Pubmed (TSA) du 27/02/26
1. Adıgüzel E, Bağçovan B, Bozkurt NM, Ünal G, Waszkiewicz N. Intermittent Fasting and Akkermansia muciniphila Exert Independent and Combined Benefits on Behavioral and Neurobiological Deficits in a VPA-Induced Autism Rat Model. Nutrients. 2026; 18(5).
Background/Objectives: Autism is a complex neurodevelopmental condition characterized by social and cognitive impairments, with growing evidence implicating neuroinflammation, disrupted autophagy, apoptosis, GABAergic dysfunction, and gut permeability in its pathophysiology. Thus, this study aimed to evaluate the independent and combined effects of intermittent fasting (IF) and the next-generation probiotic Akkermansia muciniphila on behavioral outcomes and molecular markers in prenatal valproic acid (VPA)-induced autism model. Methods: Male rat offspring were allocated into five groups (n = 8 per group): control, VPA, IF, probiotic, and IF + probiotic. The groups other than the control group were exposed to 500 mg/kg VPA prenatally to establish an autism model. Intermittent fasting (16:8 time-restricted feeding) and Akkermansia muciniphila (1 × 10(9) cfu/day) were applied for 30 days. Behavioral tests (stereotypy, social interaction, memory, and anhedonia) were performed during the last eight days of the treatment period, and the rats were sacrificed the following day for collection of brain tissue and serum samples. Proinflammatory, apoptotic, autophagic, and GABAergic markers were measured in the prefrontal cortex and hippocampus, while zonulin levels were measured in the serum. Data were analyzed using one-way ANOVA followed by Tukey’s post-hoc test. Results: Prenatal VPA exposure worsened all behavioral and molecular parameters. All treatments improved stereotypy, social interaction, and memory, whereas anhedonia improved only in the combined treatment group. The treatments also decreased neuroinflammation and apoptosis-related imbalance while enhancing autophagy and GABAergic markers. In terms of apoptosis- and autophagy-related markers, the IF-only and probiotic-only treatments were effective in the prefrontal cortex, while the IF + probiotic treatment showed its effect in both brain regions. Lastly, all treatments were successful in alleviating elevated serum zonulin levels. Conclusions: Intermittent fasting and Akkermansia muciniphila alleviate VPA-induced behavioral and neurobiological impairments. The combined treatment, in particular, offers stronger and multi-targeted therapeutic potential.
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2. Ashburner J, Tomkins V, Downing C, Reitberg E, Hill J, Copley J, Bobir N. « My Sensory Experiences Tool »: A Neurodiversity-Affirming Therapeutic Tool to Support the Sensory Challenges and Preferences of Autistic Children and Adults. Occup Ther Int. 2026; 2026: 4779496.
BACKGROUND: My Sensory Experiences Tool (MYSET) is a picture-based card-sort tool designed to support conversations with autistic people about their sensory experiences with a view to enabling better understanding and accommodation of their sensory challenges. PURPOSE: This study aimed firstly to describe MYSET and the considerations that guided the development of the tool, and secondly to explore the perceptions of autistic people, family members and professional practitioners of the usefulness of MYSET and ways it could be improved. METHOD: We gathered the perspectives of 18 professional practitioners, five autistic individuals and four family members through semi-structured interviews and focus groups. The data was analysed through inductive content analysis. FINDINGS: The participants perceived that MYSET enabled the gathering of individualised qualitative information about the person’s sensory experiences. MYSET was also perceived to be accessible, including people ranging in age from 5 years to adulthood and people with abilities ranging from mild intellectual disability to average/high IQ. The tool facilitates conversations about the links between the person’s sensory responses and their daily life experiences. A key perceived outcome of MYSET was the enhancement of others’ capacity to understand and accommodate the autistic person’s sensory challenges. The tool was refined in response to participant feedback. CONCLUSION: MYSET enables the gathering of detailed, individualised qualitative data on the sensory experiences of an autistic person and the collaborative design of accommodations that are compatible with their lifestyle.
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3. Assadi M, Koiler R, Ally R, Fischer R, Scott R. iTBS Stimulation of the Bilateral IFG/IPL Alters the Oscillatory Pattern in ASD. Brain Sci. 2026; 16(2).
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairments in social communication, reciprocity, and adaptive behavior. Converging neurobiological evidence suggests that these clinical features arise from aberrant connectivity and dysregulated neuronal oscillations across distributed brain networks. In particular, dysfunction within the mirror neuron regions, concentrated in the inferior frontal gyrus (IFG) and inferior parietal lobule (IPL), has been implicated in deficits of imitation, empathy, and social cognition in ASD. Non-invasive neuromodulation using repetitive transcranial magnetic stimulation (rTMS) has shown modest behavioral benefits in ASD. However, most studies apply the conventional protocols targeting the dorsolateral prefrontal cortex. The effects of intermittent theta-burst stimulation (iTBS), a potent excitatory rTMS protocol targeting the mirror neuron regions, on the oscillatory dynamics in ASD remain largely unexplored. OBJECTIVE: To investigate whether iTBS targeting the bilateral IFG and IPL modulates EEG-derived oscillatory activity in adolescents with ASD and to explore the relationship between oscillatory changes and social reciprocity. METHODS: Six adolescents with Level I or II ASD (ages 13-18) underwent bilateral iTBS targeting the IFG and IPL using a figure-of-eight coil and standardized theta-burst parameters. Participants were randomized to receive either 18 active iTBS sessions or a waitlist-controlled crossover design (9 sham followed by 9 active sessions). Standard 21-channel EEG recordings were obtained during the first (EEG-1) and final (EEG-2) active stimulation sessions, including pre- and post-stimulation epochs. Power spectral analyses were conducted across frequency bands (delta through gamma). Behavioral outcomes were assessed using the Childhood Autism Rating Scale, Second Edition (CARS2), administered pre- and post-intervention. RESULTS: All participants tolerated the intervention without adverse effects. Behavioral analysis demonstrated a significant reduction in CARS2 scores following iTBS and is reported in detail in our prior clinical outcomes manuscript, consistent with improved social reciprocity (p < 0.001). EEG analysis revealed an immediate post-stimulation increase in gamma-band power during EEG-1 in five of six participants, whereas lower-frequency bands exhibited variable responses. In contrast, EEG-2 showed no consistent post-stimulation gamma enhancement. Net comparisons between EEG-1 and EEG-2 demonstrated attenuation of the initial gamma response in the same five participants. At the group level, gamma percent change did not reach statistical significance at EEG-1 (p = 0.12) or EEG-2 (p = 0.66), and exploratory comparisons between the 9-active versus 18-active arms did not reach statistical significance. While ipsi-directional changes in gamma power and CARS2 scores were observed in four participants, correlation was not identified in this pilot sample. CONCLUSIONS: Bilateral iTBS targeting the IFG and IPL induces a transient enhancement of gamma oscillations in adolescents with ASD that attenuates with repeated stimulation. This pattern is consistent with adaptive homeostatic plasticity (metaplasticity) within excitatory-inhibitory circuits, potentially mediated by GABAergic interneurons. These findings support the feasibility of EEG as an objective biomarker of neuromodulatory engagement in ASD and highlight the importance of network-level and oscillatory mechanisms in interpreting therapeutic responses. Larger, sham-controlled studies incorporating multimodal biomarkers are warranted to clarify clinical relevance and optimize personalized neuromodulation strategies.
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4. Baig TI, Jing J, Hu P, Niu B, Yang Z, Biswal BB, Klugah-Brown B. Multi-Site Classification of Autism Spectrum Disorder Using Spatially Constrained ICA on Resting-State fMRI Networks. Brain Sci. 2026; 16(2).
Background/Objectives: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by differences in social communications and restricted, repetitive patterns of behaviors and interests, affecting approximately 1% of children globally. While functional magnetic resonance imaging (fMRI) has provided insights into altered brain connectivity patterns in ASD, classification based on neuroimaging remains a challenging due to the heterogeneity of the disorder and variability in imaging data across sites. This study employs a network-based approach using large-scale, multi-site rs-fMRI dataset from the Autism Brain Imaging Data Exchange (ABIDE I and II) to classify ASD and healthy controls using machine learning. Methods: A semi-blind Independent Component Analysis method, specifically the spatial constraint reference ICA, is applied to identify functional brain networks, and the ComBat harmonization technique is used to address site-specific variability across 11 independent datasets, ensuring consistency in feature representation. Support Vector Machines (SVMs) are employed for classification, focusing on three key networks: the Default Mode Network (DMN), Sensorimotor Network (SMN), and Visual Sensory Network (VSN). Results: The results demonstrate high classification accuracy, with the VSN achieving the highest performance (83.23% accuracy, 87.90% AUC), followed by the DMN (81.43% accuracy, 84.53% AUC) and the SMN (80.52% accuracy, 84.96% AUC), positioned with their recognized roles in social cognition and sensory-motor processing, respectively. Conclusions: The integration of ICA-based feature extraction with ComBat harmonization significantly improved classification accuracy compared to previous studies. These findings point out the potential of network-based approaches in ASD classification and point out the importance of integrating multi-site neuroimaging data for identifying reproduceable network-level features.
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5. Brahim T, Carpine L, Young H, Turq A, Fonseca DD, Gerardin P, Bat-Pitault F. The Contribution of ASD Comorbidity to Sleep Disorders in Patients With AN. Eur Eat Disord Rev. 2026.
INTRODUCTION: Sleep disorders are frequently reported in individuals with anorexia nervosa (AN). Autism spectrum disorder (ASD) is strongly associated with both anorexia nervosa and sleep disturbances. We study the possible influence of the association of ASD to AN to the development of sleep disorders. METHOD: A retrospective cohort study design was used, including all patients followed for AN or ASD in the child and adolescent psychiatric unit at the Salvator hospital, Marseille, between January 2019 and January 2024. We had included 491 patients, mean age was 15.16 years ± 3.11 years. Sleep was assessed with the PSQI, ESS and ISI; autistic traits with the Autism-Spectrum Quotient (AQ). RESULTS: Sleep disorders were significantly more prevalent in the anorexia nervosa binge/purge subtype group than the Anorexia nervosa restrictive subtype or the ASD groups with pathological scores in the PSQI in 78% (p < 10-3), ISI in 46.3% (p = 0.035) and in the ESS in 58.5% (p = 0.017). The prevalence of sleep disorders was significantly higher in AN patients having pathological AQ score. However, when controlling for confounding factors, this association was no more significant. CONCLUSION: Our findings were inconclusive in establishing a clear association between autistic traits and sleep disorders in individuals with anorexia nervosa. However, a potential influence cannot be ruled out.
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6. Cardona B, Choi HM, Lyall K, Hart JE, James P, Weisskopf MG. Association between greenspace exposure before, during, and after pregnancy and autism spectrum disorder in offspring. J Expo Sci Environ Epidemiol. 2026.
BACKGROUND: Greenspace exposure in the period surrounding pregnancy may influence autism spectrum disorder (ASD) risk in offspring by reducing risk factors or mitigating effects through various pathways. Current research is limited but suggestive. OBJECTIVE: We explored the association between greenspace exposure during pregnancy and ASD risk, assessing potential periods of susceptibility: 3 months preconception; first, second, and third trimester; and 3 months post-birth. METHODS: We conducted a nested case-control study within the Nurses’ Health Study II (NHSII), a US prospective cohort followed up biennially. Cases were children of NHSII participants who were maternally reported to have ASD (n = 245). Controls were randomly selected from the full cohort and frequency matched to cases by birth year (n = 1526). Greenspace exposure was assessed using the satellite-based normalized difference vegetation index (NDVI) measured within 270 m and 1230 m radial buffers of the residential address of participants. Temporally matched, time-linked NDVI was used to calculate greenspace exposure for each potential period of susceptibility. Multivariable adjusted logistic regression models were applied to obtain effect estimates. RESULTS: Greenspace exposure during pregnancy was inversely associated with ASD risk when NDVI was measured within a 270 m radial buffer of the residential address. Specifically, an interquartile range (0.144) increase in NDVI during the first trimester decreased the odds of ASD by 25% (odds ratio=0.75, 95% confidence interval: 0.56, 0.99) in a model adjusting for other time periods of exposure. There was no other 3-month exposure period significantly associated with ASD. Adjusting for PM(2.5) did not change results. The analysis of NDVI measured within a 1230 m radial buffer showed weaker and inconsistent associations. SIGNIFICANCE: This study found that greenspace exposure during pregnancy was inversely associated with ASD, with the first trimester being a critical exposure period. Implications for urban and city design provide compelling reasons to increase research in this field. IMPACT STATEMENT: Ours is the first study to report an inverse association between greenspace exposure during pregnancy and autism spectrum disorder risk in offspring that was specific to the first trimester. An interquartile range increase in satellite-based normalized difference vegetation index exposure (0.114) within a 270 m radial buffer of the residential address decreased the odds of ASD by 25% (odds ratio=0.75, 95% confidence interval: 0.56, 0.99). Future research is warranted to confirm these findings in other populations and explore the pathways by which greenspace may mitigate risk. Implications for urban and city design provide compelling reasons to increase research in this field.
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7. Carroll R, Braswell AA, Roberto A, Estrem H, Prentice CR. Examining Gastrointestinal, Feeding, Sleep, and Anxiety-Related Disorders Among Autistic Pediatric Patients. J Pediatr Health Care. 2026.
INTRODUCTION: This study examines the prevalence of gastrointestinal, feeding, sleep, and anxiety-related disorders among autistic and nonautistic children and adolescents, controlling for social and environmental factors. METHODS: We performed chi-squared tests, two-sample t-tests, and multivariate logistic regressions on a sample of data extracted from a health information exchange with records on over 3 million patients in Southeastern North Carolina. RESULTS: Results for our primary variable of interest-autism status-are consistent across all models and show that autistic children and adolescents are significantly more likely to have gastrointestinal, feeding, sleep, and anxiety-related disorders than nonautistic children and adolescents. DISCUSSION: This study highlights critical intersections between physical and mental health among autistic pediatric patients. Unexpected missing diagnoses among autistic children in our sample could suggest the need for holistic screening practices among advanced pediatric providers in this population. Our findings carry important implications for psychiatric, primary, and specialty care providers.
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8. Çelen Yoldaş T, Şişmanlar Eyüboğlu T, Uğraş Dikmen A, Aslan AT. Parental Experiences and Coping Strategies of Families Caring for a Child With Cystic Fibrosis. Pediatr Pulmonol. 2026; 61(3): e71534.
INTRODUCTION: Receiving a diagnosis of cystic fibrosis (CF) is often a life-shattering experience for families. Ongoing support from healthcare professionals who understand the realities of living with CF is essential. We aimed firstly to evaluate the disease-related experiences and coping strategies of families with young children diagnosed with CF and secondly to identify the unmet needs of this vulnerable population considering the risk of developmental delays. METHODS: An in-depth interview was conducted with each child’s family individually, and the researcher recorded their responses using thematic analysis. Following the qualitative interview, the ASQ was administered for developmental screening of children. Sociodemographic and disease characteristics were also recorded on the case interview form. RESULTS: Twenty children aged 3-72 months with CF and their families were included in the study. The main themes of parental experiences were emotions, future concerns, stigmatization, and difficulty in caregiving. Their coping strategies as themes were religious beliefs, getting help, relaxation strategies, adherence to treatment, and organizing social life. Among the children, 20% had developmental delays in at least one domain, with no differences in sociodemographic or disease characteristics compared to those without developmental delays. One had a global developmental delay requiring educational, financial, and psychological support. CONCLUSIONS: This study describes how families develop their unique way of managing illness in the early years of life. Healthcare professionals should identify challenges and be aware of the potential actionable unmet needs of families, providing the necessary support holistically by understanding the realities of living with CF in early childhood.
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9. Chen K, Wang H. Discovery of Disease Relationships via Transcriptomic Signature Analysis Powered by Agentic AI. Pac Symp Biocomput. 2026; 31: 799-814.
Modern disease classification often overlooks molecular commonalities hidden beneath divergent clinical presentations. This study introduces a transcriptomics-driven framework for discovering disease relationships by analyzing over 1,300 disease-condition pairs using GenoMAS, a fully automated agentic AI system. Beyond identifying robust gene-level overlaps, we develop a novel pathway-based similarity framework that integrates multi-database enrichment analysis to quantify functional convergence across diseases. The resulting disease similarity network reveals both known comorbidities and previously undocumented crosscategory links. By examining shared biological pathways, we explore potential molecular mechanisms underlying these connections-offering functional hypotheses that go beyond symptom-based taxonomies. We further show how background conditions such as obesity and hypertension modulate transcriptomic similarity, and identify therapeutic repurposing opportunities for rare diseases like autism spectrum disorder based on their molecular proximity to better-characterized conditions. In addition, this work demonstrates how biologically grounded agentic AI can scale transcriptomic analysis while enabling mechanistic interpretation across complex disease landscapes. All results are publicly accessible at https://github.com/KeeeeChen/Pathway_Similarity_Network.
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10. Chen S, Qiu Z, Peng Q, Liu L, Wu Y, Li Y, Zhang C, Yang X, Ma P. A potential risk of plastic and plasticizer pollution: a molecular toxicological study on DIDP-exacerbated autism-like behaviors in juvenile mice. Toxicol Res (Camb). 2026; 15(1): tfaf168.
Plastic pollution and childhood health are two significant public health issues worldwide. However, there is a lack of corresponding toxicological studies to confirm this association, and the molecular pathological mechanism behind it remains unknown. Here, we utilized DIDP as a proxy to examine the association. A mouse model of autism-like behaviors was successfully constructed using the early social deprivation (ESD) approach. Social deficits were evaluated through the three-chamber social preference test, while cognitive impairments were assessed using the Morris water maze test. Various metrics, including oxidative stress (ROS, GSH, MDA, and 8-OHdG), inflammatory response (IL-6/TNF-α), and pathological impairments in brain tissue, were examined. Additionally, we explored the mediation of oxidative stress signaling pathways as molecular pathological mechanisms and investigated the preventive and therapeutic effects of vitamin E (VitE) on social disorders. The results indicate that mice exposed to the plasticizer DIDP exhibited oxidative stress, pathological damage, and inflammatory responses in the hippocampal region of the brain. Additionally, behavioral tests revealed that these mice displayed social deficits and cognitive impairments. However, upon administration of VitE, the mice exhibited significant improvement in social deficits and cognition impairments. The study finds that exposure to the plasticizer DIDP exacerbates autism in mice, possibly through the molecular pathological mechanisms of oxidative stress and inflammation in brain tissue. Furthermore, VitE is found to have a noteworthy protective effect against the worsening of autism caused by exposure to the plasticizer DIDP.
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11. Cheng Y, Zhang L, Li Y, Zheng C, Ma T, Sun Z. The Gut Microbiota-Tryptophan-Brain Axis in Autism Spectrum Disorder: A New Frontier for Probiotic Intervention. Microorganisms. 2026; 14(2).
Tryptophan (Trp) metabolism is involved in regulating various physiological and pathological processes, including neurological function, immune response, and gut homeostasis. This article focuses on autism spectrum disorder (ASD) and explores its relationship with abnormalities in the gut microbiota-Trp-brain axis. Studies have shown that ASD patients exhibit Trp metabolism disorders, with gut microbiota dysbiosis inducing systemic inflammation, activating indoleamine 2,3-dioxygenase 1 (IDO1), and promoting increased Trp entry into the kynurenine pathway (KP). This leads to a series of pathological changes, including the production of neurotoxic substances, serotonin system disorders, and impaired intestinal barrier function, which in turn exacerbate ASD symptoms through the gut-brain axis. Furthermore, based on preclinical and clinical studies, we have summarized that specific probiotic strains (such as Lactobacillus and Bifidobacterium) can alleviate the clinical manifestations of ASD by regulating the gut microbiota-Trp metabolic axis, improving immune responses, and enhancing intestinal barrier function. We emphasize that current probiotic interventions still face challenges such as insufficient long-term safety assessments and unclear molecular mechanisms. Future research should combine multi-omics technologies and multi-modal approaches to promote the development of personalized and precise intervention strategies. In summary, this review highlights the crucial role of tryptophan metabolism in ASD and the potential of probiotics as a novel adjunctive therapy targeting this metabolic pathway.
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12. Dana H, Kocum F, Yilmaz ON, Avci V, Demi̇rci̇ E, Sener EF. Developmental and sex-specific expression of alpha-synuclein in blood and hippocampus of Cc2d1a mice: Implications for autism spectrum disorders. J Psychiatr Res. 2026; 197: 177-86.
PURPOSE: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social interaction and the presence of restricted, repetitive behaviors. It involves alterations in brain structure and function due to a combination of genetic, epigenetic, and environmental factors. The Cc2d1a gene is a recently identified candidate gene implicated in ASD. Alpha-synuclein (Snca), a presynaptic neuronal protein classically linked to neurodegeneration, has recently been proposed as a potential player in neurodevelopmental disorders. This study investigated the expression of the Snca gene and protein in a Cc2d1a mouse model of autism, focusing on sex-based and developmental stage differences. METHODS: Blood and hippocampal tissues were collected from male and female mice with heterozygous (+/-) and wild-type (+/+) genotypes at postnatal days 14, 30, and 60. Gene and protein expression levels of Snca were analyzed using quantitative real-time PCR (qRT-PCR) and ELISA. Behavioral tests were used to assess locomotor activity and anxiety. RESULTS: Male mice displayed higher locomotor activity than females in the open field test across developmental stages. At postnatal day 60, Snca mRNA expression increased in heterozygous females but decreased in wild-type females, whereas the opposite pattern was observed in males. Similar genotype- and sex-dependent trends were detected in hippocampal tissue. At the protein level, α-synuclein expression was consistently lower in the female hippocampus compared to males, while blood α-synuclein levels did not differ significantly between sexes. CONCLUSION: These findings demonstrate developmental and sex-specific differences in Snca expression in an ASD mouse model. Alpha-synuclein may serve as a promising biomarker for further studies in ASD pathophysiology.
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13. DelRosso LM, Estrada Chaverri L, Ceballos Fuentes FA. IronDeficiency Across Neurodevelopmental Disorders: Comparative Insights from ADHD and Autism Spectrum Disorder. Children (Basel). 2026; 13(2).
Background: Iron plays a crucial role in neurotransmitter synthesis, myelination, and neuronal metabolism. Iron deficiency has been associated with a variety of neurodevelopmental disorders, particularly attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). However, the prevalence, clinical impact, and treatment implications differ between these conditions. Objective: To synthesize current evidence on the prevalence, neurobehavioral consequences, and therapeutic implications of iron deficiency in ADHD and ASD, highlighting convergences and disorder-specific findings. Results: In ADHD, studies using serum ferritin and related peripheral markers show inconsistent associations with core symptom severity, with reported ferritin thresholds for deficiency ranging widely. While some studies suggest links between low ferritin and hyperactivity, inattention, or stimulant response, others report null findings. In contrast, emerging neuroimaging evidence consistently demonstrates reduced brain iron in dopaminergic regions in children. In ASD, the strongest link is between low ferritin and sleep-related motor disturbances, and iron supplementation may improve sleep and motor symptoms. Conclusions: Screening for iron status and targeted supplementation may improve sleep and behavioral outcomes in ADHD and ASD, meriting integration into clinical practice and further randomized controlled trials.
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14. Deng Y, Yang L, Chen J. Topic Modeling of Social Media Discourse of Autism Support Groups. Behav Sci (Basel). 2026; 16(2).
Social media platforms serve as critical channels for autism support groups to communicate and seek assistance. This study employed Latent Dirichlet Allocation (LDA) topic modeling to analyze discourse patterns within the Autism Bar on Baidu Tieba, a major Chinese social media. A dataset of 14,151 posts was collected through web crawling, with 12,667 posts retained after preprocessing. The analysis revealed two key findings: (1) The discourse among autism support communities on Baidu Tieba focuses on four central themes: intervention and therapy, early educational journey, early symptom detection and family interaction, and access to educational resources and community support. (2) Sociocultural factors exert a significant influence on autism-related discourse, particularly in shaping societal attitudes toward individuals with autism and the formation of support networks. Traditional Chinese cultural values, such as collectivism and familial centrality, impact the behavioral patterns and decision-making processes of families with autistic children. This study has demonstrated the unique needs and challenges faced by the autism support community, while also informing strategies to promote social media platforms as spaces for support and information exchange. The findings have practical implications for designing targeted interventions and support mechanisms for individuals with autism and their families.
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15. Eisenhut M, Jeevan A. Assortative Mating and Increase in Prevalence and Severity of Autistic Spectrum Disorder in Children-A Systematic Review. Children (Basel). 2026; 13(2).
Background/objectives: The prevalence of autistic spectrum disorder has been increasing rapidly in the world population and the cause of this increase is unknown. Autistic spectrum disorder is an important cause of social, communication and specific learning difficulties in children. Assortative mating may increase the genetic burden leading to manifestation of polygenic diseases affecting mental health in the offspring. Correlation of scores in the social responsiveness scale (SRS), which is used to quantify autistic spectrum disorder features, between spouses, has been used as indicator of phenotypic assortative mating. We investigated whether assortative mating is involved in increased severity of autism spectrum disorder in the offspring. Methods: All studies reporting on investigation of assortative mating in relationship to autistic spectrum disorder were included. Information sources were PubMed, EMBASE and the Cochrane Library. Results were synthesized by entering correlation analyses of results of the SRS conducted in spouses in a meta-analysis. A sub-group analysis was performed comparing spouses with offspring with diagnosed autistic spectrum disorder to spouses without. Prevalence of autistic spectrum disorders in children in countries with and without predominant assortative mating was compared. Results: A total of 14 investigations of assortative mating including 9914 spouse pairs were included. In total, 8 studies (4641 spouse pairs) reported intra-class correlation (ICC) or Spearman’s correlation coefficients between spouses’ SRS scores. There was a significant correlation of SRS scores in studies using ICC or Spearman’s correlation with a pooled coefficient = 0.37. Spouse pairs (n = 401) with offspring diagnosed with autistic spectrum disorder had a pooled ICC coefficient which was 0.278 (95% CI 0.08 to 0.46), significantly lower than spouse pairs without (n = 1525): 0.40 (95% CI 0.35 to 0.46). Higher scores in SRS of both spouses were associated with higher scores and more autism diagnoses in offspring. Pooled prevalence of autistic spectrum disorder in children in countries where assortative mating is most common was 63.1 per 10,000 of population and in countries without it was significantly lower with 14.1 per 10,000 of population. Conclusions: There is evidence of assortative mating according to social responsiveness scale score which correlates significantly in spouse pairs with and without children with autistic spectrum disorder. In countries where assortative mating is predominant, a higher prevalence of autism spectrum disorder in children is found compared to countries without.
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16. Evans L, DeVilliers P, Naigles L. Autistic Individuals Are Flexible with Physical and Emotion Gradable Adjectives. Behav Sci (Basel). 2026; 16(2).
Gradable adjectives (long, happy) differ from absolute adjectives (spotted) in that they are dependent on context and speaker/listener perspective for their interpretation. Such context sensitivity may present challenges for individuals with autism spectrum disorder (ASD); however, this has never been investigated for these linguistic elements. In the current study, we asked adolescents with ASD or typical development (TD), who were part of a larger longitudinal study in which autistic characteristics, nonverbal cognition (NVIQ), and standardized language were also assessed, to sort pictures whose properties were either gradable or absolute. Adolescents sorted pictures on two occasions. In the second sorting, we manipulated the context by adding images representing one end of the scale to induce a shift in interpretation. Contrary to prediction, both groups demonstrated sensitivity to the context-specific properties by shifting their cutoffs of what counted as ‘long’ or ‘happy’ when the array was changed. Whereas NVIQ correlated positively with physical property shifts for the TD group, language measures correlated negatively with emotion property shifts for the ASD group. Autistic characteristics were not related to shift patterns in either group. Adolescents with autism are clearly able to take context into account when interpreting gradable adjectives; however, those with better language seem more focused on maintaining their cutoffs more than shifting them.
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17. Gevezova M, Maes M, Pacheva I, Mehterov N, Ivanov Z, Timova E, Spassieva S, Bieberich E, Kazakova M, Ivanov I, Sarafian V. Association of Clinical Severity in Autism Spectrum Disorder with Biomolecules Involved in Lipid Metabolism, Inflammation and miRNAs. Biomolecules. 2026; 16(2).
Autism spectrum disorder (ASD) is a heterogeneous neurological condition with an unclear etiology and pathogenesis. In recent years, studies have identified changes in lipid metabolism, inflammation, mitochondrial dysfunction, and mitophagy in patients with ASD. However, the specific interactions between these molecular signatures and their clinical applications in ASD remain largely unexplored. The aim of our study is to search for correlations between changes in gene and miRNA expression and the clinical characteristics of ASD. The investigation included a cohort of children with idiopathic ASD and healthy controls (HC). Diagnosis was established based on ADOS assessment (autism diagnostic observation schedule). Gene expression levels of sphingomyelin phosphodiesterases (SMPD1 and 5), ceramide synthases (CerS1 and 6), cyclooxygenase-2 (COX2), chitinase-3-like protein 1 (YKL40), and lysosome-associated membrane proteins 1 and 2 (LAMP1 and 2) were assessed using qPCR. The TaqMan assay was used for the quantification of miR-143-3p and miR-181a-5p. Our findings provide novel data on altered expression profiles of molecules related to lipid metabolism and LAMP1/2 in patients with ASD. We observed increased mRNA levels of CerS1, SMPD5, COX2, YKL40, LAMP1, and LAMP2 and decreased expression of miRNA-181a-5p in ASD patients compared to HC. Additionally, we identified a correlation between CerS1, CerS6, COX2, and miRNA-143-5p with ADOS scores. Multiple regression analysis revealed that 48.0% of the variance in the total ADOS score was explained by the combined effects of COX2, miRNA-143-3p, CerS1, CerS6 and age. These results provide new insights into the molecular alterations associated with ASD and may reinforce future studies aimed at clarifying their functional relevance.
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18. Hawkins V, Rudiger SR, McLaughlan CJ, Kelly JM, Lehnert K, Jacobsen JC, Handley RR, Henare K, Verma PJ, Snell RG. Foundations of an Ovine Model of Fragile X Syndrome. Genes (Basel). 2026; 17(2).
BACKGROUND: Fragile X Syndrome (FXS) is an X-linked neurodevelopmental disorder characterised by intellectual disability, developmental delays, anxiety, and social and behavioural challenges. Currently, no effective treatments exist to address the root cause of FXS. Mouse models are the most widely used for studying molecular pathogenesis and conducting preclinical treatment testing. However, therapeutic interventions that show promise in rodent models have yet to succeed in clinical trials. After evaluating the current models, we have developed an ovine model to address this clinical translation gap. We expect this model to more accurately reflect the human condition in brain size, structure, and neurodevelopmental trajectory. We aim to establish this model as a valuable preclinical platform for testing therapies for FXS. METHODS: To generate the sheep model, we used CRISPR-Cas9 dual-guide editing to knock out the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene in ovine embryos. RESULTS: Two founder animals were created, one ram (male) and one ewe (female), both of which carried FMR1 gene knockouts. The ewe carries inactivating mutations on both alleles, with the edits in both animals resulting in no detectable Fragile X Messenger Ribonucleoprotein (FMRP) as expected. Both founders have undergone molecular characterisation and basic health checks, with the female founder showing increased joint flexibility, a characteristic of FXS. The ram has been used for breeding, with the successful transmission of the edited allele to his offspring. Importantly, specific lamb cohorts for postnatal treatment testing can be produced efficiently utilising accelerated breeding methods and preimplantation selection.
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19. Hurley DP, Pavlov AC, Pattishall AE, Burger RK, Call NA, Morris CR. Medically Unnecessary Venipuncture in Autism Spectrum Disorder Behavior Assessments. Pediatr Emerg Care. 2026.
OBJECTIVE: Assess the clinical value of routine laboratory testing in the emergency department (ED) during behavioral disturbance evaluations in children with autism spectrum disorder (ASD). METHODS: A retrospective chart review of patients ages 3 to 21 years with ASD presenting to 3 pediatric EDs with behavioral disturbance from January 2019 to January 2020. Local laboratory standards were used to determine abnormal ranges in ED screening labs. Patients with abnormal findings were reviewed for medical significance, defined as the need for a medical intervention, inpatient observation, or the inclusion of a nonbehavioral diagnostic code due to an abnormal laboratory test result. RESULTS: A total of 209 eligible ED encounters were reviewed. Mean age was 14.5±3.1 years, and 84% were male. Of those, 84% (176/209) received venipuncture for screening labs per protocol, of which 97% (170/176) featured abnormal test results. Only 2 abnormal labs (1%) revealed clinically significant findings. Compared with whites, more patients of non-White race received venipuncture (90% vs. 73%, P=0.001) but less were admitted to psychiatric facilities (62% vs. 44%, P=0.01). CONCLUSION: This study demonstrates that routine screening labs in asymptomatic children with ASD presenting to the ED with behavioral disturbances are often outside the range of normal, but without clinical relevance. This practice may lead to unnecessary and painful venipuncture. Children with ASD are a uniquely vulnerable population for whom we should choose wisely.
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20. Katiraei P, Frye RE, Theoharides TC. Gut-Brain Inflammation and Disrupted Homeostasis Due to Activation of Mast Cells and Microglia. Int J Mol Sci. 2026; 27(4).
Recent data from the Centers for Disease Control (CDC) indicate that the incidence of Autism Spectrum Disorder (ASD), a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors, has increased to 1 in 31 children. Individuals with ASD have a constellation of neurological, behavioral, sensory, feeding, gastrointestinal, and immunological issues. Even though there is some genetic component to the pathogenesis of ASD, accumulation of environmental and pathogenic toxins could contribute to disruption of the gut-blood-barrier (GBB) and blood-brain barrier (BBB) via activation of mast cells (MCs) and microglia, resulting in a chronic cycle of gut-brain inflammation. Here we discuss how various environmental, pathogenic, and stress factors can disrupt gut-brain homeostasis to create susceptibility and epigenetic effects that contribute to the development of ASD. We also suggest simple ways to address some of the key pathogenetic processes involved in ASD.
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21. Kayhan G, Ozaslan A, Işeri E, Guney E, Kazan HH, Buyuktaskin D, Mulayim MF, Ergun MA, Percin FE. Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye. Genes (Basel). 2026; 17(2).
BACKGROUND: Autism spectrum disorders (ASDs) are defined as a large spectrum of phenotypes whose basic definition is deficiency in social interactions, particularly during pediatric stages. Through clinical evaluations, it would be challenging to diagnose since the symptoms may be disregarded or controversial. Hence, molecular approaches could be powerful for differential and certain diagnosis. Moreover, considering the possible genetic complexity of the disease, the rates of molecular diagnosis remain insufficient. Nevertheless, the number of newly identified ASD-monogenic inheritance relationships is escalating daily. This underscores the increasing importance of comprehensive molecular tests, such as whole exome sequencing (WES), which encompass all relevant genes. Furthermore, reporting population-specific variants is critical to validate already listed ones and decipher novel ones. In the present study, we aimed to document the disease-related variants in Turkish patients with ASD. METHODS: This study evaluated the WES outcomes of 75 ASD patients with normal results in Fragile X testing, cytogenetic analysis, and molecular karyotyping. All patients were diagnosed with ASD based on the criteria from the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5). RESULTS: The average age of the participants was 8.2 (±5.0) years. A higher percentage of the participants was male (73.3%) compared with female (26.7%). Eighteen patients (24%) had pathogenic or likely pathogenic (LP) variants, while 34 (45.3%) exhibited variants of unknown significance (VUS). In 30.7% of the cases, no clinically relevant variants were found. The MECP2 gene was most frequently affected, followed by EP300 and PTEN. Additionally, four patients carried novel de novo missense variants in the KMT2C, MECP2, PTEN, and TRRAP genes. CONCLUSIONS: Genetic diagnosis of ASD would be useful for confirming the underlying etiologies, devising personalized therapeutic strategies, and offering family counseling. Although WES has been employed in ASD patients for an extended period, the identification of gene and variant spectra across diverse cohorts and the discovery of novel variants continues to hold significant scientific importance.
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22. Kerkez M, Şanli ME. The effect of the micro-appreciation training-based ‘three things diary’ intervention for mothers of children with autism spectrum disorder on care burden, family functioning, and happiness levels: An experimental study. J Pediatr Nurs. 2026; 88: 148-61.
OBJECTIVE: This study aims to investigate the effects of the micro-appreciation training-based ‘Three Things Diary’ (MT-TTD) intervention for mothers of children diagnosed with Autism Spectrum Disorder (ASD) on care burden, family functioning and happiness levels. METHOD: This unblinded randomized controlled trial involved 70 mothers of children with autism spectrum disorder. The intervention group completed an eight-week micro-appreciation-based « Three Things Diary » program. Data were collected face-to-face using the Caregiver Burden Scale, Oxford Happiness Questionnaire-Short Form, and Family Functioning Scale. Analyses included t-tests, Mann-Whitney U, Wilcoxon, chi-square, and covariance tests. FINDINGS: The mean age of the participating mothers was 37.9 ± 6.2 years, while the mean age of the children was 9.0 ± 3.4 years, and 71.4% of the participants were male. Prior to the intervention, the experimental group showed lower family functioning and subjective well-being (p < 0.05), but lower caregiving burden than the control group (p < 0.05). After the intervention, caregiving burden significantly decreased (t = -10.185, p < 0.001, d = -1.569), and family functioning improved (Z = -5.803, p < 0.001, r = 1.923). Although happiness did not differ significantly (t = 1.720, p = 0.091, d = 0.703), the intervention showed a moderate effect. The effect sizes obtained revealed that the intervention has moderate to high clinical significance. CONCLUSION: The MT-TTD intervention stands out as an effective psychosocial intervention for mothers of children with ASD, demonstrating efficacy in reducing caregiving burden, improving family functioning, and enhancing happiness. IMPLICATIONS FOR NURSING PRACTICE: The findings indicate that family-centered and positive psychology-based approaches have an important place in nursing care, and that innovative interventions aimed at empowering mothers should be supported. Clinical Trials Registration ID:NCT07124091.
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23. Ko A, Kline A, Dunlap K, Surabhi S, Azizian P, Washington PY, Wall DP. Abstention and Threshold Identification for Uncertainty Management in Clinical Decision Tools: A Case Study using Human-In-The-Loop Pediatric Autism Classifiers. Pac Symp Biocomput. 2026; 31: 114-29.
Uncertainty quantification remains an underdeveloped aspect of AI-based clinical decision tools. As AI systems become increasingly prevalent in healthcare, it is essential not only to measure uncertainty but also to manage it in ways that support clinical decision-making. In this study, we investigate abstention as a practical mechanism for managing uncertainty in diagnostic classifiers. To stress-test this approach, we deliberately evaluate abstention performance on a purposefully noisy dataset of pediatric autism video assessments comprising heterogeneous video sources and a diverse range of human raters. We apply abstention strategies to existing autism classifiers trained on diagnostic assessment data, comparing baseline performance to a range of thresholding configurations that trade off retained sample coverage against key clinical metrics. We compare performance gains from prioritizing sensitivity or specificity to targeting a balanced increase in Youden’s J to demonstrate a wide variety of use cases that abstention can enable. This work demonstrates a concrete use case of introducing abstention into the output range of clinical decision models, enabling both uncertainty quantification and management in diagnostic classifiers.
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24. La Monica I, Di Iorio MR, Sica A, Pastore L, Lombardo B. Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort. Genes (Basel). 2026; 17(2).
Background: Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterized by cognitive, behavioral, and developmental impairments, frequently linked to structural genomic alterations. Copy number variants (CNVs) involving chromosome 16, particularly the short arm 16p, are recognized contributors to neurodevelopmental variability. Despite increasing international evidence, data from Italian clinical cohorts are still limited. Methods: We investigated 1200 patients referred for genetic evaluation due to suspected NDDs, including autism spectrum disorder (ASD), intellectual disability (ID), global developmental delay, and language impairment. All individuals underwent array comparative genomic hybridization (a-CGH) analysis, and identified variants were correlated with detailed clinical, cognitive, and behavioral assessments. The analysis focused on recurrent CNVs at 16p11.2, 16p13.3, and 16p13.11, regions containing dosage-sensitive genes relevant to neurodevelopment. Results: CNVs involving the 16p region were identified in 96 patients (8% of the cohort), encompassing both deletions and duplications. Deletions were mainly associated with developmental delay, language deficits, and ASD-related features, whereas duplications were more frequently linked to behavioral dysregulation, attentional deficits, and variable cognitive impairment. Marked phenotypic variability was observed among individuals carrying similar CNVs, suggesting the contribution of modifying genetic or environmental factors. In a subset of patients, additional CNVs were identified, potentially exacerbating clinical severity, consistent with the two-hit model. Conclusions: This study confirms a strong association between recurrent 16p CNVs and a wide spectrum of neurodevelopmental phenotypes in an Italian clinical cohort. The findings emphasize the diagnostic utility of systematic genomic screening and the importance of an integrated genotype-phenotype approach to improve clinical interpretation, management, and genetic counseling in NDDs.
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25. Lamanna J, Meldolesi J. Correction: Lamanna, J.; Meldolesi, J. Autism Spectrum Disorder: Brain Areas Involved, Neurobiological Mechanisms, Diagnoses and Therapies. Int. J. Mol. Sci. 2024, 25, 2423. Int J Mol Sci. 2026; 27(5).
There was an error in the original publication […].
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26. Lau RDS, de Souza JS, da Conceição RR, Giannocco G, Silva-Almeida C, Marinho BG, Rocha FFD, Ahmed RG, Côrtes WDS, Laureano-Melo R. Paternal anabolic-androgenic steroid exposure promotes autism-like behavior in adult mouse offspring of both sexes. Horm Behav. 2026; 180: 105901.
Paternal environmental factors before conception and during sperm development may influence the offspring’s health later in life. This study aimed to investigate whether paternal exposure to anabolic-androgenic steroids (AAS) before conception predisposes mouse offspring to autism spectrum disorder (ASD)-like behavior. For this purpose, male Swiss mice were randomly divided into two groups: the control group received peanut oil, while the treated group was administered testosterone propionate (7.5 mg/kg, s.c.) twice a week for five weeks. After this period, these males were mated, and their offspring underwent a behavioral test battery at 70 days of age, including the open field test, object recognition task, three-chamber social approach test, and light-dark box test. At the end of the experiment, the hippocampus was dissected for RNA analysis. Our results indicate that paternal AAS treatment induces long-lasting behavioral alterations in both female and male offspring, including increased anxiety-like behavior, impaired memory, and deficits in social interaction. Additionally, a strong effect of paternal AAS treatment during preconception period was verified in Gad1, Gabra2 and Bdnf expression. These findings suggest that paternal AAS exposure may program neurodevelopmental vulnerabilities in offspring, contributing to ASD-like phenotypes.
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27. Lee J, Datta B, Benevides T. Insufficient sleep among parents of children with intellectual and/or developmental disabilities: Findings from the 2011-2018 National Health Interview Survey. Res Dev Disabil. 2026; 170: 105258.
BACKGROUND: Parents of children with intellectual and/or developmental disabilities (IDD) face greater health risks, yet insufficient sleep among this group has been understudied. Prior research has relied on small, condition-specific samples. This study examined the prevalence of insufficient sleep among parents of children with and without IDD in a nationally representative sample. METHODS: We analyzed 2011-2018 National Health Interview Survey data, including parents of children with IDD (n = 3378) and without IDD (n = 54,645). Multivariable logistic regression estimated adjusted odds ratios (AOR) of insufficient sleep (<6 h vs. ≥6 h), controlling for child and parent-level sociodemographic characteristics. RESULTS: 40.54 % of parents of children with IDD reported insufficient sleep compared to that of 34.50 % in parents of children without IDD (AOR = 1.20, 95 %CI:1.09-1.33). Parents of children with IDD reporting high income or a college degree were not significantly associated with insufficient sleep. CONCLUSIONS: Parents of children with IDD are more likely to experience insufficient sleep than parents of children without IDD, though this association may be weaker among higher-income and college-educated parents. Targeted efforts to improve sleep health among low-income and low-education families may help prevent adverse health outcomes in this population. WHAT THIS PAPER ADDS: This study offers the first nationally representative estimates of insufficient sleep among parents of children with intellectual and/or developmental disabilities (IDD). Findings show that these parents are significantly more likely to experience insufficient sleep compared to parents of children without IDD. Importantly, the association was prominent in adults with lower income and lower educational attainment. These results underscore the need for targeted sleep health interventions to support families of children with IDD, particularly those with fewer socioeconomic resources.
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28. Li T, Decety J, Hua Z, Peng X, Shi R, Yi L. The role of empathy in prosocial behavior in autistic and neurotypical children. Child Dev. 2026.
This study examined the role of empathy in prosocial behavior among Chinese autistic and neurotypical children aged 4-8 between July 2018 and August 2021. Study 1 included 79 autistic children (89% boys) and 81 neurotypical children (77% boys) in a sharing task and found empathy-inducing context increased sharing in both groups, and informant-report empathy positively predicted sharing behavior. Study 2 recruited 57 autistic (82% boys) and 50 neurotypical children (78% boys) in a pain-related empathy task combining eye-tracking and a sharing task. Autistic children showed reduced visual attention to others’ pain but intact emotional arousal. Across both groups, greater visual attention to others’ pain predicted more sharing. These findings indicate that enhancing empathy can promote prosocial behavior in young children. This study investigated the role of empathy in promoting prosocial behavior in young autistic and neurotypical children. In Study 1, an empathy-inducing context significantly increased sharing behavior in both groups, and informant-report trait empathy positively predicted sharing. In Study 2, while autistic children displayed reduced visual attention to others’ pain, their emotional arousal was comparable to that of neurotypical peers. Notably, increased visual attention to others’ pain predicted increased sharing decisions. Together, these findings highlight empathy’s fundamental role in motivating prosocial behavior in both autistic and neurotypical children. eng.
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29. Liu W, Lu Y, Ng SC, Chan FK, Sung JJ, Yu J. Bacterial genomic structural variations in children with autism serve as diagnostic biomarkers. Gut. 2026.
BACKGROUND: Gut microbiota dysbiosis is linked to autism spectrum disorder (ASD) in children. However, the role of bacterial genomic structural variations (SVs) in ASD remains largely unexplored. OBJECTIVE: We aimed to identify bacterial SVs associated with ASD and explore their mechanistic role and clinical application. DESIGN: We collected faecal metagenomes from 452 children (261 ASD, 191 neurotypical) across an in-house and seven public datasets. Using linear mixed-effects modelling, we identified ASD-associated SVs and compositional shifts and validated candidate SVs in humanised gut microbiome mice. RESULTS: We identified 100 bacterial SVs significantly associated with ASD (p<0.05). These SVs were enriched in genes involved in critical biological processes, including ion and amino acid metabolism and bacterial growth regulation in ASD. In particular, we found important SVs in Bacteroides uniformis related to thiamine and iron metabolism. Moreover, SVs in Ruminococcus torques were associated with the MazF (endoribonuclease toxin) and MazE (antitoxin) system, a key regulator of pathobiont proliferation. Validation in humanised mouse models confirmed significant correlations between these SV signatures and ASD-like behaviours, such as reduced social interaction and increased repetitive behaviours. Both phylogeographically conserved and regionally restricted SVs showed strong associations with ASD. A diagnostic model combining nine SVs and three bacterial species achieved an area under the receiver operating characteristic curve of 81.1%, outperforming models based solely on variable SVs (79.1%), deletion SVs (75.2%) or bacterial species abundance alone (72.3%). CONCLUSION: Our findings suggest the significant role of bacterial genomic SVs in ASD and highlight their potential as diagnostic biomarkers.
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30. Lodi MK, Flax JF, Gwin C, Wilson S, Robinson A, Buyske S, Brzustowicz LM, Xing J, Bartlett CW. Narrow Versus Broad Phenotype Definitions Affect Genetic Analysis of Language More than Other Broad Autism Phenotype Traits. Genes (Basel). 2026; 17(2).
BACKGROUND/OBJECTIVES: Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition that displays heterogeneity in both presentation and etiology, and often presents with concomitant communication difficulties. The hypothesis behind the New Jersey Language and Autism Genetic Study is that genetic heterogeneity for component phenotypes of ASD may be reduced relative to the disorder as a whole. We previously published an initial phase of this study with family recruitment that used very restricted inclusion/exclusion criteria for both autism and language deficits. Here, we present an expanded sample that includes a wider range of phenotypic presentations in the autism and language domains. METHODS: Bioinformatics tools focusing on variant prioritization were used to identify candidate risk genes. RESULTS: Our previous findings on 15q and 16q, connecting ASD and oral/written communication, are only relevant to the narrow ASD and language impairment phenotypes, though addition of families did reduce both critical regions. After variant and gene prioritization, we determined a set of ten and six top candidate risk genes with a strong association with language impairment and reading impairment, respectively. The top candidate genes include both genes previously implicated in neurodevelopmental disorders (e.g., ZNF774 and DNAH3) and genes not previously reported but with strong evidence of being involved in neurodevelopmental phenotypes. CONCLUSIONS: Our analysis elucidates the genetic architecture and interaction of ASD and language-related phenotypes. In addition, we reported a number of high-confidence candidate genes within the top linkage regions. These genes will provide insights into the genetic etiology of neurodevelopmental disorders.
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31. Lu W, Wong OWH, Zhu J, Chen S, Tun HM, Wan Y, Xu Z, Cheung CP, Ching JYL, Cheong PK, Chan S, Wong S, Chan D, Chan FKL, Su Q, Ng SC. Gut microbiome composition and strain-sharing in multiplex autism spectrum disorder families. Nat Commun. 2026.
Autism spectrum disorder (ASD) is associated with alteration of gut microbiome, but the influence of familial structure on it remains poorly understood. We investigate gut microbiota across 429 children from multiplex families with multiple affected children, simplex families with one affected child, and single-child ASD families, alongside typically developing controls. We found that children from multiplex families exhibit the most distinct microbiome compositions. Cohabiting siblings in ASD families display higher microbiome similarity than those in healthy families, with a clear gradient in strain-sharing rates that is highest in multiplex, intermediate in simplex, and lowest in healthy siblings. This increased sharing involves specific taxa with reported opportunistic pathogenic potential, such as Eubacterium rectale, alongside reduced sharing of the commensal bacterium Bacteroides xylanisolvens. This suggests that their gut microbiome configurations, which are potentially influenced by shared environmental and host factors, are associated with increased persistence or detectability of specific bacterial strains. Our results underscore the significant contribution of family type to microbial heterogeneity in ASD and provide a hypothesis-generating context for future studies to explore the role of the shared microbial environment in a familial context.
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32. M TL, Gosme C, Leitgel-Gille M, Simas R, Jeudon X, Golse B, Ouss L. Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome. Int J Lang Commun Disord. 2026; 61(2): e70215.
BACKGROUND: Maternal child-directed speech (MCDS) plays a critical role in early language and communicative development, yet little is known about how it adapts to neurodevelopmental conditions such as Infantile Spasms/West Syndrome (WS), particularly when co-occurring with intellectual disability (WID) or autism spectrum disorder (WASD). AIMS: This study investigated how mothers adapt their speech when interacting with children with WS, including those with WID and WASD, compared to age-matched typically developing (TD) children. METHODS AND PROCEDURES: Forty-four mother-child dyads participated in standardized free play sessions. MCDS was transcribed and analysed using the Child Language Data Exchange System (CHILDES), focusing on lexical diversity, noun, verb, adjective and pragmatic features (e.g., exclamations, directiveness, questions, attention-directing expressions, mental state references). OUTCOMES AND RESULTS: Lexical diversity did not differ significantly between groups. However, clear group differences were found in pragmatic use: mothers of children with WS produced more exclamations, attention-directing expressions, and mental state references, suggesting adaptive strategies to sustain engagement. In the WS and TD groups, MCDS features were significantly associated with children’s developmental quotients (DQ), a pattern not observed in the WID or WASD subgroups. CONCLUSIONS AND IMPLICATIONS: Findings suggest that mothers flexibly adjust their communicative input to children’s developmental and interactional needs, with unique adaptations evident in WS. These results underscore the importance of tailoring parent-mediated interventions to support communication in children with complex neurodevelopmental contexts. WHAT THIS PAPER ADDS: What is already known on this subject Maternal child-directed speech (MCDS) varies across neurodevelopmental conditions. Prior research has documented this variability in children with language delay and developmental language disorder (DLD), including those with co-occurring autism spectrum disorder (ASD). What this paper adds to the existing knowledge To date, no studies have examined MCDS in the context of early-onset epilepsy during infancy, such as Infantile Spasms or West Syndrome (WS), leaving a critical gap in the literature. This study demonstrates that MCDS is shaped by (i) the neurological impact of WS, including alterations in social responsiveness that may occur independently of intellectual disability or ASD; (ii) the child’s developmental abilities; and (iii) communicative features associated with ASD. These findings broaden our understanding of how maternal speech adapts to diverse, early-emerging neurodevelopmental disorders. What are the potential or actual clinical implications of this work? This study highlights the complexity of mother-child communication in the context of WS and co-occurring conditions. The findings underscores the need for tailored clinical interventions that consider both caregiver input and the child’s communicative and developmental profile. MCDS may potentially serve both as a sensitive indicator of developmental status and as a modifiable element of early intervention. Personalized approaches that build on the child’s communicative strengths while addressing specific challenges may support improved language outcomes and broader cognitive development.
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33. Mendoza ADG, Nuncio-Mora L, Sánchez V, Gonzalez V, Nicolini H. Dysbiosis in the Family nucleus of Children Diagnosed With Autism Spectrumin Mexico City. Actas Esp Psiquiatr. 2026; 54(1): 121-7.
BACKGROUND: The relationship between the gut microbiome and Autism Spectrum Disorder (ASD) has been the subject of growing interest in scientific research. Research into the relationship between the gut microbiome and ASD has gained relevance in recent years as recent studies have identified significant differences in the gut microbiome abundance and composition in ASD children compared to neurotypical ones. However, little is known about the microbiome interplay, changes and relationship in parents and children with ASD, considering that they share a consistent environment. Charactering the microbiota of trio-type families with a child diagnosed with autism. METHODS: The hypervariable region of the 16s ribosomal gene was sequenced from stool samples from adolescents with ASD and their parents. The analysis was performed using various software programs, including QIIME2 and DADA2. RESULTS: In this paper, we discuss this relationship in three families, and observed that the gut microbiome of the offspring with ASD is more similar to the mother’s than the father’s microbiome. CONCLUSIONS: These observations could lead to the understanding of the potential heritability of the disorder through parental connectedness of the gut microbiome and eventually to the development of interventions aimed at modulating the gut microbiota to improve symptoms associated with ASD.
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34. O’Nions E, Brown J, Buckman JE, Charlton R, Cooper C, El Baou C, Happé F, Hoare S, Lewer D, Long C, Manthorpe J, McKechnie DG, Richards M, Saunders R, Mandy W, Stott J. Personality disorder diagnoses in UK Autistic people: Evidence from a matched cohort study. Autism. 2026: 13623613251414911.
Clinical accounts and cohort studies suggest that Autistic people are disproportionately likely to be diagnosed with personality disorder. We conducted a cohort study of adults diagnosed Autistic drawn from the IQVIA Medical Research Database, with follow-up from 1 January 2000 to 16 January 2019. We included a comparison group without diagnosed autism, matched (1:10) by age, sex and primary care practice. We included 22,112 Autistic adults, of whom 6437 (29.1%) had a diagnosis of intellectual disability. Median age was 20.36 (interquartile range: 18.0-28.5), and 16,881 (76.3%) were men. The rate of new personality disorder diagnosis in Autistic people without intellectual disability was 4.8 (3.5-6.7) times higher for Autistic versus comparison men, and 4.6 (3.1-6.8) times higher for Autistic versus comparison women. For Autistic participants with intellectual disability, the rate was 2.0 (1.0-3.7) times higher for Autistic versus comparison men and 8.3 (4.0-17.2) times higher for Autistic versus comparison women. The estimated rate of new personality disorder diagnosis for Autistic people aged 20 increased from 14.67 (95% confidence interval: 10.4-20.8) per 10,000 person-years in 2009 to 22.43 (95% confidence interval: 13.9-36.3) in 2019. The findings indicate that personality disorder diagnoses are more common in Autistic people and increased overall in women from 2000 to 2019.Lay abstractSeveral research studies have suggested that Autistic people are more likely to be diagnosed with personality disorder than people who are not Autistic. We compared rates of personality disorder diagnoses between Autistic people and a comparison group of people not diagnosed Autistic using anonymised data collected by UK primary care practitioners for participants registered at a primary care (general practitioner) practice sometime between 1 January 2000 to 16 January 2019. The comparison group of people in the community who did not have an autism diagnosis were of the same age, sex and registered at the same primary care practice as their matched Autistic participant, with 10 times as many matched participants as Autistic participants. We included 22,112 Autistic adults, of whom 6437 (29.1%) had a diagnosis of intellectual disability. Median age was 20.36 years, and most, 16,881 (76.3%), were men. We included 221,120 comparison adults. New personality disorder diagnoses were more than four times as common for Autistic men and women without an intellectual disability compared to men and women in the comparison group. For Autistic participants with an intellectual disability, the rate was twice as high for Autistic versus comparison men and 8 times higher for Autistic versus comparison women. Between 2000 and 2019, there was an increase in the rate of new personality disorder diagnoses among Autistic people, and in women. The findings highlight the need for further investigation into reasons for this increase.
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35. Oprea OG, Lungu PF, Chelaru AI, Balmus IM, Strungaru-Jijie R, Plavan G, Nicoara MN, Ciobica A, Gheban D, Chiriac S. Preliminary Data Regarding the Potential of Oxytocin to Modulate Aggressive Behaviour in a VPA-Based Animal Model of Autism Spectrum Disorder. Pharmaceuticals (Basel). 2026; 19(2).
Background/Objectives: Aggressive behaviour is commonly associated with neurodevelopmental disorders, such as autism spectrum disorder (ASD), and could be understood as a response to daily stress routines, which negatively impacts patients’ quality of life. Oxytocin (OT), a neuropeptide involved in social bonding and socio-affective regulation, has emerged as a promising candidate to enrich, rather than replace, current pharmacological approaches in managing ASD-associated aggressive behaviour. In this study, we examined the potential of OT to modulate aggressive behaviour frequency in a VPA-based animal model of ASD. Methods: Sixty adult zebrafish (1:1 sex ratio) were divided into six groups (n = 10/group) and received the following treatment for 7 consecutive days: CTR-control (no treatment); VPA (28.8 mg/L valproic acid); OT (33.2 ng/mL oxytocin); RIS (170 μg/L risperidone); VPA + OT (28.8 mg/L valproic acid and 33.2 ng/mL oxytocin); and VPA + RIS (28.8 mg/L valproic acid and 170 μg/L risperidone). The locomotor performance, and socio-affective and aggressive behaviours, were measured in the Novel Tank and Mirror Biting tests at the end of the treatments. Results: We observed that the VPA treatment led to locomotion and socio-affective impairments, as well as aggressive behaviour. Also, we found that OT and RIS had comparable potential to modulate the frequency of aggressive and anxiety-like behaviours. Conclusions: Our preliminary data showed that OT has the potential to modulate the frequency of anxiety-like and aggressive behaviours, similarly to the atypical antipsychotic, RIS, in our VPA zebrafish model. However, further studies are needed to investigate the mechanisms of action and their potential synergistic effects.
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36. Ozek V, Sevincok D, Sevincok L. Autism and Schizotypal Traits in Relation to Thought-Action Fusion in Obsessive-Compulsive Disorder. Actas Esp Psiquiatr. 2026; 54(1): 128-38.
BACKGROUND: Thought-Action Fusion (TAF) is one of the cognitive variables and thought misinterpretations that have been extensively studied in Obsessive-Compulsive Disorder (OCD). However, further research is needed on the specific factors contributing to the development of TAF in patients with OCD. Since autistic traits and TAF are related to cognitive processes, we hypothesized in this study that autistic traits as well as schizotypal traits and obsessive-compulsive symptoms may be associated with TAF severity in OCD patients. METHODS: In this cross-sectional study, eighty-three patients (aged 18 to 65) with OCD were assessed using the Yale Brown Obsessive-Compulsive Scale (Y-BOCS), Schizotypal Personality Questionnaire (SPQ), Autism Spectrum Quotient (AQ), Thought-Action Fusion Scale (TAFS), Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI). RESULTS: We found that attention switching, attention to detail, and communication dimensions of the AQ were associated with higher TAF-Likelihood/Self. There was a significant association between attention shifting and TAF-Moral, while attention to detail was significantly associated with TAF Likelihood/Others. Y-BOCS-Total (β = 0.338, p = 0.001), and cognitive-perceptual traits (β = 0.295, p = 0.018) were significantly associated with TAF-Moral. Likelihood/Self dimension of TAF was significantly associated with Y-BOCS-total (β = 0.386, p < 0.001), BDI (β = -0.333, p = 0.017), AQ-Total (β = 0.250, p < 0.001) and Cognitive-Perceptual schizotypal traits (β = 0.289, p = 0.016). The severity of TAF-Likelihood/Others was significantly associated with Y-BOCS-Total (β = 0.279, p = 0.012). CONCLUSIONS: We suggest that in addition to the severity of OCD and cognitive-perceptual traits, higher autistic traits may also contribute to increased levels of TAF-Likelihood/Self.
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37. Payne E, Moffitt BA, Oberman LM, Beamer L, Srikanth S, Cascio LN, Jones K, Jain L, Pauly R, May M, Skinner C, Buchanan C, DuPont BG, Martin RR, Rogers RC, Phelan K, Sarasua SM, Kaufmann WE, Boccuto L. Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals. Genes (Basel). 2026; 17(2).
Background/Objectives: Phelan-McDermid syndrome (PMS), caused by either chromosome 22q13.3 deletions or pathogenic/likely pathogenic variants in the SHANK3 gene, is a rare neurodevelopmental disorder. Behavioral issues greatly impair the quality of life for affected individuals and their families. This genotype-phenotype study intended to further characterize key behavioral features and their genetic and metabolic correlates in PMS. Methods: We conducted a cross-sectional analysis of data on 56 individuals with PMS. Autistic and related behaviors were assessed with the Autism Diagnosis Interview-Revised (ADI-R) and adaptive behavior skills were assessed with the Vineland Adaptive Behavior Scales-Third Edition (Vineland-3), both covering multiple aspects of communication, socialization and abnormal behaviors. Genetic diagnostic information on deletions or pathogenic variants was supplemented with the sequencing data of nine candidate genes on 22q13.3. Metabolic data were obtained using the Biolog Phenotype Mammalian MicroArray plates (PM-M). Results. Every subject in the cohort presented either prominent autistic behavior or adaptive behavior impairment, 55.4% of them meeting the ASD cutoff in every ADI-R domain and 92.9% scoring in the lowest level of adaptive behavior (range of 20-70). Individuals with SHANK3 variants had lower adaptive behavioral skills than those with 22q13 deletions regardless of deletion size, while genomic parameters were largely unrelated to ADI-R scores. Metabolic profiling identified unique profiles of individuals with PMS compared with controls, while distinct profiles distinguished those who met or did not meet the ADI-R ASD cutoff. Cluster analyses revealed groups of individuals with ASD and other clinical features. Conclusion. This study highlighted the importance of SHANK3 in adaptive behavioral skills and uncovered potential metabolic biomarkers of therapeutic relevance.
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38. Perez Liz G, Wieckowski AT, Austin A, Dickerson AF, Frick E, Dubin A, de Marchena A, Robins DL. Confidence of Pediatric Primary Care Clinicians in Autism Screener Score and Their Own Diagnostic Impressions. Behav Sci (Basel). 2026; 16(2).
Autism-specific screening and developmental surveillance in primary care aid identification of autism. In this study, we assessed primary care clinicians’ (PCCs’) reported confidence in screening scores from the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) and in their own diagnostic impressions. Four PCCs provided data for 50 children aged 16-36 months for whom they had any developmental concern. PCCs’ diagnostic impressions were « Definitely Autism » for 15 children (30%), « Unsure-Needs Further Evaluation » for 25 children (50%) and « Definitely Not Autism » for 10 children (20%). They reported High Confidence on the screener score in 33 cases (66%). Of the 17 cases for whom PCCs reported having Low Confidence on the M-CHAT-R, 14 children (82.3%) had a Low Likelihood score, with no significant association between M-CHAT-R likelihood and PCC’s confidence in the screening score. PCCs’ diagnostic impressions were concordant with the M-CHAT-R autism likelihood in 42% of cases, with a significantly higher mean in confidence rating when compared to the non-concordant cases. Language development and social engagement were the most frequently endorsed concerns by PCCs, with significant associations between these concerns and M-CHAT-R likelihood. Our results suggest that, when developmental concerns exist, PCCs may place greater confidence in the M-CHAT-R when scores indicate a higher likelihood of autism, and that confidence in their own diagnostic impressions may be associated with concordance with the screener score.
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39. Pimenta LSE, Mello CB, Polanczyk GV, Kulikowski LD, Melaragno MI, Kim CA. Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant. Genes (Basel). 2026; 17(2).
22q11.2 deletion syndrome (22q11.2DS) is the most common recurrent microdeletion in humans and a prototypical high-risk neurogenetic copy number variant (CNV) associated with a broad spectrum of neurodevelopmental and psychiatric disorders, including intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), anxiety, and psychotic symptoms. This hemizygous deletion encompasses multiple genes involved in brain development and neural circuit function, contributing to marked phenotypic variability and multisystem involvement. In pediatric populations, deficits in adaptive functioning are frequently reported and may occur independently of global intellectual impairment, reflecting broader behavioral vulnerabilities within this genetic risk architecture. Background/Objectives: This study aimed to characterize the sociodemographic, clinical, and intellectual profiles of children and adolescents with 22q11.2DS and to examine adaptive functioning and its associations with behavioral difficulties. Methods: Thirty-four patients aged 1-17 years with a confirmed molecular diagnosis of 22q11.2DS were assessed. Standardized instruments were used to evaluate cognitive performance, adaptive functioning, and behavioral outcomes. Results: Intellectual disability was highly prevalent, with most participants showing combined cognitive and adaptive impairments. Adaptive functioning was compromised across domains, with relatively higher socialization scores compared to other areas, such as daily living skills. Multivariate analyses indicated associations between sociodemographic factors and behavioral difficulties, as well as between social problems and lower global adaptive functioning. Conclusions: Together, these findings contribute to the characterization of the adaptive and behavioral phenotype associated with a high-risk neurogenetic CNV and highlight the relevance of adaptive functioning as a key outcome for early evaluation and intervention in pediatric 22q11.2DS.
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40. Sakata M, Ostinelli EG, Yamamoto R, Oi H, Kikuchi S, Toyomoto R, Nakajima S, Ohashi K, Nogimura A, Yamada R, McLay L, Furukawa TA, Nagai Y, Yamada A. Comparative efficacy and acceptability of sleep interventions for children and adolescents with autism spectrum disorders: a protocol for a systematic review and network meta-analysis. Syst Rev. 2026.
BACKGROUND: Children and adolescents with autism spectrum disorder (ASD) frequently experience sleep problems. Although various pharmacological, behavioral, and physical interventions have demonstrated efficacy in improving sleep among children with ASD, the relative effectiveness of these interventions remains unclear. METHODS: We will conduct a systematic literature search to identify randomized controlled trials that evaluate the efficacy of pharmacological (e.g., melatonin), psychological (e.g., cognitive behavioral therapy), and physical (e.g., bright light therapy) interventions for sleep problems in children with ASD. We will search PubMed, PsycINFO, Cochrane CENTRAL, major trial registries, and regulatory agency websites. We will assess the Cochrane Risk of Bias 2.0 (RoB 2.0) tool for primary outcome and the Risk Of Bias due to Missing Evidence in Network meta-analysis (ROB-MEN) tool for the bias due to missing network evidence. A network meta-analysis (NMA) will be performed to compare the included interventions. The primary outcome will be sleep onset latency, while secondary outcomes will include other sleep variables, all-cause dropouts, and sleep disturbances assessed using standardized measures. We will assess confidence in NMA(CINeMA). DISCUSSION: Our NMA aims to provide evidence-based insights into the effectiveness of sleep interventions for clinicians, children with ASD, and their caregivers. This information will help guide treatment decisions and improve the quality of life for children with ASD and their families. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42024592795.
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41. Sam J, Ahmad F, Khalaf T, Sathies A, Dada S. A PhotoVoice Study with Canadian Immigrant and Racialized Family Caregivers of Children on the Autism Spectrum. Int J Environ Res Public Health. 2026; 23(2).
BACKGROUND: Immigrant and racialized families raising children on the autism spectrum in Canada navigate intersecting inequities shaped by racism, language barriers, immigration status, and fragmented health and education systems. Yet their perspectives remain underrepresented in autism and health policy research. METHODS: Guided by the socioecological and critical social science lens, this community-based participatory study employed a PhotoVoice approach in partnership with SMILE Canada-Support Services. Ten immigrant and/or racialized family caregivers from the Greater Toronto area participated in four in-person sessions involving ethical training, guided photo-taking, group-based reflections, and collaborative theme refinement. The data included 38 participant-generated photographs, narratives, and an audio-recorded final group discussion. RESULTS: Seven interrelated themes were identified: (1) family support and child needs; (2) physical and emotional burden on caregivers; (3) school support or its missingness; (4) stigma and discrimination; (5) overall journey with barriers; (6) transitions and uncertainty; and (7) two sides of a coin: isolation and strength, loneliness and hope. Caregivers highlighted extensive invisible labor, exclusionary schooling, financial and systemic barriers, and cumulative stress. Simultaneously, they articulated resilience, mutual support, and a strong sense of collective responsibility. The PhotoVoice process itself was experienced as validating, unifying, and empowering, with participants expressing readiness to disseminate findings through exhibitions, school boards, universities, and policy-engagement initiatives. CONCLUSIONS: Caregiving among immigrant and racialized families is both a profound act of love and a site of structural injustice. Centering on caregivers as co-researchers and knowledge holders reveals urgent needs for equity-oriented autism policies and culturally responsive, accessible support systems in Canada.
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42. San José Cáceres A, Burdeus Olavarrieta M, Vicente C, Monleón N, Sipos L, Serrano L, Martín L, Vela E, Parellada M. Humanizing medical care for individuals with autism spectrum disorder and their families: the experience of healthcare support in the Comprehensive Medical Care Unit for individuals with ASD (AMITEA). Front Psychol. 2026; 17: 1716298.
INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition frequently associated with comorbidities and high support needs, posing significant challenges for the provision of patient-centered and humanized healthcare. Specialized healthcare programs have been developed to address these needs, yet evidence on user experiences within such models remains limited. METHODS: This qualitative study explored the experiences of patients with ASD, caregivers, and healthcare professionals involved in AMITEA, a specialized public healthcare program in Madrid, Spain. Three focus groups (n = 24) were conducted following the Picker model of patient-centered care. Data were analyzed using a hermeneutic phenomenological approach, in accordance with COREQ guidelines. RESULTS: Participants reported several strengths of the AMITEA program, including respectful and personalized care, effective communication, emotional support, coordination across hospital services, and environmental adaptations tailored to sensory needs. Identified limitations included insufficient coordination beyond the specialized unit, limited resources, challenges during the transition to adulthood, barriers in referral processes, and a lack of ASD-specific training among professionals outside the program. DISCUSSION: The findings highlight the value of specialized, patient-centered approaches for individuals with ASD, emphasizing the importance of personalized support, adapted environments, and professional training. Extending these practices beyond specialized units may contribute to improved equity, continuity, and humanization of care across healthcare systems.
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43. Sara Daniella K, Elmaghraby R, Patel F, Brown H, Gorenstein M, Bain J, Grinspan ZM, Pedapati E, Veenstra-VanderWeele J, Vandana P. Novel therapeutics in autism spectrum disorder. Neurotherapeutics. 2026; 23(1): e00857.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with limited treatment options that address its full complexity. This review critically evaluates novel therapeutics across five key domains: behavioral and psychosocial interventions, psychopharmacology, digital and AI-driven tools, neuromodulation, and genetic therapies. The broad heterogeneity of ASD complicates clinical research, often obscuring treatment effects and limiting generalizability. Challenges across domains include identifying reliable biomarkers, defining meaningful outcomes, and ensuring equitable access to evidence-based care and research participation. Behavioral and psychosocial therapies, considered first line interventions, are shifting toward naturalistic, developmentally informed, and neurodiversity-affirming models that reflect individual needs across the spectrum and across the lifespan. There continues to be no medications that are currently FDA approved for core autism symptoms, though ongoing pharmacologic research increasingly emphasizes biologically informed, stratified approaches to develop biomarkers that identify subsets of individuals who may benefit from a specific treatment. Digital and AI-driven tools promise greater personalization and expanded access but require safeguards, validation, and attention to equity. Neuromodulation techniques, including Transcranial Magnetic Stimulation (TMS) and Transcranial Direct Current Stimulation (tDCS), remain experimental yet highlight the importance of personalized protocols and ethical oversight. Genetics has seen advancements in gene-targeted therapies for syndromic forms of ASD marking a pivotal move toward precision medicine in autism, though ongoing challenges regarding safety, efficacy, and equitable access persist. This review informs clinicians, researchers, individuals with lived experiences and other important stakeholders by appraising current evidence, identifying limitations, and outlining future directions to advance rigorous, inclusive, and collaborative autism therapeutics.
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44. Sharma G, Russell AL, Dixon KG, Fusha R, Triplett JW. Extracellular spike waveform analysis reveals cell type-specific changes in the superior colliculus of fragile X mice. Open Biol. 2026; 16(2).
Sensory processing deficits are common in neurodevelopmental disorders (NDDs); however, we lack a full understanding of the circuits impacted. The superior colliculus (SC) is a sensorimotor region that directs complex behaviours, which recent work suggests is adversely impacted in NDDs. However, our understanding of cellular diversity in the SC lags in comparison to other regions, limiting our ability to parse circuit changes in NDDs. A goal of neuroscience has been to elucidate the diversity of neurons in the brain. Analysis of action potential shape in extracellular recordings has revealed subpopulations in several regions, allowing for insights into subtype-specific function in the intact brain. Here, we utilized semi-automated clustering methods to classify neurons in the mouse SC based on features of extracellularly recorded waveforms to identify five putative cell types. Secondary analysis of firing statistics and visual tuning properties supported cluster segregation. Interestingly, the proportions of units assigned to each cluster differed in a mouse model of fragile X syndrome (Fmr1-/y). Furthermore, we observed changes in waveform properties and firing statistics between genotypes in a subtype-specific manner. Taken together, these data add to our understanding of neuronal diversity in the SC and alterations of visual circuit organization and function in NDDs.
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45. Shawahna R. Burden and determinants of developmental disability in epilepsy: Insights from primary healthcare in Palestine. Clin Neurol Neurosurg. 2026; 265: 109364.
OBJECTIVE: To estimate the prevalence of developmental disability among people with epilepsy attending primary healthcare clinics in the West Bank of Palestine, and to identify demographic, clinical, and treatment‑related associated factors. METHODS: A retrospective cross‑sectional review was conducted of medical records for all patients with a confirmed diagnosis of epilepsy who attended outpatient primary healthcare clinics in the West Bank between November 2023 and June 2024. Data on demographic characteristics, medical and family history, seizure type and manifestations, and current antiseizure medication use were extracted. RESULTS: A total of 256 patients with a mean age of 12.7 years (SD = 5.8) were included in the analysis, of whom 59 (23.0%) had a documented developmental disability. In the multivariable logistic regression model, younger age remained significantly associated with developmental disability (OR = 0.91, 95% CI: 0.85-0.97, p = 0.003). In addition, a family history of epilepsy was also strongly associated with developmental disability (OR = 4.36, 95% CI: 1.52-12.55, p = 0.006). The presence of a postictal state emerged as a prominent clinical correlate (OR = 15.15, 95% CI: 3.33-68.89, p < 0.001). In terms of treatment patterns, polytherapy was significantly associated with developmental disability (OR = 2.95, 95% CI: 1.04-8.35, p = 0.042). CONCLUSIONS: This first national‑level analysis in Palestine highlights a considerable burden of developmental disability among people with epilepsy in the primary care setting. The findings underscore the need for integrated care pathways that combine seizure management with systematic developmental screening, early intervention, and targeted risk‑reduction strategies.
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46. Wang Q, Su W, Zeng L, Lin X, Yi L. Biased mental face representations of autistic children in the general population. Mol Autism. 2026.
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47. Widdison L, Barcelos AM, Tsiora S, Zarie A, Mills DS, Kargas N. Exploring Cat-Human Interaction as a Psychosocial Resource in Autism and ADHD: Risks, Engagement, and Well-Being. Behav Sci (Basel). 2026; 16(2).
Animals may offer vital psychosocial support, particularly for neurodiverse individuals. However, evidence surrounding the effects of pet ownership remains equivocal, especially in relation to cat-human dynamics. This study explored the relationship between cat-human-related factors (CHRFs) and psychological well-being in a sample of 127 adults, including individuals formally diagnosed with autism (30), ADHD (15), and/or co-occurring autism and ADHD (AuADHD; 22). Participants completed measures assessing neurodiverse traits, CHRF engagement, and symptoms of anxiety, depression, and suicidality. Spearman’s correlations analysed the relationships between CHRFs, neurodiverse traits, and well-being. Kruskal-Wallis tests established group differences in well-being and engagement in CHRFs between individuals with and without neurodevelopmental differences. The findings confirmed that autistic and ADHD traits were positively associated with greater anxiety, depression, and suicidality. Autistic individuals reported significantly elevated anxiety and depression; co-occurring diagnoses (AuADHD) were associated with heightened anxiety. Neurodiverse and neurotypical individuals demonstrated similar patterns of CHRF engagement. Several CHRFs, such as anxious cat behaviour, inability to provide for the cat, poor cat health, and close proximity, were linked to negative well-being outcomes. These findings highlight the nuanced, bi-directional nature of cat-human interactions, underscoring the importance of mitigating negative relational factors to support mental health in neurodiverse populations.
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48. Wu Y, Wong OWH, Chen S, Wang Y, Zhang G, Gao Y, Chan FKL, Ng SC, Su Q. Gut Microbiome Mediates the Causal Link Between Autism Spectrum Disorder and Dietary Preferences: A Mendelian Randomization Study. Int J Mol Sci. 2026; 27(4).
Autism spectrum disorder (ASD) frequently co-occurs with malnutrition and gut dysbiosis, yet the underlying mechanisms remain poorly understood. Herein, this cross-sectional study first profiles dietary intake differences using dietary records from 210,874 participants (ASD = 232; non-ASD = 210,642; median age = 56.18) from the UK Biobank (UKB). Second, a bi-directional Mendelian Randomization (MR) approach serves to dissect relationships between ASD genetic susceptibility and dietary preferences by leveraging genome-wide association metadata from the iPSYCH-PGC (ASD) and UKB (dietary intake/food-liking traits). The same strategy is implemented to identify ASD-associated gut microbial species. Mediation analyses further assess the role of gut microbiota in the association between ASD and dietary preferences. Subjects with ASD exhibit higher consumption of cheese, processed meat, and oily fish, alongside lower intake of fruits, and demonstrate a preference for high-fat/salt and energy-dense foods. Additionally, the depletion of Turicibacter, Streptococcus, and Lachnospiraceae NK4A136 was causally related with ASD (all false discovery rate < 0.05; β = -0.15, β = -0.10, β = -0.093, respectively), which significantly mediates the ASD-associated elevated preference for high-fat/salt foods. In conclusion, ASD is associated with specific dietary preferences, likely mediated via gut microbiota, highlighting the future potential of gut microbiome-based therapeutics to modify eating disorders for ASD.
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49. Yasmeen N, Sharma PS, Piechowska J, Lisowski W, Noworyta K, D’Souza F, Kutner W. Chemosensing of an Autism Biomarker, Gamma-Aminobutyric Acid, by Electropolymerized Molecularly Imprinted Polymers. ACS Sens. 2026; 11(2): 951-63.
We electrochemically synthesized molecularly imprinted polymer (MIP) films and simultaneously deposited them onto an interdigitated electrode array (IDEA) and a classical Pt disk electrode to devise chemosensors for the selective determination of gamma-aminobutyric acid (GABA), a biomarker of autism spectrum disorder. p-Bis(2,2′-bithien-5-yl)methyl phenol 2-hydroxy acetamide ether was used as the functional monomer due to its ability to form a stable prepolymerization complex with the GABA template in solution. The highest stability of the prepolymerization complex of GABA with different functional monomers directed the choice of the above functional monomer. The structures of these complexes were optimized using DFT calculations. Potentiodynamic electropolymerization was performed to deposit prepolymerization template and functional monomer complexes on different electrodes. After removing template molecules to generate selective molecular cavities in the resulting MIPs, we evaluated the analytical performance of these MIP films when integrated into electrochemical sensing platforms. We integrated differential pulse voltammetry (DPV) or electrochemical impedance spectroscopy (EIS) transductions with the MIP film-coated electrodes and identified EIS as the most effective for point-of-care GABA determinations. Using EIS, an MIP-film-coated platinum disk electrode detected GABA in a linear dynamic concentration range of 0.19-1.6 μM, with a limit of detection (LOD) of 0.13 μM. The MIP film deposited on the IDEA enabled GABA determination with EIS over a broader range of 8-240 μM, with an LOD of 0.39 μM, highlighting its potential for clinical applications. The EIS-determined imprinting factor was 2.7. The chemosensors were selective with respect to structural analogues of GABA. Finally, we successfully measured GABA concentrations in human serum samples, confirming the clinical applicability of the developed GABA determination method.
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50. Yu J, Volk H, Klein-Tasman BP, Zheng C, Lyall K, Fallin MD, Croen LA, Schmidt R, Newschaffer C, Hertz-Picciotto I, Kalkbrenner AE. The impact of prenatal phthalate exposure on language development trajectories in siblings of children with Autism. Int J Environ Health Res. 2026: 1-14.
Language development is a critical part of human development that unfolds across time. We aimed to examine how prenatal phthalate exposure affects early childhood language development, utilizing a robust longitudinal analysis methodology. Participants were drawn from the Early Autism Risk Longitudinal Investigation (EARLI) (n = 251) and the Markers of Autism Risk in Babies – Learning Early Signs (MARBLES) (n = 393) cohorts that recruited pregnant mothers who previously had a child with autism (ASD). Expressive and receptive language development was measured using the Mullen Scales of Early Learning (MSEL) at ages 6,12, 24, and 36 months. Fourteen phthalate metabolites were assessed in first morning urine in each trimester of pregnancy. We used latent class growth analysis (LCGA) to determine language trajectories and measure their associations with prenatal phthalqaates. We found three trajectories for both expressive and receptive languages. Most of the phthalates measured were not significantly associated with language development, though metabolites of di(2-ethylhexyl) phthalate decreased the risk of belonging to an abnormal receptive language trajectory. These observations, along with general trends observed within molecular weight classes, were largely consistent with prior literature.