Pubmed du 31/03/25
1. Antezana L, Conner CM, Eldeeb S, Turecki S, Siegel M, Karim HT, Mazefsky CA. Using machine learning to identify features associated with different types of self-injurious behaviors in autistic youth. Psychol Med;2025 (Mar 31);55:e98.
BACKGROUND: Self-injurious behaviors (SIB) are common in autistic people. SIB is mainly studied as a broad category, rather than by specific SIB types. We aimed to determine associations of distinct SIB types with common psychiatric, emotional, medical, and socio-demographic factors. METHODS: Participants included 323 autistic youth (~50% non-/minimally-speaking) with high-confidence autism diagnoses ages 4-21 years. Data were collected by the Autism Inpatient Collection during admission to a specialized psychiatric inpatient unit (www.sfari.org/resource/autism-inpatient-collection/). Caregivers completed questionnaires about their child, including SIB type and severity. The youth completed assessments with clinicians. Elastic net regressions identified associations between SIB types and factors. RESULTS: No single factor relates to all SIB types. SIB types have unique sets of associations. Consistent with previous work, more repetitive motor movements and lower adaptive skills are associated with most types of SIB; female sex is associated with hair/skin pulling and self-rubbing/scratching. More attention-deficit/hyperactivity disorder symptoms are associated with self-rubbing/scratching, skin picking, hair/skin pulling, and inserts finger/object. Inserts finger/object has the most medical condition associations. Self-hitting against surface/object has the most emotion dysregulation associations. CONCLUSIONS: Specific SIB types have unique sets of associations. Future work can develop clinical likelihood scores for specific SIB types in inpatient settings, which can be tested with large community samples. Current approaches for SIB focus on the behavior functions, but there is an opportunity to further develop interventions by considering the specific SIB type in assessment and treatment. Identifying factors associated with specific SIB types may aid with screening, prevention, and treatment of these often-impairing behaviors.
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2. Arzuaga AL, Teneqexhi P, Amodeo K, Larson JR, Ragozzino ME. Prenatal stress and fluoxetine exposure in BTBR and B6 mice differentially affects autism-like behaviors in adult male and female offspring. Physiol Behav;2025 (Mar 29);295:114891.
Autism spectrum disorder (ASD) is characterized by significant heterogeneity in the variety and severity of symptoms. Prenatal stress and/or exposure to antidepressants may be major contributors to ASD heterogeneity. To date, the effects of prenatal stress or selective serotonin reuptake inhibitor exposure have been primarily examined in common laboratory rat and mouse strains as opposed to in rodent models of autism. The present experiments determined in the BTBR mouse model of autism whether restraint stress (30 min session every 2 days during G4 – G18) and/or exposure to the SSRI, fluoxetine (3 mg/kg during G8 – G18) affects repetitive motor behaviors, anxiety and/or behavioral flexibility in offspring at adulthood. Male and female BTBR mice exhibited elevated grooming behavior compared to that of C57BL/6 J (B6) mice. The prenatal manipulations did not affect grooming in male BTBR mice, but the combination increased rearing and jumping. Prenatal stress, fluoxetine and the combination significantly reduced self-grooming, while concomitantly increasing locomotion in female BTBR mice. These prenatal manipulations also increased rearing and jumping behavior in female BTBR mice. In B6 mice, the prenatal stress conditions increased grooming behavior. In addition, male BTBR mice exposed to prenatal stress and fluoxetine along with female BTBR mice prenatally exposed to fluoxetine were impaired on reversal learning. The prenatal manipulations had no effect on anxiety in either mouse strain. The pattern of results suggest that prenatal exposure to stress and/or a SSRI have long-term effects on autism-like behaviors and may contribute to the heterogeneity and co-morbidity observed in autism.
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3. Brown CR, Foster JD. Modulation of autism-associated serotonin transporters by palmitoylation: Insights into the molecular pathogenesis and targeted therapies for autism spectrum disorder. bioRxiv;2025 (Mar 13)
BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder of the nervous system characterized by a deficiency in interpersonal communication skills, a pathologic tendency for repetitive behaviors, and highly restrictive interests. The spectrum is a gradient-based construct used to categorize the widely varying degrees of ASD phenotypes, and has been linked to a genetic etiology in 25% of cases. Prior studies have revealed that 30% of ASD patients exhibit hyperserotonemia, or elevated whole blood serotonin, implicating the serotonergic system in the pathogenesis of ASD. Likewise, escitalopram, a selective-serotonin reuptake inhibitor (SSRI), has been demonstrated to improve aberrant behavior and irritability in ASD patients, potentially by modulating abnormal brain activation. Prior studies have uncovered proband patients with rare mutations in the human serotonin transporter (hSERT) that manifest enhanced surface expression and transport capacity, suggesting that abnormal enhancement of hSERT function may be involved in the pathogenesis of ASD. METHODS: HEK-293 cells stably expressing WT, C109A, I425L, F465L, L550V, or K605N hSERT were subject to analysis for palmitoylation via Acyl-Biotin Exchange followed with hSERT immunoblotting. F465L functional enhancement was confirmed by surface analysis via biotinylation and saturation analysis via 5HT transport. F465L palmitoylation, surface expression and transport capacity were then assessed following treatment with 2-bromopalmitate or escitalopram. RESULTS: Here, we reveal that palmitoylation is enhanced in the ASD hSERT F465L and L550V coding variants, and confirm prior reports of enhanced kinetic activity and surface expression of F465L. Subsequently, treatment of F465L with the irreversible palmitoyl acyl-transferase inhibitor, 2-bromopalmitate (2BP), or escitalopram, rectified enhanced F465L palmitoylation, surface expression, and transport capacity to basal WT levels. LIMITATIONS: Tests assessing L550V for surface expression, transport capacity, and reactivity to inhibition of palmitoylation was not assessed. In addition, further characterization is necessary for internalization rates, degradative mechanisms, the impact of cysteine-mediated substitutions, and other SSRIs on these processes. CONCLUSIONS: Overall, our results implicate disordered hSERT palmitoylation in the pathogenesis of serotonergic ASD subtypes, with basal recovery of these processes following escitalopram providing insight into its molecular utility as an ASD therapeutic.
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4. Faisal NV, Krishnaswamy S, Chopra N, Mukherjee A, Ramakrishnan S, Yadav M, Agstam S. The enigma of late-onset cyanosis: uncovering an unexpected twist after ASD closure with bubble contrast echocardiography. J Echocardiogr;2025 (Mar 31)
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5. Fu S, Wynshaw-Boris A. Autism risk genes converge on PBX1 to govern neural cell growth. bioRxiv;2025 (Mar 13)
The alteration of neural progenitor cell (NPC) proliferation underlies autism spectrum disorders (ASD). It remains unclear whether targeting convergent downstream targets among mutations from different genes and individuals can rescue this alteration. We identified PBX1 as a convergent target of three autism risk genes: CTNNB1 , PTEN , and DVL3 , using isogenic iPSC-derived 2D NPCs. Overexpression of the PBX1a isoform effectively rescued increased NPC proliferation in all three isogenic ASD-related variants. Dysregulation of PBX1 in NPCs was further confirmed in publicly available datasets from other models of ASD. These findings spotlight PBX1 , known to play important roles during olfactory bulb/adult neurogenesis and in multiple cancers, as an unexpected and key downstream target, influencing NPC proliferation in ASD and neurodevelopmental syndromes.
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6. Manenti M, Prévost P, Houy-Durand E, Bonnet-Brilhault F, Ferré S. Facing phonological complexity as an autistic adult: An exploratory study. Autism Dev Lang Impair;2025 (Jan-Dec);10:23969415251322751.
BACKGROUND AND AIMS: While it has been suggested that phonology is relatively spared in autism, some studies have shown that many autistic children and adolescents exhibit severe phonological impairment, of which syllabic complexity is a reliable index. However, although autism is a lifelong disorder, no such evidence exists for adults. The aim of the present study is to bridge this knowledge gap by investigating how autistic adults deal with phonological complexity. METHOD: Phonological abilities were assessed in 48 autistic adults aged 18 to 56 years and 50 controls matched on age and sex/gender. A linguistically motivated Nonword Repetition (NWR) task manipulating syllabic complexity, LITMUS-QU(Quasi Universal)-FR(ench)-NWR-Adults, was used to distinguish participants with and without a phonological impairment. In addition to the NWR task, additional tests were conducted to examine potential factors influencing phonological performance. These measures included morphosyntax, vocabulary, nonverbal IQ (NVIQ), short-term memory, working memory, and autism severity, providing a comprehensive understanding of variables affecting phonological abilities in autistic adults. RESULTS: Global performance on NWR was significantly lower and spanned a wider range in the autism group than that in the control group. By looking at individual results across the structures and substructures included in NWR, which presented varying degrees of syllabic complexity, it was possible to uncover great variability among autistic individuals with a phonologicalimpairment. Phonological proficiency appeared to be related to morphosyntax rather than to lexical knowledge and nonverbal cognition, including memory. Moreover, phonological skills did not correlate with autism severity. CONCLUSIONS: This study represents a first step towards understanding how to characterize phonological skills in autistic adults. Our findings indicate that syllabic complexity prompts diverse behaviors among autistic individuals with impaired phonology. Further research is required to gain insight into the cause(s) underlying the detected difficulties.
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7. Matthews NL, Mitchell MM, Honda H, Malligo A, Boyd S, Pagni BA, Blair Braden B. Pilot randomized controlled trial of MINDful TIME, a novel telehealth mindfulness-based intervention for autistic adolescents and their caregivers. Autism;2025 (Mar 31):13623613251328484.
A growing body of research suggests that mindfulness-based interventions may be a valuable method for reducing internalizing symptoms in autistic individuals. The current study extends this work using an effectiveness-implementation hybrid type 1 study. In this parallel randomized controlled trial, we examined a novel telehealth intervention for autistic adolescents and their caregivers. MINDful TIME includes eight weekly group meetings and regular use of a commercially available mindfulness meditation app. Participants were 42 adolescent-parent dyads randomized to the treatment or delayed treatment control (DTC) group. The program was implemented with fidelity (91.24%-94.78%), and 90% of treatment group dyads completed the program. On average, participants attended >90% of sessions and reported high acceptability. Treatment group adolescents demonstrated statistically and clinically significant reductions in parent-reported depression symptoms relative to DTC (F(1, 34) = 7.31, p = 0.01, ηp2 = 0.18). Female adolescents in the treatment group showed significant reductions in parent-reported anxiety symptoms (F(1, 34) = 4.22, p = 0.05, ηp2 = 0.11). Exploratory analyses indicated treatment-related improvements in adolescent executive functioning, parent mindfulness and well-being, and adolescent-parent relationship dysfunction. Findings warrant future examination of MINDful TIME to address well-documented challenges with mental health in this population. This trial was registered on clinicaltrials.gov (NCT05685589).Lay abstractPrevious research studies have found that mindfulness (i.e. focused attention on, and acceptance of, the present moment) training programs can reduce stress, depression, and anxiety. However, more research is needed to understand whether mindfulness strategies are helpful for autistic teens. We examined a new telehealth intervention for autistic teens and their caregivers. MINDful TIME is an 8-week group program that meets weekly through Zoom meetings. Participants learn mindfulness strategies through didactic lessons and using a commercially available mindfulness meditation mobile app. We randomly assigned 42 teens (ages 13-18 years) with an autism diagnosis and their parents to complete MINDful TIME or an 8-week wait period before beginning the program. Ninety percent of teens and parents assigned to MINDful TIME completed the program and reported that they found the program to be acceptable. Teens who completed MINDful TIME showed large reductions in depression symptoms, whereas teens in the wait period group did not. Females who completed MINDful TIME also showed reductions in anxiety symptoms, whereas males who completed MINDful TIME and females and males in the wait period group did not. Parents who completed MINDful TIME with their teens showed increased mindfulness traits, well-being, and adolescent-parent relationship functioning. Findings suggest that MINDful TIME is a promising program that may improve accessibility of mindfulness strategies for autistic teens and their caregivers. Future research with a larger sample size is needed to fully understand the benefits of the program.
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8. Mobarakeh KA, Mahmoudi Z, Mousavi Z, Ataei Kachooei M, Adabi SB, Bahoo Sele Nabi S, Moradi M, Saeedirad Z, Mohammadi S, Yazdi SAN, Alhouei B, Ashouri Mirsadeghi N, Doaei S, Gholamalizadeh M. Autism Spectrum Disorder and Dietary Intake of Vitamin E. Neuropsychopharmacol Rep;2025 (Jun);45(2):e70011.
BACKGROUND: Autism Spectrum Disorder (ASD) is a complicated condition that affects brain development, possibly caused by genetics and environmental factors. Individuals with ASD manifest a lack of balance between pathways that cause oxidative stress and levels of anti-oxidant agents. However, the association between ASD and dietary intake of antioxidants, such as vitamin E, is not yet clear. OBJECTIVES: This study aimed to compare the dietary vitamin E intake in children with ASD and typically developing (TD) children. METHODS: Totally, 110 individuals with ASD from 5 to 15 years were selected as the case group and 110 TD children of the same age group were selected as the control group. The (GARS 2) was used to confirm the participants’ ASD diagnoses. The food frequency questionnaire (FFQ) was used for collecting the required information on the child’s diet. The Nutritionist IV software was used to evaluate the intake of different types of vitamin E. RESULT: A significantly lower intake of dietary vitamin E was observed in individuals with ASD relative to the control group (15.66 ± 12.72 vs. 28.60 ± 10.85 mg/day, p > 0.001). After adjusting for confounders such as age, gender, mother’s age, Body Mass Index (BMI), and diet, decreased vitamin E intake was associated with an increased risk of developing ASD (OR = 0.90, 95% CI: 0.85-0.94, p < 0.001). CONCLUSION: An increased intake of vitamin E may be associated with a decreased risk of ASD. Further research is required to confirm this finding.
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9. Shareef AA, Kheder AH, Albarzinji N, Karim KJ, Smail SW, Mahmood AA, Amin K. Oxidative markers and SOD variant: predictors of autism severity and susceptibility. Future Sci OA;2025 (Dec);11(1):2483628.
BACKGROUND: This study examines the relationship between oxidative stress, anti-oxidative markers, and the Ala16Val SOD2 polymorphism in children with autism spectrum disorder (ASD) to better understand ASD severity and susceptibility. MATERIAL AND METHODS: The study included 80 children (40 with ASD and 40 controls) from Erbil City, Iraq. RESULTS: Serum antioxidant markers, such as superoxide dismutase (SOD) and glutathione peroxidase (GPX), were significantly lower in ASD patients compared to controls (P = 0.036 and P < 0.001, respectively), while markers of oxidative damage, including malondialdehyde (MDA), nitric oxide (NO), and cytochrome C, were significantly elevated (P < 0.001). Regression analysis revealed reduced SOD and GPX activities were strongly associated with increased autism severity, as measured by the childhood autism rating scale (CARS), while elevated NO and cytochrome C levels also correlated positively with higher CARS scores. Although the Ala16Val SOD polymorphism was not significantly associated with ASD risk, logistic regression showed no connection between SOD genotypes and serum SOD levels. CONCLUSION: These findings suggest oxidative stress and impaired antioxidant defense play critical roles in ASD severity. This study explores the relationship between oxidative stress, antioxidant markers, and the Ala16Val SOD2 polymorphism in autism spectrum disorder (ASD). It involved 80 children (40 with ASD, 40 controls) from Erbil City, Iraq. Results showed significantly lower superoxide dismutase (SOD) and glutathione peroxidase (GPX) levels in ASD patients, with elevated oxidative damage markers, including malondialdehyde (MDA), nitric oxide (NO), and cytochrome C. Regression analysis linked reduced SOD and GPX levels and increased NO and cytochrome C levels with higher Childhood Autism Rating Scale (CARS) scores. While the SOD2 polymorphism was not associated with ASD risk, oxidative stress strongly influenced ASD severity. eng
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10. Tanne JH. Vaccine sceptic appointed to head vaccine autism study, as 10 000 staff cut from US health agency. Bmj;2025 (Mar 31);388:r642.
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11. Therrien MCS, Whalon K, Nunes D, Marti P, Sellers A. A Systematic review of AAC interventions using speech generating devices for autistic preschoolers. Augment Altern Commun;2025 (Mar 31):1-15.
Many autistic(1) children experience communication challenges. Augmentative and alternative communication (AAC) can function as a primary or supportive mode of communication, and interventions incorporating AAC have a positive impact on the communication skills of autistic children. This systematic review investigated intervention studies using speech generating devices to enhance the expressive language of autistic preschoolers. Specifically, research questions addressed the (a) expressive communication skills and functions; (b) instructional strategies; (c) impact of interventions; and (d) ecological validity of the included studies. After an extensive search process, twenty studies from 1998 to 2023 met the inclusion criteria. Study characteristics were extracted, social and ecological validity were evaluated, and results were described using effect sizes and visual analysis. The majority targeted requesting (n=14) and the remaining addressed communication acts across diverse functions (n=6). Eleven of the studies demonstrated moderate to strong effects. Most interventions were multicomponent, including a variety of strategies, with prompting being the most common. Fewer than half of the studies met the full criteria for ecological validity, and only seven measured social validity. Implications for the field are provided including a call to action for researchers to evaluate interventions to support communication across diverse functions.
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12. Wang J, Li J, Wang F, You Y. Exercise Intervention Influences on Sleep and Anxiety in Children with Autism Spectrum Disorder: A Meta-Analyses of Randomized Controlled Trials. Neuropediatrics;2025 (Mar 31)
Related issues, such as sleep disturbance, are also frequently reported by children with autism spectrum disorder (ASD). This study systematically reviewed the influences of exercise on sleep and anxiety in children with ASD.Search for eligible studies through four databases, and then proceed with screening. The inclusion criteria are as follows: 1) children with ASD; 2) age 3 to 14 years; 3) randomized controlled trial (RCT); 4) the intervention group received exercise training; 5) conducted pre-and posttest, which includes sleep and anxiety. Use the Cochrane bias risk assessment tool to evaluate the quality of the selected study. Select standardized mean difference (SMD) as the appropriate effect scale index, and use Revman 5.4 software to analyze the mean difference of the selected article data.A total of seven studies fulfilled the inclusion criteria and were selected for the meta-analysis. The included studies involved 387 males and 79 females. The results demonstrated that the EXP group benefited from improved sleep (SMD, -1.05 [-1.25, -0.85], p < 0.05, I(2) = 27%, p for heterogeneity = 0.22) and anxiety (SMD, -1.14 [-1.56, -0.72], p < 0.05, I(2) = 95%, p for heterogeneity < 0.01) than the CON group.According to the findings, physical activities could offer nonpharmacological interventions for improving sleep and anxiety in children diagnosed with ASD. Sports training could also be considered to promote the rehabilitation of children patients with ASD, which might provide valuable insights.
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13. Weerkamp PMM, Voermans M, Finders M, Brouwers A, Collin P, Klinkenberg S, Hendriksen JGM. Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD. Front Pediatr;2025;13:1525365.
This case report describes initiation of Nocturnal Non-Invasive Ventilation in home settings for two adolescents with Duchenne Muscular Dystrophy and different neuropsychiatric and neurocognitive comorbidities: one has Autism Spectrum Disorder, and the other has Attention Deficit Hyperactivity Disorder, obsessive thinking and anxiety. This report emphasizes the need for a multidisciplinary team approach, incorporating medical, psychological and psychopharmacological interventions for successful Non-Invasive Ventilation implementation. Challenges include recognition of neuropsychiatric and neurocognitive comorbidities often seen in Duchenne Muscular Dystrophy. Lessons learned from these cases underscore the importance of: coordinated multidisciplinary efforts, early advanced care planning, accurate psychoeducation, cautious psychopharmacological interventions, and parental and patient involvement. To our knowledge, this is the first case report describing implementing Nocturnal Non-Invasive Ventilation in home settings in adolescents with Duchenne Muscular Dystrophy and neuropsychiatric and neurocognitive comorbidities. In conclusion, implementation at home can be successful and become a realistic target for each individual with Duchenne Muscular dystrophy.
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14. Widjaja ES, Spackman EK, Bainbridge TF, Ludeke SG, Uljarevic M, Hudry K, Smillie LD. The Utility of the Five Factor Model of Personality as an Organizing Framework for Autism-Related Traits. Assessment;2025 (Mar 31):10731911251326395.
Growing research suggests that clinical psychological traits are contiguous with normal personality and can be located within the same psychometric frameworks. In this article, we examined whether autism-related traits (ARTs) can plausibly be located within the Five Factor Model (FFM) of personality. Across two studies (Ns = 408 and 423), participants completed measures of ARTs, broad FFM domains, and narrower FFM facets. We used empirically derived criteria to evaluate whether ARTs overlapped (i.e., shared variance) with the FFM domains to a degree that was comparable to FFM facets. Results suggested that most socially oriented ARTs could be represented as facets of the extraversion domain, whereas behaviorally oriented ARTs were more peripheral to the FFM. Cognitively oriented ARTs were less consistently linked with the FFM. These findings highlight the value of the FFM as an organizing framework for ARTs, marking an important step toward synthesis across the personality and autism literatures.
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15. Wright K, McNally K. Manufacturing an « Autism Crisis »: Critical Reflections on the Kennedy Hearings and a Call for Disability Justice in Social Work. J Evid Based Soc Work (2019);2025 (Mar 30):1-6.
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16. Zhou Y, Duan P, Du Y, Dvornek NC. Self-Supervised Pre-training Tasks for an fMRI Time-series Transformer in Autism Detection. Mach Learn Clin Neuroimaging (2024);2025;15266:145-154.
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that encompasses a wide variety of symptoms and degrees of impairment, which makes the diagnosis and treatment challenging. Functional magnetic resonance imaging (fMRI) has been extensively used to study brain activity in ASD, and machine learning methods have been applied to analyze resting state fMRI (rs-fMRI) data. However, fewer studies have explored the recent transformer-based models on rs-fMRI data. Given the superiority of transformer models in capturing long-range dependencies in sequence data, we have developed a transformer-based self-supervised framework that directly analyzes time-series fMRI data without computing functional connectivity. To address over-fitting in small datasets and enhance the model performance, we propose self-supervised pre-training tasks to reconstruct the randomly masked fMRI time-series data, investigating the effects of various masking strategies. We then fine-tune the model for the ASD classification task and evaluate it using two public datasets and five-fold cross-validation with different amounts of training data. The experiments show that randomly masking entire ROIs gives better model performance than randomly masking time points in the pre-training step, resulting in an average improvement of 10.8% for AUC and 9.3% for subject accuracy compared with the transformer model trained from scratch across different levels of training data availability. Our code is available on GitHub .