1. Aarabi MA, Abdi K, Soleimani F. Tele-rehabilitation for children with physical disabilities: qualitative exploration of challenges in Iran. BMC Pediatr;2025 (Jan 7);25(1):11.

BACKGROUND: Children with physical disabilities (Having this type of disability can be due to any of the reasons such as cerebral palsy, genetic, developmental, neurodevelopment and any other reasons that cause physical disability in the child) need rehabilitation services. Tele-rehabilitation is a practical approach to provide rehabilitation services for children with rapid and continuous access. This approach has been used more recently and overcomes the limitations of conventional rehabilitation, which involves wasting time, traveling distance, and cost. The purpose of this study is to examine the challenges of telerehabilitation for children with physical disabilities such as cerebral palsy and developmental delay. METHOD: This study was conducted with the qualitative approach of content analysis in order to investigate the challenges of tele-rehabilitation services in Tehran in 2023. Twenty-two participants were selected based on purposeful sampling with maximum variation. Data was gathered through semi-structured and in-depth interviews with children’s parents and tele-rehabilitation service providers. The interviews lasted between 15 and 75 min, and MAXQDA 10 software was used for data analysis. The conventional content analysis method of Granheim and Lundman was used to analyze the data. In this research, four Guba and Lincoln criteria including creditability, dependency, conformability, and transferability were used to evaluate the trustworthiness of data. This article is part of a more extensive qualitative study that explored the barriers and facilitators of these services. FINDING: For the challenges of telerehabilitation services for these children, the researcher faced with 10 categories which were obtained after the investigation. The 10 categories are as follows: unorganized internet infrastructure, lack of a developed program, inefficient technology, disregard for ethical principles, lack of therapist information, visual and auditory limitations, cultural misconceptions, weakness of empathy and therapeutic alliance, Lack of familiarity with telerehabilitation, and the other online therapy problems. CONCLUSION: Finally, by identifying these challenges, it is possible to provide services with higher qualities to people of this group by reducing barriers. Also, the policy makers of the mentioned area should take more effective steps in order to provide this type of services to the families of children with physical disabilities, so that it ultimately leads to basic measures to improve the condition of these children.

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2. Acero-Ferrero M, Escolano-Pérez E. Executive Functions Assessment in a Child with Autism: A Pilot Single-Case Study from a Longitudinal and Mixed Methods Approach. Children (Basel);2024 (Nov 30);11(12)

Although the literature confirms executive deficits in individuals with autism spectrum disorder (ASD) that hinder adaptation, evidence-based intervention programs targeting this area are scarce, and even fewer have evaluated their effectiveness. OBJECTIVES: This study aimed to assess a pilot program designed to improve the executive functions of a child five years and nine months in age with ASD. METHODS: To evaluate the effects of the intervention, observational methodology was used, which is considered a mixed method in itself as it integrates both qualitative and quantitative elements in its various phases. Specifically, an idiographic, longitudinal, and multidimensional design was followed. A lag sequential analysis was conducted using GSEQ software Version 5.1, enabling us to study changes in the executive functions of a child before, during, and after the intervention, including whether its effects are sustained over time. RESULTS: The sequential patterns obtained indicate more appropriate and complex executive functioning after the three-month intervention, specifically increased cognitive flexibility, improved self-regulation, more accurate evaluation, and progress in inhibitory processes. However, these improvements do not persist over time. CONCLUSION: This study contributes to the scarcely explored field of executive function interventions in children with ASD, although it is necessary to consider the generalization of the results to other contexts, such as family and school, during interaction with peers.

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3. Al Eid NA, Alshehri SM, Arnout BA. The Predictability of Stress Coping Strategies and Psychological Capital on the Psychological Well-Being of Autistic Spectrum Children’s Mothers in the Kingdom of Saudi Arabia. Behav Sci (Basel);2024 (Dec 23);14(12)

There is an increasing number of studies concerned with the study of children with autism spectrum disorder (ASD). At the same time, there is a lack of interest in studies on their families, especially on mothers who represent the first breadwinner for a child who suffers from a deficit in social communication with others, reflected in their well-being (PWB). This study aimed to reveal the possibility of predicting the PWB of autistic spectrum children’s mothers through the variables of coping strategies and psychological capital (PsyCap). The study used a predictive, descriptive research method to reveal the ability of the variables-coping strategies (problem-solving, avoidance, support, re-evaluation, remorse) and PsyCap (self-efficacy, optimism, hope, and resilience)-in predicting the PWB of autistic spectrum children’s mothers. The study sample consisted of (248) mothers, to whom coping strategies, PsyCap, and PWB measures were applied. The results showed that there were statistically significant differences between working and housewife mothers of autistic spectrum children in solving problems (t = 3.162, p < 0.002), avoidance (t = 1.973, p < 0.05), positive coping (t = 2.307, p < 0.022), self-efficacy (t = 3.667, p < 0.000), resilience (t = 3.338, p < 0.001), PsyCap (t = 2.866, p < 0.005), and PWB (t = 2.549, p < 0.011). Meanwhile, there were no statistically significant differences in social support, problem reassessment, remorse, negative coping, optimism, and hope. Also, there were no statistically significant differences due to the number of children in coping strategies, PsyCap, and PWB. The results also showed that there were statistically significant differences at the level of significance (0.05) between mothers whose age was less than 40 years and those 40 years and older in solving problems (t = 2.093, p < 0.037) in favor of mothers of the age group 40 years and older (M = 22.00, SD = 1.22), and avoidance (t = 1.987, p < 0.048) in favor of mothers under 40 years of age (M = 6.228, SD = 0.464). However, there were no statistically significant differences in social support, problem reassessment, remorse, positive coping, negative coping, self-efficacy, optimism, hope, resilience, the total degree of PsyCap, and well-being due to the variable of the mother's age. The regression analysis results showed that optimism and problem-solving contributed to (39.90%) of the total change in PWB for mothers of children with autism spectrum. The study's findings indicate the need to develop the ability of autistic spectrum children's mothers to solve problems and their PsyCap, which is represented in self-efficacy, optimism, hope, and resilience, to enhance their PWB, which may have a positive impact on their autistic spectrum child.

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4. Anaclerio F, Minelli M, Antonucci I, Gatta V, Stuppia L. Microbiota and Autism: A Review on Oral and Gut Microbiome Analysis Through 16S rRNA Sequencing. Biomedicines;2024 (Nov 25);12(12)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with multifactorial etiologies, including genetic, environmental, and microbiological factors. In recent years, increasing attention has been given to the role of the gut microbiota in ASD. Emerging evidence suggests that gut microbiota dysbiosis may influence the central nervous system through the gut-brain axis, potentially impacting behavior and neurodevelopment. The use of 16S rRNA gene sequencing has become a pivotal tool in profiling the microbial communities associated with ASD, offering valuable insights into bacterial diversity, composition, and potential functional roles. This review aims to provide a comprehensive analysis of current findings on the relationship between the gut and oral microbiota with ASD, and a particular focus on studies utilizing 16S rRNA sequencing. We will explore how gut microbiome alterations may contribute to ASD pathophysiology, discuss the limitations of existing research, and propose future directions for the integration of microbiome analysis in ASD diagnostics and treatment strategies. These findings underscore the potential role of microbiota in modulating ASD symptoms. The data suggest that specific bacterial taxa are consistently altered in ASD, which may have implications for understanding the gut-brain axis and its influence on neurodevelopment.

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5. Arcebido K, Tuliao EV, Ibarra AM, Russell K, Valdes A, Shinkre S, Gefen S, Evans A, Barella S, Wadei J, Quinon I, Soda T. Determining rates of genetic testing in the evaluation of autism spectrum disorder and intellectual and developmental disorder. Autism;2025 (Jan 7):13623613241289980.

Genetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates. Researchers reviewed over 7500 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders. Some factors that were recorded include patient demographics (race, gender, insurance, zip code), ordered but not completed tests, genetic test results and reasons for declining genetic tests if noted, and other known barriers to genetic testing such as blood draws and specialties of providers seen by patients. Statistical analysis was conducted to determine associations between rates of genetic testing and different factors recorded in our database. Our results demonstrate that less than half of patients received at least one indicated genetic test, while a smaller percentage received recommended genetic tests. While sex assigned at birth and gender did not impact whether a patient received at least one indicated genetic test, race and insurance did. Our review reveals that genetic testing is not sufficiently offered by physicians, and we have identified multiple obstacles that prevent patients from receiving genetic testing which must be further investigated.

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6. Arsham S, Mirzaei M, Domingos C. Bike-Riding Training may Improve Communication Skills and Stereotyped Behavior in Adolescents With Autism. J Autism Dev Disord;2025 (Jan 8)

This research aimed to establish whether 12 weeks of bicycle-riding skills exercises with massed and distributed practice frequency at low and high intensity affect communication performance and stereotyped behavior among adolescent boys with autism. Fifty autistic boys aged 13.3 ± 1.32 years participated in the study. The participants were divided into homogeneous experimental groups (N = 10) with dissimilar training frequencies and intensities, along with a control group. Pre-tests using the GARS-2 test were administered to assess stereotyped behavior and communication skills, followed by post-tests and a one-month follow-up. Non-parametric Kruskal Wallis and ANCOVA results at a significance level of 0.05 showed that there was a significant difference in the post-test of stereotyped behavior and communication skills (p = 0.001 and p = 0.002, respectively) and follow-up test one month later (p = 0.003, p = 0.048, respectively) between the intervention and control groups after performing bike riding skills exercises with low and high intensities and frequencies (one and three sessions per week). Regardless of the intensity and frequency, bike riding skills training during the critical period of adolescence can significantly reduce stereotyped behaviors and enhance communication skills, which can also support positive development in other domains for individuals with autism.

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7. Atkinson E, Wright S, Wood-Downie H. « Do My Friends Only Like the School Me or the True Me? »: School Belonging, Camouflaging, and Anxiety in Autistic Students. J Autism Dev Disord;2025 (Jan 8)

The prevalence of autistic students in schools is continuously increasing. Typically, the social and sensory differences associated with autism can make the school environment difficult to manage. Autistic students are more likely to experience mental health difficulties than their non-autistic peers. It is therefore important to listen to autistic people about their educational experiences and explore ways that the environment could be changed to reduce anxiety. PURPOSE: The current research explores whether the relationship between school belonging and anxiety in secondary-aged autistic students is mediated by camouflaging. METHODS: An anonymous online survey was completed by 72 autistic students attending mainstream schools in the UK and Ireland. The survey included questionnaires about school belonging (simple sense of belonging scale), anxiety (ASC-ASD) and camouflaging traits (CAT-Q). Further, the survey included open-ended questions about environmental factors related to school belonging and camouflaging. Qualitative content analysis was used to interpret answers to open ended questions. RESULTS: The results found that, as predicted, camouflaging did mediate the relationship between school belonging and anxiety. Categories were created for each question, for example, ‘the school environment’ and ‘acceptance and understanding’. CONCLUSION: Social relationships; individual factors; the environment and adaptations, and acceptance and understanding, influence students’ sense of belonging.

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8. Bonetti M, Borsani E, Bonomini F. The Use of Nutraceutical and Pharmacological Strategies in Murine Models of Autism Spectrum Disorder. Cells;2024 (Dec 10);13(24)

Autism spectrum disorder (ASD) is a common neurodevelopmental condition mainly characterized by both a scarce aptitude for social interactions or communication and engagement in repetitive behaviors. These primary symptoms can manifest with variable severity and are often paired with a heterogeneous plethora of secondary complications, among which include anxiety, ADHD (attention deficit hyperactivity disorder), cognitive impairment, sleep disorders, sensory alterations, and gastrointestinal issues. So far, no treatment for the core symptoms of ASD has yielded satisfactory results in a clinical setting. Consequently, medical and psychological support for ASD patients has focused on improving quality of life and treating secondary complications. Despite no single cause being identified for the onset and development of ASD, many genetic mutations and risk factors, such as maternal age, fetal exposure to certain drugs, or infections have been linked to the disorder. In preclinical contexts, these correlations have acted as a valuable basis for the development of various murine models that have successfully mimicked ASD-like symptoms and complications. This review aims to summarize the findings of the extensive literature regarding the pharmacological and nutraceutical interventions that have been tested in the main animal models for ASD, and their effects on core symptoms and the anatomical, physiological, or molecular markers of the disorder.

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9. Cai RY, Samson AC. A non-systematic overview review of self-focused emotion regulation in autistic individuals through the lens of the extended process model. Autism;2025 (Jan 8):13623613241302533.

What do we already know about emotion regulation in autism?We know that many autistic children, youth, and adults experience difficulties regulating emotions. Existing research has focused mainly on the differences in emotion regulation capabilities between autistic and non-autistic individuals, the relationships between autistic traits and emotion regulation, and how emotion regulation relates to other outcomes, such as social skills and mental health.What does this paper add?We want to take a new approach to review the existing emotion regulation research through the lens of a specific theoretical model: the extended process model of emotion regulation. Professor James Gross developed this model. It consists of four emotion regulation phases: identification, selection, implementation, and monitoring.Our review revealed specific areas within these emotion regulation phases that could significantly impact the emotion regulation experiences of autistic individuals. We also outline the gaps in the research and propose avenues for future investigation.Implications for practiceBy deepening our understanding of emotion regulation in autistic individuals through the proposed future research, researchers and clinicians can pave the way for the development of tailored support programs. These programs will directly target specific emotion regulation mechanisms, offering a much-needed individualized support approach.

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10. Cano S, Cubillos C, Alfaro R, Romo A, García M, Moreira F. Wearable Solutions Using Physiological Signals for Stress Monitoring on Individuals with Autism Spectrum Disorder (ASD): A Systematic Literature Review. Sensors (Basel);2024 (Dec 20);24(24)

Some previous studies have focused on using physiological signals to detect stress in individuals with ASD through wearable devices, yet few have focused on how to design such solutions. Wearable technology may be a valuable tool to aid parents and caregivers in monitoring the emotional states of individuals with ASD who are at high risk of experiencing very stressful situations. However, effective wearable devices for individuals with ASD may need to differ from solutions for those without ASD. People with ASD often have sensory sensitivity and may, therefore, not tolerate certain types of accessories and experience discomfort when using them. We used the Scopus, PubMed, WoS, and IEEE-Xplore databases to search for studies published from 2014 to 2024 to answer four research questions related to wearable solutions for individuals with ASD, physiological parameters, and techniques/processes used for stress detection. Our review found 31 articles; not all studies considered individuals with ASD, and some were beyond the scope of this review. Most of the studies reviewed are based on cardiac activity for stress monitoring using photoplethysmography (PPG) and electrocardiography (ECG). However, limitations include small sample sizes, variability in study conditions, and the need for customization in stress detection algorithms. In addition, there is a need to customize the stress threshold due to the device’s high individual variability and sensitivity. The potential of wearable solutions for stress monitoring in ASD is evident, but challenges include the need for user-friendly and unobtrusive designs and integrating these technologies into comprehensive care plans.

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11. Carpita B, Nardi B, Parri F, Cerofolini G, Bonelli C, Bocchino CG, Massimetti G, Cremone IM, Pini S, Dell’Osso L. Obsessive-Compulsive Traits and Problematic Internet Use Are Increased Among Adults with Autism Spectrum Disorder: Is There a Role of Obsessive Doubts and Communication Impairment?. Brain Sci;2024 (Nov 22);14(12)

BACKGROUND: The link between autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) and the complexity of their differential diagnosis has been vastly investigated. Growing attention has been paid to the presence of problematic Internet use (PIU) in autistic individuals. Studies assessing OCD traits in autistic individuals are scarce and even less take into account the role that this overlap may have on the development and maintenance of PIU. We aimed to investigate OCD features in ASD individuals and their association with autism severity and the prevalence of PIU, and the potential dimensions associated with a greater probability of PIU. METHODS: a total of 46 participants with ASD and 53 controls were assessed with the Adult Autism Subthreshold Spectrum questionnaire and the Obsessive-Compulsive Spectrum-Short Version. RESULTS: There were significantly higher OCD features in ASD participants along with important correlations between OCD and ASD dimensions and a higher prevalence of PIU in the ASD group. Participants with putative PIU reported greater scores on some ASD and OCD dimensions, the with Doubt and Non-verbal communication domains emerging as significant predictors of the presence of putative PIU. CONCLUSIONS: These results support the three-way link between ASD, OCD, and PIU, contributing to the hypothesis of a neurodevelopmental basis for those conditions.

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12. Chen S, Zhang Y, Li M, Li B, Lu S, Chan A, Ge H, Tang T, Chen Z. Acquisition of Speech Prosody in a Non-native Tone Language by Children With and Without Autism Spectrum Disorder. J Autism Dev Disord;2025 (Jan 8)

PURPOSE: Children with autism spectrum disorder (ASD) often show abnormal speech prosody. Tonal languages can pose more difficulties as speakers need to use acoustic cues to make lexical contrasts while encoding the focal function, but the acquisition of speech prosody of non-native languages, especially tonal languages has rarely been investigated. METHODS: This study aims to fill in the aforementioned gap by studying prosodic focus-marking in Mandarin by native Cantonese-speaking children with ASD (n = 25), in comparison with their typically developing (TD) peers (n = 20) and native Mandarin-speaking children (n = 20). Natural prosodic marking of different types of focus was elicited by picture-based prompt questions, recorded and analyzed acoustically. RESULTS: The autistic children made use of fewer acoustic cues and produced less evident on-focus expansion in these cues than TD, especially the native-Mandarin speaking peers. They also demonstrated a clear preference to on-focus expansion than to post-focus compression. These children, together with their native Cantonese-speaking peers, also hyper-performed in tone realization, prioritizing lexical prosody over focus marking. Such hyper-performance may further limit their use of prosodic cues in focus marking. However, the difficulties the autistic children faced in the acquisition of speech prosody in a non-native tone language, though found, are not more than those they face in their mother tongue. CONCLUSION: Multilingual exposure may help the autistic children master the use of some focus marking strategies though they still need interventions to help them to implement their focus-marking knowledge more sufficiently in both native and non-native languages.

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13. Conti E, Calderoni S, Guerrera S, Guzzetta A, Palermo G, De Giacomo A, Tancredi R, Vicari S, Turi M. Dysregulation Profile in Preschoolers with Autism Spectrum Disorder: An Italian Multi-Center Perspective. Children (Basel);2024 (Nov 30);11(12)

Background/Objectives: Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental condition characterized by social communication impairments and repetitive behaviors. Recent reports show that one in thirty-six 8-year-old children are autistic, signifying a considerable public health concern. According to previous studies, emotional dysregulation (ED) affects 50-60% of individuals with ASD and includes symptoms such as poor emotional control, heightened reactivity, and a low frustration tolerance. The main aims of the current study are to investigate the prevalence of ED among autistic preschoolers (below 6 years of age) and to assess the impacts of gender and intellectual disability on their emotional dysregulation profile. Methods: Data have been collected from three children’s research hospitals in Italy (IRCCS Stella Maris Foundation, Stella Maris Mediterraneo Foundation, and IRCCS Bambino Gesù). Parents of 825 autistic pre-schooled children (mean age: 39.68 months, SD: 10.51 months) completed a general questionnaire and the Child Behaviour Checklist (CBCL), a reliable caregiver-reported assessment tool which provides a dysregulation profile. Results: A total of 30% of the children displayed a severe-to-moderate ED (emotional dysregulation) profile, with these children exhibiting significantly higher emotional-behavioral problems compared to those without ED. Males with ED exhibited greater emotional reactivity than females with ED. However, no significant relationships were found between ED and age, autism severity (ADOS-2), or intellectual disability. Conclusions: The results underline the importance of early, tailored interventions to face emotional challenges in young children with ASD, potentially improving long-term outcomes for this population.

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14. Cremone IM, Dell’Osso L, Nardi B, Giovannoni F, Parri F, Pronestì C, Bonelli C, Massimetti G, Pini S, Carpita B. Altered Rhythmicity, Depressive Ruminative Thinking and Suicidal Ideation as Possible Correlates of an Unrecognized Autism Spectrum in Patients with Borderline Personality Disorder. Brain Sci;2024 (Dec 23);14(12)

BACKGROUND/OBJECTIVES: Recent research has explored the presence of subthreshold autistic traits (ATs) in individuals with borderline personality disorder (BPD), suggesting that these traits may contribute to the severity of BPD symptoms and increase the risk of other mental health issues, including suicidal behaviors. This study aims to investigate the relationship between ATs and affective symptoms, such as mood instability and suicidality, in people diagnosed with BPD. METHODS: A total of 48 subjects with BPD were assessed with self-report questionnaires including the Adult Autism Subthreshold Spectrum (AdAS Spectrum), the mood spectrum self-report version (MOODS-SR) and the ruminative response scale (RRS). RESULTS: Subjects with significant ATs scored higher than BPD subjects in all domains and in the total score of AdAS Spectrum, RRS, and MOODS-SR, as well as in the items investigating suicidality. RRS total score, its depression domain, and the MOODS-SR rhythmicity domain, as well as suicidality, were predictors of the presence of ATs. CONCLUSIONS: Our data confirm the relationship between the presence of clinically significant ATs and affective symptoms, ruminative thinking, and suicidality in patients with BPD.

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15. da Costa I, Junqueira RB, Faé DS, de Souza LAP, Lemos CAA. Increased Risk of Dentoalveolar Trauma in Patients with Autism Spectrum Disorder: A Systematic Review with Meta-Analysis. Int J Environ Res Public Health;2024 (Nov 26);21(12)

The prevalence of traumatic dental injuries (TDI) in patients with autism spectrum disorders (ASD) remains unclear. Given these discrepancies, an updated review of the evidence on the risk of TDI in patients with ASD is essential. This systematic review and meta-analysis aimed to evaluate the prevalence of TDI in patients with ASD and compare it to that in neurotypical patients. This study protocol was registered on PROSPERO (CRD42024580127) and followed the Cochrane Handbook for Systematic Reviews of Interventions and PRISMA guidelines. A comprehensive search of four databases-MEDLINE/PubMed, Web of Science, Scopus, and Embase-was conducted for articles published up to August 2024. Moreover, the gray literature (ProQuest) and reference lists were screened. The inclusion criteria required participants with ASD to assess TDI across deciduous, mixed, and permanent dentition regardless of age. No restrictions were applied on TDI type, language, or publication date. Additionally, case reports, reviews, letters, and studies addressing other oral disorders without specific TDI data were excluded. A single-arm meta-analysis evaluated the cumulative proportion and 95% confidence interval (CI) of TDI in patients with ASD. Moreover, a comparative meta-analysis was performed to assess the risk of TDI between ASD and neurotypical patients, calculating the odds ratio (OR) with a 95% CI, and a p < 0.05 was deemed significant, using the R program. Quality assessment was performed using the National Heart, Lung, and Blood Institute tool, and the certainty of evidence was evaluated using GRADE. A total of 22 studies were included to determine the overall prevalence of TDI, of which 16 studies directly compared patients with ASD to neurotypical individuals. In total, 3817 participants were evaluated, including 2162 individuals with ASD and 1655 neurotypical patients. A single-arm meta-analysis estimated a TDI prevalence of 22% (Confidence Interval [CI]: 17-27%) among patients with ASD. A significant difference in the risk was observed between ASD and neurotypical patients (p = 0.003; Odds Ratio [OR]: 1.67; CI: 1.19-2.26). However, substantial heterogeneity was observed in this analysis. Although the majority of studies were rated as high quality, the certainty of the evidence was considered very low. Despite the limitations of this study, the findings suggest that patients with ASD are at a higher risk of developing TDI than the risk observed in neurotypical patients. Therefore, preventive educational initiatives are recommended to reduce the risk of TDI in this population.

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16. de Diego-Otero Y, El Bekay R, García-Guirado F, Sánchez-Salido L, Giráldez-Pérez RM. Apocynin, a Selective NADPH Oxidase (Nox2) Inhibitor, Ameliorates Behavioural and Learning Deficits in the Fragile X Syndrome Mouse Model. Biomedicines;2024 (Dec 18);12(12)

Background/Objectives: Fragile X Syndrome (FXS) is associated with intellectual disability, hyperactivity, social anxiety and signs of autism. Hyperactivation of NADPH oxidase has been previously described in the brain of the male Fmr1-KO mouse. This work aims to demonstrate the efficacy of Apocynin, a specific NADPH oxidase inhibitor, in treating Fragile X mouse hallmarks. Methods: Free radicals, lipid and protein oxidation markers and behavioural and learning paradigms were measured after chronic treatment with orally administered vehicle, 10 mg/kg/day or 30 mg/kg/day of Apocynin. Results: The results revealed a reduction in testis weight, an increase in peritoneal fat, and no variation in body weight after chronic treatment. Furthermore, a reduction in hyperactivity was detected in Apocynin-treated male Fmr1-KO mice. Additionally, the higher dose of 30 mg/kg/day also improves behaviour and learning in the male Fmr1-KO mice, normalising free radical production and oxidative parameters. Moreover, a reduction in phospho-EKR1 and P47-Phox protein signals was observed in specific brain areas. Conclusions: Thus, chronic treatment with Apocynin could lead to a new therapeutic option for the Fragile X Syndrome.

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17. Decker L, Waldrop J, Derouin A. Neuropsychiatric Stabilization in Youths on the Autism Spectrum in the Pediatric Emergency Department: A Call for Practice Standardization. J Pediatr Health Care;2025 (Jan 7)

INTRODUCTION: Children and adolescents with neurodevelopmental and psychiatric comorbidities, particularly autism spectrum disorder and developmental delays (ASD/DD), present unique challenges in pediatric emergency department (PED) settings. Youths with ASD/DD are prone to sensory overload and frequently exhibit agitation and/or aggression, necessitating specialized interventions. However, PEDs lack standardized protocols for managing behavioral dysregulation in this vulnerable population, often relying on anecdotal treatment approaches that hinder the provision of safe, effective and individualized care. METHODS: A review of the literature and current agitation guidelines was conducted and analyzed inform the development of a clinical pathway tailored to the specific neuropsychiatric needs of youths with ASD/DD in the PED. RESULTS: A comprehensive clinical pathway was formulated to equip healthcare teams with safe and effective prevention, de-escalation and impact mitigation strategies, including environmental modifications, behavioral interventions, caregiver engagement and evidence-based pharmacologic guidelines. DISCUSSION: Implementing this standardized framework will enhance patient outcomes, improve safety, and ensure compassionate, patient-centered care in PEDs.

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18. Dickter CL, Chang I, Burk JA, Bravo AJ. Autistic Traits, Emotion Regulation, Social Anxiety, Drinking to Cope, and Problematic Alcohol Use: A Cross-Cultural Examination Among Young Adults from Seven Countries. Subst Use Misuse;2025 (Jan 8):1-9.

BACKGROUND: Prior research suggests that individuals reporting autistic traits are at heightened risk for alcohol dependence once they begin drinking; thus, examining factors that may lead to problematic drinking in this population is imperative. Neurotypical college students higher in autistic traits tend to have more social anxiety, more challenges with social skills and communication, and weaker social adjustment than those lower in autistic traits, which are risk factors for problematic alcohol use. OBJECTIVES: The present study sought to assess whether university students with more autistic traits would report greater alcohol-related negative consequences, and whether this association would be indirectly influenced by social anxiety, emotion regulation, and drinking to cope. Students (n=3,756; 71.4% female) from 12 universities spanning seven countries completed questionnaires assessing autistic traits, social anxiety, emotion regulation, drinking to cope, and negative alcohol-related consequences. RESULTS: Results from our comprehensive path model indicated that exhibiting more autistic traits was associated with higher social anxiety and distinct emotion regulation strategies (i.e., higher endorsement of expressive suppression and lower endorsement of cognitive reappraisal), which in turn were associated with more drinking to cope motives, which in turn was associated with more alcohol-related problems. These findings were consistent across gender and country groupings (i.e., test of model invariance). CONCLUSIONS: These results inform our understanding of how university students with higher autistic traits may develop problems with alcohol and our results may inform interventions or preventative efforts. Future research should examine longitudinal designs to further refine this model and establish temporal evidence of its trajectory.

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19. Dionisio J, de Sá C, Lúcio S, de Almeida GN, Cordovil R. Motor Competence in Autistic Children with Attention-Deficit Hyperactivity Disorder. Children (Basel);2024 (Dec 14);11(12)

BACKGROUND/OBJECTIVES: Children with autism exhibit deficits in fundamental motor skills, which are intensified when associated with attention-deficit/hyperactivity disorder (ADHD). OBJECTIVE: To correlate motor competence in children with autism, autism levels according to the CARS scale, and the association with ADHD. METHODS: This cross-sectional study assessed motor competence using the Motor Competence Assessment (MCA), the severity of Autism Spectrum Disorder by Childhood Autism Rating Scale (CARS), and the presence of clinical signs for ADHD using Swanson, Nolan, and Pelham (SNAP-IV) questionnaire. A total of 68 children were recruited; however, 23 were not included due to non-acceptance and/or were excluded because of associated pathologies, high autism severity. Consequently, 45 children (11 with ADHD) between the ages of 5 and 11 (Mean: 8.15; ±1.75) with 83.72% being male. RESULTS: Multiple linear regression revealed a significant inverse correlation between MCA scores and raw CARS data (p = 0.01), indicating that greater autism severity is associated with lower motor competence. The correlation was also observed in CARS classifications, with higher autism severity corresponding to lower motor percentiles (p = 0.05). However, the correlation between the presence of ADHD and motor competence in children with ASD did not reach significance. Overall, a significant correlation was observed (p = 0.006) when analyzing all variables (CARS scores, SNAP scores, and CARS classification). CONCLUSION: Therefore, it is believed that children with autism exhibit deficits in functional motor skills, with severity impacting motor competence. The findings underscore the need for systematic motor skill assessments in children with autism, emphasizing the importance of monitoring and intervention in this aspect of their development.

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20. Drago A, Calabro M, Crisafulli C. Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples. Genes (Basel);2024 (Dec 17);15(12)

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by limited interests, difficulties in social interactions, repetitive behaviors, and impairments in social communication. ASD tends to run in families, and twin studies suggest a strong genetic basis for the disorder. However, the definition of a genetic profile that indicates a risk for ASD remains unclear. METHODS: This analysis includes an investigation (Autism Dataset 4 from the NIMH repository, n = 2890) and a replication (Autism Dataset 3 from the NIMH repository, n = 1233) of trio samples with GWAS data. In Phase 1, a molecular pathway analysis is conducted on the investigation sample to test for the enrichment of specific Gene Ontology (GO) terms associated with autism. In Phase 2, the identified pathways are tested for enrichment in the replication sample. Permutation tests are performed to reduce the risk of false-positive findings. Quality assessment is conducted using QQ-plots and λ values, with Plink and R utilized for the Transmission Disequilibrium Test (TDT) and permutation tests. RESULTS: The GO term GO:0007417 was found to be enriched in both the investigation and replication samples. SNPs associated with this pathway were observed at a frequency higher than expected in the replication sample. CONCLUSIONS: The GO term GO:0007417 (development of the nervous system) was associated with autism in both trio samples. Variations in the genes TMPRSS4, TRPC4, and PCDH9 were consistently linked to autism across the two independent samples, highlighting the role of calcium signaling and cell adhesion molecules in the risk of autism-related disorders. The pathways and variations associated with autism are described in detail, which can contribute to the engineering of new pharmacological treatments for ASD.

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21. Emezie A, Kamel R, Dunphy M, Young A, Nuske HJ. Using Heart Rate and Behaviors to Predict Effective Intervention Strategies for Children on the Autism Spectrum: Validation of a Technology-Based Intervention. Sensors (Basel);2024 (Dec 16);24(24)

Many children on the autism spectrum engage in challenging behaviors, like aggression, due to difficulties communicating and regulating their stress. Identifying effective intervention strategies is often subjective and time-consuming. Utilizing unobservable internal physiological data to predict strategy effectiveness may help simplify this process for teachers and parents. This study examined whether heart rate data can predict strategy effectiveness. Teachers and coders from the research team recorded behavioral and heart rate data over three months for each participating student on the autism spectrum using the KeepCalm app, a platform that provides in-the-moment strategy suggestions based on heart rate and past behavioral data, across 226 instances of strategy interventions. A binary logistic regression was performed to assess whether heart rate reduction, time to return to heart rate baseline, and documented skills and challenging behaviors predicted strategy effectiveness. Results suggested that heart rate reduction may be a significant predictor, and supported the existing practice of using behavioral patterns as proxies for strategy effectiveness. Additional analyses indicate proactive strategies are more effective and are associated with greater reduction in heart rate, relative to reactive strategies. Further exploration of how internal physiological data can complement observable behaviors in assessing intervention strategy effectiveness is warranted given the novelty of our findings.

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22. Gabriel GC, Yagi H, Tan T, Bais A, Glennon BJ, Stapleton MC, Huang L, Reynolds WT, Shaffer MG, Ganapathiraju M, Simon D, Panigrahy A, Wu YL, Lo CW. Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease. Nat Commun;2025 (Jan 7);16(1):469.

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease associated with microcephaly and poor neurodevelopmental outcomes. Here we show that the Ohia HLHS mouse model, with mutations in Sap130, a chromatin modifier, and Pcdha9, a cell adhesion protein, also exhibits microcephaly associated with mitotic block and increased apoptosis leading to impaired cortical neurogenesis. Transcriptome profiling, DNA methylation, and Sap130 ChIPseq analyses all demonstrate dysregulation of genes associated with autism and cognitive impairment. This includes perturbation of REST transcriptional regulation of neurogenesis, disruption of CREB signaling regulating synaptic plasticity, and defects in neurovascular coupling mediating cerebral blood flow. Adult mice harboring either the Pcdha9 mutation, which show normal brain anatomy, or forebrain-specific Sap130 deletion via Emx1-Cre, which show microcephaly, both demonstrate learning and memory deficits and autism-like behavior. These findings provide mechanistic insights indicating the adverse neurodevelopment in HLHS may involve cell autonomous/nonautonomous defects and epigenetic dysregulation.

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23. Galvany-López P, Martí-Vilar M, Hidalgo-Fuentes S, Cabedo-Peris J. The Impact of Dog-Assisted Therapy Among Children and Adolescents with Autism Spectrum Disorder: A Systematic Review. Children (Basel);2024 (Dec 9);11(12)

BACKGROUND AND OBJECTIVES: Animal-assisted therapies have been utilized in various profiles to improve people’s quality of life. This systematic review aims to assess the impact of dog-assisted therapies (DAT) on children and adolescents with Autism Spectrum Disorder (ASD). The benefits provided, the feasibility of implementation, and potential limitations are analysed. METHODS: An exhaustive search was carried out in the following databases: Web of Science (WoS), Scopus, ERIC, PubMed, PubPsych, CINAHL, PsycInfo and Dialnet. The procedure was preregistered on PROSPERO. RESULTS: This review included 19 scientific articles. Of these, 84% suggest that DAT has a positive impact on communication and social interaction during the development of children and adolescents diagnosed with ASD. The dog is often perceived as a communication facilitator that serves as a reinforcer, capturing the individual’s attention. Emotional benefits have also been reported, including reducing stereotyped and self-harming behaviours. Additionally, an increase in smiling frequency and self-esteem levels was observed. CONCLUSIONS: These findings highlight the potential of DAT as a component of socio-educational intervention for children and adolescents diagnosed with ASD. However, further research is necessary due to the limited sample sizes in the studies reviewed.

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24. Garcia CPM, Mendonça AG, Fagundes A, Santos ACM, Pereira FJR, Valdevino SC, de Góis RMO, Lins RBE, Freire RP, de Sousa MM, Pereira V, Silva CCS. Mobile Application for Tracking Children with Autistic Spectrum Disorder: Content Validation and Usability. Int J Environ Res Public Health;2024 (Nov 29);21(12)

BACKGROUND: This study aims to validate the content and evaluate the usability of the Autism App for screening children with autism spectrum disorder. METHODS: This methodological study was conducted between August 2023 and March 2024. The study included 15 experts for content validation and nine for usability evaluation, all of whom had experience in the health/technology field. Content validation data were analyzed using the Content Validity Ratio (CVR), and usability was assessed through heuristics using the MATcH-MED instrument. RESULTS: The content validation showed satisfactory CVR values, ensuring the validity of the developed application, with suggestions for revisions regarding aims and structure. The usability evaluation yielded an overall average score of 50.9 points, classified as a high level of usability. CONCLUSION: The results demonstrated that the App-Autismo has adequate evidence of content validity and usability. By incorporating the experts’ suggestions, this tool can be tested in future research for its effectiveness and efficiency.

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25. Gillett DA, Tigro H, Wang Y, Suo Z. FMR1 Disorders: Basics of Biology and Therapeutics in Development. Cells;2024 (Dec 18);13(24)

Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed that substantial repeat expansion of the 5′ end of the gene fragile X messenger ribonucleoprotein 1 (FMR1) promoted DNA methylation and, consequently, silenced expression of FMR1. Further analysis proved that shorter repeat expansions in FMR1 also manifested in disease at later stages in life. Treatment and therapy options do exist, but they only manage symptoms. Up to now, no cure for FMR1 disorders exists. In this review, we aim to provide an overview of FMR1 biology and the latest research focused on developing therapeutic interventions that can potentially prevent and/or reverse FXS.

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26. Gonçalez JL, Shen J, Li W. Molecular Mechanisms of Rett Syndrome: Emphasizing the Roles of Monoamine, Immunity, and Mitochondrial Dysfunction. Cells;2024 (Dec 17);13(24)

Rett syndrome (RTT), which predominantly affects females, arises in most cases from mutations in the Methyl-CpG-binding Protein-2 (MECP2) gene. When MeCP2 is impaired, it disrupts the regulation of numerous genes, causing the production of dysfunctional proteins associated with various multi-systemic issues in RTT. In this review, we explore the current insights into molecular signaling related to monoamines, immune response, and mitochondrial function, and their implications for the pathophysiology of RTT. Research has shown that monoamines-such as dopamine, norepinephrine, epinephrine, serotonin, and histamine-exhibit alterations in RTT, contributing to a range of neurological symptoms. Furthermore, the immune system in RTT individuals demonstrates dysfunction through the abnormal activity of microglia, macrophages, lymphocytes, and non-immune cells, leading to the atypical release of inflammatory mediators and disruptions in the NF-κB signaling pathway. Moreover, mitochondria, essential for energy production and calcium storage, also show dysfunction in this condition. The delicate balance of producing and scavenging reactive oxygen species-termed redox balance-is disrupted in RTT. Targeting these molecular pathways presents a promising avenue for developing effective therapies.

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27. Gupta V, Ben-Mahmoud A, Idris AB, Hottenga JJ, Habbab W, Alsayegh A, Kim HG, Al-Mamari W, Stanton LW. Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman. Int J Mol Sci;2024 (Dec 21);25(24)

Deficits in social communication, restricted interests, and repetitive behaviours are hallmarks of autism spectrum disorder (ASD). Despite high genetic heritability, the majority of clinically diagnosed ASD cases have unknown genetic origins. We performed genome sequencing on mothers, fathers, and affected individuals from 104 families with ASD in Oman, a Middle Eastern country underrepresented in international genetic studies. This approach identified 48 novel candidate genes significantly associated with ASD in Oman. In particular, 35 of these genes have been previously implicated in neurodevelopmental disorders (NDDs) in other populations, underscoring the conserved genetic basis of ASD across ethnicities. Genetic variants within these candidate genes that would impact the encoded protein included 1 insertion, 4 frameshift, 6 splicing, 12 nonsense, and 67 missense changes. Notably, 61% of the SNVs were homozygous, suggesting a prominent recessive genetic architecture for ASD in this unique population. The scarcity of genetic studies on ASD in the Arabian Peninsula has impeded the understanding of the unique genetic landscape of ASD in this region. These findings help bridge this knowledge gap and provide valuable insights into the complex genetic basis of ASD in Oman.

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28. Haddad S, Hessenberger M, Ablinger C, Eibl C, Stanika R, Campiglio M, Obermair GJ. Autism-Linked Mutations in α(2)δ-1 and α(2)δ-3 Reduce Protein Membrane Expression but Affect Neither Calcium Channels nor Trans-Synaptic Signaling. Pharmaceuticals (Basel);2024 (Nov 28);17(12)

BACKGROUND: α(2)δ proteins regulate membrane trafficking and biophysical properties of voltage-gated calcium channels. Moreover, they modulate axonal wiring, synapse formation, and trans-synaptic signaling. Several rare missense variants in CACNA2D1 (coding for α(2)δ-1) and CACNA2D3 (coding for α(2)δ-3) genes were identified in patients with autism spectrum disorder (ASD). However, the pathogenicity of these variants is not known, and the molecular mechanism by which α(2)δ proteins may contribute to the pathophysiology of autism is, as of today, not understood. Therefore, in this study we functionally characterized two heterozygous missense variants in α(2)δ-1 (p.R351T) and α(2)δ-3 (p.A275T), previously identified in patients with ASD. METHODS: Electrophysiological recordings in transfected tsA201 cells were used to study specific channel-dependent functions of mutated α(2)δ proteins. Membrane expression, presynaptic targeting, and trans-synaptic signaling of mutated α(2)δ proteins were studied upon expression in murine cultured hippocampal neurons. RESULTS: Homologous expression of both mutated α(2)δ proteins revealed a strongly reduced membrane expression and synaptic localization compared to the corresponding wild type α(2)δ proteins. Moreover, the A275T mutation in α(2)δ-3 resulted in an altered glycosylation pattern upon heterologous expression. However, neither of the mutations compromised the biophysical properties of postsynaptic L-type (Ca(V)1.2 and Ca(V)1.3) and presynaptic P/Q-type (Ca(V)2.1) channels when co-expressed in tsA201 cells. Furthermore, presynaptic expression of p.R351T in the α(2)δ-1 splice variant lacking exon 23 did not affect trans-synaptic signaling to postsynaptic GABA(A) receptors. CONCLUSIONS: Our data provide evidence that the pathophysiological mechanisms of ASD-causing mutations of α(2)δ proteins may not involve their classical channel-dependent and trans-synaptic functions. Alternatively, these mutations may induce subtle changes in synapse formation or neuronal network function, highlighting the need for future α(2)δ protein-linked disease models.

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29. Hatahet M, Sárváry A, Sárváry A. Music Therapy as a Tool to Unveil Musical Potential or Hidden Savant in Children with Autism: A Case Study. Children (Basel);2024 (Dec 19);11(12)

Background/Objectives: Savant syndrome is a perplexing condition characterized by the exceptional abilities or talents of individuals with disabilities or low IQ. Methods: This study shows an individual case of a child with autism, detailing how music therapy may facilitate the discovery of musical abilities and how it can improve different areas of development, e.g., motor function, communication, social skills, and emotional expression. Results: The 17-year-old male (KH), diagnosed at the age of three with autism spectrum disorder (ASD) and having moderate abilities, exhibited no interest in music until the initiation of a music therapy program at the age of 11 years. KH consistently has repeated movements which impede his advancement in various tasks. This observation prompted the occupational therapist to purposefully incorporate this movement into piano training and recommend the initiation of music therapy sessions. He subsequently began utilizing the piano and demonstrated an extraordinary aptitude for musical note interpretation and creation. Conclusions: Occupational therapy may contribute to revealing hidden savant syndrome in children with ASD. Prolonged musical training has multiple impacts on motor functioning and multi-sensory perception, and it may also elicit favorable behavioral modifications in children with autism.

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30. Hosseini S, Ghadimi M, Reyhani N, Khazaei S, Rahmatkhah-Yazdi M, Soleimani-Farsani R, Vaseghi S. BDNF and GSK-3beta expression changes underlie the beneficial effects of crocin on behavioral alterations in a rat model of autism induced by prenatal valproic acid administration. Naunyn Schmiedebergs Arch Pharmacol;2025 (Jan 8)

Autism spectrum disorder (ASD) is a serious neurodevelopmental disorder characterized by impairments in social interaction, language, and communication and induction of stereotypic behavior. In rodents, prenatal administration of valproic acid (often on 12.5 gestational days) is used for the induction of an ASD-like model. In the present study, we aimed to assess the potential therapeutic effects of crocin (a major component of Saffron, a neuroprotective and anti-inflammatory agent) on behavioral dysfunctions with respect to the level of brain-derived neurotrophic factor (BDNF) and glycogen synthase kinase-3 beta (GSK-3beta) in the medial prefrontal cortex. Valproic acid was intraperitoneally injected at the dose of 600 mg/kg on 12.5 gestational days. BDNF and GSK-3beta expression levels were also measured using real-time PCR. Locomotion, anxiety-like behavior, grooming, and sniffing were also measured in the open-field test. The results showed that prenatal valproic acid administration induced hyperactivity, anxiety-like behavior, increased grooming and sniffing (stereotyped behavior), decreased BDNF levels, and increased GSK-3beta levels in the medial prefrontal cortex. However, crocin dose-dependently restored the effects of prenatal valproic acid administration on behavioral functions and gene expressions. In conclusion, we suggested that BDNF and GSK-3beta expression changes in the medial prefrontal cortex may underlie the pathophysiology of ASD. The therapeutic effects of crocin may be also related to counteracting BDNF and GSK-3beta expression changes induced by prenatal valproic acid.

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31. Inamdar A, Gurupadayya B, Sharma H. The Role of Glial Cells in Autism Spectrum Disorder: Molecular Mechanisms and Therapeutic Approaches. CNS Neurol Disord Drug Targets;2025 (Jan 3)

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Emerging evidence highlights the significant role of glial cells, particularly astrocytes and microglia, in the pathophysiology of ASD. Glial cells are crucial for maintaining homeostasis, modulating synaptic function, and responding to neural injury. Dysregulation of glial cell functions, including altered cytokine production, impaired synaptic pruning, and disrupted neuroinflammatory responses, has been implicated in ASD. Molecular mechanisms underlying these disruptions involve aberrant signaling pathways, such as the mTOR pathway, and epigenetic modifications, leading to altered gene expression profiles in glial cells. Moreover, microglial activation and reactive astrocytosis contribute to an inflammatory environment that exacerbates neural circuit abnormalities. Understanding these molecular mechanisms opens avenues for therapeutic interventions. Current therapeutic approaches targeting glial cell dysfunction include anti-inflammatory agents, modulators of synaptic function, and cell-based therapies. Minocycline and ibudilast have shown potential for modulating microglial activity and reducing neuroinflammation. Additionally, advancements in gene editing and stem cell therapy hold promise for restoring normal glial function. This abstract underscores the importance of glial cells in ASD. It highlights the need for further research to elucidate the complex interactions between glial dysfunction and ASD pathogenesis, aiming to develop targeted therapies that can ameliorate the clinical manifestations of ASD.

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32. Ishino F, Itoh J, Matsuzawa A, Irie M, Suzuki T, Hiraoka Y, Yoshikawa M, Kaneko-Ishino T. RTL4, a Retrovirus-Derived Gene Implicated in Autism Spectrum Disorder, Is a Microglial Gene That Responds to Noradrenaline in the Postnatal Brain. Int J Mol Sci;2024 (Dec 23);25(24)

Retrotransposon Gag-like 4 (RTL4), a gene acquired from a retrovirus, is a causative gene in autism spectrum disorder. Its knockout mice exhibit increased impulsivity, impaired short-term spatial memory, failure to adapt to novel environments, and delayed noradrenaline (NA) recovery in the frontal cortex. However, due to its very low expression in the brain, it remains unknown which brain cells express RTL4 and its dynamics in relation to NA. We addressed these issues using knock-in mice carrying endogenous Rtl4 fused to Venus, which encodes a fluorescent protein. The RTL4-Venus fusion protein was detected as a secreted protein in the midbrain, hypothalamus, hippocampus and amygdala in the postnatal brain. Its signal intensity was high during critical periods of neonatal adaptation to novel environments. It was upregulated by various stimuli, including isoproterenol administration, whereas it was decreased by anesthesia but was maintained by milnacipran administration, suggesting its highly sensitive response to stressors, possible dependence on the arousal state and involvement in the NA reuptake process. In vitro mixed glial culture experiments demonstrated that Rtl4 is a microglial gene and suggested that RTL4 secretion responds rapidly to isoproterenol. Microglial RTL4 plays an important role in the NA response and possibly in the development of the NAergic neuronal network in the brain.

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33. Khan AA, Dewald HD. Nitric oxide and peroxynitrite as new biomarkers for early diagnosis of autism. Brain Res;2025 (Jan 8);1850:149438.

Autism spectrum disorder, or autism, is a neurodevelopmental disorder of the developing child’s brain with a genetic causality. It can be diagnosed at about three years after birth when it begins to present itself via a range of neuropsychiatric symptoms. Nitric oxide is a crucial small molecule of life synthesized within cells of our body systems, including cells of our brain. Peroxynitrite is the product of reaction between superoxide anion and nitric oxide. It normally isomerizes into harmless nitrates or nitrites. However, when excessive superoxide anion is present, the cellular concentration of peroxynitrite can increase to a toxic level. Autism has been suggested to cause oxidative damage to brain cells. Until now, it is impossible to sample tissue from a live brain. Instead, stem cells can be derived (from an autism patient’s somatic cells) which can then be differentiated and chemically directed to grow into miniature 3-dimensional tissue masses resembling specific brain regions (e.g., the cortex) called brain organoids. This review discusses utilizing nitric oxide and peroxynitrite as biomarkers and comparing their relative concentrations in stem cells and stem cell derived brain organoids of healthy and autistic individuals to develop a bioanalytical process for early diagnosis of autism.

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34. Kirenko J, Prokopiak A, Wodziński M. Predictors of Adaptive Behaviors in Individuals on the Autism Spectrum as Assessed by Teachers and Parents: An Analysis Based on ABAS-3. J Clin Med;2024 (Dec 13);13(24)

Objectives: This present study focuses on analyzing the adaptive behaviors of individuals on the autism spectrum as perceived by parents and teachers of these individuals. Methods: This study was conducted in Poland with the use of the ABAS-3 (Adaptive Behavior Assessment System). The ABAS-3 tool involves both parents (or primary caregivers) and teachers in the diagnostic process and monitoring of adaptive development. The study included 99 individuals (29 girls, 70 boys) aged between 5 and 21 years. Results: The analysis of the results showed statistically significant discrepancies in the perception of adaptive skills diagnosed as assessed by parents and teachers. Furthermore, differences were found in the predictors of the General Adaptive Composite and adaptive domains. Conclusions: The results indicate the complexity of the assessment of adaptive skills by a parent of a child with autism spectrum disorder, as well as a teacher, and the need to include different perspectives in the process of diagnosing and supporting individuals with ASD.

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35. Kılıç B, Kültür S. Comparison of children and adolescents diagnosed with attention deficit hyperactivity disorder with and without autism traits in terms of emotion regulation, clinical characteristics and functionality. J Neuropsychol;2025 (Jan 8)

This study aims to demonstrate that children and adolescents diagnosed with Attention Deficit Hyperactivity Disorder (ADHD) who exhibit autism traits have a more severe clinical profile in terms of emotion regulation, clinical features related to ADHD, and functionality, compared to those diagnosed with ADHD without these traits. 50 patients with and 64 patients without autism traits between the ages of 8-16 were recruited for the study among the children and adolescents diagnosed with ADHD. The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version, DSM-5-2016-Turkish Adaptation (K-SADS-PL-DSM-5-T) was used to exclude the diagnosis of Autism Spectrum Disorder (ASD) and detect comorbid psychiatric diagnosis. The Social Reciprocity Scale (SRS) was completed by parents to determine groups based on autism traits. Children completed the Childhood Anxiety Sensitivity Index (CASI) and the Affective Reactivity Index (ARI). The Strengths and Difficulties Questionnaire (SDQ), Affective Reactivity Index-Parent Report (ARI-P) and Weiss Functional Impairment Rating Scale-Parent Report (WFIRS-P) were completed by the parents. We found that the group with autism traits had significantly more hyperactivity/inattention, conduct problems, emotional problems, and peer problems and significantly more irritability and frequent separation anxiety disorder. Although there was no significant impairment in functionality in either group, the level of impairment was significantly higher in the group with autism traits. Children diagnosed with Attention Deficit Hyperactivity Disorder who exhibit autism traits experience higher levels of irritability and separation anxiety disorder, as well as greater impairment in functionality, compared to those without these traits.

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36. Lehr AW, McDaniel KF, Roche KW. Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins. Genes (Basel);2024 (Dec 14);15(12)

Background/Objectives: Neuroligins (NLGNs) are postsynaptic adhesion molecules critical for neuronal development that are highly associated with autism spectrum disorder (ASD). Here, we provide an overview of the literature on NLGN rare variants. In addition, we introduce a new approach to analyze human variation within NLGN genes to identify sensitive regions that have an increased frequency of ASD-associated variants to better understand NLGN function. Methods: To identify critical protein subdomains within the NLGN gene family, we developed an algorithm that assesses tolerance to missense mutations in human genetic variation by comparing clinical variants from ClinVar to reference variants from gnomAD. This approach provides tolerance values to subdomains within the protein. Results: Our algorithm identified several critical regions that were conserved across multiple NLGN isoforms. Importantly, this approach also identified a previously reported cluster of pathogenic variants in NLGN4X (also conserved in NLGN1 and NLGN3) as well as a region around the highly characterized NLGN3 R451C ASD-associated mutation. Additionally, we highlighted other, as of yet, uncharacterized regions enriched with mutations. Conclusions: The systematic analysis of NLGN ASD-associated variants compared to variants identified in the unaffected population (gnomAD) reveals conserved domains in NLGN isoforms that are tolerant to variation or are enriched in clinically relevant variants. Examination of databases also allows for predictions of the presumed tolerance to loss of an allele. The use of the algorithm we developed effectively allowed the evaluation of subdomains of NLGNs and can be used to examine other ASD-associated genes.

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37. Lin PI, Khin KS, John JR, Walker AK, Chen YC, Nayeem N, Messias E. The Association Between In Utero Exposure to Painkillers and Trajectories of Hyperactivity and Emotional Problems in Children with Autism Compared with Neurotypical Peers. Children (Basel);2024 (Dec 23);11(12)

Background/Objectives: In utero exposure to painkillers has raised concerns regarding its potential impact on neurodevelopmental disorders, such as autism spectrum disorder (ASD). This study investigates the association between in utero exposure to painkillers and trajectories of hyperactivity and emotional problems in children with and without ASD, separately. Methods: Data were drawn from 5107 participants enrolled in the Longitudinal Study of Australian Children. Emotional and behavioral problems were assessed using the Strengths and Difficulties Questionnaire at ages 4, 6, and 8 years. ASD diagnosis was determined based on parental self-report by age 12. To examine the association between the exposure and the outcomes, mixed linear models were applied to assess the impact of in utero exposure to painkillers on hyperactivity and emotional problems, controlling for sex, time, and other perinatal risk factors. The interaction term between exposure and time was included to evaluate the effect of exposure on the trajectory over time. Results: In utero exposure to painkillers did not significantly affect hyperactivity or emotional problem trajectories in children with ASD. However, in non-ASD children, painkiller exposure was associated with worsening emotional problems by age 8, with males being affected to a greater extent than females. Further, emotional problem scores increased over time by gender, reflecting developmental challenges in early childhood. Conclusions: These findings indicate that prenatal painkiller exposure is unlikely to be a major determinant of the severity of neurodevelopmental outcomes in autistic children, but its role in neurodevelopmental outcomes among neurotypical children warrants further investigation. Future research should prioritize precise exposure assessments and integrate multi-environment interactions to further elucidate the long-term impacts of prenatal painkiller use.

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38. Logrieco MG, Annechini E, Casula L, Guerrera S, Fasolo M, Vicari S, Valeri G. Nonverbal Skills Evolution in Children with Autism Spectrum Disorder One Year Post-Diagnosis. Children (Basel);2024 (Dec 14);11(12)

Background: Gestural production, a crucial aspect of nonverbal communication, plays a key role in the development of verbal and socio-communicative skills. Delays in gestural development often impede verbal acquisition and social interaction in children with Autism Spectrum Disorder (ASD). Although various interventions for ASD focus on improving socio-communicative abilities, they consistently highlight the importance of integrating gestures to support overall communication development. This study aimed to investigate the progression of gestural production in preschoolers with ASD one year post-diagnosis, taking into account whether they had received interventions for ASD. Method: This study followed 76 Italian preschoolers with ASD, aged 2 to 4 years, who underwent three different types of interventions or no intervention at all. Data on gestural production were collected using the MCDI, a standardized parent-proxy report. Results: The results indicate that all groups, regardless of intervention type, experienced increased gesture production, suggesting that interventions, combined with factors like time, symptom severity, and learning differences unique to ASD, positively influence nonverbal communication. This improvement may be due to various factors. On one hand, joint attention and socio-communicative interactions drive progress, while on the other, children with ASD may benefit from learning through non-socially mediated linguistic material. Conclusions: These findings highlight the need to understand individual learning preferences and strategies for developing nonverbal communication skills in children with ASD. Identifying effective strategies early on can enhance both diagnosis and intervention planning, ensuring they are tailored to the specific developmental needs of each child.

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39. Lyall K, Dickerson AS, Green AM, Frndak S, Croen LA, Ames JL, Avalos LA, Aschner JL, Bush NR, Camargo CA, Jr., D’Sa V, Dager SR, Dunlop AL, Ferrara A, Ganiban JM, Gern JE, Gissandaner TD, Graff JC, Hertz-Picciotto I, Hipwell AE, Ma T, Miller M, Murphy L, Karagas MR, Kelly RS, Margolis A, Koinis-Mitchell D, McEvoy CT, Messinger D, Nguyen R, Oken E, Ozonoff S, Page GP, Schantz SL, Schmidt RJ, Shuster CL, Schweitzer JB, Sheinkopf SJ, Stanford JB, Trevino CO, Weiss ST, Volk HE, Joseph RM. Demographic Correlates of Autism: How Do Associations Compare Between Diagnosis and a Quantitative Trait Measure?. Autism Res;2025 (Jan 8)

Prevalence of autism diagnosis has historically differed by demographic factors. Using data from 8224 participants drawn from the Environmental influences on Child Health Outcomes (ECHO) Program, we examined relationships between demographic factors and parent-reported autism-related traits as captured by the Social Responsiveness Scale (SRS; T score > 65) and compared these to relations with parent-reported clinician diagnosis of ASD, in generalized linear mixed effects regression analyses. Results suggested lower odds of autism diagnosis, but not of SRS T > 65, for non-Hispanic Black children (adjusted odds ratio [OR] = 0.76, 95% CI 0.55, 1.06) relative to non-Hispanic White children. Higher maternal education was associated with reduced odds of both outcomes (OR = 0.73, 95% CI 0.51, 1.05 for ASD autism diagnosis and 0.4, 95% CI 0.29, 0.55 for SRS score). In addition, results suggested a lower likelihood of autism diagnosis but a higher likelihood of an SRS score > 65 in Black girls. Findings suggest lower diagnostic recognition of autism in non-Hispanic Black children, despite a similar degree of SRS-assessed autism-related traits falling in the clinically elevated range. Further work is needed to address this disparity.

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40. Ma K, McDaniel K, Zhang D, Webb M, Qin L. Chemogenetic Inhibition of Prefrontal Cortex Ameliorates Autism-Like Social Deficits and Absence-Like Seizures in a Gene-Trap Ash1l Haploinsufficiency Mouse Model. Genes (Basel);2024 (Dec 18);15(12)

BACKGROUND: ASH1L (absent, small, or homeotic-like 1), a histone methyltransferase, has been identified as a high-risk gene for autism spectrum disorder (ASD). We previously showed that postnatal Ash1l severe deficiency in the prefrontal cortex (PFC) of male and female mice caused seizures. However, the synaptic mechanisms underlying autism-like social deficits and seizures need to be elucidated. OBJECTIVE: The goal of this study is to characterize the behavioral deficits and reveal the synaptic mechanisms in an Ash1l haploinsufficiency mouse model using a targeted gene-trap knockout (gtKO) strategy. METHOD: A series of behavioral tests were used to examine behavioral deficits. Electrophysiological and chemogenetic approaches were used to examine and manipulate the excitability of pyramidal neurons in the PFC of Ash1l(+/GT) mice. RESULTS: Ash1l(+/GT) mice displayed social deficits, increased self-grooming, and cognitive impairments. Epileptiform discharges were found on electroencephalograms (EEGs) of Ash1l(+/GT) mice, indicating absence-like seizures. Ash1l haploinsufficiency increased the susceptibility for convulsive seizures when Ash1l(+/GT) mice were challenged by pentylenetetrazole (PTZ, a competitive GABA(A) receptor antagonist). Whole-cell patch-clamp recordings showed that Ash1l haploinsufficiency increased the excitability of pyramidal neurons in the PFC by altering intrinsic neuronal properties, enhancing glutamatergic synaptic transmission, and diminishing GABAergic synaptic inhibition. Chemogenetic inhibition of pyramidal neurons in the PFC of Ash1l(+/GT) mice ameliorated autism-like social deficits and abolished absence-like seizures. CONCLUSIONS: We demonstrated that increased neural activity in the PFC contributed to the autism-like social deficits and absence-like seizures in Ash1l(+/GT) mice, which provides novel insights into the therapeutic strategies for patients with ASH1L-associated ASD and epilepsy.

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41. Manter MA, Birtwell KB, Bath J, Friedman NDB, Keary CJ, Neumeyer AM, Palumbo ML, Thom RP, Stonestreet E, Brooks H, Dakin K, Hooker JM, McDougle CJ. Pharmacological treatment in autism: a proposal for guidelines on common co-occurring psychiatric symptoms. BMC Med;2025 (Jan 7);23(1):11.

BACKGROUND: The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020. Autistic individuals face elevated rates of co-occurring medical, psychiatric, and behavioral conditions compared to non-autistic individuals. The rising ASD-patient demand is increasingly outpacing the capacity of ASD-specialty clinics, resulting in urgent need for autism-competent providers in general practice settings. This work aims to empower healthcare providers, especially primary care providers (PCPs), with guidelines for the recognition and safe pharmacologic management of common co-occurring psychiatric and behavioral conditions in ASD. METHODS: Lurie Center for Autism medical providers, who have extensive experience in ASD care, delineated approaches for recognition and pharmacological treatment of sleep disturbances, attention-deficit/hyperactivity disorder (ADHD), anxiety, depression, and irritability tailored to ASD patients. Pharmacological guidelines were iteratively refined until consensus was reached. Treatment differences relative to standard of care (SOC) of non-autistic individuals are noted. Key literature and clinical trial results were reviewed to supplement clinical experience. RESULTS: The pharmacological treatment pathways reflect how appropriate medication options for ASD patients can depend on many factors unique to the patient and can differ from established non-autistic SOC. Key takeaways include: For sleep disturbances in ASD, initial strategies align with non-autistic SOC, emphasizing sleep hygiene and melatonin use. First-line recommendations for treating ADHD, anxiety, and depression in ASD differ from non-autistic SOC; α(2)-adrenergic agonists are more suitable than stimulants for some ASD-ADHD patients, buspirone and mirtazapine are preferred to selective serotonin reuptake inhibitors (SSRIs) for anxiety, and duloxetine, mirtazapine, bupropion, and vortioxetine are recommended ahead of SSRIs for depression. Addressing irritability in ASD requires interdisciplinary evaluation of contributing factors, and guanfacine, risperidone, or aripiprazole may be appropriate, depending on severity. CONCLUSIONS: Recognition and treatment of co-occurring psychiatric and behavioral conditions in autistic patients must account for differences in clinical presentation and medication effectiveness and tolerability. Drawing on evidence-based clinical insights, these guidelines seek to support PCPs in making informed decisions when prescribing medications for ASD patients with co-occurring psychiatric and behavioral conditions, ultimately enhancing access to timely, comprehensive care for all individuals with ASD.

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42. Martínez-González AE, Cervin M, Piqueras JA, Infante-Cañete L, Pérez-Sánchez S. Development and Psychometric Properties of the Pain and Sensitivity Reactivity Scale in a Diverse Sample of Autistic People. Children (Basel);2024 (Dec 23);11(12)

BACKGROUND: Recent studies indicate the need to examine how the gut microbiota-brain axis is implicated in pain, sensory reactivity and gastro-intestinal symptoms in autism spectrum disorder (ASD), but no scale exists that assesses all these constructs simultaneously. METHODS: We created a pool of 100 items based on the real-world experience of autistic people, and a multidisciplinary team and stakeholders reduced this pool to 50 items assessing pain, sensory hypersensitivity, and sensory hyposensitivity. In the present study, we present this new assessment tool, the Pain and Sensitivity Reactivity Scale (PSRS), and examine its psychometric properties in a sample of 270 individuals with autism spectrum disorder (ASD; mean age = 9.44, SD = 4.97), of which almost half (45%) had intellectual disability (ID). RESULTS: A factorial model of three factors (pain, hyporeactivity, and hyperreactivity) and five specific factors for sensory hypo- and hyperreactivity, respectively, fitted the data well. Good to excellent internal consistency and adequate test-retest reliability was found for most PSRS scales. Sound psychometric properties were found in individuals with and without ID. Correlations with other measures of sensory sensitivity and pain indicated sound convergent validity. CONCLUSIONS: PSRS shows promise as a reliable measure to analyze pain and sensory reactivity in autistic people regardless of whether they have ID or not. The measure overcomes several limitations of previous assessment tools and includes variables that are important for the understanding of the gut microbiota-brain axis in ASD.

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43. Mascari M, Cohen N, Yao M, Huang J, Lane J, Reeves KW, Balasubramanian R, Liu Z, Laouali N, Daniel LM, Chen CY, Seng CY, Shiao-Yng C, Kee MZL, Valvi D, Oulhote Y. Associations of cord blood concentrations of perfluoroalkyl substances with autistic traits in Singaporean children: The growing up in Singapore towards healthy outcomes study. Chemosphere;2025 (Jan 8);371:144040.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Environmental pollutants may contribute to the etiology of ASD, but studies of perfluoroalkyl substances (PFAS) have shown conflicting results. OBJECTIVES: We assessed associations between cord blood concentrations of PFAS with autistic traits at age seven years in a Singaporean birth cohort. METHODS: We measured cord blood concentrations of eight PFAS in a sample of 430 mother-child pairs from the Growing Up in Singapore Towards Healthy Outcomes (GUSTO) cohort. We assessed autistic traits using the Social Responsiveness Scale Second Edition (SRS-2) and its sub-scores, in which higher scores indicate more autistic traits. We estimated covariate-adjusted associations between the PFAS and SRS-2 scores using Bayesian weighted quantile sum (BWQS) regression models for the PFAS mixtures and multivariable regressions for single PFAS. We additionally evaluated effect modification by biological sex. RESULTS: We observed a positive association between the PFAS mixture and SRS-2 cognition sub-scores (β per SD increase = 1.25 points, 95% CI -0.03, 2.40). Perfluorononanoic acid (PFNA) was the strongest contributor to the mixture effect. In single PFAS models, exposure to PFNA was associated with a higher SRS-2 total score (β = 0.93 points, 95% CI 0.29, 1.58), cognition sub-score (β = 1.26 points, 95% CI 0.55, 1.97), communication sub-score (β = 0.88 points, 95% CI 0.20, 1.56), and restrictive and repetitive behaviors sub-score (β = 0.93 points, 95% CI 0.23, 1.63). We also observed evidence of effect modification by sex for perfluoroundecanoic acid (PFUnDA) for the total score (p-effect modification [EM] = 0.03), cognition sub-score (p-EM = 0.03), and communication sub-score (p-EM = 0.04), with negative associations seen in females and null associations in males. DISCUSSION: Cord blood PFAS concentrations were positively associated with autistic traits measured by SRS-2.

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44. Pancheva R, Toneva A, Bocheva Y, Georgieva M, Koleva K, Yankov I. Prevalence of vitamin D deficiency in children with cerebral palsy and autism spectrum disorder: a comparative pilot study. Folia Med (Plovdiv);2024 (Dec 31);66(6):787-794.

This study aims to explore the prevalence of vitamin D deficiency (VDD) among children with cerebral palsy (CP) and autism spectrum disorder (ASD) in Bulgaria, while analyzing associated demographic, nutritional, and biochemical factors.

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45. Pietramala K, Greco A, Garoli A, Roblin D. Effects of Extremely Low-Frequency Electromagnetic Field Treatment on ASD Symptoms in Children: A Pilot Study. Brain Sci;2024 (Dec 22);14(12)

BACKGROUND/OBJECTIVES: Autism Spectrum Disorder (ASD) are neurodevelopmental disorders marked by challenges in social interaction, communication, and repetitive behaviors. People with ASD may exhibit repetitive behaviors, unique ways of learning, and different ways of interacting with the world. The term « spectrum » reflects the wide variability in how ASD manifests in individuals, including differences in abilities, symptoms, and support needs, and conditions characterized by difficulties in social interactions, communication, restricted interests, and repetitive behaviors. Inflammation plays a crucial role in the pathophysiology, with increased pro-inflammatory cytokines in cerebrospinal fluid. Previous studies with transcranial magnetic stimulation have shown promising results, suggesting nervous system susceptibility to electromagnetic fields, with evidence indicating that extremely low-frequency electromagnetic field (ELF-EMF) treatment may modulate inflammatory responses through multiple pathways, including the reduction of pro-inflammatory cytokines like IL-6 and TNF-α, and the enhancement of anti-inflammatory mediators. METHODS: This pilot study included 20 children (ages 2-13) with a confirmed diagnosis of ASD. A 15-week protocol involved ELF-EMF treatments using the SEQEX device, with specific day and night programs. Assessment was conducted through standardized pre- and post-treatment tests: Achenbach Child Behavior Checklist, Peabody Picture Vocabulary Test-4, Expressive One Word Picture Vocabulary Test-4, and Conner’s 3GI. RESULTS: Statistically significant improvements were observed in receptive language (PPVT-4: from 74.07 to 90.40, p = 0.002) and expressive language (EOWPVT-4: from 84.17 to 90.50, p = 0.041). Notable reductions, with statistical significance, were found in externalizing problems across both age groups (1.5-5 years: p = 0.028; 6-18 years: p = 0.027), with particular improvement in attention and behavioral problems. The results were observed over a short period of 15 weeks, therefore excluding the possibility of coincidental age-related gains, that would typically occur during a normal developmental timeframe. Parent evaluations showed significant reduction in ASD symptoms, particularly in the 1.5-5 years group (p = 0.046). CONCLUSIONS: ELF-EMF treatment demonstrated a high safety profile and efficacy in mitigating ASD-related symptoms. The observed improvements suggest both direct effects on central and autonomic nervous systems and indirect effects through inflammatory response modulation. Further studies are needed to confirm these promising results through broader demographics and randomized control designs.

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46. Porter C, Whitehead R, Hopkins L. Understanding Autism as a Condition in Mental Health Clinical Practice: Clinical Perspectives from a Youth Early Psychosis Service. Community Ment Health J;2025 (Jan 8)

Autism is a rapidly growing phenomenon, with rates of diagnosed autism in the community rising every decade. Autism and traits of autism are also regularly part of presentation at youth mental health services, including early psychosis services. In early psychosis services young people’s symptoms tend to be formulated through a psychosis lens, rather than a neurodevelopmental lens which can lead to unnecessary medicalised treatment, and treatment plans that do not consider the possible impact of neurodiversity. The following paper explores autism and traits of autism in relation to youth early psychosis, examining the complexity in accurate formulation, and the possible impacts for young people. Future directions for how services can address this issue and more effectively tailor treatment to young people are also discussed.

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47. Portolese J, Gomes CS, Daguano Gastaldi V, Paula CS, Caetano SC, Bordini D, Brunoni D, Mari JJ, Vêncio RZN, Brentani H. A Normative Model Representing Autistic Individuals Amidst Autism Spectrum Phenotypic Heterogeneity. Brain Sci;2024 (Dec 14);14(12)

BACKGROUND: Currently, there is a need for approaches to understand and manage the multidimensional autism spectrum and quantify its heterogeneity. The diagnosis is based on behaviors observed in two key dimensions, social communication and repetitive, restricted behaviors, alongside the identification of required support levels. However, it is now recognized that additional modifiers, such as language abilities, IQ, and comorbidities, are essential for a more comprehensive assessment of the complex clinical presentations and clinical trajectories in autistic individuals. Different approaches have been used to identify autism subgroups based on the genetic and clinical heterogeneity, recognizing the importance of autistic behaviors and the assessment of modifiers. While valuable, these methods are limited in their ability to evaluate a specific individual in relation to a normative reference sample of autistic individuals. A quantitative score based on axes of phenotypic variability could be useful to compare individuals, evaluate the homogeneity of subgroups, and follow trajectories of an individual or a specific group. Here we propose an approach by (i) combining measures of phenotype variability that contribute to clinical presentation and could impact different trajectories in autistic persons and (ii) using it with normative modeling to assess the clinical heterogeneity of a specific individual. METHODS: Using phenotypic data available in a comprehensive reference sample, the Simons Simplex Collection (n = 2744 individuals), we performed principal component analysis (PCA) to find components of phenotypic variability. Features that contribute to clinical heterogeneity and could impact trajectories in autistic people were assessed by the Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS) and the Child Behavior Checklist (CBCL). Cognitive assessment was estimated by the Total Intelligence Quotient (IQ). RESULTS: Three PCs embedded 72% of the normative sample variance. PCA-projected dimensions supported normative modeling where a multivariate normal distribution was used to calculate percentiles. A Multidimensional General Functionality Score (MGFS) to evaluate new prospective single subjects was developed based on percentiles. CONCLUSIONS: Our approach proposes a basis for comparing individuals, or one individual at two or more times and evaluating homogeneity in phenotypic clinical presentation and possibly guides research sample selection for clinical trials.

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48. Prince N, Peralta Marzal LN, Roussin L, Monnoye M, Philippe C, Maximin E, Ahmed S, Salenius K, Lin J, Autio R, Adolfs Y, Pasterkamp RJ, Garssen J, Naudon L, Rabot S, Kraneveld AD, Perez-Pardo P. Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism. Gut Microbes;2025 (Dec);17(1):2447822.

Several factors are linked to the pathophysiology of autism spectrum disorders (ASD); however, the molecular mechanisms of the condition remain unknown. As intestinal problems and gut microbiota dysbiosis are associated with ASD development and severity, recent studies have focused on elucidating the microbiota-gut-brain axis’ involvement. This study aims to explore mechanisms through which gut microbiota might influence ASD. Briefly, we depleted the microbiota of conventional male BALB/cAnNCrl (Balb/c) and C57BL/6J (BL/6) mice prior to human fecal microbiota transplantation (hFMT) with samples from children with ASD or their neurotypical siblings. We found mouse strain-specific responses to ASD hFMT. Notably, Balb/c mice exhibit decreased exploratory and social behavior, and show evidence of intestinal, systemic, and central inflammation accompanied with metabolic shifts. BL/6 mice show less changes after hFMT. Our results reveal that gut microbiota alone induce changes in ASD-like behavior, and highlight the importance of mouse strain selection when investigating multifactorial conditions like ASD.

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49. Protic D, Polli R, Bettella E, Usdin K, Murgia A, Tassone F. Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance. Int J Mol Sci;2024 (Dec 21);25(24)

Fragile X syndrome (FXS) is a genetic condition caused by the inheritance of alleles with >200 CGG repeats in the 5′ UTR of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. These full mutation (FM) alleles are associated with DNA methylation and gene silencing, which result in intellectual disabilities, developmental delays, and social and behavioral issues. Mosaicism for both the size of the CGG repeat tract and the extent of its methylation is commonly observed in individuals with the FM. Mosaicism has also been reported in carriers of premutation (PM) alleles, which have 55-200 CGG repeats. PM alleles confer risk for the fragile X premutation-associated conditions (FXPAC), including FXTAS, FXPOI, and FXAND, conditions thought to be due to the toxic consequences of transcripts containing large CGG-tracts. Unmethylated FM (UFM) alleles are transcriptionally and translationally active. Thus, they produce transcripts with toxic effects. These transcripts do produce some FMRP, the encoded product of the FMR1 gene, albeit with reduced translational efficiency. As a result, mosaicism can result in a complex clinical presentation. Here, we review the concept of mosaicism in both FXS and in PM carriers, including its potential clinical significance.

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50. Sainsbury WJ, Whitehouse AJO, Woods L, Jiang T, Waddington H. Child and Family Characteristics Associated with Symptoms of Anxiety in Autistic Children: A Biobank Study. J Autism Dev Disord;2025 (Jan 8)

PURPOSE: Autistic children have an increased likelihood of anxiety, but more research is needed on the characteristics that predict various types of anxiety in this population. METHODS: In this study, we examined a range of child and family predictors of various types of anxiety using a sample of 452 autistic children from the Australian Autism Biobank. We used logistic regression to examine child and family predictors of four common types of anxiety in autistic children: generalised, phobic, separation, and social anxiety. RESULTS: We found that 62.8% of children in this sample had symptoms of at least one type of anxiety. Poor quality sleep habits were the only predictive factor consistently identified across all anxiety symptom types. Specific to children with indicated generalised, separation, and phobic anxiety symptoms were the predictive factors of being older than five years, and specific to generalised and social anxiety were the predictive factors of higher cognitive abilities. Maternal anxiety was also a predictive factor in indicated children’s separation anxiety. CONCLUSION: These findings can help inform the provision of more targeted support for autistic people, particularly the interaction of poor sleep habits and anxiety symptoms.

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51. Schrickel A, Groeneweg J, Dekeyster E. Exploring the potential of the ketogenic diet in autism spectrum disorder: metabolic, genetic, and therapeutic insights. Metab Brain Dis;2025 (Jan 8);40(1):94.

Current treatment approaches for Autism spectrum disorder (ASD) primarily focus on symptom management rather than addressing underlying dysfunctions. The ketogenic diet (KD), a high-fat, low-carbohydrate diet inducing nutritional ketosis, has shown promise in treating epilepsy and may offer therapeutic benefits for ASD by modulating metabolic and neuroprotective pathways. This review examined the potential impact of KD on underlying mechanisms in ASD. While evidence from human studies on underlying mechanisms is limited, animal research has shown a large overlap of mechanisms modulated by KD and dysfunctions in ASD. As such, targeting multiple disrupted pathways at once, KD presents a potential multifaceted treatment approach for ASD. However, more evidence from human studies is needed on the effectiveness of KD in the modulation of underlying dysfunctions in ASD. Additionally, precision medicine approaches could help identify individuals who would benefit most from the intervention, potentially extending its use to other psychiatric conditions with similar metabolic patterns. Consequently, KD interventions might show the potential to induce a drastic paradigm shift in understanding and treating ASD.

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52. Scuotto RS, Bonfanti S, Ricciardelli P. The « Reading the Mind in Films » Task: A Pilot Study on Complex Emotion and Mental State Recognition for the Italian Adaptation in Adults with and Without Autism Spectrum Conditions. Brain Sci;2024 (Dec 11);14(12)

Background/Objectives: The present pilot study tested and reports the Italian adaptation of the Reading the Mind in Film test (RMF), an ecological test for assessing, in Italian adults with and without Autism Spectrum Condition (ASC), complex emotion and mental state recognition in natural settings and everyday situations. Method: A sample of young adults with Autism Spectrum Condition (with ASC; n = 22), attending a filmmaking course at a post-diploma school (Scuola Futuro Lavoro) took part in the study and was compared with a control group of neurotypical university students (without ASC; n = 22). All participants underwent individual testing and completed the Italian version of the Autism Questionnaire before performing the Italian version of both the RMF task and the Reading the Mind in the Eyes Test (RMET). The latter, widely used to evaluate the ability to detect what someone else is thinking or feeling from the eye region. Results: The findings of the control group were in line with the original study, demonstrating the validity and reliability of the translation and the dubbing procedure of the RMF test. However, no main significant differences in performance were found between the two groups. Conclusions: Such results suggest that taking a course in film and video making may have helped the autistic students learn how to recognize mental states.

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53. Singh J, Santosh P. The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome. Genes (Basel);2024 (Dec 5);15(12)

Genomic sequencing has the potential to revolutionise newborn screening (NBS) programmes. In 2024, Genomics England began to recruit for the Generation Study (GS), which uses whole genome sequencing (WGS) to detect genetic changes in 500 genes in more than 200 rare conditions. Ultimately, its purpose is to facilitate the earlier identification of rare conditions and thereby improve health-related outcomes for individuals. The adoption of rare conditions into the GS was guided by four criteria: (1) the gene causing the condition can be reliably detected; (2) if undiagnosed, the rare condition would have a serious impact; (3) early or presymptomatic testing would substantially improve outcomes; and (4) interventions for conditions screened are accessible to all. Rett syndrome (RTT, OMIM 312750), a paediatric neurodevelopment disorder, was not included in the list of rare conditions in the GS. In this opinion article, we revisit the GS and discuss RTT from the perspective of these four criteria. We begin with an introduction to the GS and then summarise key points about the four principles, presenting challenges and opportunities for individuals with RTT. We provide insight into how data could be collected during the presymptomatic phase, which could facilitate early diagnosis and improve our understanding of the prodromal stage of RTT. Although many features of RTT present a departure from criteria adopted by the GS, advances in RTT research, combined with advocacy from parent-based organisations, could facilitate its entry into future newborn screening programmes.

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54. Smith-Young J, Chafe R. Waiting and the unknown: parental experiences accessing autism spectrum disorder diagnostic services for their children. JBI Evid Synth;2025 (Jan 1);23(1):4-5.

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55. Sterling A, Lorang E, Reis K, Elmquist M. The Impact of Autistic Traits on Joint Attention in Young Children With Down Syndrome During Mother-Child and Father-Child Interactions. Am J Speech Lang Pathol;2025 (Jan 8):1-11.

PURPOSE: Joint attention predicts later language in Down syndrome (DS) and autism. The co-occurrence of autism in children with DS is 6%-19%, which is higher than in the general population. However, little is known about how co-occurring autism in DS impacts the development of joint attention. This study compared mother-child and father-child interactions in families of children with DS. Our purpose was to investigate differences in caregiver joint-attention bids and whether caregiver and child joint attention were associated with autistic traits and receptive language in children with DS. METHOD: Fifteen children with DS (M(age) = 39.67 months) and their biological caregivers participated in the current study. We collected mother-child and father-child interactions in participant’s homes. Using Wilcoxon signed-ranks tests, we examined if there were differences in mothers’ and fathers’ joint attention bids and if children responded differently to their bids. We used Spearman correlations to examine the associations between child autistic traits, receptive language, and caregiver and child joint attention. RESULTS: We found that mothers initiated more joint-attention bids than fathers but did not find differences in child responsiveness or initiations based on communication partner. Mothers used more bids when children had more autistic traits. Child autistic traits were negatively correlated with child responsiveness to father joint-attention bids. Children with more autistic traits produced fewer joint-attention bids with both caregivers. CONCLUSIONS: Findings suggest mothers and fathers may use differing approaches to support their child’s language development. Regardless of communication partner, children with more autistic traits engaged in fewer instances of joint attention.

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56. Tateno M, Shimomura R, Shiraishi E, Nanba K, Tateno Y. Gender Dysphoria and Related Symptoms in Autism Spectrum Disorder: A Bilingual Review of the Literature. Brain Sci;2024 (Nov 28);14(12)

The association between autism spectrum disorder (ASD) and gender dysphoria (GD) has attracted a great deal of interest among child and adolescent psychiatrists in Japan. In clinical settings, it is common to hear complaints or concerns related to GD from adolescents with ASD. In the past few years, several review articles have been published on ASD and GD. The Initial Clinical Guidelines for co-occurring ASD and GD in adolescents were published in 2018, suggesting the increasing need of intervention for these conditions worldwide. Although a large amount of evidence has been accumulated regarding the co-occurrence of ASD and GD, all review articles were based solely on case reports and articles published in English. In this article, we performed a bilingual literature review using English- and Japanese-language literature databases. We found 13 case reports in English and 11 case reports in Japanese. The Japanese literature included articles on gender-related symptoms in ASD, but not limited to ASD with comorbid GD. Wattel and her colleagues proposed 15 theories on the link between ASD and GD. We classified the reported cases into one or more of the fifteen theories proposed by Wattel. These theories seemed useful in understanding the co-occurrence of ASD and GD, especially in AMAB cases. Wattel’s 15 theories are categorized into biological, psychological, and social factors, respectively. With regard to the social factors, we discussed Japanese school culture and psychological burden among gender-dysphoric students. Further studies are awaited.

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57. Tetreault J, Andres EM, Sipsock D, Tokadjian H, Layton K, McCormick CEB, Sheinkopf SJ. Affect Expression During Social and Non-Social Contexts in Autistic Young Adults. J Autism Dev Disord;2025 (Jan 8)

Autism spectrum disorder (ASD) is characterized by impairments in social affective engagement. The present study uses a mild social stressor task to add to inconclusive past literature concerning differences in affective expressivity between autistic young adults and non-autistic individuals from the general population (GP). Young adults (mean age = 21.5) diagnosed with ASD (n = 18) and a non-autistic comparison group (n = 17) participated in the novel social stress task. Valence (positive/negative) and intensity of facial affect were coded across four observational episodes that alternated between engagement and disengagement of social conversational partner. Results indicated an overall attenuation in expressivity in the ASD group in comparison to the non-autistic group. Mean affect differed between groups, especially in the amount of affective expression. Both groups responded with increased positive expressions during social engagement episodes. The affect difference was driven by a smaller proportion of positive and a greater proportion of neutral affect displays in the ASD group compared to the non-autistic group during these episodes, and less so by negative affect differences. The results suggest that friendly, non-threatening social interactions should not be assumed to be aversive to autistic individuals, and that these individuals may respond to such situations with muted positive valence. These findings are consistent with past reports of decreased expressivity in autistic individuals compared to individuals from the general population, specifically in an ecologically valid social context.

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58. Villegas Lirola F, Codina Sánchez A. Relevant Factors in the Schooling of Children with Autism Spectrum Disorder in Early Childhood Education. Brain Sci;2024 (Nov 22);14(12)

BACKGROUND: Educational professionals face significant challenges in determining the most appropriate educational placement for each child with ASD, which is a major concern for their parents. The purpose of this paper is to identify the factors in the development of students with ASD (language development, cognitive development, and socio-emotional development) that are most relevant in determining the modalities of schooling in early childhood education. METHODS: A total of 381 Psychopedagogical Evaluation Reports from students with ASD aged 3 to 5 years were reviewed. The importance of each variable was identified using artificial neural network analysis. Classification trees were used to determine their distribution in the two schooling modalities. RESULTS: A total of 42.9% of boys aged 3-5 years with ASD and 54.12% of girls aged 3-5 years with ASD were enrolled in specific modalities. CONCLUSIONS: Cognitive development and comprehensive language were the two variables that best explained whether children with ASD were educated in specific or ordinary modalities. The presence of a significantly impaired level of cognitive development was the best predictor of schooling in specific modalities, and for the rest of the cognitive levels, the greater the difficulties in comprehensive language, the greater the likelihood of schooling in specific modalities.

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59. Wang HT, Lyu JL, Chien SH. Dynamic Emotion Recognition and Expression Imitation in Neurotypical Adults and Their Associations with Autistic Traits. Sensors (Basel);2024 (Dec 19);24(24)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and communication. While many studies suggest that individuals with ASD struggle with emotion processing, the association between emotion processing and autistic traits in non-clinical populations is still unclear. We examine whether neurotypical adults’ facial emotion recognition and expression imitation are associated with autistic traits. We recruited 32 neurotypical adults; each received two computerized tasks, the Dynamic Emotion Recognition and Expression Imitation, and two standardized measures: the Chinese version AQ and the Twenty-Item Prosopagnosia Index (PI-20). Results for the dynamic emotion recognition showed that happiness has the highest mean accuracy, followed by surprise, sadness, anger, fear, and disgust. For expression imitation, it was easiest to imitate surprise and happiness, followed by disgust, while the accuracy of imitating sadness, anger, and fear was much lower. Importantly, individual AQ scores negatively correlated with emotion recognition accuracy and positively correlated with PI-20. The AQ imagination, communication sub-scores, and PI-20 positively correlated with the expression imitation of surprise. In summary, we found a significant link between recognizing emotional expressions and the level of autistic traits in non-clinical populations, supporting the concept of broader autism phenotype.

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60. Wang J, Zhang J, Li J, Gao Q, Chen J, Jia C, Gu X. Cortex-specific Tmem169 Deficiency Induces Defects in Cortical Neuron Development and Autism-like Behaviors in Mice. J Neurosci;2025 (Jan 8)

The development of the nervous system is a complex process, with many challenging scientific questions yet to be resolved. Disruptions in brain development are strongly associated with neurodevelopmental disorders, such as intellectual disability and autism. While the genetic basis of autism is well established, the precise pathological mechanisms remain unclear. Variations on chromosome 2q have been linked to autism, yet the specific genes responsible for the disorder have not been identified. This study investigates the role of the transmembrane protein 169 (Tmem169) gene, located on human chromosome 2q35, which has not been previously characterized. Our findings indicate that Tmem169 is highly expressed in the nervous system, and its deletion in the male mouse dorsal forebrain results in neuronal morphological abnormalities and synaptic dysfunction. Notably, Tmem169-deficient mice, irrespective of sex, display behavioral traits resembling those observed in individuals with autism. These results suggest that Tmem169 interacts with several key neuronal proteins, many of which are implicated in neurodevelopmental diseases. Furthermore, we demonstrate that Tmem169 promotes neuronal process and synapse development through its interaction with Shank3.Significance statement The prevalence of autism worldwide is estimated to be around 1-2%, causing significant burdens for both patients and their families. Our research reveals that Tmem169 not only interacts with important protein products of genes associated with autism, but also influences the levels of many critical synaptic proteins at synapses. We also demonstrated Tmem169 modulates neuronal process and synapse development at least partially via Shank3. Specific knockout of the Tmem169 gene in the cortex of mice induce autism-like behaviors. These findings provide the first insight into the role of the Tmem169 gene in neurodevelopment and offer new avenues for potential treatments and serve as an important theoretical basis for early screening and enhancing population quality related to autism.

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61. Yang VJH, Bergman KN, Cummings EM. Testing a Family Conflict Intervention for Parents and Typically Developing Adolescent Siblings of Individuals with Intellectual and/or Developmental Disabilities. Int J Environ Res Public Health;2024 (Dec 13);21(12)

Parents and typically developing (TD) youth siblings of individuals with intellectual and/or developmental disabilities (IDD) often experience greater caregiving burden, stress, and hardships in family functioning. They are at increased risk of family conflict and youth adjustment problems when TD siblings are adolescents since they need to balance caregiving responsibilities and various changes that naturally occur during adolescence. However, there is a lack of intervention research on parents and TD adolescent siblings that focuses on family conflict and family-wide participation. This study analyzed whether participating in a brief family intervention could improve families’ knowledge of marital and family-wide conflict and TD adolescents’ adjustment problems. We found that mothers and fathers significantly improved their knowledge of marital conflict and that TD adolescents significantly improved their knowledge of family-wide conflict. We also found that fathers reported significant reductions in internalizing and externalizing problems in TD adolescents. The findings support the impact of even brief evidence-based interventions targeting family-level improvements for families with both TD adolescent siblings and individuals with IDD. The findings also accentuate the significance of involving both mothers and fathers in family intervention research, suggesting that different caregivers may experience both shared and unique benefits from participating.

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62. Zarghami M. Misuse of the Term Retrospective Cohort. Comment on Alsayouf et al. Atomoxetine Treatment of Attention Deficit/Hyperactivity Disorder Symptoms in 3-6-Year-Old Children with Autism Spectrum Disorder: A Retrospective Cohort Study. Children 2024, 11, 163. Children (Basel);2024 (Dec 19);11(12)

Recently, an article entitled « Atomoxetine Treatment of Attention Deficit/Hyperactivity Disorder Symptoms in 3-6-Year-Old Children with Autism Spectrum Disorder: A Retrospective Cohort Study » was published in the journal Children. In this letter, the methodology of the mentioned study is discussed.

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63. Zhang C, Yang L, Wang F, Liu M, Liu Z, Zou M, Wu L. Therapeutic Efficacy of a Synthetic Brain-Targeted H(2)S Donor Cross-Linked Nanomicelle in Autism Spectrum Disorder Rats through Aerobic Glycolysis. ACS Appl Mater Interfaces;2025 (Jan 8);17(1):157-173.

Autism spectrum disorder (ASD) is characterized by cognitive inflexibility and social deficits, with a notably limited range of brain-targeted medications, particularly in the field of nanomedicine. Herein, we introduce the brain-targeted H(2)S donor cross-linked nanomicelle, named mannose-PEG600-lipoic acid (Man-LA). Man-LA demonstrates enhanced stability and precise brain delivery by interacting with glucose transporter 1 (GLUT1) in astrocytes, facilitating a gradual release of H(2)S that is modulated by glutathione (GSH). In vivo, studies suggest that Man-LA alleviates symptoms of ASD, correlating with increased expression of aerobic glycolysis enzymes, elevated lactate production, and higher H(2)S levels, while preventing damage to hippocampal neurons. In vitro, Man-LA tightly binds to aldehyde dehydrogenase family 3 member B1 (Aldh3b1) in astrocytes, upregulating its expression. This interaction promotes aerobic glycolysis and enhances lactate production. These findings suggest a connection between ASD deficits and the dysregulation of astrocytic aerobic glycolysis, underscoring the role of H(2)S. Identifying the Aldh3b1 gene within aerobic glycolysis pathways provides a promising target for ASD treatment.

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64. Zoccante L, Sabaini S, Bonatti SM, Rigotti E, Lintas C, Marconi M, Zaffanello M. Effectiveness of Equine-Assisted Activities and Therapies for Children with Autism Spectrum Disorder: An Update. Children (Basel);2024 (Dec 8);11(12)

BACKGROUND/OBJECTIVES: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition requiring personalised therapeutic approaches. This study evaluated the effectiveness of Equine-Assisted Activities and Therapies (EAATs) in 86 children with varying ASD severity levels (levels 1-3). METHODS: Vineland Adaptive Behaviour Scales and the Parenting Stress Index were used. Between May 2022 and October 2023, participants completed 20 weekly sessions of 45 min each, tailored to their individual needs. RESULTS: Children with level 3 ASD demonstrated greater challenges in communication (level 1: 67.1 ± 29.0 vs. level 3: 30.0 ± 12.6; p < 0.001), daily living skills (81.0 ± 26.8 vs. 42.6 ± 18.1; p < 0.001), and socialisation (72.2 ± 23.2 vs. 37.3 ± 14.2; p < 0.001). Parental distress was higher in cases of greater ASD severity. Nevertheless, significant improvements were observed across the entire cohort in daily living skills (58.3 ± 25.5 vs. 67.8 ± 29.0; p = 0.023), with particularly notable outcomes in children with level 1 ASD (65.7 ± 26.9 vs. 81.0 ± 26.8; p = 0.010). While increases in socialisation were noted among children with level 1 ASD, these were not statistically significant (p = 0.073). CONCLUSIONS: EAAT fosters improvements in daily living skills, particularly in children with level 1 ASD, and has a positive impact on socialisation. For children with more severe ASD, targeted interventions are required.

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