1. Boltri M, Gabriel-Segard T, Sapuppo W, Kayser N, Dicembre M, Yeganyan A, Duquesnoy M, Leboyer M, Hanachi M. Autism Spectrum symptoms in a population of extremely undernourished patients with Anorexia Nervosa: a pilot study. J Psychiatr Res. 2025; 190: 333-40.

OBJECTIVES: Symptoms of Autism Spectrum Disorder (ASD) are overrepresented among individuals with Anorexia Nervosa (AN). We aimed to study the prevalence of ASD symptoms in extremely undernourished inpatients with AN and focus on potential cognitive and nutritional correlates. METHODS: We recruited prospectively all extremely undernourished patients with AN admitted to the Nutritional Care Unit of Paul Brousse Hospital over four months. ASD traits and AN psychopathology were assessed by administering the Autism Quotient (AQ) and the Eating Disorder Inventory-2 (EDI-2). Neuropsychological and bio-nutritional data were also collected. RESULTS: Among 33 participants aged 25.5 ± 9.3 (91 % females, BMI: 12.1 ± 1.4), 12 % scored above the clinical cut-off on the AQ. Independently of age and BMI, EDI-2 scores were significantly correlated with AQ-total scores (r = 0.62; p < 0.01), higher levels of cognitive rigidity (r = 0.61; p < 0.001) and sensory sensitivity alterations (r = 0.69; p < 0.01). In the cross-sectional model, the AQ-communication domain, and the GSQ-hyposensitivity scale were significant predictors (p < 0.5) of the variance in EDI-2 scores. Negative beliefs and cognitive confidence were associated with lower levels of Transthyretin (p < 0.02). CONCLUSIONS: ASD traits presented high prevalence in extremely undernourished patients with AN. Despite the impact that malnutrition can have on cognitive functioning, most of these traits appear to be independent of BMI but associated with the severity of eating psychopathology; only Transthyretin was associated with dysfunctional metacognitions. These preliminary results suggest that ASD symptoms might co-occur in severe AN and require specific therapeutic interventions.

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2. Brami H, Zamstein O, Wainstock T, Sheiner E. Adverse labor events and childhood autism – is there a link?. Eur J Obstet Gynecol Reprod Biol. 2025; 314: 114630.

OBJECTIVE: While the global interest and prevalence of autism spectrum disorder (ASD) are on the rise, the underlying mechanism and potential perinatal risk factors for its development are yet to be fully elucidated. In this study, we have sought to examine the potential association between unfavorable perinatal outcomes and ASD during childhood. STUDY DESIGN: A population-based cohort analysis was conducted that included deliveries at a tertiary referral hospital. The incidence of offspring diagnosed with ASD (both community and hospital-based diagnoses) was compared based on exposure (or lack thereof) to the composite variable « adverse perinatal outcomes » (comprising of 5-min Apgar scores <7, umbilical cord blood pH < 7.0, and non-reassuring fetal heart rate leading to medical intervention). A Kaplan-Meier survival curve was used to assess cumulative ASD incidence. A Cox proportional hazards model was used to control for confounders. RESULTS: Out of the 165,989 births included in the study, 11,070 (6.7 %) had adverse perinatal outcomes. These births were more commonly complicated by intra-uterine growth restriction (4.1 % vs. 1.8 %), preterm delivery (9.6 % vs. 6.6 %), and cesarean delivery (45.3 % vs. 13.4 %; p < 0.001 for all). 862 offspring of the cohort were diagnosed during childhood with ASD. Overall, the cumulative incidence of ASD diagnoses was equivalent comparing adverse perinatal outcomes exposure status (Kaplan-Meier logrank p = 0.690. A Cox proportional hazards model, controlling for ethnicity, gestational age, maternal age, cesarean delivery, and gender, found no association between adverse perinatal outcomes and the risk of ASD (adjusted HR = 0.96, 95 % CI 0.75-1.22, p = 0.72). CONCLUSION: Adverse labor events, although concerning in terms of immediate neonatal health, do not appear to contribute to a higher risk of ASD in children as they grow older.

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3. Howerton EM, Morrill V, Schrott R, Daniels J, Song AY, Benke K, Volk H, Farzadegan H, Anido Alexander A, Tapia AL, Dichter GS, Croen LA, Wiggins L, Wojcik G, Fallin MD, Ladd-Acosta C. An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits. J Neurodev Disord. 2025; 17(1): 49.

BACKGROUND: Quantitative measures of autism spectrum disorder (ASD)-related traits can provide insight into trait presentation across the population. Previous studies have identified epigenomic variation associated with ASD diagnosis, but few have evaluated quantitative traits. We sought to identify DNA methylation patterns in child blood associated with Social Responsiveness Scale score, Second Edition (SRS). METHODS: We conducted an epigenome-wide association study of SRS in child blood at approximately age 5 in the Study to Explore Early Development, a case-control study of ASD in the United States. We measured DNA methylation using the Illumina 450K array with 857 samples in our analysis after quality control. We performed regression of the M-value to identify single sites or differentially methylated regions (DMRs) associated with SRS scores, adjusting for sources of biological and technical variation. We examined methylation quantitative trait loci and conducted gene-ontology-term pathway analyses for regions of interest. RESULTS: We identified a region about 3.5 kb upstream of ZFP57 on chromosome 6 as differentially methylated (family-wise error rate [fwer] < 0.1) by continuous SRS T-score in the full sample (N = 857; fwer = 0.074) and among ASD cases only (N = 390; fwer = 0.021). ZFP57 encodes a transcription factor involved in imprinting regulation and maintenance, and this DMR has been previously associated with ASD in brain and buccal samples. CONCLUSIONS: Blood DNA methylation near ZFP57 was associated (fwer < 0.1) with SRS in the full population sample and appears to be largely driven by trait heterogeneity within the autism case group. Our results indicate DNA methylation associations with ASD quantitative traits are observable in a population and provide insights into specific biologic changes related to autism trait heterogeneity.

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4. Li L, Zhu X, Wan S, Wang L, Pan L, Peng S, Chen J. Research on the improvement of daily living skills of children with autism in virtual campus environments. Sci Rep. 2025; 15(1): 30102.

This study investigated the effectiveness of daily living skills intervention training for children with autism in a virtual campus setting. First, six children with autism (age M = 10.50, SD = 2.22) participated in a 4-week experiment totaling 8.4 h. The effectiveness of the virtual school environment and the daily living skills intervention were used as indicators during data collection and processing. In addition, a series of 3D environments based on daily life were constructed using SketchUp Pro 2021, which were converted to virtual environments using Unreal Engine 4. The HTC Vive external headset facilitated intervention training for children with autism. Most importantly, the results demonstrated the effectiveness of interactive domains such as grabbing bread in a cafeteria environment, making a phone call in front of a school, and switching lights and picking up a book in a library environment, where participants showed significantly higher levels of performance (p < 0.05). Scores on the Social Communication Questionnaire (SCQ) for children with autism (M = 19.33, SD = 4.18) were lower than baseline values (M = 22.83, SD = 4.79), while scores on the Social Skills Questionnaire (SSQ) (M = 26.17, SD = 3.97) were higher than baseline values (M = 20.00, SD = 2.28), suggesting that the overall social effectiveness of the participants following the intervention improved (p < 0.05). In conclusion, the statistical analysis showed that participants who received the intervention had significantly improved daily living skills such as grabbing bread, making phone calls, changing lights, and picking up books.

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5. Liu W, Gong X, Ou J, Chen S. Burden and inequality of autism spectrum disorders in global, East asian, and Southeast Asian regions, 1990-2021: result from the global burden of disease study 2021. BMC Public Health. 2025; 25(1): 2810.

INTRODUCTION: Autism Spectrum Disorders (ASD) represent a range of neurodevelopmental conditions characterized by abnormal behavioral patterns. ASD is frequently comorbid with other neurodevelopmental disorders. However, there remains a gap in research on the burden of ASD in East and Southeast Asia. METHODS: We stratified the analysis by region, country, age, and sex; used the Sociodemographic Index (SDI) as a pivot to examine the relationship between the burden of autism and SDI through frontier analysis and health inequality analysis; and finally projected global, sex-specific trends in ASD disease burden from 2022 to 2050. RESULT: The global burden of ASD, including in East and Southeast Asia, has exhibited a generally increasing trend over recent decades. Japan demonstrated a relatively high ASD burden. The analysis revealed that females tend to experience a higher burden than males, and ASD is more prevalent among younger age groups. A positive correlation was observed between SDI and ASD burden, with higher SDI levels associated with greater burden. Health inequality analyses indicated that while ASD prevalence and Years Lived with Disability (YLDs) are predominantly concentrated in high-SDI countries, incidence rates are higher in low-SDI regions. Finally, the global burden of ASD among both males and females is projected to continue rising through the year 2050. CONCLUSION: The burden of ASD in East and Southeast Asia continues to increase year by year. High-SDI countries tend to report a greater disease burden. From 1990 to 2021, nearly all countries in the region experienced a continuous rise in ASD burden. Although there is a growing trend of ASD incidence shifting toward low-SDI countries, prevalence and years lived with disability (YLDs) remain predominantly concentrated in high-SDI countries. Finally, the global burden of ASD among both males and females is projected to continue rising through 2050.

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6. Malekpour M, Parhizkar M, Golabi F, Thompson R, Zakwani MA, Soleymanjahi S, Chohedri E. Exploring the shared genetic basis between autism spectrum disorder and gastrointestinal disorders: a bioinformatic study. Sci Rep. 2025; 15(1): 30086.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with early-appearing social communication deficits and repetitive behaviors. ASD is associated with various comorbidities, including gastrointestinal (GI) conditions. This study aims to identify shared genetic mutations between ASD, inflammatory bowel disease (IBD), and celiac disease through bioinformatics, to uncover mechanisms contributing to GI issues in ASD patients. In this study, databases including DisGeNET, Genome Wide Association Study (GWAS) Catalog, and Ensembl were utilized to identify variation disease associations (VDAs) for ASD, celiac disease and IBD. Shared VDAs were identified using the Molbiotools website and validated by reviewing original articles and resources provided by the databases. In our screening 2367 VDAs found for ASD, 458 for Celiac disease and 1912 for IBD. However, search across these databases revealed only 3 shared VDAs among ASD, celiac disease and IBD. These shared VDAs were found in the Methylenetetrahydrofolate reductase (MTHFR), Myosin IXB (MYO9B), and Transcobalamin 2 (TCN2) genes. However, the association between the TCN2 gene and celiac disease was not confirmed during the validation process. In this study, we investigated the shared genetic basis between ASD and genetically defined GI disorders based on previously published papers. The findings of this study provide valuable insights into the shared genetic basis of these diseases; however, further investigations are needed to understand these genetic implications.

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7. Mirahmadi M, Kahani SM, Sharifi-Zarchi A, Firouzabadi SG, Behjati F, Garshasbi M. Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing. Biochem Genet. 2025.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by abnormal social interactions, verbal communication difficulties, and restricted repetitive behaviors. Identifying the underlying genetic factors is crucial because of the complex genetic and environmental etiology. In this study, we performed whole-exome sequencing (WES), whole-genome sequencing (WGS), and array comparative genomic hybridization (aCGH) of four Iranian families with ASD-related conditions to identify novel genomic alterations. Five previously undescribed mutations were identified in these families. Family 1: A homozygous 290.7 kb deletion CNV (chr8:103,652,204-103942926; hg38) encompassing exons 2-16 of RIMS2 (NM_001348484), confirmed in a 7-year-old male proband with developmental delay and cone-rod synaptic disorder. Family 2: A heterozygous nonsense mutation in FOXG1 (NM_005249.5:c.839C > A; p.Ser280Ter) in a 6-year-old female with Rett-like features, resulting in a truncated protein lacking corepressor domains. Family 3: A splice donor site mutation in AUTS2 (NM_015570.4:c.742 + 1G > C) in a 10-year-old female with ASD and Attention-deficit/hyperactivity disorder, generating a frameshift and premature stop codon affecting mRNA-binding functionality. Family 4: A heterozygous nonsense mutation in ZCCHC17 (NM_016505.4:c.220C > T; p.Arg74Ter) and a splicing variant in SPTBN5 (NM_016642.4:c.3470 + 2T > A) in two male siblings with ASD were predicted to result in truncated proteins and aberrant splicing. Pathogenicity was supported through in silico analyses and structural modeling using I-TASSER, and segregation was confirmed using Sanger sequencing. This study highlights the genetic diversity of ASD and underscores the importance of advanced sequencing technologies in identifying novel mutations. Our findings contribute to the growing body of knowledge regarding the genetic basis of ASD, paving the way for personalized treatment strategies and early diagnosis.

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8. Selick A, Bernier SL, Bobbette N, Cardiff K, Lunsky Y. Direct support professional perspectives on the value of virtual healthcare for adults with intellectual and developmental disabilities: Trends over four years. Disabil Health J. 2025: 101961.

BACKGROUND: Direct support professionals (DSPs) often play a critical role in supporting healthcare interactions for people with intellectual and developmental disabilities (IDD) but little is known about their experience supporting virtual healthcare. OBJECTIVE: This study explored utilization of virtual care and DSP experiences of supporting virtual care at four time points in Ontario, Canada. METHODS: DSPs in Ontario were invited to participate in an online survey in 2020 (n = 867), 2021 (n = 428), 2022 (n = 698) and 2023 (n = 603). This study focuses on the subset of questions related to DSP experience supporting virtual healthcare. Descriptive statistics were used to summarize quantitative data and content analysis was used to analyze open text responses. RESULTS: Over the four surveys, reported utilization of phone-based care was consistently higher (53-60 %) than video-based care (20-30 %). DSPs were more likely to provide positive feedback for video-based care compared with phone-based care, however, there was a decline in positive feedback for both over the four surveys. Though video-based care in particular was identified as valuable for patients who struggle to attend in-person appointments, ongoing challenges were reported including technical issues and poor communication quality. CONCLUSIONS: Without the overwhelming concern of COVID transmission, for many patients, the benefits of virtual care may not outweigh the ongoing challenges. However, there appears to be a subset of people for whom virtual care can be critically important to support accessible care. DSPs require more training and resources to effectively support virtual healthcare visits.

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9. Su L, Liu T, Wei L. The influence of sound on joint attention in individuals with high autistic traits: Evidence from eye movements and fNIRS. Acta Psychol (Amst). 2025; 259: 105365.

BACKGROUND: Individuals with subclinical autistic traits demonstrate joint attention (JA) impairments analogous to those observed in autism spectrum disorder (ASD). This study investigated whether sound cues enhance JA performance in high Autism Spectrum Quotient (AQ) individuals and characterized the neurocognitive mechanisms underlying this modulation. METHODS: A crossover experimental design was implemented across two modalities. Experiment 1 (eye movements) included 22 high AQ and 22 low AQ subjects, while Experiment 2 (functional near-infrared spectroscopy, fNIRS) involved 28 high AQ and 19 low AQ subjects. Multimodal analyses compared gaze patterns and the activation of prefrontal-temporal cortical during sound v.s silent JA tasks. RESULTS: a) under sound JA, all subjects had longer dwell time than silent JA. b) under sound JA, low AQ had more activation of dorsolateral prefrontal than silent JA. c) under sound JA, low AQ had more activation of dorsolateral prefrontal than high AQ. d) under non-JA, the sound cues made high AQ had more activation of temporal than silent condition. CONCLUSION: Sound influences JA processing through dual-pathway mechanisms: augmenting prefrontal attentional control in low AQ while inducing compensatory temporal activation in high AQ. This neurofunctional dichotomy supports the autism trait continuum hypothesis and validates the feasibility of multimodal paradigms for simulating core ASD symptoms, laying a methodological foundation for developing novel intervention strategies.

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10. Taylor JL, DaWalt LS, Burke MM, Xu M, Slaughter JC. Effects of a parent advocacy intervention on service access for transition-aged autistic youth: a multisite randomized controlled trial. J Child Psychol Psychiatry. 2025.

BACKGROUND: Autistic youth in the United States face many challenges accessing services as they transition to adulthood. Improving parents’ ability to advocate for services is a promising way to improve service access. The current study tested whether participation in an intervention to improve parents’ ability to advocate for adult services (called Advocating for Supports to Improve Service Transitions or ASSIST) led to increased service access for their transition-aged autistic youth. METHODS: Using a multisite, single-blind parallel-group design, we randomized 185 parents of transition-aged autistic youth to either a treatment condition that received the ASSIST intervention, or a control condition that received comprehensive written information about adult services. Primary outcomes for this report – number of government programs that fund services and direct services received by the youth – were collected via parental interview at baseline, six, and 12 months after intervention. RESULTS: Primary analyses found no significant treatment effects on service access. Subgroup analyses, however, detected treatment effects for families of youth who had exited high school prior to their families taking ASSIST. Among those families, youth from the treatment group were receiving more government programs that fund services at 6 months after intervention compared with youth from the control group. CONCLUSIONS: We cannot conclude from our findings that ASSIST improved access to services, though there was some evidence to suggest increased access to government programs that fund services for families of autistic youth who had exited high school. Future research should investigate which families can translate written information about adult services (i.e. the control condition) into improved service access, and which families need more individualized support beyond a group-based class to see improvements in service access.

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