Pubmed du 16/10/25
1. Baker K, Thomaidou MA, Berryessa CM, Cantone JA. Autistic juvenile defendants: How defendant race and offense type affect juror decisions. Law Hum Behav;2025 (Oct 16)
OBJECTIVE: This study explores whether providing information about a juvenile defendant’s autism spectrum disorder (ASD) diagnosis, the type of offense (violent/nonviolent), and their race influences laypersons’ credibility evaluations and legal decisions (verdicts/sentencing). HYPOTHESES: We expected participants to render more not guilty verdicts and show leniency in sentencing when the defendant is White, has an ASD diagnosis, and is charged with a nonviolent offense. We anticipated credibility evaluations would mediate the relationships between ASD diagnosis and race, type of offense and sentencing views. METHOD: Using a mock-juror paradigm, 466 participants read a vignette in which the juvenile defendant’s diagnosis (ASD + information vs. no diagnosis), race (White vs. Black), and the charged offense (violent vs. nonviolent) were experimentally manipulated. RESULTS: Participants were highly unlikely to render guilty verdicts (p < .001, OR = 0.33) and harsh sentences (p < .001, η(p)² = .11) when the defendant had an ASD diagnosis, even less so for violent offenses (p = .005, η(p)² = .02). The defendant's likability (p < .001, η(p)² = .04), honesty (p < .001, η(p)² = .11), and believability (p < .001, η(p)² = .09) were rated higher when the defendant had an ASD diagnosis, and these considerations led to significantly more lenient sentences compared to the no diagnosis condition. Participants were also twice as likely to find the White defendant guilty (p = .003, OR = 1.95) and reported being significantly more certain in their verdicts for the White defendant (p = .017, η(p)² = .02). CONCLUSIONS: These results highlight the complex interplay between defendant characteristics and public perceptions of ASD in criminal legal proceedings. Findings highlight the need for judicial education, clearer guidelines on presenting ASD information in court, and further research on how race and neurodevelopmental diagnoses influence legal decisions. (PsycInfo Database Record (c) 2025 APA, all rights reserved).
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2. Cao-Lei L, Elgbeili G, Laplante DP, Szyf M, King S. DNA Methylation Mediates the Association Between Prenatal Maternal Stress and the Broad Autism Phenotype in Human Adolescents: Project Ice Storm. Int J Mol Sci;2025 (Sep 27);26(19)
Prenatal maternal stress (PNMS) predicts risk for autism spectrum disorders (ASD), although the mechanisms are unknown. Because ASD and autistic-like traits have been associated with both prenatal stress and DNA methylation differences, it is important to examine whether epigenetic mechanisms mediate the pathway from PNMS to later autistic-like outcomes. This study aimed to determine the extent to which DNA methylation mediates the association between PNMS from a natural disaster and autistic-like traits in offspring assessed during adolescence. Five months following the 1998 ice storm in Quebec, we recruited women who had been pregnant during the crisis and assessed their PNMS: objective hardship, subjective distress, and cognitive appraisal. At age 13, their children provided blood samples for DNA. At ages 15, 16 and 19, the youth self-reported their own autistic-like traits using the Broad Autism Phenotype Questionnaire. This longitudinal design allowed us to track the developmental pathway from prenatal exposure, through adolescent DNA methylation, to later behavioral outcomes. Analyses included youth with data on PNMS, DNA methylation, and the BAPQ (n = 27 at age 15; 22 at age 16; and 13 at age 19). Results showed that mothers’ disaster-related objective hardship and their negative cognitive appraisal of the disaster were associated with DNA methylation at age 13, which then were associated with the severity of their children’s Aloof Personality and Pragmatic Language Deficits, but not Rigid Personality, at ages 15, 16 and 19. Mediation was significant particularly through genes within the PI3K/AKT/mTOR pathway, which has been implicated in various neurodevelopmental disorders, including ASD. Interestingly, while greater PNMS predicted more severe ASD traits, the epigenetics effects were for less severe traits. Although other interpretations are possible, these results could suggest that DNA methylation, assessed in early adolescence, may protect against ASD traits at later ages, particularly when there is a mismatch between the prenatal environment (disaster) and the postnatal environment (absence of disaster). The interpretation of these findings benefits from the longitudinal design and is discussed in the context of fetal programming and the predictive adaptive response.
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3. Chen H, Li M, Yao P, Nie Z, Xu L, Zhang Y, Xu X, Shen C, Huang J, Liu Y, Li Z, Wen J, Zhao L, Cao X. Observed improvements in immune parameters and behavioral symptoms following low-dose IL-2 treatment in four autistic children with immune dysfunction. BMC Psychiatry;2025 (Oct 15);25(1):991.
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition for which there are no definitive medications targeting core symptoms. Growing evidence indicates that individuals with ASD exhibit immune dysfunction and evidence of peripheral and central inflammation. Immunotherapy interventions have shown promise in addressing this dysregulation. Notably, low-dose Interleukin-2 (Ld IL-2), an established treatment for certain autoimmune diseases, represents a potential therapeutic approach. Our study aims to investigate the association between Ld IL-2-induced immune modulation and behavioral improvements in children with ASD. This research may offer novel insights into potential treatment strategies for ASD. CASE PRESENTATION: In our previously completed single-arm, self-controlled clinical study (data unpublished), 24 ASD children with immune abnormalities received Ld IL-2 treatment, all of whom showed varying degrees of symptom improvement. This paper presents case reports of four ASD children who demonstrated marked clinical improvement and substantial correction of immune imbalance following treatment. The average age of 4 participants was approximately 6 years old, comprising two boys and two girls. Assessments using the Childhood Autism Rating Scale(CARS), Aberrant Behavior Checklist (ABC), Autism Treatment Evaluation Checklist (ATEC), Krug’s Autism Behavior Scale (CABS), Hospital Anxiety and Depression Scale (HADS), and Caregiver Strain Questionnaire (CGSQ)revealed substantial behavioral improvements and no adverse events. Improvements persisted for three months post-treatment, with notable progress in Speech/Language/Communication and body/health/behavior domains. According to caregivers, there has been a observed improvement in the subjects’ sleep quality, accompanied by a gradual restoration of overall physical health. Immune testing in the four pediatric patients revealed a marked decrease in both the proportion of Type 1 cytotoxic T cells (Tc1) and the Tc1/Regulatory T cell ratio. CONCLUSIONS: Our findings in these four cases describe an association between Ld IL-2 treatment and observed improvements in ASD symptoms, potentially linked to immune modulation.
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4. Cleper R, Kapra O, Goldental N, Gross R. The association between autism spectrum disorder and congenital malformations: a population-based nested case-control study. Mol Psychiatry;2025 (Oct 15)
We examined whether specific congenital malformations (CM) detected at birth are associated with increased likelihood of autism spectrum disorder (ASD), by a case-control study nested within a 12-year birth cohort derived from the Israel National Birth Registry. The cohort included all registered ASD cases (n = 2099) and 1:1 age- and sex- matched controls. Overall, CM were more prevalent in the ASD group as compared with controls [odds ratio (OR) 1.75, 95% confidence interval (CI) 1.29-2.38]. This association remained robust after adjusting for birth weight, parental age, parental ethnicity, and maternal immigration [adjusted OR (aOR) 1.61, 95% CI 1.14-2.29]. The most prevalent CM types among the ASD group were circulatory system (2.1 vs. 1.2% among controls) and urogenital organs (1.8 vs. 0.8%). The association between ASD and genital CM was limited to males and persisted in the adjusted models (aOR 2.24, 95% CI 1.16-4.34). In the stratified by sex analysis, a strong association between all non-genitourinary CM and ASD was found in females (aOR 3.47, 95% CI 1.13-10.65). In conclusion, CM, most notably genitourinary in males exclusively, and others (mostly circulatory) in females, are more prevalent in newborns later diagnosed with ASD, as compared with age- and sex-matched controls. These sex-specific CM might represent useful pre- and postnatal markers of ASD, and their presence in newborns at-risk of ASD might indicate earlier and more frequent neurodevelopmental assessments. Our findings might also guide future research of plausible genetic, epigenetic, and prenatal underpinnings of ASD.
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5. Dawson J, Martinez-Cedillo AP, Forby L, Karstadt B, Kingstone A, Foulsham T. EXPRESS: Social attention through a new lens: Autistic and ADHD traits and eye occlusion affect gaze during conversation watching. Q J Exp Psychol (Hove);2025 (Oct 16):17470218251390498.
When people watch a pre-recorded conversation, they tend to follow the speaker and spend most of the time looking at the faces and eyes of those talking. To test whether these responses reflect realistic social attention, we eye tracked participants in two experiments where the depicted speakers sometimes wore sunglasses which removed fine-grained information from the eye region. We also examined clinically relevant traits which have been shown to have an effect on social attention, by including individuals with high- and low- traits of autism (Experiment 1) and Attention Deficit Hyperactivity Disorder (ADHD; Experiment 2). Those with high levels of autistic traits were less likely to look at key facial features. ADHD symptoms did not have the same effect. When there was a change in speaker, sunglasses disrupted attention such that there were fewer and later looks to the new speaker. Being able to read gaze cues therefore facilitates attention in conversation, and subtle differences in this behaviour may be associated with clinically-relevant traits.
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6. Edwards C, Love AMA, Cai RY, Constable PA, Love DC, Parmar K, Gowen E, Gibbs V. Autism in eye care: A mixed-methods study of professional knowledge, confidence and clinical experience. Ophthalmic Physiol Opt;2025 (Oct 16)
PURPOSE: Autistic people face significant barriers when accessing healthcare, which contribute to health disparities and unmet needs. While emerging research has described the experiences of autistic individuals accessing eye care, little is known about the perspectives of eye care professionals. This study aimed to examine autism-related knowledge, self-efficacy and attitudes among a sample of eye care professionals, and to explore their clinical experiences, perceived challenges and support needs when providing care to autistic patients. METHODS: A mixed-methods design was used, combining quantitative survey data and qualitative content analysis. A total of 198 eye care professionals (optometrists, n = 107; ophthalmologists, n = 52) predominantly from Australia (n = 84), the USA (n = 79) and the United Kingdom (n = 20) completed an online survey. Regression analyses examined whether professional role, country, age, experience, personal connection to autism and frequency of contact predicted autism knowledge, self-efficacy and disability attitudes. Correlations explored relationships among these three variables. Open-ended responses were analysed using conventional content analysis. RESULTS: Participants reported moderately high levels of self-efficacy, autism knowledge and positive disability attitudes, yet only 14% perceived they had received formal autism-specific training. Frequent clinical contact with autistic individuals was the strongest predictor of higher self-efficacy (p < 0.001). Qualitative analysis identified common challenges (e.g., sensory sensitivities, time constraints and communication barriers) and practical strategies (e.g., flexible testing, sensory accommodations and clear communication). Participants expressed a strong desire for further training and system-level supports to provide more accessible, person-centred care. CONCLUSIONS: Eye care professionals in this sample appeared motivated to support autistic patients, but often perceived a lack of structured training and identified systemic constraints that limited their capacity to provide accessible services. Practical, autism-informed resources, developed in collaboration with autistic people, alongside changes in clinical policy and workflow, may help address these challenges.
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7. Feng Y, Zhao W, Li Y, Yin Q, Wang X, Huang X, Li L, Shan X, Hu W, Ming Y, Wang P, Xiao J, Chen H, Duan X. Diffusion trajectory of atypical morphological development in autism spectrum disorder. Commun Biol;2025 (Oct 16);8(1):1476.
Brain development from childhood through adolescence is crucial for understanding autism spectrum disorder (ASD). Yet how functional networks regulate developmental changes in brain morphology remains unclear. Here, we analyzed gray matter volume (GMV) and functional connectivity (FC) in 301 individuals with ASD and 375 typically developing controls (TDCs), aged 8-18 years, from the Autism Brain Imaging Data Exchange (ABIDE). Using a sliding-window approach, participants were stratified by age, and GMV distribution deviations (DEV) were quantified with Kullback-Leibler divergence and expected value analysis. Network diffusion modeling (NDM) was applied to predict developmental alterations and evaluate how functional networks constrain atypical neurodevelopment. Results revealed a developmental shift in GMV divergence: during early adolescence, ASD participants showed positive GMV deviations relative to TDCs, which shifted to negative in late adolescence. The largest DEV were observed in the superior temporal sulcus, cingulate gyrus, insula, and superior parietal lobule. Furthermore, NDM demonstrated cross-stage predictability, as DEV values of atypical brain regions at preceding age stages significantly predicting subsequent ones, constrained by network architecture. These findings highlight a dynamic developmental shift from GMV overgrowth to delayed maturation during adolescence in ASD and revealing the role of intrinsic functional networks in constraining atypical anatomical development.
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8. Gangan N, Rosenthal M, Arabshomali A, Holmes E, Banahan BF, Shah R, Bentley JP. Does the relationship between stress and quality of life differ among informal caregivers of older adults with Alzheimer’s disease and children with autism spectrum disorder? Results from a cross-sectional survey. J Patient Rep Outcomes;2025 (Oct 16);9(1):121.
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9. Gies LM, Lynch JD, Hartley N, Justice N, Stone-Heaberlin M. Bridging Parenting Stress and Child Progress: Evaluating a Parent-Mediated Early Intervention for Autism. J Clin Psychol Med Settings;2025 (Oct 16)
INTRODUCTION: Parents of children newly diagnosed with autism report higher parenting stress levels than parents of typically developing children. Parent-mediated interventions include parents as interventionists in their child’s intervention but often require increased parent effort and time to engage in the intervention. We investigated the influence of a parent-mediated early intervention for autistic children, the Bridge Skill Development Program, on parenting stress and child outcomes. METHODS: Thirty-eight families of autistic children completed the Parenting Stress Index-4th Edition-Short Form (PSI-4-SF) at pre- and post-intervention. We used paired-samples t tests and linear regressions to examine the effects on intervention outcomes and parenting stress on program outcomes. RESULTS: Controlling for mastered pre-intervention skills, children demonstrated significant improvements in core skills from pre- to post-intervention (t(37) = 6.81, p < .001). Parents reported significant pre- to post-intervention reduction in parental distress (t(37) = - 2.53, p = .008), parent-child dysfunction (t(37) = - 4.03, p < .001), parents' perception of their child's difficult behavior (t(37) = - 1.94, p = .03), and overall parenting stress (t(37) = - 3.34, p < .001). DISCUSSION: Results suggest that families benefitted from this parent-mediated intervention, regardless of pre-intervention parenting stress levels, and intervention participation increased child skill development without increasing parenting stress.
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10. Griffin JW, Willis HC, Dommer K, Naples A, Dawson G, Jeste S, Faja S, Bernier R, Kleinhans N, Levin A, Hellemann G, Senturk D, Dziura J, Sugar C, Webb SJ, McPartland JC, Shic F. Reduced social prioritization: An underlying mechanism driving slower latency to look at faces in autism. J Psychopathol Clin Sci;2025 (Oct 16)
Slower looking to faces is a common behavioral feature of autism central to sociocognitve development. However, the underlying mechanism explaining this phenomenon remains unclear. We investigated whether deprioritization of social information or prolonged prioritization of nonsocial information better accounted for slower latency to look at faces in a large sample of autistic (n = 269) and neurotypical (NT; n = 118) children. Participants completed an eye tracking (ET) assay in which they viewed arrays of social and nonsocial stimuli. To determine why autistic children were slower to look at faces, we computed two ET metrics that reflected either deprioritization of social information or prolonged prioritization of nonsocial information. Deprioritization of social information was operationalized by face look number (FLN), which was defined as the numerical look sequence position of the first face look. Prolonged prioritization of nonsocial information was operationalized by time per object prior, which was defined as the average looking time per nonsocial object prior to the first face look. We found that autistic children were slower to look at faces compared to NT children and had higher FLN but not time per object prior compared to NT children. FLN was associated with measures of the autism phenotype. In summary, this work suggests deprioritization of social information better explains slower latency to look at faces in autistic children than prolonged prioritization of nonsocial information, with the reduced prioritization of faces contributing to difficulties in dynamic social interaction commonly observed in autism. (PsycInfo Database Record (c) 2025 APA, all rights reserved).
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11. Hertzog A, Tolun AA, Wykes AD, Brown D, Breit SN, Ellaway C, Ho G, Gold W. Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome. Sci Rep;2025 (Oct 15);15(1):36017.
Rett syndrome (RTT, OMIM #312750) is a severe genetic, neurodevelopmental disorder, primarily affecting females, that occurs due to pathogenic variants in MECP2. Clinical features include loss of acquired developmental milestones, such as purposeful hand movements and communicative abilities and the onset of stereotypic hand movements. Mitochondrial dysfunction/impairment, and inflammation have been reported in individuals with RTT. Despite numerous clinical trials and medications thought to be disease-modifying, treatment often remains purely symptomatic. A significant impediment in determining treatment efficacy has been the lack of clinical biomarkers that correlate with disease state. Mitokines, such as fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), have been established as biomarkers of cellular stress and mitochondrial dysfunction that may be of clinical utility for patients with RTT. We aimed to determine the suitability of these mitokines as biomarkers for RTT where we analysed their expression levels in blood samples from individuals with RTT as well as fromthe Mecp2(T158A) mouse model . Our data showed higher FGF21 and GDF15 levels in female Mecp2-deficient mice compared to their wild type littermates. Median FGF21 and GDF15 levels also trended higher in the affected human cohort compared to controls; however, these elevations did not reach statistical significance and appear to be correlated with sodium valproate therapy.
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12. Jeong JU. Aging Unequally: Functional Age Disparities Between Developmental and Non-Developmental Disabilities. Healthcare (Basel);2025 (Sep 24);13(19)
Background: Adults with developmental disabilities often experience accelerated aging, but the magnitude of this phenomenon is not well quantified. This study aimed to measure the disparity in functional ability and chronic illness prevalence between adults with developmental and other disabilities. Methods: A « functional age » was calculated for adults with developmental disabilities. This metric, designed as a statistical index of disparity, was derived from normative regression models of ADL and IADL based on a reference group of adults with other disabilities. Results: A profound gap was found between chronological and functional age. On average, a 44-year-old individual with a developmental disability exhibited a level of functional limitation equivalent to a person over 100 years older in the reference population for both ADL and IADL (p < 0.001). Conclusions: Accelerated aging in this population manifests as a severe, early onset functional disadvantage rather than an elevated burden of general chronic disease. Policies should shift toward function-based, not age-based, models of care to address these lifelong support needs.
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13. Kassir MH, Lovelace JW, Binder DK, Ethell IE, Razak KA. Combined Treatment with Minocycline and an mGluR5 Antagonist Alters Resting EEG Spectral Power, but Not Sound-Evoked Responses, in a Mouse Model of Fragile X Syndrome. ASN Neuro;2025;17(1):2564628.
Fragile X Syndrome (FXS) is a leading genetic cause of intellectual disability and autism-like behaviors. Glutamatergic mGluR5 receptors and matrix metalloproteinase-9 (MMP-9) are therapeutic targets to treat FXS, but clinical trials targeting each of these pathways have not been successful. Here, we tested if the electroencephalography (EEG) phenotypes associated with FXS are reversed with a novel combination of treatments affecting the two pathways. Fmr1 knockout (KO) mice were given 10 days of CTEP (mGluR5 antagonist) alone or in combination with minocycline (MMP-9 inhibitor). EEG was recorded during resting (no acoustic stimulation) and during sound presentations (to produce sound-evoked EEG) at 1 day and 10 days after the beginning of treatment administration to test acute effects and potential tachyphylaxis. In pre-treatment WT and KO mice comparisons, we replicated previously published Fmr1 KO mouse EEG phenotypes including elevated power in the resting gamma band, elevated single trial power, and reduced phase-locking to spectrotemporally dynamic auditory stimuli. We found that CTEP treatment alone did not show any benefit compared to vehicle in Fmr1 KO mice after either 1 or 10 days of treatment. CTEP + minocycline reduced resting gamma band power in the Fmr1 KO mice to a greater extent than vehicle at both treatment time points. There were no effects on sound-evoked responses. These data suggest that combined CTEP and minocycline treatment alters resting EEG measures while each treatment administered separately does not yield similar changes. High power in broadband gamma frequency correlates with irritability, stereotyped behaviors, and hyperactivity in FXS patients, suggesting a combination of drugs that reduce mGluR5 and MMP-9 activity may be beneficial in FXS.
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14. Kong L, Liu M, Li A, Pan X, Zhao Y, Tan H, Li H, Shi J, Ren L, Wang J, Zhang Z, Guo Y, Zhang W, Wang C. The Influence of Refractive Errors on Facial Expression Processing in Children With Autism Spectrum Disorder: An Eye-Tracking Study. Autism Res;2025 (Oct 16)
Facial expression processing is important for social understanding; among children with autism spectrum disorder (ASD), refractive errors may reduce visual input, further hindering their ability to recognize and interpret faces. This study aimed to investigate the gaze patterns of children with ASD when viewing facial emotion expression pictures under refractive errors and compare these patterns with those of typically developing (TD) children. A total of 76 participants diagnosed with ASD and 73 TD children matched by age were included. All children underwent a comprehensive ophthalmic examination and successfully completed the eye-tracking tasks. Astigmatism accounted for > 90% of refractive errors, though all types were included to reflect real-world visual challenges. The results showed that children with refractive errors showed slower responses to the visual stimuli than children with typical refractive status. Children with ASD and refractive errors exhibited slower responses to the mouth area compared to the nose and eyes and experienced difficulty in rapidly distinguishing between the nose and eyes. Additionally, they were unable to differentiate visual patterns between the nose and mouth regions during fixation tasks. In contrast, children with ASD with typical refractive status showed visual sensitivity and tendencies for areas of interest (AOIs) comparable to those of TD children, with response times fastest for the nose, followed by the eyes, and slowest for the mouth. In conclusion, refractive errors, particularly astigmatism, may substantially contribute to difficulties in accurately responding to facial social cues and directing visual attention to socially relevant areas in children with ASD.
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15. Liyew WA, Moges A, Girma F, Abebe W, Afework M. Sensory and cognitive awareness impairment patterns in children with autism spectrum disorder: a factorial analysis of the underlying constructs. Child Adolesc Psychiatry Ment Health;2025 (Oct 15);19(1):112.
BACKGROUND: Individuals with autism spectrum disorder (ASD) have a wide range of challenges related to sensory and cognitive awareness. In Ethiopia, the increasing prevalence of ASD underscores the need for a comprehensive understanding of the associated challenges and impairments, an area that has not been studied so far. OBJECTIVE: The objective of this study was to investigate the underlying patterns of sensory and cognitive awareness impairments in children diagnosed with ASD at autism centers in Addis Ababa, Ethiopia. METHODS: An institution-based cross-sectional study was conducted at the Nehemia Autism Center and the Nia Foundation in Addis Ababa, Ethiopia. The study included children aged 4 to 16 years who had a confirmed diagnosis of ASD. A total of 145 study participants involved in this study. Study subjects were identified in collaboration with staff and caregivers. Caregivers of the study subjects were approached by trained data collectors, and written informed consent was obtained. The sensory/cognitive awareness subscale of the Autism Treatment Evaluation Checklist (ATEC) was administered to caregivers. This questionnaire tool has been validated for the autism population in Ethiopia. A face‒to-face interview was conducted. Data analysis was conducted IBM SPSS Version 22 Statistical Software. Principal component analysis with varimax rotation was employed to examine the patterns of sensory and cognitive awareness impairments. The numbers of principal components and factors to be retained were determined by examining the Eigenvalues and scree plot. Eigenvalues greater than 1 were used. The variable composition of each factor was examined by analyzing the factor loadings in the rotated component matrix. High variable loadings above 0.3 were considered for each factor. RESULTS: This study revealed five patterns of sensory and cognitive awareness impairments in children diagnosed with ASD. Pattern 1, limitation in social engagement and exploration (α = 0.822); Pattern 2 challenges in emotional awareness and cognitive responsiveness (α = 0.743); Pattern 3 challenges in story comprehension and creativity (α = 0.62); Pattern 4 difficulties in social reciprocity and reward (α = 0.34); and Pattern 5 trouble with focus and attention (α = 0.12). All of these patterns accounted for 60% of the total variance. CONCLUSION: In this study, five patterns of sensory and cognitive awareness impairments were identified. Clinicians and therapists may need to consider these patterns for more personalized and effective support of children with ASD.
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16. Nicolet G, Marchi N, Perroy J, Peyre H, Baghdadli A, Picot MC. Valproate-Induced Autism and Sexual Hormone Disturbances: A Literature Review and Hypotheses. Neurochem Res;2025 (Oct 16);50(6):329.
Autism spectrum disorders (ASD) are neurodevelopmental disorders whose aetiology remains obscure. Multiple human and animal studies have shown that prenatal exposure to valproate increases the risk of ASD in children. Although the mechanisms implicated are still poorly understood, several hypotheses have been put forward; one being that the alteration of the prenatal hormonal milieu could be involved. Indeed, hormone disruption was observed in women with epilepsy or bipolar disorder treated with valproate with an increased risk of experiencing hyperandrogenism or an androgen-associated pathology such as polycystic ovary syndrome (PCOS) or diabetes. This could be explained by an inhibition of aromatase, the enzyme responsible for the aromatisation of androgens into oestrogens. Hormone disruption could impair neurodevelopment through the involvement of the orphan retinoic acid receptor alpha (RORA), a nuclear receptor whose expression is regulated by dihydrotestosterone (DHT) as well as estradiol, and whose transcriptional targets are implicated in ASD. Moreover, neuroestradiol is a key regulator of neurodevelopment and the effects of its disruption seem to overlap with the consequences of prenatal exposition to valproate. Finally, the onset of autism seems to be more frequent when pregnancies were affected by conditions hormonal disturbances such as obesity, diabetes, pre eclampsia or prematurity. This provides a better understanding of valproate-induced autism patterns and opens up new avenues of research to better understand the development of this disorder.
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17. Özsavran M, Üstüner Top F, Kuzlu Ayyıldız T. Experiences of Mothers of Children With Autism Spectrum Disorder in Protecting Their Children’s Health: A Phenomenological Study in Northern Türkiye. Public Health Nurs;2025 (Oct 16)
BACKGROUND: ASD impacts not only the person diagnosed with the condition but also the entire family, and the family’s life is altered in various ways. The research was carried out to understand the experiences of mothers of children diagnosed with autism spectrum disorder in safeguarding their children’s health. DESIGN AND METHODS: In this study, which employed the phenomenological research approach, semi-structured, in-depth interviews were held with 19 individuals who are parents of children diagnosed with autism spectrum disorder in a province located in northern Türkiye. RESULTS: The data analysis identified five main themes (child health protection practices, mothers’ domestic practices, the first thing mothers do when their child is ill, application to health centers and care support in health protection). The sub-themes of adopting a healthy eating routine, choosing clothes suitable for weather conditions, traditional and cultural practices, keeping the house clean, regular sleep, eliminating self-care inadequacy, exercise and movement, and so forth, were determined for child health protection practices. It was revealed that the mothers thought that they were more observant, controlling, and careful to protect their health in a holistic dimension by paying attention to the characteristics of their children. PRACTICE IMPLICATIONS: As a result of the study, it was found that mothers of children with autism spectrum disorder exerted greater effort in physical, emotional, and social aspects both inside and outside the home, taking into account their children’s specific characteristics to safeguard their health. Awareness of mothers’ experiences in protecting the health of a child with ASD is vital in addressing the need for the type of care and support required for children with ASD.
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18. Robas R, Tripathi U, Rike WA, Sharma O, Stern S. Digestive Neurobiology in Autism: From Enteric and Central Nervous System Interactions to Shared Genetic Pathways. Int J Mol Sci;2025 (Oct 1);26(19)
Social communication difficulties characterize autism spectrum disorders (ASD). Gastrointestinal (GI) symptoms are more common in ASD than in the general population. The identification of GI problems in individuals with ASD is challenging due to their altered pain perception and irregular behaviors. Importantly, GI symptoms and ASD can potentially aggravate each other. However, it is unclear if GI problems cause ASD symptoms or vice versa. A crosstalk between the digestive system, gut microbiota, and the central and enteric nervous systems (CNS and ENS, respectively) has been repeatedly reported. The ENS regulates the GI tract with the CNS and the autonomic nervous system (ANS), as well as independently through specific neural circuits. Several mechanisms contribute to GI problems in ASD, including genetic mutations that affect the ENS, dysregulation of the ANS, alterations in gut microbiota, unhealthy dietary preferences, and changes in metabolomic profiles. Furthermore, studies have shown molecular and cellular differences in the GI biopsy of children with and without ASD. These findings highlight the unique nature of GI issues in ASD, underscoring the importance of further investigating the changes that occur in the digestive system and ENS in ASD models.
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19. Rollins KN, Pak NS, Hite M, Maxfield ND. Well-Being of Children With Stuttering and Autism: A First Glance. Int J Lang Commun Disord;2025 (Nov-Dec);60(6):e70146.
BACKGROUND: It is documented that children who stutter, as well as children with autism, may experience diminished well-being relative to children without these conditions. In contrast, almost nothing is documented about well-being of children living with both conditions, most likely because such children are relatively rare and thus challenging to study as a group. The study’s aim was to begin documenting well-being factors related to quality of life in children who both stutter and have autism by evaluating how parents/guardians characterized their children on a brief questionnaire administered within the United States over 16 years. METHODS AND PROCEDURES: Data collected on the Strengths and Difficulties Questionnaire (SDQ) of the National Health Interview Survey between the years 2001-2007 and 2010-2018 were analysed. Six SDQ questions asked parents/guardians to rate their children on aspects of well-being that can impact quality of life, including emotional symptoms, peer relationships, hyperactive behaviour, and overall conduct. Participants were grouped into children who stutter but do not have autism (CWS, n = 1999), children with autism who do not stutter (CWA, n = 1467), children who both stutter and have autism (CWSA, n = 204), and children with neither condition (CNC, n = 126 221). Demographic variables (age, biological sex, race, ethnicity, maternal education) and presence of co-occurring conditions were compared between groups. Ordinal logistic regression was used to estimate odds ratios (ORs) of reporting increased behavioural difficulty, worry, unhappiness, difficulty getting along with other children, attentional difficulty, and the impact of such difficulties on overall conduct in CWS, CWA, and CWSA relative to CNC, controlling for demographic variables and presence of co-occurring conditions. OUTCOMES AND RESULTS: Relative to CNC, the odds of reporting difficulty in all six domains were greatest for CWSA, followed by CWA and then CWS. Based on rankings of ORs, conduct problems in CWSA appear to be driven by increased difficulty getting along with other children, followed by increased worry, attentional difficulty, unhappiness, and behavioural difficulty. CONCLUSIONS AND IMPLICATIONS: Results have implications for informing additional research on quality of life in CWSA, including the need to better understand peer relationships, emotional, attentional, and behavioural challenges faced by CWSA. Additional research is also needed to characterize the quality of life in CWSA beyond the small number of dimensions probed by the SDQ. Clinically, results of this study point to a need to prioritize support for CWSA in domains of peer relationships, emotion, and attention, along with providing behavioural support.
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20. Sanders M, Saade Z, Mortillaro G. Short Research Article: Autism spectrum disorder and gender dysphoria among adolescents in a large, integrated health system. Child Adolesc Ment Health;2025 (Oct 16)
BACKGROUND: The association between autism spectrum disorder (ASD) and gender dysphoria (GD) in youth has been suggested. Recent research among academic medical centers and the military health system has found a positive association, while not yet being sufficiently explored in a civilian, nonacademic community setting. METHODS: We conducted a cross-sectional study among one of the largest nonacademic civilian databases within a single health system. RESULTS: This study validates the positive association between ASD and GD and finds that those with both diagnoses have a higher co-occurrence of depression, anxiety, and suicidality. CONCLUSION: This emphasizes the need for comprehensive gender and developmental assessments to ensure optimal care.
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21. Schwarzlose RF. Infant sensory gating and a developmental cascade to autistic traits and anxiety. Neuropsychopharmacology;2025 (Oct 15)
Disruptions to the infant sensory environment can have lasting effects on neural response properties and behavior in both humans and animals. Recent work has begun to highlight an additional factor in infant sensory experience: differences in inhibitory signaling and sensory gating. Converging work from human and animal studies has begun to implicate a developmental cascade by which impaired sensory gating during a sensitive period of neonatal neurodevelopment promotes a phenotype of sensory over-responsivity, autistic traits, anxiety, and other psychiatric challenges. In this Review, I propose a model for this developmental cascade and highlight how differences in infant sensory responsivity represent an important intermediate phenotype for research, screening, and supportive intervention.
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22. Singal D, Enns JE, Friesen K, Bopp K, Cameranesi M, Hanlon-Dearman A, Lai J, Nickel NC, Shooshtari S, Zwaigenbaum L, Brownell M. Prevalence and incidence of autism in children and adolescents in Manitoba, Canada: An updated estimate using population-based administrative health data from 2011 to 2022. Can J Public Health;2025 (Oct 16)
OBJECTIVES: Estimates of autism prevalence are critical for informing evidence-based decisions, allocating resources, and developing effective strategies to support autistic individuals and their families. In Canada, such estimates remain limited, with the most recent population-based data on autism prevalence and incidence in Manitoba spanning 2004-2015, underscoring the need for more current data. METHODS: We used linked, whole-population administrative health and clinical data to develop a validated identification algorithm. We determined annual prevalence and incidence rates of autism among Manitoba children and adolescents aged 0-17 from 2011 to 2022, and conducted regression modelling to examine changes over time, adjusting for sex, geography, and socioeconomic variables. RESULTS: We identified 9396 children and adolescents diagnosed with autism during the study period. The prevalence of autism diagnoses was 0.58% (95% CI 0.55-0.60) in 2011 and 1.67% (95% CI 1.63-1.72) in 2022. The incidence of autism diagnoses was 0.79/1000 (95% CI 0.69-0.90) in 2011 and 3.06/1000 (95% CI 2.87-3.27) in 2022. We found statistically significant year-over-year increases in both prevalence and incidence. CONCLUSIONS: Increasing autism prevalence indicates a pressing public health need for sustained investment in specialized healthcare services and supports that promote the full inclusion of autistic people in society. Strengthening surveillance systems across Canada is essential for generating high-quality population-based data to inform policy development and resource allocation and ensuring the health and social needs of autistic people and their families are met.
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23. Singh K, Shukla S, Kumari AP, Kumar A. Lacosamide Interaction with Expanded CGG Repeats RNA and Its Role in Modulating Poly-Glycine Protein-Mediated Toxicity in Fragile‑X Tremor/Ataxia Syndrome. ACS Pharmacol Transl Sci;2025 (Oct 10);8(10):3490-3508.
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a severe neurodegenerative disorder triggered by expansions of CGG trinucleotide repeats in the FMR1 gene. These extended trinucleotide RNA repeats [r-(CGG)(exp)] generate toxic homopolymeric poly-Glycine (polyG) proteins in neuronal cells through Repeat-Associated Non-AUG (RAN) translation and are also associated with RNA foci formation. This study examines the neuroprotective potential of Lacosamide, an antiepileptic drug, in targeting CGG repeat expansions associated with FXTAS. We employed a multidimensional approach, combining biophysical techniques, cellular assays, and a Drosophila model, to validate the selective interactions of Lacosamide with toxic CGG repeat RNA through a drug-repurposing strategy. Biophysical analyses, including Circular Dichroism (CD), Isothermal Titration Calorimetry (ITC), Electrophoretic Mobility Shift Assays (EMSA), and Nuclear Magnetic Resonance (NMR) spectroscopy, revealed Lacosamide’s binding affinity for GG mismatches within toxic CGG repeat RNA. Furthermore, Lacosamide treatment effectively mitigated polyG toxicity in FXTAS cellular and a Drosophila model of the disease. These affirmed the small molecule’s ability to reduce polyG aggregation-associated toxicity, thereby improving the diseased conditions. These findings suggest Lacosamide’s potential neuroprotective role in FXTAS, supporting further translational efforts for its clinical application to improve outcomes for patients affected by this debilitating disorder.
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24. Spoto G, Bertuccio MP, Visalli G, Currò M, Di Rosa G, Caccamo D. Single Nucleotide Polymorphisms in Oxidative Stress-Related Genes Are Associated with Autism Spectrum Disorders. Int J Mol Sci;2025 (Oct 7);26(19)
Autism spectrum disorder (ASD) is a complex group of severe neurodevelopmental disorders characterized by varying degrees of dysfunctional communication and social abilities as well as repetitive and compulsive stereotypic behaviors. We aim to evaluate the genetic predisposition to oxidative response and its relationship with altered oxidative stress markers in ASD patients. Genomic DNA was isolated from peripheral blood lymphocytes of 106 (83 M, 23 F; 7.9 ± 3.2 years) ASD patients and 90 healthy subjects (63 M, 27 F; 21.2 ± 1.8 years). Genotyping was performed by real-time PCR-based allelic discrimination, PCR and electrophoresis of GST deletion variants. Reactive oxygen metabolites (dROMs), the Biological Antioxidant Potential (BAP), and the advanced oxidation protein products (AOPP) were also measured. Furthermore, we assessed oxidative DNA damage by Single Cell Gel Electrophoresis. The evaluation of oxidative stress markers indicated a mild oxidative stress status and a higher level of DNA damage in nuclei of ASD patients’ lymphocytes. We found significant associations between ASD and several polymorphisms of genes involved in the detoxification and the response to oxidative stress. Genetic and environmental factors contribute to the onset of autism spectrum disorder, and ASD patients’ treatment requires a multimodal approach, including behavioral, educational, and pharmacological approaches.
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25. Valagussa G, Mari A, Redaelli E, Grossi E, Perin C, Purpura G. Relationship Between Vision and Postural Control in Children With Autism Spectrum Disorder: Is It Time to Move Forward? A Scoping Review. Motor Control;2025 (Oct 16):1-30.
Despite the main clinical criteria for Autism Spectrum Disorder (ASD) diagnosis being the dysfunction of socio-communicative interaction abilities and the presence of restricted interests and repetitive behaviors, sensory-motor dysfunctions are also frequently observed in this population. Moreover, among sensory-motor issues, both postural control and visual processing may be impaired. The main aim of this scoping review is to synthesize the evidence on the relationship between visual behavior and postural control dysfunctions in children and adolescents with ASD. This scoping review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocol, Extension for Scoping Reviews guidelines, and was registered a priori on the Open Science Framework. PubMed, CINAHL, Embase, PsycINFO, Scopus, and Web of Science databases were consulted. Primary studies with any study design were included. No time, geographical, or study setting limitations or language restrictions were applied. A total of 646 articles were found in the initial search, but only 14 studies met the full inclusion criteria. Findings highlighted that studies on the relationship between vision and posture in ASD children and adolescents are scarce, and their results are contrasting because of the significant heterogeneity in the methods. This scoping review carried out a relevant survey of the literature considering the relationship between vision and posture in ASD. Nonetheless, the characteristics of the included sample and the methodology used in the analyzed studies were highly variable. Thus, rigorous study methods with population-specific objective outcome measures are needed to draw generalizable conclusions.
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26. Wawszczak-Kasza M, Rachuna J, Madej Ł, Lewitowicz W, Lewitowicz P, Horecka-Lewitowicz A. Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families. Int J Mol Sci;2025 (Oct 3);26(19)
Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition with a complex genetic architecture. Dissecting the interplay between inherited variants and high-impact de novo variants is critical for understanding its etiology. We conducted a family-based study involving 42 families with ASD (139 individuals). Using a targeted next-generation sequencing (NGS) panel of 236 genes, we identified and characterized rare inherited and de novo variants in affected probands, parents, and unaffected siblings. Our analysis revealed a complex genetic landscape marked by diverse inheritance patterns. De novo variants were predominantly observed in individuals with atypical autism, while biparental (homozygous) inheritance was more common in Asperger syndrome. Maternally inherited variants showed significant enrichment in intronic regions, pointing to a potential regulatory role. We also detected variants in several high-confidence ASD risk genes, including SHANK3, MYT1L, MCPH1, NIPBL, and TSC2, converging on pathways central to synaptic function and neurogenesis. Across the cohort, five variants of uncertain significance (VUS) were identified, comprising two inherited variants in ABCC8 and additional variants in CUL23, TSC2, and MCPH1. Our findings underscore the profound genetic heterogeneity of ASD and suggest that distinct genetic mechanisms and inheritance patterns may contribute to different clinical presentations within the spectrum. This highlights the power of family-based genomic analyses in elucidating the complex interplay of inherited and de novo variants that underlies ASD.
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27. Yılmazer E, Çınaroğlu M, Köse S, Ülker SV, Tarlacı S. Salivary Oxytocin Levels in Children With and Without Autism: Group Similarities and Subgroup Variability. J Clin Med;2025 (Sep 24);14(19)
Background: Oxytocin (OXT), a neuropeptide involved in social bonding, has been proposed as a potential biomarker for autism spectrum disorder (ASD) due to its role in modulating social behaviors. However, prior studies on peripheral OXT levels in individuals with ASD have yielded inconsistent results, partly due to methodological and developmental variability. This study aimed to compare baseline salivary OXT concentrations between children with ASD and typically developing controls. Methods: In this cross-sectional, case-control study, salivary OXT levels were measured in 35 children aged 6-9 years (18 with ASD, 17 controls) using a standardized ELISA protocol. Samples were collected under controlled conditions and analyzed in duplicate. Between-group differences in raw and log-transformed OXT levels were examined using t-tests. Subgroup analyses were conducted by sex, and correlations with autism symptom severity (Aberrant Behavior Checklist, ABC) were assessed within the ASD group. Results: Children with ASD showed higher mean salivary OXT levels than controls (21.5 pg/mL vs. 14.0 pg/mL), but the difference was not statistically significant (Welch’s t = -1.79, p = 0.088). Log transformation of OXT values confirmed the non-significant group difference (t = 1.68, p = 0.102). Female participants with ASD had significantly higher OXT than female controls (p = 0.048), while no difference was observed among males. OXT levels did not significantly correlate with autism severity (r = -0.04, p = 0.88). Conclusions: Baseline salivary OXT levels do not significantly differ between children with and without ASD and do not correlate with behavioral symptom severity. However, elevated OXT in females with ASD warrants cautious interpretation and further investigation. Salivary OXT may not be a reliable standalone diagnostic biomarker but could have exploratory value for understanding sex-specific neurobiological profiles in autism.