Pubmed du 01/12/25
1. Akalin H, Bilgic B, Avcil S, Orenay-Boyacioglu S. Low Expression Levels of MAOA and TPH1 Genes May Represent Risk Factors in Boys With Autism Spectrum Disorder-A Case-Control Study. Int J Dev Neurosci. 2025; 85(8): e70073.
INTRODUCTION: It has been reported that disruptions in the metabolic pathways of tryptophan, the precursor of the neurotransmitter serotonin, may contribute to the development of autism spectrum disorder (ASD); however, further research is needed. Therefore, this study aims to assess the gene expression levels of two key enzymes involved in tryptophan metabolism, monoamine oxidase A (MAOA) and tryptophan hydroxylase-1 (TPH1), in male children diagnosed with ASD, and to explore their relationship with autism severity. METHODS: For this purpose, 30 male children diagnosed with ASD according to the DSM-5 diagnostic criteria, who presented to the Institutional Child and Adolescent Psychiatry outpatient clinic, and 30 male children who presented to the same clinic with no psychiatric disorders detected were recruited as the control group. The subjects were administered the Childhood Autism Rating Scale. The expressions of MAOA and TPH1 genes were determined using Quantitative Real-Time PCR. RESULTS: The expression levels of MAOA and TPH1 genes were significantly reduced in the patient group compared to the control group (p = 0.017 and 0.000, respectively). No statistically significant results were obtained between autism severity and the expression levels of these genes within the patient group (p > 0.05). CONCLUSION: This study is the first to investigate and establish a correlation between the expression levels of the MAOA and TPH1 genes and ASD using human blood samples. Low MAOA and TPH1 gene expression levels, may contribute to serotonergic dysregulation potentially acting as risk factors involved in ASD.
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2. Bassiony H, Baiomy A, Ahmed D, Elaraby NM, Ammar THA, Ashaat EA. Association between GRIK1 rs363598 and intergenic rs360932 variants and susceptibility to autism spectrum disorders in Egyptian children. BMC Pediatr. 2025.
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3. Beauchamp MLH, Scorah J, Elsabbagh M. Supporting autistic adults with complex communication needs in making their voices heard: examining an adaptation of the Autism Voices framework. Front Hum Neurosci. 2025; 19: 1638595.
INTRODUCTION: Autistic adults with speech, language and/or cognitive challenges are often excluded from research, particularly from studies examining first-person perspectives, as these generally require that participants have strong speech, language, and cognitive skills. The current pilot study extends previous work and examines whether the Autism Voices framework can be adapted for use with a pre-existing interview the Camberwell Assessment of Need for Adults with Developmental and Intellectual Disabilities-Research version (CANDID-R). METHODS: Eleven young autistic adults with complex communication needs completed the CANDID-R interview using visual supports. These visual supports were provided to assist participants’ comprehension of interview questions and to support them in answering the interview questions. Participants’ caregivers also completed the interview and their answers to specific validation questions were compared to those of their adult children. Additionally, behavioral observations were also completed. RESULTS: The findings from this pilot study indicate that our adaptation of the Autism Voices framework was, at least partially successful in supporting participants in answering the interview questions. Additionally, behavioral observations indicate that the visual supports helped participants remain engaged throughout the interview. However, results also indicate that further adaptations, which we discuss, will be required. CONCLUSION: Autistic people with complex communication needs must be included in research about the lived experiences of autistic people. Building on previous work, we show that, with dedication and imagination, equitable and inclusive research is possible.
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4. Capawana MR. Psychosis, Posttraumatic Stress, and Suicidality Obscure Comorbid Autism Spectrum Disorder: A Report on Differential Diagnosis. Prim Care Companion CNS Disord. 2025; 27(6).
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5. Chatzigeorgiou C, Asgel Z, Avila MN, Mahjani B, Khachadourian V, Souaiaia T, Mullins N, Janecka M. Autism Heterogeneity Related to Preterm Birth: Multi-Ancestry Results From the Simons Foundation Powering Autism Research for Knowledge Sample. Biol Psychiatry Glob Open Sci. 2026; 6(1): 100614.
BACKGROUND: Autism spectrum disorder (ASD) shows significant clinical variability, likely due to a combination of genetic and environmental factors. Preterm birth is a known risk factor for ASD, occurring in approximately 13% of diagnosed individuals. While genetic factors contribute to preterm birth in the general population, the relationship between genetic variation, preterm birth, and ASD heterogeneity remains unclear. METHODS: We investigated the genetic factors associated with preterm birth in 31,947 autistic individuals using data from the SPARK (Simons Foundation Powering Autism Research for Knowledge) sample. We conducted 3 ancestry-specific genome-wide association studies for African/African American, admixed American, and non-Finnish European ancestries, followed by a meta-analysis of 3308 preterm cases and 28,639 controls using METAL. Functional mapping and gene-based analyses were performed using FUMA, and genetic correlations were estimated using LDSC and Popcorn. Polygenic risk scores (PRSs) were computed with BridgePRS, using PRS of preterm birth in the general population. RESULTS: Our study identified ancestry-specific genetic loci associated with preterm birth in ASD cases. Although the meta-analysis results were not statistically significant, the estimated single nucleotide polymorphism heritability was 14%, indicating a meaningful contribution of common genetic variants. Across ancestry groups, preterm birth status was not significantly associated with PRSs for any psychiatric or medical conditions analyzed. However, polygenic liability to preterm birth in the general population was linked to several congenital anomalies after multiple testing adjustments. CONCLUSIONS: These findings highlight the importance of diverse ancestries and early-life exposures in understanding ASD heterogeneity. Future research should replicate these findings in larger samples and explore rare variants associated with preterm birth to better understand the relationship between gestational duration and clinical and genetic differences in ASD. In this study, we investigated whether autistic individuals born preterm carry different genetic risks than those born full-term. Using a large and ancestrally diverse sample, we identified genetic signals associated with preterm birth that varied by ancestry. These findings emphasize the importance of including diverse populations in genetic studies and suggest that early-life factors may help explain some of the differences seen among individuals with autism. eng.
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6. Cho YJ, Kim E, Kim YS, Kim HH, Kim J, Shin B, Di Martino A, Leventhal BL. Impact of COVID-19 on Adaptive Skills and Psychiatric Symptoms in South Korean Children With Autism Spectrum Disorder. JAACAP Open. 2025; 3(4): 1118-28.
OBJECTIVE: We examine the effect of COVID-19 on South Korean children with autism spectrum disorder (ASD), using a comprehensive online caregiver survey. METHOD: Caregivers of 132 children were recruited among 292 children identified with ASD in a large general population epidemiologic cohort from a suburban South Korean city. Using the Korean translation of the CoRonavIruS Health Impact Survey, adapted for autism and related neurodevelopmental conditions (CRISIS-AFAR), data were collected at 3 time points (3 months before the pandemic, from January to June of 2021, and 3-4 months after). Changes in adaptive living skills, lower- and higher-order restrictive and repetitive behaviors (RRBs), co-occurring problem behaviors (activity/attention, oppositional, and anxiety/affect) were assessed over time. Characteristics of more vulnerable subgroups were identified. RESULTS: Among 132 children with ASD (81.1% boys, mean 12.6 ± 1.88 years of age), a significantly larger proportion maintained their initial level of adaptive living skills (43.9%), RRBs (39.4%-51.5%), and co-occurring problem behaviors (>75%) when compared with the proportion of children who worsened or fluctuated (p < .001). Less than 25% of the participants showed worsening in any domain from the first to second time point and from the second to third time point. Participants who demonstrated stability in activity/attention problem behaviors and lower-order RRBs had significantly better baseline physical health (p = .032) and higher intelligence, greater ability to attend general education, and milder language deficits (all p = .027). CONCLUSION: The majority of South Korean children with ASD demonstrated stability despite the lack of consistency or structure during the pandemic. A 2-year longitudinal follow-up study is underway. Caregivers of 132 South Korean children with autism rated their children's behaviors at 3 months before the pandemic began and at two timepoints during the height of the COVID-19 pandemic in 2021. A larger group of children maintained their initial levels of adaptive functioning, autism symptoms, and co-occurring behavioral problems. Fewer than 25% showed progressive worsening over time, highlighting the resilience of a majority of children with autism during this difficult period. The study also found that better physical health was protective against behavioral challenges, while children with more severe autism symptoms, or cognitive difficulties, needed additional support—especially in environments lacking consistency and structure. eng.
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7. de Wit MM, Morgan MJ, Libedinsky I, Austerberry C, Begeer S, Abdellaoui A, Ronald A, Polderman TJC. Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score. JAACAP Open. 2025; 3(4): 839-51.
OBJECTIVE: Genetic factors play a substantial role in the etiology of autism and its co-occurrence with other conditions and traits. The primary objective of this study was to clarify the associations between the autism polygenic score and autism diagnosis, autistic traits, and related behavioral and neurobiological traits. METHOD: Peer-reviewed studies written in English reporting univariate associations were included. PubMed, Web of Science, PsycINFO, and Scopus were systematically searched on November 2, 2022, and January 6, 2023. The quality of included studies was assessed using the QUIPS tool, systematic review with best-evidence synthesis was applied, and meta-analyses were performed if >5 studies were conducted on similar phenotypes. RESULTS: Of 72 eligible studies (pooled N = 720,087), 61 received high-quality ratings. Meta-analysis of 9 studies revealed strong evidence for an association between the autism polygenic score and autism diagnosis (meta-analytic r = 0.158 [95% CI 0.067-0.249]). The systematic review revealed strong evidence for an association with social behavior, depression, and motor skills and weak evidence for physical activity. Associations with other outcomes were inconclusive, and effect sizes were generally small (median r = 0.03). CONCLUSION: The autism polygenic score is consistently associated with autism diagnosis and a small number of co-occurring traits. Associations with many other traits and conditions are not significant. Due to its inconsistent associations and limited generalizability, it must be emphasized that the autism polygenic score does not have clinical utility and should be applied only for scientific purposes, with improvements needed for a deeper understanding of the polygenic underpinnings of autism. DIVERSITY & INCLUSION STATEMENT: One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented racial and/or ethnic groups in science. One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented sexual and/or gender groups in science. We actively worked to promote sex and gender balance in our author group. While citing references scientifically relevant for this work, we also actively worked to promote sex and gender balance in our reference list. The author list of this paper includes contributors from the location and/or community where the research was conducted who participated in the data collection, design, analysis, and/or interpretation of the work. STUDY REGISTRATION INFORMATION: The Association Between Polygenic Scores for Autism Spectrum Disorder and Autism Spectrum Disorder and Associated Traits: A Systematic Review and Meta-analysis; https://www.crd.york.ac.uk/PROSPERO/view/CRD42022307993. This systematic review examined how the autism genetic risk score is linked to autism diagnosis and related traits. The findings showed a consistent link between the autism genetic score and autism diagnosis, as well as some related traits like social behavior, depression, and motor skills, though most other associations were small or inconclusive. The results emphasize that while the autism polygenic score (PGS) provides important insights for research, it lacks clinical utility at this time. eng.
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8. Fok M, Brush CJ, Seah L, DeLucia EA, Scarpa A. Emotion Reactivity and Regulation in Autistic Adults: A Systematic Review Across RDoC Units of Analysis. Psychophysiology. 2025; 62(12): e70200.
Emotion reactivity and regulation are implicated in the experience of anxiety and depression by autistic adults, but their measurement has been hindered by reliance on subjective judgment. Biological measurement methods may improve insight by offering a perspective beyond self/other-report. Using PRISMA guidelines, this systematic review aimed to (1) clarify current emotion reactivity and regulation measurement practices used with autistic adults, and (2) summarize conclusions on the autistic adult experience, organized across Research Domain Criteria (RDoC) units of analysis (circuits, physiology, behavior, self-/caregiver-report). Of the 31 original peer-reviewed studies that met inclusion criteria, there were 41 different reports: 15 circuitry, 13 physiological, one behavioral, and 14 self-/caregiver-reports of emotion reactivity and/or regulation. Findings generally indicated reduced emotion reactivity and emotion regulation processes for autistic adults compared to non-autistic groups, but inconsistencies emerged depending upon the emotional paradigms, social stimuli, laboratory versus naturalistic setting, sample characteristics, or RDoC measurement tools used. Overall, study design heterogeneity has limited the ability to infer how emotion reactivity and regulation are measured and, therefore, impacted in autistic adults. Future studies should establish standard methods across multiple measurements, assess both positive and negative emotions, and include diverse racial/cultural backgrounds and ability levels. In conclusion, there remains a dearth of evidence using circuitry, physiological, and behavioral measures of emotion reactivity and regulation in autistic adults, thus limiting our understanding of these critical internal experiences and processes.
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9. Güleç A, Gerik-Celebi HB, Demiral M. Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder. Mol Syndromol. 2025; 16(6): 615-23.
INTRODUCTION: X-linked intellectual developmental disorder 99 (XLID99) is a rare neurodevelopmental disorder associated with mutations in the USP9X gene. This study reports on 3 patients diagnosed with autism spectrum disorder (ASD), highlighting novel genetic findings. CASE PRESENTATION: Among the 3 patients, two male siblings exhibited a novel USP9X gene missense variant, while the third, a female, presented a unique deletion of the USP9X gene alongside adrenal insufficiency and mosaic Turner syndrome. This variant has not been reported in public databases and may influence ASD development. CONCLUSION: This report documents the first instance of a triple diagnosis of XLID99, Turner syndrome, and congenital adrenal hyperplasia. Findings underline the significance of genetic evaluation in ASD for identifying rare and complex diagnoses.
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10. Hart Barnett JE. Video Modeling as a Scalable Strategy to Prepare Children With Autism for Dental Visits. Clin Pediatr (Phila). 2025: 99228251394202.
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11. Hasan Alhwaiti S. The effect of transcranial direct current stimulation (tPCS) on the neuropsychology of social functioning in children with autism spectrum disorder. Appl Neuropsychol Child. 2025: 1-6.
The aim was to investigate effect of transcranial direct current stimulation (tPCS) on the neuropsychology of social functioning in children with autism spectrum disorder. It was expected that children with ASD randomly assigned to the experimental tPCS condition would show improvements in the neuropsychology of social functioning compared to those in the sham group. This study was a multicenter, double-blind, sham-controlled, randomized trial conducted at eight center for autism in Mecca, KSA. A total of 60 participants (30 in the tPCS group and 30 in the sham group) completed 10 treatment sessions and were included in the analysis. Post-intervention, analysis of covariance (ANCOVA) was used to compare primary and secondary outcomes between the intervention and sham groups. As hypothesized the delivered tPCS had a pre-to-post intervention effect on the neuropsychology of social functioning in children with ASD. Specifically, children with ASD randomly assigned to the experimental tPCS condition showed improvements in the neuropsychology of social functioning compared to those in the sham group. Those children did not have significant changes in scores from pre-to-post intervention time points.
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12. Heinrich MJ, Bear MF. Cell-intrinsic mechanisms underlying spontaneous activity in the mouse visual cortical slice: implications for fragile X pathophysiology. J Neurophysiol. 2025.
In the Fmr1-knockout (KO) mouse model of fragile X syndrome (FXS), visual cortical slices exhibit enhanced persistent spiking following electrical stimulation in layer 5 (L5) when bathed with artificial cerebral spinal fluid (aCSF) emulating the ionic concentrations measured in vivo. This phenotype is of particular interest because it responds to several treatments that have been shown to correct a wide array of other disease phenotypes. However, the underlying mechanisms and physiological relevance of this hyperactivity phenotype are unknown in large part because of our incomplete understanding of the persistent spiking activity itself. In recordings from wild-type visual cortical slices, we find that extratelencephalic (ET) (but not intratelencephalic) L5 pyramidal neurons (PNs) are spontaneously active in physiological aCSF during pharmacological inhibition of ionotropic synaptic transmission. We show that this activity depends upon aCSF composition. Physiological divalent cation concentrations profoundly enhance the intrinsic excitability of ET L5 PNs in large part by altering the voltage-dependence of the persistent sodium current (I(NaP)). As a result, many ET PNs exhibit spontaneous, I(NaP)-mediated activity. We show that the excitability and spontaneous activity of Fmr1-KO ET PNs are unchanged relative to WTs, indicating that the unstimulated Fmr1-KO L5 circuit is not spontaneously hyperactive in the absence of external input.
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13. Huang TN, Lin MH, Hsu TT, Yu CH, Hsueh YP. Low-dose mixtures of dietary nutrients ameliorate behavioral deficits in multiple mouse models of autism. PLoS Biol. 2025; 23(12): e3003231.
Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined neurodevelopmental conditions influenced by both genetic and environmental factors. Here, we show that supplementation of multiple low-dose nutrients-an important environmental factor contributing to ASD-can modulate synaptic proteomes, reconfigure neural ensembles, and improve social behaviors in mice. First, we used Tbr1+/- mice, a well-established model of ASD, to investigate the effect of nutrient cocktails containing zinc, branched-chain amino acids (BCAA), and serine, all of which are known to regulate synapse formation and activity. Supplementation of nutrient cocktails for 7 days altered total proteomes by increasing synapse-related proteins. Our results further reveal that Tbr1 haploinsufficiency promotes hyperactivation and hyperconnectivity of basolateral amygdala (BLA) neurons, enhancing the activity correlation between individual neurons and their corresponding ensembles. Nutrient supplementation normalized the activity and connectivity of the BLA neurons in Tbr1+/- mice during social interactions. We further show that although a low dose of individual nutrients did not alter social behaviors, treatment with supplement mixtures containing low-dose individual nutrients improved social behaviors and associative memory of Tbr1+/- mice, implying a synergistic effect of combining low-dose zinc, BCAA, and serine. Moreover, the supplement cocktails also improved social behaviors in Nf1+/- and Cttnbp2+/M120I mice, two additional ASD mouse models. Thus, our findings reveal aberrant neural connectivity in the BLA of Tbr1+/- mice and indicate that dietary supplementation with zinc, BCAA, and/or serine offers a safe and accessible approach to mitigate neural connectivity and social behaviors across multiple ASD models.
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14. Hurtado LM, Rossetti Z, Maring J. Assessing Well-Being, Caregiver Burden and Support in Sibling Caregivers of Individuals With Intellectual and Developmental Disabilities. J Appl Res Intellect Disabil. 2025; 38(6): e70154.
BACKGROUND: This study aimed to understand the well-being, caregiver burden and support of sibling caregivers of individuals with intellectual and developmental disabilities. METHOD: This survey study gathered insights from adult sibling caregivers about their well-being, caregiver burden and sources of support. Demographic information was collected. Self-reported well-being measures were assessed. A descriptive analysis of the quantitative data was conducted. Qualitative data was analysed thematically. Differences and associations in scores related to income level were explored. RESULTS: Sibling caregivers reported taking care of their well-being but report high caregiver burden. As caregiver burden increases, well-being decreases (p = 0.001). Siblings with higher income report a significantly higher sense of well-being (p = 0.033). Qualitative responses highlight the need for sibling caregiver support. CONCLUSION: The findings indicate relatively high caregiver burden and the importance of support for sibling caregivers. Future research is warranted focused on strategies to lessen caregiver burden and increase sibling well-being.
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15. Ihara D. [Neuronal Plasticity-related Mechanisms Triggered by the Transcriptional Coactivator MRTFB, a Regulator for Neuronal Morphology and Gene Expression]. Yakugaku Zasshi. 2025; 145(12): 931-6.
Synaptic plasticity is a key mechanism underlying long-term memory and learning, with proposed associations with altered actin cytoskeleton and gene expression in neurons. Myocardin-related transcription factor (MRTF) family members, abundantly expressed in the brain, have actin-binding motifs at the N-terminus and act as cofactors of serum response factor (SRF). Rho signaling may promote MRTF’s release from G-actin and subsequent translocation into the nucleus, and increases SRF-dependent gene expression. MRTF is therefore thought to act as a link between morphological change and gene expression in neurons. In this review, we focus on the neurotrophin, brain-derived neurotrophic factor (BDNF). BDNF plays crucial roles in neuronal survival, gene expression, and dendritic growth, which are essential for neuronal plasticity. As previous studies suggest that BDNF triggers the activation of MRTF/SRF-mediated signal transduction, we have studied how this supposed regulatory ligand is involved in the functional MRTF changes in neurons. We review the BDNF-mediated roles of MRTF in neuronal morphology and gene expression and briefly discuss the possible involvement of MRTF in neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability.
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16. Koizumi M, Kobayashi W, Ogawa S, Kojima M. Vocabulary and Syntactic Development in Japanese Children With Autism Spectrum Disorder and Down Syndrome Accompanied by Intellectual Disability. J Intellect Disabil Res. 2025.
BACKGROUND: Children with intellectual disability (ID) have significantly delayed morphological and syntactic development. This study aimed to establish the link between vocabulary and syntactic development in children with autism spectrum disorder (ASD) and Down syndrome (DS) compared with children with typical development (TD), controlling for mental age (MA) as defined by the Tanaka-Binet Intelligence Scale V. METHODS: Participants comprised children with ID (N = 33), including 14 with ASD and 19 with DS; chronological age (CA) ranged from 9 to 17 years, with an MA of over 4 years. Children with TD (N = 28) had a CA of 5 years. Participants were assessed on vocabulary comprehension, vocabulary expression, syntactic comprehension and syntactic expression. We examined both group differences and within-group associations between vocabulary and syntax. RESULTS: Although we witnessed no significant differences in vocabulary comprehension or expression, children with ASD and DS performed significantly lower on syntactic comprehension and expression tasks than MA-matched children with TD. Both groups demonstrated difficulty with grammatical items requiring understanding of grammatical morphemes and grammatical knowledge. CONCLUSION: Both groups exhibited vocabulary development similar to that of children with TD; however, their syntactic development was lower than expected considering their MA and vocabulary development. Building and examining approaches focusing on syntax, particularly grammatical morphology, is important in educational and clinical practice for Japanese children with ASD and DS.
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17. Li X, Xu G, Geng G, Wang W, Hu J, Li Z, Li S. Subtyping Autism Spectrum Disorder With a Population Graph-Based Dual Autoencoder: Revealing Two Distinct Biotypes. CNS Neurosci Ther. 2025; 31(12): e70675.
AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by significant heterogeneity in clinical symptoms and underlying neurobiology. This study aimed to identify distinct ASD biotypes and uncover their neurobiological underpinnings using a novel graph-based subtyping approach. METHODS: Resting-state fMRI and clinical data from 443 males with ASD (17.22 ± 8.63 years) were analyzed. We proposed a population graph-based dual autoencoder for subtyping (PG-DAS), a deep clustering framework that integrates imaging data and nonimaging data to extract deep features for biotype identification. Statistical analyses were conducted to compare clinical scores and functional connectivity patterns between biotypes. Correlation analyses examined the associations between intra- and internetwork connectivity and clinical symptoms. Predictive modeling using support vector regression assessed the ability of network connectivity to predict clinical scores. RESULTS: Two distinct ASD biotypes were identified. ASD1 exhibited significantly lower clinical scores and reduced network integration, characterized by weaker intra- and internetwork connectivity, particularly in core networks such as the cingulo-opercular network, linked to communication symptom scores. In contrast, ASD2 exhibited greater network segregation, with internetwork connectivity in sensorimotor-related networks correlating with total symptom scores. Predictive modeling further revealed biotype-specific brain-behavior associations, with ASD1 and ASD2 showing positive correlations with social and communication scores, respectively. CONCLUSION: This study underscores the critical role of biotype-specific brain network patterns in understanding ASD heterogeneity. The proposed PG-DAS framework proved effective in ASD subtyping and holds promise for broader applications in exploring other neuroheterogeneous disorders.
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18. Libster N, Adams RE, Bishop S, Zheng S, Taylor JL. Associations Between Negative Social Experiences and Depressive Symptoms in Autistic Sexual and Gender Minority Youth. JAACAP Open. 2025; 3(4): 1006-15.
OBJECTIVE: Autistic lesbian, gay, bisexual, transgender, and queer/questioning (LGBTQ+) youth are at increased risk for negative mental health; however, no known studies have examined associations between specific social experiences and psychological distress within this group. The current study examined the effects of gender minority status and sexual minority status on negative social experiences (peer victimization and low degrees of authenticity) and depressive symptoms among autistic transition-aged youth, and explored whether associations between negative social experiences and depressive symptoms differed across gender/sexual identity. METHOD: Autistic youth (N = 203) between 15 and 26 years of age (mean = 18.69, SD = 2.58) were recruited through research registries. Youth and parents completed questionnaires, and youth participated in an interview. Biological sex, gender identity, and sexual orientation were collected from youth. Responses were coded into 3 gender/sexual identity groups: cisgender heterosexual (sex and gender match, heterosexual; n = 126), cisgender sexual minority (sex and gender match, sexual minority; n = 59), and gender minority (sex and gender do not match; n = 18). Youth questionnaires included measures of peer victimization, degree of authenticity when interacting with others, and depressive symptoms. RESULTS: Peer victimization and authenticity did not differ across gender/sexual identity groups; however, gender minority youth reported greater depressive symptoms than cisgender heterosexual youth. Higher frequencies of peer victimization and lower degrees of authenticity were associated with depressive symptoms. The effects of peer victimization and authenticity on depressive symptoms were amplified for gender minority youth compared to cisgender heterosexual youth. CONCLUSION: The current study demonstrates how certain social experiences negatively affect the psychological well-being of autistic youth, especially those who identify as gender minorities. LGBTQ+ youth with autism are at increased risk for negative mental health outcomes; however, no known studies have examined associations between specific social experiences and psychological distress within this group. In this study, measures of peer victimization, authenticity, and depressive symptoms were collected among youth with autism and compared across gender/sexual identity (cisgender heterosexual, cisgender sexual minority, and gender minority). Gender minority youth reported greater depressive symptoms than cisgender heterosexual youth, and peer victimization and authenticity had more negative effects on the depressive symptoms of gender minority youth compared to cisgender heterosexual youth. This study demonstrates how key social experiences may negatively impact the psychological well-being of youth with autism, especially those who identify as gender minorities. It also highlights the need for early intervention to support the mental health of these high-risk youth. eng.
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19. Minami T, Ikegame T, Tanaka M, Kumagai E, Kanehara A, Morishima R, Kumakura Y, Okochi N, Hamada J, Ogawa T, Tamune H, Kano Y, Jinde S, Kasai K. Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk. PCN Rep. 2025; 4(4): e70261.
AIM: 22q11.2 deletion syndrome (22qDS) is the most common copy-number-variation disorder, associated with multi-organ anomalies and elevated risk for schizophrenia and other neuropsychiatric conditions. Previous metabolomic studies have used blood samples, implicating mitochondrial dysfunction and amino acid imbalance, but no urinary metabolomic analysis has been reported. We aimed to characterize the urinary metabolomic profile of 22qDS. METHODS: We conducted an exploratory study comparing urine from 10 individuals with 22qDS and 10 age- and sex-matched healthy controls. Metabolites were quantified using capillary electrophoresis time-of-flight mass spectrometry and liquid chromatography time-of-flight mass spectrometry. Data were analyzed using principal component analysis and Wilcoxon rank-sum tests with false-discovery-rate adjustment. RESULTS: Principal component analysis indicated separation between groups. Several metabolites differed significantly, defined by a false discovery rate q < 0.20 and fold change > 1.5 or <0.67. Elevated metabolites in 22qDS included 2-hydroxyglutaric acid, p-cresol sulfate, p-cresol glucuronide, trimethylamine-N-oxide, and 3-indoxylsulfuric acid, whereas citrulline and lysine were reduced. These metabolites are implicated in mitochondrial dysfunction, amino acid imbalance, and gut microbial dysbiosis. A substantial proportion of altered metabolites corresponded to those previously reported in autism spectrum disorder (ASD), predominantly microbiota-related. CONCLUSION: This first urinary metabolomic study of 22qDS demonstrates systemic metabolic alterations, including mitochondrial and microbiota-associated changes. The overlap with ASD is suggestive of a possible shared metabolic signature. Our findings provide initial insights into systemic and microbial contributions to neuropsychiatric vulnerability in this genetically defined high-risk population.
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20. Northrup JB, Kim SY, Mazefsky CA. Associations between child characteristics and parent response to emotion differ in young children with and without an autism diagnosis. Autism. 2025: 13623613251395122.
This study examined how parents of children with and without an autism diagnosis respond to their children’s negative emotions. Specifically, we (1) compared levels of supportive, non-supportive, and distress reactions; (2) tested whether child characteristics (autism traits and emotion dysregulation) predicted parent responses; and (3) explored whether autism diagnosis moderated these associations. Participants were 1780 parents of 2- to 5-year-old children from the United States (812 with an autism diagnosis). Parents completed the Coping with Children’s Negative Emotions Scale and reported on children’s autism traits and emotion dysregulation. Results indicated that parents of autistic children reported slightly more supportive and less non-supportive and distress responses than parents of children without a diagnosis. Associations between child characteristics and parent responses differed by diagnostic group: parents of children without a diagnosis who had more autism traits reported more non-supportive and distress responses, while these associations were weaker or non-existent for parents of children with a diagnosis. Emotion dysregulation was also associated with parent responding, with subtle differences between groups. Findings suggest an autism diagnosis may shape how parents interpret and respond to children’s emotions.Lay AbstractThis study looked at how parents of 2- to 5-year-old children with and without an autism diagnosis respond when their children are upset. A total of 1780 parents completed a questionnaire about how likely they were to respond to their child’s negative emotions in ways that were supportive (e.g. comforting the child) and non-supportive (e.g. saying the child is over-reacting, punishing the child). The goal was to see if parents of children with autism respond differently compared to parents of children without autism, and to understand if certain traits of the child, like social-communication and emotional challenges, affect how parents respond. Parents of autistic children generally reported more supportive responding and less non-supportive responding compared to parents of children with a diagnosis, though these differences were very small. For parents of children without an autism diagnosis, having a child with more social or emotional challenges was linked to more non-supportive responses. In contrast, for parents of children with an autism diagnosis, their responses were less strongly associated with these child characteristics. Importantly, some of the young children in this study who did not have an autism diagnosis had significant social-communication challenges consistent with autism and may in fact be autistic children who haven’t been diagnosed yet. These results suggest that how parents of children with an autism diagnosis respond to their child’s emotions may not be as impacted by their child’s challenges as parents of children without a diagnosis, perhaps because the autism diagnosis provides parents with understanding and support around these challenges. This highlights the importance of early identification of autism and providing support to all parents, particularly those with children who have social-communication and emotional difficulties.
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21. Pagán AF, Ramirez AC, Loveland KA, Montiel-Nava C, Acierno R. Mental health outcomes of Latino emerging adults with autism spectrum disorder in a community-based, transition to adulthood program. Discov Psychol. 2025; 5(1): 176.
Latino individuals with autism spectrum disorder (ASD) face unique challenges during their transition to adulthood. This study evaluates ¡Iniciando! la Adultez, a culturally adapted behavioral health program aimed at addressing the co-occurring mental health needs of Latino young adults with ASD and their families. The program integrates culturally relevant elements to enhance engagement and effectiveness. Results indicated that the behavioral health intervention was associated with significant reductions in anxiety and depressive symptoms, highlighting the urgent need for tailored behavioral health services in this population. Additionally, the involvement of parents in group therapy demonstrated a positive impact on both parental and young adult mental health, underscoring the importance of supporting both young adults and their caregivers during this critical transition. These findings emphasize that culturally adapted behavioral health interventions can effectively address the distinct needs of Latino young adults with ASD, ultimately contributing to improved mental health outcomes and quality of life. Given the systemic disparities faced by Latino families, this study underscores the necessity for ongoing development and evaluation of culturally informed behavioral health services to support the well-being of this underserved population, particularly as they navigate the complexities of adulthood.
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22. Passmore SR, Medina MN, Mack C, Randolph M, Ausderau KK. « We Don’t Always Know What we are Missing. » Research Teams’ Perspectives on the Recruitment of Adults with Intellectual and Developmental Disabilities in General Population Research. J Empir Res Hum Res Ethics. 2025: 15562646251400490.
Ensuring that research participants accurately reflect patient populations is critical for the equitable distribution of the benefits and burdens of studies; however, many groups experiencing health disparities remain underrepresented in research. This study interviewed research team members (n = 25) interested in inclusive recruitment to understand their perspectives on engaging adults with intellectual and developmental disabilities in general population research. Team-based thematic analysis revealed barriers to the inclusion of adults with intellectual and developmental disabilities including 1) use of direct and indirect exclusionary practices, 2) lack of knowledge and skills, 3) reliance on ad hoc accommodations, 4) perceptions that including adults with intellectual disabilities in research lacks scientific value, and 5) beliefs that people with intellectual and developmental disabilities are not able or willing to participate. However, while team members acknowledged a lack of knowledge and skills to include people with intellectual and developmental disabilities, there was a strong interest in learning.
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23. Saei S, Alizadeh Zarei M, Hassani Mehraban A, Karamali Esmaili S, Kashefimehr B, Abolghasemi J. A mindful parenting program for self-care co-occupation of autistic children on parental outcomes: a feasibility pilot randomized clinical trial. Disabil Rehabil. 2025: 1-17.
PURPOSE: This pilot randomized clinical trial (RCT) evaluated the feasibility and exploratory effects of a mindful parenting participation program integrated into occupational therapy (OT) to enhance parental engagement in the self-care co-occupation of autistic children. MATERIAL AND METHODS: Twenty parent-child dyads were randomly assigned to the intervention (mindfulness-based training + conventional OT) or the comparison groups (conventional OT). The two-month intervention was followed by assessments immediately post-intervention and at two months. Outcomes were measured using the Canadian Occupational Performance Measure (COPM), Mindfulness in Parenting Questionnaire (MIPQ), Parenting Stress Index (PSI), and CAPES-DD for parental self-efficacy. RESULTS: Feasibility was confirmed, with high rates of acceptability (87.5%), attendance (75%), compliance (75%), and fidelity. The intervention group showed preliminary and exploratory improvement in parental satisfaction with the child’s self-care co-occupation compared to the control group, with a clinically meaningful change (SMD: 2.1 at the post-test, 1.4 at the follow-up). Improvements were also observed in mindful parenting and parenting stress. Parental self-efficacy showed delayed gains, becoming comparable at follow-up. CONCLUSIONS: Embedding mindfulness into parenting co-occupations is feasible and potentially beneficial in improving parental satisfaction and psychological well-being. Future studies with larger samples and longer follow-up are warranted.
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24. Sahebi M, Tamdjidi M, Thorell J, Azizi P. Physical activity and addressing emotional needs can help reduce medication dependence in autism. Front Psychol. 2025; 16: 1509827.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that causes deficits in social interactions, communication skills, intellectual limitations, and self-injurious behaviors. Common systemic comorbidities include gastrointestinal issues, obesity, and cardiovascular disease. Recent study has found a link between gut microbiota alterations and neurobehavioral symptoms in children with ASD. Physical activity and exercise therapy have been demonstrated to promote communication and social interaction while also positively influencing microbiota composition. This research intends to highlight how various sports can improve speech and social abilities in autistic children while also benefitting gut microbiota composition. Parents of autistic children confront several problems. Many parents are too busy or lack the essential information to care for their children at home, so they rely on government-provided healthcare facilities. This condition hinders these youngsters from having a regular upbringing, resulting in behaviors more akin to younger children as they get older. They frequently suffer from mental health concerns and may fail to articulate their needs and desires effectively. The inability to articulate oneself can lead to negative conduct, especially against others who remind them of their parents or siblings. Addressing these issues may entail examining early memories and involving people in activities that match their interests and developmental phases. By doing so, they may feel more understood and sensitive to instruction, like a small child.
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25. Salloum-Asfar S, Ltaief SM, Taha RZ, Nour-Eldine W, Abdulla SA, Al-Shammari AR. Correction: Salloum-Asfar et al. MicroRNA Profiling Identifies Age-Associated MicroRNAs and Potential Biomarkers for Early Diagnosis of Autism. Int. J. Mol. Sci. 2025, 26, 2044. Int J Mol Sci. 2025; 26(23).
The authors wish to make the following corrections to this paper […].
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26. Sartin EB, O’Malley L, Tomlinson AZ, Bennett L, Myers RK, Metzger KB, Bishop HJ, Yerys BE, Curry A. Autistic young adults’ routine travel pre- and post-license. Autism. 2025: 13623613251394558.
Compared with their non-licensed peers, licensed autistic adults appear to report more positive outcomes in objective measures of quality of life, particularly participation in activities outside of the home. We examined if this is due to individual differences/factors or the ability to independently drive. We conducted a prospective follow-up survey study of 16-21 years old in the United States and compared engagement in activities outside of the home over time by licensing status. Our final sample included 111 young adults; at follow-up, 62% did not have a permit or a license, 18% had obtained a permit, and 20% were licensed. Generally, travel patterns were consistent, except for reported increases in employment. The lack of overall differences across groups over time suggests individual differences in resources, barriers/facilitators to traveling, or general characteristics may underlie objective measures of quality of life rather than the obtainment of a license. Furthermore, regardless of licensure status, most respondents were not traveling everywhere they wanted to go, and nearly 80% were interested in a transportation modality they did not currently use. Thus, there is a continued need to support autistic adults’ independent use of various transportation modalities.Lay abstractShort Report: Obtaining a driver’s license may not change autistic young adults’ engagement in activities outside of the homeAutistic adults who have a driver’s license say they participate in activities outside of their home, like employment or socializing, more often than those who do not have a license. It is unclear if this is because these adults can drive or if people who obtain licenses are different in some way than those who do not obtain a license. To examine this, we administered multiple surveys to a group of autistic young adults (16-21 years old) to see if their travel patterns changed after obtaining a license. In total, 111 young adults completed our surveys. Generally, we did not see changes in adults’ travel patterns, regardless of if they obtained a license or not. The only change was an increase in employment over time among young adults who never obtained a learner’s permit/license and those who obtained a license. Overall, our findings suggest that individual differences may be why some adults are engaged in activities outside of the home more often than others. We also found that most adults in our sample were not traveling everywhere they wanted to go or using all the modes of transportation they were interested in. This suggests more efforts are needed that improve autistic adults’ independent mobility across transportation modes (e.g., driving, public transportation).
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27. Sperandini V, Fucà E, Sbarbati M, Schettino M, Falvo S, Quarin F, De Rose P, Vicari S. Differentiating autism spectrum disorder and global developmental delay in preschoolers: overlapping profiles and diagnostic challenges. Front Psychol. 2025; 16: 1690272.
INTRODUCTION: Differentiating Autism Spectrum Disorder (ASD) from Global Developmental Delay (GDD) in preschoolers may be challenging due to overlapping symptoms and shared developmental impairments. This study aimed to examine similarities and differences in adaptive functioning, emotional and behavioral characteristics, and autistic symptomatology in preschoolers with ASD and those with GDD presenting autistic traits. METHODS: Eighty-nine children aged 3 to 5.8 years (42 with ASD, 47 with GDD), matched for age, intelligence quotient, and sex, were assessed using the Adaptive Behavior Assessment System-Second Edition, the Child Behavior Checklist, and the Childhood Autism Rating Scale-Second Edition. RESULTS: Group comparisons revealed no significant differences in adaptive functioning or emotional-behavioral symptoms, with both groups showing marked adaptive deficits and borderline levels of social withdrawal. In contrast, clear differences emerged in autistic symptomatology, although certain items (e.g., imitation, adaptation to change, listening response, sensory response, and fear or nervousness) did not differ significantly. DISCUSSION: These findings underscore the complexity of early differential diagnosis between ASD and GDD and emphasize the importance of enhanced clinician training and tailored early interventions to improve diagnostic accuracy and individualized care planning.
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28. Takahashi Y, Takamatsu N, Okada N, Yagishita S, Kasai K. Meta-analysis of (1)H-MRS glutamate profiles in adult schizophrenia spectrum disorders and autism spectrum disorder: Study protocol. PCN Rep. 2025; 4(4): e70260.
BACKGROUND: Schizophrenia spectrum disorders (SSDs) and autism spectrum disorder (ASD) share social-cognitive deficits, genetic architecture, and overlapping animal models, yet the neurochemical signatures that differentiate them remain unclear. This protocol describes a systematic review and meta-analysis of proton magnetic resonance spectroscopy ((1)H-MRS) studies examining glutamate, glutamine, and their combined signals. The primary aim is to establish a human neurochemical benchmark to guide translational research. METHODS: Eligible studies will be those measuring (1)H-MRS glutamatergic metabolites at ≥3 T field strength in at least one of five brain regions: anterior cingulate cortex, dorsolateral prefrontal cortex, hippocampus, striatum, or thalamus. Adults (≥18 years) with SSD (stratified as ultra-high risk, first-episode psychosis, and treatment-resistant schizophrenia) and ASD diagnosed using standardized criteria will be compared to healthy controls. Systematic searches will be conducted in databases. Two independent reviewers will assess the risk of bias using the AXIS (Appraisal Tool for Cross-Sectional Studies) and MRS-Q (Magnetic Resonance Spectroscopy Quality Assessment Tool). Primary outcomes will be regional differences in metabolite concentrations. We will conduct random-effects meta-analyses integrating direct and indirect comparisons, with subgroup analyses by illness stage and medication status. RESULTS: We expect to identify both shared and distinct glutamatergic alterations across SSD subgroups and ASD, with potential stage-specific patterns in cortical and subcortical regions. CONCLUSIONS: This comprehensive analysis aims to identify regional brain glutamatergic biomarkers differentiating SSD and ASD. These neurochemical signatures will provide an essential reference framework for validating and guiding reverse-translational research. PROSPERO REGISTRATION NUMBER: CRD420251003550.
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29. Tiawongsuwan L, Klomchitcharoen S, Chumanee W, Tangwattanasirikun T, Saksittikorn S, Chawaruechai S, Jatupornpoonsub T, Wongsawat Y. Autism spectrum disorder disrupts brain network connectivity maturation during childhood development. Sci Rep. 2025.
Understanding the developmental trajectory of autism spectrum disorder (ASD) remains a critical barrier for timely intervention in children. Here, we investigated the deficit brain maturation trajectory during childhood development in 35 ASD level 1 and 35 neurotypical children through an electroencephalography (EEG) approach. An empirical study of the potential EEG biomarkers was demonstrated in a comprehensive view of group difference and age-related group comparison using alpha power, peak alpha frequency and transfer entropy during resting. We found a significant disruption of directional brain network communication between regions in children with ASD compared to neurotypical children. Our results also suggested that the children with ASD had altered occipital alpha power and peak alpha frequency development. The present study revealed promising findings that underpinned the developmental disruption of autism spectrum disorder, which may provide a prevailing insight into the disease pathology mechanisms, paving the way for future intervention advancement.
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30. Umamaheswara Reddy D, Phani Kumar KV, Ramakrishna B, Umaiorubagam GS. Design, Development and Functionality Evaluation of IoT-enabled User Adaptive Sensory Integration Room for Children with Autism Spectrum Disorder. Assist Technol. 2025: 1-14.
An increase in the usage of advanced digital Sensory Integration Rooms (SIRs) is being witnessed to address specific sensory needs of children with Autism Spectrum Disorder (ASD) and to improve their behavior and cognitive skills. The addition of Internet of Things (IoT) and RFID-based technologies improves the efficiency of such SIRs, which has been discussed in this paper. A User Adaptive Sensory Integration Room (UASIR) is designed and developed with a pool of Sensory Stimulating Devices (SSDs) to provide appropriate visual, auditory, and tactile stimuli. Interactive control panels followed by web interfaces and an RFID-based child identification system are introduced to elicit the capacities of stimuli management, efficient tracking of individual child interactions, and data acquisition. Four operational modes are emphasized in UASIR, including (i) relaxing (ii) exciting (iii) customized, and (iv) active, allowing for tailored sensory experiences based on individual preferences and therapeutic goals. Functionality evaluations reveal an overall satisfaction rate of 88% by 35 practitioners who utilized UASIR, indicating that it is highly effective in achieving its objectives. Wilcoxon signed-rank test revealed that practitioners’ ratings for the use of added technologies are significantly higher compared to traditional fixed and manual methods, confirming the usefulness of integrated advanced features.
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31. Valera-Gran D, Hurtado-Pomares M, Juárez-Leal I, Muñoz-Sánchez R, Campos-Sánchez I, Noce P, Piñero J, Navarrete-Muñoz EM. The EQo-Mental project: A protocol for a mixed-methods study on occupational balance and mental health in parents of children with developmental delays. PLoS One. 2025; 20(12): e0337542.
BACKGROUND: Parents of children with developmental delays (DD) often face significant challenges that affect their mental health and occupational balance. While early intervention services traditionally focus on child development, the occupational needs and well-being of parents remain underexplored. The EQo-Mental project aims to examine the association between parental mental health, occupational balance, and meaningful activity engagement, and to co-develop family-centred strategies that promote well-being in early intervention contexts. METHODS: This sequential mixed-methods study includes two phases. The quantitative phase will involve approximately 700 parents of children aged 0-6 years attending early intervention centres in Alicante, Spain. This phase comprises two components: (1) the psychometric validation of the Spanish versions of two occupational measures-the Occupational Balance Questionnaire (OBQ-E) and the Engagement in Meaningful Activities Survey (EMAS)-and (2) a cross-sectional analysis examining associations between occupational and mental health outcomes. Participants will complete a sociodemographic questionnaire along with validated self-administered instruments assessing occupational balance, meaningful activity engagement, stress, anxiety, depression, and psychological well-being. In the qualitative phase, participatory sessions and focus groups will be conducted with a subsample of parents and key stakeholders to explore perceived occupational and mental health needs and to co-design actionable strategies for improving occupational balance and family well-being. Participant recruitment began in November 2023 and is ongoing; data collection is expected to be completed by October 2025. ANALYSES: Psychometric analyses will first be conducted to evaluate the validity and reliability of the OBQ-E and EMAS. Next, descriptive analyses and multiple regression models adjusted for potential confounders will be used to explore associations between occupational and mental health variables. Phase 2 consists of a participatory-action research process, including discussion groups and a multi-stakeholder focus group. Qualitative data will be analysed using reflexive thematic analysis. OUTCOMES: Findings from EQo-Mental will inform the design of evidence-based, family-centred strategies that support occupational balance, parental well-being, and engagement in meaningful activities. By addressing the occupational needs of parents, the project seeks to foster more resilient families and strengthen early intervention services through an inclusive, occupation-focused approach.
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32. Wright R, Li J, Blankenship JM, Richards J, Coenraads M, von Hehn J, Clay I, Lyden K, Leonard-Corzo KS. Breathing Dysfunction as a Meaningful and Measurable Aspect of Health in Rett Syndrome: A Caregiver’s Perspective. Digit Biomark. 2025; 9(1): 181-92.
INTRODUCTION: Incorporating outcome measures that assess the most impactful symptoms is a priority for clinical trials. We qualitatively examined whether caregivers of individuals with Rett syndrome deemed breathing dysfunction as a meaningful and measurable aspect of health. METHODS: We conducted semi-structured interviews (N = 13) with caregivers of individuals with Rett syndrome followed by thematic analysis grounded in theory to examine themes. RESULTS: Themes and subthemes for experiences with breathing dysfunction emerged: (1) meaningfulness; (2) impact; and (3) connecting with other symptoms. Two themes for preferences for digitally measuring breathing dysfunction emerged: (1) conditional willingness and (2) benefits of digital measurement. CONCLUSION: Caregivers reported that breathing dysfunction was meaningful and measurable and had significant impacts on their child’s lives as well as theirs and their families. This study lays the groundwork for guiding the development of novel measures and outcomes within future clinical trials managing breathing dysfunction in Rett syndrome.
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33. Zeng W, Yin F, Song P, Wu Y, Zhao C, Wu G, Yu J. Adaptive Multi-Scale Dynamic Graph Representation Learning With Overlapping Community-Awareness for ASD Classification. IEEE J Biomed Health Inform. 2025; 29(12): 8711-8.
In recent years, dynamic functional connectivity (dFC) has been widely employed for brain disease diagnosis. By leveraging the inherent topological characteristics of the brain, graph neural networks (GNNs) have emerged as prominent deep learning methods for utilizing dFC in this context. However, existing research has some limitations. Temporally, the conventional fixed-length sliding window approach often fails to capture the multi-scale temporal characteristics inherent in brain activity. Spatially, GNN-derived graph representations usually overlook the multi-network participation of brain regions. To address these limitations, we propose Ada-MST, an adaptive multi-scale spatio-temporal model utilizing multi-scale dFC for brain disease diagnosis. Our framework constructs personalized multi-scale dFC graphs that adapt to subject-specific temporal characteristics. Moreover, we introduce a novel overlapping community-aware readout module that incorporates the participation of brain regions in multiple functional networks, leading to more accurate graph-level representations. Experiments on ABIDE-I and ABIDE-II datasets demonstrate that our method outperforms state-of-the-art approaches. Visualization analysis further confirms the generalizability of the subject-adaptive graphs and their focus on disease-related brain activity. Furthermore, the fuzzy memberships revealed by our readout module indicate distinct patterns across diseases, suggesting the promise of considering functional community membership changes for exploring disease biomarkers.
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34. Zhang T, Zhang S, Jiang Y. Automatic pupillary responses to pain perception in adults and children: The influence of race and autistic traits. Cognition. 2025; 268: 106384.
The ability to understand and share others’ emotional states (e.g., feeling of pain) plays a fundamental role in survival and prosocial behavior. The current study utilized pupillometry to assess automatic psychophysiological responses to others’ painful facial expressions in both adults and children (N = 72). Results revealed that pupil size significantly increased when perceiving painful versus neutral expressions, independent of low-level visual features. Notably, both adults and children exhibited a racial in-group bias, with pupil dilation effects observed only for same-race painful faces. Furthermore, individuals’ Autism Spectrum Quotient scores were negatively correlated with pupil dilation effects toward painful expressions of same-race faces. These findings suggest that pupillary responses might reflect automatic empathic arousal to others’ pain and are modulated by racial group membership and autistic traits, providing a potential physiological indicator, at least at the group level, for probing affective resonance in children or individuals with socio-cognitive disorders (e.g., autism spectrum disorder).
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35. Zhang Y, Zheng W, Yan X, Zhang Y, Peng B, Wu D, Zhang L, Pang H, Yang R, Wang Y, Li G, Ma X. Influence from the intestinal microbiota of neonate on early child development. BMC Pediatr. 2025; 25(1): 976.
OBJECTIVE: The early-life microbiome is gaining appreciation as a major influencer in human development and long-term health. The present study explored the influence from the intestinal microbiota of neonate on early child development. METHODS: The first internal discharge was collected from the Beijing Birth Cohort Study (BBCS) located in Beijing, China. Then these children were followed up using the Ages & Stages Questionnaires (ASQ). 77 children were found with at least one domain of developmental delay, and 259 children with no delays were randomly selected as control group, as a nested case-control study. Their meconium microbiome were profiled using multi-barcode 16 S rRNA sequencing at V1-V9 hypervariable region. RESULTS: There were significant difference in alpha-diversity and beta-diversity measures of intestinal microbiota between groups of children with or without developmental delays(P<0.05), as group of children with developmental delays had less diversity in intestinal microbiota. And there were significant differences on the species composition as well. On genus level, linear discriminant analysis effect size (LefSe) showed higher abundances of Serratia, Burkholderia-Caballeronia-Paraburkholderia, and Enterococcus in the group with developmental delays. It indicated that the lower diversity of intestinal microbiota, and higher abundances of certain intestinal microbiota might be related to developmental delays. CONCLUSION: There were significant differences in the intestinal microbiota of neonate between children with or without developmental delays. Lower diversity of intestinal microbiota, and higher abundances of certain intestinal microbiota might be related to developmental delays.
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36. Zhu M, Liu J, Xiao H, Shi F, Li K, Tao L. Measurement properties of assessment tools for affiliate stigma in parents of children with autism: a systematic review protocol. BMJ Open. 2025; 15(11): e111592.
INTRODUCTION: Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder. Parents of children with ASD often have a higher level of affiliate stigma, which impacts their physical and mental health, family relationships and social functions. Nowadays, a variety of assessment tools are available for measuring this stigma, but they have many limitations. This systematic review aims to critically appraise the measurement properties of instruments used to assess affiliate stigma in parents of children with autism and help researchers and healthcare professionals make more appropriate choices when using these tools. METHODS AND ANALYSIS: This protocol adheres to the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols guidelines. We will search five English databases (ie, PubMed, Web of Science, ScienceDirect Online, Embase and Cochrane Library) and four Chinese databases (ie, SinoMed, China National Knowledge Infrastructure, Wanfang Database and VIP information) from the databases’ inception to 30 September 2025. Eligible studies will evaluate instruments measuring affiliate stigma in parents of children with autism, including self-report and observer ratings. The psychometric properties assessed will include reliability, validity, responsiveness, interpretability and clinical utility. Only primary quantitative studies published in peer-reviewed journals will be included. The search will have no limitations on language or time. Two researchers will independently carry out data extraction and quality assessment, with disagreements resolved through consensus or a third researcher. The consensus-based standards for the selection of health measurement instruments risk of bias checklist and the Grading of Recommendations Assessment, Development and Evaluation approach will be used to evaluate each measure’s methodological quality and overall strength of evidence. ETHICS AND DISSEMINATION: As this research constitutes a systematic review of pre-existing published data, formal ethics committee approval is deemed unnecessary in accordance with international research ethics guidelines. The synthesised findings will be submitted for publication in a rigorously peer-reviewed academic journal and presented at pertinent scientific conferences to ensure transparent knowledge dissemination within the academic community. PROSPERO REGISTRATION NUMBER: CRD420251043478.
