Pubmed du 12/12/25
1. Ahmmad MR, Pantazopoulos H, Faruque F, Zhang X, Puri R. Association Between Age-Specific Sleep Sufficiency and Autism Spectrum Disorder in U.S. Children. J Autism Dev Disord. 2025.
PURPOSE: This study aimed to examine the association between age-specific sleep sufficiency (ASSS) and autism spectrum disorders (ASD) among U.S. children aged 6-17 years. METHODS: Data were gathered from the 2022-2023 National Survey of Children’s Health (NSCH), including 63,866 children. ASSS was defined based on age-specific sleep hours guidelines from the American Academy of Sleep Medicine. Descriptive statistics, incidence risk, and adjusted regression models were used to assess associations, whereas stratified models were conducted to explore effect modification. Additionally, a machine learning model was developed to predict conditional probability with ROC curve and calibration were used for model evaluation. RESULTS: Children who did not meet ASSS recommendations had a significantly higher prevalence of ASD (5.16%) compared to those with ASSS (4.05%) (p < 0.001). In adjusted regression models, meeting ASSS criteria was associated with a markedly lower likelihood of ASD (OR = 0.78; 95% CI: 0.72-0.85; p < 0.001). Sex-stratified analyses demonstrated that this association persisted in both males (OR = 0.78; 95% CI: 0.71-0.86) and females (OR = 0.80; 95% CI: 0.68-0.93), though it was slightly stronger among males. Complementary machine learning analyses further supported these findings, revealing that females with sufficient sleep and aged below 14 years had the lowest predicted probability of ASD, whereas males aged 8-14 years without ASSS exhibited the highest likelihood of ASD. CONCLUSION: ASSS was significantly associated with a lower likelihood of ASD, particularly among males, highlighting its role as an important behavioral factor and a potential focus for targeted psychological health interventions.
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2. Alanazi AO, Aljohani EM, Enani S. Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report. Cureus. 2025; 17(11): e96388.
Tatton-Brown-Rahman syndrome (TBRS) is a rare overgrowth/intellectual disability disorder caused by DNMT3A variants. It is characterized by tall stature, macrocephaly, and intellectual disability, with an expanding neuropsychiatric spectrum that includes autism spectrum disorder (ASD) and behavioral disturbances. We describe a young adult Saudi male with overgrowth, macrocephaly, coarse facial features, and global developmental delay. Cognitive testing confirmed mild intellectual disability with relative verbal strengths. He was diagnosed with ASD and attention-deficit/hyperactivity disorder (ADHD) and treated with methylphenidate in childhood. In early adulthood, the patient exhibited regression characterized by speech loss, decline in self-care, incontinence, and psychotic-like symptoms, alongside gastrointestinal disease. Genetic testing revealed a novel heterozygous DNMT3A missense variant (c.923G>T, p.Gly308Val) in the PWWP domain, consistent with TBRS. This case illustrates the broadened phenotype of TBRS, including ASD, ADHD, and regression, paralleling prior reports of cognitive unevenness and behavioral vulnerability. Additional findings of eczema, elevated IgE, and anemia suggest possible underrecognized systemic involvement. This case emphasizes the importance of multidisciplinary evaluation and lifelong neuropsychiatric follow-up in TBRS. As the first reported case from Saudi Arabia to our knowledge, it broadens the clinical and geographic spectrum of the disorder and highlights the association between DNMT3A variants, intellectual disability, and ASD.
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3. Angell AM, Floríndez DC, Franklin MD, Taylor EE, Lopez J, Cogger JM, Guzman M, Rodriguez AR. « Stigma, » Survival, and Intergenerational Cultural Influences: Latina Autistic Contributions Through Community-Engaged Research. OTJR (Thorofare N J). 2025: 15394492251395704.
Amid calls for inclusion of autistic people in research, we present findings from our community-engaged study on the experiences of families of autistic girls, who experience disparities in autism identification, and show how the Autistic Lived Experience Collaborators (ALEC) in the Disparity Reduction and Equity in Autism Services (DREAmS) Lab influenced our findings. In Part 1 of our multimethod study, 21 caregivers completed interviews and survey questions. In Part 2, 10 Hispanic/Latino caregivers from Part 1 completed 1 to 3 interviews. Analysis used descriptive statistics and a narrative thematic approach. We also drew from analysis meeting notes. Girls from Spanish-speaking families had later ages of autism identification, which informed our qualitative themes: Survival Explains Stigma, a view of Hispanic/Latino culture that clarified the « stigma » that impacted the diagnostic process; and Intergenerational Influences on staying safe, which could include masking autistic traits. ALEC quotes show their contributions. Our community-engaged approach contributed to our findings and a more complex view of culture. “Stigma,” Survival, and Intergenerational Cultural Influences on Understanding Autism in Girls: How Our Latina Autistic Lab Members Contributed to Our Research Study Results Through Our Community-Engaged Research ApproachWhy was the study done? Autistic people often want to be included in research. Community-engaged research is a method for researchers to include community partners. In this article, we present the results of our community-engaged research study on the experiences of families of autistic girls, who tend to be diagnosed later than boys or are overlooked altogether. We also showed how the Autistic Lived Experience Collaborators (ALEC) in the Disparity Reduction and Equity in Autism Services (DREAmS) Lab helped us to analyze our data and contribute to our results.What did the researchers do? In Part 1 of our multimethod study, 21 caregivers completed interviews and survey questions. In Part 2, 10 Hispanic/Latino caregivers from Part 1 completed 1 to 3 interviews. We analyzed quantitative survey question data (numbers) using descriptive statistics (summaries). We analyzed qualitative interview data (caregivers’ stories) using narrative thematic analysis. We also took quotes from our team’s data analysis meeting notes and transcripts to show how ALEC contributed to analysis.What did the researchers find? Girls from Spanish-speaking families tended to be older when they were diagnosed with autism. This related to our two themes from caregivers’ stories. (1) Survival Explains Stigma shows how we came to understand Hispanic/Latino culture not as having a “stigmatized” view of autism; we instead understood the role of needing to focus on “survival” for Hispanic/Latino families, or any family from a minoritized racial or ethnic group. (2) Intergenerational Influences shows how families pass on “teachings” from one generation to the next about how to stay “safe,” and this could include masking, or hiding, passed-down autistic traits. We used ALEC quotes from our analysis meeting notes to show how they helped us come to these conclusions.What do the findings mean? Our community-engaged approach contributed to our research study results about “stigma” and survival, including a more complex understanding of Hispanic/Latino culture, and intergenerational influences on identifying and understanding autism. eng.
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4. Bessé M, Morel-Kohlmeyer S, Capdeville J, Prévost P, Tuller L, Bouazzaoui B, Taconnat L, Houy-Durand E, Gomot M, Angel L. Autistic traits and cognitive functions: A cross-sectional study from younger to older adulthood. Acta Psychol (Amst). 2025; 262: 106092.
PURPOSE: This study explored the relationships between autistic traits and cognitive functioning across the lifespan in the general population. METHODS: Young (19-39 years old, N = 38), middle-aged (40-57 years old, N = 40), and older adults (60-80 years old, N = 39) underwent performance-based assessments (e.g., verbal short-term and working memory, episodic memory, processing speed, executive functions) and completed self-reported measures (self-reported executive functioning), which are commonly studied in the context of autistic traits and aging. A self-reported questionnaire of anxiety and depression was also included to explore relationships among all self-reported measures. RESULTS: Findings showed that autistic traits, measured continuously using the Autism Spectrum Quotient (AQ) were negatively associated with age. Higher levels of autistic traits were associated with lower performance specifically in verbal short-term and working memory, with no significant associations found in other cognitive functions. These effects were consistent across all age groups. Interestingly, while elevated autistic traits were linked to more self-reported executive difficulties in young and middle-aged adults, no such relationship was observed in older adults. These findings suggest that the association between autistic traits and perceived executive function is weaker at older age, possibly due to older adults’ lower and less correlated self-reported scores, while younger groups may exhibit a stronger tendency toward negative self-assessment rather than a specific direct link between autistic traits and perceived executive function. CONCLUSION: Overall, the study highlights the complex relationships between autistic traits and cognition across the lifespan, suggesting the need for further research with larger, more diverse samples to clarify these associations.
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5. Cao M, Gu T, Li X, Jing J. Socioeconomic status and motor coordination function among children with autism. Front Psychiatry. 2025; 16: 1619918.
OBJECTIVE: To examine the association of socioeconomic status with the motor coordination impairment (probable DCD) of autism in a Chinese population. METHODS: Using cross-sectional data from the south region of China, 2020-2021, per capita family income, maternal education, and whether the only child was included as the indicators of socioeconomic status, motor coordination function was evaluated by the Developmental Coordination Disorder Questionnaire (DCDQ). We included 165 autistic children aged 2-12 years in the final analysis, among whom 88 were classified as probable DCD. RESULTS: After adjusting for covariates, the odds ratios for probable DCD among autistic children whose per capital family income was below 5000 yuan (OR: 4.77, 95% CI: 1.71-13.30) or 5000-8000 yuan (OR: 3.62, 95% CI: 1.36-9.61) per month were significantly higher than children whose per capital family income above 8000 yuan per month. Mothers without a college degree showed a decreased likelihood of probable DCD (OR: 0.33, 95%CI: 0.15-0.71). CONCLUSION: Low income of a family is associated with a higher risk of probable DCD among autism children. The linkage between higher education of the mother and probable DCD could be attributed to more grandparenting among these families. This is the first research exploring the association between socio-demographic factors and the motor coordination function of autism. It comes from a set of low/middle-income countries with limited sources of autism in the Asian area, and comprehensive SES factors are considered. We recommend more support to autism children from low-income families, especially motor-related intervention.
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6. Chakhunashvili K, Chakhunashvili DG. Does early screentime exposure or duration affect M-CHAT-R autism screening tool score?. BMC Pediatr. 2025.
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7. Chen S, Xiang Y. Brain assembloids decode human cortical networks in Rett syndrome. Cell Rep. 2025; 44(12): 116709.
Tenreiro et al.(1) employ human cerebral organoids and telencephalic assembloids to reveal that MeCP2 deficiency leads to multiple defects in the formation of cortical neuronal networks during early prenatal brain development, offering new insights into the pathology of Rett syndrome.
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8. Das S, Kumari AP, Singh K, Shukla S, Khandelwal S, Kumar A. Molecular Repositioning of Celecoxib as a Neurotherapeutic Agent in Fragile X‑Associated Tremor/Ataxia Syndrome (FXTAS). ACS Pharmacol Transl Sci. 2025; 8(12): 4264-84.
Fragile X-associated tremor/ataxia syndrome (FXTAS), a nucleotide repeat expansion disorder, arises from CGG repeat expansions in the 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, leading to RNA foci formation and toxic protein aggregation via repeat-associated non-AUG (RAN) translation. These fundamental mechanisms often lead to a series of consequences, including splicing defects, neuroinflammation, mitochondrial dysfunction, impaired autophagy, and cell death. Targeting toxic RNA repeats offers a promising therapeutic strategy. In this study, we identified Celecoxib, a selective cyclooxygenase-2 (COX-2) inhibitor, as a potential treatment for FXTAS. At first, we utilized various biophysical assays and molecular docking to confirm Celecoxib’s strong binding affinity toward the r-(CGG)(exp) RNA. Further studies in the cellular model demonstrated the potency of Celecoxib in reducing toxic protein aggregates and improving splicing defects. Notably, it significantly reduces FMR1PolyG aggregates in the Drosophila FXTAS model, leading to improved locomotor impairments and the mitigation of associated downstream pathological consequences. Moreover, Celecoxib treatment significantly extends the lifespan of the flies. Thus, these results collectively support the therapeutic potential of repurposing Celecoxib for the treatment of FXTAS.
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9. Diz S, Jacinto M, Costa AM, Matos R, Monteiro D, Teixeira JE, Antunes R. The effect of practicing sports on the body composition and physical fitness of people with intellectual and developmental disabilities. Front Psychol. 2025; 16: 1654598.
INTRODUCTION: People with IDD tend to have a sedentary lifestyle, which affects their health and physical fitness. METHODS: The aim of this study was to analyses the effect of a sport-based intervention, with weekly 60-min sessions over 36 weeks, on the body composition and functional physical fitness of people with Intellectual and Developmental Disabilities (IDD). The sample consisted of 36 institutionalized participants with IDD, divided into two groups: experimental group with 23 participants (M = 37.26; SD = 13.84) and control group with 13 individuals (M = 38.31; SD = 14.22). A stadiometer, bioimpedance equipment and the Hand Grip, Sit and Stand, Timed Up and Go and 6 Min Walk tests were used to assess the variables of interest. RESULTS: The experimental group showed statistically significant values in body mass index (p = 0.01; r = 0.301), muscle mass (p < 0.01; r = 0.431), Sit and Stand Test (p = 0.01; r = 0.324) and 6 Min Walk Test (p < 0.01; r = 0.399). DISCUSSION: The results suggest that long-term programs based on the practice of sports can bring benefits to the body composition and functional physical fitness of adults with IDD.
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10. Donoso-Estay L, Bravo CV, López V. Systematizing community-based health services for autistic individuals: a municipal model from Chile. Int J Equity Health. 2025; 24(1): 344.
BACKGROUND: There is a significant gap in health and social service provision for autistic children and youth in Chile, particularly regarding access to community-based care models that promote inclusion and quality of life. In response, this study presents the design and preliminary evaluation of a municipal health service model focused on autistic children and youth. This model integrates principles from the neurodiversity paradigm, the biopsychosocial model of disability, and quality of life approaches within a situated Theory of Change framework. METHODS: A qualitative, participatory approach was adopted, involving document analysis, participatory observation, and interviews with professionals and families. The study focused on the implementation process, the articulation of services provided, and the preliminary outcomes observed during the first two years of operation. Data were analysed thematically to assess the model’s contributions to service access, family well-being, and community engagement. RESULTS: Since its inception, the Municipal Centre has delivered more than nine thousand health and support services to nearly five hundred families. The model has strengthened local support networks, promoted community awareness, and contributed to changing social imaginaries about autism. Initial findings indicate improvements in access to care, family quality of life, and coordination between health and social services. However, challenges remain regarding long-term sustainability, intersectoral collaboration, and the absence of formal public policies ensuring continuity. CONCLUSIONS: This study contributes to the field of community-based health services by offering a replicable, rights-based approach to addressing the needs of autistic populations. It highlights the importance of integrated, participatory, and territorial strategies in health service delivery, particularly in contexts with significant gaps in provision. Further research is needed to evaluate long-term outcomes and scalability.
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11. Filogamo F, Liguori FM, La Rana G, Russo R, Cristiano C. Low-dose combination of ultramicronized palmitoylethanolamide and docosahexaenoic acid on neurosteroid and neuroinflammatory dysregulation in autism spectrum disorders. Neurotherapeutics. 2025: e00816.
Several studies show that neurosteroids currently play a significant role in autism spectrum disorders (ASD). However, the pathway of neurosteroid synthesis involved in ASD remains unclear. This study aimed to investigate the crosstalk between autism and neurosteroids, focusing on the mechanism of allopregnanolone production. We used the BTBR T+ tf/J (BTBR) mouse, a well-established animal model of ASD that exhibits typical autism-like behaviors along with neuroinflammation. In the hippocampus of BTBR mice, we observed a marked overexpression of pregnenolone and a related reduction in allopregnanolone levels. This neurosteroid imbalance also appears to be associated with an inflammatory pattern and the manifestation of repetitive and asocial behaviors. The combination of low doses of ultramicronized palmitoylethanolamide (PEA-um) and docosahexaenoic acid (DHA) restores allopregnanolone production modulating neurosteroidogenesis. In association with neurosteroid modulation, this restoration reduces repetitive behaviors and improves social interactions in BTBR mice, also modulating the inflammatory profile with a significant reduction in proinflammatory cytokines and brain-derived neurotrophic factor (BDNF) levels in the hippocampus. These effects demonstrate an important role of the peroxisome proliferator-activated receptor alpha (PPAR-α), whose expression is particularly reduced in BTBR mice. In addition, the pivotal involvement of PPAR-α was further supported by administering a specific antagonist that abolished the advantageous effects of PEA-um + DHA. Overall, our findings demonstrate the potential synergistic effect of the low-dose combination of PEA-um and DHA, confirming their therapeutic effect in ASD and the involvement of neurosteroids in their mechanism of action.
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12. Jorba M, Raventós A, Batlle A, Sánchez A, Vicente A. The inner speech and visualization in verbal autism questionnaire: A study and preliminary validation. Acta Psychol (Amst). 2025; 262: 106039.
We present the design and preliminary validation of a new scale for the study of inner speech and visualization in verbal autism, the Inner Speech and Visualization in Verbal Autism Questionnaire (ISVAQ). The questionnaire contributes to the study of inner speech, visualization and private speech from a first-person approach. We ran a study with 79 autistic and 81 neurotypical participants, and the results of the study showed that there was no significant difference in the (reported) uses of inner speech in autistic people compared to controls, although there was a weak though significant difference in higher visualization scores. Results also showed a significant difference in higher scores in private speech in the autistic population, as well as greater levels of dialogic inner speech in autistic women. We discuss these results in relation to existing empirical and theoretical research.
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13. Kariuki SM, Kipkemoi P, Kombe MZ, Bitta MA, Owen JP, Abubakar A, Newton C. Burden of Neurodevelopmental Disorders in Kenyan Children. JAMA Netw Open. 2025; 8(12): e2548853.
IMPORTANCE: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and intellectual disability contribute to one-tenth of the global burden of mental and neurologic disorders. The burden of NDDs is not well documented in Africa. OBJECTIVE: To assess the prevalence, risk factors, and comorbidities of NDDs in young Kenyan children. DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study was conducted among children aged 6 to 9 years residing in the Kilifi Health and Demographic Surveillance System in Kenya. In stage I of the study, children were screened for NDDs from March 16, 2015, to September 14, 2016; those with a positive screening result and a randomly selected proportion of those with a negative screening result were invited to undergo clinical evaluation to confirm the diagnosis (stage II). EXPOSURES: Adverse perinatal events, medical and family history, and socioeconomic status. MAIN OUTCOMES AND MEASURES: Prevalence of NDDs was estimated, and risk factors and medical comorbidities associated with NDDs were assessed using generalized linear models and link functions. RESULTS: Of the 11 223 children screened in stage I, 5646 (50.3%) were males, and mean (SD) age was 7.6 (0.96) years. A total of 522 children had an NDD confirmed in stage II, with an overall adjusted prevalence of 9.1% (90.8 [95% CI, 83.4-98.6] cases per 1000 children), which differed by sex (237 of 5577 females [4.2%] vs 285 of 5646 males [5.0%]; P = .045). The NDDs with the highest prevalence were ADHD (50.8 [95% CI, 45.2-57.1] cases per 1000 children) and cognitive impairment (27.1 [95% CI, 22.9-31.9] cases per 1000 children); ASD was also common (15.6 [95% CI, 12.6-19.1] cases per 1000 children). Co-occurrence of NDDs was reported in 118 children (22.6%; 95% CI, 19.2%-26.5%). Key factors associated with occurrence or onset of NDDs included adverse perinatal events (adjusted risk ratio [ARR], 1.64; 95% CI, 1.29-2.09), febrile infections (ARR, 1.28; 95% CI, 1.05-1.56), eating soil (ARR, 1.45; 95% CI, 1.13-1.85), snoring (ARR, 1.50; 95% CI, 1.27-1.76), and being landless (ARR, 1.32; 95% CI, 1.12-1.56). Head injuries were unique to developmental conditions and febrile infections to neurologic conditions, with many risk factors shared. Common medical comorbidities for NDDs after adjusting for attrition and screening specificity included motor neuron dysfunction (ARR, 2.79; 95% CI, 2.18-3.56) and malnutrition (ARR, 1.80; 95% CI, 1.37-2.39). CONCLUSIONS AND RELEVANCE: NDDs were common in school-aged children in this rural area of Kenya, and the findings suggest their occurrence was associated with preventable environmental risk factors. These disorders and associated comorbidities should be identified and addressed in children in Africa.
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14. Lee A, Oh WO, Park EJ. Family responses and influencing factors in raising children with developmental disabilities: A cross-sectional study in South Korea. Sci Rep. 2025; 15(1): 43667.
Family responses, which encompass how families respond to raise children with developmental disabilities (DDs) and manage their child’s condition, have a profound impact on both the child and the family as a whole. Demographic and contextual factors contribute to shaping family responses and overall experiences. Gaining a comprehensive understanding of family responses to raising children with DDs and the influencing factors is essential. This study examined how families responded to caring for their children with DDs and determined the factors associated with the family responses. A cross-sectional online survey was conducted with 200 parents of children with DDs in South Korea between September 2020 and October 2021. Families reported unfavorable perceptions across multiple aspects of family management and experienced difficulties in day-to-day caregiving. Various factors, including the child’s age, gender, and diagnosis, as well as parental age, gender, and education, were associated with different aspects of family responses. Higher levels of social support, from relatives, friends, and others in general, were linked to more positive family responses. This study highlights the challenges faced by these families and underscores the critical role of social support in promoting positive family responses. Moreover, this study emphasizes the importance of providing tailored interventions that take into account demographic and contextual factors to address the specific needs of families of children with DDs.
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15. Ma X, Belmonte MK, Zhao Y, Zhao J. Sex Similarities and Differences in Brain Dynamic Functional Connectivity Among Individuals With and Without Autism Spectrum Disorders. Hum Brain Mapp. 2025; 46(17): e70423.
Given the historical underrepresentation of autistic females in neuroscience research, few neuroimaging studies have directly compared females and males with autism spectrum disorders (ASD) to explore both sex-independent and -specific neural features. This study employed a sliding-window approach to construct dynamic functional connectivity and investigated sex similarities and differences in modular variability (nodal level), edge variability (edge level), and state variability (brain state level) in brain connectomes among individuals with and without ASD. Ninety-eight autistic individuals (49 female, 49 male; full-scale IQ ≥ 70) and 98 typically developing individuals (TD; 49 female, 49 male), matched on sex, age, and full-scale IQ, were selected from the Autism Brain Imaging Data Exchange (ABIDE). Results showed that both autistic males and females exhibited reduced modular variability in the left middle frontal gyrus and diminished edge variability in the functional connectivity between the right olfactory cortex and the right paracentral lobule, compared to their TD peers. Notably, autistic individuals manifested a sex-opposite shift in the edge variability of functional connectivity between the left amygdala and the right anterior cingulate and paracingulate gyri. Furthermore, greater autistic symptom severity was associated with reduced maintenance of a high-connectivity brain state characterized by functional competition between the frontal cortex and sensory-perceptual or subcortical regions. These findings reveal both shared and sex-differentiated alterations in connectome dynamics in ASD, with the sex-specific patterns aligning with the gender incoherence model. Understanding these dynamic features may inform more individualized and sex-sensitive educational and social support for individuals with ASD.
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16. Osório JMA, Ulrich-Ischer B, Mendes LF, Richetin S, Junod V, Rodríguez-Herreros B, Maillard AM, Favre J, Jequier Gygax M, Chabane N. Higher Intraindividual Gait Variability in Autistic Toddlers: A Pilot Study. J Autism Dev Disord. 2025.
PURPOSE: Motor impairments are pervasive in Autism Spectrum Disorder (ASD), with atypical gait patterns often observed but understudied in early development. The aim of this pilot study was to analyze spatiotemporal gait parameters and variability in toddlers with ASD compared to typically developing (TD) peers. METHODS: The study included 12 ASD and 9 TD male toddlers, aged 18-30 months, walking independently. We extracted spatiotemporal gait parameters from laboratory recordings of walking. Gait variability was assessed via coefficients of variation for each parameter. Group differences were tested and exploratory correlations between gait parameters and motor skills were assessed. RESULTS: Results indicated increased gait variability in the ASD group across parameters, suggesting less consistent motor control. Significant differences in variability were observed in stride length, step length, stance time, and stride time. CONCLUSION: This pilot study confirms that an objective assessment of gait is feasible in toddlers with ASD. Future research is needed to replicate the results in a larger sample, to explore underlying neurological mechanisms, as well as the impact of atypical gait maturation on other developmental domains. Early identification of atypical gait patterns could aid in designing interventions targeting motor development, potentially improving broader developmental outcomes in ASD.
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17. Osuna A, Pepper M, Zollars F, Kiche S, Wennberg J, Rodriguez B, Coker TR, Christakis D, Shic F, Bearss K. An Exploratory Study of Internet Use and Safety Concerns for Adults With Intellectual and Developmental Disabilities. J Autism Dev Disord. 2025.
PURPOSE: This study explores internet use patterns, safety challenges, and support needs among intellectually and developmentally disabled (IDD) adults, with the goal of informing the redesign of an internet safety intervention program. METHODS: A mixed methods study was conducted with 38 participants, including 17 IDD adults and 21 family caregivers (referred to as ‘caregivers’), affiliated with a community-based organization. Participants completed surveys assessing digital behavior, challenges, and support needs. A subsample of 22 participants engaged in semi-structured interviews to provide in-depth perspectives. Quantitative data were analyzed using descriptive statistics and qualitative data were examined through thematic analysis. RESULTS: IDD adults demonstrated active digital engagement across multiple platforms for social connection, learning, and entertainment. Participants revealed that IDD adults face challenges related to interpreting social cues, avoiding scams, and managing digital boundaries. Survey results show that challenges like knowing who to trust online was a concern for 82% of self-reporters and 76% of caregivers. Four themes were identified: internet use, online challenges, strategies, and recommendations. Caregivers often served as digital gatekeepers but reported limited access to resources and training. Study participants emphasized the need for practical, adaptable tools that align with evolving technology and individualized support needs. CONCLUSION: These findings highlight the need for accessible, stakeholder-informed interventions that address foundational digital literacy and emerging online risks. Results will inform the redesign of the Socialization, Education, and Learning for the Internet program and contribute to broader efforts to enhance digital safety, autonomy, and inclusion for IDD adults.
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18. Parikh AK, Singal A, Lipner SR. Ethical Considerations in Managing Dermatologic Conditions in Patients with Autism Spectrum Disorder. J Am Acad Dermatol. 2025.
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19. Petruzzelli MG, Matera E, Margari L, Marzulli L, Gabellone A, Cotugno C, Annecchini F, Cortese S. An update on the comorbidity of attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) and its clinical management. Expert Rev Neurother. 2025: 1-15.
INTRODUCTION: Over recent decades, research has identified both overlapping and distinct characteristics, risk factors, and genetic as well as neurobiological correlates associated with Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). This expanding body of evidence is increasingly informing the clinical management of individuals with comorbid ADHD and ASD. AREAS COVERED: Based on a targeted PubMed search conducted up to March 24,2025,24.03.25, prioritizing meta-analyses or umbrella reviews over primary studies (whenever relevant), with terms encompassing autism, assessment, and treatment, this review addresses: 1) Shared and distinct phenotypic characteristics, neuropsychological features, and genetic and neuroimaging correlates of ADHD and ASD; 2) The assessment of individuals presenting with both ASD and ADHD symptoms; 3) Pharmacological and non-pharmacological strategies for the management for individuals with comorbid ASD and ADHD. EXPERT OPINION: The comorbidity of ADHD and ASD should not be overlooked. Nevertheless, before diagnosing comorbid ASD and ADHD, clinicians should perform a thorough differential diagnosis, ensuring that ADHD symptoms are not better explained by ASD. Regarding treatment, further research is warranted to develop personalized approaches, support long-term management strategies, and evaluate real-world outcomes such as quality of life, which are often underrepresented in clinical trials.
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20. Seo E, Ha Y, Jeon P, Yoo E. Early Parent-Mediated Training for Social-Communication Skills in Toddlers and Preschoolers With ASD: A Systematic Review and Meta-analysis. J Autism Dev Disord. 2025.
PURPOSE: This study systematically reviewed the effects of early parent-mediated training designed to promote social and communication skills among toddlers and preschoolers with autism spectrum disorder (ASD). METHODS: This study focused on randomized controlled trials (RCTs) and statistically validated effect sizes using meta-analysis. Relevant studies published in domestic and international journals between 2014 and 2024 were selected using PubMed, Web of Science, EMBASE, RISS, KISS, and the Yonsei University Library, following the PRISMA flow chart. A total of 15 RCTs that met the inclusion criteria were included for analysis. During the systematic review, the participants’ general characteristics, intervention methods and duration, intervention effects, and assessment tools were examined. In addition, effect size analysis, heterogeneity assessment, publication bias evaluation, and sensitivity analysis were performed using the Comprehensive Meta-Analysis 4.0 program. RESULTS: All Fifteen RCTs included children with ASD. Early parent-mediated training showed moderate to large effects in improving social skills (1.09), communication skills (0.70), and reducing challenging behaviors (0.74), which were all statistically significant. The overall effect size was 0.80 (95% CI: 0.53-1.10). Although high heterogeneity (I(2) = 89%) was observed, the subgroup analysis suggested that intervention duration was a primary contributing factor. Although publication bias was observed, it did not significantly impact the results, and sensitivity analysis confirmed the stability of the findings. CONCLUSION: Early parent-mediated training is empirically supported as an effective strategy for promoting the development of children with ASD. Future research should examine its long-term effects, address heterogeneity, and work toward the standardization of intervention protocols.
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21. Smith JA, Keller S, Johns M, Reighard S, Nestheide T, Keeton C. Improving Acute Psychiatric Care for Individuals with Intellectual and Developmental Disabilities: A Mixed Methods Study on the Impact of a Resident Training Program to Identify and Manage Agitation. Acad Psychiatry. 2025.
OBJECTIVE: Adults with intellectual and developmental disabilities (IDD) face significant barriers to appropriate psychiatric care, disproportionately utilize emergency departments, and report lower care quality. They are also more likely to display agitation in the form of challenging behaviors. This study evaluated the impact of a didactic training on resident psychiatrist knowledge and comfort in managing agitation in individuals with IDD in acute psychiatric settings. METHODS: A 1-h training session was delivered to resident psychiatrists, facilitated by clinicians from a county-level Developmental Disabilities Services. The session focused on communication strategies, agitation management, and local resources. Pre- and post-training surveys were used to assess the knowledge and comfort of residents in caring for this population. A follow-up survey was conducted 1 month later to assess the retention and application of learned skills. RESULTS: Twenty residents completed both the pre- and post-surveys, with nine participating in the 1-month follow-up. Residents reported that the training improved their comfort identifying, evaluating, and managing agitation in individuals with IDD, as well as teaching others to better manage agitation in this population. Knowledge of available resources and confidence in the ability to care for agitated patients with IDD also improved. At 1 month, most respondents reported applying skills from the training, and confidence in their care abilities remained significantly elevated. CONCLUSIONS: A brief, targeted training significantly improved resident psychiatrists’ knowledge and comfort in managing agitation in individuals with IDD. Future efforts should explore expanding training to include all psychiatric care team members and assess long-term impacts on patient care quality.
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22. Straub D, Schmitt LM, Boggs AE, Horn PS, Dominick KC, Gross C, Erickson CA. Correction: A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome. Sci Rep. 2025; 15(1): 43662.
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23. Tarumi W, Iwanaga R, Nakahata Y. Physiological mechanisms of social odor perception and their implications for Autism Spectrum Disorders. Acta Psychol (Amst). 2025; 262: 106124.
Olfactory social communication shapes emotional bonding, social cognition, and survival behaviors across mammals. In humans, body-odor-based social chemosignals contribute uniquely to interpersonal recognition and affective communication. However, atypical processing of social odors may disrupt early attachment formation and oxytocin-mediated socio-emotional development. Here, we review behavioral and neurophysiological mechanisms underlying social odor perception with a specific focus on maternal-infant bonding and its modulation by oxytocin pathways. Integrating evidence from humans and animal models, we propose that early disruptions in social chemosignaling may contribute to atypical developmental trajectories relevant to Autism Spectrum Disorders (ASD). We also outline a mechanistic framework and future research directions aimed at leveraging social odor processing for translational advances in ASD.
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24. Tian X, Zhang X, Zhou C, Jiang Y, Ren X, Li T, Ni P. Generation and characterization of a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome. Stem Cell Res. 2025; 90: 103880.
This study reports the successful establishment of induced pluripotent stem cells (iPSCs) derived from a pediatric patient with Fragile X Syndrome (FXS), representing a valuable cellular model for studying the most prevalent hereditary form of intellectual disability. Blood samples were collected from an 8-year-old Han Chinese male presenting with intellectual disability and carrying a full FMR1 gene mutation (>200 CGG repeat expansion). A stable iPSC line designated HZSMHCi003-A was generated using episomal vector-mediated reprogramming with seven transcription factors (OCT4, SOX2, NANOG, LIN28, c-MYC, KLF4, and SV40LT). Comprehensive characterization confirmed normal chromosomal integrity, robust expression of pluripotency-associated markers, and tri-lineage differentiation potential as evidenced by teratoma formation assays. This FXS patient-derived iPSC line provides a unique platform for investigating neurodevelopmental pathophysiology and screening potential therapeutic interventions for intellectual disability associated with FMR1 dysfunction.
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25. Wang Z, Qu H, Christensen D, Gemmell HM, Parks EM, Wetherington KE, Orlando AM, Romero RA, Karmakar B, Vaillancourt DE. Atypical Visually Guided Precision Grip Control in Middle-Aged and Older Autistic Adults. Autism Res. 2025.
Sensorimotor impairments are well documented in autism spectrum disorder (ASD). However, little is known about how these difficulties present in middle-aged and older autistic adults or how they relate to demographic factors and autistic traits. In this study, 52 autistic and 56 age- and sex-matched non-autistic adults (aged 30-73 years) completed a visually guided precision grip task designed to assess temporal (reaction time, duration), spatial (force accuracy, variability), and dynamic (rate of force change) features of grip control under two conditions: varying motor output demands (target force test) and visual feedback (visual gain test). Autistic adults showed prolonged duration, delayed reaction time, and greater target overshooting at lower force levels during the rise phase. During the sustained phase, they exhibited increased grip force variability across both tasks. In contrast, autistic adults demonstrated shorter reaction times during the relaxation phase. Subgroup analyses revealed that the middle-aged autistic subgroup displayed elevated grip force variability, whereas the older autistic subgroup showed broader impairments affecting both spatial and temporal aspects of precision gripping. Within the autistic group, temporal grip force variables under the low target force condition were significantly associated with age and repetitive behaviors. These findings demonstrate that manual motor impairments persist into adulthood in ASD, and suggest shared neurobiological networks that underlie both motor dysfunction and core autistic traits.
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26. Wu C, Li X, Yang X, Wang H, Lin G, Liu Z. Dual-target hUCMSCs/EVs therapy for autism spectrum disorder: remodeling gut microbiota and modulating neuroimmune crosstalk in a valproic acid-induced C57BL/6 mice model. Stem Cell Res Ther. 2025.
INTRODUCTION: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social communication and repetitive behaviors. Accumulating evidence implicates neuroimmune dysregulation and gut microbiota dysbiosis in its pathogenesis, yet effective therapies targeting these mechanisms are lacking. This study investigated the therapeutic efficacy of human umbilical cord-derived mesenchymal stem cells (hUCMSCs) and their extracellular vesicles (EVs), both alone and in combination, in a valproic acid (VPA)-induced ASD mouse model. METHODS: VPA-exposed C57BL/6 mice were randomized into five groups: control, VPA, hUCMSCs alone, EVs alone, and hUCMSCs + EVs combination. Behavioral tests, biochemical analyses, 16 S rRNA sequencing, immunofluorescence, and transmission electron microscopy (TEM) were performed RESULTS: While both hUCMSCs and EVs alone showed some beneficial effects on certain ASD-like symptoms, each exhibited limited efficacy in achieving comprehensive remediation. In contrast, the combined hUCMSCs + EVs therapy yielded the most robust improvements across multiple domains, including social interaction and repetitive behaviors. Furthermore, the combination therapy synergistically normalized neuroinflammatory cytokine levels and oxidative stress, restored synaptic and mitochondrial ultrastructure in key brain regions, and promoted gut microbiota homeostasis by enriching beneficial bacteria such as Lactobacillus and reducing pathogens. DISCUSSION: These results highlight that although individual treatments offer partial relief, only the combined strategy fully restores neuroimmune-microbiota homeostasis, demonstrating a complementary and synergistic therapeutic effect. This study establishes a novel dual-target approach leveraging systemic hUCMSCs and CNS-targeted EVs, providing a promising translational strategy for ASD through orchestrated regulation of the neuro-immune-microbiota axis.
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27. Yan C, Feng F, Lan C, Luo G, Jiang X, Wang H, Chen Y, Yang Y, Deng L, Huang X, Wu Y, Chen W, Liu Y. Comprehensive multi-omics mapping of immune perturbations in autism spectrum disorder. Clin Transl Med. 2025; 15(12): e70552.
BACKGROUND: Autism spectrum disorder (ASD) is increasingly recognized as a neurodevelopmental condition with systemic immunological involvement, yet the underlying immune mechanisms remain incompletely defined. AIMS: To delineate the peripheral immune landscape in ASD using integrated multi-omics profiling and to determine how immune and immunometabolic alterations relate to clinical severity. MATERIALS & METHODS: Circulating immune cells from individuals with ASD were profiled using multicolor flow cytometry, single-cell RNA sequencing, and bulk RNA sequencing. Plasma proteomic and metabolomic analyses were performed to identify immune-related and metabolic biomarkers. Immune features were evaluated for associations with clinical severity measures. RESULTS: Multi-omics profiling revealed marked immune dysregulation in ASD, with significant shifts in immune cell subsets and inflammatory signatures that correlated with clinical severity. T cell abnormalities included reduced frequencies and a skewed Th1/Th2 balance, consistent with a chronic inflammatory milieu. Natural killer (NK) cells showed increased activation but impaired cytotoxic capacity, accompanied by expansion of an atypical NK subset. Myeloid-derived suppressor cells (MDSCs) and hyperinflammatory CD56+ monocytes were elevated. Transcriptomic analyses corroborated broad immune activation, prominently implicating interferon-driven and antiviral signaling pathways. Plasma metabolomics and proteomics further indicated disruptions in purine metabolism and oxidative phosphorylation, alongside increased inflammatory markers, which were significantly associated with symptom severity. DISCUSSION: These findings support a systemic immunometabolic framework in ASD characterized by concurrent immune activation and altered myeloid/NK cell states, providing mechanistic context for peripheral biomarkers linked to clinical phenotype. CONCLUSION: Integrated multi-omics profiling identifies robust peripheral immune and metabolic disturbances in ASD. The dysregulated immune subsets, activated immune pathways, and plasma biomarker signatures highlight potential avenues for biomarker-driven stratification and immune-targeted therapeutic development in ASD. KEY POINTS: T cell dysregulation, NK cell impairment, and myeloid expansion indicate a chronic inflammatory state and immune exhaustion phenotype associated with ASD severity. Plasma metabolomic and proteomic alterations, including disrupted oxidative phosphorylation and elevated inflammatory markers, correlate with ASD severity and highlight potential biomarkers. Multi-omics profiling links peripheral immune dysregulation to neurodevelopmental abnormalities, providing a framework for immune-targeted ASD interventions.
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28. Zhang J, Sun Q, Zhu H, Wang Q. Same behavior, different perspectives: direct reciprocity differences between children with autism and children with typical development. BMC Psychiatry. 2025; 25(1): 1151.
BACKGROUND: Direct reciprocity is closely related to social behavior in children with Autism Spectrum Disorder (ASD) and is an important guarantee of their integration into society. There are many differences in direct reciprocity between children with ASD and typical development (TD). Research has paid attention to the differences in reciprocity outcomes between the two types of children but has neglected the importance of the perspective focus in reciprocity, which is a vital mechanism for eliciting reciprocal outcomes. METHODS: This study explored differences in direct reciprocity between children with ASD (n = 29) and TD (n = 34) from the perspective of outcomes and perspective focus through resource allocation tasks. T tests and chi-square tests were used to compare group differences, and Pearson correlation analysis and stepwise regression analysis were used to analyse the mechanisms influencing the two groups’ reciprocity behavior. RESULTS: The results of the analysis of variance showed that the two groups of children were similar in reciprocal outcomes but differed in perspective focus. Regression analysis showed that the perspective focus could positively predict the reciprocity behavior of children with ASD under stingy conditions, while negatively predict their reciprocity behavior under generous conditions. Conversely, the predictive effects on TD children are opposite. Theory of mind and empathy could positively predict the reciprocity behavior of children with ASD under stingy conditions, while negatively predict their reciprocity behavior under generous conditions. By contrast, no significant predictive effects were observed for children with TD. CONCLUSION: The results show that the reciprocal outcomes of the two types of children were similar, both showing a pattern of ‘if you treat me well (badly), I will treat you well (badly),’ but their perspective focus differed. Children with ASD paid more attention to their own perspectives and responded based on their own gains and feelings. Conversely, children with TD paid more attention to others’ perspective and responded based on others’ motivations and feelings. CLINICAL TRIAL NUMBER: Not applicable.