Pubmed du 28/04/25

Pubmed du jour

1. Alayidh M, Alawad F, Alanazy WB, Al-Harbi FO, Alotaibi AM, Al Mohammed QA, Aljubran AS, Al-Otaibi RT, Al-Otaibi RF, Al Rubaie TR. Music Therapy for People With Autism Spectrum Disorder: A Systematic Review of Randomized Clinical Trials. Cureus;2025 (Mar);17(3):e81361.

Autism spectrum disorder (ASD) affects social interaction, communication, and learning, with its prevalence continuing to rise, and music therapy (MT) has shown promise in improving social interactions and communication skills in individuals with ASD. This systematic review explores the relationship between ASD and music therapy, examining factors that influence its effectiveness in children. A systematic review of randomized controlled trials (RCTs) published between 2009 and 2024 was conducted to assess the effects of music therapy on children with autism. Studies were retrieved from databases such as PubMed and Google Scholar, with the final search completed by October 1, 2024, and only RCTs that evaluated music’s impact on ASD and reported relevant outcomes were included, while non-RCTs, studies with a high risk of bias, and duplicates were excluded. A total of nine RCTs involving 1,327 children with ASD, aged 2-12, were analyzed; these studies assessed various music therapy interventions lasting from two weeks to eight months, with sessions occurring one to three times per week. Findings were mixed, as four studies with 449 participants reported significant improvements in social communication skills, while three larger studies with 715 participants found no significant changes in primary social outcomes but noted improvements in specific aspects of social responsiveness, and two smaller studies with 59 participants reported notable enhancements in verbal production and emotional responsiveness. Music therapy has been recognized as a beneficial intervention for improving health outcomes across various conditions, including mental health disorders, and this review highlights its potential in autism, particularly in enhancing cognitive processing, emotional responses, and social communication; however, while the findings are promising, further research with larger sample sizes and extended study durations is necessary to validate these effects.

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2. Baniel A, Almagor E, Sharp N, Kolumbus O, Herbert MR. From fixing to connecting-developing mutual empathy guided through movement as a novel path for the discovery of better outcomes in autism. Front Integr Neurosci;2024;18:1489345.

This article presents the theoretical foundation of two well established movement-based methods that represent a fundamental departure from most current interventions and are applied globally with children and adults experiencing diverse motoric, cognitive, and social challenges as well as with high functioning individuals: the Feldenkrais method and Anat Baniel Method(®) NeuroMovement(®). These methods are based on leveraging neuroplasticity through the utilization of movement, not as « exercise » or externally imposed motor sequences, but as a means for effective, two-way felt communication with the recipient and their brain. Through connecting with the recipient, starting where they are-motorically, emotionally, and cognitively, we follow their unique responses, moment-by-moment, creating a dance-like dyadic process of self-discovery that mimics the spontaneous, organic way typically developing children play, learn, and grow. Practitioners in these methods, by joining and creating mutual connection with the recipient, help turn the subjective experience of the recipient into a reliable means of attaining spontaneous, mutually generated emergent learning in the recipient. In this process the autonomy of the recipient is respected and enhanced. Our work will be described through direct applications to autism seen as a neuro-motor-sensing disorder where those challenges can be transcended through the dyadic dance embodied in our techniques. Since 87% of children with autism spectrum disorder have significant movement challenges, we propose that movement, as a means for effective two-way communication with the child and their brain, needs to play a central role in autism intervention. In this article we outline how our interventions take place through case studies, vignettes and discussion, separately for each of the two methods. This article will also include recommendations for conducting investigations that characterize some of the basic components of these two methods, utilizing experimental designs and recently developed technologies and biometrics that generate unique individual profiles of both the receiver and the provider of the intervention, and of the interbrain synchrony, correlate them with changes in movement organization, cognitive functioning and coherence, and track changes in the signal-to-noise ratio. These methods should enable refinement and scalability of tracking and assessing the mechanisms and effectiveness of the interventions.

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3. Budisteanu M, Papuc SM, Erbescu A, Glangher A, Andrei E, Rad F, Hinescu ME, Arghir A. Review of structural neuroimaging and genetic findings in autism spectrum disorder – a clinical perspective. Rev Neurosci;2025 (Apr 28);36(3):295-314.

Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by deficits in social relationships and communication and restrictive, repetitive behaviors and interests. ASDs form a heterogeneous group from a clinical and genetic perspective. Currently, ASDs diagnosis is based on the clinical observation of the individual’s behavior. The subjective nature of behavioral diagnoses, in the context of ASDs heterogeneity, contributes to significant variation in the age at ASD diagnosis. Early detection has been proved to be critical in ASDs, as early start of appropriate therapeutic interventions greatly improve the outcome for some children. Structural magnetic resonance imaging (MRI) is widely used in the diagnostic work-up of neurodevelopmental conditions, including ASDs, mostly for brain malformations detection. Recently, the focus of brain imaging shifted towards quantitative MRI parameters, aiming to identify subtle changes that may establish early detection biomarkers. ASDs have a strong genetic component; deletions and duplications of several genomic loci have been strongly associated with ASDs risk. Consequently, a multitude of neuroimaging and genetic findings emerged in ASDs in the recent years. The association of gross or subtle changes in brain morphometry and volumes with different genetic defects has the potential to bring new insights regarding normal development and pathomechanisms of various disorders affecting the brain. Still, the clinical implications of these discoveries and the impact of genetic abnormalities on brain structure and function are unclear. Here we review the literature on brain imaging correlated with the most prevalent genomic imbalances in ASD, and discuss the potential clinical impact.

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4. Capisizu A, Zăgrean L, Capisizu AS. Electroencephalographic aspects and phenotypic characteristics in children with autism. J Med Life;2025 (Mar);18(3):246-256.

Autism is a severe neurodevelopmental disorder that affects many individuals around the world, with a constantly increasing prevalence. The association between autism and electroencephalographic (EEG) abnormalities in children suggests a worse evolution of clinical features. A retrospective study was conducted, including 101 children with autism who underwent clinical and neurological examination and wake electroencephalography. This study aimed to examine EEG abnormalities in children with autism, identify phenotypic characteristics associated with these abnormalities, asses their clinical relevance, and determine potential phenotypic correlations. The results showed that 10.89% of the patients in the study presented EEG abnormalities, similar to those of other studies that used wake EEG. Of these patients, 18.18% presented epileptic-type discharges, such as spike and wave complexes, and 81.81% presented non-epileptic-type abnormalities, such as bursts of slow waves, generalized or focal. Regarding the phenotypic profile of the patients with EEG abnormalities, 45.45% had a positive family history, 63.63% presented with dysmorphic features and 27.27% presented with gait disturbance. This study shows that some children with autism present multiple EEG abnormalities and diverse phenotypic traits in terms of personal and family history, dysmorphic features, and neurological examination. Identifying EEG abnormalities can improve clinical decisions with complex treatment and monitoring of co-occurring conditions like epilepsy. The use of accessible, effective, and noninvasive assessment tools, such as EEG recordings and neurological examinations in children with autism, can provide valuable support for improved case management.

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5. Clark S. The Complexities of Navigating the Healthcare System as an Autistic Individual with Ehlers-Danlos Syndrome: A Patient Perspective. J Patient Exp;2025;12:23743735251333601.

Autistic individuals with hypermobile Ehlers-Danlos syndrome (hEDS) often face unique challenges navigating healthcare systems due to lack of clinician awareness, diagnostic delays, misdiagnoses, and systemic barriers. Drawing on my own lived experience within the UK’s National Health Service (NHS), this patient perspective article integrates personal narratives with the research and literature, highlighting critical gaps in clinical care, offering practical recommendations to enhance equity and inclusion. Recommendations include: improved clinician education on neurodivergence and overlapping conditions, improving holistic patient-centred communication, and collaborative care models that prioritise patient needs, learning from lived expertise.

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6. Cunningham C, Macdonald O, Schaffer A, Brown A, Wiedemann M, Higgins R, Bates C, Parry J, Fisher L, Curtis H, Mehrkar A, Hart LC, Hulme W, Speed V, Ward T, Croker R, Wood C, Walker A, Andrews C, Butler-Cole B, Evans D, Inglesby P, Dillingham I, Davy S, Bridges L, O’Dwyer T, Maude S, Smith R, Green A, Goldacre B, MacKenna B, Bacon S. Impact of the COVID-19 pandemic on antidepressant prescribing with a focus on people with learning disability and autism: an interrupted time series analysis in England using OpenSAFELY-TPP. BMJ Ment Health;2025 (Apr 28);28(1)

BACKGROUND: COVID-19 restrictions led to increased reports of depressive symptoms in the general population and impacted health and social care services. We explored whether these changes affected antidepressant prescribing trends in the general population and those with learning disability or autism. METHODS: With the approval of NHS England, we used >24 million patients’ primary care data from the OpenSAFELY-TPP platform. We used interrupted time series analysis to quantify trends in those prescribed and newly prescribed an antidepressant across key demographic and clinical subgroups, comparing pre-COVID-19 (January 2018-February 2020), COVID-19 restrictions (March 2020-February 2021) and recovery (March 2021-December 2022) periods. RESULTS: Prior to COVID-19 restrictions, antidepressant prescribing was increasing in the general population and in those with learning disability or autism. We did not find evidence that the pandemic was associated with a change in antidepressant prescribing trend in the general population (relative risk (RR) 1.00 (95% CI 0.97 to 1.02)), in those with autism (RR 0.99 (95% CI 0.97 to 1.01)) or in those with learning disability (RR 0.98 (95% CI 0.96 to 1.00)).New prescribing post restrictions was 13% and 12% below expected had COVID-19 not happened in both the general population and those with autism (RR 0.87 (95% CI 0.83 to 0.93), RR 0.88 (95% CI 0.83 to 0.92)), but not learning disability (RR 0.96 (95% CI 0.87 to 1.05)). CONCLUSIONS AND IMPLICATIONS: In this England study, we did not see an impact of COVID-19 on overall antidepressant prescribing, although unique trends were noted, such as trends in new antidepressant prescriptions which increased in care homes over the pandemic and decreased in the general population and those with autism since recovery.

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7. Daniel KS, Jiang Q, Wood MS. The Increasing Prevalence of Autism Spectrum Disorder in the U.S. and Its Implications for Pediatric Micronutrient Status: A Narrative Review of Case Reports and Series. Nutrients;2025 (Mar 12);17(6)

INTRODUCTION: Micronutrient deficiencies are considered uncommon in the United States. However, children with autism spectrum disorder (ASD) are at higher risk due to food selectivity and restrictive eating patterns. The prevalence of ASD in the U.S. has quadrupled over the past two decades, amplifying the need to address nutritional gaps in this population. OBJECTIVE: This narrative review examines the prevalence and clinical impact of underreported micronutrient deficiencies beyond vitamin C in children with ASD using case reports and series. METHODS: Case reports and case series reporting micronutrient deficiencies in children with ASD published from 2014 to 2025 were identified through PubMed and ScienceDirect using search terms « autism and deficiency » and « autism and vitamin A, K, magnesium, iron deficiency ». Eligible cases included children aged 2-18 years with ASD and laboratory-confirmed micronutrient deficiencies. RESULTS: A total of 44 cases from 27 articles were analyzed. Frequently reported deficiencies were vitamin D (25.0%), vitamin A (24.8%), B-vitamins (18.0%), calcium (10.8%), and iron (9.6%). Less common deficiencies included iodine, zinc, vitamin E, etc. Diseases such as xerophthalmia, rickets, pellagra, and goiter were reported. Co-occurring deficiencies were present in 70% of cases, and all cases reported food selectivity, with deficiencies occurring despite normal growth parameters in some children. CONCLUSIONS: Based on cases reviewed, children with ASD are at high risk for micronutrient deficiencies, despite meeting normal growth parameters. Further research is needed to develop a standardized nutrition assessment, but combining anthropometric, biochemical, and dietary assessments can aid in early intervention and prevent complications.

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8. Galli J, Vezzoli M, Loi E, Micheletti S, Molinaro A, Tagliavento L, Calza S, Sokolov AN, Pavlova MA, Fazzi E. Alterations in looking at face-pareidolia images in autism. Sci Rep;2025 (Apr 28);15(1):14915.

Face tuning is vital for adaptive and effective social cognition and interaction. This capability is impaired in a wide range of mental conditions including autism spectrum disorder (ASD). Yet the origins of this deficit are largely unknown. Here, an eye-tracking methodology had been implemented in adolescents with high-functioning ASD and in typically developing (TD) matched controls while administering a face-pareidolia task. The spatial distributions of eye fixation in five regions of interest [face, eyes, mouth, CFA (complementary face area, a face area beyond eyes and mouth) and non-face area (a screen area outside a face)] were recorded during spontaneous recognition of a set of Arcimboldo-like Face-n-Food images presented in a predetermined order from the least to most resembling a face. Individuals with ASD gave significantly fewer face responses and looked more often at the mouth, CFA, and non-face areas. By contrast, TD controls mostly fixated the face and eyes areas. The atypical visual scanning strategies could, at least partly, account for the lower face tuning in ASD, supporting the eye avoidance hypothesis, according to which ASD individuals concentrate less on the eyes because the eyes represent a source of emotional information that may make them feel uncomfortable.

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9. Girault JB, Nishino T, Talović M, Nebel MB, Reynolds M, Burrows CA, Elison JT, Lee CM, Snyder AZ, Shen MD, Shen AM, Botteron KN, Estes AM, Dager SR, Gerig G, Hazlett HC, Marrus N, McKinstry RC, Pandey J, Schultz RT, John TS, Styner MA, Zwaigenbaum L, Todorov AA, Piven J, Pruett JR, Jr. Functional connectivity between the visual and salience networks and autistic social features at school-age. J Neurodev Disord;2025 (Apr 28);17(1):23.

BACKGROUND: Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined functional correlates of ASD symptomology at school-age, while accounting for associated behavioral and cognitive domains, in a longitudinal sample followed from infancy and enriched for those with a genetic liability for ASD. METHODS: Resting state functional connectivity MRIs (fcMRI) and behavioral data were analyzed from 97 school-age children (8.1-12.0 years, 55 males, 15 ASD) with (n = 63) or without (n = 34) a family history of ASD. fcMRI enrichment analysis (EA) was used to screen for associations between network-level functional connectivity and six behaviors of interest in a data-driven manner: social affect, restricted and repetitive behavior (RRB), generalized anxiety, inattention, motor coordination, and matrix reasoning. RESULTS: Functional connectivity between the visual and salience networks was significantly associated with social affect symptoms at school-age after accounting for all other behaviors. Results indicated that stronger connectivity was associated with higher social affect scores. No other behaviors were robustly associated with functional connectivity, though trends were observed between visual-salience connectivity and RRBs. CONCLUSIONS: Connectivity between the visual and salience networks may play an important role in social affect symptom variability among children with ASD and those with genetic liability for ASD. These findings align with and extend earlier reports in this sample of the central role of the visual system during infancy in ASD.

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10. Grant-Bier J, Ruppert K, Hayward B, Usdin K, Kumari D. MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich’s ataxia. Epigenetics Chromatin;2025 (Apr 28);18(1):24.

BACKGROUND: Repeat-induced epigenetic changes are observed in many repeat expansion disorders (REDs). These changes result in transcriptional deficits and/or silencing of the associated gene. MSH2, a mismatch repair protein that is required for repeat expansion in the REDs, has been implicated in the maintenance of DNA methylation seen in the region upstream of the expanded CTG repeats at the DMPK locus in myotonic dystrophy type 1 (DM1). Here, we investigated the role of MSH2 in aberrant DNA methylation in two additional REDs, fragile X syndrome (FXS) that is caused by a CGG repeat expansion in the 5′ untranslated region (UTR) of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, and Friedreich’s ataxia (FRDA) that is caused by a GAA repeat expansion in intron 1 of the frataxin (FXN) gene. RESULTS: In contrast to what is seen at the DMPK locus in DM1, loss of MSH2 did not decrease DNA methylation at the FMR1 promoter in FXS embryonic stem cells (ESCs) or increase FMR1 transcription. This difference was not due to the differences in the CpG density of the two loci as a decrease in DNA methylation was also not observed in a less CpG dense region upstream of the expanded GAA repeats in the FXN gene in MSH2 null induced pluripotent stem cells (iPSCs) derived from FRDA patient fibroblasts. Surprisingly, given previous reports, we found that FMR1 reactivation was associated with a high frequency of MSH2-independent CGG-repeat contractions that resulted a permanent loss of DNA methylation. MSH2-independent GAA-repeat contractions were also seen in FRDA cells. CONCLUSIONS: Our results suggest that there are mechanistic differences in the way that DNA methylation is maintained in the region upstream of expanded repeats among different REDs even though they share a similar mechanism of repeat expansion. The high frequency of transcription-induced MSH2-dependent and MSH2-independent contractions we have observed may contribute to the mosaicism that is frequently seen in carriers of FMR1 alleles with expanded CGG-repeat tracts. These contractions may reflect the underlying problems associated with transcription through the repeat. Given the recent interest in the therapeutic use of transcription-driven repeat contractions, our data may have interesting mechanistic, prognostic, and therapeutic implications.

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11. Huang P, Ye B, Xie F, Zhou J, Tan Z, Luo Z, Hu X. Comparative analysis of anterior lumbar interbody fusion and transforaminal lumbar interbody fusion in clinical outcomes: ALIF associated with lower rates of adjacent segment degeneration (ASD) in a long-term follow-up study. Int Orthop;2025 (Apr 28)

PURPOSE: To compare the long-term efficacy of anterior lumbar interbody fusion (ALIF) and posterior transforaminal lumbar interbody fusion (TLIF) in treating lumbar degenerative diseases. METHODS: A retrospective analysis was conducted on 57 patients with lumbar degenerative diseases who underwent either ALIF or TLIF from March 2003 to October 2007. Patients were divided into an ALIF group (n = 27) and a TLIF group (n = 30). Pain was evaluated using the visual analogue scale (VAS), and the Oswestry Disability Index (ODI) was used to assess clinical outcomes. Radiographic adjacent segment degeneration (rASD) was evaluated using the Modified Pfirrmann Scale. Three-dimensional CT was used to assess the fusion rate at the last follow-up. RESULTS: Follow-up duration ranged from 58 to 120 months, with an average of 90.6 months. No significant difference was observed in VAS and ODI scores between the two groups (P > 0.05). However, significant differences were noted before and after the operation (P < 0.05). The intervertebral disc height (IDH) and lumbar lordosis (LL) increased after the operation and during follow-ups. The IDH and LL in the ALIF group were significantly higher than those in the TLIF group both postoperatively and at follow-ups (P < 0.05). At the last follow-up, the incidence of rASD in the ALIF group was significantly lower than in the TLIF group (P < 0.05). CONCLUSIONS: Both ALIF and TLIF provide satisfactory long-term outcomes for lumbar degenerative diseases. ALIF more effectively restores and maintains lumbar intervertebral height and lumbar lordosis, potentially reducing the incidence of adjacent segment degeneration.

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12. Kiarashi Y, Lantz J, Reyna MA, Anderson C, Rad AB, Foster J, Villavicencio T, Hamlin T, Clifford GD. Predicting seizure episodes and high-risk events in autism through adverse behavioral patterns. Physiol Meas;2025 (Apr 28);46(4)

Objective.To determine whether historical behavior data can predict the occurrence of high-risk behavioral or Seizure events in individuals with profound Autism Spectrum Disorder (ASD), thereby facilitating early intervention and improved support.Approach.We conducted an analysis of nine years of behavior and seizure data from 353 individuals with ASD. Our analysis focused on the seven most common behaviors labeled by a human, while all other behaviors were grouped into an ‘other’ category, resulting in a total of eight behavior categories. Using a deep learning algorithm, we predicted the occurrence of seizures and high-risk behavioral events for the following day based on data collected over the most recent 14 d period. We employed permutation-based statistical tests to assess the significance of our predictive performance.Main results.Our model achieved accuracies of 70.5% for seizures, 78.3% for aggression, 80.2% for SIB, and 85.7% for elopement. All results were significant for more than 85% of the population. These findings suggest that high-risk behaviors can serve as early indicators not only of subsequent challenging behaviors but also of upcoming seizure events.Significance.By demonstrating, for the first time, that behavioral patterns can predict seizures as well as adverse behaviors, this approach expands the clinical utility of predictive modeling in ASD. Early warning systems derived from these predictions can guide timely interventions, enhance inclusion in educational and community settings, and improve quality of life by helping anticipate and mitigate severe behavioral and medical events.

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13. Klin A. Increasing Access to Early Diagnosis and Assessment of Autism Via Biomarker-Based Measurements of Social Visual Engagement. Am J Intellect Dev Disabil;2025 (May 1);130(3):167-170.

Only one in every five children with autism is diagnosed before the age of 3 years. As a result, tens of thousands of children every year in the United States miss benefiting from early interventions and supports that could potentially optimize their lifetime outcomes. A major obstacle is the extremely limited access to high quality diagnosis. To address this challenge, biomarker-based objective procedures for early diagnosis and assessment of autism have already been clinically validated and cleared for broad implementation by the U.S. Food and Drug Administration. Broad community uptake of these science-based solutions, however, will require change in entrenched models of diagnostic care, and aggressive prioritization of the needs of the community at large.

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14. Maqsood I, Afzal E, Aftab K, Ahmad M. Comparison of abnormal sensory symptoms in children with and without autism spectrum disorder. Pak J Med Sci;2025 (Apr);41(4):1181-1186.

OBJECTIVE: To compare the abnormal sensory symptoms in children with and without autism spectrum disorder (ASD). METHOD: This case-control study was conducted at the department of Developmental & Behavioral Pediatrics, The Children’s Hospital and Institute of Child Health, Multan, Pakistan from January, 2024 to June, 2024. Inclusion criteria for cases were children of either, aged 5-12 years, diagnosed with ASD, and accompanying at least one of the parents. For controls, children visiting outpatient department of pediatrics were included. The study utilized standardized sensory assessment tools « Sensory Profile » to evaluate sensory processing abnormalities in both groups. RESULTS: In a total of 128 children, 85 (66.4%) were male. The mean age was 8.2±2.4 years, ranging between 5-12 years. In terms of sensory profiles, children with ASD exhibited significantly higher rates of abnormal sensory symptoms across all domains compared to non-ASD children (p<0.001). In the auditory domain, hyperresponsiveness was prevalent in 43.8% of ASD children versus 7.8% in non-ASD children (p<0.001). For tactile, visual, and proprioceptive domains, similar patterns were observed where significantly higher proportions of children with ASD were affected (p<0.001). In the visual and proprioceptive domains, ASD children consistently demonstrated significantly elevated rates of hyperresponsiveness, hyporesponsiveness, and sensory-seeking behaviors compared to non-ASD children (p<0.001). CONCLUSION: The high prevalence of hyperresponsiveness, hyporesponsiveness, and sensory-seeking behaviors across sensory domains in ASD children raises the requirement for comprehensive sensory assessments and individualized interventions.

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15. Rast CE, Guzick AG, Soileau KJ, Smarason O, Berry LN, Goin-Kochel RP, Goodman WK, Schneider SC, Salloum A, Storch EA. Effects of Stepped Cognitive Behavioral Therapy on Child Depressive and Externalizing Symptoms in Autistic Children With Anxiety. Am J Intellect Dev Disabil;2025 (May 1);130(3):228-243.

Despite the strong evidence basis for the treatment of anxiety in autistic youth, accessibility remains a significant challenge. Stepped care addresses this gap, although there is limited research into its broad effects in autistic youth with anxiety. In this project, 76 autistic youth with anxiety entered parent-led-bibliotherapy for 12 weeks; 44 stepped up to receive therapist-led cognitive behavioral therapy (CBT). Those who did not step up entered a maintenance phase. Youth were assessed for externalizing and depressive symptoms at mid-treatment, post-treatment, and 3 months after treatment (3MFU). Focal symptoms decreased across groups at all timepoints; those who entered maintenance experienced greater decreases. At 3MFU there were no differences between groups. Parents were assessed for depression, anxiety, and stress at the same timepoints; no significant changes were observed.

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16. Sader M, Halls D, Kerr-Gaffney J, Waiter GD, Gillespie-Smith K, Duffy F, Tchanturia K. Neuroanatomical associations with autistic characteristics in those with acute anorexia nervosa and weight-restored individuals. Psychol Med;2025 (Apr 28);55:e120.

Common neuroanatomical regions are associated with both states of anorexia nervosa (AN) and autistic characteristics, but restoration of body mass index (BMI) has been associated with decreased presentation of autistic characteristics in some individuals with AN. This study aims to examine neuroanatomical correlates associated with autistic characteristics in those with acute anorexia nervosa (ac-AN) and those previously diagnosed with AN but whose weight has been restored (WR). In total, 183 individuals (healthy controls [HCs] = 67; n[ac-AN] = 68; n[WR] = 48) from the Brain imaging of Emotion And Cognition of adolescents with Anorexia Nervosa (BEACON) study were included, with autistic characteristics determined in both ac-AN and WR individuals (n = 116). To further examine BMI, ac-AN and WR group associations were compared. Random forest regression (RFR) models examined whether autistic characteristics and morphology of the anterior cingulate cortex (ACC), middle frontal gyrus (MFG), and orbitofrontal cortex (OFC) were able to predict future levels of social anhedonia and alexithymia. Group-wise differences were identified within the volume and surface area of the MFG and OFC, which were unrelated to BMI. Autistic characteristics were inversely associated with MFG and ACC volume, with differences in associations between ac-AN and WR groups seen in the surface area of the MFG. RFR models identified moderate-to-weak performance and found that autistic characteristics were not important predictive features in a priori and exploratory models. Findings suggest that the presence of autistic characteristics in those with ac-AN are associated with the volume of the MFG and are unrelated to BMI restoration.

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17. Singh NK, Patel A, Verma N, Singh RKB, Sharma SK. Hybrid deep learning method to identify key genes in autism spectrum disorder. Healthc Technol Lett;2025 (Jan-Dec);12(1):e12104.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. This research aims to identify key genes associated with autism spectrum disorder using a hybrid deep learning approach. To achieve this, a protein-protein interaction network is constructedand analyzed through a graph convolutional network, which extracts features based on gene interactions. Logistic regression is then employed to predict potential key regulatorgenes using probability scores derived from these features. To evaluate the infection ability of these potential key regulator genes, a susceptible-infected (SI) model, is performed, which reveals the higher infection ability for the genes identified by the proposed method, highlighting its effectiveness in pinpointing key genetic factors associated with ASD. The performance of the proposed method is compared with centrality methods, showing significantly improved results. Identified key genes are further compared with the SFARI gene database and the Evaluation of Autism Gene Link Evidence (EAGLE) framework, revealing commongenes that are strongly associated with ASD. This reinforces the validity of the method in identifying key regulator genes. The proposed method aligns with advancements in therapeutic systems, diagnostics, and neural engineering, providing a robust framework for ASD research and other neurodevelopmental disorders.

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18. Stagnone NH, Thorne JC, Mattson JT, Kover ST. Executive and Social Functioning in Fetal Alcohol Spectrum Disorders: Comparison to Autism. Am J Intellect Dev Disabil;2025 (May 1);130(3):209-227.

Executive function is an area of challenge for both children with fetal alcohol spectrum disorders (FASD) and children with autism spectrum disorder (ASD). Parent ratings of everyday executive function relate to a range of outcomes, including social functioning in ASD. Comparisons between FASD and ASD have revealed both overlapping and distinct skills, but have not addressed executive function or its relation to social function. Utilizing parent report, the current study addressed relative strengths and weaknesses across scales of everyday executive function, as well as group differences between FASD and ASD. The association between executive function and social function was also evaluated. Participants with FASD (n = 23) and ASD (n = 18) were preschool and school-age children whose caregivers completed the Behavior Rating Inventory of Executive Function (BRIEF, BRIEF-2, or BRIEF-P) and the Social Responsiveness Scale, Second Edition. For both groups and all examined executive function scales, scores exceeded the normative mean, indicating challenges. The groups differed significantly on only one executive function scale: working memory. In both groups, executive function was positively correlated with social functioning, even when controlling for nonverbal IQ. The current findings highlight an overlapping association between executive function and social function in FASD and ASD.

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19. Streb W, Fiszer R, Mitręga K, Podolecki T, Kurek T, Lazar M, Kowalska W, Wizner A, Stanjek-Cichoracka A, Kalarus Z. Optimizing MitraClip Outcomes: The Case for Routine Iatrogenic ASD Closure. Clin Med Insights Cardiol;2025;19:11795468251332236.

INTRODUCTION: Iatrogenic atrial septal defect (iASD) resulting from MitraClip procedures may cause volume overload and deterioration of right ventricular (RV) function. The concurrent MitraClip procedure, along with an intervention to close iASD appears to yield a potentially favorable impact on the functioning of the right ventricle. AIM OF THE STUDY: The study aims to evaluate the effect of iASD closure with an occluder immediately after the MitraClip procedure on RV function, pulmonary resistance, and right ventricle-pulmonary artery coupling (RV-PAc). METHODS: The study group (ASDc) consisted of consecutive patients who underwent concomitant iASD closure with the Amplatzer occluder (n = 10). The control group (n = 9) comprised patients with iASD left untreated (CT group). RV assessment before MitraClip and during follow-up visits was based on transthoracic echocardiography (TTE). RESULTS: In the CT group, fractional area change (FAC) increased from 33.3 ± 15.6% to 38.2 ± 14.0%; P = .28, and in the ASDc group, from 38.9 ± 11.6% to 40.4 ± 13.7%; P = .76. In the CT group, tricuspid annular plane systolic excursion (TAPSE) decreased from 19.2 ± 4.3 mm to 17.3 ± 3.8 mm; P = .47, and in the ASDc group from 19.1 ± 6.8 mm to 16.5 ± 6.1 mm; P = .04. In the entire group, right ventricular systolic pressure (RVSP) dropped from 52.7 ± 16.0 mmHg to 45.1 ± 8.1 mmHg; P = .01. The reduction in RVSP was 11 mmHg in the ASDc group versus 4 mmHg in the CT group (P = .35). Pulmonary vascular resistance (PVR) itself did not change significantly before and after the procedure. RV-PAc increased respectively by 36% and 9.75% from baseline values in the ASDc and CT groups. CONCLUSION: Closure of the iASD results in a greater reduction in RVSP but also TAPSE. RV-PAc, a parameter unaffected by RV preload, reveals notably improved hemodynamic conditions for RV performance after iASD closure.

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20. Sultan MA. Equitable access to sustainable healthcare services for children with autism. BJPsych Int;2025 (Feb);22(1):11-14.

This perspective article addresses the critical issue of equitable access to sustainable healthcare services for children with autism spectrum disorder (ASD). Despite the increasing prevalence of ASD globally, significant disparities persist in accessing appropriate healthcare services. The lack of comprehensive data on autism prevalence and incidence in many regions further exacerbates this challenge, hindering the development of targeted interventions and equitable resource allocation. This paper sheds light on barriers to equitable access, including geographical disparities, cultural stigma, communication barriers and inadequate training of healthcare providers. Strategies for achieving sustainable solutions are proposed, including the expansion of telehealth services, financial assistance programmes, competency training, community-based support programmes and investment in high-quality research. By addressing these challenges and implementing evidence-based interventions, we can work towards ensuring that all children with autism have access to the healthcare services they need for optimal development and well-being.

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21. Widiastuti AA, Atmoko A, Eva N, Listyaningrum EM, Wijayanti TD. Bridging gaps in autism spectrum disorder care. Lancet Psychiatry;2025 (Apr 24)

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22. Wilson N, Gajwani R, Fleming M, Findlay M, Stocks H, Walker G, Corcoran N, Minnis H. Physical health trajectories of young people with neurodevelopmental conditions: a protocol for a systematic review of longitudinal studies. BMJ Open;2025 (Apr 27);15(4):e090823.

INTRODUCTION: There is now emerging evidence to suggest a longitudinal association between specific neurodevelopmental conditions (NDCs) in childhood or adolescence (ie, autism, attention deficit hyperactivity disorder (ADHD) and tic disorders) and certain physical long-term conditions (LTCs) in adulthood. However, to date, this literature has never been comprehensively collated and appraised. As a result, our understanding of all the future health risks that young people with NDCs may collectively be at risk of is limited, and the factors which drive these adult health outcomes also remain obscure. METHODS AND ANALYSIS: A search strategy has been developed in collaboration with two medical librarians and will be used to conduct systematic searches of MEDLINE, EMBASE, APA PsycINFO, CINAHL and Web of Science. Prospective longitudinal studies exploring the association between three common NDCs in childhood or adolescence (ie, ADHD, autism and tic disorders <18 years of age) and any physical LTC in adulthood (ie, >18 years of age) will be selected through title and abstract review, followed by a full-text review. Data extracted will include the definition of exposure and outcome, mediators or moderators investigated, confounders adjusted for, and crude and adjusted effect estimates. Risk of bias assessment will be conducted. Results will be synthesised narratively and, if the data allow, a meta-analysis will also be conducted. ETHICS AND DISSEMINATION: Ethics approval is not applicable for this study since no original data will be collected. The results of the review will be widely disseminated locally, nationally and internationally through peer-reviewed publications, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement, and conference presentations. PROSPERO REGISTRATION NUMBER: CRD42024516684.

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23. Yang M, Wang J, Zhou Z, Li W, Verkhivker G, Xiao F, Hu G. Machine Learning and Structural Dynamics-Based Approach to Reveal Molecular Mechanism of PTEN Missense Mutations Shared by Cancer and Autism Spectrum Disorder. J Chem Inf Model;2025 (Apr 28);65(8):4173-4188.

Missense mutations in oncogenic proteins that are concurrently associated with neurodevelopmental disorders have garnered significant attention. Phosphatase and tensin homologue (PTEN) serves as a paradigmatic model for mapping its mutational landscape and identifying genotypic predictors of distinct phenotypic outcomes, including cancer and autism spectrum disorder (ASD). Despite extensive research into the genotype-phenotype correlations of PTEN mutations, the mechanisms underlying the dual association of specific PTEN mutations with both cancer and ASD (PTEN-cancer/ASD mutations) remain elusive. This study introduces an integrative approach that combines machine learning (ML) with structural dynamics to elucidate the molecular effects of PTEN-cancer/ASD mutations. Analysis of biophysical and network-biology-based signatures reveals a complex energetic and functional landscape. Subsequently, an ML model and corresponding integrated score were developed to classify and predict PTEN-cancer/ASD mutations, underscoring the significance of protein dynamics in predicting cellular phenotypes. Further molecular dynamics simulations demonstrated that PTEN-cancer/ASD mutations induce dynamic alterations characterized by open conformational changes restricted to the P loop and coupled with interdomain allosteric regulation. This research aims to enhance the genotypic and phenotypic understanding of PTEN-cancer/ASD mutations through an interpretable ML model integrated with structural dynamics analysis. By identifying shared mechanisms between cancer and ASD, the findings pave the way for the development of novel therapeutic strategies.

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24. Zhang Y, Li F, Wu H, Du W, Shu J, Wang A, Xu C, Li C, Wang Y, Hu S. Genetic neurocognitive profile of autism unveiled with gene transcription. Neurobiol Dis;2025 (Apr 25):106925.

How neurocognitive processes elaborate phenotypic heterogeneity within autism spectrum disorder (ASD) remains unknown. Applying the principal component analysis to the Neurosynth database, we established neurocognitive profiles to characterize the phenotypic heterogeneity of ASD, revealing a cortical hierarchical axis that separates the temporal cortex from other networks. By integrating neurocognitive profiles with transcriptomic data, we found that gene sets shaping the patterns of neurocognitive profiles are enriched in ASD-related biological processes and ASD pathogenic risk. Using a data-driven approach, we identified a topographic network for ASD, comprising the temporal, frontal, somatosensory, and visual cortices, with its transcriptomic signatures differentiating between regions over neurodevelopment. Additionally, functional reorganization in ASD within the topographic network has occurred with the temporal cortex as the central node. Collectively, our results reveal spatially covarying transcriptomic and neurocognitive profiles, emphasizing the influence of functional reorganization and its underlying genetic mechanism on phenotypic heterogeneity in ASD.

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25. Zhao G, Cheng A, Shi J, Shi P, Guo J, Yin C, Khan H, Chen J, Wang P, Chen J, Zhang R. Large-scale EM data reveals myelinated axonal changes and altered connectivity in the corpus callosum of an autism mouse model. Front Neuroinform;2025;19:1563799.

INTRODUCTION: Autism spectrum disorder (ASD) encompasses a diverse range of neurodevelopmental disorders with complex etiologies, including genetic, environmental, and neuroanatomical factors. While the exact mechanisms underlying ASD remain unclear, structural abnormalities in the brain offer valuable insights into its pathophysiology. The corpus callosum, the largest white matter tract in the brain, plays a crucial role in interhemispheric communication, and its structural abnormalities may contribute to ASD-related phenotypes. METHODS: To investigate the ultrastructural alterations in the corpus callosum associated with ASD, we utilized serial scanning electron microscopy (sSEM) in mice. A dataset of the entire sagittal sections of the corpus callosum from wild-type and Shank3B mutant mice was acquired at 4 nm resolution, enabling precise comparisons of myelinated axon properties. Leveraging a fine-tuned EM-SAM model for automated segmentation, we quantitatively analyzed key metrics, including G-ratio, myelin thickness, and axonal density. RESULTS: In the corpus callosum of Shank3B autism model mouse, we observed a significant increase in myelinated axon density, accompanied by thinner myelin sheaths compared to wild-type. Additionally, we identified abnormalities in the diameter distribution of myelinated axons and deviations in G-ratio. Notably, these ultrastructural alterations were widespread across the corpus callosum, suggesting a global disruption of myelinated axon integrity. DISCUSSION: This study provides novel insights into the microstructural abnormalities of the corpus callosum in ASD mouse, supporting the hypothesis that myelination deficits contribute to ASD-related communication impairments between brain hemispheres. However, given the structural focus of this study, further research integrating functional assessments is necessary to establish a direct link between these morphological changes and ASD-related neural dysfunction.

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26. Zhao J, Bao M, Ruan W, Kuang R, Li H, Wang Y, Yao L. Electrophysiological Abnormalities Associated with Sustained Attention in Children with Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder. IEEE Trans Neural Syst Rehabil Eng;2025 (Apr 28);Pp

OBJECTIVE: This study investigates electrophysiological abnormalities in children with Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) during sustained attention tasks, focusing on vigilance and inhibitory control, and explores associations between neural markers and attentional performance. METHODS: Children with ADHD (n = 30), ASD (n = 23), and typically developing (TD) children (n = 31) completed a Test of Variables of Attention (TOVA) task while electroencephalography (EEG) was recorded. Event-related potentials (ERPs: P1, N2, P3) and event-related desynchronization/synchronization (ERD/ERS: theta ERS, alpha ERD, beta ERS) were measured and compared across groups. Correlations between electrophysiological features and behavioral performance were analyzed. RESULTS: Both ADHD and ASD groups demonstrated attenuated P1 amplitudes during vigilance task and reduced prefrontal theta ERS during inhibitory control. The ASD group exhibited additional impairments, including attenuated N2 amplitudes in inhibitory control, reduced P3 amplitudes, and weaker alpha ERD across conditions. The ADHD group showed additional deficits in theta ERS. Notably, N2 amplitude and theta ERS during vigilance state significantly correlated with response time measures. CONCLUSIONS: Children with ADHD and ASD share deficits in primary visual stimulus processing and inhibitory attention allocation. ASD-specific impairments involve top-down processing and inhibition, while ADHD-specific challenges involve attentional allocation and modulation. SIGNIFICANCE: These findings enhance the electrophysiological understanding of sustained attention in ADHD and ASD, offering insights that may inform future diagnostic and intervention strategies.

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