Pubmed du 10/04/25
1. Adrien JL, Blanc R, Thiébaut E. Corrigendum: Profile and development of adaptive behavior in adults with autism spectrum disorder and severe intellectual disability. Front Psychiatry. 2025; 16: 1579158.
[This corrects the article DOI: 10.3389/fpsyt.2024.1470466.].
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2. Al-Salihy AAS. Correlations between blood group and Rh factor in families and autism spectrum disorder: A comprehensive analysis. Sci Rep. 2025; 15(1): 12207.
This study is the first to investigate potential correlations between blood groups, Rh factors, and Autism Spectrum Disorder (ASD) within a diverse dataset of 2,390 participants from multiple regions in Iraq. The participants included children with ASD, children with other neurodevelopmental disorders, typically developing children and their parents. Using chi-square tests, logistic regression analysis, and machine learning algorithms, the findings revealed that the O + blood group was the most prevalent across all groups. Importantly, logistic regression analysis identified the AB + blood group as being associated with a significantly lower risk of ASD, suggesting a novel protective factor. No significant associations were observed between other blood groups, Rh factors, and ASD risk. Additionally, the study found no statistically significant differences in blood group distributions among children with ASD, other neurodevelopmental disorders, and typically developing children. These results provide new insights into the potential immunogenetic contributions to ASD and emphasize the need for further research to confirm the protective effect of the AB + blood group. Such studies may help unravel the genetic, immunological, and environmental mechanisms underlying ASD and support the development of targeted diagnostic and preventative strategies.
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3. Bemmouna D, Rabot E, Coutelle R, Lefebvre F, Weibel S, Weiner L. Dialectical Behaviour Therapy to Treat Emotion Dysregulation in Autistic adults without Intellectual Disability: A Randomised Controlled Trial. Psychother Psychosom. 2025: 1-18.
INTRODUCTION: Emotion dysregulation is prevalent in autistic adults without intellectual disability whereby it has been associated with heightened non-suicidal self-injury and suicidal behaviours. Dialectical behaviour therapy (DBT) has shown to be feasible and preliminary findings suggest that it might reduce emotion dysregulation in this population. Yet studies evaluating the efficacy of DBT in this context are lacking. METHODS: Sixty-three autistic adults presenting with emotion dysregulation as well as self-harm and/or suicidal behaviours were randomised either to the DBT condition (18-week treatment) or to the waiting list condition. Participants completed self-report scales, including emotion dysregulation, alexithymia, depression and quality of life, at 4 time points (pre-, mid-, post-therapy, six-month follow-up). RESULTS: Emotion dysregulation improved in the DBT condition relative to the waiting list condition mid-therapy (β01 = -18.59 [-27.67 to -9.44], Pr (β01 < 0) = 1.000), post- therapy (β02 = -31.91 [-41.67 to -22.30], Pr (β02 < 0) = 1.000), with lasting improvements at follow-up. Alexithymia improvement mediated the therapy effects on emotion dysregulation. Moreover, depressive symptoms and quality of life improved in the DBT condition relative to the waiting list condition post-therapy, with improvements lasting at follow-up. CONCLUSION: DBT was found to be effective to reduce emotion dysregulation in autistic adults presenting with self-harm and/or suicidal behaviour. Additionally, improvements on depression and quality-of-life were observed post-therapy. Interestingly, the improvements on emotion dysregulation were mediated by a decrease in alexithymia, consistent with research showing that alexithymia is a central mechanism of emotion dysregulation in autistic adults.
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4. Biggs EE, Turner EC, Elchos E, Spann E, Scotti KE. Teaching Elementary-Aged Peers Responsive Interaction and Augmentative and Alternative Communication Strategies Within a Peer Network Intervention. Lang Speech Hear Serv Sch. 2025; 56(2): 380-96.
PURPOSE: Elementary-aged peers often need support for them to have positive interactions with classmates with autism who are minimally speaking (i.e., fewer than 30 functional spoken words). This study examined whether peers could learn to use responsive interaction strategies to support inclusive play and communication within a peer network intervention. METHOD: A single-case, multiple-baseline across-strategies design was used to evaluate whether an initial teaching session paired with coaching was effective to teach peers responsive interaction strategies that incorporated aided augmentative and alternative communication. Participants were two elementary-aged autistic students who were minimally speaking, four peers, and their educational team members. RESULTS: The initial teaching paired with coaching was effective in teaching peers the three responsive interaction strategies called the Ways to Talk and Play. Additionally, the nature of interactions changed in beneficial ways when peers learned the Ways to Talk and Play. The strategies were viewed favorably by students with autism, peers, and educational team members. CONCLUSION: School teams can use intervention models such as this to improve outcomes for minimally speaking students with autism by equipping peers as responsive communication and play partners. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28629023.
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5. Carpita B, Bonelli C, Parri F, Cerofolini G, Pronestì C, Nardi B, Laureti D, Massimetti G, Cremone IM, Pini S, Fiorillo A, Dell’Osso L. Which panic-agoraphobic symptoms could be associated with the presence of autistic traits among patients with panic disorder?. CNS Spectr. 2025: 1-21.
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6. Donohue C, Tynan F. The Inclusion of Fathers in Parent Coaching Interventions for Young Autistic Children: A Systematic Review. J Autism Dev Disord. 2025.
Parent-mediated interventions are fundamental in supporting parents of autistic children. In particular, parent coaching has emerged as a key component of such interventions. However, the characteristics of such interventions remain underexplored. Therefore, the current review aimed to synthesise characteristics of parent-coaching interventions for young autistic children (<6 years). Specifically, the review aimed to investigate the extent to which fathers are being included in parent-coaching interventions. A systematic review of the literature was conducted following PRISMA guidelines. A total of 5 studies which met the strict inclusion criteria were included in the final analysis. Studies were summarised regarding participant information, study design, intervention characteristics, dependent variables, study outcomes and social validity findings. Results revealed that only 2 fathers were represented in the included studies, which included 94 parent-child dyads overall. Although limited to two studies, outcomes indicated that parent-coaching can be successfully implemented with fathers. Findings concerning other intervention characteristics are also discussed. Overall, this review highlights the need for more in-depth research into fathers' experiences of parent-coaching interventions and related child outcomes.
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7. Edwards R, Murphy G, Owens JW, Erickson C, Hopkin R, Shillington A. Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review. Case Rep Genet. 2025; 2025: 4501466.
Dep domain-containing Protein 5 (DEPDC5), encoded by the gene DEPDC5, regulates the cell cycle by inhibiting the mTORC1 pathway in response to amino acid deficiency. Loss of function DEPDC5 variants are recognized to present as focal familial epilepsy; however, associations with comorbid brain malformations and neurodevelopmental disorders have also been reported. mTOR inhibitors were found to benefit DEPDC5-knockout mice. Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder caused by loss of function of FMR1, and females are expected to have milder neurodevelopmental presentations than males. The reported individual is a 17-year-old female diagnosed with FXS at 1 year of age, but the severity of her neuropsychiatric symptoms prompted further genetic testing at age 14, revealing a likely pathogenic c.4307_4310del DEPDC5 variant. Following this diagnosis, she was started on the mTOR inhibitor sirolimus without significant clinical response. She has never been diagnosed with epilepsy; however, her DEPDC5 and FXS dual diagnosis was thought explanatory for her presentation. A review of 213 previously reported individuals with DEPDC5-related disorder demonstrated that 15.2% of individuals do not have epilepsy, 24.3% have intellectual disability, and 33.8% have brain malformations. Her lack of response to sirolimus may represent the presence of a critical treatment window for mTOR inhibitors in neurodevelopmental disorders.
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8. Handeland H, Evensen KAI, Robinson HS. Focus on physiotherapy and manual therapy for infants in Norway, a cross-sectional study on referral practice, and planned interventions. BMC Pediatr. 2025; 25(1): 282.
BACKGROUND: The Norwegian health care system has a mandatory program for close and systematically follow-up on all children, starting in early infancy through the Child Health Care Centers in the municipalities. Additionally, some infants are referred to physiotherapists and manual therapists for several reasons. Little is known about who is referring them and the cause for the referral. In Norway, physiotherapists working with infants can be employed in the communities or work in outpatient clinics, both are within the primary health care system. The main purpose of the present study was to explore the referral practice of infants to physiotherapy and compare those treated by physiotherapists and manual therapists in primary health care in Norway. Furthermore, to describe the planned interventions. METHODS: Cross-sectional study including 444 infants (age under 12 months) referred to physiotherapists or manual therapists working in primary health care in Norway. RESULTS: Median age (range) of the infants was 14 (1, 52) weeks and 344 were born at due date. Most infants examined by a physiotherapist were referred from other health personnel and more of the referrals to manual therapists were from parents due to their concern. Age at examination was between week 1-12 for 42% of the participants. Infants referred for motor development problems were equally distributed between the physiotherapists and manual therapists. All premature infants were referred to the physiotherapists. Concerning the interventions, both physiotherapists and manual therapists planned to use advice, handling, and stimulation. More of the physiotherapists reported to focus on advice related to motor development and the use of prone play. CONCLUSION: The infants in Norway are referred to physiotherapists and/or manual therapists for numerous reasons, and the distribution of diagnoses between the therapists seem reasonable. Infants are mostly referred by other health personnel but also because of parents’ own concern. Based on recommendations, some infants with asymmetries should be examined earlier. TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT03626389. Registered on August 13th, 2018 (retrospectively registered).
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9. Haridas B, Bessone S, Turner Z, Kossoff E. The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome. J Child Neurol. 2025: 8830738251329139.
Rett syndrome is an X-linked dominant neurodevelopmental disorder characterized by cognitive and communicative regression, stereotypies and loss of hand use. Epilepsy is present in 50% to 90% with approximately one-third having refractory epilepsy. The ketogenic diet has been used as an antiseizure therapy for more than a century; however, there is limited data on its use in Rett syndrome. In this retrospective single-center case series, we present 9 children with Rett syndrome who were placed on ketogenic diet. There was ≥50% improvement in seizure frequency in 67% (6/9) and 44% (4/9) at 6 and 12 months, respectively. Patients with ≥50% seizure reduction had an improvement in cognition and alertness. All 9 had a gastrostomy tube, with 8 starting ketogenic diet with a ketogenic formula and 1 with a food-based diet. The ketogenic diet is well tolerated and has high efficacy for seizures associated with Rett syndrome with two-thirds reporting significant seizure reduction. The presence of a gastrostomy tube can help the initiation and titration of ketogenic diet.
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10. 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.
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-day 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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11. Koumpouros Y. Digital Horizons: Enhancing Autism Support with Augmented Reality. J Autism Dev Disord. 2025.
PURPOSE: This paper aims to comprehensively review the application of Augmented Reality interventions in supporting individuals diagnosed with Autism Spectrum Disorder. The main research question guiding this review is: What effects do AR interventions have on various aspects of functioning in individuals with ASD? METHODS: A systematic review methodology was employed to analyze 49 articles published between 2013 and 2023. These articles were selected based on their relevance to AR interventions for individuals with ASD. The review examines the diverse technological landscape of AR interventions, the various platforms utilized, and the effectiveness of different AR techniques. RESULTS: Findings reveal the prevalence of smartphones, tablets, smart glasses, and head-mounted displays as primary platforms for AR interventions, with positive outcomes reported across various domains including social interaction skills, communication abilities, and academic performance. Marker-based, superimposition-based, and projection-based AR techniques demonstrate potential in creating personalized and engaging experiences tailored to the unique needs of individuals with ASD. CONCLUSION: Despite progress in communication and social skills interventions, gaps remain in understanding and addressing attention-related issues and emotion recognition. The review underscores the need for more rigorous study designs and objective evaluation methods to ascertain the efficacy of AR interventions for individuals with ASD. Looking ahead, collaborative efforts between researchers, developers, practitioners, and individuals with ASD are crucial for advancing innovation, addressing limitations, and ensuring the meaningful integration of AR technology into interventions aimed at enhancing the quality of life for individuals on the autism spectrum. Further exploration and utilization of the latest advancements in artificial intelligence and affective computing are warranted to develop solutions that effectively address real-world challenges faced by individuals with autism.
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12. Kumar M, Mehan S, Sharma T, Kumar A, Khan Z, Sharma AK, Kumar N, Gupta GD. Integrating Gut-Brain Axis: Exploring the Neurogastrointestinal Interactions and Therapeutic Potentials in Autism Spectrum Disorder. Endocr Metab Immune Disord Drug Targets. 2025.
This comprehensive review critically examines the gut-brain axis (GBA) and its implications in autism spectrum disorder (ASD). The GBA is a complex, bidirectional communication network that integrates the gastrointestinal tract, the central nervous system, and the gut microbiota. This axis is mediated through various physiological pathways, including the enteric nervous system (ENS), the vagus nerve, immune responses, and metabolic activities of gut microorganisms. ASD, a developmental disorder marked by social impairments and repetitive behaviors, presents with notable neurological irregularities. The review highlights the increased prevalence of gastrointestinal (GI) disturbances in individuals with ASD, suggesting a potential link between GI symptoms and the severity of ASD-related behaviors. This correlation is supported by evidence of altered gut microbiota composition in ASD, indicating significant interactions between the gut environment and neurological health. Moreover, the pathophysiology of ASD is explored with an emphasis on genetic and environmental contributions to neurodevelopmental impairments. Key topics include synaptic dysfunction, the roles of neurotransmitters like GABA and serotonin, and the impact of gut-brain interactions on ASD progression. Specifically, this review addresses how gut microbiota may influence metabolic alterations, immune dysregulation, oxidative stress, mitochondrial function, and neurotransmitter production in ASD. Emerging research on microbiome-based therapies for ASD is discussed, focusing on the potential of probiotics, prebiotics, and faecal microbiota transplantation (FMT) as novel interventions. Ethical considerations in this burgeoning field are also considered, highlighting the necessity for rigorous scientific inquiry and ethical oversight. The review advocates for a multidisciplinary approach to understanding and addressing the complexities of ASD. By integrating insights from genetics, neuroscience, psychology, and gastroenterology, a more comprehensive understanding of the role of GBA in ASD can be achieved. This interdisciplinary perspective is crucial for developing effective, individualized treatments and improving the quality of life for individuals with ASD.
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13. Laguna A, Pusil S, Paltrinieri AL, Orlandi S. Automatic Cry Analysis: Deep Learning for Screening of Autism Spectrum Disorder in Early Childhood. J Autism Dev Disord. 2025.
PURPOSE: The objective of this study is to identify the acoustic characteristics of cries of Typically Developing (TD) and Autism Spectrum Disorder (ASD) children via Deep Learning (DL) techniques to support clinicians in the early detection of ASD. METHODS: We used an existing cry dataset that included 31 children with ASD and 31 TD children aged between 18 and 54 months. Statistical analysis was applied to find differences between groups for different voice acoustic features such as jitter, shimmer and harmonics-to-noise ratio (HNR). A DL model based on Recursive Convolutional Neural Networks (R-CNN) was developed to classify cries of ASD and TD children. RESULTS: We found a statistical significant increase in jitter and shimmer for ASD cries compared to TD, as well as a decrease in HNR for ASD cries. Additionally, the DL algorithm achieved an accuracy of 90.28% in differentiating ASD cries from TD. CONCLUSION: Empowering clinicians with automatic non-invasive Artificial Intelligence (AI) tools based on cry vocal biomarkers holds considerable promise in advancing early detection and intervention initiatives for children at risk of ASD, thereby improving their developmental trajectories.
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14. Peter C, Antonietti E, Antoniou MP, Bucaille E, Osório JA, Manificat S, Rodríguez-Herreros B, Chabane N. E-coaching for parents of children with autism spectrum disorder: Protocol for a randomized controlled trial. Ann N Y Acad Sci. 2025.
Autism spectrum disorder (ASD) is a neurodevelopmental condition that significantly affects children’s development, posing a significant challenge in pediatric healthcare. Early parent-mediated interventions (PMIs) aim to improve a child’s social communication skills through joint engagement in daily activities. However, widespread access to this type of intervention is heavily limited due to implementation barriers and logistical challenges. The use of technology may offer promising alternatives to reach more families. This randomized controlled trial will assess the efficacy of an innovative e-coaching program designed to provide parents of young children with ASD with effective strategies via an online learning platform combined with personalized debriefings. It will compare e-coaching to standard Pediatric Autism Communication Therapy and to the absence of a PMI, with all three arms combined with community assistance as usual, in a cohort of 99 families with preschool children with ASD. The primary outcome will be the quality of parent-child interaction, measured through behavioral assessments and simultaneous dual gaze recording with head-mounted eye-tracking during semi-structured standardized play sessions. Secondary outcomes will include the child’s developmental level and parental well-being. If validated, e-coaching could be disseminated to reach more families and have a positive impact on their quality of life.
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15. Vitale C, Jaudon F, Lujan R, Bartolucci M, Celora L, Reisoli E, Ruggeri R, Petretto A, Thalhammer A, Cingolani LA. Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism. Brain. 2025.
Autism spectrum disorder is a complex neurodevelopmental disease characterized by altered cortical network excitability. Recent genetic studies have identified deep layer V cortical pyramidal neurons in the frontal cortex as central to autism pathophysiology, yet the cortical circuits, plasticity mechanisms and molecular signalling pathways involved remain poorly understood. Layer V pyramidal neurons consist of two main types with distinct functional roles: intratelencephalic neurons, which respond to low-frequency stimulation and project within the cortex and striatum, and pyramidal tract neurons, which are tuned to theta-frequency inputs and convey information to subcortical structures. Determining which of these two neuron types is more critical to autism pathophysiology and whether disruptions in their synaptic connectivity or intrinsic excitability contribute to autism-related dysfunctions would significantly advance our understanding of the disorder. Integrins, a family of cell adhesion molecules, are vital for neuronal function. The gene encoding β3 integrin (ITGB3) is genetically linked to autism spectrum disorder, with rare mutations identified in affected individuals, while Itgb3 knockout mice exhibit autism-like behaviours, including impaired social memory and increased grooming. However, it remains unclear why loss of β3 integrin is associated with autism spectrum disorder, how it disrupts cortical circuits, and which plasticity mechanisms and molecular pathways are involved. Here, we demonstrate that β3 integrin selectively regulates the excitability of pyramidal tract neurons in the medial prefrontal cortex. Using electrophysiology, proteomics and molecular approaches, we show that β3 integrin regulates the gain, adaptation and precision of action potential discharge by controlling the surface expression of Ca2+-activated SK2 channels. Genetic ablation of Itgb3 impaired intrinsic excitability and SK2 channel function in pyramidal tract neurons, with no effects in intratelencephalic neurons. Furthermore, we identified Tau, a protein traditionally linked to neurodegenerative diseases, as part of the SK2 channel interactome. Proteomic analyses revealed altered protein kinase A-dependent phosphorylation of Tau in Itgb3 knockout mice, while protein kinase A inhibition restored SK2 channel currents, thereby connecting phosphorylation changes to excitability deficits. Our findings expand the current mechanistic framework linking signalling pathway dysfunctions to cortical excitability deficits, highlighting the dysregulation of pyramidal tract neuron excitability as a core feature of autism pathophysiology and demonstrating the involvement of β3 integrin, SK2 channels, Tau and PKA in this process. Because pyramidal tract neurons serve as final integrators of cortical computations before relaying information outside the cortex, their impaired excitability may disrupt communication with subcortical targets, contributing to the complex pathophysiology of autism spectrum disorder.