1. Al Ghadeer HA, Al Ibrahim HA, AlKhars AS, Al Hamad FH, Al Ali AI, Al Bosrour ZA, Fadaaq DZ, Alibrahim NS, Almousa SA, Alqahtani FH, Al Hassan KA. Disturbances and Associated Factors Among Children With Autism Spectrum Disorder: A Cross-Sectional Study. Cureus;2026 (Jan);18(1):e101920.

Introduction Children with autism spectrum disorder (ASD) experience a range of comorbidities, including sleep disorders. Sleep disturbances are more prevalent in this population than in typically developing children and may exacerbate behavioral symptoms such as inattention and irritability, increasing the overall psychosocial burden of ASD. Aim This study assessed the pattern, frequency, and predictors of sleep disturbances among children with ASD in Al-Ahsa, Saudi Arabia. Methods A cross-sectional study was conducted between April 2025 and October 2025 among children diagnosed with ASD at the Child Development Center of Maternity and Children Hospital, Al-Ahsa. Caregivers completed the Children’s Sleep Habits Questionnaire (CSHQ), a validated 33-item instrument covering eight sleep domains, with a total score ≥41 indicating clinically significant sleep disturbance. Additional demographic, behavioral, and clinical data were collected. Descriptive statistics, t-tests, one-way ANOVA, and multiple linear regression were used to identify factors associated with sleep disturbance. Results A total of 116 children with ASD were included, with a mean age of 6.2±1.9 years. The mean total CSHQ score was 76.3±9.3, indicating a high burden of sleep disturbances. In bivariate analyses, total CSHQ scores were significantly associated with age at autism diagnosis, autism severity, parental sleep-related anxiety, sleeping arrangement, caffeine intake, and history of sleep medication use. In multivariable linear regression analysis, age at autism diagnosis, autism severity, parental sleep-related anxiety, sleeping arrangement, and prior use of sleep-inducing medications remained independently associated with total sleep disturbance scores, whereas caffeine intake was not retained in the final model. Conclusion Sleep disturbances were highly prevalent among children with ASD, affecting multiple sleep domains and influenced by a combination of clinical and psychosocial factors. Routine sleep screening, caregiver education, early ASD diagnosis, and integrated behavioral and medical interventions are essential to improving sleep and overall quality of life in this population.

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2. Arduç Akçay A, Türkmen Noyan G, Çalışkan İ, Konakçı B, Copur S, Mutluer T. Sociodemographic Profiles and Age-Related Differences in Comorbidities, Sleep, and Quality of Life of Turkish Children with Rett Syndrome and Their Families. Neuropediatrics;2026 (Feb 23)

OBJECTIVE: This study aimed to examine sociodemographic characteristics, comorbid medical conditions, sleep problems, and their impact on quality of life in Turkish children with Rett Syndrome (RTT) and their caregivers. A secondary aim was to explore how these features vary by age group: early (0-5), middle (6-11), and late childhood (12-18 years). METHODS: In this cross-sectional study, 77 children with RTT and their caregivers completed standardized online questionnaires. Quality of life and sleep were assessed using the PedsQL and CSHQ. Participants were grouped by age to examine developmental differences. RESULTS: Only 37.8% of the children had developed speech, and most later lost this ability. Independent walking was reported in 43.2%. Epilepsy (71.6%) and gastrointestinal symptoms (56.8%) were common. Sleep problems were identified in 48.6% of children, with parasomnia symptoms significantly more common in the 0-5 age group (p=0.039). Emotional functioning was lower in younger children (p=0.022). Poor sleep quality was associated with worse family relations (p=0.032). CONCLUSIONS: Younger children with RTT experience more emotional and sleep problems. Sleep quality is closely tied to family well-being, suggesting that interventions should address sleep in both children and caregivers.

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3. Boeri S, Cognolato E, Simonetta D, Ratta G, Pelizza MF, Stevanato G, Battaglia D, Quintiliani M, Quartana M, Pitino R, Prato G, Bagnasco I. Use of fenfluramine in MECP2-related Rett syndrome: Findings from a retrospective multicenter pediatric case series. Epilepsy Behav;2026 (Feb 21);178:110920.

INTRODUCTION: Rett syndrome (RTT) is a severe neurodevelopmental disorder mainly affecting females. The patients could experience many comorbidities, including gastrointestinal, breathing, cardiovascular disorders, and seizures, which are often drug-resistant. Many antiseizure medications (ASMs) can be utilized as monotherapy or in combination. Fenfluramine (FFA), has a unique mechanism of action that targets the serotonergic system and sigma-1 receptors, has shown benefit in other epileptic encephalopathies, but data on RTT are lacking. METHODS: We retrospectively reviewed the charts of four pediatric patients (mean age 11 years, ± 2.6, min, 9 years old, max 14 years old) with MECP2-related RTT and drug-resistant epilepsy, treated with FFA between 2019 and 2025 (mean treatment duration: 10.5 months ± 2.4, min. 9 months, max 13 months – treatment duration was calculated from treatment initiation until study completion, which was uniformly defined as March 2025 (time of first manuscript draft) or until drug discontinuation. Clinical data, seizure outcomes, behavioral changes, and adverse effects were collected through medical records and caregiver interviews. RESULTS: Three out of four patients experienced a significant reduction in seizure frequency, with > 50% reduction in two cases. Tonic-clonic seizures decreased in all responders. One patient did not show improvement and discontinued FFA. Adverse events (apathy and psychomotor slowing) were reported in one case but resolved after temporary discontinuation. EEGs in responders demonstrated partial improvement with a reduction in interictal abnormalities. No cardiac adverse events were observed. Improvement in alertness and interaction, and reduced irritability were reported in two patients. DISCUSSION: FFA appears effective and generally well-tolerated in patients with RTT and drug-resistant epilepsy, particularly for generalized tonic-clonic seizures. Cognitive and behavioral improvements reported by caregivers may be attributable to a combination of serotonergic receptor modulation and reduced seizure burden. Despite polytherapy, side effects were minimal. These findings align with existing literature on FFA use in other developmental epileptic encephalopathies. Prospective studies on larger cohorts with long-term monitoring are needed to validate efficacy, safety, and cognitive-behavioral outcomes.

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4. Choi Y, Lee M, Park S, Lee H, Kim JH, Kim JW, Yim SV, Sook M. Ginger supplementation alleviates autistic behaviors by modulating AKT/GSK3β signaling in mice exposed to prenatal valproic acid. Food Funct;2026 (Feb 23);17(4):1941-1951.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and comorbid symptoms including anxiety and cognitive problems. The main pathological mechanisms underlying ASD are synaptic abnormalities and neuroinflammation. Ginger, commonly used as a spice, has been reported to enhance neurogenesis and attenuate inflammation in neurological disease; however, its effects on ASD remain unknown. This study aimed to investigate the therapeutic effects and molecular mechanisms of ginger extract (GE) in ASD. Prenatally valproic acid (VPA)-exposed mice were orally administered GE for 4 weeks from 6 weeks of age. Behavioral tests were performed to assess social interaction, anxiety, and cognitive functions. Network pharmacology and molecular docking analyses were used to predict targets and mechanisms of GE in ASD, which were verified using western blotting. Histological changes, including neurogenesis, neuroinflammation, and synaptic formation, were analyzed using immunostaining, western blotting, and qRT-PCR. GE ameliorated VPA-induced social deficits, anxiety-like behavior, and memory impairments. Network pharmacology identified AKT as a core molecular target of GE, and its active compounds exhibited high binding affinity for AKT. Consistent with these predictions, GE increased AKT and GSK3β phosphorylation in the hippocampus of mice, thereby restoring neuronal development, as evidenced by the increased Ki67- and DCX-positive cells. GE also mitigated gliosis and reduced STAT3 phosphorylation and TNF-α upregulation, thereby suppressing neuroinflammation and synaptic loss. GE alleviates ASD-like behaviors by promoting neuronal and synaptic development while suppressing neuroinflammation through AKT/GSK3β signaling, highlighting its potential as a natural supplement for ASD prevention.

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5. Cirnigliaro L, Saccuzzo L, Marzà V, Randazzo M, Perdichizzi M, Romano C, Fichera M, Rizzo R, Barone R. De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder. Front Psychiatry;2026;17:1754241.

INTRODUCTION: ARHGAP32 gene (Rho GTPase Activating Protein 32) encodes a Rho GTPase activating protein, which is vital for the regulation of synaptic plasticity and cytoskeletal dynamics. ARHGAP32 (11q24.3) has been implicated as a candidate gene for Autism Spectrum Disorder (ASD) in Jacobsen syndrome, where a 243-kb terminal deletion encompasses its locus. A unique patient with de novo (DN) likely gene-disruptive mutation of ARHGAP32 has been reported so far in the medical literature. The present study was undertaken to understand clinical, molecular, and neurobehavioral characteristics of ASD associated with a novel DN nonsense mutation in ARHGAP32. METHODS: Clinical characterization included basal and follow-up assessment with standardized measures and comorbidities diagnosis. Trio exome sequencing analyses (WES) and variants annotation were performed. RESULTS: WES analyses of a 6-year-old female patient with idiopathic ASD revealed DN heterozygous nonsense variant in ARHGAP32 (NM_001378024.1: c.610C>T; NP_001364953.1: p.(Arg204Ter). The variant is predicted to introduce a premature stop codon, resulting in either a truncated protein or activation of nonsense-mediated mRNA decay, ultimately leading to loss of function. The patient presented with normative growth parameters and cranial measurements, with no congenital morphological anomalies. A diagnosis of idiopathic ASD was made at age 2. Developmental delays were observed, notably language regression beginning at 18 months, mild intellectual disability, and restricted interests accompanied by repetitive motor and verbal behaviors. Significant hyperactivity and attentional difficulties were observed. Over time, she exhibited borderline non-verbal cognitive functioning, persistent speech impairment, and was subsequently diagnosed with comorbid Attention Deficit Hyperactivity Disorder. DISCUSSION: This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with de novo LoF mutations in ARHGAP32 and reinforces the involvement of RhoGAP family proteins in neurodevelopmental disorders. Taken together with previous evidence, our data support the role of ARHGAP32 as a candidate gene for ASD, expanding the genetic spectrum.

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6. Crisci G, Lievore R, Mammarella IC. Blurred lines: Investigating functional profiles in autism and ADHD across key developmental domains. Res Dev Disabil;2026 (Feb 21);170:105240.

While Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) present distinct symptoms and developmental trajectories, they also share overlapping characteristics across different domains. This exploratory study investigated differences between ASD, ADHD and non-diagnosed (ND) peers across theory of mind, pragmatic language, inattention, impulsivity, social skills, and behavioral problems. A data-driven approach was further applied to explore whether distinct functional profiles emerged across these domains and whether such profiles aligned with traditional diagnostic categories. The sample included 204 participants aged 8-16: 51 with ASD, 64 with ADHD, and 89 ND, matched for age, sex, and intelligence quotient. Results highlight that both clinical groups performed worse than ND peers, with no differences between ASD and ADHD. Latent profile analysis identified four distinct profiles: 1 (« Inattentive with pragmatic difficulties »; n = 20), 2 (« Social deficits with behavioral dysregulation »; n = 63), 3 (« Highly impulsive »; n = 24), and 4 (« Minimal impairments »; n = 97). The first three were predominantly composed of autistic and ADHD participants, while the fourth was distinctive of ND. Notably, 50 % of both autistic and ADHD participants were grouped into Profile 2, characterized primarily by parental reports, alongside weaknesses performing tests. Our findings suggest that ASD and ADHD share difficulties across key developmental domains, with functional profiles extending beyond traditional diagnostic boundaries. Given the exploratory nature of the study and the relatively limited sample size, these findings should be considered preliminary and warrant replication in larger and more diverse samples. Despite this, our results support a dimensional view of neurodevelopmental conditions, while highlighting the need to integrate informant reports, psychometric data, and clinical judgment to ensure meaningful interpretations of a child’s functional profile.

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7. Duan P, Dvornek NC, Wang J, Staib LH, Duncan JS. CAUSAL MODELING OF FMRI TIME-SERIES FOR INTERPRETABLE AUTISM SPECTRUM DISORDER CLASSIFICATION. Proc IEEE Int Symp Biomed Imaging;2025 (Apr);2025

Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects social and communicative behaviors. It emerges in early life and is generally associated with lifelong disabilities. Thus, accurate and early diagnosis could facilitate treatment outcomes for those with ASD. Functional magnetic resonance imaging (fMRI) is a useful tool that measures changes in brain signaling to facilitate our understanding of ASD. Much effort is being made to identify ASD biomarkers using various connectome-based machine learning and deep learning classifiers. However, correlation-based models cannot capture the non-linear interactions between brain regions. To solve this problem, we introduce a causality-inspired deep learning model that uses time-series information from fMRI and captures causality among ROIs useful for ASD classification. The model is compared with other baseline and state-of-the-art models with 5-fold cross-validation on the ABIDE dataset. We filtered the dataset by choosing all the images with mean FD less than 15mm to ensure data quality. Our proposed model achieved the highest average classification accuracy of 71.9% and an average AUC of 75.8%. Moreover, the inter-ROI causality interpretation of the model suggests that the left precuneus, right precuneus, and cerebellum are placed in the top 10 ROIs in inter-ROI causality among the ASD population. In contrast, these ROIs are not ranked in the top 10 in the control population. We have validated our findings with the literature and found that abnormalities in these ROIs are often associated with ASD.

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8. Eltantawy MM, Almutairi M. Internet gaming disorder among individuals with autism spectrum disorder in the Kingdom of Saudi Arabia: a comparative study. Front Public Health;2026;14:1718787.

INTRODUCTION: Technological advancements have produced several positive outcomes, especially for those with disabilities, as technology can help compensate for certain limitations. However, these advancements have also yielded adverse outcomes due to the overuse of technology, such as Internet gaming disorder (IGD). Therefore, this study aimed to explore the prevalence of IGD among individuals with autism spectrum disorder (ASD), determine its prevalence among males and females across different age groups, and identify differences in IGD based on sex and age. METHODS: In this cross-sectional comparative study, a simple random sampling method was employed to explore the prevalence of IGD among individuals with ASD and identify differences in IGD based on sex and age. Group comparisons were conducted using the Mann-Whitney U and Kruskal-Wallis tests. This study employed the Internet Gaming Disorder Scale-Short-Form after preparing a parent-report version and verifying its psychometric properties through exploratory and confirmatory factor analyses. Overall, the study sample comprised 276 parents of children with ASD in Riyadh, Kingdom of Saudi Arabia. RESULTS: IGD prevalence was 44.56, 49.72, and 35.35% among individuals with ASD, males, and females, respectively. Its prevalence was 27.27, 62.22, and 42.20% among individuals aged 6-12, 12-18, and >18 years, respectively. The results revealed statistically significant sex differences, with females exhibiting higher levels of IGD severity than males. Statistically significant differences were also observed across age groups, with the highest IGD levels occurring in the 12-18-year-old age group. CONCLUSION: IGD is prevalent among individuals with ASD, with higher rates observed during adolescence. These findings highlight the urgent need to develop targeted intervention and counseling programs, as well as provide the necessary entertainment programs and activities, to help individuals with ASD reduce their gaming time.

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9. Fields AM, Smith Hill RB, Lewis OJ, Castle M, Gilreath R, Perez LM, Reynolds MA, Dean R, Stinnett CV. Experiences of US college students with intellectual and developmental disabilities in developing and maintaining physical wellness. J Intellect Disabil;2026 (Feb 23):17446295261428179.

College students with intellectual and developmental disabilities in inclusive postsecondary education (IPSE) programs face unique physical wellness challenges. However, the majority of scholarship highlights family and IPSE staff perspectives as opposed to centering student voices. This study explores the lived experiences of college students with intellectual and developmental disabilities in developing and maintaining physical wellness. We used consensual qualitative research to explore physical wellness experiences gathered from semi-structured interviews of 14 college students with intellectual and developmental disabilities in an IPSE program. Following CQR guidelines, we present four fully differentiated domains organized into development, maintenance, and mediating domains. We offer implications for educators, caregivers, and IPSE staff to better support wellness behaviors and address the interconnected challenges of being a college student and living with intellectual and developmental disabilities.

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10. Fireizen SM, Finkelstein A, Benisti L, Tenenbaum A. Vaccination decision-making in children with intellectual and developmental disabilities- it’s a matter of trust. Vaccine;2026 (Feb 21);77:128382.

Children with intellectual and developmental disabilities (IDD) are among the most disadvantaged population groups in receiving timely and appropriate access to health and preventative health care such as vaccinations. Little is known about how parents understand, experience, and strategize when deciding whether to vaccinate children. Our qualitative study involved four focus groups and two individual semi-structured interviews. Results were analyzed through thematic analysis. We integrated two main themes: (1) Parents weighed the same vaccination considerations for children with IDD and their siblings; (2) The health system played a key role in parents’ vaccination decision-making process for children with IDD. Our research demonstrates that parents who gain trust in the health system will decide to vaccinate all their children, not only those with IDD. These parents need additional information and advice, easier access to vaccine services, and additional information and explanation to build a trusting relationship with the health system.

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11. Fontenla MCR, Carballo-Pacoret P, Dominguez-Alonso S, Gonzalez-Peñas J, Parellada M, Arango C, Carracedo A. Large-scale sequencing study of de novo regulatory Tandem Repeats (TRs) identifies new ASD (Autism Spectrum Disorders) candidate genes integrating gene expression mapping, brain scRNA-seq and organoid models. Res Sq;2026 (Feb 13)

In this study, we performed an integrative analysis of de novo tandem repeats (TRs) to unravel the missing heritability that may be hidden in 85,394 active cis-regulatory elements (cCREs) from ENCODE through target sequencing in a Spanish cohort of 200 ASD trios, using a robust bioinformatic pipeline. For the integrative analysis, we use data from 1,637 ASD simplex quad families from the Simons Simplex Collection (SSC). We then incorporated multiple layers of functional annotation, including predicted transcription factor (TF) binding sites, gene mapping based on physical proximity and expression correlation, pathogenicity scoring, single-cell RNA-seq data from human brain in ASD cases and controls and cortical organoid expression data. Together, our analyses identified multiple ASD-relevant candidate genes supported by convergent lines of evidence. Notably, ECHS1 emerged as a strong candidate, affected by several de novo TRs in both the Spanish cohort and the SSC. It was also identified as the most significantly associated gene through expression-based gene mapping (T-Gene) and showed consistent differential expression in excitatory neurons of the cerebral cortex at the single-cell level along with increased expression in late-stage cortical organoids. These findings remark the value of integrating genetic and transcriptomic information to improve the identification of potential risk genes for ASD, particularly within non-coding regions. Our approach also highlights the importance of identifying complex genetic variation, such as de novo TRs, that are typically missed in conventional exome or whole-genome analyses, and require specialized bioinformatic strategies for accurate detection and interpretation.

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12. Gad H, AlObaidi A, Kamal M, Elhag SF, Aden M, Khan A, Baraka A, Bennabhaktula S, Joseph S, Alhamadi AY, Tolefat MA, Alhothi AA, Malik RA. Children with autism spectrum disorder and attention deficit hyperactivity disorder have evidence of sensory nerve degeneration. PLoS One;2026;21(2):e0342439.

An increasing body of evidence supports the role of altered sensory processing in autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This exploratory study undertook corneal confocal microscopy (CCM) to assess for differences in corneal nerve fiber density (CNFD), branch density (CNBD) and fiber length (CNFL) in relation to ASD severity in children with ASD+ADHD (n = 21), ASD (n = 6) and healthy controls (HC) (n = 15). CNBD was significantly lower in children with ASD+ADHD (P = 0.002) and ASD (P < 0.001) and CNFL was significantly lower in children with ASD (P = 0.02) compared to HC. However, CNFD (mean difference = 2.28, 95% CI [-5.84, 10.40], P > 0.99) CNBD (mean difference = 14.1, 95% CI [-8.22, 36.4], p = 0.37) and CNFL (mean difference = 2.46, 95% CI [-2.28, 7.20], p = 0.61) did not differ between ASD+ADHD and ASD. CNFD (P = 0.876), CNBD (P = 0.405) and CNFL (P = 0.606) did not correlate with the severity of ASD. Corneal confocal microscopy reveals sensory nerve degeneration in children with ASD+ADHD and ASD alone compared to controls. Larger studies integrating CCM with sensory and cognitive assessment are required to determine the utility of CCM as a clinical screening strategy for neurodegneration in ASD, ADHD and ASD-ADHD combined.

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13. Hansford RLW, Wilson B, Griffiths R, Mahar AL. Factors Associated With the Receipt of Female Breast Cancer Treatment Among People Living With Intellectual or Developmental Disabilities: A Population-Based Retrospective Cohort Study. J Intellect Disabil Res;2026 (Feb 22)

BACKGROUND: People with intellectual or developmental disabilities (IDD) experience breast cancer care inequities relative to those without IDD. Identifying factors associated with receipt of breast cancer treatment among those with IDD is needed to provide guidance and inform resources for improving patient-centred care. This study explores factors associated with receipt of breast cancer treatment among individuals with IDD. METHODS: We conducted a population-based retrospective cohort study with administrative health data in Ontario, Canada. Adults with IDD diagnosed with Stage I-III female breast cancer between 2007 and 2018 were included. We examined factors associated with receipt of breast cancer treatment based on stage-specific guideline recommendations. Sociodemographic (e.g., age, region, and rurality), clinical (e.g., comorbidities), cancer-related (e.g., stage at diagnosis and nodal status) and health system (e.g., family interview with a physician) factors associated with overall treatment, surgical resection, mastectomy and radiation were explored using modified Poisson regression with robust standard error variance. Crude and adjusted risk ratios with 95% confidence intervals were estimated. RESULTS: The overall treatment cohort, surgical resection cohort, mastectomy cohort and radiation cohort included 365, 365, 333 and 138 females with IDD, respectively. Age, stage at diagnosis and lymph node status were significantly associated with overall breast cancer treatment. We identified that age, grade, lymph node status and radiation consult were significantly associated with surgical resection receipt. Among individuals who received surgery, those who were older, who had more advanced stages at diagnosis or who had a family interview were more likely to have mastectomy rather than breast-conserving surgery. Age and lymph node status were significantly associated with receipt of radiation. CONCLUSIONS: Sociodemographic, clinical, cancer-related and health system factors were associated with receipt of breast cancer treatment in a sample of breast cancer patients with IDD. Overall, these findings suggest that health system factors could contribute to disparities in treatment among individuals with IDD diagnosed with breast cancer.

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14. Harada Y, Kamei N, Tsukiyama C, Shiozaki K, Ohyama J, Wada M. Moderating effect of autistic traits on the relationship between peripheral visual processing and facial emotion recognition. Atten Percept Psychophys;2026 (Feb 23);88(3)

Distinct visual processing patterns are one of the underlying mechanisms of atypical facial emotion recognition in individuals with autism spectrum disorder. However, the role of peripheral visual processing, particularly the functional field of view (FFOV), remains unclear. Therefore, this study aimed to examine the relationships among autistic traits, FFOV size, and facial emotion recognition ability. Seventy-five students completed the Autism-Spectrum Quotient (AQ) and then performed facial emotion recognition and FFOV tasks. In the emotion recognition task, participants viewed one of five facial expressions (anger, disgust, fear, happiness, or sadness) on a monitor and selected the word that best described the expression. The FFOV task followed a similar procedure, except that the target digit was presented in the peripheral vision immediately after the facial images disappeared. FFOV size was estimated by fitting psychometric functions to the identification performance of the digits as a function of the target eccentricity. The major findings were: (a) AQ scores did not predict FFOV size, (b) FFOV size was positively correlated with the accuracy of facial emotion recognition, and (c) this correlation became non-significant with lower AQ scores. The findings suggest that peripheral visual processing is associated with facial emotion recognition ability, and that this association varies as a function of autistic traits.

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15. Hindermann M, Wilke JB, Curto Y, Oline SN, Daguano Gastaldi V, Butt UJ, Dadarwal R, Çakır U, Ronnenberg A, Hammerschmidt K, Boretius S, Stoykova A, Tonchev AB, Nave KA, Singh M, Ehrenreich H. Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model. JCI Insight;2026 (Feb 23);11(4)

Among the known genetic causes of syndromic autism spectrum disorders (ASDs) are transcription factor deficiencies. In this regard, haploinsufficiency of the zinc finger and broad complex, tramtrack, bric and brac domain-containing protein 20 (ZBTB20) leads to a prototypical clinical picture, referred to as Primrose syndrome, comprising severe ASD symptoms together with intellectual disability. Here, we present a comprehensive behavioral and phenotypical characterization of Zbtb20+/- mice, a construct valid model of this thus far untreatable human condition. Zbtb20+/- mice exhibited diminished sociability, reduced vocalization, distinct repetitive behaviors, impaired cognitive flexibility, hyperactivity, and hypoalgesia. Magnetic resonance imaging revealed increased volumes of hippocampus, cerebellum, brain matter, and whole brain, confirmed by postmortem brain weight measurements. Due to our previous observation of enhanced ZBTB20 expression in CA1 pyramidal neurons upon recombinant human erythropoietin (rhEPO) injections, we anticipated a mitigating effect through rhEPO treatment of Zbtb20 deficiency/Primrose syndrome. Indeed, after 3 weeks of alternate-day rhEPO injections, a remarkable improvement in the behavioral phenotype was observed. Our results highlight rhEPO as promising treatment for Primrose syndrome.

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16. Ismail H, Abdalla SM, Carman ZT, Sherif M, Lundstrom BN, Eltokhi A. Autism-Related Phenotypes in a Heterozygous Scn2a(R854Q) Mouse Model and Their Partial Rescue via a Potassium Channel Opener. Neuropharmacology;2026 (Feb 20):110889.

The voltage-gated sodium channel Na(V)1.2, encoded by the SCN2A gene, is frequently implicated in neurodevelopmental and neurological disorders, including developmental and epileptic encephalopathy (DEE) and autism spectrum disorder (ASD). Genotype-phenotype studies show that Na(V)1.2 mutations with mixed gain- (GoF) and loss-of-function (LoF) effects are associated with the most severe clinical outcomes. The R853Q mutation in the second gating charge of Domain II reduces current density by 50-60% and was initially classified as a LoF mutation, suggesting reduced neuronal firing. However, this does not fully explain its recurrent association with DEE and severe ASD. Our recent findings indicate that R853Q induces a gating pore current (I(gp)) in the resting state, introducing a GoF component that may increase cortical neuronal excitability. This mixed GoF/LoF effect may underlie the strong clinical phenotypes observed in patients carrying this mutation. To explore this, we generated a mouse model carrying the orthologous R854Q mutation. Behavioral analyses revealed that heterozygous Na(V)1.2(R854Q) mice exhibit ASD-like phenotypes, including impaired social interaction and social novelty, repetitive rearing, and increased risk-taking behaviors. In silico modeling suggests that, in cortical neurons, the net effect of the R854Q mutation is a reduction in neuronal excitability due to decreased sodium conductance, although I(gp) alone increases excitability and partially offsets this reduction. Notably, acute administration of retigabine, a potassium channel opener, rescues specific ASD-related phenotypes, possibly by restoring decreased firing through reduction of slow sodium inactivation. Comparative analysis with Scn2a knockout models, which show similar current reduction, highlights the unique severity of R854Q, suggesting a role of I(gp) in modulating neurobehavioral outcomes and informing potential therapeutic strategies.

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17. Lin L, Li Q, Yue Z, Dai Y, Chen H, Chen Y, Zhu J, Han Y, Yin S, Guan L, Ke X. Beyond Gaze: Affective Synchrony and Sensory-Linked Interactional Profiles as Early Markers of Autism Risk. Autism Res;2026 (Feb 23):e70209.

Identifying early markers for autism spectrum disorder (ASD) is a clinical priority. This study investigated interpersonal affect synchrony (IAS) as a measure of interactional quality in a longitudinal cohort of 90 high-risk infants. We aimed to disentangle its contribution from mutual gaze and identify data-driven social interaction profiles linked to sensory traits. Parent-infant interactions were recorded at 6-18 months; IAS was quantified using Cross-Recurrence Quantification Analysis, and ASD outcomes were determined at 18-24 months. Infants later diagnosed with ASD (n = 25) showed significantly lower IAS (F(1,84) = 5.89, p FDR = 0.023) and synchrony stability (F(1,84) = 5.37, p FDR = 0.023) than non-diagnosed infants (n = 65), yet the groups did not differ in mutual gaze (p = 0.200). Logistic regression analysis further showed that IAS (OR = 0.561, p FDR = 0.038) and synchrony stability (OR = 0.013, p FDR = 0.038) both significantly predict clinical outcome. K-means clustering revealed three profiles: « High Gaze-High Synchrony, » « Mid Gaze-Low Synchrony, » and « Low Gaze-High Synchrony. » The « Mid Gaze-Low Synchrony » profile was significantly associated with a later ASD diagnosis (p adj = 0.031), while the « Low Gaze-High Synchrony » profile was linked to higher sensation-seeking traits (p adj = 0.028). The quality of parent-infant affective connection is a more robust early marker for ASD than the quantity of mutual gaze. These findings reveal critical heterogeneity, identifying a high-risk « gaze without engagement » pattern and a potential adaptive pathway to synchrony, underscoring the need for individualized strategies in early screening and intervention. Emotional synchrony—how well a parent and infant share positive feelings—is already atypical in infants who later develop autism, and this difference occurs regardless of how much time they spend looking at each other. Infants’ unique sensory traits shape how they interact, with some looking away more but still forming strong emotional connections. These findings highlight the importance of supporting diverse, individualized ways for parents and infants to connect. eng

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18. Liu G, Chen L, Guan M, Xiao N. Global trends and future perspectives in autism spectrum disorder and gut microbiota research: a comprehensive bibliometric analysis. Front Neurosci;2026;20:1607951.

BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition. Increasing studies examine whether gut microbiota alterations and the gut-brain axis are linked to ASD-relevant phenotypes. As the literature expands rapidly, a quantitative mapping is needed to clarify influential work and evolving themes. OBJECTIVE: To map global research on ASD and the gut microbiota, identify major contributors and knowledge bases, and characterize thematic evolution and emerging fronts. METHODS: We analyzed 1,391 English-language articles and reviews indexed in the Web of Science Core Collection (1999-2024). CiteSpace, VOSviewer, and R were used to evaluate publication trends, collaboration networks, co-citation structure, keyword clustering, and burst detection. RESULTS: Publication output increased slowly before 2010 and accelerated after 2018. The United States and China were leading contributors and key collaboration hubs. The co-citation core was anchored by landmark experimental and translational studies, including work on microbiome-to-behavior links and microbiome-targeted interventions. Keyword clustering and timeline views highlighted three prominent thematic directions: fecal microbiota transplantation, Rett syndrome, and maternal immune activation. Recurrent and burst keywords emphasized the gut-brain axis, short-chain fatty acids, gastrointestinal symptoms, and oxidative stress. Recent burst terms, including obesity, major depressive disorder, and glutamate, suggest increasing connections to metabolic and broader psychiatric dimensions. CONCLUSION: ASD-microbiome research has shifted from descriptive comparisons toward mechanism-oriented and intervention-relevant questions. Future progress will benefit from standardized protocols, longitudinal designs, and multi-omics integration, together with rigorously designed trials to evaluate microbiome-targeted strategies.

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19. Liu J, Liu T, Nie L, Zhou L, Luo J, Guo L, Zhang X, Gong M, Chen Z, Li X, Fan X. Semaglutide attenuates autistic-like behaviors in BTBR mice through the shaping of gut microbiota. Pharmacol Res;2026 (Feb 20):108149.

Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental condition characterized by deficits in social communication and the presence of repetitive behaviors. The significance of the gut-brain axis in the pathogenesis of ASD often points to a relationship with gut dysbiosis and metabolic disruptions in affected individuals. This study investigates the potential of the glucagon-like peptide-1 receptor agonist, semaglutide, to modulate gut microbiota, metabolic pathways, and neurodevelopmental outcomes using the BTBR T(+) Itpr3(tf)/J (BTBR) mouse model of ASD. Our findings indicate that administration of semaglutide during an early neurodevelopmental stage leads to significant improvements in social behavior, cognitive function, and repetitive behaviors in BTBR mice. This therapeutic effect is associated with the restoration of gut microbiota, as demonstrated by fecal microbiota transplantation from C57BL/6J controls and semaglutide-treated BTBR mice, which ameliorated the ASD behaviors in BTBR mice. Metabolomic profiling identified adrenic acid (AdA) as a crucial mediator; AdA levels in BTBR mice were lower but returned to normal following semaglutide treatment. Additionally, RNA sequencing revealed that hippocampal neurogenesis is associated with semaglutide treatment, and AdA supplementation restored social behaviors and hippocampal neurogenesis. These results highlight the critical role of the gut microbiota-brain axis in the therapeutic effects of semaglutide on ASD and suggest that targeting this axis alongside AdA may represent a promising strategy for ASD.

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20. McNamee M, Green HL, Shen G, DiPiero M, Murray DL, Pearce M, Onyango-Opiyo A, Liu S, Blaskey L, Kuschner ES, Kim M, Franzen RE, Miller GA, Chen Y, Edgar JC. Confirmation of a Useful Dark-Room Resting-State Procedure: Periodic and Aperiodic MEG Activity in Children. Psychophysiology;2026 (Feb);63(2):e70261.

In a previous paper, we showed in children 6-12 years old that a resting-state (RS) eyes-open dark room (DR) task provides RS parietal-occipital alpha measures similar to those obtained using the standard RS eyes-closed (EC) exam. Results provided initial evidence that the RS DR procedure is feasible and useful with populations often excluded from electrophysiology RS studies, such as participants who cannot remain awake with their eyes closed or cannot remain still for an extended period. The present study extended the DR and EC comparisons to a much larger sample of children spanning a wider age range and expanded the analysis strategy to examine RS aperiodic measures (offset and slope [exponent] of the power spectrum) and to evaluate 15 distinct brain regions rather than just the previously examined parieto-occipital RS periodic alpha activity. RS activity was recorded using MEG, here reporting on 147 DR and EC datasets obtained from children (including 23 with evaluable datasets at multiple timepoints) with typical development (TD; N = 69) and children with autism spectrum disorder (ASD; N = 53) 7.7-17.1 years old. Findings showed good reliability in both TD and ASD for the EC and DR parietal-occipital peak alpha frequency (frequency with highest alpha power; interclass correlation [ICC] = 0.84, p < 0.001). The ICC for periodic parieto-occipital PAF power was lower (ICC = 0.65). For offset and exponent, the two RS aperiodic measures, fair to good reliability for both groups was observed between DR and EC at all 15 brain regions (mean and median ICC values 0.77-0.80). Offset and exponent values differed significantly across the 15 brain regions, as did associations between age and both aperiodic measures. Findings confirm that the DR exam is a viable way to obtain RS periodic and aperiodic measures. The lack of TD/ASD differences in the EC and DR periodic and aperiodic ICCs supports the generalizability of the DR procedure. Finally, regional differences in aperiodic measures demonstrate the need to assess aperiodic activity in brain source space rather than scalp sensor space.

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21. Ommensen B, Attwood T, Pachana NA, Sofronoff K. The potential for successful autistic ageing: Proposing a lifespan developmental psychology approach. Autism;2026 (Feb 22):13623613261418468.

Negative misconceptions about the inevitability of declining physical health and cognitive functioning in old age abound in society and in literature on autistic ageing. But there is a paradox of ageing: most older adults in the general population experience increases in life satisfaction and emotional wellbeing in later life that are associated with quality of life and indicative of successful ageing. Parallel patterns of later-life improvement in psychosocial functioning and emotional wellbeing have been found in attention deficit hyperactivity disorder and schizophrenia, which raises the tantalising question: could the paradox of ageing be true for older autistic adults too? Contemporary gerontological research that reconciles the contradictions inherent in this paradox from a lifespan developmental psychology perspective also informs global public health initiatives. These promote healthy successful ageing as a process of recovery, adaptation and growth in later life for people of all abilities. By contrast, there has been relatively little examination of autistic ageing from this perspective. Drawing on analyses of both gerontological and autism literature, this gap is addressed. Lifespan psychology’s potential relevance to the developmental trajectory of autism is explored, and an evidence-based theoretical framework to guide future autism research and clinical practice aimed at promoting successful autistic ageing is proposed.Lay AbstractWhat is already known about this topic?Despite experiencing physical and mental losses as they age, most older people are satisfied with life. They have more positive than negative emotions, and this is related to wellbeing and improved quality of life. According to lifespan psychology, this unexpected pattern is evidence of successful ageing. By contrast, the potential for successful ageing in autism is not well understood. Even though it informs the World Health Organization’s guidelines on healthy ageing, there has been relatively little consideration of lifespan psychology in relation to autistic ageing. The researchers’ aim was to address this gap.What does this article add?This article provides a novel approach to understanding and promoting successful autistic ageing. It describes lifespan psychology and associated models and theories and how they relate to autistic experience. It also explains how and why positive outcomes like quality of life and life satisfaction are realistic goals for older autistic adults.Implications for practice, research or policyLifespan psychology offers an evidence-based framework for guiding future research, policy and clinical practice to help older autistic adults achieve positive life outcomes, productivity, personal growth and wellbeing. Future research should test whether autistic older adults experience the same improvements in social and emotional wellbeing in later life as other groups in the population. This will help to make sure that health policy and clinical support are not based on negative assumptions about autistic ageing that do not reflect real-life experiences. Most importantly, this article shows that by thinking about ageing differently, there are opportunities for all autistic adults to enjoy healthy successful ageing.

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22. Park JH, Kim SJ, Cho SJ, Kwon SH, Kang DW, Lee EK. Age-Specific Patterns in Utilization and Costs of Developmental Rehabilitation Therapy for Children With Autism Spectrum Disorder in South Korea: A Cross-Sectional Survey. J Autism Dev Disord;2026 (Feb 23)

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23. Peter JA, Weiser TA, Batey RT, Niswander LA, Wuttke DS. MECP2 MBD-ID Module: A Unified DNA/RNA Binding Interface Disrupted in Rett Syndrome. bioRxiv;2026 (Feb 15)

Rett syndrome neurodevelopmental disorder is caused by mutations in the gene encoding the epigenetic regulator MECP2. While the MECP2 methyl-CpG binding domain (MBD) is well-characterized, the function of the adjacent intervening domain (ID) remains largely understudied. The ID has been described as a distinct RNA-binding region, yet evidence also suggests RNA competitively displaces MECP2 from DNA. Here, we address these conflicting findings by demonstrating the MBD and ID do not function in isolation but as a synergistic functional unit, establishing a new model for MECP2 function. We show the ID significantly enhances affinity of the MBD for methylated DNA by ∼35-fold. Moreover, together these two subdomains form a high-affinity, promiscuous RNA-binding module, with affinity for structured RNAs increased over 1,000-fold compared to the MBD or ID alone. We find binding to RNA precludes binding to DNA, such that the integrated MBD-ID unit explains the competition phenomenon. Analysis of Rett syndrome-associated ID mutations (R167W, K174Q, and R190H) and a therapeutic MiniGene reveals they do not disrupt methyl-DNA binding but instead selectively weaken RNA and non-methylated DNA binding, thereby disrupting the competitive balance between nucleic acid ligands. Our work establishes the MBD-ID module as MECP2’s central nucleic acid interaction hub, whose disruption provides a potential molecular etiology of Rett syndrome due to mutations in the intervening domain.

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24. Peters VJT, Caspers E, Meijboom BR, Hoofwijk S, Verbeek INE, Gelder CMD, Bok LA. Relocating pediatric, hospital-based care towards preventive care: a qualitative study on modular care provision for children with developmental disabilities. Eur J Pediatr;2026 (Feb 23);185(3)

The aim of this study is to identify tasks and requirements for relocating healthcare for children with developmental disabilities in the Netherlands using a modular perspective. We conducted semi-structured interviews with three pediatricians and four youth public health physicians providing care for children with developmental disabilities in a southeastern region of the Netherlands. Additionally, we conducted ten practice observations. The data were analyzed using thematic analysis. We were able to visualize healthcare provision for children with developmental disabilities. This enabled us to identify modules-collections of tasks-which revealed opportunities and requirements to relocate certain care tasks from pediatricians to youth public health physicians. CONCLUSION: This study identified relocation opportunities for healthcare provision for children with developmental disabilities from pediatric care towards preventive care revealing duplication in care delivery. Also, this study identified five organizational requirements for relocation of care: adequate information and communications technology systems, clear agreements between parties involved, financial arrangements, knowledge and skills, and a shared desire. Relocation offers several potential benefits such as reducing workload and costs and improving care coherence and patient and family satisfaction. WHAT IS KNOWN: • Relocating care-shifting tasks from pediatric care to primary or preventive care- is increasingly used to reduce costs, with evidence showing that such shifts can maintain care quality while lowering risks and expenses. WHAT IS NEW: • We identify the organizational requirements for relocation of healthcare for children with developmental disabilities by revealing which tasks can be relocated and to whom.

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25. Quesnel K, Ellegood J, Lerch JP, Bérubé NG. Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder. Autism Res;2026 (Feb 22):e70205.

Mutations in the ATRX gene are a primary cause of alpha-thalassemia intellectual disability X-linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly. We previously showed that mice with conditional ATRX ablation in forebrain excitatory neurons display deficits in fear memory and autism-related behaviors, with some effects exhibiting sexual dimorphism. In this study, we used high-resolution magnetic resonance imaging (MRI) to systematically characterize brain structural changes associated with these behavioral abnormalities. Whole-brain analysis revealed male-specific microcephaly, while subregional analysis identified significant reductions in hippocampal structures and increased volume of the caudal cortex in mutant animals of both sexes. We also identified structural alterations in regions retaining ATRX expression, such as the thalamus, midbrain, cerebellum, and several fiber tracts. These findings suggest that ATRX loss disrupts the coordinated development of interconnected brain regions. Overall, our results implicate impaired cortico-thalamic-cerebellar connectivity as a potential neural substrate underlying the autistic-like behaviors observed in this mouse model, providing new insights into the neurobiological basis of ATR-X syndrome. Changes in a gene called ATRX are known to affect brain development and are linked to intellectual disability and autism. In our previous work, we found that removing this gene early in brain development caused mice to show behaviors like those seen in people with autism. In this study, we used detailed brain scans to see if these behavioral changes were linked to differences in brain structure. We found that male mice without ATRX had smaller brains and bodies, while female mice did not show the same brain size reduction. However, both male and female mice had smaller areas of the brain important for memory and movement, and larger areas involved in thinking and sensing. We also saw changes in parts of the brain where ATRX was still present, suggesting that early changes in one area can affect how the whole brain develops. These findings help us understand how early disruptions in brain development might lead to autism‐related behaviors. eng

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26. Reischl-Hajiabadi AT, Guilder L, Inbar-Feigenberg M, Aljouda L, Atkinson C, Cruz V, Martin N, Vincent A, Mamak E, Marcadier J, Schulze A. Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening. J Inherit Metab Dis;2026 (Mar);49(2):e70162.

Despite the implementation of newborn screening (NBS), developmental outcomes in individuals with Cobalamin C (CblC) deficiency remain variable, and ocular manifestations are common. Therapy with hydroxocobalamin (OH-Cbl) is recommended by clinical guidelines, and increasing the dosage may improve outcomes. In this study, we evaluated the developmental and ocular outcomes of individuals with CblC deficiency identified through NBS. We conducted a retrospective analysis of 21 patients with CblC deficiency who were referred after abnormal NBS results and were followed at our center for a median of 9.0 years (0.9-16.1 years). Treatment was initiated at a median age of 9 days (range 4-18 days). All patients received OH-Cbl at a median dosage of 0.16 mg/kg/d (range 0.03-0.36 mg/kg/d) over the follow-up period and followed a regular diet. Thirteen patients presented with neonatal symptoms, but at the last follow-up, 52% of individuals had disease-related symptoms, including seizures in one patient and developmental impairment in 10 cases. Neuropsychological testing was performed in 15 patients and showed cognitive impairment in more than half of them. Ten individuals had ocular manifestations with a median age of onset of 17.5 months (range 3-50 months); of these, nine patients had developmental impairment. 48% of patients were asymptomatic at the last follow-up. Despite early intervention, a substantial proportion of individuals exhibited developmental impairments or ocular manifestations, and neonatal onset appears to be associated with disease severity. Early treatment seems to prevent epilepsy. The potential role of genotype-phenotype correlations, particularly in relation to dosage response, warrants further investigation.

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27. Renne T, Benitière F, Poulain C, Dubuc A, Bourque V, Huguet G, Nowakowski T, Jacquemont S. Genetic and Cortical Cell-Type Liability Architecture of Autism. Res Sq;2026 (Feb 13)

Autism Spectrum Disorders (ASD) can result from rare genetic variants interfering with brain development. Whether their effects converge on specific cortical cell types remains unresolved. Previous studies have focused on a narrow set of high-confidence ASD (hcASD) genes, which were enriched in neuronal cell types during prenatal development. By contrast, studies of postnatal cerebral cortex have repeatedly associated ASD with transcriptional changes in both neurons and glia. To comprehensively map ASD genetic liability across cortical cell types, we conducted a functional genetic burden analysis with 124,416 individuals, including ASD probands and unaffected family members. We examined six classes of rare gene-disrupting variants aggregated across a complete spectrum of transcriptomic cell types of the human prefrontal cortex throughout development. We show that cellular liabilities in ASD delineate a broad and developmentally dynamic architecture. Likewise, we uncover high dependency on classes of variants with Loss-of-Function (LoF) and de novo linked to prenatal cells, while duplications, missense, and inherited variants increase liability through postnatal and glial cell types. Notably, inherited LoF variants uncover the contribution of microglia to ASD liability, also supported by transcriptomic evidence from postmortem ASD brains. Finally, we show that overall, variants disrupting genes differentially expressed in postmortem ASD brains significantly contribute to ASD liability, demonstrating convergence between disrupted transcriptomes and genetic liability. Together, our study offers an integrative, cell-type-aware framework for interpreting ASD risk genetics.

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28. Sivathasan S, Crown MJ, Rutenberg E, Brammell S, Thoma BC, Beck K, Conner CM, Mazefsky CA, Rofey D. Mental health and service utilization among cisgender-heterosexual, sexual minority, and gender minority autistic adults. Front Psychiatry;2026;17:1766767.

INTRODUCTION: Autistic people are more likely than non-autistic people to identify as sexual minority (SM) and/or gender minorities (GM), yet mental health research on these intersecting identities remains underexplored. METHODS: Using online self-report data from a large non-referred sample of 712 autistic adults (18-77 years), we compared GM, (cisgender) SM, and cisgender-heterosexual (CisHet) groups on sociodemographics, psychiatric diagnoses, service utilization, as well as current anxiety and depression symptoms. We also ran regression analyses to evaluate associations between sociodemographic characteristics and of lifetime psychiatric diagnosis. RESULTS: Twenty-six percent of participants endorsed having an SM identity, and 15% reported having a GM identity. Despite high rates of psychiatric diagnoses and service use in our sample overall, SM and GM participants reported higher rates of lifetime psychiatric diagnoses, outpatient service use, psychiatric hospitalizations than CisHet participants. SM and GM groups were also more likely to report current use of psychotropic medications, with the exception of antipsychotics, which were more common in the CisHet group. Moreover, regression analyses revealed that after controlling for age, educational attainment, and sex assigned at birth, sexual and gender identity variables were most strongly associated with reported diagnostic outcomes; specifically, SM and GM participants were 2-5 times more likely to report having received depression, anxiety, PTSD, and ADHD diagnoses compared with the CisHet group. CONCLUSION: Our findings add to growing evidence that sexual and gender identities are critical variables to consider in autism research. We observed substantial differences in mental health outcomes across groups, underscoring the need for further investigation to better understand the diverse needs of autistic adults.

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29. Sorice V, Egbury J. Family-centred, culturally sensitive care is needed as parents navigate uncertain feeding, conflicting beliefs and inadequate support for children with developmental disabilities. Evid Based Nurs;2026 (Feb 23)

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30. Sotelo-Orozco J, Taft DH, Al-Oboudi J, Baikie BC, Lake C, Miller M, Mills DA, Tancredi DJ, Schmidt RJ, Hertz-Picciotto I, Bennett DH. Mixed Evidence for Impact of Early Infant Gut Microbiome and Later Development of Autism Spectrum Disorder in the MARBLES Prospective Cohort Study. Autism Res;2026 (Feb 22):e70207.

This study investigated the relationship between early infant gut microbiome composition and subsequent neurodevelopmental outcomes. Fecal samples from children in the markers of autism risks in babies-learning early signs (MARBLES) study, a cohort with elevated likelihood of autism, were collected between 0 and 7 months of age and analyzed using 16S rRNA sequencing to evaluate whether the gut microbial composition during early infancy is associated with later neurodevelopmental diagnoses. Clinical classification as autism spectrum disorder (ASD), non-typically developing without ASD (non-TD), or typically developing (TD) was completed around 36 months of age using gold-standard assessment tools. Overall, no significant differences in alpha diversity or beta diversity, nor any differentially abundant bacterial taxa, were found between groups of infants who developed ASD or non-TD compared to those who went on to have TD. Nonetheless, our findings highlight some early differences in gut microbial composition during infancy that may relate to later neurodevelopmental outcomes. Before adjusting for multiple comparisons, infants who later developed ASD had slightly lower levels of Veillonella and Flavonifractor genera compared to children who were later found to be TD. These results suggest specific bacterial taxa may already differentiate in early infancy, but may be more subtle than other factors, such as mode of delivery and diet during early infancy. To understand longitudinal trajectories of the gut microbiome in association with later neurodevelopment, future studies should include a larger cohort to detect smaller effect sizes or investigate later time points in infancy. The human gut has many types of bacteria, some beneficial and some that may be harmful to health. Together these bacteria are referred to as the gut microbiome. Previous research shows that the bacteria in the human gut may differ in older children diagnosed with autism spectrum disorder compared to typically developing children. Children with autism are known to have problems with their gastrointestinal (GI) tract, though the relationship between GI health and autism is not well understood, particularly how the bacteria in the gut change in early life, before ASD behaviors begin to be seen. This study focuses on the gut microbiome in the first 7 months after birth and its relation to later development of autism, examined at 36 months of age. We found no major differences in the gut microbiome of infants who developed autism compared to those who did not. However, infants who later developed autism had slightly fewer of two bacteria types (Veillonella and Flavonifractor) early in life compared to infants who developed typically. However, these differences are minor compared to other factors, like whether the baby was born by C‐section or what they ate, which might matter more for the gut microbiome composition at this age than their later developmental diagnosis. eng

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31. Su X, Jin X, Sun B, Li X, Yi L. Peer rejection as a mediator between socio-emotional function and internalizing symptoms in autistic adolescents. Autism;2026 (Feb 22):13623613261421433.

Peer rejection is a distressing experience, which has been found to mediate the association between socio-emotional function and internalizing symptoms in neurotypical adolescents. To examine whether peer rejection statistically links socio-emotional function and internalizing symptoms in autistic adolescents, we measured their socio-emotional function (social skill, alexithymia, empathy), peer rejection, and internalizing symptoms. Autistic adolescents (N = 71), aged between 10 and 16 years (M = 12.73 years), completed questionnaires measuring peer rejection, socio-emotional function (alexithymia, empathy), and internalizing symptoms (depression, anxiety, social anxiety), and their parents completed the Autism-Spectrum Quotient questionnaire measuring adolescents’ social skills. Our results revealed that peer rejection was associated with internalizing symptoms, and peer rejection mediates the relationships between socio-emotional function (social skill, alexithymia, empathy) and internalizing symptoms. These findings underscore the importance of relational factors in the mental health of autistic adolescents and highlight the importance of addressing peer rejection through inclusive practices and social acceptance initiatives.Lay abstractTeenagers often find peer rejection distressing. It is also linked to mental health issues such as anxiety and depression. For autistic adolescents, experiencing peer rejection is even more common, but its associations with mental health are less understood. This study aimed to find out if peer rejection is related to anxiety and depression in autistic adolescents. We also wanted to see how social skills, emotional awareness (alexithymia), and empathy relate to peer rejection, and whether these associations extend to emotional distress (depression, anxiety, social anxiety). We surveyed autistic adolescents aged 10 to 16 about their social experiences, socio-emotional function, and emotional distress. Their parents provided social-skill information. Autistic adolescents who felt more rejected by their peers had higher levels of emotional distress. Moreover, teens who struggled more with social skills and emotional functions tended to feel more rejected by peers and to experience higher levels of emotional distress. Our findings suggest that relationships play a crucial role in the mental health of autistic adolescents. While building individual social and emotional skills is important, fostering supportive peer environments may also play a key role in promoting their well-being.

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32. Vento CD, Hatfield-King J, Gopinath K, Nishitani S, Morrier M, Ousley O, Cubells JF, Young LJ, Andari E. Generating Biologically Relevant Subtypes of Autism Spectrum Disorder with differential responses to Acute Oxytocin Administration in a Randomized Trial using Random Forest Models and K-means Clustering. medRxiv;2026 (Feb 14)

Autism Spectrum Disorder (ASD) is a heterogenous condition that has no biologically relevant subtypes yet. Here, we utilized a multidimensional approach considering social deficits in ASD alongside negative valence and empathy dysfunction to distinguish ASD from Neurotypicals (NT) and to generate ASD subtypes using machine learning approaches. 114 subjects were analyzed, with 70 being NT and 44 ASD, all male with an IQ greater than 70, with 5 domains of personality (NEO-PI-r) and Reading the Mind the Eyes Test (RMET) scores included in the main classifier. We then used a multitude of behavioral (such as IQ, Broader Autism Phenotype, Autism Quotient, Interpersonal Reactivity Index) and clinical measures such as Autism Diagnostic Interview-Revised (ADI-R) alongside biological methods including DNA methylation of OXTR gene and resting-state functional connectivity (rsFC) to validate the putative subtypes. 30 ASD who received IN-OXT in a randomized, placebo-controlled, within-subject design and 17 new NT were part of the rs-FC analysis. A random forest tree algorithm was used to classify NT and ASD and Shapley Additive Explanation Values were used to describe the model and to cluster ASD subtypes using K-Means clustering. Three subtypes were generated with two of them being highly distinctive in behavioral and brain functional traits. One subtype named NASA (or Negative Affect and Social Aloofness) was characterized by high Neuroticism and Low warmth alongside lower rsFC between networks involved in social cognition, self-awareness, and sensory processing, such as Superior Temporal Sulcus and Sensorimotor Network; or ACC/Insula with visual cortex, Posterior Cingulate Cortex and visual cortex. The second subtype NADR (Neurocognitive and Affect Dysregulation with Resistance to Change) was characterized by higher DNA methylation of OXTR , hyperconnectivity between default mode network, reward areas and inferior frontal and fusiform networks. NADR has more cognitive difficulties and higher ADI-R scores as well as higher Neuroticism, higher personal distress, higher rigidity and lower openness. In a mixed model analysis, we found that IN-OXT in a dose dependent manner impacted NASA subtype by modulating rsFC between PCC and cerebellum and between Brainstem/Cerebellum and Parietal cortex to probably enhance social cognition and to reduce negative valence in this subtype.

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33. Verhagen C, Boekhorst M, Kupper N, Leeuwis F, Duijndam S. Associations between Parental Protective Factors and Child Behavioral Problems in Children with ADHD and ASD. J Dev Phys Disabil;2026;38(1):165-180.

Previous research in neurodivergent children has shown a relation between parental risk factors and child internalizing and externalizing behaviors. Yet, a paucity of studies has examined the association between parental protective factors and child outcomes. This study investigated the association between parental empowerment and resilience and the degree of internalizing and externalizing behaviors in children with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Data were collected through the the In Kaart register between September 2022 and February 2024. Children aged 5 to 15 years (M = 11.1, 32.9% female) with a diagnosis of ADHD and/or ASD were included. Parents (97.1% mothers) filled in questionnaires about their levels of resilience and empowerment, and about their children’s behavioral problems. Hierarchical regression analyses revealed that younger child age and higher levels of parental resilience were associated with more externalizing behaviors. Child age did not significantly moderate the relation between resilience and externalizing behaviors. Nevertheless, the pattern observed in the data suggested potential age-related differences in how parental resilience is associated with child behavior. The preliminary findings suggest that resilience might be a mechanism for adapting to increased parenting demands associated with raising a neurodivergent child with problem behaviors. Furthermore, parental empowerment may not be directly associated with child problems, giving room for future research to delve into other factors that play a role in the association between parental protective factors and child outcomes. The current findings highlight the need to examine this relation in larger, more diverse samples.

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34. Wattegama D, Black B, Moen M, Shyu CR. RAG vs Reddit: Decoding Autism Conversations on Reddit with LLMs and Topic Modeling. AMIA Annu Symp Proc;2024;2024:1345-1354.

Social media platforms like Reddit have become vital spaces for autistic individuals and caregivers to seek advice, share experiences, and discuss challenges. Simultaneously, Large Language Models (LLMs) are increasingly used to provide medical guidance. This study examines autism-related discussions on Reddit, comparing them with clinician-patient discussions and evaluating the effectiveness of an autism-specific Retrieval-Augmented Generation (RAG) system. We applied BERTopic to identify key discussion themes in r/autism and r/autism_parenting, revealing significant discussions around behavioral challenges, and practical support. Comparing clinical messages from the University of Missouri Thompson Center for Autism and Neurodevelopment, we found caregivers in clinical settings focused more on medication management, whereas online discussions emphasized non-traditional therapies. We then assessed LLM-generated responses against Reddit peer advice, discussing the differences in accuracy, relevance, empathy and helpfulness. This work underscores the potential of RAG systems in enhancing autism-related guidance while emphasizing the importance of community-driven insights in healthcare conversations.

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35. Wolfart R, Rodriguez MA, Gray DM, Bruk-Lee V. Supervisory Competencies that Matter: Insights from Employees with an Intellectual and/or Developmental Disability. DADD Online J;2025 (Dec);12(1):102-122.

Individuals with an intellectual and/or developmental disability (ID/DD) remain underrepresented in competitive integrated employment settings due to various workplace barriers, with one key challenge being the lack of supervisor preparedness to effectively support and manage this population (Heron & Bruk-Lee, 2023). Targeted initiatives to enhance workplace inclusion for individuals with an ID/DD are essential to fostering a diverse and equitable labor force. This study contributes to these efforts by investigating the competencies individuals with an ID/DD perceive as critical for effective supervision. Through qualitative interviews and an importance rating task, 14 participants with an ID/DD identified key supervisory knowledge and skills necessary for facilitating their success at work. The findings from this study provide insights to inform the development and refinement of training programs designed to enhance supervisors’ capacity to support and manage employees with an ID/DD effectively.

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36. Żuromski D, Pacholik-Żuromska A. Intercultural Cognitive Pragmatics as a tool for understanding autism. Front Hum Neurosci;2026;20:1729076.

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