Pubmed du 17/05/25
1. Allé MC, Schneider P, Rigoulot L, Gandolphe MC, Danion JM, Coutelle R, Berna F. Narrative identity differences in autism. Sci Rep. 2025; 15(1): 16990.
Autism is characterized by a modification of the sense of self, particularly self-continuity. While former studies focused on the recollection and narrative of single past events, the present study aimed to explore autistic individuals’ narrative identity by assessing for the first time their life story, described as the most integrated form of personal narrative and the closest to the self. A comparison of the narrative coherence of autistic individuals’ life stories (n = 22) with those of nonautistic participants (n = 22) revealed that global coherence, particularly causal-motivational coherence, was lower in the life narratives of autistic individuals. Additionally, typical narrative beginnings at birth and elaborated endings were less frequent in autistic individuals. In comparison with the nonautistic group, the autism group included personal events in their life narratives that were self-rated as more negative and associated with negative feelings at retrieval, along with having lower life impacts. The present study provides evidence for a different narrative identity in autism. We discussed how this effect could be related to variations in narrative coherence and temporal framework, possibly influenced by differences in others’ perspective-taking.
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2. Chari T, Hernandez A, Couto J, Portera-Cailliau C. A reduced ability to discriminate social from non-social touch at the circuit level may underlie social avoidance in autism. Nat Commun. 2025; 16(1): 4600.
Social touch is critical for communication to impart emotions and intentions. However, certain autistic individuals experience aversion to social touch. Here, we used Neuropixels probes to record neural responses to social vs. non-social interactions in somatosensory cortex, tail of striatum, and basolateral amygdala. We find that wild type mice show aversion to repeated presentations of an inanimate object but not of another mouse. Cortical neurons are modulated especially by touch context (social vs. object), while striatal neurons change their preference depending on whether mice could choose or not to interact. In contrast, Fmr1 knockout (KO) mice, a model of autism, find social and non-social interactions equally aversive, especially at close proximity, and their cortical/striatal neurons are less able to discriminate social valence. A linear model shows that the encoding of certain avoidance/aversive behaviors in cortical neuron activity differed between genotypes. Thus, a reduced capacity to represent social stimuli at the circuit level may underlie social avoidance in autism.
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3. Derin S, Tetik M, Bora E. Autistic traits in obsessive compulsive disorder: A systematic review and meta-analysis. J Psychiatr Res. 2025; 187: 181-91.
BACKGROUND: Several lines of evidence point to a strong association between OCD and autism-spectrum disorder and broader autism phenotype. However, the extent and nature of overlapping autistic traits has not been completely understood. METHOD: A systematic review in Pubmed and Scopus databases was performed to compare autistic traits between OCD patients and healthy controls (December 1990 to March 2025). A random-effects meta-analyses were conducted. RESULTS: Current meta-analysis included 27 studies consisting of 1677 patients with OCD and 1239 healthy controls. Compared to healthy controls, total autistic traits (g = 1.27, CI = 1.02, 1.53), also ratings in social-communication domain (g = 0.98, CI = 0.66, 1.31), and restricted/repetitive behaviors (RRBs) domain (g = 1.65, CI = 1.27, 2.04) were increased in OCD patients. OCD symptoms were more strongly related to RRBs domain scores (r = 0.34, CI = 0.19, 0.48) than social-communication domain scores (r = 0.18, CI = 0.09, 0.27). CONCLUSIONS: OCD is associated with significant increases in both RRBs and social-communication domains. A substantial subset of OCD emerges in youth who have autistic traits, particularly RRBs. In adults, elevated social-communication scores might, at least partly, reflect the effect of chronic OCD symptoms on social functioning rather than true increase in this domain.
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4. Gong Y, Yu L, Xia L, Jin J, Lang Y, Feng S, Feng W, Chen F, Chen Y. Broad-spectrum antioxidant and neuroprotective Prussian blue nanocatalyst for therapeutic intervention in autism spectrum disorder. Redox Biol. 2025; 84: 103671.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by diverse clinical presentations, often associated with dysregulated oxidative stress mechanisms leading to heightened production of reactive oxygen species (ROS) in the brain. Due to its multifactorial etiology, effective therapeutic approaches for ASD remain challenging to ascertain. This work engineers Prussian blue nanoparticles (PB NPs) designed to mimic the enzymatic functions of key antioxidants such as superoxide dismutase, glutathione peroxidase, catalase, and peroxidase. PB NPs effectively scavenge ROS and restore cellular redox homeostasis. These nanoparticles attenuate neuronal apoptosis by reducing activation of apoptotic markers like cleaved caspase-3 and B-cell lymphoma-2 associated X protein, while enhancing the expression of anti-apoptotic protein B-cell lymphoma-2. Furthermore, PB NPs mitigate neuroinflammation by downregulating pro-inflammatory cytokines and upregulating anti-inflammatory cytokines, thereby alleviating glial cell hyperactivity. In preclinical ASD models, PB NPs significantly improve social interaction deficits, diminish anxiety-like behaviors, and enhance cognitive functions. The therapeutic application of PB NPs represents a notable advancement in ASD treatment, offering a novel approach for clinical intervention aimed at enhancing the quality of life for individuals affected by ASD.
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5. Hinten AE, Schluter PJ, van Deurs J, van Noorden L, McLay L. Outcomes of participating in the Let’s Play programme on 0-5-year-old autistic children’s engagement and caregivers’ stress: study protocol for a parallel randomised controlled trial. BMJ Open. 2025; 15(5): e081030.
INTRODUCTION: Vast empirical evidence highlights the importance of early identification, diagnosis and support for autistic children. Caregivers of autistic children often experience high levels of psychological distress; hence there is a need for parallel child and caregiver support. Autism New Zealand’s Let’s Play programme is a caregiver-mediated, community-based programme based on the principles of developmental and relational interventions (henceforth, developmental). Developmental interventions are evidence-based supports designed to enhance children’s learning within the context of developmentally appropriate, naturalistic settings (eg, everyday routines, play). We aim to evaluate the effects of the Let’s Play programme on autistic children’s engagement and caregiver stress. METHODS AND ANALYSIS: This study will be a single-blind (rater) randomised controlled trial with two parallel arms: immediate programme access (intervention) versus a waitlist control. Participants will be 64 caregivers of children aged 0-5 years with diagnosed or suspected autism, allowing for 20% attrition, based on power calculations. The Let’s Play programme will be delivered over 9 weeks using a combination of small group workshops and in-home coaching. Primary outcome variables include child engagement and caregiver stress. Caregivers will complete measures at three time points (baseline, immediately post-programme and at the 6-month follow-up), and effectiveness will be analysed using generalised estimating equation models and intention-to-treat and per protocol analyses. ETHICS AND DISSEMINATION: This trial was approved by Aotearoa New Zealand Ministry of Health’s Health and Disability Ethics Committee (2022 FULL 13041). Findings will be communicated nationally and internationally via conferences, journal publications and stakeholder groups (eg, service providers for autistic children). Results will be shared regardless of magnitude or direction of effect. TRIAL REGISTRATION NUMBER: ACTRN12622001139763.
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6. Horsdal HT, Albiñana C, Zhu Z, Boelt SG, Borbye-Lorenzen N, Cohen AS, Skogstrand K, Melgaard L, MacSween NJ, Thorbek MJ, Plana-Ripoll O, Petersen LV, Bulik CM, AD BR, Mors O, Nordentoft M, Werge T, Moen GH, D’Urso S, Wray NR, Vilhjálmsson BJ, Agerbo E, Pedersen CBC, Mortensen PB, McGrath JJ. Convergent evidence linking neonatal vitamin D status and risk of neurodevelopmental disorders: a Danish case-cohort study. Lancet Psychiatry. 2025; 12(6): 410-20.
BACKGROUND: There is growing evidence linking neonatal vitamin D deficiency to an increased risk of schizophrenia, ADHD, and autism spectrum disorder (ASD). The aim of this study was to examine the association between two vitamin D biomarkers (25 hydroxyvitamin D [25(OH)D] and vitamin D-binding protein [DBP], and their related genetic correlates) and the risk of six mental disorders. METHODS: We used a population-based, case-cohort sample of all individuals born in Denmark between 1981 and 2005. Using Danish health registers with follow-up to Dec 31, 2012, we identified individuals diagnosed with major depressive disorder, bipolar disorder, schizophrenia, ADHD, ASD, and anorexia nervosa based on ICD-10 criteria. Additionally, a random subcohort from the general population was selected. Based on neonatal dried blood spots, we measured concentrations of 25(OH)D and DBP. Our primary analyses were based on hazard ratios (HR) with 95% CI and absolute risks for the six mental disorders according to measured concentrations of 25(OH)D and DBP. As secondary analyses, we examined the association between genetic predictors of 25(OH)D and DBP, and the six mental disorders, and Mendelian randomisation analyses based on published summary statistics for 25(OH)D, DBP, and the six mental disorders. People with lived experience contributed to the development of the guiding hypothesis. FINDINGS: We used the total population from the iPSYCH2012 design (n=88 764), which included individuals who developed the six mental disorders, major depressive disorder (n=24 240), bipolar disorder (n=1928), schizophrenia (n=3540), ADHD (n=18 726), ASD (n=16 146), anorexia nervosa (n=3643), and the randomly sampled subcohort (n=30 000). Among those who met a range of inclusion criteria (eg, measured 25[OH]D, DBP or genotype, and predominantly European ancestry), we measured 25(OH)D or DBP in 71 793 individuals (38 118 [53·1%] male and 33 675 [46·9%] female); 65 952 had 25(OH)D and 66 797 the DBP measurements. Significant inverse relationships were found between 25(OH)D and schizophrenia (HR 0·82, 95% CI 0·78-0·86), ASD (HR 0·93, 95% CI 0·90-0·96), and ADHD (HR 0·89, 95% CI 0·86-0·92). A significant inverse relationship was found between DBP and schizophrenia (HR 0·84, 95% CI 0·80-0·88). Based on polygenic risk scores, higher concentrations of 25(OH)D (adjusted for DBP) were significantly associated with a reduced risk of both ASD and schizophrenia. Analyses based on Mendelian randomisation provided support for a causal association between both lower 25(OH)D and DBP concentrations and an increased risk of ADHD. INTERPRETATION: Convergent evidence finds that neonatal vitamin D status is associated with an altered risk of mental disorders. Our study supports the hypothesis that optimising neonatal vitamin D status might reduce the incidence of a range of neurodevelopmental disorders. FUNDING: The Danish National Research Foundation.
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7. Hotez E, Tsevat RK, Tao S, Phan JM, Smith P, Shen T, Ventimiglia J, Rivera L, Kissner H, Croen LA, Shea L. Autism, Obesity, and PTSD Among Adolescents and Young Adults: An Analysis of National Medicaid Claims Data. J Autism Dev Disord. 2025.
Autistic individuals disproportionately experience obesity, cardiovascular disease, diabetes, and a range of other adverse health outcomes, relative to both the general population and those with other developmental conditions. These individuals also disproportionately experience Post-Traumatic Stress Disorder (PTSD). Many of these conditions emerge during adolescence and young adulthood (age 15-30). This study analyzed Medicaid claims data (2008-2019) from autistic (n = 627,586; M age = 17.15 [3.55]) and non-autistic (n = 1,223,161; M age 19.35 [4.56]) adolescent and young adults. Using logistic regression and adjusting for demographic and clinical characteristics, this study: (1) evaluated associations between the presence of autism, obesity, and other health co-morbidities using the Adolescent and Young Adult (AYA) Hope Comorbidity Index; and (2) tested PTSD as a moderator in these associations. Compared with non-autistic beneficiaries, autistic beneficiaries demonstrated 2.12 (95% CI: 2.09, 2.15) and 2.12 (95% CI: 2.09, 2.16) times the odds of having obesity and other health comorbidities, respectively. PTSD moderated these associations such that autism status was more strongly associated with obesity and health co-morbidities among those without a PTSD diagnosis compared to those with a PTSD diagnosis. Autistic adolescents and young adults experience higher rates of obesity, health co-morbidities, and PTSD relative to their non-autistic counterparts. Future work is needed to explore measurement of stress and trauma beyond PTSD diagnoses and elucidate the precise association between stress and trauma with adverse health outcomes in this population.
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8. Kanna RM. Answer to the letter to the editor of D. Li, et al. concerning « Do all symptomatic adjacent segment diseases (ASD) require surgery? A prognostic classification and predictors of surgical treatment of lumbar ASD » by RM Kanna, et al. (Eur Spine J [2025]: doi: 10.1007/s00586-025-08797-x). Eur Spine J. 2025.
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9. Nijhof D, Sosenko F, Ward LM, Cairns D, Hughes L, Rydzewska E. Making a Case for an Autism-Specific Multimorbidity Index: A Comparative Cohort Study. J Autism Dev Disord. 2025.
Autistic people experience challenges in healthcare, including disparities in health outcomes and multimorbidity patterns distinct from the general population. This study investigated the efficacy of existing multimorbidity indices in predicting COVID- 19 mortality among autistic adults and proposes a bespoke index, the ASD-MI, tailored to their specific health profile. Using data from the CVD-COVID-UK/COVID-IMPACT Consortium, encompassing England’s entire population, we identified 1,027 autistic adults hospitalized for COVID- 19, among whom 62 died due to the virus. Predictors were selected using logistic regression with fivefold cross-validation, comparing AUCs amongst multimorbidity indices. Diabetes, coronary heart disease, and thyroid disorders were selected as predictors for the ASD-MI, outperforming the Quan Index, a general population-based measure, with an AUC of 0.872 versus 0.828, respectively. Notably, the ASD-MI exhibited better model fit (pseudo-R2 0.25) compared to the Quan Index (pseudo-R2 0.20). These findings underscore the need for tailored indices in predicting mortality risks among autistic individuals. However, caution is warranted in interpreting results, given the limited understanding of morbidity burden in this population. Further research is needed to refine autism-specific indices and elucidate the complex interplay between long-term conditions and mortality risk, informing targeted interventions to address health disparities in autistic adults. This study highlights the importance of developing healthcare tools tailored to the unique needs of neurodivergent populations to improve health outcomes and reduce disparities.
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10. O’Brien MK, McQuaid GA, McNulty JR, Wallace GL, Lee NR. Characterizing Inhibitory Control Challenges Among Autistic Adults: An Examination of Demographic and Psychiatric Moderators and Associations with Anxiety Symptomatology. J Autism Dev Disord. 2025.
Autism spectrum disorder is associated with elevated rates of mental health difficulties and executive function challenges. Emerging evidence links executive function to mental health in autistic individuals. However, less is known about (a) everyday inhibitory control difficulties among autistic adults; (b) the influence of sex assigned at birth and co-occurring attention deficit/hyperactivity disorder (ADHD) features on inhibition challenges; and (c) relations between inhibition challenges and anxiety symptoms. Drawing upon data from 732 autistic adults aged 18-83, this online study examined self-reported inhibitory control in autistic adults and the influence of assigned sex and ADHD screening status (based on a positive screening score on a self-report tool) on the degree of inhibitory control challenges experienced. In addition, this research examined relations between inhibitory control challenges and anxiety symptoms, and the moderating role of assigned sex and ADHD screening status in this relationship. Autistic adults endorsed significantly more inhibitory control challenges relative to published norms. Participants assigned female reported more difficulties in inhibitory control relative to sex-adjusted normative expectations than participants assigned male. Participants who screened positive for ADHD reported more inhibitory control challenges than those who screened negative. Greater endorsement of inhibitory control challenges was associated with greater anxiety symptomatology; this relationship was moderated by ADHD screening status, but not by assigned sex. Inhibitory control is an area of difficulty in autistic adults and is associated with anxiety symptomatology, suggesting that inhibitory control may be a valuable intervention target to improve emotional well-being in autistic adults.
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11. O’Sharkey K, Chow T, Mitra S, Thompson L, Su J, Cockburn M, Liew Z, Ritz B. Exploring the link between grandmaternal air pollution exposure and Grandchild’s ASD risk: A multigenerational population-based study in California. Environ Int. 2025; 200: 109526.
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with increasing prevalence. While genetics play a strong causal role, among environmental factors, air pollution (AP) exposure in pregnancy and infancy has been strongly endorsed as a risk factor. However, potential multigenerational impacts through the exposure of the grandmother during her pregnancy remain unexplored. METHODS: Using a multigenerational, population-based cohort from California spanning three decades (1990-2019), we examined the association between grandmother’s gestational AP exposure (PM(2.5), NO(2), O(3)) and ASD risk in grandchildren using logistic regression per 1-IQR unit increase, adjusting for maternal exposure in pregnancy or infant’s exposure in the first year of life. We used continuous AP exposure as well as a categorical variable representing high and/or low (above or below median) exposure levels for both the grandmaternal and maternal pregnancies. Pregnancy and first year of life AP exposures were assigned using a land-use regression model with advanced machine-learning approaches. RESULTS: We observed associations between PM(2.5) (OR = 1.07, 95 % CI: 1.05, 1.10) and NO(2) (OR = 1.09, 95 % CI: 1.05, 1.13) exposure during the grandmaternal pregnancy and increased ASD risk in the grandchild. However, only for PM(2.5) did the increased effect estimates persist after adjusting for maternal pregnancy exposure (OR = 1.05; 95 % CI: 1.02, 1.08). High compared to low exposures in both grandmaternal and maternal pregnancies to PM(2.5) (OR = 1.16, 95 % CI: 1.11, 1.23) and NO(2) (OR = 1.12, 95 % CI: 1.06, 1.17) showed the strongest joint effects for ASD in the grandchild. CONCLUSIONS: Multigenerational exposure to air pollution, particularly PM(2.5) exposure in grandmaternal pregnancy, may influence ASD risk. Our study also suggests that ASD risk due to air pollution may be compounded by multigenerational exposures.
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12. Postogna FM, Roggero OM, Biella F, Frasca A. Interpreting the rich dialogue between astrocytes and neurons: An overview in Rett syndrome. Brain Res Bull. 2025; 227: 111386.
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females, with an incidence of 1 in 10,000 live births. It is caused mainly by de novo mutations in the X-linked MECP2 gene, which encodes methyl-CpG binding protein 2 (Mecp2), a key epigenetic regulator. MECP2 mutations have profound impacts on neurons, which exhibit morphological, synaptic and functional impairments. However, more recent evidence highlights a crucial role of astrocytes in RTT pathogenesis. Indeed, RTT astrocytes exhibit structural and functional impairments, failing to support neuronal growth and function through non-cell autonomous mechanisms. Studies reveal that MECP2 deficient astrocytes secrete abnormal factors that impair neuronal growth and synaptic function. Furthermore, they show dysregulated calcium signalling, disrupted glutamate and potassium homeostasis, and increased inflammatory responses, all of which contribute to neuronal dysfunction. Understanding these neuron-astrocyte interactions may offer novel therapeutic targets for RTT. In the review we aim at presenting the current knowledge of astrocyte-neuron crosstalk in RTT, describing the different mechanisms highlighted so far through which MECP2 mutant astrocytes impair neurons. Finally, we discuss existing and prospective methodological approaches for investigating cell-to-cell communication in RTT.
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13. Raj A, Ratnaik R, Sengar SS, Fredo ARJ. Characterizing ASD Subtypes Using Morphological Features from sMRI with Unsupervised Learning. Stud Health Technol Inform. 2025; 327: 1403-7.
In this study, we attempted to identify the subtypes of autism spectrum disorder (ASD) with the help of anatomical alterations found in structural magnetic resonance imaging (sMRI) data of the ASD brain and machine learning tools. Initially, the sMRI data was preprocessed using the FreeSurfer toolbox. Further, the brain regions were segmented into 148 regions of interest using the Destrieux atlas. Features such as volume, thickness, surface area, and mean curvature were extracted for each brain region. We performed principal component analysis independently on the volume, thickness, surface area, and mean curvature features and identified the top 10 features. Further, we applied k-means clustering on these top 10 features and validated the number of clusters using Elbow and Silhouette method. Our study identified two clusters in the dataset which significantly shows the existence of two subtypes in ASD. We identified the features such as volume of scaled lh_G_front middle, thickness of scaled rh_S_temporal transverse, area of scaled lh_S_temporal sup, and mean curvature of scaled lh_G_precentral as the significant features discriminating the two clusters with statistically significant p-value (p<0.05). Thus, our proposed method is effective for the identification of ASD subtypes and can also be useful for the screening of other similar neurological disorders.
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14. Shafer RL, Bartolotti J, Driggers A, Bojanek E, Wang Z, Mosconi MW. Visual feedback and motor memory contributions to sustained motor control deficits in autism spectrum disorder across childhood and into adulthood. J Neurodev Disord. 2025; 17(1): 26.
BACKGROUND: Autistic individuals show deficits in sustained fine motor control which are associated with an over-reliance on visual feedback. Motor memory deficits also have been reported during sustained fine motor control in autism spectrum disorders (ASD). The development of motor memory and visuomotor feedback processes contributing to sustained motor control issues in ASD are not known. The present study aimed to characterize age-related changes in visual feedback and motor memory processes contributing to sustained fine motor control issues in ASD. METHODS: Fifty-four autistic participants and 31 neurotypical (NT) controls ages 10-25 years completed visually guided and memory guided sustained precision gripping tests by pressing on force sensors with their dominant hand index finger and thumb. For visually guided trials, participants viewed a stationary target bar and a force bar that moved upwards with increased force for 15s. During memory guided trials, the force bar was visible for 3s, after which participants attempted to maintain their force output without visual feedback for another 12s. To assess visual feedback processing, force accuracy, variability (standard deviation), and regularity (sample entropy) were examined. To assess motor memory, force decay latency, slope, and magnitude were examined during epochs without visual feedback. RESULTS: Relative to NT controls, autistic individuals showed a greater magnitude and a trend for a steeper slope of force decay during memory guided trials. Across conditions, the ASD group showed reduced force accuracy (β = 0.41, R(2) = 0.043, t(79.3)=2.36, p = .021) and greater force variability (β=-2.16, R(2) = 0.143, t(77.1)=-4.04, p = .0001) and regularity (β=-0.52, R(2) = 0.021, t(77.4)=-2.21, p = .030) relative to NT controls at younger ages, but these differences normalized by adolescence (age x group interactions). Lower force accuracy and greater force variability during visually guided trials and steeper decay slope during memory guided trials were associated with overall autism severity. CONCLUSIONS: Our findings that autistic individuals show a greater magnitude and tendency for a greater rate of force decay than NT individuals following the removal of visual feedback indicate that motor memory deficits contribute to fine motor control issues in ASD. Findings that sensorimotor differences in ASD were specific to younger ages suggest delayed development across multiple motor control processes.
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15. Shen L, Chen L, Tang Y, Yan Y, Xiong T, Liu Y, Li H, Gu H. PRRG4 Brain-Specific Conditional Knockout Mice Display Autism Spectrum Disorder-Like Behaviors. Biol Proced Online. 2025; 27(1): 16.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized primarily by social deficits and repetitive behaviors. The mechanisms of ASD are complex and are not yet fully understood, although many ASD risk genes and mouse models have been reported. It has been suggested that deletion of PRRG4 (proline-rich and Gla domain 4) deletion may contribute to autism symptoms in patients with WAGR (Wilms’ tumor, aniridia, gonadoblastoma, mental retardation) syndrome. The mouse model with PRRG4 gene deletion has not been reported so far. This study investigated whether brain-specific conditional knockout of PRRG4 induces ASD-like symptoms in mice by crossing the PRRG4(fl/fl) mice with Emx1-Cre mice, which express Cre in the cerebral cortex and hippocampus. RESULTS: The PRRG4 brain-specific knockout (PRRG4(fl)/(fl)-Cre(+), PRRG4-CKO) mice exhibited social deficits, repetitive behaviors, and anxiety-like symptoms compared to PRRG4(fl/fl) control mice according to the results of various behavioral tests. PRRG4 knockout led to the increase in total dendritic length, branching, and dendritic spine density in the pyramidal neurons of the cerebral cortex and hippocampus, as well as enhanced levels of synaptic proteins including SYP and PSD95. Immunoprecipitation experiment with PRRG4 antibodies showed dramatic decreased interaction of PRRG4 and MAGI2 proteins in brain tissues from PRRG4-CKO mice compared to PRRG4(fl/fl) control mice. GST-RBD pull-down assay showed a significant decrease in RhoA-GTP levels in the cerebral cortex and hippocampus of PRRG4-CKO mice. CONCLUSIONS: Brain-specific conditional knockout of the PRRG4 in mice leads to ASD-like symptoms. PRRG4 protein may regulate dendritic and synaptic development in mice by activating RhoA through interaction with MAGI2. These findings provide evidence for a comprehensive understanding of PRRG4 function in vivo and support the association between PRRG4 loss and ASD phenotypes observed in WAGR syndrome.
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16. Wechsler DL, Mandy W, Lai MC, Boyd B, Goodwin MS, Divan G, Carter Leno V. Advancing health-care equity for autistic people: mental health as a key priority. Lancet. 2025; 405(10491): 1723-6.
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17. Zhang Y, Li H, Gu W, Gong G, Chen A, Zhou D, Song Y, Lin L, Zheng S, Deng Z, Bapi RS, Sun J, Cong F, Beckmann CF. Atypical brain function hierarchy in autism spectrum disorder: insights from a novel analytical approach based on neuronal oscillation pattern. Eur Child Adolesc Psychiatry. 2025.
Hierarchy is the basic character of the human brain. Neuronal oscillation is one of the fundamental features of brain function, revealing abnormal hierarchical structures in psychiatric disorders from a system-level perspective. However, to date, no research has yet quantified the normal and abnormal brain functional hierarchy based on oscillation patterns. Therefore, this study aimed to quantify brain hierarchy based on neuronal oscillation patterns using the wide-scale information across multiple frequency bands of functional magnetic resonance imaging (fMRI) data and further investigate atypical oscillation patterns in autism spectrum disorder (ASD) at the system level. We analyzed resting-state fMRI data from the Autism Brain Imaging Data Exchange II, including 132 participants with ASD and 132 healthy controls. The energy distribution patterns (EDPs) across frequency bands were calculated for different brain networks using multivariate empirical mode decomposition and Hilbert Transform to represent oscillation patterns. The gradient analysis was applied to quantify the EDP segregation among networks, and the network median distance of gradients was compared between the two groups. The k-means clustering was applied to intuitively verify the atypical EDP in ASD. Across all participants, we observed that the EDPs of different brain regions were spatially coupled to the brain hierarchy. Compared to healthy controls, the ASD exhibited reduced segregation between unimodal and transmodal regions on both energy gradient and clustering analyses, correlating with social deficits. Our results quantitatively confirm that oscillation patterns can reflect the functional segregation among networks and provide novel evidence of the system-level imbalances in neuronal oscillations in ASD.
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18. Zotti L, Esposito D, Di Iorio G, Covuccia M, Orecchio S, Ferrara M, Conte G. Challenges to high-quality care in autism with functional somatic symptoms: A case-inspired narrative review and exploratory biopsychosocial model. Clin Child Psychol Psychiatry. 2025: 13591045251343692.
BackgroundChildren and adolescents with autism spectrum disorder (ASD) frequently experience functional somatic symptoms (FSS), although the underlying causes often remain unclear. Various biological and psychological factors, both individual and within families, such as alexithymia or health anxiety, can intensify these symptoms, sometimes resulting in excessive and unnecessary medical interventions.MethodsA narrative review of the literature was conducted, alongside the presentation of a case report involving a 13-year-old boy with ASD. The case illustrates how personal and familial factors can influence the presentation of FSS and the risks of inappropriate treatment.DiscussionThe findings suggest that psychological and familial factors play a significant role in the manifestation of FSS in ASD. These factors can increase the risk of unnecessary medicalization, as they often lead to misinterpretation of symptoms by caregivers and healthcare providers. The case report further underscores how the interaction of personal and familial dynamics can complicate the management of FSS. A comprehensive biopsychosocial approach that addresses both the individual and the family is crucial for managing FSS in ASD. Future research should focus on developing targeted interventions that address these psychological and familial influences to enhance the quality of care and reduce unnecessary and potentially harmful healthcare utilization in ASD. Barriers to Effective Healthcare for Autism with Physical Symptoms: A Holistic Approach: Children and adolescents with autism often experience physical symptoms like stomach aches or headaches, but doctors can struggle to find a medical reason for them. These are known as “functional somatic symptoms” (FSS), meaning the symptoms don’t stem from any physical disease. This can lead to unnecessary medical tests and treatments. The study highlights how factors such as family stress and difficulty understanding emotions (a condition called alexithymia) play a role in making these symptoms worse. A case report of a 13-year-old boy with autism is discussed, where the family was suspected of fabricating or exaggerating the boy’s symptoms, resulting in numerous hospital visits and invasive tests. However, the study shows that these suspicions may stem from a misunderstanding of the boy’s condition, emphasizing the need to assess both the emotional and family context when managing FSS in autism. By using a holistic biopsychosocial model, which takes into account the body, mind, and family environment, the study recommends that both the individual and family should be involved in the treatment plan. This approach can lead to better health outcomes and less strain on families. eng.