Pubmed du 31/12/25
1. Abulaiti A, Yu H, Ma J, Wuji A, Chi H. Advancement on the Association between Gut Microbiota and Autism Spectrum Disorder in Children. Ann Nutr Metab. 2025: 1-24.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social interaction, communication, and the presence of restricted, repetitive behaviors. The rising global prevalence of ASD suggests a multifactorial etiology involving genetic, environmental, and neurodevelopmental factors. This review explores the establishment of the early-life microbiome, highlighting rapid microbial colonization from maternal and environmental sources. Emerging evidence indicates that delivery mode and infant feeding practices may influence ASD susceptibility. Although the concept of a sterile intrauterine environment remains debated, its investigation is valuable. The bidirectional « microbiota-gut-brain axis » has emerged as a critical pathway linking gut microbiota and brain function, offering potential therapeutic targets for ASD. Dietary patterns in children with ASD are often characterized by selectivity and restriction, which may disrupt gut microbiota composition and exacerbate gastrointestinal symptoms, thereby increasing ASD risk. Nutritional interventions and early behavioral therapies are thus essential. The gluten-free, casein-free (GFCF) diet remains controversial, with inconsistent evidence regarding its efficacy. Probiotic supplementation shows strain-specific effects, necessitating rigorous evaluation before clinical application. Given the heterogeneity of ASD, pharmacological treatments have shown limited universal efficacy. This review provides a comprehensive analysis of the interplay between diet, gastrointestinal symptoms, and ASD, evaluates the gut-brain axis as a mechanistic framework, and assesses the therapeutic potential of microbial interventions, including probiotics, prebiotics, and fecal microbiota transplantation (FMT). While promising findings have emerged, further well-designed clinical studies are needed to elucidate the complex etiology of ASD and validate therapeutic strategies.
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2. Alodaili MSM, Cornejo LTO, Saleh KA, Alrashedi H, Alrubaiee GG, Almoliky MA, Alqalah TAH, Alkubati SA. Quality of life of caregivers of children with autism spectrum disorder in Saudi Arabia. J Pediatr Nurs. 2025; 86: 709-16.
BACKGROUND: Caregivers of children with autism spectrum disorder (ASD) often experience significant emotional, physical, financial, and social challenges that influence their quality of life (QoL). In Saudi Arabia, the impact of caregiving within culturally distinct family structures remain underexplored. OBJECTIVE: To assess the caregivers QoL with ASD in Saudi Arabia and to analyze how demographic factors affect the QoL across the four domains of the WHOQOL-BREF. METHODS: A descriptive cross-sectional study was conducted between March and May 2025 among 302 caregivers recruited from autism centers and online groups. The validated WHOQOL-BREF was used to assess physical, psychological, social, and environmental domains. Data were analyzed using SPSS v25 with descriptive statistics, independent t-test, ANOVA, multiple regression analyses, and Pearson correlation. RESULTS: Caregivers scored lowest in physical health (M = 2.67, 41.8/100), while social relationships scored highest (M = 2.94, 48.5/100). Female caregivers had significantly lower physical QoL than male (p = 0.011; d = 0.36, 95 % CI: 0.12-0.60). Moderate positive correlations were found between physical and psychological health (r = 0.31, p < 0.001). The socioeconomic status and employment positively predicted QoL across domains. CONCLUSION: Caregivers, particularly women, experience poorer physical and psychological well-being. Findings underscore the need for gender-responsive, family-centered nursing interventions that integrate psychological support and community resources. IMPLICATIONS FOR PRACTICE: Pediatric nurses should incorporate caregiver burden screening, psychoeducation, and referral pathways into ASD care plans to enhance overall family health.
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3. Casella E, Depovere J, Delger C, Butynets M, Antczak P, Price T, Jirtle RL, Murphy SK, Hoyo C, Soubry A. Age-specific DNA methylation alterations in sperm at imprint control regions may contribute to the risk of autism spectrum disorder in offspring. Aging (Albany NY). 2025; 17(12): 2950-88.
Research findings suggest that advanced paternal age is associated with an increased risk of autism spectrum disorder (ASD) in children. The biological process behind this father-to-child inheritance of a disease may be driven by sperm epigenetic marks. This has been suggested earlier, but the identification of epigenomic regions responsible for these age-related responses have not been further elaborated. To identify sperm-specific marks, we conducted an epigenome-wide association study in sperm from 63 men, using the Illumina 450K array. Linear regression modeling was applied to identify differentially methylated CpGs (DMCs) by age; we controlled for body mass index, patient status, and multiple testing. We found 14,622 statistically significant age-related DMCs; most (69%) were inversely correlated. We identified 95 imprinted genes and emphasized 747 age-related DMCs adjacent to an imprint control region (ICR). Altered methylation patterns in ICRs may result in disturbed expression of imprinted genes and are suspected to be at the origin of several diseases in offspring, including neurodevelopmental disorders. Mapping our results to other databases revealed the following set of imprinted genes linked to ASD: OTX1, PRDM16, PTPRN2, B4GALNT4, KCNQ1, KCNQ1OT1, DLGAP2, PLAGL1, GNAS, GRB10, MAGEL2, CDH24, and FBRSL1. Further research on these genes could help understand the contribution of paternal age on the development of autism. A change in DNA methylation levels in ICRs before conception may contribute to the heterogeneity and complexity of ASD. Measured DNA methylation effect sizes were subtle, but small epigenetic disturbances in sperm may be important on a population level, especially if men continue delaying fatherhood. Public health would benefit from the development of preventive and educational programs.
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4. Çelebi SB, Binokay H, Gürbüz AA, Dağ C, Teke H. A Multidimensional Examination of Temperament, Problematic Media Use, Emotion Regulation, Behavioural Problems and Developmental Outcomes in Preschool Children. Int J Dev Neurosci. 2026; 86(1): e70089.
INTRODUCTION: This study examined relationships between temperament, problematic media use (PMU), emotion regulation, behavioural problems and developmental outcomes in preschool children, focusing on temperament’s mediating role between PMU and emotion regulation. METHODS: A cross-sectional study was conducted with 205 children (mean age: 54.28 months; 55.6% male) from a child psychiatry outpatient clinic. Parents completed standardized measures including the Short Temperament Scale for Children, Problematic Media Use Measure (PMUM), Emotion Regulation Checklist (ERC) and Strengths and Difficulties Questionnaire (SDQ). Children’s development was objectively assessed using the Denver Developmental Screening Test-II (DDST-II). Data analysis involved correlation, group comparisons and mediation analysis using the PROCESS macro. RESULTS: Problematic media use was significantly higher in children with developmental delays (p < 0.001) and strongly correlated with delays in all DDST-II domains (p < 0.001). A significant negative correlation was found between PMU and emotion regulation. Crucially, mediation analysis revealed that temperament fully mediated the relationship between PMU and emotion regulation (indirect effect: 0.018, 95% CI [0.0052, 0.030], p = 0.006), accounting for 62.7% of the total effect. Children with higher reactivity temperament traits showed stronger associations between PMU and emotional lability. CONCLUSIONS: The findings indicate that problematic media use is significantly associated with developmental delays in preschoolers. This underscores the necessity of moving beyond uniform screen time guidelines towards individualized, temperament-informed interventions to support healthy emotional development in the digital age.
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5. Dipre J, Burton L, Tchanturia K, Hollocks MJ. Thinking flexibly: A cognitive remediation therapy-informed intervention for autistic youth. Autism. 2025: 13623613251407294.
Autistic people are known to demonstrate greater difficulties with cognitive flexibility. These difficulties are associated with a range of poor outcomes, including elevated rates of anxiety and depression. Current intervention approaches fail to account for these specific mechanisms. In this study, we address this by piloting a new intervention which aims to specifically target cognitive inflexibility. The ‘Thinking Flexibly’ intervention has been co-designed with autistic youth based on previous work, including cognitive remediation therapy. Twenty autistic adolescents were recruited from clinical services and offered the eight-session intervention. Acceptability was assessed through participant drop-out and session completion. Participants (and their parents) also completed questionnaire measures of cognitive inflexibility, anxiety, depression and functional outcomes before and after the intervention. Our results indicated good acceptability with 19/20 participants completing the intervention and session attendance was high, with a single missed session. We found significant increases in flexibility across both parent- and self-report of a moderate effect. Participants reported significant reductions in symptoms of anxiety and depression. We conclude that ‘Thinking Flexibly’ is acceptable for use with autistic adolescents and shows promise as a standalone or adjunct therapy. Changes on outcome measures are promising and warrant further investigation in a larger trial.Lay abstractAutistic people often have greater difficulties with flexible thinking when compared to those without autism. People with difficulties in this area often appear to be ‘stuck’ in their style of thinking or in their way of behaving. This can have a negative impact on several areas of life, including on their mental health. In this study, we developed and tested an intervention designed to help autistic individual think flexibly. We showed that the intervention was acceptable (people were able to attend and complete the intervention) and some improvements in cognitive flexibility and mental health symptoms were reported.
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6. Estrada KB, Azamar KMM, Wang C, Sudi SD, Friday-Saunders K, Márquez V, Quintanilla-Carvajal MX, Acosta-González A, Conde-Martinez N, Porras AM, Alviña K. Supplementation with a Limosilactobacillus fermentum K73 synbiotic modulates gut microbiota function and behavior in gnotobiotic mice transplanted with microbiota from children diagnosed with autism spectrum disorder. bioRxiv. 2025.
BACKGROUND: Gut dysbiosis has been implicated in numerous pathological conditions, including neurodevelopmental and neurodegenerative disorders. Recently, dietary interventions targeted at restoring microbial balance have therefore gained attention as potential therapeutic strategies. We recently demonstrated that an encapsulated synbiotic containing high-oleic palm oil and Limosilactobacillus fermentum K73 can modulate the metabolic activity and composition of human-derived gut microbiota in an in vitro batch bioreactor. Here, we extended this work through an in vivo supplementation pilot study using gnotobiotic mice colonized with gut microbiota from Colombian pediatric patients diagnosed with autism spectrum disorder (ASD) or age-matched neurotypical (NT) donors. Behavioral assessments and analyses of gut microbiota composition and function were performed before and after synbiotic supplementation. RESULTS: First, we found that the gut microbiota from Colombian ASD patients exhibited significantly reduced richness relative to NT donors, consistent with reports from other geographical regions, and displayed distinct compositional features unique to this population. Humanization of the gnotobiotic mice with this donor microbiota was successful, with murine gut communities reflecting features of their corresponding donor microbiota. Notably, synbiotic supplementation induced significant increases in the abundance of beneficial taxa and the production of short chain fatty acids that were more pronounced in mice colonized with ASD-derived microbiota, with concurrent behavioral changes associated with beneficial modulation of gut microbiota. CONCLUSIONS: Overall, we provide evidence that supports synbiotic supplementation as a viable strategy to positively modulate gut microbiome in conditions of dysbiosis. Our study also expands the body of knowledge of gut microbiome to understudied populations such as Latin America.
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7. Goel A, Razak KA, Chubykin AA, Antoine MW. Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models. J Neurodev Disord. 2025; 17(1): 74.
Fragile X Syndrome (FXS), the leading known inherited cause of atypical behaviors associated with autism spectrum disorders (ASD), arises due to the reduced expression or absence of the Fragile X Messenger Ribonucleoprotein 1 (FMRP). Individuals with ASD and FXS often experience atypical sensory processing across modalities such as touch, hearing, and/or vision. The consequences of altered sensory processing can be debilitating, leading to impairments in sensory discrimination and an inability to filter out irrelevant sensory stimuli such as innocuous sounds, smells, sights, or touches. Currently, there is a significant knowledge gap in the field of FXS regarding the circuit mechanisms that drive atypical sensory processing and how these contribute to hypersensitivity and secondary effects, such as learning impairments and increased anxiety. Animal models of FXS mirror many of the sensory hypersensitivity issues observed in humans, exhibiting heightened anxiety, as well as learning and social impairments. Here, we discuss the dysfunctional neural dynamics underlying atypical sensory processing across modalities in FXS, potential therapeutic interventions targeting specific ion channels, receptors, and circuits, and propose future research directions that could pave the way for circuit-targeted therapies.
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8. Hacohen M, Levy A, Kaiser H, Green Snyder L, Amatya A, Gundersen BB, Spiro JE, Dinstein I. An open science resource for accelerating scalable digital health research in autism and other neurodevelopmental conditions. Nat Neurosci. 2025.
The Simons Sleep Project (SSP) is an open-science resource designed to accelerate digital health research into sleep and daily behaviors of autistic children. The SSP contains data from Dreem3 EEG headbands, multi-sensor EmbracePlus smartwatches and Withings’ sleep mats, as well as parent questionnaires and daily sleep diaries. It contains data from >3,600 days and nights collected from 102 children (aged 10-17 years) with idiopathic autism and 98 of their nonautistic siblings, and enables access to whole-exome sequencing for all participants. Here we present the breadth of available harmonized data and show that digital devices have higher accuracy and reliability compared to parent reports. The data show that autistic children have longer sleep-onset latencies than their siblings and longer latencies are associated with behavioral difficulties in all participants, regardless of diagnosis. The results highlight the advantages of using digital devices and demonstrate the opportunities afforded by the SSP to study autism and develop broad digital phenotyping techniques.
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9. Kara T, Kuru T, Kocaman O, Avşar PA, Çelebi F, Özşan OY. A Longitudinal Study on Symptom Severity in Early Childhood of Bilingual and Monolingual Children With Autism Spectrum Disorder. Int J Dev Neurosci. 2026; 86(1): e70092.
BACKGROUND: In increasingly globalized and multilingual societies, a key question for individuals with autism spectrum disorder (ASD) is how bilingual exposure influences their linguistic, cognitive, and social development. This study aimed to investigate the potential impact of a bilingual home environment on the severity and progression of ASD symptoms in children. METHODS: The study was conducted with 3-year follow-up results of a total of 69 children, 34 with bilingual home situations (BHSs) and 35 with monolingual home situations (MHSs). The Childhood Autism Rating Scale (CARS) was applied to assess the severity of the participants’ ASD symptoms. Neurodevelopmental evaluations were performed using the Denver Developmental Screening Test II (DDST-II). RESULTS: No significant differences were determined between the MHS and BHS groups in terms of developmental quotient total (DQt) baseline (p = 0.618), DQt follow-up (p = 0.288), or CARS baseline (p = 0.970) scores. However, CARS follow-up scores, indicative of greater symptom severity, were significantly higher in the BHS group (p = 0.030). While the MHS group showed a notable decrease in CARS scores, the BHS group’s scores tended to persist, with the decrease in CARS scores being significantly lower than that observed in the MHS group (p < 0.001). CONCLUSIONS: These findings suggest that children with ASD raised in bilingual home environments may exhibit comparatively less improvement in symptom severity over time. The influence of bilingualism on ASD may involve a range of complex linguistic, cognitive, and social factors. Future research should explore these variables in larger, more detailed studies.
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10. Kawamura N, Sakamoto M, Hashimoto C, Ozeki Y, Machida K. Parental perceptions of the psychosocial outcomes of equine-assisted activities and therapies for children with autism spectrum disorder in Japan: a phenomenological study. Int J Qual Stud Health Well-being. 2025; 20(1): 2585638.
BACKGROUND: Children with autism spectrum disorder (ASD) often experience challenges in social communication, behavioral regulation, and daily life adaptation. Equine-assisted activities and therapies (EAATs) have been implemented as complementary approaches to support psychosocial development. However, little is known about the experiences of parents in Japan whose children participate in EAATs. AIM: The study aims to qualitatively explore how parents in Japan perceive the psychosocial outcomes of EAATs for their children with ASD. By focusing on parental perspectives, this study seeks to clarify how EAATs may contribute to the well-being of both children and their families, and to inform the development of supportive therapeutic environments. METHODS: This qualitative study employed a phenomenological approach. Semi-structured interviews were conducted with ten parents whose children with ASD had participated in EAATs for a minimum of six months. Thematic analysis was guided by Colaizzi’s method. RESULTS: Four primary developmental stages emerged from the analysis of children’s experiences: (1) Learning physical and mental harmony, (2) Exploring interests and strengthening bonds with oneself and others, (3) Inspiring independence and interaction, and (4) Building resilience and communication skills. Furthermore, parents reported three overarching outcomes from their own involvement: (1) Parental well-being and engagement through horseback riding, (2) Parental joy and recognition of their child’s growth, and (3) Fostering Family Connection and parent-to-parent interaction. Participant narratives illustrated these themes vividly, highlighting specific examples of behavioral and emotional change. CONCLUSIONS: EAATs were perceived by parents as fostering not only the psychosocial growth of children with ASD but also enhancing parental well-being and family cohesion. To support children’s psychosocial development and promote the health and well-being of their parents, nurses could play a distinctive role by observing both psychological and physical changes, monitoring how these influence daily functioning and interpersonal relationships, and supporting parents in interpreting their child’s developmental progress.
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11. Kiejdo D, Depka Prądzinska M, Zawadzka T. Late Fusion Model for Emotion Recognition from Facial Expressions and Biosignals in a Dataset of Children with Autism Spectrum Disorder. Sensors (Basel). 2025; 25(24).
Children with autism spectrum disorder (ASD) often display atypical emotional expressions and physiological responses, making emotion recognition challenging. This study proposes a multimodal recognition model employing a late fusion framework combining facial expression with physiological measures: electrodermal activity (EDA), temperature (TEMP), and heart rate (HR). Emotional states are annotated using two complementary schemes derived from a shared set of labels. Three annotators provide one categorical Ekman emotion for each timestamp. From these annotations, a majority-vote label identifies the dominant emotion, while a proportional distribution reflects the likelihood of each emotion based on the relative frequency of the annotators’ selections. Separate machine learning models are trained for each modality and for each annotation scheme, and their outputs are integrated through decision-level fusion. A distinct decision-level fusion model is constructed for each annotation scheme, ensuring that both the categorical and likelihood-based representations are optimally combined. The experiments on the EMBOA dataset, collected within the project « Affective loop in Socially Assistive Robotics as an intervention tool for children with autism », show that the late fusion model achieves higher accuracy and robustness than unimodal baselines. The system attains an accuracy of 68% for categorical emotion classification and 78% under the likelihood-estimation scheme. The results obtained, although lower than those reported in other studies, suggest that further research into emotion recognition in autistic children using other fusions is warranted, even in the case of datasets with a significant number of missing values and low sample representation for certain emotions.
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12. Li MTW, Mello M, MacLennan K, Lee Masson H. Autistic adults prefer social touch less but engage just as much: The impact of social context, relationship type, sensory responsivity, and psychological factors. Autism. 2025: 13623613251403906.
Autistic people face touch-related challenges, yet the factors influencing these difficulties are not well understood. We developed a novel instrument to capture social touch experiences of autistic adults, along with both social and individual factors that influence them. Using a body-painting task and questionnaires, we demonstrated that the perception of touch interactions varies based on social contexts and neurotypes. Autistic adults, on average, prefer touch less, but the type of relationship influences the perceived comfort and meaningfulness of touch similarly in both groups. Regarding the appropriateness, erogeneity, and pleasantness of social touch, the autistic group showed different touch perceptions in professional and friendly scenarios compared to the non-autistic group, whereas touch in intimate scenarios was perceived similarly. Sensory responsivity, touch predictability, social confidence, and touch-related anxiety affect social touch to a greater extent than the non-autistic group. Despite these marked differences in perception, the autistic adults, on average, engage in social touch as frequently as non-autistic adults, and their satisfaction with touch is comparable. Our findings suggest that supporting autistic people would involve understanding their preferences and the contextual factors that contribute to their sense of comfort, rather than excluding them from touch interactions.Lay abstractAutistic people find certain types of touch, particularly light or unexpected touch, uncomfortable or overwhelming. The reasons for this are not fully understood. To address this, we asked both autistic and non-autistic adults how they feel about being touched in different situations and on different parts of the body. We also asked how much they enjoy touch and how they feel about being touched by people in various relationships, such as a partner, parent, or friend. Finally, we looked at how individual traits affect their experience of touch. We found that the autistic group engaged in social touch just as often as the non-autistic group and reported similar overall satisfaction. In intimate contexts, such as with a romantic partner, both groups perceived touch similarly. Both groups agreed that touch from a partner or child is the most meaningful and comfortable compared to other relationship types. Despite some similarities, autistic adults, on average, still reported enjoying social touch less overall and experiencing more touch-related challenges in romantic relationships. They also placed less importance on touch for bonding. Moreover, the autistic group rated touch as less appropriate, less pleasant, or less intimate than the non-autistic group in professional (like physiotherapy) or friendly (like a dance class) situations. While social interaction difficulties influence how both groups experience touch, other factors seem to play a stronger role for the autistic group, such as how predictable the touch is, whether they experience sensory challenges, and how socially confident they feel or how anxious about touch they are. Rather than assuming autistic people dislike touch, it is important to recognise that they may have different preferences, and that certain situations make touch feel more comfortable and enjoyable. Respecting these preferences can help make social touch more positive and meaningful, potentially improving relationship quality with autistic people.
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13. Li Q, Zeng S, Xie H, Zhang T, Zhao H, Wu W. Effectiveness of a culturally responsive early intervention model for children with autism and family outcomes. Res Dev Disabil. 2025; 168: 105193.
The purpose of this study was to evaluate the effects of an early intervention model based on the principles of Naturalistic Developmental Behavioral Intervention (NDBI) on young children with autism spectrum disorder (ASD) and family outcomes in China. We used a quasi-experimental design with participants assigned to either the control or intervention groups. The sample (N = 60) mean age was 4.8 years (SD = 1.1) in this study. Children in the treatment group received the culturally adapted intervention 3 h per day, 15 h per week. Children in the control group received public-funded intervention services for 3 h per day, and 15 h per week for a total of 8 weeks. Findings demonstrated a significant decrease in autism condition and improved level of support needed categorization for children in the intervention group, compared with the control group. Also, there were positive changes in the treatment group’s parental stress and anxiety levels. Discussion and implications for culturally responsive early intervention are discussed.
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14. Liu Y, Cai K, Wang Q, Guo S, Meng S, Qi K, Shi Y, Sun Z, Xiong X, Chen A. Core Deficits and Eating Behaviors in Children with Autism: The Role of Executive Function. Nutrients. 2025; 17(24).
Background: Children with autism spectrum disorder (ASD) frequently experience eating-related behavioral difficulties; however, the relationships among these difficulties, core ASD deficits, and executive function remain poorly understood. The present study examined how core ASD characteristics-restrictive and repetitive behaviors (RRBs) and social impairments-relate to eating behaviors, including food approach and avoidance tendencies. In addition, the study explored whether executive function serves as a mediating mechanism underlying these associations. Methods: A total of 184 children aged 3-12 years participated in this cross-sectional study. All variables were measured using parent-reported questionnaires, and data were analyzed through path modeling. The Social Responsiveness Scale-Second Edition (SRS-2) and the Repetitive Behavior Scale-Revised (RBS-R) were employed to assess social impairments and RRBs, respectively. Eating behaviors-comprising food approach and food avoidance dimensions-were evaluated with the Children’s Eating Behavior Questionnaire (CEBQ), while executive function was measured using the Child Executive Functioning Inventory (CHEXI). Results: The analysis revealed significant associations between RRBs and both food approach and food avoidance behaviors in children with ASD. Crucially, follow-up regression analyses specifying RRBs subtypes showed that Stereotyped Behavior independently predicted both food approach (β = 0.305, p < 0.001) and avoidance (β = 0.217, p = 0.002), while Compulsive Behavior specifically predicted food avoidance (β = 0.173, p = 0.021). Furthermore, executive function appeared to serve as a potential mediator in these relationships, suggesting that impairments in executive control may partially explain how repetitive behaviors influence eating patterns. Although social impairments showed weaker direct associations with eating behaviors, they indirectly affected both food approach and avoidance behaviors through deficits in executive function, highlighting the complex interplay among behavioral, cognitive, and social domains in ASD. Conclusions: These findings indicate that RRBs-one of the core characteristics of ASD-can predict children's eating behaviors and are concurrently linked to two seemingly opposite eating patterns. Both social impairments and RRBs appear to influence eating behaviors through executive dysfunction. This study provides new insights into the mechanisms underlying atypical eating behaviors in children with ASD and identifies executive function as a promising target for interventions aimed at improving eating-related outcomes in this population.
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15. Lunsky Y, Bobbette N, Chiu M, Thakur A, Patel P, Volpe T, Balogh R, Baskin A, Beaudoin MJ, Dever MJ, Durbin A, Fogle A, Kelly C, Lake J, Lefkowitz G, Mallett H, McCabe J, Noonan J, Selick A, Shooshtari S, Sockalingam S, St John L, Steel L, Thatcher A, McCarron M. Evaluating the impact of a national brain health education course for older adults with intellectual and developmental disabilities and caregivers: Brain Health-IDD Program protocol. BMJ Open. 2025; 15(12): e108960.
INTRODUCTION: Adults with intellectual and/or developmental disabilities (IDD) experience higher rates of age-related health concerns, including dementia, than adults without disabilities. Despite this, current efforts to support brain health in ageing have often excluded this population. To address this gap, we will codesign, codeliver and evaluate a national virtual brain health education programme, Brain Health-IDD, for ageing individuals with IDD, family caregivers and health and social care providers. METHODS AND ANALYSIS: This study will evaluate the Brain Health-IDD Program, an interactive virtual psychoeducation course codesigned and coled by an interdisciplinary team of clinicians and people with lived experience. Three participant groups will be recruited from across Canada: adults with IDD, aged 40 years and older; family caregivers who have a family member with IDD aged 40 years and older or who are themselves aged 60 years and older; and health or social service providers who support adults with IDD aged 40 years and older. Outcomes will be measured at baseline, postcourse and 3-month follow-up. Data will be collected through structured surveys, including both closed and open-ended questions, and focus group interviews.Primary outcomes are participation, satisfaction and changes in knowledge and self-efficacy related to brain health among the three participant groups. Secondary outcomes for both adults with IDD and family caregivers include changes in health-related behaviours (social connections, sleep hygiene and physical activity), physical health, mental wellbeing, resilience and whether cognitive screening is initiated for adults with IDD and for caregivers. For health and social service providers, secondary outcomes include changes in brain health promotion practices and whether cognitive screening for older adults with IDD is initiated.Analysis of open-text survey responses and qualitative data from focus group interviews will explore the experiences of participants with the Brain Health-IDD Program. ETHICS AND DISSEMINATION: Institutional ethics approval was obtained from the Centre for Addiction and Mental Health Research Ethics Board. Programme findings and resources will be shared with advocacy groups, disability agencies, family caregiver organisations, clinicians and policymakers in the fields of disability, health and ageing at the provincial, national and international levels.
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16. Ma R, Ullah H, Bohlooli FS, Wen Y, Xin Y, Wang J, Lu S, Wang L. Autism-Associated Gut Microbiota-Derived Enterococcus facium Modulates Gut-Brain Axis Function and Behavior in Mice. Pathogens. 2025; 14(12).
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication deficits, repetitive behaviors, and restricted interests. Although its pathogenesis is not fully understood, emerging evidence suggests a connection between gut microbiota alterations and ASD. The role of specific bacterial species, particularly Enterococcus faecium, in the development of ASD remains unclear. This study aimed to investigate the impact of E. faecium derived from the feces of autistic children on mice. Thirty male BALB/c mice were divided into three groups: control, E. coli, and E. faecium treatment groups. E. faecium was administered orally for 30 days. Behavioral assessments, including open field tests, sucrose preference, Y-maze, and social interaction tests, were performed to evaluate anxiety, depression, memory, and social behavior. Additionally, serum 5-HT levels were measured, and colon and brain tissues were analyzed for inflammation, blood-brain barrier (BBB) integrity, and histological changes. Stool DNA sequencing was used to assess microbiota diversity and composition. Treatment with E. faecium significantly altered behavior in mice, including increased anxiety, depression, impaired memory, and social dysfunction. Colon histology revealed severe damage, including increased inflammation, reduced tight junction protein expression, and decreased mucin-2 levels. Elevated serum lipopolysaccharide (LPS) levels indicated systemic inflammation, and gut microbiota analysis showed significant dysbiosis. In the brain, particularly within the hippocampus and cortical regions, E. faecium induced neural damage, heightened inflammation, and compromised blood-brain barrier integrity. Enterococcus faecium from autistic patients can induce significant behavioral changes in mice, potentially via gut microbiota dysbiosis, intestinal barrier disruption, and brain inflammation. These findings suggest that E. faecium may contribute to gut-brain axis dysregulation in ASD, although further mechanistic studies are warranted.
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17. Moser C, Yang CH, Hogan AL, Fairchild A, Roberts J, Klusek J. Mother-Child Biobehavioral Synchrony and Its Association With Social Functioning in Autistic School-Aged Children. Autism Res. 2025.
Parent-child biobehavioral synchrony, or the concordance of behavior and physiological indicators between individuals, is theorized to support children’s social development; however, this relationship has yet to be investigated in autistic children. This study examined whether moment-to-moment physiological synchrony-indexed via respiratory sinus arrhythmia (RSA)-and its interface with global levels of behavioral synchrony was associated with the pragmatic language skills and friendship quality of school-aged autistic children in 40 mother-child dyads. Mother-child dyads participated in a collaborative task, from which RSA synchrony and behavioral synchrony were assessed. Mothers and their autistic children demonstrated negative RSA synchrony, such that when one partner displayed an increase in RSA, the other partner showed a decrease in RSA. The extent of behavioral synchrony between mothers and their children did not moderate the strength of concordance between mother and child RSA. Negative RSA synchrony was associated with better pragmatic language skills in autistic children from mother-child dyads who displayed high levels of behavioral synchrony. These findings highlight the complexity of dyadic synchrony, suggesting that the coordination of mother-child RSA, in conjunction with behavioral synchrony, may aid in the development of social skills in autistic children that extend beyond the immediate caregiver context. However, larger longitudinal studies are needed to confirm this. This study examined whether mothers and their school‐aged autistic children have consistent heart activity patterns when interacting with each other, which is called physiological synchrony. We also explored whether physiological synchrony was linked to how closely their behaviors aligned, which is called behavioral synchrony. We found that mothers and their autistic children did match their heart activity but in the opposite direction—when one partner had an increase in heart activity, the other partner had a decrease. This is called negative physiological synchrony. In this study, we did not find a link between behavioral synchrony and physiological synchrony. We also explored whether physiological synchrony and behavioral synchrony are related to pragmatic language, or the social use of language, and friendship quality in autistic children. Friendship quality was not related to physiological or behavioral synchrony, but for mothers and children who displayed high levels of behavioral synchrony, more negative physiological synchrony was related to better pragmatic language skills for autistic children. eng.
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18. Pagán AF, Bruce MJ, Vanderburg JL, Sattem G, Loveland KA, Acierno R. An analysis of how autistic burnout relates to posttraumatic stress in autistic adults. Res Neurodivers. 2025; 1.
This study investigated the relationship between autistic burnout and posttraumatic stress symptoms (PTSS) in trauma-exposed autistic adults without intellectual disability (n = 91). Cross-sectional relationships between autistic burnout (measured by the ABSI), PTSS (PCL-5), depression (PHQ-9), and anxiety (GAD-7) were assessed using Pearson correlations. To examine the distinctiveness of autistic burnout from posttraumatic stress, an exploratory factor analysis was conducted on ABSI and PCL-5 data. A strong correlation was found between autistic burnout and PTSS (r = .70, p < .001), an exploratory factor analysis suggested shared underlying factors. These findings indicate a close relationship between autistic burnout and PTSS in this population, particularly concerning self-image and memory. Further research is needed to clarify the unique aspects of autistic burnout and its measurement.
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19. Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, Boonchooduang N, Srisurapanont M. Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. Ann Med. 2026; 58(1): 2609424.
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID) is among the most common neurodevelopmental disorders, with up to half of cases are attributed to genetic factors. Chromosome microarray (CMA) has traditionally been the primary genetic test for idiopathic GDD/ID. However, whole exome sequencing (WES) and whole genome sequencing (WGS) have recently emerged, substantially increasing diagnostic yields in these populations. METHODS: We conducted a comprehensive literature search of PubMed, Scopus, EMBASE, and the Cochrane Library from inception to April 29, 2025. Studies reporting the diagnostic utility of these tests in children with GDD/ID were included and analyzed. RESULTS: A total of 102 studies, comprising 55,752 children, were reviewed. The pooled diagnostic yield of WES was 0.37 (95% CI: 0.33-0.41; I(2) = 93%), significantly higher than that of CMA at 0.19 (95% CI: 0.16-0.21; I(2) = 95%). Subgroup analyses showed that WES yielded significantly higher diagnostic rates than CMA in both same-sample comparisons (OR = 2.27, 95% CI: 1.08-4.78) and different-sample comparisons (OR = 1.65, 95% CI: 1.15-2.37). Only one study evaluated WGS, reporting a diagnostic yield of 0.27. Meta-regression revealed a significant association between CMA diagnostic yield and the proportion of male participants (p < 0.01), but not with WES. No significant difference in diagnostic utility was observed between isolated GDD/ID and GDD/ID with comorbidities. CONCLUSION: In children with unexplained GDD/ID, WES demonstrates superior diagnostic and clinical utility compared to CMA. Incorporating WES as a first-line investigation in the diagnostic evaluation of GDD/ID may be warranted. The pooled diagnostic yield of whole exome sequencing (WES) was 0.37 (95% CI: 0.33–0.41), significantly higher than that of chromosomal microarray (CMA) at 0.19 (95% CI: 0.16–0.21) in children with global developmental delay/intellectual disability (GDD/ID).No significant difference in diagnostic utility was observed between isolated GDD/ID and GDD/ID with comorbidities.WES may be warranted as a first-line investigation in the diagnostic evaluation of GDD/ID. eng.
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20. Valles-Capetillo E, Argueta P, Martin LA, O’Kelley S, Kana RK. Symptoms of depression in autistic children and adolescents. Front Psychiatry. 2025; 16: 1697147.
Depression is a frequently co-occurring condition in autism spectrum disorder (ASD). Notably, autistic individuals are approximately four times more likely to experience depression than the general population. Difficulties in emotion regulation, inhibitory control, and social skills, common in autistic individuals, are thought to contribute to increased risk and vulnerability to depression. The present study sought to examine the prevalence of depressive symptoms and its cognitive correlates in a sample of autistic and neurotypical (NT) children and adolescents (53 ASD and 43 NT). Data were collected using parent-report questionnaires that assessed depressive symptoms, executive functions, and social skills. Group differences and the relationship between depressive symptoms and cognitive measures were assessed by t-test and linear regression analyses respectively. The results indicated a significant increase in depressive symptoms among the autistic, compared to NT, participants (p < 0.0001). Moreover, emotion regulation and social communication and interaction were significantly associated with depressive symptoms in both groups (p < 0.05). Additional analysis revealed that parental stress did not influence the relationship between executive functioning and interaction and depressive symptoms in both groups. But parental stress influenced the relationship between social communication and interaction and depressive symptoms. The present study highlights the dual contributions of emotional regulation and SCI to depression in both autistic and NT population. Furthermore, underscore the importance of addressing emotion regulation and social communication in identifying risk factors of depression and developing intervention strategies for depression.
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21. Wajapeyee S, Ford K, Gupta R. Exploring the potential link between ADHD, anxiety, autism, and cancer risk. Front Oncol. 2025; 15: 1688883.
Neurodevelopmental and mental health disorders such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and anxiety disorders (AD) are increasingly being studied for their potential links to cancer risk. In this review, we present evidence indicating that ASD alone is not strongly associated with an increased risk of cancer. However, elevated risk is observed in subgroups with co-occurring intellectual disability or congenital anomalies. For ADHD, no direct biological link to cancer has been established, though behavioral factors and medication use remain areas of concern. Anxiety disorders may contribute indirectly to cancer risk through chronic stress and associated health behaviors, with some studies suggesting increased risk for specific cancers, such as prostate or urological cancers. Overall, this review highlights that increased cancer risk appears to be more closely related to co-occurring conditions and lifestyle factors than to the primary diagnoses themselves.
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22. Wong KX, Chen ST, Ong JJ, Gan WY, Abdul Murad NA, Chong CW, Ramzi NH. Exploring gut microbiome and nutritional status among children with Autism Spectrum Disorder (MY-ASD Microbiome): A study protocol. PLoS One. 2025; 20(12): e0338801.
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterised by persistent deficits in social communication and the presence of restricted, repetitive behaviours or interests. Previous literature has identified a link between the gut and ASD; however, the underlying mechanisms remain unclear. Gut microbiota dysbiosis has been extensively reported in cohort studies of ASD, and specific microbial metabolites or by-products may serve as potential biomarkers for ASD. Additionally, children with ASD often exhibit food refusal, have a limited food repertoire and display a tendency to consume the same foods frequently; thus, these behaviours increase their risk of malnutrition (over-nutrition or under-nutrition) compared to typically developing (TD) healthy children. This study primarily aims to identify oral and gut microbiota among children with ASD and TD healthy children. The secondary aim is to determine the associations between oral and gut microbiota with nutritional status among children with ASD. The findings will enhance understanding of the aetiology of ASD and inform early intervention strategies to mitigate disease severity and early identification of malnutrition in genetically at-risk children. METHODS AND ANALYSIS: This observational, age-matched, case-control study is conducted in Malaysia among 40 male children with ASD and age-matched with 40 TD healthy controls aged 4-10 years. The dependent variables include the microbiota profile, identified through metagenomic sequencing analysis of saliva and faecal samples, and autism severity, assessed through validated questionnaires. Independent variables include nutritional status, determined through Subjective Global Nutrition Assessment (SGNA), anthropometry and dietary measurements, gastrointestinal symptoms, eating behaviour, behavioural profile, and sleep quality. Data collection is expected to be completed by June 2026. The study nature may limit causality establishment. Analyses will use chi-square/ANOVA for group comparisons, SparCC for microbiota correlations, and mixed-effects logistic regression to model associations. CONCLUSION: This study advances understanding of ASD-related microbiota, guiding personalised nutrition and precision healthcare in Malaysia.
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23. Wu Y, Wong O, Chen S, Wang Y, Lu W, Cheung CP, Ching JYL, Cheong PK, Chan S, Leung P, Chan FKL, Su Q, Ng SC. Distinct diet-microbiome associations in autism spectrum disorder. Nat Commun. 2025.
Autism spectrum disorder (ASD) is linked to both altered gut microbiota and unhealthy diets; however, the mechanistic connections remain elusive. In this study, we conducted a systematic analysis of fecal microbiome metagenomic data, paired with granular dietary assessments and phenotypic profiles, across a cohort of 818 children (462 with ASD, 356 without ASD; mean age = 8.4 years; 27.3% female). By integrating dietary indices, nutrient intake, and food additive exposures, we uncovered ASD-specific linkages to the microbiome. Poor dietary quality correlated with aggregated core autistic symptoms, gastrointestinal complications, and atypical eating behaviors. Notably, children with ASD exhibited a more pronounced diet-microbiome interaction network compared to neurotypical peers, suggesting heightened microbial sensitivity to nutritional inputs. Furthermore, synthetic emulsifiers-specifically polysorbate-80 and carrageenan-were associated with disrupted microbial connectivity in ASD, a phenomenon attenuated in neurotypical children. Our findings elucidate the mechanistic links between dietary factors-particularly synthetic food additives-and microbiome dysregulation in ASD, urging a re-evaluation of dietary guidelines for ASD populations and laying the groundwork for personalized nutritional strategies.