1. Agrawal S, Rath C, Rao S, Whitehouse A, Patole S. Critical Appraisal of Systematic Reviews Assessing Gut Microbiota and Effect of Probiotic Supplementation in Children with ASD-An Umbrella Review. Microorganisms;2025 (Feb 27);13(3)

Given the significance of gut microbiota in autism spectrum disorder (ASD), we aimed to assess the quality of systematic reviews (SRs) of studies assessing gut microbiota and effects of probiotic supplementation in children with ASD. PubMed, EMBASE, PsycINFO, Medline, and Cochrane databases were searched from inception to November 2024. We included SRs of randomised or non-randomized studies reporting on gut microbiota or effects of probiotics in children with ASD. A total of 48 SRs (probiotics: 21, gut microbiota: 27) were included. The median (IQR) number of studies and participants was 7 (5) and 328 (362), respectively, for SRs of probiotic intervention studies and 18 (18) and 1083 (1201), respectively, for SRs of gut microbiota studies in children with ASD. The quality of included SRs was low (probiotics: 12, gut microbiota: 14) to critically low (probiotics: 9, gut microbiota: 13) due to lack of reporting of critical items including prior registration, deviation from protocol, and risk of bias assessment of included studies. Assuring robust methodology and reporting of future studies is important for generating robust evidence in this field.

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2. Aydin A, Yildirim A. Assessing the impact of Transcranial Direct Current Stimulation (tDCS) over the dorsolateral prefrontal cortex on social communication in children and adolescents with Autism Spectrum Disorder (ASD). Res Dev Disabil;2025 (Mar 25);161:104958.

INTRODUCTION: Autism Spectrum Disorder (ASD) is characterized by persistent difficulties in social communication and behavior regulation. Although behavioral and pharmacological interventions exist, many yield limited improvements in these core areas. Transcranial Direct Current Stimulation (tDCS), a non-invasive neuromodulation technique, has shown potential for enhancing social and cognitive functions in individuals with ASD. This study evaluated the impact of tDCS, applied over the Dorsolateral Prefrontal Cortex (DLPFC), on social communication and behavioral outcomes in children and adolescents with ASD. MATERIALS AND METHODS: Two hundred sixty-five participants (3-18 years) with clinically confirmed ASD diagnoses (including ADOS-2 assessments) received a four-week course of tDCS over the DLPFC. Outcome measures included the Social Responsiveness Scale (SRS-2), the Autism Diagnostic Observation Schedule (ADOS-2), and the Aberrant Behavior Checklist (ABC). Family perceptions were explored through semi-structured interviews. Quantitative data were analyzed using paired t-tests and ANOVA, and qualitative data were examined via thematic analysis. No sham or control group was included. RESULTS: Participants exhibited significant improvements in verbal and non-verbal communication (e.g., vocabulary, eye contact, gesture use), as well as reductions in repetitive behaviors and emotional dysregulation. Families reported decreased parental stress and enhanced family interactions, underscoring the intervention’s feasibility and acceptability. CONCLUSION: tDCS over the DLPFC shows promise as an adjunctive intervention to improve social communication and behavioral outcomes in children and adolescents with ASD. However, the absence of a control group and the short duration of follow-up limit causal inferences. Further randomized, controlled, and longitudinal studies are needed to confirm these preliminary findings and determine their long-term clinical relevance.

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3. Baeza-Velasco C, Vergne J, Poli M, Kalisch L, Calati R. Autism in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers-Danlos syndromes: A systematic review and prevalence meta-analyses. Autism;2025 (Mar 27):13623613251328059.

Increasing research suggests a link between autism spectrum disorders and joint hypermobility, hypermobility spectrum disorders, and Ehlers-Danlos syndromes. However, no study systematically examined the available literature about the relationship between these conditions. A systematic literature search was conducted to identify studies (a) examining the link between autism, joint hypermobility, hypermobility spectrum disorders or Ehlers-Danlos syndrome, and (b) reporting the frequency of autism spectrum disorders in people with joint hypermobility, hypermobility spectrum disorders or Ehlers-Danlos syndrome, or vice versa. Prevalence meta-analyses were performed. Twenty articles met the inclusion criteria. Twelve studies explored joint hypermobility/hypermobility spectrum disorders/Ehlers-Danlos syndrome in autistic people. Six explored autism spectrum disorders/autistic traits in people with hypermobility spectrum disorders/Ehlers-Danlos syndrome. Two studies examined autism spectrum disorders in relatives of patients with hypermobility spectrum disorders/Ehlers-Danlos syndrome, and two explored autistic traits and joint hypermobility in non-clinical samples. Out of 15 studies examining the association between autism spectrum disorders/autistic traits and joint hypermobility/hypermobility spectrum disorders/Ehlers-Danlos syndrome, 12 reported significant results. The overall prevalence of joint hypermobility in autistic individuals was 22.3%, but it was higher (31%) when only studies assessing joint hypermobility clinically (excluding self-reports) were considered. The overall prevalence of hypermobility spectrum disorders/Ehlers-Danlos syndrome in autistic samples was 27.9%, but 39% if hypermobility spectrum disorders/Ehlers-Danlos syndrome were assessed clinically. Despite the heterogeneity of studies, these results suggest an association between autism and joint hypermobility/hypermobility spectrum disorders/Ehlers-Danlos syndrome that should be confirmed in further research.Lay abstractIncreasing research suggests a link between autism spectrum disorders (ASD) and joint hypermobility (JH), hypermobility spectrum disorders (HSD), and Ehlers-Danlos syndromes (EDS). However, no study systematically examined the available literature about the relationship between these conditions. To fill this gap, we conducted a systematic literature search to identify studies: (a) examining the link between autism, JH, HSD, or EDS, and (b) reporting the frequency of ASD in people with JH, HSD, or EDS, or vice versa. Prevalence meta-analyses were performed. Twenty articles met the inclusion criteria. Twelve studies explored JH/HSD/EDS in autistic people. Six explored ASD/autistic traits in people with HSD/EDS. Two studies examined ASD in relatives of patients with HSD/EDS, and two explored autistic traits and JH in non-clinical samples. Out of 15 studies examining the association between ASD/autistic traits and JH/HSD/EDS, 12 reported significant results. The overall prevalence of JH in autistic individuals was 22.3%, but it was higher (31%) when only studies assessing JH clinically (excluding self-reports) were considered. The overall prevalence of HSD/EDS in autistic samples was 27.9%, but 39% if HSD/EDS were assessed clinically. Despite the heterogeneity of studies, these results suggest an association between autism and JH/HSD/EDS that should be confirmed in further research.

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4. Bjørklund G, Oleshchuk O, Ivankiv Y, Venger O, Liuta O, Mocherniuk K, Lukanyuk M, Shanaida M. Melatonin Interventions in Autism Spectrum Disorder: Sleep Regulation, Behavioral Outcomes, and Challenges Across the Lifespan. Mol Neurobiol;2025 (Mar 26)

Autism spectrum disorder (ASD) poses complex challenges affecting social interaction, communication, and behavior, necessitating comprehensive and tailored interventions. Sleep disturbances, prevalent in up to 80% of individuals with ASD, significantly impact well-being. Central to circadian rhythms, melatonin emerges as a promising intervention, primarily recognized for its role in sleep regulation. This review explores melatonin’s multifactor impact on ASD, covering sleep regulation, behavioral outcomes, neuroprotection, and potential synergies with other therapies. Melatonin exhibits promise in ameliorating sleep disturbances and enhancing overall well-being, with implications for social behaviors, communication, and repetitive behaviors. Its antioxidant and anti-inflammatory properties further suggest potential neuroprotective benefits. Future research directions focus on mechanistic insights, individualized medicine, and real-world effectiveness. As melatonin’s versatile role unfolds, it stands as a valuable component in the personalized care of individuals navigating the complexities of ASD.

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5. Buehler R, Potocar L, Mikus N, Silani G. Autistic traits relate to reduced reward sensitivity in learning from point-light displays (PLDs). R Soc Open Sci;2025 (Mar);12(3):241349.

A number of studies have linked autistic traits to difficulties in learning from social (versus non-social) stimuli. However, these stimuli are often difficult to match on low-level visual properties, which is especially important given the impact of autistic traits on sensory processing. Additionally, studies often fail to account for dissociable aspects of the learning process in the specification of model parameters (learning rates and reward sensitivity). Here, we investigate whether learning deficits in individuals with high autistic traits exhibit deficits when learning from facial point-light displays (PLDs) depicting emotional expressions. Social and non-social stimuli were created from random arrangements of the same number of point-lights and carefully matched on low-level visual properties. Neurotypical participants (N = 63) were assessed using the autism spectrum quotient (AQ) and completed a total of 96 trials in a reinforcement learning task. Although linear multi-level modelling did not indicate learning deficits, pre-registered computational modelling using a Rescorla-Wagner framework revealed that higher autistic traits were associated with reduced reward sensitivity in the win domain, demonstrating an attenuated response to received feedback during learning. These findings suggest that autistic traits can significantly impact learning from PLD feedback beyond a general deficit in learning rates.

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6. Ciranna L, Costa L. Therapeutic Effects of Pharmacological Modulation of Serotonin Brain System in Human Patients and Animal Models of Fragile X Syndrome. Int J Mol Sci;2025 (Mar 11);26(6)

The brain serotonin (5-HT) system modulates glutamatergic and GABAergic transmission in almost every brain area, crucially regulating mood, food intake, body temperature, pain, hormone secretion, learning and memory. Previous studies suggest a disruption of the brain 5-HT system in Fragile X Syndrome, with abnormal activity of the 5-HT transporter leading to altered 5-HT brain levels. We provide an update on therapeutic effects exerted by drugs modulating serotonergic transmission on Fragile X patients and animal models. The enhancement of serotonergic transmission using Selective Serotonin Reuptake Inhibitors (SSRIs) corrected mood disorders and language deficits in Fragile X patients. In Fmr1 KO mice, a model of Fragile X Syndrome, selective 5-HT(7) receptor agonists rescued synaptic plasticity, memory and stereotyped behavior. In addition, drugs specifically acting on 5-HT(1A), 5-HT(2) and 5-HT(5) receptor subtypes were able to correct, respectively, epilepsy, learning deficits and hyperactivity in different Fragile X animal models. In conclusion, the SSRI treatment of Fragile X patients improves mood and language; in parallel, studies on animal models suggest that compounds selectively acting on distinct 5-HT receptor subtypes might provide a targeted correction of other Fragile X phenotypes, and thus should be further tested in clinical trials for future therapy.

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7. Dell’Osso L, Bonelli C, Giovannoni F, Poli F, Anastasio L, Cerofolini G, Nardi B, Cremone IM, Pini S, Carpita B. Available Treatments for Autism Spectrum Disorder: From Old Strategies to New Options. Pharmaceuticals (Basel);2025 (Feb 25);18(3)

Autism spectrum disorder (ASD) is a condition that is gaining increasing interest in research and clinical fields. Due to the improvement of screening programs and diagnostic procedures, an increasing number of cases are reaching clinical attention. Despite this, the available pharmacological options for treating ASD-related symptoms are still very limited, and while a wide number of studies are focused on children or adolescents, there is a need to increase research about the treatment of ASD in adult subjects. Given this framework, this work aims to review the available literature about pharmacological treatments for ASD, from older strategies to possible new therapeutic targets for this condition, which are often poorly responsive to available resources. The literature, besides confirming the efficacy of the approved drugs for ASD, shows a lack of adequate research for several psychopharmacological treatments despite possible promising results that need to be further investigated.

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8. Edmunds SR, Tagavi DM, Harker CM, DesChamps T, Stone WL. Quality of life in caregivers of toddlers with autism features. Res Dev Disabil;2025 (Mar 27);161:104999.

Understanding factors that contribute to the quality of life (QoL) of primary caregivers of young autistic children can help researchers and clinicians provide high-quality support to caregivers and families. This study examined whether family demographic factors, parenting stress, and caregivers’ perceptions of family-centered healthcare experiences uniquely predict caregivers’ QoL. Participants were caregivers of toddlers with: features of autism (n = 119), other developmental delays (n = 101), and no developmental concerns (n = 264). We hypothesized that higher levels of perceived family-centered care would moderate (ameliorate) the relation between parenting stress and QoL. Higher levels of perceived family-centered care were associated with higher QoL for all groups but did not moderate the negative relation between parenting stress and QoL. Negative effects of parenting stress on QoL were stronger for caregivers of children with autism features compared to other groups. Future research is needed to determine how to provide additional support to caregivers with lower QoL, particularly caregivers who are experiencing income- or parenting-related stress and lower levels of family-centered care. Caregiver QoL is especially important to support across service settings (e.g., primary care, early intervention) during the birth-to-three period, when the process of accessing autism services can be challenging for caregivers.

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9. Grumstrup B, Demchak MA. Food-Related Interventions in Schools for Students With Significant Disabilities: A Systematic Review and Analysis. Intellect Dev Disabil;2025 (Apr 1);63(2):165-180.

The purpose of this systematic review was to summarize research to date on school-based, food-related interventions (e.g., cooking, grocery shopping, food-related literacy, eating behavior) for students with intellectual and developmental disabilities (IDD). The second purpose was to evaluate the quality of eligible studies according to the design criteria of What Works Clearinghouse (WWC; 2020). Two levels of review took place: the first to establish eligibility for inclusion and the second to evaluate studies for research design criteria. Twenty-seven studies were evaluated, with five meeting WWC standards with or without reservations. The percentage of criteria met in each study ranged from 0 to 100 percent. Research needs and quality for the above outcomes in this population are discussed.

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10. Gunderson J, Worthley E, Byiers B, Merbler A, Huebner A, Hofschulte D, Lee J, Riodique C, Symons F. Modifying quantitative sensory testing to investigate tactile sensory function and behavioral reactivity in children with intellectual and developmental disabilities: establishing feasibility and testing sex, autism, and self-injury effects. J Neurodev Disord;2025 (Mar 27);17(1):15.

BACKGROUND: Sensory reactivity differences are common across neurodevelopmental disorders (NDDs), however very few studies specifically examine tactile or pain responses in children with NNDs, especially those with communication challenges. The current study aimed to (a) replicate the feasibility of a modified quantitative sensory test (mQST) with a sample of children with NDDs, (b) assess validity evidence based on behavioral reactivity during mQST application and the corresponding behavioral measurement coding system, and (c) explore group differences in behavioral reactivity to mQST stimuli by demographic (sex), clinical (autism status), and behavioral pathology (self-injury) variables. METHODS: The mQST protocol was implemented and blindly coded across 47 participants aged 2-12 years (M age = 6.7 years, SD = 2.6; 70% male) with NDDs. Feasibility was measured by completion of the mQST protocol and interobserver agreement. Validity was assessed using paired t-tests investigating differences between behavioral reactivity to active stimuli compared to a sham trial. Boxplots were used to visually explore differences in group characteristics (sex, autism status, and self-injurious behavior), with two-sample t-tests used to further characterize differences in SIB group characteristics in behavioral reactivity to mQST stimuli. RESULTS: The mQST provided codable data across 91% of stimuli applications with high IOA (84.7% [76.7-95%]). Behavioral reactivity was significantly higher for active vs. sham stimuli. Children reported to engage in self-injurious behavior showed significantly more reactivity to the second half of the repeated von Frey stimulus application compared to children without caregiver-reported self-injurious behavior (M = 6.14, SD = 3.44), t (40)= -2.247, p =.04). CONCLUSION: The mQST is a feasible approach to investigate tactile reactivity in children with NDDs and complex communication needs. The mQST may be useful in understanding sensory variables in relation to developmental and behavioral outcomes such as self-injurious behavior.

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11. Gutierrez J, Ramos AK. A Brief Report of Self-Care Practices and Respite Use Among Hispanic/Latina Mothers of Children with Developmental Disabilities. Matern Child Health J;2025 (Mar 26)

INTRODUCTION: Caring for a child with disabilities is challenging and sometimes overwhelming. Self-care and use of respite services can be important strategies for caregivers to relieve stress, prevent burnout, and reduce the risk of poor physical and mental health. Little is known about the use of self-care and respite care services among Hispanic/Latino caregivers of children with developmental disabilities. OBJECTIVES: The purpose of this study was to identify: (1) if Hispanic/Latina mothers of children with developmental disabilities in Nebraska practiced self-care or used respite support services, (2) what types of self-care practices were used, and (3) what if anything prevented these mothers from practicing self-care or using respite services. METHODS: A total of 75 Hispanic/Latina mothers were interviewed between August-September 2022. RESULTS: We found that 73.3% of participants reported practicing self-care, but even more (80%) reported engaging in specific self-care activities. Participants who were living in the United States without legal permission were significantly less likely to report practicing self-care compared to those who were U.S. citizens, residents, or were in process for residency (38.2% vs. 61.8%), p = .02. Only 6.8% of participants reported using respite services. Of those who did not use respite services, 60% reported that they did not know about such services. CONCLUSIONS FOR PRACTICE: Promoting the availability of supportive resources for caregivers in culturally, linguistically, and contextually relevant formats (especially those that are available regardless of immigration status) could be valuable. Institutionalizing caregiver navigation programs and addressing cultural and structural barriers to respite service uptake could have positive benefits for caregivers of children with disabilities.

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12. Hankus M, Ochman-Pasierbek P, Brzozowska M, Striano P, Paprocka J. Electroencephalography in Autism Spectrum Disorder. J Clin Med;2025 (Mar 11);14(6)

Background/Objectives: Electroencephalography (EEG) has been widely used to differentiate individuals with autism spectrum disorder (ASD) and co-occurring conditions, particularly epilepsy. However, the relationship between EEG abnormalities and core features of ASD remains unclear. This study reviews the potential impact of EEG findings on the development, behavior, sleep, and seizure occurrence in ASD patients. Additionally, it evaluates whether routine EEG testing is warranted for all ASD patients, particularly in the absence of clinical seizures. Methods: A systematic review was conducted that covered literature published between 2014 and 2024. The review focused on EEG abnormalities, both epileptiform and non-epileptiform, in individuals with ASD. Studies were selected based on predefined inclusion criteria, emphasizing the prevalence, type, and clinical relevance of EEG findings. The analysis also included a critical assessment of whether EEG abnormalities correlate with specific ASD symptoms, such as cognitive impairment, speech delay, or behavioral issues. Results: EEG abnormalities were reported in 23-80% of ASD patients, indicating a broad range of findings. Despite their frequent occurrence, the evidence linking these abnormalities to specific clinical symptoms remains inconclusive. Some studies suggest an association between epileptiform patterns and more severe ASD traits, while others do not confirm this. Furthermore, the effectiveness of anticonvulsant treatment in children with EEG abnormalities and no seizures remains uncertain, with limited supporting data. Conclusions: Given the uncertain relationship between EEG findings and ASD symptoms, routine EEG testing for all children with ASD appears unnecessary. EEG should be considered primarily when epilepsy is clinically suspected.

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13. Hill Z, McCarty PJ, Boles RG, Frye RE. A Mitochondrial Supplement Improves Function and Mitochondrial Activity in Autism: A Double-Blind Placebo-Controlled Cross-Over Trial. Int J Mol Sci;2025 (Mar 10);26(6)

Autism spectrum disorder (ASD) is associated with mitochondrial dysfunction, but studies demonstrating the efficacy of treatments are scarce. We sought to determine whether a mitochondrial-targeted dietary supplement designed for children with ASD improved mitochondrial function and ASD symptomatology using a double-blind placebo-controlled cross-over design. Sixteen children [mean age 9 years 4 months; 88% male] with non-syndromic ASD and mitochondrial enzyme abnormalities, as measured by MitoSwab (Religen, Plymouth Meeting, PA, USA), received weight-adjusted SpectrumNeeds(®) (NeuroNeeds, Old Lyme, CT, USA) and QNeeds(®) (NeuroNeeds, Old Lyme, CT, USA) and placebos matched on taste, texture and appearance during two separate 12-week blocks. Which product was received first was randomized. The treatment significantly normalized citrate synthase and complex IV activity as measured by the MitoSwab. Mitochondrial respiration of peripheral blood mononuclear cell respiration, as measured by the Seahorse XFe96 (Agilent, Santa Clara, CA, USA) with the mitochondrial oxidative stress test, became more resilient to oxidative stress after the treatment, particularly in children with poor neurodevelopment. The mitochondrial supplement demonstrated significant improvement in standardized parent-rated scales in neurodevelopment, social withdrawal, and hyperactivity with large effect sizes (Cohen’s d’ = 0.77-1.25), while changes measured by the clinical and psychometric instruments were not significantly different. Adverse effects were minimal. This small study on children with ASD and mitochondrial abnormalities demonstrates that a simple, well-tolerated mitochondrial-targeted dietary supplement can improve mitochondrial physiology and ASD symptoms. Further larger controlled studies need to verify and extend these findings. These findings are significant as children with ASD have few other effective treatments.

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14. Hong Y, Lee K, Yoo N, Choi J, Kim Y. Reliability and Validity of the Korean Version of the Quantitative Checklist for Autism in Toddlers: A Comparison Study Between the Clinical and Community Population. Psychiatry Investig;2025 (Mar);22(3):231-242.

OBJECTIVE: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. METHODS: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. RESULTS: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. CONCLUSION: The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

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15. Jassim N, McCoy B, Yip EW, Allison C, Baron-Cohen S, Lawson RP. The « Tetris effect »: autistic and non-autistic people share an implicit drive for perceptual cohesion. Mol Autism;2025 (Mar 26);16(1):22.

BACKGROUND: When working on jigsaw puzzles, we mentally « combine » two pieces to form a composite image even before physically fitting them together. This happens when the separate pieces could logically create a cohesive picture and not when they are mismatched or incoherent. The capacity of the brain to combine individual elements to form possible wholes serves as the basis of perceptual organisation. This drive for perceptual cohesion-the « Tetris effect »-can be seen in the famous game, where people automatically perceive logical combinations from separate pieces. However, it is unclear how this presents in populations known to have perceptual differences, such as autistic people. Theories on the inclination to process local over global details in autism and autistic strengths in pattern recognition lead to conflicting predictions regarding the drive for perceptual cohesion in autistic compared to non-autistic people. METHODS: In this large-scale (n = 470) pre-registered online behavioural study, we aimed to replicate previous research conducted on neurotypical participants and to extend this work to autistic participants. We used two tasks with Tetris-style stimuli to examine how autistic (n = 196) and non-autistic (n = 274) adults implicitly perceive possible wholes from individual parts. Data were analysed using logistic mixed-effects regression models and hierarchical Signal Detection Theory modelling. RESULTS: Overall, we replicated the results from the original study in finding participants are more likely to perceive parts as wholes when there is the potential to form a whole, compared to when there is not. However, we found no differences between autistic and non-autistic participants across both tasks. LIMITATIONS: Although power calculations were carried out to assess sample sizes needed to detect a group difference, given the small effect size (Cohen’s d = 0.37) in the original study, it may be that any existing group differences are still undetectable with the current sample size. CONCLUSIONS: We conclude that the « Tetris effect » is ubiquitous and seen in both neurotypical and neurodiverse populations. Our findings challenge the deficit-focussed narrative often seen in the autism literature and highlight the similarities in task performance between autistic and non-autistic participants.

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16. Jertberg RM, Begeer S, Geurts HM, Chakrabarti B, Van der Burg E. Intact but Protracted Facial and Prosodic Emotion Recognition Among Autistic Adults. J Autism Dev Disord;2025 (Mar 27)

Despite extensive research efforts, it is unclear how autistic and non-autistic individuals compare in their ability to recognize emotions. Differences in demographic and task factors have been proposed as explanations for divergent findings, but limitations in samples and designs have obscured insight into this possibility. This study investigated the extent of emotion recognition differences among autistic adults and the influence of these factors upon them. We recruited a large sample of autistic and non-autistic adults (N = 1,239) spanning across adulthood (18-76 years). In three online experiments, we compared their performance in recognizing emotions from basic facial expressions, complex expressions conveyed by the eyes alone, and prosodic elements of speech. Autistic individuals performed as well as non-autistic ones in terms of recognition accuracy/sensitivity across measures and emotional categories but took longer to do so. We also detected comparable influences of age, estimated intelligence quotient, and gender (as well as task demands) on both groups. While autistic adults may differ in how they process emotional stimuli, they can do so effectively when given sufficient time. Accordingly, efforts to help autistic individuals improve their ability to recognize emotions may be more fruitful if they focus on efficiency over accuracy. Additionally, reaction time data may offer greater insight than accuracy into differences between autistic and non-autistic individuals on emotion recognition tasks. The similar effects of the demographic and task factors we analyzed on both groups suggest that explanations of the discrepancies in prior literature lie elsewhere.

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17. Jimenez DA, Walker A, Usdin K, Zhao X. Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders. Int J Mol Sci;2025 (Mar 15);26(6)

Fragile X-related disorders (FXDs) are caused by the expansion of a CGG repeat tract in the 5′-UTR of the FMR1 gene. The expansion mechanism is likely shared with the 45+ other human diseases resulting from repeat expansion, a process that has been shown to require key mismatch repair (MMR) factors. FANCJ, a DNA helicase involved in unwinding unusual DNA secondary structures, has been implicated in a number of DNA repair processes including MMR. To test the role of FANCJ in repeat expansion, we crossed FancJ-null mice to an FXD mouse model. We found that loss of FANCJ resulted in a trend towards more extensive expansion that was significant for the small intestine and male germline. This finding has interesting implications for the expansion mechanism and raises the possibility that other DNA helicases may be important modifiers of expansion risk in certain cell types.

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18. John AJ, Presnell J, Cavazos S, Lewright C. Exploring Media Portrayals of Individuals With Intellectual and Developmental Disabilities. Intellect Dev Disabil;2025 (Apr 1);63(2):87-104.

Considering past evidence highlighting the role of media portrayal in shaping community attitudes towards people with intellectual and developmental disabilities (IDD), we analyzed depictions of IDD in seven television shows and three movies. Characters with IDD were coded based on categories representing (a) their attributes (demographic, disability-related, and personality), (b) the salience of IDD and character with IDD, (c) treatment by other characters, and (d) quality of life. The majority of the characters were White and male, and persons with IDD played characters with visible disabilities. Characters with IDD were often bullied, but most were portrayed as having a strong support system and a good quality of life. Themes are discussed in the context of implications and methodological limitations.

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19. Kayvanpour E, Matzeit E, Reich C, Kaya Z, Pleger S, Frey N, Meder B, Sedaghat-Hamedani F. Efficacy and Safety of Percutaneous ASD Closure in Adults: Comparative Outcomes of Occluder Devices in a Single-Center Cohort. J Clin Med;2025 (Mar 10);14(6)

Background: Atrial septal defect (ASD) is a prevalent congenital heart condition, resulting in left-to-right shunting. Untreated ASDs may be associated with complications, including right-sided heart failure, pulmonary hypertension, and atrial arrhythmias. Percutaneous ASD closure, performed with various occluder devices, has become the preferred approach for symptomatic patients with suitable anatomy, yet data on device-specific efficacy and safety profiles remain limited. Methods: This study was a retrospective, single-center analysis involving patients who underwent percutaneous ASD closure between January 2000 and February 2023. Data on patient characteristics, indications for the procedure, procedural details, and clinical outcomes were extracted from electronic medical records. Endpoints included complications at the puncture site, pericardial effusion, atrial arrhythmias, device-related thrombus formation, and overall survival. Results: A total of 195 patients were included (mean age 53.6 ± 16.2 years; 60.5% female). Three different devices were used: Amplatzer ASD occluder (n = 111), Gore Septal Occluder (n = 67), and Occlutech ASD occluder (n = 17). Initial procedural success rate was 90.8%, with no significant differences observed between devices. Periprocedural complication rates were low and comparable across all devices. New-onset atrial fibrillation within the first month post-implantation occurred in 7.5% of patients with the Gore device, compared to 0.9% with the Amplatzer device (p = 0.03) and 0% with the Occlutech device. No statistically significant differences were observed among the devices regarding thrombus formation, late-onset pericardial effusion, device erosion, or stroke. Conclusions: Percutaneous ASD closure demonstrates high procedural success and low complication rates across different occluder devices, supporting its efficacy and safety as a treatment for adults. Although the Gore device showed a higher incidence of new-onset AF compared to the Amplatzer device, no significant differences were observed regarding thrombus formation, pericardial effusion, device erosion or stroke.

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20. Kim S, Jeon B. Inequities in cardiovascular risk and lifestyle factors among individuals with developmental disabilities: evidence from Korea’s national health screening program. Sci Rep;2025 (Mar 26);15(1):10463.

Significant gaps persist in the awareness and understanding of the health challenges faced by individuals with developmental disabilities. This study aims to examine health disparities among individuals with developmental disabilities in South Korea, focusing on cardiovascular risk factors, including obesity, hypertension, diabetes, and dyslipidemia, and lifestyle factors like physical activity, smoking, and drinking behaviors. We analyzed data from the National General Health Screening Program for 2019 and 2020, including a sample of 17,012 persons with disabilities and 5,623,993 persons without disabilities. We utilized propensity score matching (1:1) and multivariable logistic regression estimated outcomes. After matching, each group included 13,863 individuals with balanced baseline characteristics. Individuals with disability had higher risks of overall and abdominal obesity and lower risks of smoking and drinking. No significant differences were found in blood pressure and fasting blood sugar levels post-matching. In addition, individuals with disability showed lower risks of abnormal cholesterol, low-density lipoprotein cholesterol and triglyceride levels, but higher risks for abnormal high-density lipoprotein cholesterol levels and lower physical activity levels. These findings highlight the urgent need for targeted interventions to address obesity and promote physical activity, while also acknowledging the lower risks of smoking and drinking in individuals with developmental disabilities.

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21. Klila H, Giuliani F. [The mind without images : aphantasia and autism spectrum disorder, an invisible connection.]. Rev Med Suisse;2025 (Mar 26);21(911):618-621.

For people with aphantasia, the ability to form mental images is absent or markedly impaired. In this article, we define aphantasia and explore the links between mental imagery and autism spectrum disorder. Through our clinical experiences, we highlight the repercussions the impact of aphantasia on autism spectrum disorder functioning, share the specific challenges we face in psychotherapy and propose therapeutic approaches.

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22. Laroui A, Rojas D, Bouhour S, Proteau-Lemieux M, Galarneau L, Benachenhou S, Abolghasemi A, Plantefeve R, Mallet PL, Corbin F, Lepage JF, Çaku A. Associations between plasma 24(S)-Hydroxycholesterol and neuropsychological profile in Fragile X Syndrome. J Lipid Res;2025 (Mar 27):100787.

Fragile X Syndrome (FXS) is caused by mutations in the fragile X mental retardation 1 gene, characterized by low plasma cholesterol levels. Considering the essential role of brain cholesterol in signaling and synaptogenesis, it is important to screen for brain cholesterol abnormalities in FXS and explore their link with neuropsychological profiles. Brain cholesterol is synthesized in situ, and the excess is primarily converted to 24(S)-hydroxycholesterol (24(S)-OHC). 27-hydroxycholesterol (27-OHC) is the major cholesterol oxidation metabolite that crosses the blood-brain barrier from peripheral circulation into the brain Plasma levels of 24(S)-OHC and 27-OHC were quantified in FXS and control individuals. The FXS group underwent transcranial magnetic stimulation to evaluate corticospinal excitability and inhibition. The clinical profile was assessed using questionnaires evaluating specific symptoms related to autism, aberrant behaviors, and anxiety. Study results show a significant decrease in plasma levels of 24(S)-OHC in FXS as compared to controls (78.48 nM ± 20.90 vs 99.53 nM ± 32.30; p = 0.006). Moreover, a negative correlation was observed between plasma levels of 24(S)-OHC and Motor-Evoked Potential (r(s) = -0.57; p = 0.05) in FXS. Similarly, a negative correlation was also found between plasma levels of 24(S)-OHC and the total score of the Social Communication Questionnaire (r(s) = – 0.72; p = 0.002) and the Anxiety Depression and Mood Scale (r(s) = – 0.61; p = 0.02). The 24(S)-OHC is associated with specific neurophysiological and behavioral characteristics in individuals with FXS. Larger studies are warranted to confirm the potential of 24(S)-OHC as a reliable biomarker for FXS.

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23. Lau JCY, Guilfoyle J, Crawford S, Johnson G, Landau E, Xing J, Kumareswaran M, Ethridge S, Butler M, Goldman L, Martin GE, Zhou L, Krizman J, Nicol T, Kraus N, Berry-Kravis E, Losh M. Prosodic Differences in Women with the FMR1 Premutation: Subtle Expression of Autism-Related Phenotypes Through Speech. Int J Mol Sci;2025 (Mar 11);26(6)

Evidence suggests that carriers of FMR1 mutations (e.g., fragile X syndrome and the FMR1 premutation) may demonstrate specific phenotypic patterns shared with autism (AU), particularly in the domain of pragmatic language, which involves the use of language in social contexts. Such evidence may implicate FMR1, a high-confidence gene associated with AU, in components of the AU phenotype. Prosody (i.e., using intonation and rhythm in speech to express meaning) is a pragmatic feature widely impacted in AU. Prosodic differences have also been observed in unaffected relatives of autistic individuals and in those with fragile X syndrome, although prosody has not been extensively studied among FMR1 premutation carriers. This study investigated how FMR1 variability may specifically influence prosody by examining the prosodic characteristics and related neural processing of prosodic features in women carrying the FMR1 premutation (PM). In Study 1, acoustic measures of prosody (i.e., in intonation and rhythm) were examined in speech samples elicited from a semi-structured narrative task. Study 2 examined the neural frequency following response (FFR) as an index of speech prosodic processing. Findings revealed differences in the production of intonation and rhythm in PM carriers relative to controls, with patterns that parallel differences identified in parents of autistic individuals. No differences in neural processing of prosodic cues were found. Post hoc analyses further revealed associations between speech rhythm and FMR1 variation (number of CGG repeats) among PM carriers. Together, the results suggest that FMR1 may play a role in speech prosodic phenotypes, at least in speech production, contributing to a deeper understanding of AU-related speech and language phenotypes among FMR1 mutation carriers.

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24. Lee D, Kennedy J, Cothran DJ, Shih PC, Dickinson S, Golzarri-Arroyo L, Frey GC. Correlates of physical activity, sedentary time, and cardiovascular disease risk factors in autistic adults without intellectual disabilities. Res Dev Disabil;2025 (Mar 25);161:104980.

BACKGROUND: Emerging evidence indicates that autistic adults without intellectual disabilities (ID) are at elevated risk of developing cardiovascular disease (CVD). AIMS: This cross-sectional survey study aimed to assess the prevalence of physiological and mental health risk factors for CVD and examine how physical activity (PA) and sedentary time (ST) relate to CVD risk in autistic adults without ID. METHODS: An online self-report survey addressing PA, ST, and CVD risk factors was delivered to 229 autistic adults without ID aged 18-55 years. Participants were recruited via direct contact with autism advocacy organizations in the U.S. and autism support groups on social media. Binary logistic regression analyses were used to explain the impact of PA and ST on CVD risk factors. RESULTS: Higher ST was significantly associated with increased odds for high blood pressure, stroke, and mental health risk factors (depression, anxiety, bipolar, and obsessive-compulsive disorder; all p < 0.05). No significant associations were found between PA and CVD risk factors. CONCLUSIONS: Excessive ST in autistic adults without ID is associated with an increased risk for certain CVD factors, particularly those related to poor mental health. Health interventions should focus on breaking up prolonged sitting as a CVD prevention strategy in this population.

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25. Lee JE, Kim S, Park S, Choi H, Park BY, Park H. Atypical maturation of the functional connectome hierarchy in autism. Mol Autism;2025 (Mar 26);16(1):21.

BACKGROUND: Autism spectrum disorder (ASD) is marked by disruptions in low-level sensory processing and higher-order sociocognitive functions, suggesting a complex interplay between different brain regions across the cortical hierarchy. However, the developmental trajectory of this hierarchical organization in ASD remains underexplored. Herein, we investigated the maturational abnormalities in the cortical hierarchy among individuals with ASD. METHODS: Resting-state functional magnetic resonance imaging data from three large-scale datasets were analyzed: Autism Brain Imaging Data Exchange I and II and Lifespan Human Connectome Project Development (aged 5-22 years). The principal functional connectivity gradient representing cortical hierarchy was estimated using diffusion map embedding. By applying normative modeling with the generalized additive model for location, scale, and shape (GAMLSS), we captured the nonlinear trajectories of the developing functional gradient, as well as the individual-level deviations in ASD from typical development based on centile scores measured as deviations from the normative curves. A whole-brain summary metric, the functional hierarchy score, was derived to measure the extent of abnormal maturation in individuals with ASD. Finally, through a series of mediation analyses, we examined the potential role of network-level connectomic disruptions between the diagnoses and deviations in the cortical hierarchy. RESULTS: The maturation of cortical hierarchy in individuals with ASD followed a non-linear trajectory, showing delayed maturation during childhood compared to that of typically developing individuals, followed by an accelerated « catch-up » phase during adolescence and a subsequent decline in young adulthood. The nature of these deviations varied across networks, with sensory and attention networks displaying the most pronounced abnormalities in childhood, while higher-order networks, particularly the default mode network (DMN), remaining impaired from childhood to adolescence. Mediation analyses revealed that the persistent reduction in DMN segregation throughout development was a key contributor to the atypical development of cortical hierarchy in ASD. LIMITATIONS: The uneven distribution of samples across age groups, particularly in the later stages of development, limited our ability to fully capture developmental trajectories among older individuals. CONCLUSIONS: These findings highlight the importance of understanding the developmental trajectories of cortical organization in ASD, collectively suggesting that early interventions aimed at promoting the normative development of higher-order networks may be critical for improving outcomes in individuals with ASD.

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26. Lerner JE, Schiltz H, Schisterman N, Ziegler S, Lord C. What Factors Have Been the Most Helpful and Harmful and When? Identifying Key Impacts on Psychosocial Development According to Autistic Adults and Caregivers. J Autism Dev Disord;2025 (Mar 27)

Few studies have asked autistic adults and caregivers directly about what has most positively and negatively impacted their lives. This study sought to: (a) identify positive and negative factors experienced by autistic adults and caregivers; (b) test for within-subject differences in endorsement of promotive factors reported specific to four stages of development; and (c) test for differences in factors between adults with varying cognitive ability (i.e., less cognitively able [LCA; verbal IQ < 70] and more cognitively able [MCA; verbal IQ ≥ 70]). Participants included 91 autistic adults and caregivers. Autistic adults' VIQs ranged from 4 to 139. Participants completed a modified version of the Social/Emotional Functioning Interview which consists of open-ended questions about positive and negative factors experienced across development. Autistic adults and caregivers, regardless of cognitive abilities, frequently reported people supports as more helpful than specific services, aspects of education, or generative activities from early childhood through adulthood. For both cognitive groups, generative activities were increasingly important after childhood. Services were more frequently identified as helpful by LCA caregivers in adulthood, while education was reported more by MCA caregivers and autistic adults. Differences by cognitive ability in negative factors included that more LCA caregivers reported poorly prepared professionals/caregivers as disruptive, while more MCA caregivers and autistic adults reported family conflict and bullying. Positive and negative factors identified through interviews of lived experiences can inform targeted care based on strengths and needs across cognitive abilities and life stages.

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27. Li W, Bao C, Ye Y, Liu Q, Chu K, Wang Y, Ruan X, Lü H, Liu X, Ke X. Exploring Psychotropic Medication Use in Hospitalized Children With Autism Spectrum Disorder in China: The Role of Intellectual Disability. J Autism Dev Disord;2025 (Mar 27)

Children and adolescents with autism spectrum disorder (ASD) frequently present with mental health comorbidities and behavioral crises, necessitating inpatient care. However, evidence-based guidelines for psychotropic medication use in specialized inpatient settings remain limited, particularly in non-Western contexts. This study examined the clinical characteristics and prescribing patterns among 269 hospitalized ASD patients (2012-2023), with a focus on how intellectual disability (ID) influences medication decisions. A retrospective analysis was conducted using electronic medical records to assess mental disorders, behavioral challenges, and psychotropic medication use at discharge. Logistic regression analyses was performed to examine factors associated with medication prescribing patterns, including the impact of ID status. Psychotropic medication use was highly prevalent (96.7%), with antipsychotics (89.96%) being the most frequently prescribed class, followed by anxiolytics (35.32%) and antidepressants (33.09%). ID was significantly associated with distinct prescribing patterns: patients with ID had 63% lower odds of antidepressant use (aOR = 0.37, p = 0.001) and 80% lower odds of ADHD medication use (aOR = 0.20, p = 0.009), while being more likely to receive antipsychotics (aOR = 2.74, p = 0.049) and experience polypharmacy (aOR = 1.89, p = 0.028). Additionally, disruptive behaviors and age were key predictors of antipsychotic use, whereas suicidal thoughts/attempts or SIBs independently predicted antidepressant prescribing. These findings suggest that ID status plays a critical role in shaping psychotropic prescribing practices beyond symptom severity alone, potentially reflecting diagnostic overshadowing and safety concerns. Future research should focus on developing tailored clinical assessment tools and treatment protocols for ASD populations with and without ID, while enhancing individualized medication monitoring to optimize therapeutic outcomes.

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28. Li X, Huang W, Tan R, Xu C, Chen X, Zhang Q, Li S, Liu Y, Qiu H, Bi C, Cao H. The Current Research Landscape on the Machine Learning Application in Autism Spectrum Disorder: A Bibliometric Analysis From 1999 to 2023. Curr Neuropharmacol;2025 (Mar 25)

BACKGROUND: Language deficits, restricted and repetitive interests, and social difficulties are among the characteristics of autism spectrum disorder (ASD). Machine learning and neuroimaging have also been combined to examine ASD. Utilizing bibliometric analysis, this study examines the current state and hot topics in machine learning for ASD. OBJECTIVE: A research bibliometric analysis of the machine learning application in ASD trends, including research trends and the most popular topics, as well as proposed future directions for research. METHODS: From 1999 to 2023, the Web of Science Core Collection (WoSCC) was searched for publications relating to machine learning and ASD. Authors, articles, journals, institutions, and countries were characterized using Microsoft Excel 2021 and VOSviewer. Analysis of knowledge networks, collaborative maps, hotspots, and trends was conducted using VOSviewer and CiteSpace. RESULTS: A total of 1357 papers were identified between 1999 and 2023. There was a slow growth in publications until 2016; then, between 2017 and 2023, a sharp increase was recorded. Among the most important contributors to this field were the United States, China, India, and England. Among the top major research institutions with numerous publications were Stanford University, Harvard Medical School, the University of California, the University of Pennsylvania, and the Chinese Academy of Sciences. Wall, Dennis P. was the most productive and highest-cited author. Scientific Reports, Frontiers In Neuroscience Autism Research, and Frontiers In Psychiatry were the three productive journals. « autism spectrum disorder », « machine learning », « children », « classification » and « deep learning » are the central topics in this period. CONCLUSION: Cooperation and communication between countries/regions need to be enhanced in future research. A shift is taking place in the research hotspot from « Alzheimer’s Disease », « Mild Cognitive Impairment » and « cortex » to « artificial intelligence », « deep learning », « electroencephalography » and « pediatrics ». Crowdsourcing machine learning applications and electroencephalography for ASD diagnosis should be the future development direction. Future research about these hot topics would promote understanding in this field.

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29. Li Y, Wang Q, Yuan S, Lam TK, Guo K, Zhang YQ, Yi L. Reduced attention to human eyes in autism-associated Shank3 mutant laboratory beagle dogs. Mol Psychiatry;2025 (Mar 27)

Autistic individuals often exhibit reduced attention to faces and eyes, which may underlie their social difficulty. This study used eye-tracking techniques to explore visual attention towards faces in Shank3 mutant laboratory beagle dogs, a model for autism, to identify parallels with human autism. We first assessed visual attention differences towards the eyes between Shank3 mutant and wild-type (WT) laboratory beagles by presenting them with human and dog face images. Then, using the gaze cueing paradigm, we directed the dogs’ gaze towards the eyes and mouth and quantified their gaze shifts. Finally, we investigated the impact of oxytocin on eye-gaze behavior by comparing gaze patterns under pre-administration, vehicle, and oxytocin conditions while viewing human faces. We found that mutant dogs showed a reduced proportional viewing time of human eyes than WT dogs (p = 0.032), but no difference in proportional eye viewing time when viewing dog faces (p = 0.691). Mutant dogs shifted their gazes away from the human eyes more quickly than the mouth (p = 0.043), unlike WT dogs (p = 0.345), suggesting an active eye avoidance. Furthermore, exogenous oxytocin increased proportional viewing time on human eyes in mutant dogs than pre-administration and vehicle conditions (p = 0.022), suggesting a potential effect of oxytocin on social attention in autism. To our knowledge, this study is the first to report an eye avoidance phenotype in an animal model of autism. These findings contribute to our understanding of the mechanisms underlying social difficulties in autism and the development of supporting strategies for autism.

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30. Liani V, Torrents C, Rolleri E, Yusoff NA, Likhitweerawong N, Moore S, Tassone F, Schneider A, Santos E, Biag HMB, Bourgeois JA, Unruh KE, Mosconi MW, Hagerman RJ. Premutation Females with preFXTAS. Int J Mol Sci;2025 (Mar 20);26(6)

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial symptoms of FXTAS typically manifest in males around the age of 60 with motor symptoms and cognitive deficits, the presentation and progression in females differ. Women, in fact, exhibit a higher prevalence of neuropsychiatric symptoms, with an earlier onset compared to the motor symptoms observed in men. The following article reports on ten cases of women with a diagnosis of FMR1 gene premutation, originating from two medical centers. All the women in the study exhibited neuropsychiatric symptoms and subtle neurological signs as common features. Symptoms typically observed in the male population, such as tremors and cerebellar ataxia, were either absent or significantly reduced in the female cohort. Conversely, there was a higher prevalence of neuropsychiatric symptoms among the women. Neurocognitive impairment was only minimally evident, with mild executive dysfunction and memory complaints noted in a subset of cases. For this reason, we propose the terminology preFXTAS or prodromic FXTAS to define a clinical presentation in women characterized by early manifestations of FXTAS that do not entirely fulfill the established diagnostic criteria but exhibit MRI evidence of white matter alterations suggesting the initiation of the disease process. The study underscores the importance of establishing new diagnostic criteria for FXTAS and, at the same time, developing new biomarkers and interview checklists/assessment scales dedicated to females.

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31. McLeod JD, Anderson EM. Correction: Autistic Traits and College Adjustment. J Autism Dev Disord;2025 (Mar 26)

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32. Mohan R, Madiraju GS, Chieng CY, Almugla YM, Asiri FYI. Evaluation of Taste Acceptance of Three Different Fluoride Varnishes in Children with Autistic Spectrum Disorder: A Randomized Clinical Trial. J Clin Med;2025 (Mar 13);14(6)

Background/Objective: The taste perception of clinical materials used in dental treatment procedures can influence the compliance of autistic children during dental visits due to their heightened anxiety and sensory processing difficulties. This study aimed to evaluate the taste acceptance of different fluoride varnish preparations among children with autism spectrum disorder (ASD) in a clinical setting. Methods: This parallel-arm single-blinded randomized clinical study included autistic children aged 6-14 years, referred to a community dental clinic unit for preventive dental care. Non-verbal behavior, as a measure of taste acceptance, was assessed using the Frankl behavior rating scale. Additionally, subjective taste responses were recorded using a 3-point facial hedonic scale. Data were analyzed using descriptive statistics and the chi-square test. Results: There was no statistically significant difference in non-verbal behavior between the three fluoride varnish groups before application (p = 0.094) or immediately after application (p = 0.718). However, when comparing pre- and post-application responses within each group, Duraphat(®) showed a significant improvement in non-verbal behavior (p = 0.020), while no significant changes were observed for Profluorid(®) (p = 0.196) or MI Varnish(®) (p = 0.704). Subjective taste acceptance, as measured by the 3-point facial hedonic scale, showed no significant differences among the varnish groups (p = 0.406). Conclusions: Flavored fluoride varnishes may improve the compliance of autistic children with preventive oral care procedures. Although no significant differences in taste acceptance were observed among the three varnishes, Duraphat(®) was associated with a significant improvement in non-verbal positive behavior, suggesting a more favorable response in autistic children.

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33. Pallarès-Sastre M, Amayra I, Pulido R, Nunes-Xavier CE, Bañuelos S, Cavaliere F, García M. Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy. J Intellect Disabil Res;2025 (Mar 27)

BACKGROUND: The CTNNB1 syndrome is a neurodevelopmental disorder considered an ultra-rare disease, first discovered in 2012. Given its comorbidity of symptoms with more prevalent diseases, such as ASD or CP, many CTNNB1 syndrome patients had previously received those diagnosis. Therefore, the aim of this study is to establish differences on the cognitive and adaptive functioning of the CTNNB1 syndrome compared with ASD and CP. METHODS: A total of 55 paediatric patients-25 CTNNB1 syndrome, 17 ASD and 13 PC-were assessed with an extensive protocol for neuropsychological domains through in-person assessments and online meetings for the parent-reported questionnaire. RESULTS: No cognitive differences were found among verbal tasks between groups, even though CTNNB1 syndrome patients obtained significantly lower scores in visuospatial and logical tasks. Regarding adaptive functioning, ASD patients outperformed the CTNNB1 syndrome group in most domains, whereas CP patients did not differ as much, obtaining only lower scores in gross motor ability. Externalizing problems were more prevalent in the CTNNB1 syndrome group compared with the control groups. Also, correlations indicated improvement of cognitive and adaptive functioning over the years for the CTNNB1 syndrome patients. CONCLUSIONS: This is the first study to compare the cognitive and adaptive functioning of CTNNB1 syndrome patients with control diseases and detect significant difference. Although intellectual disability is one of the main manifestations of the CTNNB1 syndrome, patients performed better on verbal cognitive tasks than in visuospatial and logical thinking exercises, while adaptive functioning performances did not differ from control groups.

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34. Poulsen R, Tan DW, Sowman PF, McAlpine D, Pellicano E. Auditory environments influence the link between Autistic traits and quality of life. Sci Rep;2025 (Mar 27);15(1):10612.

Autistic people often report a heightened sensitivity to sound. Yet, research into Autistic people’s auditory environments and their impacts on quality of life is limited. We conducted an online survey to understand how auditory environments influence the relationships between Autistic traits and impacts on quality of life (iQoL) due to sound sensitivity. We also sought to determine strategies that Autistic people use to navigate auditory sensitivities in daily life.296 Autistic adults (58.4% women, 15.9% men, 24.3% non-binary +) aged 18-71 years completed the survey comprising a questionnaire with bespoke items measuring auditory experiences in different environments (e.g., noisy vs. quiet) and measures of Autistic traits and iQoL. Our path analyses revealed a significant indirect effect of aversive auditory environments on the relationships between all domains of Autistic traits and iQoL. Notably, the association between non-verbal social communication trait and iQoL was fully mediated by all forms of auditory environments. Additionally, most (n = 217, 73.5%) Autistic participants reported using earplugs and headphones to manage their sound environments in everyday life. Our study demonstrates that many aspects of auditory environments-beyond noise alone-can negatively impact Autistic people’s QoL. Addressing barriers created by auditory environments through accommodations should improve QoL for Autistic people.

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35. Poyas Naharan R, Estrugo Y, Bar Yehuda S, Bauminger-Zviely N. Motor and socio-cognitive mechanisms explaining peers’ synchronization of joint action across development in autistic and non-autistic children. Autism;2025 (Mar 26):13623613251328437.

When partners coordinate their movement in time and space to reach a goal, they perform joint action, an important part of every interaction. Joint action involves motor abilities and socio-cognitive skills like theory of mind. Autistic children’s lower joint motor coordination (joint action) abilities as well as their motor functioning and theory of mind difficulties may interfere with efficient peer interaction. However, the shared contribution of motor and theory of mind to partners’ joint action was not yet explored. This study investigated those contributors (motor and theory of mind) along with group and age differences in 84 autistic children ages 6-16 years and 64 non-autistic children matched by age, sex, and IQ across three age-groups: early-childhood, preadolescence, and adolescence. Basic and advanced theory of mind skills and most motor tasks were higher among adolescents versus early-childhood. However, the autistic group consistently underperformed the non-autistic group in basic and advanced theory of mind levels and in all gross- and fine-motor tasks across all age-groups, revealing unique motor development characteristics in autism. A significant joint full mediation effect emerged for motor and theory of mind skills on joint action performance in both study groups. Understanding that motor and theory of mind skills together underlie joint action opens up a new channel of intervention to facilitate peer interaction.Lay abstractWhen two or more people move together in a coordinated way at the same time and in the same place, they perform « joint action, » which is an important part of everyday social interaction. Joint action involves the activation of both motor skills and the social-cognitive understanding of others’ thoughts, feelings, and desires-their ability to hold « Theory of Mind. » Motor functioning and Theory of Mind may be challenging for autistic individuals. We wanted to investigate how motor skills and the ability to understand others’ minds develop in autistic and non-autistic children and adolescents and to explore how these skills contribute to joint action performance. We compared 84 autistic children with 64 non-autistic children matched by age, sex, and IQ. Among these 6- to 16-year-olds, we examined three age-groups: early-childhood, preadolescence, and adolescence. We found that older participants, both in the autistic and non-autistic groups, showed better abilities than younger participants in basic and advanced Theory of Mind skills and in most motor tasks. However, non-autistic children outperformed autistic children in Theory of Mind (at basic and advanced levels) and also in all gross-motor and fine-motor tasks, across all age-groups. The autistic group’s motor patterns were characterized by greater variability in tasks’ rated difficulty levels compared to their non-autistic peers, who showed more intact, uniform patterns. Both motor and Theory of Mind skills were found to significantly impact joint action performance in both study groups. These findings are important for understanding joint action’s underlying mechanisms and for refining social intervention programs for autistic individuals.

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36. Prynda M, Pawlik AA, Emich-Widera E, Kazek B, Mazur M, Niemczyk W, Wiench R. Oral Hygiene Status in Children on the Autism Spectrum Disorder. J Clin Med;2025 (Mar 10);14(6)

Background/Objectives: Children with autism spectrum disorder (ASD) often face challenges in maintaining oral hygiene due to sensory sensitivities, behavioral difficulties, and limited access to specialized dental care. This study aimed to assess the oral hygiene status of children with ASD and compare it with neurotypical peers. Methods: A cross-sectional study was conducted with 74 children with ASD and 74 neurotypical children. Dental exams measured oral hygiene and caries prevalence using the DMFT/dmft, Oral Hygiene Index (OHI), and Sulcus Bleeding Index (SBI). Tooth brushing frequency and dental visits were also recorded. Statistical analysis was performed using the Mann-Whitney U test and Fisher’s exact test. Results: Children with ASD had significantly poorer oral hygiene and higher caries rates compared to controls. Boys with ASD had higher DMFT scores, indicating more caries. Additionally, ASD children brushed their teeth less often and had fewer dental visits. Preventive treatments were underutilized in this group despite a higher need. Conclusions: Children with ASD face notable oral health challenges, including poor hygiene, higher caries prevalence, and limited preventive care. These findings highlight the need for tailored interventions, improved parental education, and specialized dental care strategies for this population.

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37. Ramachandra V, Sugimoto K, Ziskind K, Verma A, Ahmad I, Godoy M, Watanabe K. The influence of iconicity and autistic traits on novel word learning: a cross-cultural investigation. R Soc Open Sci;2025 (Mar);12(3):242161.

The effects of iconicity and autistic traits on novel word learning were investigated through an online experiment involving 1481 healthy adult participants aged between 18 and 40 years from four countries: Brazil (N = 261), India (N = 416), Japan (N = 493) and the USA (N = 311). Participants completed a bouba-kiki-based word learning task, viewing novel images paired with either iconic names (congruent condition) or arbitrary names (incongruent condition). Word recognition was assessed using a three-alternative forced-choice procedure, and autistic traits were measured with the autism spectrum quotient (AQ). Results showed a significant benefit of iconicity across all countries, with better performance in the congruent condition. While a linear mixed model revealed no significant effect of AQ on bouba-kiki scores overall, a country-specific analysis found a weak but significant positive correlation between AQ scores and bouba-kiki performance in Japanese participants. This country-specific finding should be interpreted cautiously and warrants further exploration. Overall, the findings demonstrate the robustness and universality of the bouba-kiki effect on word learning across both Western and Eastern cultures. However, the relationship between autistic traits and iconicity was not consistent across all countries and may depend on cultural factors. Further research is needed to explore this in more detail.

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38. Romano A, Rodocanachi Roidi ML, Savini MN, Viganò I, Dziubak M, Pietrogrande L, Moran DS, Lotan M. Effects of a Supervised-As-Needed Home Exercise Program on Scoliosis and Motor Function in Rett Syndrome: A Multiple-Baseline Study. J Clin Med;2025 (Mar 11);14(6)

Background/Objectives: Scoliosis is a prevalent comorbidity in Rett syndrome (RTT), often necessitating surgical intervention. This study investigated the impact of a 10-month individualized home exercise program (HEP) on scoliosis progression and gross motor function in girls aged six to 16 years with RTT. Methods: A multiple-baseline single-case design (AABA) was employed with 20 participants. A remotely supervised HEP, based on established principles focused on posture and physical activity, was implemented daily for at least one hour. The primary outcome was the rate of scoliosis progression assessed through the Cobb angle change measured via spinal radiographs at baseline, pre-intervention, and post-intervention. The secondary outcome was the gross motor function. Results: The HEP did not significantly reduce the rate of scoliosis progression. However, individual responses varied, with three participants showing scoliosis reduction. Significant improvements were observed in gross motor function, particularly in standing, walking, and stair-climbing abilities. Conclusions: The HEP did not significantly impact overall scoliosis progression, but a significant improvement was found in gross motor function. Further research into larger sample sizes is needed to confirm the effectiveness of exercise interventions in people with RTT.

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39. Ryan RL, Gianneschi G. Retrospective case control study of microcurrent therapy in autism spectrum disorder: Behavioral outcomes and dose-response analysis. Explore (NY);2025 (Mar 25);21(3):103156.

Microcurrent therapy (MCT) is an emerging treatment modality in medicine, but its potential effects on autism spectrum disorder (ASD) remain underexplored. This study aimed to assess the effects of MCT on ASD symptoms to inform future clinical trials. We conducted a retrospective case-control study involving 21 pediatric patients and one adult with ASD who underwent MCT using a standardized protocol. The Autism Treatment Evaluation Checklist (ATEC) was administered before and after treatment to evaluate behavioral changes. A paired t-test compared pre- and post-treatment ATEC scores, while an unpaired t-test compared the MCT-treated group with age-matched historical controls reported in the literature. Linear regression analysis assessed the dose-response relationship. MCT was well tolerated, with no serious side effects. The 22 patients completed an average of 32 sessions. Paired t-test analysis revealed a statistically significant reduction in ATEC scores, with an average decrease of 28.6 points (42.8 %) (p = 0.007, 95 % CI: 8.3-48.9). In comparison to historical controls, the MCT-treated group showed greater improvement (26.4 points, 42.6 %) versus controls (7.9 points, 13.2 %) (p = 0.0001, 95 % CI: 19.9-47.5). Linear regression demonstrated a strong correlation between the number of MCT sessions and the magnitude of improvement (R = 0.693, F = 18.5, p = 0.0003, 95 % CI). These findings suggest that MCT may have a therapeutic effect on ASD, as evidenced by significant pre- and post-treatment improvements compared to historical controls and a dose-dependent response. Further research through larger clinical trials is warranted.

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40. Smith LD, Khanna A, Parish SL, Mitra M. Pregnancy Experiences of Women With Intellectual and Developmental Disabilities. Intellect Dev Disabil;2025 (Apr 1);63(2):149-164.

Today women with intellectual and developmental disabilities (IDD) are more likely than ever to live in the community and are increasingly likely to give birth. However, they are at increased risk of adverse maternal and infant outcomes. This qualitative study explored pregnancy care experiences of women with IDD. Semi-structured interviews were conducted in 2016-2017 with 16 mothers with IDD from the United States (analysis in 2020-2022). A content analysis approach revealed that perinatal care; social and economic factors; psychosocial factors; and environmental factors impacted pregnancy experiences. Some participants reported exceptional care. This study centers the voices and experiences of women with IDD in the United States. Findings demonstrate a need to improve care through clinician training and to develop accessible programs and services.

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41. Srinivasan S, Sattar N, Athreya A, Glenney SS, Bubela D. Stakeholder Perspectives on Physical Activity in Youth With Developmental Disabilities: A Mixed Methods Study. Intellect Dev Disabil;2025 (Apr 1);63(2):120-135.

We explored factors associated with physical activity (PA) engagement in youth with developmental disabilities (DD) as they transition out of school. We conducted focus group discussions with 44 youth, families, special educators, and therapists to obtain information on PA levels, barriers to being active, and recommendations to improve PA among youth. Youth preferred activities that are fun, not too challenging, noncompetitive, and promoted interactions with neurotypical peers. Families face the burden of sustaining PA in their adult children after school age and experience barriers related to accessibility and affordability of adult-oriented programs, availability of trained personnel, and challenges in balancing multiple work and family-related commitments. Our findings can inform the design of programs to promote PA among youth with DD.

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42. Stein Duker LI, Giffin W, Taylor EE, Shkhyan L, Pomponio Davidson A, Mosqueda L. Barriers and facilitators to primary healthcare encounters as reported by autistic adults: a qualitative study. Front Med (Lausanne);2025;12:1481953.

BACKGROUND: Primary care is designed to co-manage health concerns, contribute to preventive care, and provide medical care coordination. Receiving primary care may be especially vital for autistic people, many of whom disproportionately experience psychiatric and physical health conditions. However, autistic adults often face barriers to receiving primary care, and first-hand accounts of these challenges are limited. Therefore, the purpose of this study was to describe barriers and facilitators to primary care encounters as reported by autistic adults. METHODS: Interviews were conducted with 34 autistic adults in Los Angeles and Philadelphia, lasted an average of 26 min, were transcribed verbatim, and analyzed using thematic analysis. This dataset is part of a larger study that interviewed autistic adults, caregivers, and primary care providers (PCPs). RESULTS: Participants were primarily White, non-Hispanic, and had a mean age of 32 years. Five overarching themes describing challenges and potential strategies to improve care emerged from the interviews: (1) finding a primary care provider, (2) the physical environment, (3) communication, (4) autism-specific knowledge, and (5) support for primary care encounters, while simultaneously highlighting the importance of tailoring care for autistic adults to improve primary care experiences. Results, specifically in the communication and autism-specific knowledge themes, were consistent with the neurodiversity model of autism, as participants highlighted stigma and mutual communication as key healthcare barriers. CONCLUSION: Findings provide a nuanced understanding of autistic adult participants’ primary care experiences, highlighting their perception of barriers and facilitators to these healthcare encounters. These results offer valuable insights for improving the accessibility and quality of care for autistic people, many of which are practical, low/no cost, and easy to implement. Strategies also emphasized the diversity of experiences and preferences for autistic patients, highlighting the importance of tailoring accommodations in the primary care setting.

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43. Street AL, Thakkar VP, Lemke SW, Schoenbeck LM, Schumacher KM, Sathyanesan M, Newton SS, Kloth AD. Carbamoylated Erythropoietin Rescues Autism-Relevant Social Deficits in BALB/cJ Mice. NeuroSci;2025 (Mar 12);6(1)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects over 2% of the population worldwide and is characterized by repetitive behaviors, restricted areas of interest, deficits in social communication, and high levels of anxiety. Currently, there are no known effective treatments for the core features of ASD. The previous literature has established erythropoietin (EPO) as a promising antidepressant, working as a potent neurogenic and neurotrophic agent with hematopoietic side effects. Carbamoylated erythropoietin (CEPO), a chemically engineered non-hematopoietic derivative of EPO, appears to retain the neuroprotective factors of EPO without the hematologic properties. Recent evidence shows that CEPO corrects stress-related depressive behaviors in BALB/cJ (BALB) mice, which also have face validity as an ASD mouse model. We investigated whether CEPO can recover deficient social and anxiety-related behavioral deficits compared to C57BL/6J controls. After administering CEPO (40 μg/kg in phosphate-buffered saline) or vehicle over 21 days, we analyzed the mice’s performance in the three-chamber social approach, the open field, the elevated plus maze, and the Porsolt’s forced swim tasks. CEPO appeared to correct sociability in the three-chamber social approach task to C57 levels, increasing the amount of time the mice interacted with novel, social mice overall rather than altering the overall amount of exploratory activity in the maze. Consistent with this finding, there was no concomitant increase in the distance traveled in the open field, nor were there any alterations in the anxiety-related measures in the task. On the other hand, CEPO administration improved exploratory behavior in the elevated plus maze. This study marks the first demonstration of the benefits of a non-erythropoietic EPO derivative for social behavior in a mouse model of autism and merits further investigation into the mechanisms by which this action occurs.

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44. Thom RP, Warren TL, Khan S, Muhle RA, Wang PP, Brennand K, Zürcher NR, Veenstra-VanderWeele J, Hoffman EJ. A Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes. J Child Adolesc Psychopharmacol;2025 (Mar 26)

Objectives: Despite growing knowledge of the underlying neurobiology of autism spectrum disorder (ASD) and related neurogenetic syndromes, treatment discovery has remained elusive. In this review, we provide a blueprint for translational precision medicine in ASD and related neurogenetic syndromes. Methods: The discovery of trofinetide for Rett syndrome (RTT) is described, and the role of nonmammalian, mammalian, and stem cell model systems in the identification of molecular targets and drug screening is discussed. We then provide a framework for translating preclinical findings to human clinical trials, including the role of biomarkers in selecting molecular targets and evaluating target engagement, and discuss how to leverage these findings for future ASD drug development. Results: Multiple preclinical model systems for ASD have been developed, each with tradeoffs with regard to suitability for high-throughput small molecule screening, conservation across species, and behavioral face validity. Future clinical trials should incorporate biomarkers and intermediate phenotypes to demonstrate target engagement. Factors that contributed to the approval of trofinetide for RTT included replicated findings in mouse models, a well-studied natural history of the syndrome, development of RTT-specific outcome measures, and strong engagement of the RTT family community. Conclusions: The translation of our growing understanding of the neurobiology of ASD to human drug discovery will require a precision medicine approach, including the use of multiple model systems for molecular target selection, evaluation of target engagement, and clinical trial design strategies that address heterogeneity, power, and the placebo response.

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45. Thota NR, Kosaraju K, Rudrapogu JS, Nevali KP, Kondaveeti TR. Safety and One-year Follow-Up Analysis of Percutaneous ASD Closure at a Tertiary Care Hospital. Indian Heart J;2025 (Mar 27)

AIM: This study was designed to evaluate the safety and effectiveness of the Cocoon Septal Occluder device (Vascular Innovations Co. Nonthaburi, Thailand) for transcatheter closure of isolated secundum type atrial septal defect (ASD) in Indian patients METHODS: This was a single-center, retrospective, observational study which included patients who underwent transcatheter closure of isolated secundum ASD using the Cocoon Septal Occluder between April 2014 and May 2023. Follow-up assessments up to one-year were conducted through review of hospital medical records, clinic visits, or via telephonic communication with primary care physicians. RESULTS: A total of 400 patients were included in the study, consisting of 28 paediatric (aged ≤15 years, 8.14±4.41 years) and 372 adult patients (40.83±13.23 years). The mean defect diameter and device size were 16.75±5.85 mm and 20.43±6.24 mm for paediatric patients, and 21.62±6.87 mm and 24.94±7.28 mm for adult patients, respectively. The device was successfully implanted in all paediatric patients, achieving 100% closure of the defect with no complications, which persisted through one-year follow-up. In the adult cohort, complete ASD closure was achieved in 99.2% of patients, with two cases of device embolization and one case of device withdrawal. At one-year follow-up, adult patients experienced 0.3% late device embolization, 0.8% pericardial effusion/cardiac tamponade, 0.5% atrioventricular block, and 0.5% atrial flutter/fibrillation. No cases of endocarditis, haemolysis, nickel allergy, stroke/transient ischemic attack, or migraine were reported in either paediatric or adult patients. CONCLUSION: The results demonstrate that Cocoon Septal Occluder is safe and effective in closing isolated secundum ASD during one-year follow-up.

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46. Wang L, Qi X, Meng Z, Xiang M, Li Z, Zhang S, Hu L, Hirai HW, To CKS, Wong PCM. Assessing Social Communication and Measuring Changes in Chinese Autistic Preschoolers: A Preliminary Study Using the Social Communication Scale. J Speech Lang Hear Res;2025 (Mar 26):1-16.

PURPOSE: Assessing social communication and measuring its changes among young autistic children presents significant challenges, particularly when tracking intervention effects within short timeframes. Existing measures, mostly validated in Western contexts, may not be suitable for culturally diverse populations. Addressing this gap, the Social Communication Scale (SCS) was developed to provide a culturally accessible and reliable measure for the Chinese population. This study explores the psychometric properties of the SCS and its ability to capture intervention-induced changes. METHOD: Fifty-two autistic children aged 2-5 years were recruited from China. One parent per family participated in a 20-week support program aimed at enhancing parents’ communication strategies to prompt social communication with their children at home. The SCS was administered before and after the program. RESULTS: The SCS exhibited outstanding overall interrater reliability (ICC = .91) and convergent validity with established measures, including the Autism Diagnostic Observation Schedule-Second Edition, the Communication subdomain of the Mullen Scales of Early Learning, and the Vineland Adaptive Behavior Scales-Third Edition. Notably, the SCS effectively captured subtle changes during the 20-week intervention. CONCLUSIONS: As the first social communication scale developed for Chinese autistic preschoolers, the SCS proves to be a reliable and valid measure. This addresses unique challenges in autism assessment and intervention in China. To strengthen its broader applicability, future research should prioritize validating the SCS with larger and more diverse samples across various regions, contributing to a comprehensive understanding of its value and limitations. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28569035.

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47. Wei L, Zhou M, Hu P, Jia S, Zhong S. Abnormal brain activation in autism spectrum disorder during negative emotion processing: A meta-analysis of functional neuroimaging studies. J Psychiatr Res;2025 (Mar 21);185:1-10.

Autism Spectrum Disorder (ASD) has deficits in emotional processing, which is one of the most common abnormalities in ASD social skills. Studies have shown that negative emotions seem to stimulate brain activity more effectively. Therefore, it is necessary to explore the neural mechanisms underlying the abnormal performance of ASD in processing negative emotions. Considering the various results on negative emotions due to factors such as experimental paradigms and sample sizes, meta-analysis can consolidate multiple studies to obtain more reliable conclusions and explore potential factors. Therefore, this study conducted meta-analysis on negative emotions to explore the abnormal brain activation patterns of negative emotion processing in ASD. Our results revealed abnormal brain activation patterns in ASD at the systemic level when processing negative emotions, such as -abnormal hypoactivation in the bilateral inferior frontal gyrus, right cerebellum, left fusiform gyrus, and left amygdala, and abnormally complementary hyperactivation in the bilateral temporal gyrus. The negative emotion processing deficits in ASD seem to stem from the aforementioned comprehensive damage to brain regions from the mirror neuron system and the limbic system. Further, there were differences in abnormal brain activation patterns in explicit and implicit processing of negative emotions. These abnormal activation regions were significantly positively correlated with the severity of communication and social deficits in ASD, indicating impaired social skills in negative emotion processing. These findings contribute to further understanding of the pathophysiology of ASD and provide new perspectives for the treatment, rehabilitation, and diagnosis of ASD related impairments.

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48. Xie K, Blanchard A, Chihuri S, Russell M, Ing C, DiGuiseppi C, Li G. Unintentional Drowning Incidents Involving Children with Autism Spectrum Disorder Treated in US Emergency Departments, 2016-2020. J Autism Dev Disord;2025 (Mar 27)

Children with autism spectrum disorder (ASD) are at heightened risk of unintentional drowning. We examined the epidemiological patterns of unintentional drowning incidents involving children diagnosed with ASD treated in US emergency departments (EDs). Data for this study came from the 2016-2020 Nationwide ED Sample. Children aged 1-19 years diagnosed with ASD and treated in EDs were identified using ICD-10-CM code F84.0. Weighted multivariable logistic regression models were used to estimate the adjusted odds ratio (aOR) and 95% confidence interval (CI) of drowning-related ED visits associated with ASD. During the study period, there were an estimated 21,226 unintentional drowning-related ED visits in children, including 369 in children diagnosed with ASD. Compared to children without ASD, ED visits for unintentional drownings in children with ASD were more likely to have occurred in swimming pools (47.45% vs. 41.21%), natural water (15.55% vs. 8.82%), and bathtubs (8.08% vs. 4.79%). Among children with ASD, unintentional drowning-related ED visits occurred more commonly in children > 10 years (43.20% vs. 18.19%) and were more likely to result in hospital admission (35.14% vs. 22.02%) than among children without ASD. With adjustment for demographic characteristics, ASD was associated with more than a 2-fold increased odds of ED-treated unintentional drowning (aOR = 2.31; 95% CI 1.84, 2.89). Epidemiologic patterns of unintentional drowning are different between children with and without ASD. Targeted interventions designed to increase supervision, provide adaptive swimming lessons, and enhance environmental safety may reduce the risk of unintentional drownings among children diagnosed with ASD.

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49. Yan J, Han VX, Jones HF, Couttas TA, Jieu B, Leweke FM, Lee J, Loi C, Webster R, Kothur K, Menezes MP, Antony J, Kandula T, Cardamone M, Patel S, Bandodkar S, Dale RC. Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate. EBioMedicine;2025 (Mar 25);114:105664.

BACKGROUND: Autism is highly heritable, however actionable genetic findings are only found in a minority of patients. Many people with autism suffer loss of neurodevelopmental skills, known as autistic regression. The cause of regression is poorly understood, and the diagnostic and therapeutic pathways are lacking. METHODS: We used untargeted metabolomics using a UPLC-Q-Exactive-HFx Mass Spectrometry to examine cerebrospinal fluid (CSF) from twenty-two patients with autistic regression compared to sixteen controls with neurodevelopmental disorders (but not autistic regression) and thirty-four controls with other neurological disease (headache, encephalitis, epilepsy). The twenty-two patients with autistic regression consisted of two groups: early (infantile) autistic regression <2 years of age (n = 8), and later regression of skills >4 years of age, often in the context of pre-existing developmental concerns (n = 14). Metabolites of interest were then quantified and validated using targeted assays. FINDINGS: Untargeted case-control studies revealed good separation of patients from controls using multivariate analysis. β-hydroxybutyrate was significantly decreased in the CSF of patients with autistic regression, and the findings were validated using a targeted β-hydroxybutyrate assay. The sphingolipid, sphingosine-1-phosphate was significantly elevated in the discovery case-control studies, and sphingolipid metabolism pathways were also significantly dysregulated. We therefore developed a targeted metabolite assay of forty sphingolipids. After FDR correction, 21 of the 40 sphingolipids were significantly dysregulated (p(FDR) < 0.05) (Benjamini-Hochberg correction) in autistic regression compared to the neurodevelopmental controls, and 26 of the 40 sphingolipids were significantly dysregulated in autistic regression compared to other neurological controls, with elevated ceramides, hexosylceramides, sphingosines (including sphingosine-1-phosphate), and sulfatides. By contrast, sphingomyelin levels were generally decreased in autistic regression. INTERPRETATION: Our data shows the potential utility of CSF metabolomics in the context of autistic regression, a clinical syndrome which has historically lacked pathophysiological biomarkers and disease modifying therapies. FUNDING: Financial support for the study was granted by Dale NHMRC Investigator grant APP1193648, Petre Foundation, Cerebral Palsy Alliance, and Ainsworth and SCHF Neuroscience grant scheme.

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50. Zhou M, Niu B, Ma J, Ge Y, Han Y, Wu W, Yue C. Intervention and research progress of gut microbiota-immune-nervous system in autism spectrum disorders among students. Front Microbiol;2025;16:1535455.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social interaction and communication, repetitive and stereotyped behaviors, restricted interests, and sensory abnormalities. Its etiology is influenced by both genetic and environmental factors, with no definitive cause identified and no specific pharmacological treatments available, posing a significant burden on patients’ families and society. In recent years, research has discovered that gut microbiota dysbiosis plays a crucial role in the pathogenesis of ASD. The gut microbiota can influence brain function and behavior through the gut-brain axis via the nervous system, immune system, and metabolic pathways. On the one hand, specific gut microbes such as Clostridium and Prevotella species are found to be abnormal in ASD patients, and their metabolic products, like short-chain fatty acids, serotonin, and GABA, are also involved in the pathological process of ASD. On the other hand, ASD patients exhibit immune system dysfunction, with gut immune cells and related cytokines affecting neural activities in the brain. Currently, intervention methods targeting the gut microbiota, such as probiotics, prebiotics, and fecal microbiota transplantation, have shown some potential in improving ASD symptoms. However, more studies are needed to explore their long-term effects and optimal treatment protocols. This paper reviews the mechanisms and interrelationships among gut microbiota, immune system, and nervous system in ASD and discusses the challenges and future directions of existing research, aiming to provide new insights for the prevention and treatment of ASD.

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