Pubmed du 10/05/25
1. Bast N, Polzer L, Raji N, Schnettler L, Kleber S, Lemler C, Kitzerow-Cleven J, Kim Z, Schaer M, Freitag CM. Early intervention increases reactive joint attention in autistic preschoolers with arousal regulation as mediator. Eur Child Adolesc Psychiatry. 2025.
Reactive joint attention (RJA) describes shared attention on a cued target. This key ability is attenuated in autistic compared to non-autistic preschoolers with low cognitive ability, and thus trained during early intervention. We evaluated the development of RJA in matched autistic preschoolers within a randomized controlled trial of the naturalistic developmental behavioral intervention A-FFIP (intervention [n = 32] versus early intervention-as-usual [EIAU, n = 28]), which is further compared to non-autistic preschoolers (n = 52). A screen-based eye-tracking paradigm assessed RJA at baseline, after 12 months (end-of-intervention, 78% retention), and after 36 months (follow-up, 44% retention). Corresponding pupil size changes were utilized to investigate arousal as a mediator in RJA group differences. Generalized linear mixed models were applied to compare RJA likelihood between groups and assessment timepoints. Across timepoints, RJA likelihood was lower in autistic versus non-autistic preschoolers (ORs = 0.07-0.27). The A-FFIP – but not the EIAU group – showed an increase in RJA likelihood at end-of-intervention (OR = 1.52) and follow-up (OR = 2.38). Across both autistic groups, an increase in RJA likelihood after 12 months predicted improved social responsiveness at 36-months follow-up (β = -1.22). A higher baseline pupil size within trials was associated with a lower RJA likelihood (β = -0.32) and mediated the autistic group difference on RJA likelihood in a causal mediation analysis. The A-FFIP early intervention increased eye-tracking derived RJA in autistic preschoolers up to two years after end of intervention, which likely cascaded on improved social responsiveness. Arousal regulation is outlined as a promising mediating mechanism.
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2. 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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3. Dell’Osso L, Nardi B, Muti D, De Felice C, Tognini V, Parri F, Giovannoni F, Del Grande F, Bonelli C, Massimetti G, Pini S, Fiorillo A, Carpita B. Comorbidity Between Hikikomori and Autistic Traits May Be Identified as a Phenotypical Presentation Characterized by Greater Severity. Brain Sci. 2025; 15(5).
Objectives: Hikikomori is a condition characterized by extreme social withdrawal, functional impairment, and mental distress, which has gained increasing recognition worldwide. While it can be associated with comorbid psychiatric disorders, hikikomori shares similarities with autism spectrum, prompting investigations into their relationship. Given that hikikomori commonly manifests in early adulthood, this study aimed to explore the relationship between autistic features and hikikomori tendencies among university students. Methods: A total of 2037 university students were recruited via an online survey and assessed with the Adult Autism Subthreshold (AdAS) Spectrum and the Hikikomori Questionnaire (HQ-25). Participants were categorized into four groups: healthy controls (HCs), subjects with hikikomori tendencies (HKs), subjects with significant autistic traits (ATs), and subjects with both significant ATs and hikikomori tendencies (AT-HKs). Results: Results showed significant effects of both hikikomori presence and significant ATs on AdAS Spectrum and HQ-25 scores, while a significant effect of their interaction was detected on AdAS Spectrum scores. The AT-HK group consistently scored higher on both AdAS Spectrum and HQ-25 compared to other groups, with the AT and HK groups outperforming HCs in specific domains. HQ-25 Socialization and Isolation domains predicted higher AdAS Spectrum scores in hikikomori subjects, while various AdAS Spectrum domains served as predictors of HQ-25 scores in AT subjects. Conclusions: This study highlights a significant relationship between ATs and hikikomori tendencies in university students, suggesting that their comorbidity may represent a more severe phenotype, where each condition may exacerbate the other.
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4. 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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5. Okazaki T, Aoki C, Shinzato S, Adachi K, Nanba E. Awareness and knowledge of pediatricians regarding genetic testing for Fragile X syndrome in Japan: A National Survey of Pediatricians Managing Developmental Delay/Intellectual disability. Brain Dev. 2025; 47(4): 104367.
BACKGROUND: Fragile X syndrome (FXS) commonly cause developmental delay, intellectual disability, and autism spectrum disorder. Although genetic testing has been available and included in Japan’s national health insurance since 2016, the number of cases diagnosed with FXS remains low. This study aimed to explore the levels of awareness and understanding of FXS among pediatricians managing developmental delay/ intellectual disability in Japan, particularly between pediatrician with and without clinical genetics certification (or clinical experience with FXS). METHODS: A survey involving 1217 certified pediatric neurologists from the Japanese Society of Pediatric Neurology and 367 members of the Japanese Society of Pediatric Genetics was conducted. Additional participants were recruited from an online mailing list of 1469 pediatric neurologists. The survey comprised questions on demographics, knowledge about FXS, and genetic testing practices. The responses were analyzed using Chi-square and Fisher’s exact tests, and a p-value <0.05 was considered statistically significant. RESULTS: Out of 386 respondents, 326 had experience ordering some kind of genetic testing, including 78 certified clinical geneticists. Knowledge gaps were significant between clinical geneticists and non-genetic specialists. While 20 % of non-genetic specialists were unaware of insurance-covered FXS genetic testing, this percentage was lower among those with clinical experience in FXS cases. Many respondents, irrespective of certification, struggled to determine the indications for requesting FXS genetic testing. Furthermore, non-genetic specialists reported more difficulty providing genetic counseling owing to the psychological burden on mothers. CONCLUSION: This study highlights the necessity for expanding education and training on FXS among pediatricians in Japan. Addressing these knowledge gaps may enhance FXS diagnostic rates and improve the management of affected individuals and families. Future efforts should focus on strengthening the collaboration between clinical geneticists and general pediatricians and establishing reliable genetic counseling support systems.
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6. Parsons K, Payne S, Bhaska L, Wallace J, Holt N. A systematic review of behaviour change techniques employed in interventions aimed to change physical activity behaviour in autistic individuals. Psychol Sport Exerc. 2025; 79: 102867.
BACKGROUND: Autistic individuals experience disproportionately poor physical and mental health outcomes, many of which can be mitigated through lifestyle modification such as increasing levels of physical activity. While behaviour change interventions hold promise in promoting physical activity, their effectiveness in autistic populations remains underexplored, particularly in relation to theoretical foundations and intervention content. OBJECTIVE: To systematically review behaviour change techniques applied to physical activity interventions for autistic individuals, evaluate application of psychological theory, and adaptations made for autism. METHODS: A systematic search of five databases was conducted in accordance with PRISMA guidelines. Eligible studies were intervention-based, targeted physical activity behaviour as a primary outcome, and included autistic participants. Data were narratively synthesised, and intervention components were coded using the Behaviour Change Taxonomy (BCTTv1). Intervention efficacy was evaluated using a ‘promise ratio’ and statistical comparisons were conducted to assess associations between intervention promise, Behaviour Change Techniques, theory use, and autism-specific adaptations. RESULTS: Thirty-three studies were included (n = 26 child-focused; n = 7 adult-focused). Eleven studies reported explicit use of behaviour change theory, with no significant association between theory use and intervention promise. A total of 266 BCTs were coded; most frequently used was instruction on how to perform the behaviour, though not associated with efficacy. In adults, promising techniques included goal setting and behavioural rehearsal; in children, demonstration and reinforcement were effective. Autism-specific adaptations were significantly associated with intervention promise and included sensory considerations and structured environments. CONCLUSIONS: Theory-informed, autism-adapted interventions show potential for promoting physical activity in autistic populations. Future research should prioritise high-quality designs, meaningful involvement of autistic individuals, and rigorous application of behavioural theory. PROSPERO REGISTRATION: CRD42021235140.
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7. Pye K, Gold L, Le HND, Iacono T. « What My Son Needs Is Me. What I Need Is… Guidance »: Caregiver Perspectives About Early Autism Supports Amid Changing Attitudes and Policies. J Autism Dev Disord. 2025.
The effectiveness of early supports for Autistic children has predominantly been measured in terms of changes in their development, such as language, cognition or adaptive behaviour. The benefits of early supports to children include, and are moderated by, effects on caregivers and families. We sought to understand perspectives of primary caregivers of children who, whether or not formally diagnosed, they believed to be Autistic, about the value of different aspects of early supports. We interviewed 19 caregivers, selected from a larger survey sample (n = 95) to cover a range of backgrounds and experiences accessing supports. We conducted reflexive thematic analysis to identify themes. We identified four themes through reflexive thematic analysis. Themes reflected common aspirations to optimise their children’s future wellbeing. Despite public funding for early supports, families’ other resources (especially time and mental load) were under pressure, impacting other activities such as employment and family relationships. Participants preferred supports that were adaptable to their changing needs, neuroaffirming and practical; they particularly valued authentic emotional support from therapists and sought providers they could trust. Our analysis suggests that family experiences of accessing supports might be just as important as the intended outcomes.
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8. Srivastava V, O’Reilly C. Characteristics of cerebrospinal fluid in autism spectrum disorder – A systematic review. Neurosci Biobehav Rev. 2025; 174: 106202.
Autism Spectrum Disorder (ASD) is a range of neurodevelopmental conditions characterized by impaired social interaction, learning, and restricted or repetitive behaviors. The underlying causes of ASD are still debated, but researchers have found many physiological traits like gut problems and impaired immune system to help understand the etiology of ASD. Cerebrospinal fluid (CSF) plays a critical role in maintaining the homeostasis of the neuronal environment and has, therefore, been analyzed in multiple conditions impacting the central nervous system. The study of CSF is crucial to understanding neurological disorders as its composition changes with the disorders, and these changes may indicate various disorder-related physiological mechanisms. For this systematic review, we searched PubMed, Scopus, and Web of Science for studies published between 1977 and 2025 and selected 49 studies after manual screening. We took stock of the evidence supporting the hypothesis that ASD alters the properties and composition of CSF. We systematically report on the different attributes of CSF in the ASD population that could be potential biomarkers and assist in understanding the origins and progression of ASD. We found that in CSF, immune markers, proteins, extra-axial CSF, folate, oxytocin, and vasopressin showed changes in ASD compared to the neurotypicals. We observed gaps in the literature due to variations in age and sample size and noted biases related to sex (i.e., samples are predominantly including male participants) and age (i.e., a handful of studies were conducted on adults). Our review highlights the need for more research on CSF in ASD to improve our understanding of this disorder and identify CSF biomarkers.
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9. Sterrett K, Pizzano M. Sensitivity and Expected Change of Commonly Used Social Communication Measures in Longitudinal Research of Young Autistic Children. J Autism Dev Disord. 2025.
Social communication measures used to track change in autistic children have not undergone rigorous psychometric evaluation. There is little data on their expected change or sensitivity to change. Meta-analytic techniques were used to examine sensitivity to change and expected change over time and whether these are influenced by factors like children’s age and the presence of intervention. Pooled effect sizes were generated within measures, rather than within broader constructs. Change over time was small to medium, although there was variability. Most outcomes were not sensitive to change over time. Change in some measures was influenced by child characteristics and methodological characteristics of included studies such as study quality and the method of scoring measures (e.g., using age-equivalents versus standard scores). Tests measuring similar constructs can vary in their expected change, and so care is needed when selecting them.
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10. Vassall SG, Wallace MT. Sensory and Multisensory Processing Changes and Their Contributions to Autism and Schizophrenia. Curr Top Behav Neurosci. 2025.
Natural environments are typically multisensory, comprising information from multiple sensory modalities. It is in the integration of these incoming sensory signals that we form our perceptual gestalt that allows us to navigate through the world with relative ease. However, differences in multisensory integration (MSI) ability are found in a number of clinical conditions. Throughout this chapter, we discuss how MSI differences contribute to phenotypic characterization of autism and schizophrenia. Although these clinical populations are often described as opposite each other on a number of spectra, we describe similarities in behavioral performance and neural functions between the two conditions. Understanding the shared features of autism and schizophrenia through the lens of MSI research allows us to better understand the neural and behavioral underpinnings of both disorders. We provide potential avenues for remediation of MSI function in these populations.