Pubmed (TSA) du 02/02/26
1. Huang F, Wei Y, Zidong L, Yang L, Fu J. Diffusion Tensor Imaging (DTI) Combined with Diffusion Tensor Tractography (DTT) in the Brain Function and Volumetric Imaging in Children with Autism. SLAS Technol;2026 (Jan 30):100400.
OBJECTIVE: To explore the application value of DTI combined with DTT in brain function and volume in children with autism. METHODS: A total of 616 children with autism diagnosed from January 2020 to December 2022 (ASD group) and 91 healthy children with age and gender matching (control group) were included in the study. All subjects underwent DTI and DTT examinations. The DTI-DTT examination was conducted to analyze the Fractional Anisotropy (FA) values of key brain regions such as the corpus callosum and internal capsule, and the correlation and diagnostic efficacy were analyzed with the scores of the Autism Behavior Checklist (ABC). RESULTS: The total scores of ABC and each factor in the ASD group were significantly higher than those in the control group (p<0.05). The FA values of the knee joint and compressed part of the corpus callosum as well as the anterior and posterior limbs of the internal capsule in the ASD group were significantly higher than those in the control group (p<0.05). Relevant analysis showed that the FA values of the anterior and posterior limbs of the capsule in the ASD group were moderately positively correlated with the scores of sensory and body movement factors in the ABC scale (p<0.01). The FA values of the knee and compression parts of the corpus callosum were also moderately positively correlated with the communication and connection factor scores (p<0.01). ROC curve analysis indicated that the FA values of the above-mentioned brain regions had a high diagnostic value for ASD (AUC values were all >0.64). CONCLUSION: The combination of DTI and DTT effectively reveals the microstructure abnormalities of the main white matter pathways (such as the corpus callosum and internal capsule) in children with autism. These abnormalities are significantly correlated with specific behavioral symptoms. This combined imaging technology provides important neuroimaging evidence for the early objective diagnosis and rehabilitation intervention of children with autism.
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2. Kim Y, Choe I, Tabrizi M, Ioanitoaia-Chaudhry I, Namkung Y, Wallace SM, Namkung H, Bae G, Yoo JW. Human papilloma virus, workforce training, and telehealth as another considerations for sexual health care among autistic individuals. Disabil Health J;2026 (Jan 29):102031.
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3. Shan M, Yu L, Hu T, Li X, Zhang Q, Zhang H, Guo Q, Xie H, Cheng H. Autism spectrum disorder comorbid with epilepsy: Etiology, mechanism, and therapy. Neural Regen Res;2026 (Jan 27)
With the advancing understanding of autism spectrum disorder comorbid with epilepsy, a growing body of research has recently focused on the specific comorbidity of autism spectrum disorder and epilepsy. This paper reviews the current state of research and prospects regarding the etiology, mechanisms, and treatment of autism spectrum disorder comorbid with epilepsy. Current research on the causes of this comorbidity suggests that a combination of hereditary and environmental factors plays a role. Genetic causes include gene mutations, chromosomal copy number variations, and single nucleotide polymorphisms. Environmentally, factors such as imbalanced nutrient intake and prenatal exposure to sodium valproate are notably associated with this comorbidity. The imbalance between excitation and inhibition emerges as the most critical pathophysiological process, primarily involving the GABAergic and glutamatergic systems. Additionally, dysfunction in glial cells, particularly astrocytes, exacerbates this imbalance. As a result, the brain fails to establish normal networks during development, leading to clinical manifestations such as social dysfunction, repetitive and stereotypic behaviors, and epileptic seizures. Conversely, immunological mechanisms, such as maternal immune activation, are key factors in the comorbidity of autism spectrum disorder and epilepsy, influenced by environmental factors, and provide insights for prevention. Current treatments include pharmacotherapy, neurostimulation, dietary therapy, and immunotherapy. Pharmacotherapy mainly manages symptoms, with drugs such as cannabidiol showing promise but lacking robust clinical evidence. Neurostimulation, a promising treatment, is divided into invasive and non-invasive methods. Invasive techniques, such as deep brain stimulation and vagus nerve stimulation, are used for drug-resistant epilepsy and can also improve the symptoms of autism spectrum disorder. Non-invasive neurostimulation methods, such as transcranial electrical and magnetic stimulation, are still in the early research stages and require further validation. Dietary therapy offers potential for managing comorbidities through food selectivity interventions, nutrient supplements, and specialized diets. Immunotherapy is proposed based on the immunological aspects of these comorbidities, but further study is needed. This review helps enhance the understanding of treatment mechanisms by examining the causes and development of autism spectrum disorder and epilepsy. It recommends a clinical approach based on the « etiology-mechanism-treatment » model.
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4. Vermudez SAD, Freitas GA, Smith M, Gogliotti RG, Niswender CM. Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy. Neuroscience;2026 (Jan 30)
Rett syndrome (RTT) is caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) transcription factor. RTT patients undergo a developmental regression between 6-18 months of age, resulting in the presentation of symptoms including repetitive behaviors, seizures, autistic-like features, and apneas. We have reported that levels of metabotropic glutamate receptor 7 (mGlu(7)) are significantly decreased in brain samples from RTT patients carrying truncation mutations in the MECP2 gene. Additionally, we have identified decreases in Mecp2(+/-) mice and demonstrated that administration of a positive allosteric modulator (PAM) with activity at mGlu(7) corrected deficits in cognitive, social, and respiratory domains. Here, we expanded our studies to a larger cohort of RTT samples covering a range of mutations and evaluated expression of the three widely expressed group III mGlu receptors (mGlu(4,7 and 8)). We found significant decreases in mGlu(7), but not mGlu(4) or mGlu(8), mRNA expression across this larger cohort; additionally, we identified a previously unknown correlation in the expression of mGlu(4) and mGlu(8) in human brain samples. Stratification of RTT patients into those with classically severe versus mild MECP2 pathogenic mutations revealed statistically significant decreases in mGlu(7) expression only in patients with mutations associated with severe symptoms. To establish whether target disruption is required for efficacy, we administered the PAM VU0422288 to mice modeling the mild R306C mutation (Mecp2(R306C/+)) and found a significant reduction in apneas. These results provide the first evidence of potentially broad utility for mGlu(7) PAMs in reducing apneas across the RTT spectrum.
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5. Volvovitz B, Newson A, Milosevic A, Timic Stamenic T, Useinovic N, Milosavljevic N, Todorovic SM, Jevtovic-Todorovic V. Sevoflurane, but not alphaxalone, causes lasting autism spectrum disorder-like pathology in male mice after exposure occurs during synaptogenesis. Neuropharmacology;2026 (Jan 30):110861.
BACKGROUND AND PURPOSE: Early-life general anesthesia (GA) may cause changes in socio-emotional behaviors in animals and autism spectrum disorder (ASD) in humans. The mechanisms behind GA-induced ASD symptoms are unknown. We investigate the mTOR activation as a potential cause of ASD. We assess ASD-like pathology after neonatal GA exposure to a volatile agent, sevoflurane, or an injectable GA, alphaxalone. EXPERIMENTAL APPROACH: We exposed male mouse pups on postnatal day 7 (PND7) to sevoflurane or alphaxalone (and their respective vehicles) for 6 hours. We performed histomorphological analysis of caspase-3 activity in subiculum two hours post-GA exposure and Western blot analysis of mTOR activation in hippocampus 24 hours post-GA exposure. Spike firing in thalamic neurons was assessed at 4-6 weeks post-GA exposure. Behavioral tests for ASD-like features, including ultrasonic vocalization (USV) at PND8, nestlet shredding, marble burying, and 3-chamber social tests were conducted in adulthood. KEY RESULTS: Sevoflurane, unlike alphaxalone, induced more nestlet shredding/marble burying compared to controls, and caused a shift away from the social preference and towards inanimate object. USV suggested a reduction in ultrasonic calls after sevoflurane, but not alphaxalone. The behavioral changes with sevoflurane were accompanied by an increase in caspase-3 activation, hyperactivation of mTOR, and an increase in neuronal firing compared to controls. The sevoflurane effects were largely reversed with rapamycin (a negative modulator of mTOR). CONCLUSION AND IMPLICATIONS: Unlike sevoflurane, alphaxalone does not cause long-lasting ASD-type behaviors and does not affect the mTOR activation and histomorphology, suggesting that alphaxalone could be a safer alternative to sevoflurane.
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6. Zhao Y, Zhang Y, Li T. Causal relationships between ADHD, ASD and brain structure: A mendelian randomization study. Prog Neuropsychopharmacol Biol Psychiatry;2026 (Jan 30):111631.
Neurodevelopmental disorders (NDDs) are debilitating conditions that impose significant burdens on individuals, families, and society. Despite evidence demonstrated altered brain structure in NDDs, definitive conclusions remain elusive. Using two-sample mendelian randomization (MR) and the latest GWAS findings, the current study aimed to elucidate the causal relationships between grey matter (GM), white matter (WM), subcortical regions, and two prevalent NDDs: attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Our findings identified two frontal regions as key neural substrates in NDDs. Specifically, an increased surface area (SA) of the superior frontal gyrus (SFG) was significantly associated with an enhanced risk of ADHD (P = 2.04E-13, β = 4.28E-02, SE = 5.82E-03), while a larger SA of the orbital frontal gyrus (OFG) was associated with a reduced risk of ASD (P = 1.98E-42, β = -9.8E-02; SE = 0.007). Regarding WM tracts, the mode of anisotropy (MO) in the inferior fronto-occipital fasciculus (IFO) emerged as a causal factor for ADHD (P = 3.36E-70, β = -18.35; SE = 1.04), whereas the MO in the retro-lenticular part of the internal capsule (RLIC) was implicated in ASD (P = 1.37E-04, β = -12.73, SE = 3.34). No reverse causal link, i.e., brain alteration caused by NDDs was identified. Further mediation analyses using functional MRI (fMRI) GWAS data revealed that brain functional activities mediated the relationship between structural brain changes and NDDs risk. In conclusion, our findings underscored the critical role of the frontal lobe and association and projection fibers in the pathophysiology of NDDs, provide novel insights into the neural mechanisms underlying ADHD and ASD.
