1. Alam MS, Rashid MM, Jazlan A, Alahi MEE, Kchaou M, Alharthi KAB. Robust Autism Spectrum Disorder Screening Based on Facial Images (For Disability Diagnosis): A Domain-Adaptive Deep Ensemble Approach. Diagnostics (Basel);2025 (Jun 24);15(13)

Background/Objectives: Artificial intelligence (AI) is revolutionising healthcare for people with disabilities, including those with autism spectrum disorder (ASD), in the era of advanced technology. This work explicitly addresses the challenges posed by inconsistent data from various sources by developing and evaluating a robust deep ensemble learning system for the accurate and reliable classification of autism spectrum disorder (ASD) based on facial images. Methods: We created a system that learns from two publicly accessible datasets of ASD images (Kaggle and YTUIA), each with unique demographics and image characteristics. Utilising a weighted ensemble strategy (FPPR), our innovative ASD-UANet ensemble combines the Xception and ResNet50V2 models to maximise model contributions. This methodology underwent extensive testing on a range of groups stratified by age and gender, including a critical assessment of an unseen, real-time dataset (UIFID) to determine how well it generalised to new domains. Results: The performance of the ASD-UANet ensemble was consistently better. It significantly outperformed individual transfer learning models (e.g., Xception alone on T1+T2 yielded an accuracy of 83%), achieving an impressive 96.0% accuracy and an AUC of 0.990 on the combined-domain dataset (T1+T2). Notably, the ASD-UANet ensemble demonstrated strong generalisation on the unseen real-time dataset (T3), achieving 90.6% accuracy and an AUC of 0.930. This demonstrates how well it generalises to new data distributions. Conclusions: Our findings demonstrate significant potential for widespread, equitable, and clinically beneficial ASD screening using this promising, reasonably priced, and non-invasive method. This study establishes the foundation for more precise diagnoses and greater inclusion for people with autism spectrum disorder (ASD) by integrating methods for diverse data and combining deep learning models.

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2. Anding A, Ren B, Padmashri R, Burkovetskaya M, Dunaevsky A. Activity of Human-Specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome. Int J Mol Sci;2025 (Jul 6);26(13)

Astrocytes, a subtype of glial cells, have multiple roles in regulating neuronal development and homeostasis. In addition to the typical mammalian astrocytes, in the primate cortex, interlaminar astrocytes are located in the superficial layer and project long processes traversing multiple layers of the cerebral cortex. Previously, we described a human stem cell based chimeric mouse model where interlaminar astrocytes develop. Here, we utilized this model to study the calcium signaling properties of interlaminar astrocytes. To determine how interlaminar astrocytes could contribute to neurodevelopmental disorders, we generated a chimeric mouse model for Fragile X syndrome (FXS). We report that FXS interlaminar astrocytes exhibit hyperexcitable calcium signaling and are associated with dendritic spines with increased turnover rate.

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3. Anitha A, Banerjee M, Thanseem I, Melempatt N, Prakash A, Iype M, Thomas SV. Whole Exome Sequencing Study of a Multizygotic Quadruplet Discordant for Autism Spectrum Disorder Reveals Novel Autism Candidate Genes. Neurol India;2025 (Jan 1);73(1):152-155.

Autism spectrum disorder (ASD) is a childhood-onset complex neurodevelopmental disorder. We carried out a comprehensive genetic study of a quadruplet discordant for ASD to identify the candidate genes of ASD. Whole exome sequencing (WES) was done for the quadruplet and their parents. We identified 218 proband-specific de novo single nucleotide variants (SNVs) and 100 indels, none of which were deleterious. Among these, nine SNVs and six indels are reported in autism databases. A homozygous recessive non-synonymous SNV in TRAM2, and a pair of compound heterozygous non-synonymous SNVs in DGKD, all of which were proband-specific, were predicted to be deleterious. These are novel candidate genes for ASD. Genes harboring proband-specific de novo and inherited variants were enriched in the biological processes related to synaptic transmission and neurodevelopment. This is the first genetic study of a quadruplet in ASD.

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4. Ayoub G. Autism Spectrum Disorder as a Multifactorial Disorder: The Interplay of Genetic Factors and Inflammation. Int J Mol Sci;2025 (Jul 5);26(13)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by difficulty with social communication, behavior, and sensory integration. With its prevalence rising worldwide in recent decades, understanding and mitigating the origins of ASD has become a priority. Though its etiology is multifactorial, the current research highlights two major contributors, genetic susceptibilities and environmental inflammatory exposures, leading to oxidative stress during critical developmental periods. We explore how genetic variations, including those affecting cerebral folate metabolism, and various inflammatory triggers, including exposure to inflammatory agents during both the fetal and post-fetal period, intersect to influence the development of ASD, giving rise to specific symptoms seen in autism.

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5. Bertilsdotter Rosqvist H, Pearson A, Pavlopoulou G, Bottema-Beutel K. The social model in autism research. Autism;2025 (Jul 12):13623613251357648.

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6. Boeck B, Mao Y, Huang RP, Westmark CJ. Soy Protein Isolate Affects Blood and Brain Biomarker Expression in a Mouse Model of Fragile X. Int J Mol Sci;2025 (Jun 26);26(13)

Fragile X syndrome is characterized by the diminished expression of the fragile X messenger ribonucleoprotein (FMRP), a ubiquitously expressed RNA binding protein with numerous functions in cells. Our prior work found significant differences in physiological and behavioral outcomes as a function of FMRP levels and in response to diet in mice. Here, we assess protein biomarker levels as a function of FMRP levels, sex and matched casein and soy protein isolate-based purified ingredient diets in Fmr1(KO) and littermate mice. Brain regions (cortex, hippocampus, and hypothalamus) and blood plasma were analyzed by RayBiotech’s Quantibody(®) Mouse Cytokine Antibody Array 640 to quantitate the expression of 640 proteins. The main findings were the identification of numerous proteins that were differentially expressed in response to diet, sex and/or genotype. Of note, prolactin (PRL) levels in blood plasma were significantly elevated in Fmr1(KO) female mice as a function of genotype and sex selectively with the AIN-93G/casein diet. Also, using a moderately stringent significance cutoff, growth differentiation factor 9 (GDF-9) in plasma from mice fed AIN-93G/soy was the only protein studied by Quantibody arrays that was differentially expressed between WT and Fmr1(KO) male mice. When comparing the results from a pelleted infant formula study with AIN-93G-based diets, insulin-like growth factor binding protein 5 (IGFBP5) in plasma was the only protein differentially expressed as a function of soy in the diet. There was no overlap in statistically significant results when comparing tissue analyzed by mass spectrometry versus Quantibody arrays from mice maintained on AIN-93G-based diets. In conclusion, gene-diet interactions affect protein expression in Fmr1(KO) and littermate mice and need to be considered in study design.

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7. Borbélyová V, Szabó J, Sušienková P, Potvin J, Belvončíková P, Groß T, Jančovičová A, Bačová Z, Rašková B, Szadvári I, Antal M, Pirník Z, Karhánek M, Šoltys K, Gardlík R, Celec P, Ostatníková D, Tomova A. The Effect of Parental Faecal Microbiome Transplantation from Children with Autism Spectrum Disorder on Behavior and Gastrointestinal Manifestations in the Male Offspring of Shank3 Mice. Int J Mol Sci;2025 (Jun 20);26(13)

The increasing incidence of autism spectrum disorder (ASD) increases the urgency of establishing the mechanism of its development for effective prevention and treatment. ASD’s etiology includes genetic predisposition and environmental triggers, both of which can play a role in the changed microbiota. Recent research has proved the impact of maternal microbiota on the neurodevelopment of the child. To investigate the co-play of genetic and microbiota factors in ASD development, we performed fecal microbiota transplantation (FMT) from children with ASD to female Shank3b(+/-) mice and studied the autism-like symptoms in the male Shank3b(-/-) and wild-type (WT) offspring. WT animals with prenatal exposure to ASD microbiota had delayed neurodevelopment and impaired food intake behavior, but also elevated plasma leptin concentration and body weight. Shank3b(-/-) mice after FMT ASD exhibited impaired learning and exacerbated anxiety-like behavior in adulthood. Interestingly, FMT ASD improved learning in adolescent Shank3b(-/-) mice. Prenatal exposure to ASD microbiota decreased the activity of hypocretin neurons of the lateral hypothalamic area in both genotypes. The combination of genetic predisposition and FMT ASD led to an increased colon permeability, evaluated by zonula occludens (ZO1, ZO3) and claudin factors. These results suggest the effect of parental FMT exposure on shaping offspring behavior in Shank3b(-/-) mice and the potential of microbiota in the modulation of ASD.

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8. Esparza Loredo SB, García De la Torre GS, Villanueva Vilchis MDC, Aranda Romo S, Aguilar Díaz FDC. Caregivers’ Knowledge, Attitudes, and Practices in terms of Oral Care Provided to Children with Autism Spectrum Disorder. Healthcare (Basel);2025 (Jun 30);13(13)

Background/Objectives: Children with Autism Spectrum Disorder (ASD) often exhibit similar food-related behaviors, such as excessive sugar consumption, and sensory processing difficulties, which can hinder oral hygiene routines like toothbrushing and increase the risk of cavities or gum problems. Therefore, caregiver involvement in maintaining oral health is crucial. The aim of this study was to assess the knowledge, attitudes, and practices reported by caregivers in terms of oral care provided to children diagnosed with ASD between the ages of 5 and 12 years. Methods: A cross-sectional study was conducted, and the participants comprised 72 caregivers of children with ASD enrolled in four therapeutic centers in SLP, Mexico. Data on caregivers’ knowledge, attitudes, and care in terms of oral health, as well as sociodemographic characteristics, were collected through a structured and self-administered questionnaire. Results: Among the caregivers, 85% were women, and 86% recognized sugar as a cariogenic and gingival bleeding as a sign of inflammation. Despite this, over 60% reported frequent sugar consumption, 65.4% supervised toothbrushing, and floss use was minimal. More than half showed high self-efficacy, which correlated with more frequent supervised or autonomous toothbrushing. Caregivers involved in homecare brushed their children’s teeth more often. Correct knowledge of brushing frequency was associated with actual toothbrushing practices (p < 0.05). Conclusions: This study highlights a notable gap between caregivers' knowledge and oral care practices in terms of children with ASD.

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9. Guevara-Ramírez P, Tamayo-Trujillo R, Ruiz-Pozo VA, Cadena-Ullauri S, Paz-Cruz E, Zambrano AK. Mechanistic Links Between Gut Dysbiosis, Insulin Resistance, and Autism Spectrum Disorder. Int J Mol Sci;2025 (Jul 7);26(13)

Autism spectrum disorder (ASD) is a neurodevelopmental condition frequently associated with gastrointestinal symptoms, gut dysbiosis, and metabolic dysfunctions such as insulin resistance (IR). Recent evidence suggests that the gut microbiota may influence both metabolic and neurological processes through the gut-brain-metabolic axis. This review explores the molecular mechanisms linking dysbiosis, IR, and ASD, focusing on pathways such as TLR/NF-κB activation, PI3K/Akt/mTOR disruption, and the action of microbial metabolites, like short-chain fatty acids (SCFAs), lipopolysaccharide (LPS), and γ-aminobutyric acid (GABA). We discuss how dysbiosis may contribute to increased intestinal permeability, systemic inflammation, and neuroimmune activation, ultimately affecting brain development and behavior. Common microbial alterations in ASD and IR-including increased Clostridium, Desulfovibrio, and Alistipes, and reduced Bifidobacterium and butyrate-producing genera-suggest a shared pathophysiology. We also highlight potential therapeutic strategies, such as microbiota modulation, insulin-like growth factor 1 (IGF-1) treatment, and dietary interventions. Understanding these interconnected mechanisms may support the development of microbiota-targeted approaches for individuals with ASD metabolic comorbidities.

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10. Hidema S, Nishimori K, Otsuka A, Horiai M, Mizuno K, Ono T, Maejima Y, Shimomura K. Kamikihito ameliorates social recognition in oxytocin gene deficient mice and environmentally induced autism spectrum disorder model mice. J Ethnopharmacol;2025 (Jul 10):120263.

ETHNOPHARMACOLOGICAL RELEVANCE: Kamikihito (KKT) is a traditional Japanese medicine used to treat insomnia, anemia, anxiety and neurosis. Its scientific mechanism of action is not well understood. AIM OF THE STUDY: This study aimed to evaluate the therapeutic effect of KKT on deficits in social recognition ability, a phenotype of autism spectrum disorder (ASD), and to investigate the involvement of oxytocin in its action. MATERIALS AND METHODS: KKT was orally administered to wild-type (WT), Oxytocin knockout (Oxt (-/-)), and Oxt receptor knockout (Oxtr (-/-)) mice, and social recognition ability was assessed using a three-chamber test. Neuronal activation changes in the brain after social stimulation were evaluated using c-Fos immunostaining in WT, Oxt (-/-), and Oxt (-/-) mice treated with KKT. Additionally, we examined whether KKT ameliorates social recognition impairment in LPS-induced ASD model mice (LPS mice), where LPS serves as an environmental factor. RESULTS: Abnormal social recognition behavior was improved in the Oxt (-/-) mice after sustained KKT administration, but not in the Oxtr (-/-) mice. c-Fos immunostaining revealed excessive neural activation of the Oxt (-/-) mice following social stimulation, which was reduced to WT levels after KKT administration. Social recognition impairment in the LPS mice was improved by KKT. CONCLUSION: Our results suggest that KKT may improve social recognition by acting through Oxtr and by suppressing excessive neural activation after social stimulation. These effects may represent part of KKT’s mechanism of action. It is possible for KKT to become a commonly used treatment for ASD-like symptoms.

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11. Leyhausen J, Gurr C, Berg LM, Seelemeyer H, Hermila B, Schäfer T, Chiocchetti AG, Pretzsch CM, Loth E, Oakley B, Buitelaar JK, Beckmann CF, Charman T, Bourgeron T, Barthome E, Banaschewski T, Jones EJ, Murphy D, Ecker C. Parsing Autism Heterogeneity: Transcriptomic Subgrouping of Imaging-Derived Phenotypes in Autism. Biol Psychiatry Cogn Neurosci Neuroimaging;2025 (Jul 10)

BACKGROUND: Neurodevelopmental conditions, such as autism, are highly heterogeneous both at the mechanistic and phenotypic level. Parsing heterogeneity is therefore vital for uncovering underlying processes that could inform the development of targeted, personalized support. The study aimed to parse heterogeneity in autism by identifying subgroups that converge at both phenotypic and molecular levels. METHODS: An imaging-transcriptomics approach was used to link neuroanatomical imaging-derived phenotypes in autism to whole-brain gene expression signatures provided by the Allen Human Brain Atlas. Neuroimaging and clinical data of N=359 autistic participants aged 6-30 years were provided by the EU-AIMS Longitudinal European Autism Project. Individuals were stratified using data-driven clustering techniques based on the correlation between brain phenotypes and transcriptomic profiles. The resulting subgroups were characterized on the clinical, neuroanatomical, and molecular level. RESULTS: We identified three subgroups of autistic individuals based on the correlation between imaging-derived phenotypes and transcriptomic profiles which showed different clinical phenotypes. The individuals with the strongest transcriptomic associations to imaging-derived phenotypes showed the lowest level of symptom severity. The genesets most characteristic for each subgroup were significantly enriched for genes previously implicated in autism etiology, including processes like synaptic transmission and neuronal communication, and mapped onto different gene ontology categories. CONCLUSION: Autistic individuals can be sub-grouped based on the transcriptomic signatures associated with their neuroanatomical fingerprints, revealing subgroups that show differences in clinical measures. The study presents an analytical framework for linking neurodevelopmental and clinical diversity in autism to underlying molecular mechanisms, thus highlighting the need for personalized support strategies.

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12. Liber A, Więch M. The Impact of Fecal Microbiota Transplantation on Gastrointestinal and Behavioral Symptoms in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review. Nutrients;2025 (Jul 7);17(13)

Background: Gastrointestinal (GI) symptoms, often reported by individuals with autism spectrum disorders (ASD), may impair functionality and exacerbate behavioral symptoms. Gut dysbiosis has been identified as a potential environmental factor influencing these symptoms through gut-brain axis dysregulation. Fecal microbiota transplantation (FMT) is a promising therapeutic strategy with potential to alleviate symptoms. This review systematically evaluates the efficacy and safety of FMT in GI and ASD-related symptoms. Methods: This systematic review followed PRISMA 2020 guidelines and was registered in PROSPERO. The review included clinical trials on FMT in children and adolescents with ASD, published up to October 2024. The bias assessments were performed using Cochrane tools. Outcomes focused on changes in GI and ASD-related symptoms using scales selected by the authors. Results: This systematic review included two RCTs and seven before-and-after studies. Improvements in GI and ASD-related outcomes were reported in all before-and-after studies, whereas the results of RCTs were inconsistent. The before-and-after studies showed a high risk of bias, while the RCTs demonstrated a low risk. Conclusions: Although many studies have been conducted, the methodological limitations of some and contradictory findings of others make it difficult to draw clear conclusions about the effectiveness of FMT in children with ASD. Variations in intervention protocols underscore the importance of establishing standardized FMT procedures in future rigorously designed trials.

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13. Man LLY, Lacroix A, Lai MC. Autistic patients. Cmaj;2025 (Jul 13);197(25):E722-e723.

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14. Méndez D, Uriarte N, Espino M, Ramos M, Lecumberry F, Nogueira J. Prenatal valproate exposure alters barrel cortex morphology in rats. Neurosci Lett;2025 (Jul 13);859-861:138277.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition influenced by genetic and environmental factors. Prenatal exposure to valproic acid (VPA) has been linked to morphological and behavioral abnormalities resembling ASD symptoms in humans. The whisker somatosensory system in rodents serves as an optimal model for studying ASD-related sensory alterations due to its well-defined modular and somatotopic organization. In this study, we analyzed whisker cortical maps in VPA-exposed rats using cytochrome oxidase histochemistry. Our results revealed significant alterations in the primary somatosensory cortex, including a reduction in total whisker map area and poorly defined cortical barrels. Additionally, some adjacent barrels exhibited fusion, and barrel row curvature was significantly reduced, suggesting disrupted somatotopic organization. These findings align with previous studies in genetic ASD models, such as Mecp2-knockout mice, which show reduced thalamocortical connectivity and structural changes in layer IV neurons. Moreover, recent research suggests that sensory deficits in ASD may also involve dysfunctions in the peripheral nervous system. Our study highlights the relevance of somatosensory cortical map alterations in environmentally induced ASD models. Further investigations into both central and peripheral nervous system contributions could provide valuable insights into the sensory deficits underlying ASD.

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15. Mori Y, Suzuki Y, Miura I. Long-acting injectable paliperidone palmitate for severe anorexia nervosa and comorbid autism spectrum disorder: A case report. PCN Rep;2025 (Sep);4(3):e70161.

BACKGROUND: Anorexia nervosa (AN), comorbid with autism spectrum disorder (ASD), poses significant treatment challenges due to cognitive rigidity, poor insight, and frequent nonadherence to pharmacological interventions. Although second-generation antipsychotics (SGAs) have been used off-label in AN, evidence for long-acting injectable (LAI) formulations remains scarce, particularly in adult patients with neurodevelopmental disorders. CASE PRESENTATION: We report the case of a 27-year-old woman with severe AN and comorbid ASD who exhibited repeated hospitalizations due to critical underweight and persistent refusal of oral medications. Cognitive assessment revealed mild intellectual disability (IQ 56). The patient demonstrated obsessive-compulsive traits and extreme rigidity toward food intake, and was resistant to multiple oral antipsychotics. While risperidone was tolerated, poor adherence limited its efficacy. After obtaining informed consent, LAI paliperidone palmitate was initiated (initial dose 25 mg, increased to 50 mg monthly). Following a short period of psychoeducation and lifestyle intervention, the patient maintained psychiatric and nutritional stability over a 3-year outpatient follow-up without rehospitalization. Her body mass index stabilized at approximately 24 kg/m(2). No severe adverse effects were reported. CONCLUSION: This case highlights the potential role of LAI paliperidone palmitate in managing treatment-refractory AN with comorbid ASD and intellectual disability, particularly in patients with poor adherence and prominent obsessive traits. Although antipsychotics are not standard for AN, LAI formulations may offer pragmatic, sustainable benefits in selected cases. Further studies are warranted to assess long-term safety and efficacy in this population.

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16. Poletti M, Preti A, Raballo A. Debate: Are we over-pathologizing young people’s mental health? The inflationary risk of autism diagnosis. Child Adolesc Ment Health;2025 (Jul 11)

The concept of autism has undergone a significant transformation in recent decades, evolving from a narrowly defined, rare disorder into a broad and heterogeneous spectrum. This diagnostic expansion, while intended to improve recognition of diverse presentations, has led to a marked increase in prevalence and a dilution of autism’s neurobiological distinctiveness. Two emerging trends may further contribute to this phenomenon: the rise in adult diagnoses without documented childhood traits, and the growing attribution of transdiagnostic social difficulties to subthreshold autistic traits. These trends risk conflating autism with general social dysfunction and undermining the validity of related clinical constructs. The diagnostic inflation of ASD may reflect a problematic overextension of criteria, compounded by the use of unstructured assessments and amplified by the growing influence of neurodiversity discourse. Moreover, it is facilitated by the absence of definitive neurobiological markers and remains at odds with autism’s characterization as a neurodevelopmental condition with strong genetic roots. Whether this expansive reconceptualization constitutes progress or regression warrants deeper scientific debate.

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17. Shaban AM, Ameen O, Omar M, El Derbaly SA, Omara HR, Bayomi AI, Latif AAA, Elakabawy ZI, Khodir SA. Treadmill training protects valproic acid-induced autistic features via cerebellar AMPK/PPAR-γ dependent pathway and improves mitochondrial activity in mice. Sci Rep;2025 (Jul 12);15(1):25248.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with impaired sociality and stereotypic behavior. Endurance training could modulate mitochondrial dysfunction sharing in the pathophysiology of ASD. We investigated the neuroprotective effects of training on VPA-induced ASD in mice. Forty mice were divided into control, Training, VPA, and VPA + Training groups. Mice were subjected to neurobehavioral tests. Assessment of the protein content of serum CRP, irisin, meteorin-like protein (metrnl), cerebellar inflammatory markers, serotonin, and BDNF was done by ELISA. MDA and catalase were also investigated using a colorimetric technique. Cerebellar citrate synthase (CS) enzyme activity was also measured. Cerebellar AMPK, PPAR-ɣ, and metrnl gene expressions were assessed via RT-PCR. Cerebellar immunohistochemical studies of GFAP, Bax, and PPAR-γ markers were conducted. Statistical methods were used in the data analysis, including one-way ANOVA, and t-tests. The VPA group showed significant impairments in social interaction, and cognition in neurobehavioral tests (P = 0.000). A significant increase of CRP, MDA, and inflammatory markers associated with a significant reduction in irisin, metrnl, catalase, CS, serotonin, and BDNF (P = 0.000) was noticed. Besides, cerebellar AMPK and PPAR-γ gene expressions were down-regulated. Significant cerebellar degenerative changes were also observed (P = 0.000). Training dramatically reversed VPA-induced neurobehavioral, biochemical, and cerebellar degenerative changes. Endurance training has anti-inflammatory, anti-apoptotic, and antioxidant properties. Adipo-myokines release, enhanced mitochondrial activity, and activation of AMPK and PPAR-γ pathways could be involved mechanisms. Training programs are a promising strategy for addressing the social and neurobehavioral impairments linked to ASD, according to the muscle-brain interplay.

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18. Thompson S, Bird T, Tzannes G, Ellaway C. Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years’ Experience From an Australian Multidisciplinary Management Clinic. J Paediatr Child Health;2025 (Jul 13)

AIM: This study reviewed the nutritional status, feeding skills, safety, and management of patients with Rett syndrome during childhood and adolescence. METHOD: Retrospective chart review of 103 females with classical Rett syndrome, aged ≤ 18 years, attending a Rett syndrome Multidisciplinary Management clinic in a tertiary hospital from 2000 to 2019. RESULTS: Over multiple clinic visits the cohort was significantly (p < 0.0001) shorter and of lower weight (p < 0.0001) on standard CDC growth charts but not on Rett syndrome specific growth charts. Body mass index Z score was not significantly different on either chart but at first visit both mean and median were <0 (range -5.39 to +3.44) (p = 0.002) on standard charts. Nutritional issues included inadequate energy, fibre, calcium and iron intake. Participants tolerated food textures ranging from puree to regular diet, and fluids ranging from unmodified to modified. Compensatory strategies for drinking, chewing and swallowing difficulties were frequent. Six percent had a documented episode of aspiration pneumonia. Twenty-four percent had gastrostomy placement with 64% of these continuing oral intake or tastes at last visit. CONCLUSIONS: Growth and weight gain in this cohort of females with Rett syndrome supports the pattern observed in other Rett syndrome cohorts. Given the risk of inadequate nutrition, and that optimal nutritional status is undefined in Rett syndrome, there is a need for individualised ongoing clinical assessment of nutritional status and feeding, with a multidisciplinary approach. Oropharyngeal dysphagia and compensatory feeding strategies were common, with feeding safety requiring close monitoring. The burden of assisted feeding was high.

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19. Wechsler DL, Jones EJH, Pasco G, Bazelmans T, Begum-Ali J, Johnson MH, Charman T. Parent-child similarity on autism and ADHD traits and children’s social functioning and psychological well-being at 3 years. J Child Psychol Psychiatry;2025 (Jul 11)

BACKGROUND: There is a pressing need for research on neurodevelopmental conditions to focus on predictors of resilient or positive outcomes, rather than core symptoms and impairment. One promising avenue is to consider whether child-parent similarity contributes to a protective family environment. For instance, investigations of the similarity-fit hypothesis have shown that parent-child attention-deficit/hyperactivity disorder (ADHD) trait similarity is associated with more favourable parent or child ratings of parenting and parent-child interaction. However, very little similarity-fit research has focused on autism, and none to date has investigated whether parent-child trait similarity is more broadly predictive of children’s outcomes beyond parent-child interaction. We assessed whether parent-child autism and ADHD trait similarity predicted children’s social functioning and psychological well-being in early childhood in a family history cohort. METHODS: Our analytic sample comprised 222 children (45.5% female) and their parents from a longitudinal family history (autism and/or ADHD) cohort. A novel parent-child trait similarity measure was computed for autism and ADHD traits in each parent-child pair, and robust hierarchical regression was used to assess whether mother-child and father-child autism and ADHD similarity predicted children’s social functioning and psychological well-being at age 3 years, after accounting for the main effects of parent and child traits. RESULTS: Mother-child autism trait similarity positively predicted both social functioning and psychological well-being in children, while mother-child ADHD trait similarity positively predicted children’s social functioning (but not well-being). Furthermore, father-child autism trait similarity positively predicted children’s social functioning, though it fell just short of statistical significance in outlier-robust regression. CONCLUSIONS: Our findings suggest that parent-child neurodevelopmental trait similarity may act as a protective or promotive factor for children’s early social functioning and psychological well-being. Further work is warranted to determine whether there are similar effects in later childhood and to investigate the potential mechanisms underlying similarity-fit effects on children’s outcomes.

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20. Zhang Y, Zhao X, Gao C, Shi S, Chen M, Guo B, Hu S, Mei D, Duan X, Wang X. Deficiency of calretinin in prefrontal cortex causes behavioral deficits relevant to autism spectrum disorder in mice. Mol Brain;2025 (Jul 12);18(1):61.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core symptoms including deficits in social interaction, repetitive and stereotyped behaviors, along with higher levels of anxiety and cognitive impairments. Previous studies demonstrate pronounced reduced density of calretinin (CR)-expressing GABAergic interneurons in both ASD patients and animal models. The object of the current study was to determine the role of CR in ASD-relevant behavioral aberrations. Herein, the mRNA and protein levels of CR in the prefrontal cortex (PFC) of mouse model of ASD based on prenatal exposure to valproic acid (VPA) were determined by qRT-PCR and Western blot analysis, respectively. Moreover, the behavioral abnormalities in naive mice with CR deficiency mediated by recombinant adeno-associated virus (rAAV) were evaluated in a comprehensive testing battery including social interaction, marble burying, self-grooming, open-field, elevated plus maze and novel object recognition tests. Furthermore, the action potential changes caused by CR deficiency were examined in neurons within the PFC in naive mouse. The results show that the mRNA and protein levels of PFC CR of VPA-induced mouse ASD model were reduced. Concomitantly, mice with CR knockdown displayed ASD-like behavioral aberrations, such as social impairments, elevated stereotypes, anxiety and memory defects. Intriguingly, patch-clamp recordings revealed that CR knockdown provoked decreased neuronal excitability by increasing action potential discharge frequencies together with decreased action potential threshold and rheobase. Our findings support a notion that CR knockdown might contribute to ASD-like phenotypes, with the pathogenesis most likely stemming from increased neuronal excitability.

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