1. Brown TR, Lee WL, Ventimiglia J, Grosse SD, Levy T, Thurm A, Martinez-Agosto JA, Shea LL. Genetic Testing Among Medicaid-Insured Children With Autism and Intellectual Disability. JAMA Netw Open. 2025; 8(9): e2533518.

This cohort study examines the frequency of genetic testing among Medicaid-enrolled children with autism and/or intellectual disability. eng.

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2. Burke MM. Identifying relations between child adaptive functioning, parent empowerment, and advocacy among families of young autistic children. Res Pract Intellect Dev Disabil. 2025.

When parents advocate for their offspring with autism, their children tend to receive more services and families report greater wellbeing. Yet, there are many barriers to parent advocacy. It is important to identify constructs that may serve as mechanisms of change to improve parent advocacy. Such mechanisms can be targeted in interventions. In this study, I examined the responses of 40 families of 3- to 5-year-old children with autism from low-resourced communities in the United States. Participants were enrolled in a randomised controlled trial. However, only baseline data were included in this study. Respondents completed measures related to their own empowerment, advocacy activities, and advocacy skills and comfort. Respondents also completed measures about their child’s adaptive behavior and social responsiveness. Empowerment positively and significantly related to greater comfort with advocacy and individual advocacy activities. With respect to individual advocacy activities, there was a significant interaction between empowerment and child adaptive behavior. Implications for research and practice are discussed.

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3. Chojnacka M, Skupien-Jaroszek A, Dziembowska M. Delayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome. Front Mol Neurosci. 2025; 18: 1604262.

Clinical features of the fragile X syndrome (FXS) phenotype include intellectual disability, repetitive behaviors, social communication deficits, and, commonly, auditory hypersensitivity to acoustic stimuli. Electrophysiological studies have shown that FXS patients and Fmr1KO mice exhibit improper processing of auditory information in the cortical areas of the brain and the spiral ganglion of the cochlea. Synapses formed by spiral ganglion neurons on sensory hair cells (HC) are the first connection on the path that conveys the auditory information from the sensory cells to the brain. We confirmed the presence of fragile X mental retardation protein (FMRP) in the inner hair cells of the cochlea. Next, we analyzed the morphology of IHC ribbon synapses in early stages of postnatal development (P5, P14) and detected their delayed structural maturation in Fmr1 KO mice. Interestingly, the ultrastructure of inner hair cell ribbon synapses, studied by electron microscopy in adult mice (P48), has shown no specific dysmorphologies. Delayed structural maturation of presynaptic ribbons of auditory hair cells in Fmr1 KO mice may contribute to abnormal development of circuits induced by auditory experience.

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4. Fucile S, Smith L, Swizter A, Kowalcyzk J, Alguire A, Patel H, Snider L, Dow K. Development of a Screening Instrument to Improve Access to Follow-Up Care for Children With Complex Medical Conditions: The Virtually Guided Infant Developmental Abilities Tool. Am J Occup Ther. 2025; 79(6).

IMPORTANCE: Telerehabilitation helps overcome barriers to neonatal follow-up care for children with complex medical conditions; however, existing developmental assessment tools are not suitable for this virtual medium. OBJECTIVE: To create the Virtually Guided Infant Developmental Abilities (VIDA) screening tool, intended for children ages 1-18 mo. DESIGN: The VIDA screening tool was developed using the Best Practices for Developing and Validating Scales for Health, Social, and Behavioral Research framework. Phase 1 involved defining developmental domains, generating items via a literature scoping review, and assessing content validity through a modified Delphi survey. Phase 2 included a pilot test to ensure the tool’s clarity and feasibility. SETTING: The VIDA screening tool was developed at the Kingston Health Sciences Centre in Kingston, Ontario, Canada, in a tertiary care setting. PARTICIPANTS: In Phase 1, which focused on content validity, a modified Delphi survey technique was undertaken with a total of 12 experts (10 occupational therapists, one physiotherapist, and one neonatologist). In Phase 2, which focused on scale development, a pilot test study was conducted with two occupational therapists and three families whose children necessitated neonatal follow-up care. RESULTS: The final VIDA screening tool includes 81 items that assess a child’s gross motor, fine motor, self-care, and social communication and cognitive skills through prompted responses or parent-reported observations. CONCLUSIONS AND RELEVANCE: The VIDA screening tool was developed to increase accessibility to neonatal follow-up care for children with complex medical conditions. The tool consists of observations of a child’s developmental abilities, made through a virtual platform, that can be used by most health professionals to identify children who need further developmental evaluations. Plain-Language Summary: The authors developed the Virtually Guided Infant Developmental Abilities (VIDA) screening tool to address the lack of virtual developmental assessments. It was created in accordance with the Best Practices for Developing and Validating Scales for Health, Social, and Behavioral Research framework. Phase 1 focused on item development and content validity and involved a modified Delphi survey administered to 12 health professional experts, including occupational therapists, a physiotherapist, and a neonatologist. Phase 2 involved scale development through a pilot test with two occupational therapists and three families whose children required neonatal follow-up care. The finalized VIDA tool includes two parts: Part 1 entails an intake form to gather information on parents’ concerns about their children’s development, and Part 2 includes 81 items that assess gross motor, fine motor, self-care, and social communication and cognitive skills through parent-reported observations or prompted responses. Designed for use by most health professionals, the VIDA tool improves accessibility to follow-up care by enabling virtual evaluations of developmental abilities, thereby helping identify children who need in-depth developmental assessments. The VIDA screening tool offers occupational therapists a promising approach to support early developmental monitoring of high-risk infants.

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5. Guimarães K, Jorge LP, Resende ALO, da Silva Junior EA, Kummer AME, da Silva Lessa Júnior W, de Oliveira GNM. Cannabinoid treatment impacts adaptive behavior in autism patients and caregivers’ mental health: A prospective real-life cohort study. Prog Brain Res. 2025; 296: 29-53.

INTRODUCTION: Pharmacological interventions for behavioral symptoms of Autism Spectrum Disorder (ASD) are limited and recent studies point out benefits with the use of cannabinoids. METHOD: This longitudinal observational study investigates ASD symptoms after 3 months of starting cannabidiol (CBD)-rich extract therapy and it’s impact on the mental health of caregivers. Assessment was based on clinical and socioeconomic questionnaire, Autism Treatment Evaluation Checklist (ATEC), Childhood Autism Rating Scale (CARS) and Vineland 3 Scale. The Brief Symptom Inventory (BSI) was applied to evaluate caregiver’s health. RESULTS: Sixteen patients with ASD who received cannabinoid treatment (CBD group) and seventeen patients with ASD without cannabinoid treatment (control group). CBD group was characterized as severe autism, ATEC total (SD) 85.5 ± 34.00, while controls as moderate, ATEC total (SD) 58.6 ± 25.53 (p = 0.047). After 3 months of treatment, CBD group showed a reduction in maladaptive behavior – internalizing (Vineland 3) (p = 0.008), and their caregivers a reduction in symptoms of Interpersonal Sensitivity (BSI) (p = 0.038), Global Severity Index (BSI) (p = 0.025) and Positive Symptom Distress Index (BSI) (p = 0.007), indicating reduction on mental health symptoms. For the control group, after 3 months there was a significant increase in scores for Daily Living Activities (Vineland 3) (p = 0.031) and Socialization (ATEC) (p = 0.037). CONCLUSION: This study suggests that therapy with cannabidiol (CBD)-rich extract in severe ASD may have positive effects on anxious and depressive symptoms, potentially positively impacting on the mental health of their caregivers.

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6. Hirose M. Parent-child interaction therapy as a therapeutic approach for children with autism spectrum disorder in Japan. Brain Dev. 2025; 47(5): 104434.

BACKGROUND: Children with autism spectrum disorder (ASD) often face difficulties in parent-child relationships and exhibit problematic behaviors. This study retrospectively examines the effects of standard Parent-Child Interaction Therapy (PCIT) for children with ASD and their caregivers in Japan, focusing on reducing parental stress and children’s problematic behaviors. METHODS: Eight parent-child dyads with children aged 2.5-7 years with ASD underwent standard PCIT. Measures included the Eyberg Child Behavior Inventory (ECBI), Beck Depression Inventory-II (BDI-II), Parenting Stress Index-Short Form (PSI-SF), and Child Behavior Checklist for Ages 4-18 (CBCL/4-18), assessed pre- and post-treatments. RESULTS: For parents, ECBI problem score decreased from 16.8 (SD ± 4.4) to 3.0 (SD ± 4.1) pre- and post-treatment (p < 0.05, effect size 1.9). PSI-SF parent section scores dropped from 28.7 (SD ± 7.1) to 22.1 (SD ± 6.2) (p < 0.01, effect size 2.0). The total PSI-SF score from 58.1 (SD ± 10.9) to 45.0 (SD ± 11.1), (p < 0.01, effect size 1.7). For children, ECBI intensity scores decreased from 147.9 (SD ± 20.3) to 85.5 (SD ± 17.7) (p < 0.01, effect size 3.4). PSI-SF child section scores fell from 29.4 (SD ± 4.8) to 22.9 (SD ± 5.8) (p < 0.05, effect size of 1.2), and total CBCL from 70.3 (SD ± 5.9) to 62.0 (SD ± 8.4) (p < 0.05, effect size of 1.5). CONCLUSION: The standard PCIT for children with ASD and their parents in Japan significantly reduces parental stress and children's problematic behaviors, improving parent-child interactions.

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7. Kang M, Kim S, Shin W, Kim K, Jung Y, Choi W, Paik SB, Kim E. Grin2b-mutant mice exhibit heightened remote fear via suppressed extinction and chronic amygdalar synaptic and neuronal dysfunction. Sci Adv. 2025; 11(38): eadr7691.

Individuals with autism spectrum disorders (ASD) frequently show long-lasting traumatic fear memory, but the underlying mechanisms remain unclear. Here, we report that Grin2b-mutant mice carrying a human ASD-risk mutation (Grin2b(C456Y/+) mice) show normal acquisition of contextual fear memory but suppressed fear memory extinction and enhanced remote fear memory responses, along with anxiety- and social-related abnormalities. After footshock and fear extinction, these mutants chronically develop occluded neuronal activation in the basal amygdala (BA) detectable at remote fear memory retrieval, which involves suppressed spontaneous excitatory synaptic transmission and neuronal excitability. Chemogenetic activation of mutant BA neurons during fear extinction improves fear memory extinction and remote fear memory responses without affecting anxiety- or social-related phenotypes. This rescue involves normalized spontaneous excitatory synaptic transmission and neuronal excitability. These results suggest that Grin2b(C456Y/+) mice, through impaired fear memory extinction, chronically develop suppressed spontaneous excitatory synaptic transmission and neuronal excitability in BA neurons that enhances remote fear memory responses.

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8. Khan YS, Albobali Y, Amro A, Saini P, Nour L, Chandra P, Almeraisi MJ, Alabdulla M. Evaluating a specialized autism spectrum disorder clinic in Qatar: A multidisciplinary model for comprehensive assessment and diagnosis. Res Dev Disabil. 2025; 165: 105109.

An accurate diagnosis of autism spectrum disorder (ASD) can be complex due to the high degree of phenotypical variation and the necessity to integrate information from multiple assessments by various professionals. This paper examines the implementation and effectiveness of a specialized Autism ASD Assessment Clinic within the Child and Adolescent Mental Health Service (CAMHS). The clinic addresses a critical service gap in the Middle East and North Africa (MENA) region by offering structured, comprehensive evaluations for ASD using a multidisciplinary team (MDT) model, aiming to provide comprehensive and standardized assessments for children and adolescents aged 6-17 years suspected of having ASD. The methodology involved obtaining feedback from parents/caregivers through a Likert-scale questionnaire following the completion of the assessment for children and adolescents referred to the clinic between January 2022 and December 2024. Out of 48 families who attended the appointments and completed the assessment, 27 parents/caregivers completed the feedback. High satisfaction rates with the assessment’s thoroughness, professionalism of the MDT, and clarity of feedback were observed. A statistically significant inverse correlation was found between a child’s age and parental satisfaction with assessment thoroughness and clarity of feedback, suggesting higher satisfaction among parents of younger children. The findings highlight the clinic’s effectiveness in delivering quality care, improving early support for diagnosed individuals, and providing enhanced experience to families.

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9. Lopez-Leon S, Wen X, Gaitonde S, Afonso AS, Colas S, DiSantostefano RL, Kürzinger ML, Le Noan-Lainé M, Mitter VR, Murray G, Sabidó M, Scotto J, Jacobson MH, Bromley RL, Sarayani A. A Systematic Review of Algorithms for Identifying Pediatric Neurodevelopmental Outcomes. Pharmacoepidemiol Drug Saf. 2025; 34(9): e70196.

PURPOSE: Investigating pediatric neurodevelopmental outcomes (NDO) in studies using secondary data is often challenging due to heterogeneous clinical definitions and medical coding systems. This study aims to identify the algorithms used to define NDO in studies using electronic healthcare data through a systematic literature review. METHODS: A search strategy was developed to identify studies on NDO that describe phenotype algorithms from January 1, 2010, to March 10, 2025. The search strategy included terms to identify studies containing algorithms for NDO as an outcome, routinely collected healthcare data, epidemiologic designs likely to incorporate algorithms, and pregnant individuals and/or infants/children. Two independent reviewers assessed eligibility criteria and performed data extraction, with inconsistencies reviewed by a third reviewer. Descriptive statistics were used to summarize categorical and continuous variables appropriately. RESULTS: The review included 156 publications that implemented algorithms for NDO, with 18 of these studies validating the outcomes. Most publications studied autism spectrum disorder (ASD) (n = 103, 65.6%) and attention deficit hyperactivity disorder (ADHD) (n = 72, 45.9%) either as a single outcome or as a composite. CONCLUSIONS: Instead of presenting NDO as a composite outcome, it is recommended to present multiple single outcomes. Validated outcomes in data from Nordic countries demonstrate a high positive predictive value when using one code for diagnoses, while more complex algorithms are required for US data. Clearly detailing and establishing the time of assessment for each NDO is critical to inform valid epidemiological estimates.

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10. Martinez Diaz D, Futrell B, Suter B, Layne CS. Gait Analysis in Rett Syndrome: Integrating Linear and Nonlinear Techniques. J Child Neurol. 2025: 8830738251371586.

Rett syndrome is a rare neurodevelopmental disorder that significantly impairs bipedal postural control and walking ability. This study quantifies the gait characteristics of 22 females with Rett syndrome (divided into 3 age groups) and compares them with age-matched neurotypical females. Bilateral sagittal plane joint angles of the hip, knee, and ankle were analyzed. Measures included joint range of motion, stride time, peak angular velocity, angle-angle diagrams, phase portrait areas, and asymmetries. Results revealed reduced joint range of motion and angular velocity in individuals with Rett syndrome, as well as greater asymmetries in gait parameters reflecting disruptions in bilateral coordination. Phase portraits and angle-angle diagrams indicated preserved coordination in proximal joints but greater variability at the ankle. Ankle movement in individuals with Rett syndrome aged 9-14 years showed a closer resemblance to Controls. These findings identify underlying lower limb motion patterns that contribute to gait deficits in Rett syndrome, guiding future targeted interventions to improve their mobility.

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11. Mecit T, Altuntaş İ, Erdoğan MA, Uyanıkgil Y, Erbaş O. Therapeutic Effect of LEV in a Propionic Acid-Induced Autism Model via AMPK/SIRT1 Pathway. Int J Dev Neurosci. 2025; 85(6): e70055.

OBJECTIVES: In this study, we aimed to evaluate the therapeutic effect of levetiracetam (LEV), an antiepileptic drug used in the treatment of both focal and generalized epilepsy, in a propionic acid (PPA)-induced autism model by assessing social deficits, learning and memory impairments, and their neurochemical correlates. We further examined the involvement of the AMPK/SIRT1 signalling pathway as a potential molecular mechanism. MATERIAL AND METHODS: Thirty male Wistar albino rats were allocated into three groups: normal control (n = 10), PPA + saline (n = 10) and PPA + LEV (n = 10). Autism-like features were induced by intraperitoneal PPA administration (250 mg/kg/day, 5 days). LEV was administered orally (100 mg/kg/day) for 15 days. Behavioural performance (three-chamber sociability test, open-field test, passive avoidance learning), biochemical markers (malondialdehyde [MDA], tumour necrosis factor-alpha [TNF-α], brain-derived neurotrophic factor [BDNF], AMPK, and SIRT1) and histopathological changes (neuronal counts in CA1, CA3, Purkinje cells; GFAP immunostaining) were evaluated. RESULTS: In the sociability test, social interaction time decreased by 51.6% in the PPA + saline group compared to controls (67.2% ± 2.4% vs. 32.5% ± 2.1%), while LEV increased it by 121.8% vs. PPA + saline (72.1% ± 4.5%). Open-field ambulation decreased by 83% in PPA + saline (17.3 ± 3.2 vs. 2.9 ± 0.8) and increased by 158% with LEV (7.5 ± 2.16). Passive avoidance latency decreased by 76% in PPA + saline (245.9 ± 17.5 s vs. 59.2 ± 20.8 s) and increased by 180% with LEV (165.7 ± 18.3 s). MDA levels increased by 187% in PPA + saline vs. controls (49.9 ± 1.4 vs. 143.5 ± 4.7 nmol/g protein) and decreased by 31% with LEV (98.6 ± 5.4). TNF-α increased by 1012% in PPA + saline (13.1 ± 0.9 vs. 145.8 ± 10.6 pg/mg protein) and decreased by 39% with LEV (88.4 ± 3.9). BDNF decreased by 52% in PPA + saline (5.21 ± 0.9 vs. 2.48 ± 0.3 pg/mg protein) and increased by 88% with LEV (4.66 ± 0.5). AMPK decreased by 62% in PPA + saline (113.5 ± 6.3 vs. 43.2 ± 7.5 pg/mg protein) and increased by 73% with LEV (74.8 ± 2.1). SIRT1 decreased by 75% in PPA + saline (4.65 ± 0.5 vs. 1.17 ± 1.1 pg/mg protein) and increased by 132% with LEV (2.72 ± 0.8). Histologically, CA1 neuronal counts decreased by 35% in PPA + saline (67.2 ± 2.04 vs. 43.8 ± 1.1) and increased by 38% with LEV (60.5 ± 1.3). CA3 neuronal counts decreased by 31% in PPA + saline (48.5 ± 3.2 vs. 33.7 ± 1.9) and increased by 31% with LEV (44.2 ± 0.8). Purkinje cells decreased by 53% in PPA + saline (26.2 ± 0.5 vs. 12.2 ± 0.8) and increased by 68% with LEV (20.5 ± 1.1). GFAP indices in CA1, CA3 and cerebellum were elevated in PPA + saline (31.6 ± 2.4 vs. 47.5 ± 1.2; 33.4 ± 1.1 vs. 48.2 ± 0.7; 21.2 ± 1.6 vs. 32.3 ± 0.9) and reduced with LEV (40.3 ± 0.6; 39.5 ± 0.8; 28.5 ± 1.4, respectively). These therapeutic effects were accompanied by marked upregulation of the AMPK/SIRT1 pathway, which was suppressed in the PPA + saline group. CONCLUSION: LEV treatment ameliorated PPA-induced behavioural, biochemical and histological impairments, likely via anti-inflammatory, antioxidant and neuroprotective mechanisms involving activation of the AMPK/SIRT1 pathway. These findings support LEV as a potential therapeutic candidate for autism spectrum disorder.

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12. Ortiz-Cruz CA, Peralta-Ramirez M, Herrera-Murillo MA, Mejia-Ortiz RA, Palomero-Rivero M, Guo B, Ramirez-Jarquin UN, Lopez-Huerta VG. Subtype-specific alterations in first- and higher-order thalamic reticular neurons in the Shank3 mutant mouse model of autism. Neurobiol Dis. 2025: 107108.

The thalamic reticular nucleus (TRN) is a critical inhibitory structure in the thalamocortical network, playing key roles in sensory processing, attention, cognitive flexibility, and sleep rhythms; importantly these functions are altered in autism spectrum disorder (ASD). The TRN consists mainly of two neuronal subpopulations: first order (FO) neurons, which modulate sensory relay nuclei, and higher-order (HO) neurons, which control associative thalamic circuits. TRN-FO neurons are located in the core region, show a high expression of repetitive burst firing, and are known to contribute to slow-wave oscillations. In contrast, neurons innervating HO thalamic nuclei are in the anterior and peripheral regions of the TRN and have fewer burst firing. These subpopulations provide specialized inhibition to thalamus, but their alterations in ASD have rarely been explored. We evaluated the reticular inhibitory system in thalamic nuclei (FO and HO) in Shank3 KO mice, a well-established monogenic model of ASD. We analyzed electrophysiological properties of targeted TRN neurons, our results show that TRN neurons projecting to FO and HO nuclei exhibit differential changes in Shank3 KO mice, including decreased burst firing in FO projecting neurons, which is crucial for maintaining sleep architecture. Additionally, we examined spontaneous and miniature inhibitory postsynaptic currents (IPSCs), in ventroposteromedial (VPM-FO) and posteromedial (POm-HO) thalamic nuclei. We show a reduction in frequency of spontaneous IPSCs in VPM but no changes in mIPSCs. On the other hand, in POm neurons, we observe a reduction in frequency both in sIPSCs and mIPSCs. Together, our results show distinct alterations in the inhibitory control of FO and HO thalamic nuclei in Shank3 KO mice, which could contribute to the deficits in sleep and sensory processing observed in ASD.

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13. Piccorelli AV, Moody EJ, Heath D, Dahl E, Root-Elledge S. Support needs and adaptive behavior surveys: Services prediction and relationship. PLoS One. 2025; 20(9): e0294539.

The Inventory for Client and Agency Planning (ICAP) and the Supports Intensity Scale (SIS) have been used to determine Medicaid eligibility for individuals with disabilities but are designed to capture different information. This project explored how these surveys relate to services received and each other. ICAP and SIS surveys were conducted on 125 Wyoming adults with intellectual and developmental disabilities eligible for a Medicaid Waiver. Results suggest that both measures were strongly associated and could be used to predict services. However, this study suggests that the SIS and ICAP summary measures were separate constructs. Therefore, both instruments can be used to determine Medicaid eligibility, but implementers should be aware of differences in the types of constructs being captured.

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14. Progovac L, Benítez-Burraco A. Rigidity in Autism Spectrum Disorder (ASD): A Unified (Evolutionary) Account of Salient Linguistic and Non-Linguistic Characteristics. Autism Dev Lang Impair. 2025; 10: 23969415251379995.

Autism spectrum disorder (ASD) typically exhibits stereotyped or repetitive behavior that can be described as rigid, but also certain characteristics in the domain of language that can equally be characterized as rigid. These include heightened, enhanced sensitivity to the rules of grammar (morpho-syntax), often resulting in hyper-systemizing, as well as rigidity interpreting metaphorical, non-literal language. Human cognition and behavior (including language) believably resulted from an intense feedback loop between an increase in cognitive flexibility (primarily through a gradual emergence and complexification of language/grammar) and a reduction in reactive aggression and impulsivity (this resulting in more prosocial behaviors). Neurobiologically, this feedback loop contributed to a relatively recent evolution of denser connectivity between some cortical structures and the striatum, which is found affected in ASD. In this paper, we propose that the seemingly disparate features of ASD, including linguistic and behavioral rigidity, result from a common cause: an enhanced striatal function, linked to a reduced control of the striatum by selected cortical structures. The striatum is associated with both impulsiveness (including reactive aggression) and with automated, rigid, ritualized responses. Our proposal is specific enough that it can be experimentally tested, with implications for clinical approaches to autism.

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15. Shu Y, Yang J, Zhang P, Zhang X, Zhao X, Yan J, Zhang B, Du J. Selenium improves behavioral performance in a rat model of autism spectrum disorder by mitigating oxidative stress and modulating the Sirt1/Keap1/Nrf2/HO-1 signaling pathway. Int Immunopharmacol. 2025; 166: 115556.

Autism spectrum disorder (ASD) is a diverse collection of neurodevelopmental disorders often accompanied by excessive oxidative stress and chronic inflammatory responses. Selenium (Se), a trace element, has demonstrated anti-inflammatory, antioxidant, and neuroprotective effects. The present study aimed to examine the effects of sodium selenite, a Se supplement, on a rat model of ASD. The valproic acid intervention method was used during pregnancy to construct an ASD rat model. Rats were then treated with sodium selenite. Behavioral tests, morphological assessments, and measurements of antioxidant enzymes, oxidative stress indicators, and inflammatory factors in the hippocampal tissues and serum were conducted. Se supplementation mitigated inflammatory responses and oxidative stress in ASD rats while preserving neuronal morphology and function. In addition to Se supplementation, rats received specific inhibitors targeting the signaling pathway. Protein and mRNA expression levels, as well as the tissue distribution of sirtuin 1 (Sirt1), heme oxygenase-1 (HO-1), nuclear factor erythroid 2-related factor 2 (Nrf2), and Kelch-like ECH-associated protein 1 (Keap1), were evaluated. The results demonstrated that Se treatment upregulated the expression levels of Sirt1, Nrf2, and HO-1, while downregulating Keap1 expression. These findings demonstrate that Se attenuates inflammatory damage and oxidative stress in the brain, and this protective effect is associated with the Sirt1/Keap1/Nrf2/HO-1 signaling pathway.

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16. Thang J, Zhou X, Lee JE, Hnem T. Help-Seeking Experiences among Burmese American Families of Children with Autism Spectrum Disorder: A Multi-Informant Qualitative Study. Asian Am J Psychol. 2025.

Burmese refugees, constituting one of the largest group of refugees admitted to the United States, accounting for 21% of total admissions in the past decade. Using a multi-informed perspective, this research study sought to understand the help-seeking experiences of Burmese American refugee families regarding the diagnosis and treatment of autism spectrum disorder. In this study, we conducted semi-structured qualitative interviews with 16 individuals, including primary caregivers (n=6), Burmese community leaders (n=4), and healthcare workers (n=6). Caregiver interviews were conducted in Burmese Chin languages by native speakers on the research team. Our results indicated systematic barriers and access to health care, health literacy, cultural stigma and perception surrounding families and community, professional and family interaction with multicultural consideration, and caregiver burnout collectively shape the complex landscape of help-seeking experiences among Burmese American families with children with ASD. We provided clinical recommendations for providers and community leaders to address the barriers found in our study.

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17. Xiao H, Yang L, Wan Y, Zhao W, Guo S. Inter-subject functional variability of gray and white matter in autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 142: 111500.

BACKGROUND: Autism spectrum disorder (ASD) is biologically highly heterogeneous; however, most studies focused on group-level analyses, overlooking inter-subject variability in functional connectivity (IVFC), particularly in white matter IVFC (WM-IVFC) where mechanisms and genetic influences remain unclear. METHODS: Resting-state functional magnetic resonance imaging data from 272 patients with ASD and 368 typical controls (TC) were obtained from the Autism Brain Imaging Data Exchange Project (ABIDE II) database. Gray matter IVFC (GM-IVFC) and WM-IVFC were compared between groups and correlated with symptom severity. A support vector machine (SVM) model was constructed to assess the diagnostic potential of GM-IVFC, WM-IVFC, and their combination. Transcriptome neuroimaging analyses were conducted by correlating IVFC alterations with regional gene expression data from the Allen Human Brain Atlas. RESULTS: Both GM-IVFC and WM-IVFC showed regionally uneven distributions across the brain. Compared to TC, patients with ASD exhibited increased GM-IVFC mainly in the default mode and attention networks, and altered WM-IVFC mainly in the genu of the corpus callosum and superior fronto-occipital fasciculus, which were significantly associated with symptom severity. The SVM model utilizing both the GM-IVFC and WM-IVFC features yielded the best diagnostic performance (accuracy = 0.77). Transcriptome-neuroimaging associations revealed that GM-IVFC alterations were enriched in genes involved in sensory organ morphogenesis, whereas WM-IVFC alterations were linked to astrocyte-related pathways. CONCLUSIONS: Our findings highlight the complementary roles of GM-IVFC and WM-IVFC, supporting their potential as biomarkers and offering novel insights into the genetic and neurobiological underpinnings of ASD.

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18. Zhang Y, Ahsan MU, Wang K. Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders. iScience. 2025; 28(9): 113258.

Previous genetic studies in Autism Spectrum Disorder (ASD) identified hundreds of high-confidence ASD genes enriched with likely deleterious protein-coding de novo mutations (DNMs). Multiple studies also demonstrated that DNMs in the non-coding genome can contribute to ASD risk. However, the identification of individual risk genes enriched with noncoding DNMs has remained largely unexplored. We analyzed two datasets with over 5000 ASD families to assess the contribution of noncoding DNMs. We used two methods to assess statistical significance for noncoding DNMs: a point-based test that analyzes sites that are likely functional, and a segment-based test that analyzes 1 kb genomic segments with segment-specific background mutation rates. We found that coding and noncoding DNMs in SCN2A are associated with ASD risk. Further application of these approaches on large-scale whole genome sequencing data will help identify additional candidate ASD risk genes.

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19. Zhao S, Wang H, Hou F, Chen Y, Zhu K, Liu R, Xiang Z, Zhang J, Liang X, Li L, Song R. Regulatory roles of rs2192932 and rs10487150 in autism spectrum disorder: insights from fine-mapping and cross-population validation. Hum Mol Genet. 2025; 34(19): 1621-7.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with increasing global prevalence. GWAS have identified many ASD risk loci, but most are in non-coding regions, and the genetic value of nearby loci remains underexplored. We aim to conduct a fine-mapping analysis of ASD-associated SNPs and validate the signals across ethnic groups, focusing on their regulatory effects on gene expression. Variants within ±500 kb of known ASD loci were selected. Functional annotations were performed using RegulomeDB and CADD. ASD susceptibility genes were obtained from AutDB and SFARI, and screened for validation using 11 high-quality GEO datasets. eQTL analysis was conducted using GTEx database. For Chinese children, a case-control study design was adopted. Biological samples and demographic information were collected from 1244 children between 2010-2024. Extracted DNA was used for ASAMD chip. For European children, GWAS data from 46351 samples were obtained from iPSYCH-PGC-ASD project. 158 ASD susceptibility SNPs with cis-eQTL signals in brain tissue were identified. Notably, rs2192932 and rs10487150 showed consistent associations with ASD in both populations. In additive model, a G to A change at rs2192932 increased ASD risk by 29.5% (OR = 1.295, 95% CI: 1.046-1.605, P = 0.018), while an A to C change at rs10487150 increased risk by 22.7% (OR = 1.227, 95% CI: 1.008-1.495, P = 0.042). Additionally, rs2192932 and rs10487150 may influence ASD onset by regulating SERPINE1 expression. These findings offer new insights into the molecular genetics of ASD and support the potential of genetic markers for risk prediction and early screening.

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