Pubmed du 09/05/25

Pubmed du jour

1. Antunes FTT, Zamponi GW. Exploring the role of Cav3.2 calcium channels in autism-like cognitive behavior induced by prenatal valproic acid exposure. Neuroscience. 2025.

Recent findings indicated that CACNA1H mutations may contribute to Autism Spectrum Disorder (ASD) by reducing Cav3.2 activity, disrupting neuronal function, and brain development. To explore how Cav3.2 deficiency affects autism-related cognition, we induced autism-like behaviors in wild-type (WT) and Cav3.2 knockout mice (KO) using the prenatal valproic acid model (pre-VPA). We analyzed how cognitive behavior (repetitive behavior, spatial working memory, sociability, social preference, and anxiety) in this model is differentially impacted in WT and Cav3.2 KO mice of different sexes and ages. In WT mice, pre-VPA increased repetitive behavior and self-grooming (>75 %). In contrast, there was no pre-VPA-induced increase in repetitive behavior in Cav3.2 KO male mice, and there was a reduction in self-grooming in adult KO females (∼40 %). While pre-VPA impaired spatial working memory in wild-type adult mice of both sexes, Cav3.2 KO mice were protected. Pre-VPA also induced sociability and social preference deficits in WT mice of both sexes. Deletion of Cav3.2 rescued sociability deficits in juvenile and adult male but not female mice. In addition, Cav3.2 channels appeared to contribute to social preference impairment in juvenile male KO mice and both sexes in adulthood. Additionally, KO mice exposed to pre-VPA exhibited lower anxiety levels in the elevated plus maze test when compared to KO controls. Together, our results provide new insights into the role of Cav3.2 channels in ASD-related behavior and suggest that these channels contribute to a range of behavioral deficits.

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2. Battle AE, Elmaoued AA. Reduction in Emergency Visits With Risperidone Long-Acting Injection in a Patient With Autism Spectrum and Borderline Personality Disorders. Prim Care Companion CNS Disord. 2025; 27(2).

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3. Bizzari V, Schnitzler T, Fuchs T. EAIE-Scale-The Examination of Autistic Intersubjective Experiences. A qualitative tool to the exploration of sociality. Psychopathology. 2025: 1-17.

INTRODUCTION: The Examination of Autistic Intersubjective Experiences is a semi-structured interview aimed at a phenomenological exploration of experiential and subjective ways of dealing with sociality. METHODS: As a qualitative study, this work can be understood in continuity with EASE (Examination of Anomalous Self Experience [1] and EAWE (Examination of Anomalous World Experience, [2]. While these models focus on anomalies of selfhood and experience of the external world respectively, this semi-structured interview focuses instead on the divergent ways dealing with intersubjective experience and on the difficulties that people with a diagnosis of autism experience in the social domain. CONCLUSION: The advantages are both theoretic and practical: from a philosophical perspective, it will be interesting to observe how intersubjectivity works. From a clinical perspective, the collected data will be useful both for clinicians and caregivers, allowing them to better understand and cope with the autistic subject, and favor the communication between different social styles.

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4. Bunn TL, Seals J, Quesinberry D, Murphy A, Costich JF. Nonfatal injury emergency department visits and inpatient hospitalizations among persons under age 65 with an intellectual and developmental disability or deaf or hard of hearing disability. Inj Epidemiol. 2025; 12(1): 27.

BACKGROUND: Vulnerable populations at risk of injury include persons with intellectual and developmental disabilities (IDD), and persons who are deaf or hard of hearing (DHH). The purpose of this study was to describe and compare emergency department and inpatient hospitalization (ED + IP) injury rates and rate ratios by injury type among persons under age 65 with IDD or with DHH to those without IDD or DHH. METHODS: This is a descriptive population-based retrospective cross-sectional study of injuries among patients under the age of 65 with an IDD disability or a DHH disability using Kentucky ED + IP discharge datasets from 2019 to 2023. Injury rates and injury rate ratios were calculated for those under the age of 65 with an IDD or a DHH disability and without an IDD or a DHH disability, using number of persons under age 65 with or without the related disability as the denominator. RESULTS: The overall injury rate was lower for persons under age 65 with an IDD or DHH compared to those without those disabilities in 2023 (1 and 3 per 100,000 population, respectively). IDD or DHH disability types had significantly lower overall ED + IP injury rate ratios compared to those without those disabilities (IDD: 0.667 [95% CI: 0.640-0.694], DHH: 0.658 [95% CI: 0.633-0.683]). When ED + IP injury type rate ratios were compared, IDD or DHH persons had higher injury rate ratios for self-harm (IDD: 8.740 [95% CI: 7.783-9.815], DHH: 1.7846 [95% CI: 1.402-2.272]), assault (IDD: 1.386 [95% CI: 1.173-1.637], DHH: 1.310 [95% CI: 1.115-1.540]), unintentional falls (IDD: 1.540 [95% CI: 1.436-1.633], DHH: 1.283 [95% CI: 1.201-1.372]), and drug poisonings (IDD: 2.401 [95% CI: 2.103-2.740], DHH:1.620 [95% CI: 1.391-1.886]) compared to those without such disabilities. Those with IHH or DHH who were treated for injuries incurred triple the charges of patients without these conditions (~$17,086 IDD; $19,550 DHH; and $5,216 no IDD or DHH disabilities). CONCLUSIONS: These findings have implications for health policy at the state and federal level. Clinical care interventions to reduce assault, self-harm, drug poisonings and unintentional injuries and healthcare utilization in persons with IDD or DHH should be publicly funded or covered by health insurance.

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5. Chung EY, Sin KK, Chow DH. Qualitative outcomes and impact of a robotic intervention on children with autism spectrum disorder: A multiple embedded case study. Br J Occup Ther. 2024; 87(9): 574-82.

Most studies of social robot interventions for children with autism spectrum disorder have been laboratory experiments focusing on component skills. There is insufficient evidence documenting the qualitative impact of such programmes on social development and participation of children with autism spectrum disorder. This study aimed to identify the qualitative outcomes of a robot-mediated social skills training programme for children with autism spectrum disorder, examine the impact of such programmes on children’s social participation and identify the essential elements of robotic interventions that are conducive to children’s social development. A case study approach with a multiple case study design was adopted. Sixteen children with autism spectrum disorder, aged 5-11 years, were included. Participants received 12 weekly sessions of robot-mediated social skills training. The successful outcomes relating to social participation were identified as enhanced verbal expression, social awareness and emotional reciprocity. The impacts of the programme on personal development were identified as enhanced self-esteem, self-confidence and emotional expression. Robot friendship, the role of the robot as a facilitator and the presence of a human instructor capable of leading the programme were identified as essential elements of the positive changes. The encounter with a social robot was regarded as meaningful and important to the children with autism spectrum disorder.

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6. Edwards C, Love AM, Ying Cai R, Tutton T, Beardsley E, Gibbs V. Autistic-led insights on airport accessibility: A retrospective analysis of environmental assessments. Autism. 2025: 13623613251337200.

Autistic people often encounter significant barriers when navigating airports, largely due to overwhelming sensory environments, stringent security procedures, and crowded spaces. This study aimed to enhance understanding of airport accessibility by retrospectively analyzing reports from Autistic-led environmental assessments conducted at six Australian airports between 2017 and 2024. Drawing on an evidence-informed autism-friendly framework, the assessments focused on eight key elements, including sensory adaptations, communication supports, and preparation and predictability. Through reflexive thematic analysis, two key themes were generated: (1) navigating the sensory landscape and (2) help passengers navigate with confidence. Our findings underscore the importance of sensory adjustments-such as natural lighting and quiet spaces-alongside clearer visual aids and communication supports. Importantly, this study represents the first systematic application of autism-friendly principles to airport environments, offering practical, evidence-based recommendations for more inclusive design. By foregrounding the perspectives of Autistic individuals, this research highlights the need for participatory design approaches to create public spaces that are genuinely accessible and supportive for Autistic travelersLay abstractAirports can be challenging for Autistic people because of overwhelming sensory experiences like bright lights and loud noises, security processes, and crowded spaces. This study analyzed reports from six Australian airports, produced between 2017 and 2024, to understand how airports can be made better for Autistic travelers. These reports were based on assessments led by Autistic people and used a specific framework to evaluate areas like sensory experiences and communication needs. The study found two main ways to improve accessibility: (1) reducing sensory challenges, like loud noises or bright, overwhelming areas, and (2) improving communication and wayfinding to make navigation clearer and easier. Some of the recommendations included providing quiet spaces for travelers, using softer and more natural lighting, and improving signs to make it easier for people to navigate airports. This is the first study to apply autism-friendly principles to airports and shows the importance of involving Autistic people in the design of more inclusive public spaces. The findings offer practical recommendations for airports around the world to better support Autistic travelers.

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7. Li W, Qiu X, Chen J, Chen K, Chen M, Wang Y, Sun W, Su J, Chen Y, Liu X, Chu C, Wang J. Disentangling the Switching Behavior in Functional Connectivity Dynamics in Autism Spectrum Disorder: Insights from Developmental Cohort Analysis and Molecular-Cellular Associations. Adv Sci (Weinh). 2025: e2403801.

Characterizing the transition or switching behavior between multistable brain states in functional connectivity dynamics (FCD) holds promise for uncovering the underlying neuropathology of Autism Spectrum Disorder (ASD). However, whether and how switching behaviors in FCD change in patients with developmental ASD, as well as their cellular and molecular basis, remains unexplored. This study develops a region-wise FCD switching index (RFSI) to investigate the drivers of FCD. This work finds that brain regions within the salience, default mode, and frontoparietal networks serve as abnormal drivers of FCD in ASD across different developmental stages. Additionally, changes in RFSI at different developmental stages of ASD correlated with transcriptomic profiles and neurotransmitter density maps. Importantly, the abnormal RFSI identifies in humans has also been observed in genetically edited ASD monkeys. Finally, single-nucleus RNA sequencing data from patients with developmental ASD are analyzed and aberrant switching behaviors in FCD may be mediated by somatostatin-expressing interneurons and altered differentiation patterns in astrocyte State2. In conclusion, this study provides the first evidence of abnormal drivers of FCD across different stages of ASD and their associated cellular and molecular mechanisms. These findings deepen the understanding of ASD neuropathology and offer valuable insights into treatment strategies.

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8. Lin DX, Chang YT, Lo YC, Weng SM. Impact of ASD and ADHD on pediatric asthma exacerbations: a retrospective analysis of the Nationwide Inpatient Sample 2005-2020. Ital J Pediatr. 2025; 51(1): 135.

BACKGROUND: To explore the impact of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) on in-hospital outcomes in children hospitalized for asthma exacerbations. METHODS: This retrospective study utilized data from the Nationwide Inpatient Sample (NIS) database between 2005 and 2020. We included children aged 5 to 19 years admitted for asthma exacerbations. Children were categorized into four groups: those with ASD only, ADHD only, both ASD and ADHD, and neither condition. Propensity score matching was used to balance baseline characteristics. RESULTS: A total of 155,893 children hospitalized for asthma were identified, with 2,443 patients remaining after propensity score matching. Children with both ASD and ADHD had the highest total hospital costs, followed by those with ASD alone. Children with both ASD and ADHD had significantly increased risks of overall complications (aOR = 1.69, 95% CI: 1.27-2.26), including epilepsy (aOR = 3.56, 95% CI: 1.61-7.87), pneumonia (aOR = 2.00, 95% CI: 1.33-3.03), and constipation (aOR = 4.22, 95% CI: 1.58-11.26), compared to those without either condition. Children with ASD alone also had elevated risks for epilepsy (aOR = 3.79, 95% CI: 1.79-8.03) and constipation (aOR = 4.33, 95% CI: 1.78-10.54). CONCLUSION: In the US children hospitalized for asthma exacerbations, those with both ASD and ADHD, or ASD alone, face significantly greater costs and higher risks of specific complications, particularly epilepsy, pneumonia, and constipation. The findings suggest a compounded impact of these neurodevelopmental conditions on asthma children, emphasizing the need for specialized care to manage these patients effectively and reduce the risks.

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9. Ouardouz M, Jasinski P, Khalife M, Mahoney JM, Hernan AE, Scott RC. Hippocampal-prefrontal functional neural networks in a rat model of fragile X syndrome are poorly organized with limited resiliency. Sci Rep. 2025; 15(1): 16089.

Fragile X Syndrome (FXS) is a common cause of autism spectrum symptoms. The genetic mutation results in multiple molecular alterations that are hypothesized to negatively impact neural circuit development although the nature of any functional neural dynamic consequences remain unclear. Therefore, the characteristics of hippocampal-prefrontal (H-PFC) network dysfunction were investigated in a rat model of FXS. FMR-KO and control rats underwent behavioral tests assessing sociability, memory, and anxiety to validate and replicate previously recognized deficits. Single-unit electrophysiology in the H-PFC circuit during exploration was used to measure patterns of action potential firing that were then compared between groups using generalized linear mixed models. FMR-KO rats demonstrated significant behavioral deficits in sociability, spatial learning, and anxiety. These rats also exhibited abnormal firing patterns outside of times when specific behavioral tasks were being performed. The network firing is less precise, more fragmented and with poor H-PFC communication in FXS. These findings suggest that disruptions in ‘exploration’ neural network dynamics impair the ability of networks to be appropriately engaged during specific behavioral tasks, leading to the observed deficits in social behavior, memory, and anxiety.

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10. Parra A, Jimenez-Estrada JA, Vásquez-Amell V, Cazalla M, Rodríguez-Canó M, Gallego-Zazo N, Miranda L, Mora-Gómez M, Vallespín E, Mena R, Fernández L, Silván C, Arias P, Dominguez-Jiménez M, Guillén-Navarro E, Nevado J, Tenorio-Castano J, Ruiz-Pérez VL, Lapunzina P. Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome. Clin Genet. 2025.

We present a 28-year-old Spanish female with a de novo heterozygous variant in FMR1 (NM_002024.6:c.1061_1062delAA), p.(Lys354Thrfs*15) detected by whole-exome sequencing and confirmed by Sanger sequencing from cDNA. She was born full-term with neonatal jaundice requiring phototherapy. At age 11, she exhibited weight and head circumference > 97th percentile, global developmental delay, mild ID (IQ: 71), and hyperactivity. FMR1 CGG analysis was normal. NGS panel of over 200 OGS-related genes found no pathogenic variants. By age 28, she presented with macrocephaly, coarse facial features, mild joint hypermobility, left talo-valgus, a port-wine stain, a café-au-lait spot, and a piezogenic papule. Herein, we describe a clinical and molecular report of the second FXS female patient due to a heterozygous point variant. This study was approved by the ethical committee of Hospital Universitario La Paz (CEIm PI-446), and informed consent was obtained from the patient and her parents.

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11. Qiao FQ, Du TT, Guo Y, Dong YJ, Li SN, Qiang X, Wang DW. Knowledge mapping of autistic traits: a visual analysis via CiteSpace. Front Psychiatry. 2025; 16: 1522299.

OBJECTIVE: The aim of this study was to analyze the research hotspots and frontiers in the field of autistic traits (AT) between 1997 and 2024. METHODS: The Web of Science Core Collection (WOSCC) is used as a data source in the study, analyzing 1,044 academic articles on AT published between 1997 and 2024. The included articles were visually analyzed using CiteSpace 6.2.R4 software, which is used to map keywords and core literature related to AT and to analyze research progress and emerging hotspots in the field. RESULTS: A total of 1,044 articles have been included in the analysis, and the total number of articles has demonstrated an upward trajectory. The nations of England, the USA, and Australia are at the vanguard of this body of literature. With regard to research institutions, the University of London has attracted considerable attention as a result of its substantial contributions to the field of AT. The most relevant research is published in the Journal of Autism and Developmental Disorders. CONCLUSION: The scope of AT research has expanded considerably, encompassing psychology, education, and other disciplines. The research dimensions extend beyond behavioral, genetic, cognitive, and neural aspects to include environmental and hormonal factors. Furthermore, the study population has evolved from twins and the general population to focus on specific groups, such as individuals with psychiatric disorders. This broadening of focus has led to a significant increase in AT research in recent years. In sum, this study provides a comprehensive perspective that can inform and guide further in-depth research on AT.

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12. Schepker K, Freitag CM. Was There Really a Connection Between Hans Asperger and Child Euthanasia?. Z Kinder Jugendpsychiatr Psychother. 2025; 53(3): 121-5.

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13. Shi F, He M, Li J, Wang X, Zhang D. Parents’ experience with the management of sleep disorders in children with autism: A qualitative study. Res Dev Disabil. 2025; 162: 105027.

PURPOSE: Sleep disorders are a common co-occurring problem in children with autism, and parents are the main implementers in the process of their management. However, there is a paucity of research on parents’ experiences of managing sleep disorders in children with autism, especially in Asian countries. The aim of this study is to explore the experiences of managing sleep disorders in children with autism in China from a parental perspective. MATERIALS AND METHODS: We used a descriptive qualitative research method to conduct semi-structured interviews with 14 parents of children with both autism and sleep disorders. Data were analysed according to the Colaizzi descriptive analysis framework. RESULTS: Data analysis identified three macrothemes and eight subthemes: (1) sleep management dilemmas: lack of knowledge and skills in sleep disorder management, health professionals do not pay attention to sleep problems; (2) physical and psychological burdens: physical exhaustion, guilt, anxiety, helplessness; (3) different coping styles: positive coping, negative coping. CONCLUSIONS: Parents encounter challenges in the management of sleep disorders in their children with autism and respond in different ways. Healthcare professionals should enhance their own professional training and take appropriate improvement measures in order to provide help and support to parents.

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14. Su PL, Ramsay G, Bene ER, Yoo H, Long HL, Klaiman C, Pulver SL, Richardson S, Pileggi ML, Brane N, Oller DK. Parentese Elicits Infant Speech-Like Vocalizations in Typically Developing and Autistic Infants. Infancy. 2025; 30(3): e70022.

Caregivers across many cultures modify their speech when interacting with infants or young children. This type of speech, commonly known as « parentese », is characterized by greater pitch variations, longer duration, and louder volume compared to speech directed to adults. Parentese has been found to facilitate language learning. It has been proposed that parentese may benefit early language development because its exaggerated prosody encourages infants to interact with caregivers. We tested this hypothesis by investigating if parentese temporally elicits infant speech-like vocalization in typically developing (TD) and in autistic infants using sequential analysis. We compared caregiver-child vocal contingencies coded from 847 days-long recordings of 103 TD infants and 44 infants with a confirmed diagnosis of autism spectrum disorder (ASD) at 3 years. Findings revealed that infants were more likely to produce a speech-like vocalization following an adult utterance directed to them in parentese compared to an adult utterance directed to them in adult register. Additionally, the strength of the sequential association between parentese or adult register and infant speech-like vocalization did not differ across diagnostic groups. These findings support the notion that parentese may facilitate language learning via encouraging infants to respond and interact with their conversation partner.

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15. Üstün B, Altuntaş O. Class of international functioning disability and health core sets for autism spectrum disorder: Occupational therapists’ perspective. Br J Occup Ther. 2025; 88(2): 85-92.

PURPOSE: This study was conducted to examine the ICF Core Sets prepared for autism from the perspective of occupational therapists within the scope of the International Classification of Functioning, Disability, and Health. MATERIALS AND METHODS: Data were collected from 70 occupational therapists working with children diagnosed with autism spectrum disorder. Opinions of the participants were collected using the three-stage Delphi technique. RESULTS: In the first Delphi round in which 70 occupational therapists from our country participated, a total of 2952 concepts related to autism spectrum disorder were named. The collected responses were associated with 142 ICF categories, excluding personal factors, and then the number of categories was reduced to 132 because 10 of them were mentioned by less than 5% of the respondents. While consensus was achieved in 82% of the 111 categories in the comprehensive ICF Core Sets for autism spectrum disorder . DISCUSSION AND CONCLUSION: According to the results of this study, ICF-CSs prepared for autism spectrum disorder overlap with the perspective of occupational therapists to define the physiological, occupational, environmental, and personal factors affecting individuals with autism spectrum disorder . The high level of consensus among occupational therapists underscores the practical applicability and acceptance of ICF Core Sets in the field.

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16. Žic Ralić A, Bubalo S, Vrankić Pavon M. Social and Emotional Competencies of Children with Autism Spectrum Disorder and/or Intellectual Disability. J Autism Dev Disord. 2025.

Children with ASD and children with ID face numerous challenges in social and emotional functioning. The aim of this study is to explore differences in social and emotional competencies between children with ASD, children with ID and children with comorbid ASD/ID. Methods: Parents (N = 177) assessed the social and emotional competencies of elementary school-aged children with ASD (N = 50), children with ID (N = 84), and children with comorbid ASD/ID (N = 43) using the Devereux Student Strengths Assessment (DESSA). DESSA measures 8 key social and emotional competencies. In our study, no differences in social and emotional competencies were found between children with ASD and children with ID. Children with comorbid ASD/ID did not differ from children with ASD, but compared to children with ID, parents rated their self-awareness, social awareness, relationship skills, and optimistic thinking as significantly lower. The results were discussed considering the type of school attended by the children, the level of intellectual disability of children with ID, and the complexity of functioning of children with ASD. All three groups of children require tailored interventions for social and emotional learning to support their functioning in daily activities at home, at school and in peer groups.

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