Pubmed du 18/09/25

Pubmed du jour

1. Appah J, Senoo-Dogbey VE, Wuaku DA, Akpagloh MC, Armah D, Laari L. Exploring the Coping Resources of Caregivers with Children Diagnosed with Autism Spectrum Disorders in Southern Ghana. Sage Open Pediatr. 2025; 12: 30502225251374932.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition affecting about 1 in 160 children globally. Caring for children with ASD can be challenging, requiring effective coping strategies. OBJECTIVE: To explore coping strategies and resources used by caregivers of children with ASD in a Ghanaian healthcare setting. METHODS: A qualitative phenomenological approach with an exploratory descriptive design was used. Ten caregivers of children with ASD at the Greater Accra Regional Hospital’s neurology clinic were purposively selected. Data were collected through semi-structured interviews and analyzed thematically using the ABC-X model of family stress. RESULTS: Caregivers mainly adopted emotion-focused coping strategies, such as acceptance, optimism, prayer, and seeking knowledge. These were supported by individual resilience, familial assistance (especially from spouses and siblings), and communal support from religious groups and healthcare providers. CONCLUSION: Caregivers rely heavily on emotion-focused strategies and support systems. Strengthening these supports at individual, familial, and communal levels is essential.

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2. Beck AK, Souza C, Garrido MV, Barahona-Correa JB, Carmo JC, Lachmann T, Czernochowski D. Neural correlates of semantic typicality during episodic memory retrieval in autism spectrum disorder. Sci Rep. 2025; 15(1): 32577.

This study examined the effects of item typicality (typical vs. atypical), encoding type (categorical vs. perceptual), and neurodivergence (autistic vs. neurotypical male adults) on memory discrimination and associated neuronal patterns. Despite similar overall memory discrimination performance between groups, analyses of event-related potentials revealed that neurotypicals displayed an early ERP effect, suggesting reliance on familiarity-driven processes. In contrast, autistic participants showed a later ERP modulation, indicating a reliance on recollection-based processes. Notably, relying on either familiarity or recollection influenced the activation in the post-old/new-response period, in which only neurotypical adults needed to reinstate item details for the subsequent Remember-Know-Guess (R-K-G) judgments. These findings suggest that autistic adults may recruit different cognitive processes to achieve memory performance comparable to neurotypical adults. Additionally, our results suggest that item typicality interacts with encoding type in modulating the cognitive processes underlying memory retrieval and their neural correlates in both autistic and neurotypical adults. The study highlights the need to investigate the role of semantic processes in episodic memory retrieval in both neurotypical and autistic individuals.

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3. Chen C, Tsai SY, Tahamata VM, Chuang YH, Cheng Y, Fan YT. Decoding the brain’s excitatory-inhibitory metabolite balance in relation to sensory responsivity and autistic traits. Neuroimage. 2025; 320: 121470.

Brain excitatory-inhibitory (E-I) balance plays a fundamental role in sensory and social processing. Alterations in E-I neurotransmitter systems-commonly indexed by the glutamate and glutamine (Glx)/GABA ratio-have been implicated in various neurodevelopmental conditions, including autism spectrum disorder (ASD). However, how individual differences in E-I balance relate to sensory responsivity and autism-spectrum-related traits in neurotypical populations remains poorly understood. In this study, we evaluated E-I balance across sensory-related brain regions in 92 neurotypical participants to explore its association with sensory responsivity and autistic traits. Our findings revealed that individuals with higher levels of self-reported autistic traits also exhibited stronger associations with sensory responsivity and higher Glx/GABA ratios. In cross-correlation analyses, the Glx/GABA ratio was significantly associated with both autistic traits and sensory responsivity, whereas Glx alone showed fewer associations. Clustering analyses further grouped autistic traits with the Glx/GABA ratio, rather than with the individual metabolite concentrations, suggesting that the ratio may be more behaviorally relevant than either metabolite alone. Moreover, the prefrontal Glx/GABA ratio demonstrated stronger associations with both autistic traits and sensory responsivity compared to other brain regions, a finding further supported by hierarchical moderation and mediation analyses. Overall, these results suggest that individual variability in regional E-I balance may be meaningfully related to sensory and social-affective traits, even within non-clinical populations. These findings may offer insights into the broader neurobiological mechanisms underlying sensory-affective processing across the general population spectrum.

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4. Desrosiers J, Gagnon D, Ostrolenk A, Boutros A, Courchesne V, Mottron L. How is calendar calculation in autism possible? A language model. Psychol Rev. 2025.

Detailed case studies of individuals with brain injuries have long provided valuable insights into how cognitive functions are organized. Similarly, the study of individuals with highly idiosyncratic cognitive abilities can shed light on the outer limits of human cognition. One such phenomenon is calendar calculation (CC), the ability to identify the day of the week that corresponds to a given date or the dates that match a particular calendar configuration. CC is the most commonly reported « special ability » in autism and is unique in its accuracy and speed, often surpassing experienced mathematicians. Recent findings suggest that a significant proportion of autistic children with oral language delays first acquire and prefer the written code, which may help pave the way for oral language acquisition. This atypical pathway for language acquisition invites a rethinking of the mechanisms underlying CC. In this article, we propose an integrative model in which the development and mastery of CC in autism are driven by the orientation of the innate linguistic cognitive resources toward an equivalent complex symbolic system. This model offers a novel perspective on the language trajectories observed in autism, their role in facilitating expertise in nonsocial complex material, and the broader flexibility of human language-based abilities. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

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5. Donahue MM, Robson E, Marron AM, Fernandez EJ, Hill M, Mably AJ, Trimper JB, Brager DH, Colgin LL. CA2 neurons show abnormal responses to social stimuli in a rat model of Fragile X syndrome. bioRxiv. 2025.

Fragile X Syndrome (FXS) is a neurodevelopmental disorder that is highly comorbid with autism spectrum disorders and can cause abnormal social behaviors. The CA2 subregion of the hippocampus is essential for social memory processing and social recognition. A social interaction induces changes in CA2 neuronal firing; however, it is unknown whether these changes are impaired in FXS models. Here, we examined CA2 activity in a rat model of Fragile X Syndrome ( Fmr1 knockout rats). In Fmr1 knockout rats, we observed impaired CA2 cell responses to social stimuli, despite similar social behaviors. Further, in CA2 of Fmr1 knockout rats, we found reduced expression of oxytocin receptors and impaired whole cell responses to oxytocin. Together, these results raise the possibility that abnormal CA2 activity contributes to impaired social behavior in FXS and may suggest novel treatment targets for FXS patients. SIGNIFICANCE STATEMENT: Fragile X Syndrome (FXS) is a neurodevelopmental disorder that can result in abnormal social behaviors, including social avoidance. Activity in the CA2 subregion of the hippocampus is believed to support social recognition and social cognition. Yet, the extent to which the CA2 subregion of the hippocampus is affected by FXS is poorly understood. In this study, we identified specific impairments in CA2 neuronal responses to social stimuli in a rat model of FXS. Further, we provide evidence suggesting that CA2 responses to oxytocin, a neuropeptide released during social interactions, are abnormal in FXS.

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6. Dwyer P, Williams ZJ, Lawson W, Rivera SM. A Trans-Diagnostic Investigation of Attention and Diverse Phenotypes of « Auditory Hyperreactivity » in Autism, ADHD, and the General Population. J Atten Disord. 2025: 10870547251361226.

OBJECTIVE: Experiences of « auditory hyper-reactivity » and decreased sound tolerance, which can be separated into phenotypes such as hyperacusis and misophonia, are prevalent in autism and ADHD and impact quality of life and wellbeing. Furthermore, atypical patterns of attention regulations-including hyper-focus and inattention-are common in both autism and ADHD. Prior research also suggests sensory hyper-reactivity can cause anxiety, and anxiety can be associated with hyper-vigilance. It is currently unclear whether hyper-focusing on stimuli, having one’s attention captured by them, or being hyper-vigilant toward them could lead to sensory hyper-reactivity. Therefore, this study investigates relationships among hyper-focus, inattention, hyper-vigilance, auditory hyper-reactivity, and anxiety. METHOD: Four hundred ninety-two adults (122 ADHD-only, 130 autistic-only, 141 autistic + ADHD, and 99 comparison) completed questionnaires indexing hyper-focus, inattention, and various forms of auditory hyper-reactivity; participants also completed a psychoacoustic measure by rating the pleasantness of misophonic trigger sounds. RESULT: Per questionnaires, auditory hyper-reactivity was markedly elevated in both autistic and ADHD participants relative to comparison participants (.46 ≤ Cliff’s δ ≤ .84), whereas differences between autism and ADHD alone were small (.05 ≤ |Cliff’s δ| ≤ .21) and not consistent in sensitivity analyses. Path analysis suggested hyper-vigilance, hyper-focus, and inattention were related to auditory hyper-reactivity, which was related to anxiety, which was related to hyper-vigilance, potentially reflecting a cyclic relationship. However, psychoacoustic misophonia was only modestly related to self-reported misophonia scores (.22 ≤ Spearman’s ρ ≤ .31), and contributed little to the auditory hyper-reactivity composite included in the path analysis. CONCLUSION: These findings generally support the idea that attention may be connected to many neurodivergent people’s auditory hyper-reactivity, but also emphasize the need for improved measurement of sensory experiences.

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7. Falkenberg AL, Levano SR, Lemberg M, Fiori KP, Seijo R, Valicenti-Mcdermott M. Developmental Disabilities Are Associated with Higher Unmet Social Needs in Children. J Pediatr. 2025: 114809.

OBJECTIVE: To compare the likelihood of self-reporting at least one health-related social need (HRSN) for pediatric patients with developmental disabilities (DD) compared with pediatric primary care (PC) patients. STUDY DESIGN: This cross-sectional study was conducted in a large urban health system in the Bronx, New York, between May 2023 and August 2024. We identified a cohort of patients <21 years old with DD (N=1,420), at an urban center that specializes in serving children with DD, who completed a standardized HRSN screener to assess housing insecurity, housing quality, utility needs, food insecurity, healthcare transportation needs, healthcare cost needs, child or adult care needs, and legal needs. We also identified a cohort of pediatric PC patients who completed the HRSN screener at 1 of 14 outpatient PC practices (N=32,143). We completed a retrospective analysis using electronic health record data. Multivariable logistic regressions were conducted to estimate the likelihood of self-reporting at least 1 HRSN in regard to a patient's DD status, while adjusting for sociodemographic characteristics. RESULTS: Approximately 30.0% (n= 426) of DD patients self-reported at least 1 HRSN compared with 12.6% (n=4,064) of PC patients. In the multivariable analysis, DD patients demonstrated 2.49 (2.20, 2.82) greater odds of having at least 1 HRSN compared with PC patients. CONCLUSIONS: Health systems should consider developing workflows that identify and address HRSNs for pediatric patients with DD. Further research is needed to understand the factors contributing to the increased HRSN prevalence observed in patients with DD.

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8. Guiotto A, Vallese A, Cordone V, Cervellati F, Benedusi M, Hayek J, Pecorelli A, Valacchi G. Lipid peroxidation-induced cell death in Rett syndrome. Free Radic Biol Med. 2025.

Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting girls (1:10,000 live births), largely caused by mutations in the X-linked gene MECP2, an epigenetic regulator encoding for the methyl-CpG binding protein 2 (MeCP2). Recent evidence links ferroptosis, an iron-dependent cell death characterized by lipid peroxide accumulation, to neurodegenerative and neurodevelopmental disorders like autism. Several RTT hallmarks, including redox imbalance, excess labile iron, increased lipid peroxidation, and impaired antioxidant enzyme activity, align with ferroptosis characteristics. Therefore, we investigated ferroptosis’s role in RTT using human primary fibroblasts from healthy and RTT subjects, treating them with ferroptosis inducers: erastin and RSL3. Our findings show RTT cells are highly susceptible to ferroptosis, marked by elevated lipid peroxidation and mitochondrial reactive oxygen species (mtROS) production, crucial for ferroptotic cell death. We also observed altered iron metabolism and dysregulated ferritinophagy. RTT fibroblasts exhibited an imbalanced antioxidant defense, particularly after ferroptotic stimuli, and ferroptosis inducers worsened redox imbalance compared to controls. Importantly, a ferroptosis inhibitor (Ferrostatin-1) and a SOD mimetic (mito-TEMPO) prevented these effects and normalized the altered basal conditions of RTT cells. In conclusion, our results reveal a general dysregulation in RTT cells contributing to increased ferroptosis sensitivity. This suggests a significant role for ferroptosis in RTT pathophysiology and progression, potentially opening new therapeutic avenues for this condition.

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9. Jones G, Helsley S, Fox R, Tumminello A, Grasso A, Potter AM, Wynarczuk K, Reinson C. Parent Perspectives: Menstruation and Menstrual Hygiene Management for Autistic Daughters. Am J Occup Ther. 2025; 79(6).

IMPORTANCE: Parents of autistic daughters may be able to provide insight into how to address menstruation and menstrual hygiene management from their lived experiences. Menstrual hygiene management is considered an activity of daily living that is within the scope of occupational therapy practice. OBJECTIVE: To investigate the perspectives of parents of autistic daughters and their firsthand experiences of menstruation and menstrual hygiene management. DESIGN: This was a qualitative, phenomenological study that used convenience and snowball sampling and an inductive thematic analysis of transcripts of virtual semistructured interviews. Trustworthiness was established through audit trails, member checking, and the use of an interview guide. SETTING: Interviews were conducted through Zoom at the participants’ preferred time and location. PARTICIPANTS: Parents of autistic daughters (N = 8): seven biological mothers and one adoptive father. RESULTS: Seven themes emerged from the interviews: (1) inadequate expertise in women’s health for autistic individuals among medical professionals, (2) parental dependency, (3) intensified sensory experiences before and during menstruation, (4) limited menstrual awareness and understanding in individuals with ASD, (5) menstrual product preferences, (6) parental feelings about managing menstruation, and (7) strategies that worked for managing menstruation. CONCLUSIONS AND RELEVANCE: The findings suggest that parents face significant challenges when caring for autistic daughters during their menstrual cycles. Occupational therapy practitioners may support autistic individuals as well as their parents and caregivers in this process by having a deeper understanding of their experiences. Plain-Language Summary: This study sheds light on the perspectives of parents of autistic daughters on the topic of menstruation and menstrual hygiene management, which are considered activities of daily living. Occupational therapy practitioners may gain knowledge from these firsthand perspectives to inform future occupational therapy practice. Menstruation and menstrual hygiene management are important activities of daily living that are not addressed well for individuals living with autism. Occupational therapy practitioners can support autistic individuals and their caregivers in improving the participation and performance in menstruation and menstrual hygiene management.

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10. Keles G, Rajakumar A, Wilson CM. Paliperidone as an Alternative Treatment for Behavioral Symptoms in Childhood Autism: Case Report of an Eight-Year-Old Patient. Cureus. 2025; 17(8): e90262.

This case report discusses an eight-year-old boy diagnosed with autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and disruptive mood dysregulation disorder (DMDD), who required two separate psychiatric hospitalizations within a four-month period due to severe aggression and self-harming behaviors. The patient was initially admitted involuntarily under the Florida Mental Health Act of 1971 after exhibiting violent behavior toward family members and significant self-harm. During his first hospitalization, which lasted 25 days, he demonstrated a limited response to multiple combination interventions, including stimulants, α-agonists, and antipsychotics such as risperidone and olanzapine. Paliperidone, an atypical antipsychotic typically used in adolescents for schizophrenia, was titrated up to 3 mg/day, resulting in significant improvement in irritability and aggression with no immediate adverse effects. Four months after discharge, the patient was readmitted for similar behaviors, including aggression toward teachers and renewed self-harm. Despite adherence to his prescribed medications during the interim period, his symptoms returned abruptly, one week prior to readmission. During this second hospitalization, lasting 16 days, the dose of paliperidone was increased to 3 mg twice daily, based on the Florida Best Practice Psychotherapeutic Medication Guidelines for Children and Adolescents, leading to rapid resolution of aggressive episodes. The patient tolerated the dosage adjustment without significant side effects, though weight gain remained a concern. This case highlights paliperidone’s potential utility in managing severe behavioral dysregulation in pediatric patients with ASD when first-line therapies fail. It also underscores the importance of careful monitoring for metabolic side effects in this vulnerable population. Further research is needed to establish age-specific dosing guidelines and long-term safety profiles for children under 12 years of age.

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11. Khan YS, Albobali Y, Amro A, Saini P, Nour L, Chandra P, Almeraisi MJ, Alabdulla M. Evaluating a specialized autism spectrum disorder clinic in Qatar: A multidisciplinary model for comprehensive assessment and diagnosis. Res Dev Disabil. 2025; 165: 105109.

An accurate diagnosis of autism spectrum disorder (ASD) can be complex due to the high degree of phenotypical variation and the necessity to integrate information from multiple assessments by various professionals. This paper examines the implementation and effectiveness of a specialized Autism ASD Assessment Clinic within the Child and Adolescent Mental Health Service (CAMHS). The clinic addresses a critical service gap in the Middle East and North Africa (MENA) region by offering structured, comprehensive evaluations for ASD using a multidisciplinary team (MDT) model, aiming to provide comprehensive and standardized assessments for children and adolescents aged 6-17 years suspected of having ASD. The methodology involved obtaining feedback from parents/caregivers through a Likert-scale questionnaire following the completion of the assessment for children and adolescents referred to the clinic between January 2022 and December 2024. Out of 48 families who attended the appointments and completed the assessment, 27 parents/caregivers completed the feedback. High satisfaction rates with the assessment’s thoroughness, professionalism of the MDT, and clarity of feedback were observed. A statistically significant inverse correlation was found between a child’s age and parental satisfaction with assessment thoroughness and clarity of feedback, suggesting higher satisfaction among parents of younger children. The findings highlight the clinic’s effectiveness in delivering quality care, improving early support for diagnosed individuals, and providing enhanced experience to families.

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12. Liu YC, Zhu DL, Hong XR, Zhou HY. [A qualitative study of sensory hypersensitivity in children with autism spectrum disorder and individuals with subclinical autistic traits]. Zhongguo Dang Dai Er Ke Za Zhi. 2025; 27(9): 1082-8.

OBJECTIVES: To explore the manifestations of sensory hypersensitivity in children with autism spectrum disorder (ASD) and individuals with subclinical autistic traits. METHODS: From September 2021 to April 2023, interviews were conducted on 18 college students with high levels of autistic traits and sensory hypersensitivity selected using the Adolescent/Adult Sensory Profile and the Autism Spectrum Quotient (as subclinical group). Interviews were also conducted on the parents of 11 children with ASD aged 6-13 years selected using the intensity sampling method (as clinical group). Qualitative content analysis and thematic analysis were performed on the interview texts to investigate the scenarios and impact of sensory hypersensitivity and coping strategies in the two groups. RESULTS: The Autism Spectrum Quotient score was significantly positively correlated with sensory hypersensitivity (r=0.504, P<0.001; n=225). Sensory modalities that triggered sensitive reactions were similar in the subclinical and clinical groups, with auditory hypersensitivity being the most prominent. Sensory hypersensitivity had significant negative impact on emotional wellbeing, cognitive ability, physical health, interpersonal relationships, and general adaptive functioning. These dimensions were interconnected, culminating in a holistic experience. Avoidance was the most commonly used coping mechanism for both groups (16 subclinical participants mentioned it 44 times; 8 clinical participants mentioned it 40 times). The clinical group required more support and help from their caregivers (18 times), while the subclinical group used more proactive coping strategies (e.g., facing sensitive scenarios, distracting attention) to alleviate the negative impact (51 times). CONCLUSIONS: Sensory hypersensitivity is a common manifestation across the broad ASD phenotype, posing negative effects on multiple aspects of their lives. There is an urgent need for social tolerance and acceptance as well as the development of effective intervention measures.

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13. MacDuffie KE, Washington AM, Burrows CA, Dager SR, Elison JT, Estes AM, Grzadzinski R, Lee CM, Piven J, Shen MD, Wilfond BS, Wolff J, Zwaigenbaum L, Pruett JR. « Now I have to act on that »: Parent anticipation of a therapeutic odyssey following predictive testing for autism. Res Sq. 2025.

Background Brain-based tools are being developed to identify infants at ultra-high likelihood for developing autism and enable presymptomatic intervention, though such interventions are not yet clinically available. Given persistent challenges in accessing autism services, we sought to understand how families might use early predictive results to seek support. Methods We analyzed 55 interviews with parents of infants aged 6-13 months; one group had experience parenting an older autistic child (n = 30), the other had no prior autism parenting experience (n = 25). All parents were asked what steps they would take if told their infant was likely to develop autism. Results Both groups described an intent to find appropriate services; parents with prior autism experience provided more specifics based on prior knowledge. The groups diverged in their anticipated supports and information sources. Parents with autism experience anticipated seeking financial support via insurance and disability benefits; those without autism experience reported they would consult their pediatrician for information or search online. Limitations: This qualitative study was conducted with a sample of parents selected for their specific life experiences, but likely does not capture the full range of potential responses to biomarker testing in infancy. Conclusions Given that most services and benefits require a formal diagnosis, families receiving predictive results in infancy will likely face challenges finding appropriate services. Prior to implementing predictive testing in the first year of life, researchers should consider their obligation to support families who receive predictive results.

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14. Noone A, Dowling K, O’Boyle D, Carter M, Golubeva AV, Scaife C, Bech BH, Henriksen TB, Gallagher L, Mooney C, Khashan AS, Murray DM, English JA. Longitudinal multi-omics analysis of umbilical cord blood and childhood serum in Autism. Mol Psychiatry. 2025.

There is considerable evidence implicating maternal immune activation (MIA) and cytokine dysregulation in the pathophysiology of Autism. However, cytokines, due to their lack of specificity are unlikely to translate clinically as prognostic biomarkers. Our aim was to explore the perinatal molecular pathways dysregulated in umbilical cord blood, which precede a diagnosis of childhood Autism, and ascertain whether these putative biomarkers persisted into pre-pubertal childhood. In a cohort of 2137 mother-infant dyads, we conducted a nested case-control study in the BASELINE Birth Cohort. Proteomic and metabolomic analysis was performed on cord blood plasma from 22 children diagnosed with Autism before age 5, and 44 neurotypical controls. In a clinical diagnostic follow-up between 7-10 years in the PiRAMiD Cohort, 24 children with Autism and 48 controls provided blood samples for molecular profiling. In cord blood, proteomics revealed altered glycolysis, selenium metabolism, oxygen transport, and complement signalling. Alterations in these protein pathways persisted into childhood, and dysregulation of GAPDH, SELENBP1, and BLVRB proteins were evident in both cord blood and in serum from pre-pubertal children with Autism. In cord blood, metabolomics analysis indicated Autism outcome was associated with reduced levels of circulating steroids and increased sulfate. We confirmed androstenedione was reduced in cord blood, in Autism cases in comparison to controls, however changes in androstenedione levels were not evident in serum from pre-pubertal children with Autism. Our findings were further corroborated using machine learning approaches, with an AUROC ranging from 0.82 to 0.85 for proteomic and metabolomic cord blood prediction models, respectively. Collectively, these findings confirm a cord blood molecular signature precedes the onset of Autism and has the potential to lead to prognostic biomarkers. Our integrative multi-omics analysis reveals materno-feto-placental molecular processes which potentially underpin Autism aetiology.

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15. O’Shea RT, Priebe NJ, Brager DH. Impaired thalamic burst firing in fragile X syndrome. Cell Rep. 2025; 44(10): 116309.

The thalamus performs a critical role in sensory processing by gating the flow of sensory information to the neocortex and directing sensory-guided behaviors, functions that are disrupted in people with autism spectrum disorder (ASD). We have identified cellular changes in thalamic neurons in a mouse model of fragile X syndrome (FX) that alter how the thalamus transmits sensory information to neocortical circuits. In awake wild-type (WT) mice, thalamic neurons shift between two firing modes, burst and tonic, which may gate input to the neocortex. Thalamic neurons in FX mice, however, do not shift between these modes and instead fire primarily in the tonic mode. Voltage-clamp recordings reveal that macroscopic Ca(2+) currents are significantly smaller at hyperpolarized membrane potentials in FX LGN neurons compared to those of the WT. In agreement with the voltage-clamp results, we demonstrate that the Ca(2+)-dependent low-threshold spike, which underlies normal bursting, is reduced or absent at membrane potentials at or around the resting membrane potential.

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16. Shams H, Nawaz I, Bashir S, Shahzadi B, Abualait T, Khan H, Hussain SA, Kiyani MM. Evaluating the Effectiveness of Structured Oral Language Therapy on Expressive Language in Preschool Children with Autism Spectrum Disorder. Neuropsychiatr Dis Treat. 2025; 21: 2083-93.

BACKGROUND: Autism spectrum disorder (ASD) comprises multiple mental and behavioural variations that mostly appear in early stage of life and effects persistently to all life. Establishing oral language plays an important role in expressive language, with a strong link to understanding reading and writing of ASD children. METHODS: The study employed a quasi-experimental design to assess the impact of structured oral language activities on expressive language skills in ASD children. Nineteen participants, aged 3-5 years, engaged in activities such as mealtime conversations, morning discussions, storybook reading aloud and rhymes over an 8-week period. Pre-testing established baseline measures, and outcomes were assessed through the quantity and quality of expressive language exhibited across these activities. RESULTS: The highest number of participants were 4 years of age and the majority were male participants (78.9%). The result indicated that the mean ± standard deviation of the pre-test and post-test of expressive language skill was 0.263 ± 0.452 with a p-value of 0.021 ≤ 0.05 level of confidence, with the most significant gains observed in morning conservations (p = 0.001) and reading aloud (p < 0.001). An increase in both the quantity and complexity of expressive language was observed across all activities. Significant differences can be seen in the amount and type of expressive language in activities related to morning conversation and reading aloud. Children expressed an increase in learning of numbers of words used specifically nouns, verbs and adjectives, with an improvement in the expression of vocabulary. CONCLUSION: There was a significant difference in the expressive language of ASD children receiving structured oral language representing facilitation in language development in ASD children.

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17. Talukdar M, Page DC. The inactive X chromosome as a female protector in autism and beyond. Res Sq. 2025.

Why do human females require more autosomal genetic risk to manifest autism compared to males? Why is this also true of other male-biased, childhood-onset conditions with substantial autosomal heritability? Here we propose that the higher female liability threshold for these disorders arises due to gene expression from the human inactive X chromosome (Xi), which buffers the effects of deleterious autosomal variants. In contrast, we posit that gene expression from the Y chromosome is less effective than Xi at mitigating the consequences of such pathogenic autosomal alleles, contributing to the lower liability threshold observed in males. This framework unites epidemiological, genetic, and mechanistic observations across autism. Moreover, via a systematic review of 101 published genetic studies of male-biased conditions, we identify 16 other childhood disorders that empirically demonstrate an FPE – suggesting that Xi’s genetic activity throughout the body enables females to better tolerate autosomal genetic risk for a panoply of pediatric conditions. If correct, this reshapes our understanding of sex differences in disease and highlights the roles of Xi and the Y chromosome in mitigating or enhancing the effects of autosomally mediated liability.

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18. Villavicencio-Tejo F, Olesen MA, Leonardo Moya M, Quintanilla RA. Disentangling the role of tau pathology in autism spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry. 2025: 111496.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficient social interaction, altered communication, and repetitive, stereotyped behaviors. Pathologically, ASD is characterized by abnormal brain development, including dendritic spine and axonal alterations, which are both associated with synaptic plasticity disturbances. Microtubules (MT) and microtubule-associated proteins (MAPs) are critical in regulating brain development by the neuronal cytoskeleton and synaptic formation. Tau is a neuronal MAP protein in which pathological posttranslational modifications (PTMs) are involved in the pathogenesis of neurodegenerative diseases (NDs), including Alzheimer’s disease (AD). In this context, accumulative evidence suggests that tau is altered in mouse models and human patients of ASD. Toxic tau modifications like hyperphosphorylation, a disruptor of MTs dynamics, produced alterations in ASD, suggesting that the imbalance of this protein may contribute to neurodevelopmental deficiencies produced during ASD. In this systematic review, we revised essential evidence suggesting that the dysregulation of cytoskeletal components produced by tau pathology could play a crucial role in the pathological and behavioral changes produced in ASD. Finally, we will focus on discussing how the presence of tau pathology in ASD contributes to brain development impairment and whether pathological forms of tau could be suggested as a novel biomedical strategy to support the diagnosis of this disorder.

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19. Wen H, Zeng X, Liu X, Chen Z, Ma B. « Let’s Try to Stay on Track »: Exploring Therapists’ Responses to Digressive Utterances of Children with ASD. Psychol Res Behav Manag. 2025; 18: 1969-92.

PURPOSE: Autistic children’s digressive utterances can disrupt therapeutic progress, yet remain understudied in China. This study investigates how Chinese therapists respond to such digressions during Naturalistic Intervention (NI) sessions, specifically exploring how they navigate the tension between structured therapeutic goals and spontaneous interactions while adapting evidence-based practices (EBPs) to individual child profiles and sociocultural contexts. PARTICIPANTS AND METHODS: Applying discourse analysis (DA), we analyzed 19 NI sessions involving five Board Certified Behavior Analysts (BCBAs; ≥2 years of experience; trained in NI) and ten Chinese autistic boys (aged 29-78 months; Level 1 ASD). Therapists delivered tailored NI sessions (4-30 hours/week), embedding communication goals within play-based routines. Sessions were video-recorded in therapeutic settings. RESULTS: Therapists employed seven distinct response practices spanning a directive-to-elicitory continuum. Immediate refocusing practices (restatement with nonverbal cues, digression-termination before refocusing, and integration) prioritized task adherence but risked further disengagement. Delayed refocusing practices (minimal acknowledgment before refocusing, accommodation before refocusing, and following the child’s lead before refocusing) validated children’s agency and elicited higher rates of goal-aligned responses. Digression-following practices fostered spontaneity but risked further divergence. Notably, accommodation and following the child’s lead before refocusing elicited the most contingent responses, while abrupt termination often provoked resistance. Senior therapists employed more diverse practices while favoring delayed refocusing practices, whereas juniors favored immediate refocusing practices. Practice selection was influenced by digression sub-focus, therapist experience, child characteristics, and sociocultural contexts. CONCLUSION: Findings reframe digressions as agentic bids necessitating mutual adaptation, aligning with « the double empathy problem ». As the first DA study of therapist responses to digressions in China, this study underscores the clinical importance of culturally attuned flexibility for validating autistic agency while maintaining therapeutic progress. Based on the research findings, therapist training should emphasize reflective, context-responsive practices to enhance engagement across cultures.

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20. Wenzell ML, Pulver SL, Scahill L, Davidson T, Rajagopal S, Gillespie S, Huang T, Griggs S, Roark C, Patil M, Patel M, Sharp WG. Clinical Correlates of Insomnia Symptoms in Young Children with Autism Spectrum Disorder. J Pediatr. 2025: 114812.

OBJECTIVE: To examine clinical correlates of insomnia symptoms in children with autism spectrum disorder (ASD) ascertained from a general outpatient autism clinic. STUDY DESIGN: This analysis included 103 children with ASD (mean age=5.8+2.2 years; range 2-10, 77.7% male). A multidisciplinary team assessed medical and psychosocial histories using parent ratings from the Pediatric Autism Insomnia Rating Scale (PAIRS), Aberrant Behavior Checklist (ABC), Brief Autism Mealtime Behavior Inventory (BAMBI), and the PedsQL and Family Functioning Surveys. Height and weight were collected. Children in the current sample with scores on the PAIRS > 22 were compared with those with a mean PAIRS score < 22. Univariable and multivariable logistic regression modeling was used to evaluate clinical correlates with insomnia symptoms > 22. Best subset selection approach identified the most important predictors. RESULTS: The PAIRS mean was 18.39 + 14.54 (range 0 to 58); 33% scored > 22. After adjusting for confounders, disruptive mealtime behaviors (p < .001), parent HRQoL and family functioning (p<.001 to .001), ABC subscales (p<.001 to .022), and dietary supplements (p=.019) were significantly associated with PAIRS > 22. There were no group differences in height, weight, constipation, or demographics. Best subset modeling showed ABC Hyperactivity/Noncompliance, dietary supplements, and mealtime behaviors as the most significant predictors (ROC = 0.842, χ(2)(df) = 32.84 (3), χ(2)Diff. = 4.80, p<0.001). CONCLUSIONS: The PAIRS appears useful for characterizing the nature and severity of current insomnia symptoms in autistic children.

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21. Wu R, Teng X, Guo Y, Cai Y, Lv Y, Gao H, Zhang W, Shen H, Fan J. Gut microbiota characteristics and therapeutic effects of fecal microbiota transplantation in children with autism spectrum disorder in central China: a combined cross-sectional and prospective study. Front Pediatr. 2025; 13: 1648471.

INTRODUCTION: Gut microbiota dysbiosis is implicated in autism spectrum disorder (ASD), yet scalable therapeutic interventions remain limited. This study investigated gut dysbiosis profiles in children with ASD and evaluated the clinical efficacy of a simplified fecal microbiota transplantation (FMT) protocol using pediatric donors. METHODS: In a cross-sectional phase, 48 children with ASD and 51 age-/sex-matched healthy controls underwent gut microbiota analysis. Subsequently, 25 ASD participants received FMT via a streamlined protocol: 3-day bowel preparation followed by 6-day transcolonoscopic microbiota infusion from pediatric donors. Clinical outcomes and microbiota shifts were assessed at 3-month follow-up. RESULTS: (1) Baseline Dysbiosis: ASD subjects exhibited reduced microbial diversity, with decreased Faecalibacterium and Bifidobacterium but elevated Megamonas and Akkermansia vs. controls. (2) Clinical Efficacy: Post-FMT, significant improvements occurred in core ASD symptoms and gastrointestinal comorbidities. (3) Microbiota Shifts: FMT recipients showed increased beneficial genera (Prevotella, Faecalibacterium, Agathobacter, Dorea) and reduced Escherichia-Shigella. DISCUSSION: A simplified pediatric donor FMT protocol effectively modulates gut microbiota composition and alleviates both behavioral and gastrointestinal symptoms in children with ASD. This strategy demonstrates feasibility for clinical translation, highlighting microbiota-targeted therapy as a promising intervention for ASD.

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22. Zhu BQ, Chen SJ, Gu TM, Jin SR, Yao D, Zheng SS, Shao J. [The causal association between circulating zinc, magnesium, and other minerals with autism spectrum disorder: a Mendelian randomization study]. Zhongguo Dang Dai Er Ke Za Zhi. 2025; 27(9): 1098-104.

OBJECTIVES: To evaluate the causal association between circulating levels of zinc, magnesium, and other minerals and autism spectrum disorder (ASD). METHODS: A two-sample Mendelian randomization (MR) analysis was performed using summary statistics from large-scale genome-wide association studies of European populations, including 18 382 ASD cases and 27 969 controls. Genetic data for iron, calcium, and magnesium were obtained from the UK Biobank, and data for zinc and selenium were sourced from an Australian-British cohort. A total of 351 genetic instrumental variables were selected. Causal inference was performed using inverse-variance weighting as the primary analysis method. Sensitivity analyses were performed by Cochran’s Q test and MR-PRESSO global test to assess the robustness of the findings. RESULTS: No statistically significant causal effect was observed for circulating zinc, magnesium, calcium, selenium, or iron levels on ASD risk (all P>0.05). The odds ratios and 95% confidence intervals from the inverse-variance weighting analysis were 0.934 (0.869-1.003) for zinc, 1.315 (0.971-1.850) for magnesium, 1.055 (0.960-1.159) for calcium, 1.015 (0.953-1.080) for selenium, and 0.946 (0.687-1.303) for iron. Sensitivity analysis revealed significant heterogeneity in the causal association between circulating calcium and ASD (P=0.006), while the effect estimate remained stable after MR-PRESSO correction (P=0.487). The causal effect estimates for the remaining minerals demonstrated good robustness. CONCLUSIONS: This study did not find significant evidence supporting a causal association between circulating zinc, magnesium, calcium, selenium, or iron levels and ASD risk, providing important clues for the etiology of ASD and precision nutritional interventions.

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23. Zorzi S, Tambato VM, Berteotti L. Promoting adaptive and social communication skills in young adults with autism spectrum disorder using programmable toy robots with social story, a pilot study. Disabil Rehabil Assist Technol. 2025: 1-19.

BACKGROUND: In the last decade, the advances in technology have included robotics as an intervention tool to promote adaptive and social communication skills in subjects with Autism spectrum disorder. The goal of this study is to promote community living skills in adolescents with ASD, using a Programmable toy robot as a model and narrative agent of a social story related to the target activity. METHOD: The study was conducted in an Italian public Social Health Service for adolescents with Neurodevelopmental disorder and included four adolescents with severe Autism spectrum disorder. The experiment concerned the application of the Lego Boots programmable toy robot as a model used for the interpretation of a social story related to the execution of a life activity in the community (making a purchase). RESULTS: A multiple A-B-A baseline experimental design across subjects was used. All participants reached the target criteria: at least 80% of the total behaviors and 100% of social communication behaviors of the purchase activity identified through the task analysis procedure. CONCLUSION: Our results have confirmed the effectiveness of programmable toy robots modeling for teaching community living skills to adolescents with autism. They support the idea that robot-assisted intervention can combine social story with the modeling standard treatment to improve adaptive and social communication skills. Clinical Implementation and Service Delivery: Programmable Toy Robots represent a cost-effective assistive technology tool that rehabilitation professionals can integrate into existing autism intervention programs. The structured 3-phase approach (robot demonstration → guided practice → independent performance) can be delivered through a hybrid model combining clinic-based sessions with community-based practice. Implementation requires 8-16 hours of training in robot programming, task analysis, and systematic prompting procedures, making it accessible to existing rehabilitation personnel.Economic Viability and Accessibility: The relatively low cost of PTR technology (€300-400 per system) compared to specialized social robots (€10,000+) makes this intervention economically viable for public rehabilitation services. The durability and reusability across multiple clients enhances cost-effectiveness while potentially reducing direct therapist time compared to traditional one-to-one social skills training.ICF Framework Integration: This intervention directly addresses multiple ICF domains including enhanced social communication functions (d350), acquisition of community living skills (d6xx series), increased community participation (d920), and serves as an assistive product (e1251) that reduces environmental barriers to learning.Future Development and Scalability: The methodology provides a foundation for comprehensive technology-enhanced rehabilitation programs that can be expanded to other community skills (transportation, banking, healthcare navigation) and adapted for different populations, supporting the development of standardized, evidence-based assistive technology protocols across rehabilitation networks. eng.

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