Pubmed du 28/08/25
1. Chen Y, Zhang Y, Wu B, Cheng Y, Huang J, Wang C, Bai J, Zhang Y. Exploring the causal relationship between bipolar disorders and sensory, motor, and behavioral disorders: A bidirectional Mendelian randomization analysis. Medicine (Baltimore). 2025; 104(34): e44056.
The interrelationships between bipolar disorder (BD) and sensory, motor, and behavioral disorders are intricate and not well defined. While observational studies indicate potential associations, causal relationships have not been established. This study applies bidirectional Mendelian randomization (MR) analysis to examine potential causal links between BD and these disorders. Bidirectional MR analysis uses summary-level data from genome-wide association studies (GWAS). Genetic instruments are selected according to stringent significance thresholds and linkage disequilibrium (LD) criteria. The primary analytical approaches include inverse-variance weighted (IVW) MR and MR-Egger regression. Instrument strength is assessed using F-statistics. Significant bidirectional associations are identified. BD is associated with increased genetic susceptibility to pruritus (OR = 1.29, 95% CI: 1.06-1.57), small fiber neuropathy (OR = 1.64, 95% CI: 1.03-2.61), hyperkinetic disorders (OR = 2.02, 95% CI: 1.26-3.23), anorexia nervosa (OR = 1.19, 95% CI: 1.01-1.40), and autism spectrum disorder (OR = 1.10, 95% CI: 1.01-1.20). Conversely, pruritus and psoriasis are identified as significant genetic risk factors for BD (pruritus: OR = 1.04, 95% CI: 1.01-1.08; psoriasis: OR = 9.97, 95% CI: 1.85-53.67). Motor disorders are associated with a protective effect against BD (OR = 0.88, 95% CI: 0.80-0.96). This study demonstrates significant bidirectional causal associations between BD and sensory, motor, and behavioral disorders, underscoring the importance of early screening and integrated clinical management. Shared genetic and neurobiological mechanisms may inform the development of targeted interventions and therapeutic strategies.
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2. Choi B, Lee H, Kuhn L, Kim J, Hong SJ, Di Martino A, Gozzi A, Lombardo MV, Morrison FJ, Lord C, Kim SH. Executive function predicts academic and social skills in autistic kindergartners based on a multimodal approach. J Child Psychol Psychiatry. 2025.
BACKGROUND: Executive functions (EF) are cognitive processes that underlie goal-directed abilities and behaviors which have been found to be variable in autistic children. While EFs are well-established predictors of academic and social outcomes in neurotypical children, it is unclear if these same associations are true for children with autism spectrum disorder (ASD). This study examined the relation between EF and academic and social skills in cognitively able, verbal kindergarteners with ASD, while using a multimeasurement approach to EF skills. METHODS: Participants included 67 autistic children aged 4-6 years longitudinally followed from kindergarten entry to exit. Children’s EF was measured using a multimodal assessment approach with a computerized EF battery, behavioral observation, and parent report. Academic achievement and social skills were evaluated through a standardized assessment and parent report, respectively. Multiple regression models were conducted to explore the associations of EF with academic and social outcomes, while controlling for key demographic factors (e.g. age, sex, nonverbal IQ). RESULTS: EF, measured through the computerized battery, was significantly associated with math achievement when controlling for age, sex, and nonverbal IQ, both concurrently and longitudinally. EF difficulties, as reported by parents, were closely linked to current and later parent-reported peer play challenges. CONCLUSIONS: These findings indicate that EF may be critical foundational skills for school success in young autistic children at school transition. Therefore, targeted EF interventions could be a powerful way to optimize academic and social development in autistic kindergarteners. The results also highlight the importance of a multimeasurement approach to EF assessment, as it provides a more comprehensive understanding of the broader impact of EF on key developmental outcomes in ASD.
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3. Gordon-Brown A, Murray CA, Hayden NK, Hastings RP, Mahon D, Flynn S. ‘You Understand Me’: Experiences of Peer Mentors Delivering Support for a Mindfulness Intervention to Family Carers of People With Intellectual and Developmental Disabilities. J Appl Res Intellect Disabil. 2025; 38(4): e70102.
BACKGROUND: Family carers of people with intellectual and developmental disabilities are at increased risk of stress and often face barriers to accessing appropriate supports. Peer support can enhance the effects of well-being interventions, yet research is limited regarding family carers’ experiences within peer support roles. METHOD: Semi-structured interviews were conducted with 10 peer mentors (four adult siblings, six parent carers) paid to support other family carers undertaking an online mindfulness intervention. Interviews were recorded and transcribed. The data were analysed using Framework Analysis. RESULTS: Peer mentors discussed their motivations, the importance of shared experiences within the mentoring relationships, increased confidence and self-belief, and learning and growing throughout the mentoring role. CONCLUSION: Peer mentors spoke positively, discussing benefits within their personal lives and future employment opportunities. Further research is needed regarding the experiences of mentors who withdrew from the role, as well as fathers, brothers and people from ethnic minority communities.
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4. Liu Y, Li S, Huang Y, Li D. Information Technology-Based Intervention on the Socio-Emotional Competence of Individuals with Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. J Intell. 2025; 13(8).
Individuals with autism spectrum disorder (ASD) have deficits in social-emotional competence. Most people with ASD have difficulties in emotion recognition, emotion understanding, emotion expression, and emotion regulation, which seriously affects their normal social communication and interaction. The information technology (IT) era has given more possibilities for intervention training for people with ASD, and research has proven that technological interventions have a significant effect on the socio-emotional competence of people with ASD. This study employed a meta-analytic approach using 32 independent effect sizes from 25 studies to investigate the effects of IT interventions on socio-emotional competence in individuals with ASD, using emotion recognition, understanding, expression, and regulation as dependent variables and examining key moderating factors. The results found that information technology has an excellent effect on social-emotional competence in ASD (Hedges’ g = 0.897, CI = 0.676, 1.117, z = 7.967, p < 0.001) and is significantly moderated by the intervention technique (Q = 7.392, p = 0.025) and the intervener (Q = 4.933, p = 0.026). The findings provide insights into further deepening information technology intervention research as well as practical applications.
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5. Roberts CT, Kadar Shahib A, Arezoumand KS, Akhtar GB, Nejati-Koshki K, Jarmasz JS, Ziaee SM, Buist M, Raabe N, Rezaeian Mehrabadi A, Olson CO, Rastegar M. Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice. Cells. 2025; 14(16).
Methyl CpG-binding protein 2 (MeCP2) is an epigenetic reader of DNA methylation with high abundance in the brain. While genetic mutations occur across different protein domains of MeCP2, the T158M mutation is amongst the most frequent MeCP2 mutations. MeCP2 is encoded by the MECP2/Mecp2 gene located on the X chromosome. In humans, MECP2 mutations cause Rett Syndrome, a debilitating neurodevelopmental disorder in females, with very rare cases presenting in males. Despite the generation of different transgenic mouse lines with MeCP2 mutations, the sex-dependent phenotypic and molecular impact of common MeCP2 mutations in mouse models of disease remains largely unexplored. Here, we focus on the MeCP2 T158M mutation using Mecp2(tm4.1Bird/)J transgenic mice (referred to as Mecp2(T158M)), and report that Mecp2(T158M) mutant mice display sex-specific molecular, behavioural, and phenotypic characteristics when compared to wild-type controls. Our data indicates sex- and brain-region-dependent impacts on the expression of MeCP2, synaptic proteins, cytoskeletal markers, and autophagy factors. Our findings demonstrate that the phenotypic and molecular characteristics of this mouse model may relate to the clinical manifestation in human patients with Rett Syndrome.
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6. Wang H, Zhang M, Yang S, Jiang Y, Wu L, Sun C. Cannabinoid Receptors CB1 and CB2 Activation Restores Hippocampal Lipid Profiles and Alleviates Autism-Like Behaviors in Valproic Acid-Induced ASD Rats. CNS Neurosci Ther. 2025; 31(8): e70591.
OBJECTIVE: Emerging evidence suggests lipid metabolism dysregulation contributes to autism spectrum disorders (ASD), with the endocannabinoid system (cannabinoid receptors CB1R/CB2R) implicated in lipid homeostasis. This study investigated whether CB1R/CB2R activation improves hippocampal lipid metabolism and ASD-like behaviors in a valproic acid (VPA)-induced ASD rat model. METHODS: Male offspring from dams exposed to VPA (600 mg/kg, i.p.) received the CB1R agonist ACPA (0.1 mg/kg) or the CB2R agonist AM1241 (3 mg/kg) from postnatal days 21-27. ASD-like behaviors (marble burying, self-grooming, social interaction, open-field tests) and hippocampal lipid profiles (UPLC-MS/MS) were analyzed. RESULTS: VPA-exposed rats displayed heightened repetitive behaviors, social deficits, and hyperactivity, all significantly alleviated by ACPA and AM1241. Lipidomics revealed marked reductions in hippocampal phosphatidylcholines, lysophosphatidylcholines, fatty acids, sphingomyelins, ceramides, and phosphatidylethanolamines in VPA rats. Both agonists restored lipid levels to near normal, comparable to controls. CONCLUSIONS: CB1R/CB2R activation ameliorates behavioral abnormalities and rectifies hippocampal lipid dysregulation in VPA-induced ASD models, highlighting cannabinoid receptors as potential therapeutic targets for ASD-associated metabolic disturbances.
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7. Xu X, Li Y, Lan H, Ding N, Li W, Zheng G, Song X. Quantitative susceptibility mapping shows alterations of brain iron content in children with autism spectrum disorder: a whole-brain analysis. BMC Psychiatry. 2025; 25(1): 826.
BACKGROUND: Iron deficiency in subcortical structures has been reported in previous studies using manually drawn regions of interest (ROIs). However, no whole-brain iron content studies in individuals with autism spectrum disorder (ASD) have been published. This study aimed to explore whole-brain iron content in ASD children using quantitative susceptibility mapping (QSM) and to examine relationships between clinical features of ASD and regional susceptibility values. METHODS: A total of 30 ASD children and 28 typically developing (TD) individuals who were matched for age and sex were prospectively recruited. Brain MRI scans were performed on each participant. Each brain region’s susceptibility value was compared between groups, and correlations with clinical manifestations were examined. RESULTS: The ASD patients showed significantly higher susceptibility values than TD children in the bilateral middle temporal gyrus, left inferior temporal gyrus, left inferior parietal gyrus, right lateral occipital gyrus, right insula, and bilateral rostral anterior cingulate gyrus. Conversely, significantly lower susceptibility was observed in the right cerebral white matter of ASD children. According to correlation analysis, susceptibility values in the left middle temporal gyrus, left inferior parietal gyrus, and right lateral occipital gyrus were negatively correlated with the Gesell Developmental Schedules (GDS) gross motor scores in the ASD group. CONCLUSIONS: ASD children had aberrant susceptibility values in cortical areas, and these abnormalities might be associated with their clinical features, which may provide new insights into understanding the pathophysiology of ASD.
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8. Zhang L, Wang JH. The utilization of non-human primates in the investigation of autism spectrum disorder. Brain Res. 2025: 149900.
Autism spectrum disorder (ASD), a prevalent neurodevelopmental condition characterized by social communication deficits and repetitive behaviors, presents significant therapeutic challenges due to its multifactorial etiology, clinical heterogeneity, and frequent comorbidities. To address these complexities, animal models have become indispensable tools for unraveling ASD pathogenesis and evaluating potential interventions. This review synthesizes recent advances across three pivotal research domains – neuroimaging biomarkers, metabolic dysregulation, and etiological mechanisms while providing a critical evaluation of animal models, including rodent and non-human primate (NHP) paradigms developed through pharmacological induction, spontaneous mutations, and CRISPR-based gene editing. Although rodent models have substantially advanced our understanding of ASD-linked genetic pathways and neural circuitry, their limited capacity to model higher-order social cognition underscores the need for evolutionarily proximate systems. Non-human primates (NHPs), with their neuroanatomical homology to humans and complex socio-cognitive behaviors, offer unparalleled advantages for recapitulating core ASD phenotypes. Current evidence demonstrates that NHP models faithfully replicate hallmark behavioral manifestations while elucidating aberrant neural network dynamics and synaptic plasticity underlying these traits. Key challenges in the field include standardizing model validation protocols, addressing sex-specific phenotypic variability, and integrating multi-omics approaches for biomarker discovery and circuit-level analysis, finally evaluating the efficiency of NHP models in therapeutic translation.