1. Barry A, Haegele JA, Pickett KA, Schaefer D, Columna L. Autistic young adults’ experiences in physical activity: A phenomenological study. Autism. 2025: 13623613251338377.

Young adulthood is a key period for establishing lifelong physical activity (PA) habits, yet little is known about how autistic young adults experience PA. The purpose of this study was to explore how autistic young adults make sense of their PA experiences and the meanings they ascribe to those experiences. Thirteen autistic young adults (ages 22-25) participated in semi-structured interviews about their PA experiences. A phenomenological qualitative approach with an interpretivist paradigm guided this study. Participants described how their PA experiences evolved over time. In childhood, many engaged in team sports, often encouraged by their parents. As they transitioned to adulthood, they shifted toward more independent activities (e.g. running, yoga). Social support from friends and teammates was a strong motivator, while personal achievements (e.g. reaching fitness goals) helped to build a sense of pride. Many participants emphasized the mental and emotional benefits of PA, including increased confidence, reduced stress, and a greater sense of control. These findings described how autistic young adults engaged in PA as they moved into adulthood and pointed to important factors to consider when creating supportive PA opportunities for this population.Lay AbstractMany autistic young adults face challenges in staying physically active as they grow older. This study explores how they experience physical activity (PA), what it means to them, and how their participation changes over time. We talked to 13 autistic young adults (ages 22-25) about their PA experiences from childhood to adulthood. We used a qualitative approach to identify key themes in their stories. Participants shared how their experiences with PA changed over time. As children, many played team sports, often because their parents encouraged them to join. As they got older, they preferred activities they could do on their own, like running or yoga. Friends and teammates helped motivate them to stay active, while setting and reaching personal fitness goals gave them a sense of pride. Many also said that PA helped them feel better emotionally, giving them more confidence, reducing stress, and making them feel more in control of their lives. These findings show how PA can positively impact autistic young adults and provide information into how to create better PA opportunities for them. Encouraging independence, building motivation, and promoting social connections can help support their participation in PA.

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2. Barua S, Murty VV, Iglesias A, Liao J. A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia. Mol Genet Genomic Med. 2025; 13(6): e70102.

BACKGROUND: Pathogenic germline missense and in-frame indel variants in exons 30 or 31 of the EP300 gene are associated with Menke-Hennekam syndrome-2 (MKHK2). The phenotypic spectrum associated with MKHK2 is variable, including neurodevelopmental, respiratory, skeletal, and immunological impairments. Based on their genetic, clinical, and DNA methylation profiles, a recent study proposed three domain-specific subtypes of MKHK: MKHK-ZZ, MKHK-TAZ2, and MKHK-ID4. In somatic cells, EP300 variants have been reported in lymphoma, leukemia, and various solid tumors. We present an African American girl with global developmental delay, failure to thrive, microcephaly, seizure, osteopenia, and T-cell acute lymphoblastic leukemia (T-ALL). METHOD: We performed karyotype, FISH, chromosomal microarray, and exome sequencing with probands bone marrow, blood, and buccal swab. RESULT: Comprehensive genetic studies using multiple tissues detected somatic complex cytogenomic changes in blood cells and a de novo germline missense variant (NM_001429.4: c.5258G>A, p.Cys1753Tyr) in the TAZ2 domain of EP300 from her buccal swab, which is consistent with a diagnosis of MKHK2. While in our patient we observed phenotypic overlaps with affected individuals harboring variants in the TAZ2 domain, some phenotypes such as osteopenia and alopecia have not been reported previously. The hematolymphoid malignancy of our patient also raises the question of whether germline EP300 variants are associated with a genetic predisposition to cancer. CONCLUSION: Together, this case expands the growing body of knowledge regarding the clinical and genetic spectrum of MKHK2. This is the first MKHK individual reported in the literature in an underrepresented population of African American ancestry.

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3. Best M, Lindsay R, Demissie S, Burakov I, Ramos-Torres S, Burke M. From awareness to action: Facilitators and advocacy in healthcare by autistic adults. Autism. 2025: 13623613251343350.

Autistic adults face various psychological and physical health conditions which often require ongoing medical attention. Despite a greater likelihood of health conditions, autistic adults face many systemic barriers in accessing healthcare services. It is important to identify facilitators to healthcare access and recognize the impact of self-advocacy on these experiences. In this qualitative study, we interviewed 15 autistic participants to understand their experienced and desired facilitators when accessing healthcare services, as well as the role of self-advocacy in accessing these services. Overall, participants agreed that formal and informal supports, provider knowledge about autism, and provider openness to providing accommodations served as facilitators. Participants also shared about their experiences related to self-advocacy and accessing healthcare services such as examples of self-advocacy in healthcare, learning to be a self-advocate, and facilitators of self-advocacy. Implications for research and practice are discussed.Lay abstractAutistic adults often have both mental and physical health needs that require ongoing care. However, they often face obstacles when trying to get healthcare. This study aimed to find out what helps autistic adults get the healthcare they need and how self-advocacy, or speaking up for themselves, plays a role. We talked to 15 autistic individuals about their experiences and what they wished for when accessing healthcare. Participants mentioned that support from others, doctors’ knowledge about autism, and doctors being willing to make changes as needed per patient need were helpful. They also shared how self-advocacy impacted their healthcare experiences, including examples of how they advocated for themselves and what helped them do so. The study offers insights that could inform future research and healthcare practices.

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4. Fukuoka A, Kitada R, Makita K, Makino T, Sakakihara N, Nummenmaa L, Kosaka H. Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults. Mol Autism. 2025; 16(1): 31.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by social communication deficits, repetitive behaviors and restricted interests. Studies have reported aberrant sensory responses, including altered experiences of social touch, in individuals with ASD. However, the relationship between atypical social touch and social networks in ASD remains poorly understood. Social touch is used to strengthen and manage social networks in many species. Studies in general populations across diverse cultures show that the extent of permissible touch is consistently linked to the strength of emotional bonds between the toucher and the touched individual. This study examined relationship-specific patterns of social touch and their association with emotional bonding in individuals with ASD. METHODS: Seventy adults with ASD and 70 typically developed (TD) adults rated their emotional bonds with different social network members (e.g., partners, fathers, strangers) and the pleasantness of being touched by each. Participants also identified body regions where they allowed touch. We hypothesized that patterns of interpersonal touch allowance and emotional bonding, and their relationship, would differ between ASD and TD adults. RESULT: In all social network members except children and female friends, ASD adults allowed significantly less social touching than TD adults. Compared to TD adults, ASD adults also reported having significantly weaker emotional bonds with one social network member and experiencing significantly less pleasantness when touched by multiple members of their social network. In both groups, strength of emotional bond was significantly correlated with permissible touch area. Linear regression analyses showed that our ASD participants were more reliant on bodily touch allowance for emotional bonding than the TD controls. LIMITATIONS: More participants are necessary to secure sufficient number of social network members in ASD. CONCLUSIONS: Our results suggest that adults with ASD generally prefer less social touch from most social network members and show reduced emotional bonding with only a specific connection. In addition, touch allowance was more strongly associated with emotional bonding in ASD than TD adults. These findings highlight the influence of autistic traits on the relationship between social touch and emotional bonding within social networks.

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5. Greco C. Woman in the brain, or the fraught relationship between feminism and mental health. Med Humanit. 2025; 51(2): 228-36.

This article explores the complicated relationship between feminism and women’s mental health. I discuss the differences and convergences between neurodiversity and mental health and how feminist theory has approached these topics. While contrasting the pathologisation that mental health disciplines can apply to women, feminism has often reduced mental health conditions to mere manifestations of patriarchy. Using autism as a prism, I propose that the neurodiversity paradigm can be a means to discuss diverse brain and mind experiences without reinforcing pathologisation. The choice of autism has two motivations: while autism is a neurological difference and not a mental illness, the complex experiences of autistic women exemplify their otherness and exclusion, highlighting the marginalisation of women with atypical brains not just in society but also in feminist theories and practicesDrawing on documentary sources and discussing theoretical approaches from the UK, the USA, and, to a lesser extent, other English-speaking countries, this article aims to advance the feminist discourse on mental health. I illustrate the necessity to enrich feminist perspectives on mental health and suggest ways to make feminist theories and practices more inclusive of neurodivergent and mad women.

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6. Guo Q, Kouyama-Suzuki E, Shirai Y, Tabuchi K. Jun N-Terminal Kinase Inhibitor Suppresses CASK Deficiency-Induced Cerebellar Granular Cell Death in MICPCH Syndrome Model Mice. Cells. 2025; 14(10).

Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a severe neurodevelopmental disorder caused by a deficiency in the X-linked gene calcium/calmodulin-dependent serine protein kinase (CASK). A better understanding of the role of CASK in the pathophysiology of neurodevelopmental disorders may provide insights into novel therapeutic and diagnostic strategies for MICPCH syndrome and other neurodegenerative diseases. To investigate this, we generated CASK knockout (KO) cerebellar granule (CG) cell culture from CASK floxed (CASK(flox/flox)) mice by infecting lentiviruses expressing codon-improved Cre recombinase (iCre). We performed RNA-sequencing (RNA-seq) on these cells and found that CASK-KO CG cells underwent apoptosis by activating intracellular Jun N-terminal kinase (JNK) signaling and upregulating reactive oxygen species (ROS)-related gene expression. We also performed mouse gait analysis and limb clasping behavior experiments on trans-heterozygous CASK-KO and Hprt-eGFP (CASK(+/-) Hprt(eGFP/+)) mice. The CASK(+/-) Hprt(eGFP/+) mice exhibited cerebellar ataxic phenotypes as judged by the scores of these experiments compared to the CASK wild-type control (CASK(+/+) Hprt(eGFP/+)) mice. Interestingly, the administration of the JNK inhibitor, JNK-IN-8, in CASK-KO CG cell cultures increased CG cell survival by reducing ROS generation. Moreover, injection of JNK-IN-8 into the cerebellum of CASK(+/-) Hprt(eGFP/+) mice suppressed CG cell death and alleviated cerebellar ataxic phenotypes in vivo. In conclusion, JNK-IN-8 suppresses the cell death and activation of the ROS pathway in CASK-KO CG cells in both in vitro and in vivo models, suggesting its potential as a therapeutic strategy for cerebellar neurodegeneration in MICPCH syndrome.

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7. Hallajian AH, Dehghani-Arani F, Sima S, Heydari A, Sharifi K, Rahmati Y, Rostami R, Vaziri Z, Salehinejad MA. Theta-Burst Stimulation of the Right Temporoparietal Junction and Implicit Theory of Mind in Autism. Neuromodulation. 2025.

OBJECTIVES: Theory of mind (ToM), or mentalizing, is the ability to attribute mental states to oneself and others and is altered in individuals with autism spectrum disorder (ASD). Recent evidence suggests that implicit rather than explicit ToM is impaired in individuals with ASD. The right temporoparietal junction (rTPJ), which plays a crucial role in ToM, has altered activity in ASD and is a potential terget by noninvasive brain stimulation. MATERIALS AND METHODS: In a randomized single-blind placebo-controlled study, we investigated, for what we believe is the first time, the effects of theta-burst stimulation of the rTPJ on implicit ToM and egocentric bias in 17 adolescents with ASD. Participants (mean age = 13.84 ± 3.32 years) were randomly assigned to three sessions of continuous theta-burst stimulation (cTBS), intermittent theta-burst stimulation (iTBS), and sham stimulation in a counterbalanced order. Stimulation intensity was set to 80% of the active motor threshold during cTBS and iTBS, with the coil centered on the rTPJ (CP6). Immediately after each stimulation, cognitive correlates of ToM, including implicit mentalizing and egocentric bias, were evaluated using the computerized Buzz-lightyear task. RESULTS: Both cTBS and iTBS significantly improved implicit ToM compared with sham stimulation, with cTBS yielding a numerically larger effect (379.2 milliseconds) than did iTBS (191.3 milliseconds), although this difference was not statistically significant. No effect was found on the egocentric bias index. CONCLUSIONS: These findings show a causal link between the rTPJ activation and implicit mentalizing in ASD, suggesting that theta-burst stimulation of this region can be used to enhance ToM in ASD. Targeting the rTPJ may improve implicit mentalizing in ASD and other disorders with impaired ToM.

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8. Hendren RL, Widjaja F. Editorial: Improving outcomes in autism spectrum disorders for adults. Front Psychiatry. 2025; 16: 1615757.

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9. Kawamura A, Fujii K, Tamada K, Abe Y, Nitahara K, Iwasaki T, Yagishita S, Tanaka KF, Takumi T, Takao K, Nishiyama M. Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice. Nat Commun. 2025; 16(1): 4641.

Mutations in the gene encoding chromodomain helicase DNA-binding protein 8 (CHD8) are strongly associated with autism spectrum disorder (ASD). Although duplications of the chromosomal locus including CHD8 have also been detected in individuals with neurodevelopmental disorders, the contribution of CHD8 duplication to clinical phenotypes and the underlying mechanisms have remained unknown. Here we show that Chd8 knock-in (KI) mice that overexpress CHD8 as a model of human CHD8 duplication manifest growth retardation, microcephaly, impaired neuronal differentiation, and behavioral abnormalities including hyperactivity and reduced anxiety-like behavior. Chd8 overexpression affects the transcription and chromatin accessibility of genes related to neurogenesis, with these changes being associated with aberrant binding of CHD8 to enhancer regions. Furthermore, pharmacological intervention partially ameliorates the hyperactivity of Chd8 KI mice. Our results thus indicate that Chd8 KI mice recapitulate key features of CHD8 duplication syndrome in humans, providing insight into pathogenic mechanisms underlying neurodevelopmental disorders.

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10. Kortekaas D, Healy S, Van Damme T, Einarsson I, Burns J, Van Biesen D. Coaching Individuals With Intellectual Disability and/or Autism: Perspectives of Coaches and Physical Education Teachers in Belgium. Adapt Phys Activ Q. 2025: 1-27.

This qualitative study explored the experiences of coaches and physical education teachers, collectively referred to as physical activity (PA) professionals, when coaching individuals with intellectual disability (ID) and/or autism. Furthermore, this study explored the educational resources utilized by PA professionals and their needs in terms of increasing knowledge and skills. Semistructured interviews were conducted with 16 PA professionals active across various contexts (segregation, integration, and inclusion). The interviews were analyzed using reflexive thematic analysis. Coaching individuals with ID and/or autism involves considering multiple factors including their physical abilities and behavioral characteristics, the expectations of parents/caregivers, and coach competence. PA professionals experienced complexities of coaching individuals with ID and/or autism and challenges at interpersonal, sport-specific, and environmental/policy levels expressing a need for more tailored education, hands-on experience with the population, and peer support. These findings can guide the development of tailor-made educational tools for coaches to enhance sport participation for individuals with ID and/or autism.

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11. Legkaya EF, Khodasevich LS, Polyakova AV. [Implementation of adaptive physical education using information and communication technologies – a promising direction in comprehensive rehabilitation and habilitation of children with autistic spectrum disorder. (Literature review)]. Vopr Kurortol Fizioter Lech Fiz Kult. 2025; 102(2): 61-7.

The use of information and communication technologies (ICT) in comprehensive rehabilitation and habilitation of patients with autistic spectrum disorder (ASD) in current conditions seems to be actual, however it is not sufficiently illustrated in the literature to date. OBJECTIVE: To analyze present scientific data on the comprehensive rehabilitation and habilitation of children with ASD by restoring lost or forming absent skills and abilities by adapted physical education using current ICT. MATERIAL AND METHODS: A review of publications on cognitive, motor and social disorders’ correction in children with ASD using ICT presented in the RSCI, PubMed and Google Scholar databases was carried out. The search was performed by the following keywords: autistic spectrum disorder, rehabilitation and habilitation, adapted physical education, information and communication technologies. RESULTS: ICT in the form of technical teaching aids are used, including remotely, at classes of adapted physical education in patients with ASD to develop gross and fine motor skills, improve movements’ coordination, enrich motor experience and increase physical activity, and from the side of higher mental functions – to develop memory, attention, speech and to improve perceptive processes. Physical classes, involving physical and visual contact with others, help patients to develop social interaction with their peers. CONCLUSION: The interest to adapted physical education using ICT motivates children with ASD to improve efficiency both in educational sphere and rehabilitation habilitation measures, allows to increase cognitive, motor and social activities of patients.

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12. Looi MK. Trump watch: RFK Jr delays autism deadline, US cuts global food aid, and more. Bmj. 2025; 389: r1093.

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13. Maggu J, Mohanty S, Sundaravadivel K. Adaptive yoga for psychological health of children having autism spectrum disorder and with intellectual disability: single case experimental design. Sci Rep. 2025; 15(1): 18360.

Children with multiple disabilities have developmental issues in psychological domains. Adaptive yoga tailored to individual abilities promises positive results on children with special needs. This study applies multiple baseline single-case experimental design (SCED) to establish functional relationship between yoga and psychological health of children with autism spectrum disorder (ASD) and intellectual disability (ID). A multiple baseline SCED (AB1B2), with phases (A) baseline without intervention, (B1) intervention in the institute with a yoga teacher and caregiver, and (B2) intervention at home with the caregiver. The experiment was replicated across six children aged 7-12 years with mild ASD and ID. The study assessed the impact of a 180-day adaptive yoga intervention on twelve parameters across cognitive, behavioural, and emotional domains. Assessments were administered using the Indian Scale for Assessment of Autism (ISAA) and Behavioural Assessment Scales for Indian Children with Mental Retardation (BASIC-MR) tools. The study involved caregivers, yoga teacher, and clinical psychologists. The visual analysis established the functional effect of yoga intervention. The effectiveness of impact was supplemented by percentages of non-overlapping pairs and Cohen’s d shows moderate to significant impact among all the participants in at least three instances across psychological domains. The experiment establishes both internal and external validity.Trial registration CTRI/2021/08/035389; DoR: 04/08/2021.

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14. Marsack-Topolewski CN, Hughesdon K, Samuel PS. Differential Levels of Caregiver Burden Among Parents of Adults With Autism. West J Nurs Res. 2025: 1939459251338421.

BACKGROUND: Parents of a child with autism spectrum disorder (ASD) often continue providing care for their children across the lifespan until they are no longer able, which can cause caregiver burden and affect their quality of life (QOL). To date, most of the research focuses on parents of young children with ASD, with only a small body of research on older parents of adults with ASD. OBJECTIVE: The purpose of this study was to determine whether perceived caregiver health, QOL, availability of informal support, and number of formal supports differed by 3 levels of caregiver burden. METHODS: A total of 320 older parents (age ≥50 years) of adults with ASD participated in this cross-sectional survey research study that used multiple analysis of variance (MANOVA) to understand the challenges of caregivers when compared by the perceived levels of caregiver burden. RESULTS: MANOVA indicated that better health, positive QOL, more availability of informal support, and use of fewer formal supports were associated with lower levels of caregiver burden (F(8,614) = 18.48, P < .001, ηp2 = 0.19). CONCLUSION: Given that high caregiver burden was associated with lower caregiver health, QOL, decreased availability of informal support, and greater use of formal supports, nurses and other health professionals should be cognizant that older parents need specialized attention.

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15. McNealis M, Kent J, Paskov K, Dunlap K, Lane J, Phillips B, Armstrong-Brine M, Kralovic S, Dimitropoulos A, Abbeduto L, Wall DP. Identifying understudied correlations between autism & phenotypic attributes in a large family dataset. BMC Psychol. 2025; 13(1): 561.

BACKGROUND: Autism Spectrum Disorder (ASD), a neurodevelopmental condition marked by restricted, repetitive behaviors and social communication difficulties, is one of the fastest-growing pediatric behavioral health concerns in the United States. Long-term outcomes significantly improve with early intervention, but diagnosis and treatment are complicated by the large range of phenotypic presentations that can be moderated by identity factors like gender and culture. Many physical and behavioral characteristics associated with the autism phenotype are not included in the screening and diagnostic instruments used in research. METHODS: We have built a multi-site registry of diverse families with children with autism to collect longitudinal data on their physical and behavioral attributes to study the heterogeneous autism phenotype. Our KidsFirst registry contains 6,951 participants (hereafter « children ») from 4,120 families, 1,865 of which have more than one child. In addition to collecting standard clinical instruments such as the Social Communication Questionnaire (SCQ), we have collected information on the phenotypic attributes of hearing issues, noise sensitivity, vision challenges, irregular sleep, impaired motor skills, metabolic disorders, gastrointestinal (GI) problems, infections, seizures, and premature birth for both ASD and non-ASD children. After validating parent-reported diagnoses against SCQ scores, we analyzed the association of each attribute with the ASD diagnosis and the other attributes using a logistic regression model and permutation tests. RESULTS: Noise sensitivity, impaired motor skills, irregular sleep, GI problems, infections, and seizures attributes were significantly associated with autism diagnosis. These attributes also share correlation structures amongst themselves, suggesting that groupings of attributes may help to define subtypes of autism. LIMITATIONS: The attributes analyzed in this study are not a comprehensive list of suspected traits of autism. Parent-reported diagnoses may not always be accurate, although we validated diagnoses. Despite accounting for family structure in our experiments, the relationships between attributes and diagnosis are likely stronger in the general population because our « control » sample is comprised of biological siblings who may still possess subclinical autistic traits, given the heritability of autism. CONCLUSIONS: A more expansive conceptualization of the autism phenotype is likely to be useful to both researchers and families for identifying a more targeted approach to intervention.

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16. Nazari S, Ramos Cabo S, Nalabolu S, Carter Barnes C, Andreason C, Zahiri J, Esquivel A, Arias SJ, Grzybowski A, Lombardo MV, Lopez L, Courchesne E, Pierce K. Large-scale examination of early-age sex differences in neurotypical toddlers and those with autism spectrum disorder or other developmental conditions. Nat Hum Behav. 2025.

Autism spectrum disorder (ASD) is clinically heterogeneous, with ongoing debates about phenotypic differences between boys and girls. Understanding these differences, particularly at the age of first symptom onset, is critical for advancing early detection, uncovering aetiological mechanisms and improving interventions. Leveraging the Get SET Early programme, we analysed a cohort of 2,618 toddlers (mean age: ~27 months) through cross-sectional, longitudinal and clustering analyses, performed using statistical and machine learning approaches, to assess sex differences in groups with ASD, developmental delay and typical development across standardized and experimental measures, including eye tracking. The results revealed no significant sex differences in toddlers with ASD across 17 of 18 measures, including symptom severity based on the Autism Diagnostic Observation Schedule, receptive and expressive language based on the Mullen Scales of Early Learning and social attention based on the GeoPref eye-tracking test. In contrast, girls with typical development outperformed boys on several measures. Subtyping analyses stratifying toddlers into low, medium and high clusters similarly showed virtually no sex differences in ASD. Overall, our findings suggest that phenotypic sex differences are minimal or non-existent in those with ASD at the time of first symptom onset.

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17. Seese ST, Cohenour T, Seese SK, Gulsrud A, Kasari C. Experience matters: Caregiver interactions with later-born toddlers with autism. Infant Behav Dev. 2025; 80: 102071.

Caregiver-child interactions are critical for supporting early social communication in toddlers showing signs of autism. This study examined whether prior experience parenting an autistic toddler influences how caregivers interact with younger siblings. During a free play interaction, caregivers were rated on the developmental appropriateness and quality of strategies such as: caregiver support for toddler’s dyadic social engagement (e.g., engagement/regulation and use of environmental strategies), imitation and modeling (e.g., turn-taking), and play support (e.g., modulating play to toddler’s level). Additionally, we coded caregiver responsiveness to the toddler’s nonverbal and verbal communication. Specifically, we explored whether caregiver strategy use and responsiveness to toddler communication differed between caregivers who already had an older child with autism and those who did not. Participants were 115 caregiver-toddler dyads (M age = 20 months) showing features of autism, grouped by sibling status: older autistic sibling (EL-Sibs, n = 23), a non-autistic sibling (LL-Sibs, n = 34), or were first-borns (FB, n = 58). Binary logistic regressions examined strategy use and responsiveness, controlling for toddler age, developmental level, toddler ADOS scores, and family annual household income. Sibling status significantly predicted play-related strategies but not dyadic social engagement or imitation/modeling strategies. Caregiver responsiveness was not associated with sibling status; however, child age, developmental level, and higher family income were associated with higher quality responsiveness. Findings suggest that prior autism-related parenting experience may positively shape certain caregiving behaviors with later-born siblings, specifically within play-based interactions.

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18. Selvanayagam T, Hoang N, Sarikaya E, Howe J, Russell C, Iaboni A, Quirbach M, Marshall CR, Szatmari P, Anagnostou E, Vorstman J, Hartley DM, Scherer SW. Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study. J Med Genet. 2025; 62(6): 413-21.

BACKGROUND: Genetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the clinical utility of genetic testing in ASD is demonstrated, the breadth of impact of results can depend on the variant and/or gene being reported. METHODS: We reviewed research results returned to families enrolled in our ASD WGS study between 2012 and 2023. For significant results, we grouped the outcome of each genetic finding into three outcome categories: (1) genetic diagnosis, (2) counselling benefits and (3) support to family. RESULTS: Out of 202 families who received genome sequencing results, 100 had at least one clinically relevant finding related to ASD. With detailed examples, we show that all significant results led to a genetic diagnosis and counselling benefits. CONCLUSION: Our findings show the relevance of genome sequencing in ASD and provide illustrative examples of how the information can be used.

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19. Shazman S, Carmel J, Itkin M, Malitsky S, Shalan M, Soreq E, Elliott E, Lebow M, Kuperman Y. Urine Metabolomic Profiling and Machine Learning in Autism Spectrum Disorder Diagnosis: Toward Precision Treatment. Metabolites. 2025; 15(5).

BACKGROUND: Autism spectrum disorder (ASD) diagnosis traditionally relies on behavioral assessments, which can be subjective and often lead to delayed identification. Recent advances in metabolomics and machine learning offer promising alternatives for more objective and precise diagnostic approaches. METHODS: First-morning urine samples were collected from 52 children (32 with ASD and 20 neurotypical controls), aged 5.04 ± 1.87 and 5.50 ± 1.74 years, respectively. Using liquid chromatography-mass spectrometry (LC-MS), 293 metabolites were identified and categorized into 189 endogenous and 104 exogenous metabolites. Various machine learning classifiers (random forest, logistic regression, random tree, and naïve Bayes) were applied to differentiate ASD and control groups through 10-fold cross-validation. RESULTS: The random forest classifier achieved 85% accuracy and an area under the curve (AUC) of 0.9 using all 293 metabolites. Classification based solely on endogenous metabolites yielded 85% accuracy and an AUC of 0.86, whereas using exogenous metabolites alone resulted in lower performance (71% accuracy and an AUC of 0.72). CONCLUSION: This study demonstrates the potential of urine metabolomic profiling, particularly endogenous metabolites, as a complementary diagnostic tool for ASD. The high classification accuracy highlights the feasibility of developing assistive diagnostic methods based on metabolite profiles, although further research is needed to link these profiles to specific behavioral characteristics and ASD subtypes.

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20. Tkalcec A, Baldassarri A, Junghans A, Somasundaram V, Menks WM, Fehlbaum LV, Borbàs R, Raschle N, Seeger-Schneider G, Jenny B, Walitza S, Cole DM, Sterzer P, Santini F, Herbrecht E, Cubillo A, Stadler C. Gaze behavior, facial emotion processing, and neural underpinnings: A comparison of adolescents with autism spectrum disorder and conduct disorder. J Child Psychol Psychiatry. 2025.

BACKGROUND: Facial emotion processing deficits and atypical eye gaze are often described in individuals with autism spectrum disorder (ASD) and those with conduct disorder (CD) and high callous unemotional (CU) traits. Yet, the underlying neural mechanisms of these deficits are still unclear. The aim of this study was to investigate if eye gaze can partially account for the differences in brain activation in youth with ASD, with CD, and typically developing youth (TD). METHODS: In total, 105 adolescent participants (N(CD) = 39, N(ASD) = 27, N(TD) = 39; mean age = 15.59 years) underwent a brain functional imaging session including eye tracking during an implicit emotion processing task while parents/caregivers completed questionnaires. Group differences in gaze behavior (number of fixations to the eye and mouth regions) for different facial expressions (neutral, fearful, angry) presented in the task were investigated using Bayesian analyses. Full-factorial models were used to investigate group differences in brain activation with and without including gaze behavior parameters and focusing on brain regions underlying facial emotion processing (insula, amygdala, and medial prefrontal cortex). RESULTS: Youth with ASD showed increased fixations on the mouth compared to TD and CD groups. CD participants with high CU traits tended to show fewer fixations to the eye region compared to TD for all emotions. Brain imaging results show higher right anterior insula activation in the ASD compared with the CD group when angry faces were presented. The inclusion of gaze behavior parameters in the model reduced the size of that cluster. CONCLUSIONS: Differences in insula activation may be partially explained by gaze behavior. This implies an important role of gaze behavior in facial emotion processing, which should be considered for future brain imaging studies. In addition, our results suggest that targeting gaze behavior in interventions might be potentially beneficial for disorders showing impairments associated with the processing of emotional faces. The relation between eye gaze, CU traits, and neural function in different diagnoses needs further clarification in larger samples.

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21. Wilkinson CL, Chung H, Dave A, Tager-Flusberg H, Nelson CA. Changes in Early Aperiodic EEG Activity Are Linked to Autism Diagnosis and Language Development in Infants With Family History of Autism. Autism Res. 2025.

Delays in language often co-occur among toddlers diagnosed with autism. Despite the high prevalence of language delays, the neurobiology underlying such language challenges remains unclear. Prior research has shown reduced EEG power across multiple frequency bands in 3-to-6-month-old infants with an autistic sibling, followed by accelerated increases in power with age. In this study, we decompose the power spectra into aperiodic (broad band neural firing) and periodic (oscillations) activity to explore possible links between aperiodic changes in the first year of life and later language outcomes. Combining EEG data across two longitudinal studies of infants with and without autistic siblings, we assessed whether infants with an elevated familial likelihood (EFL) exhibit altered changes in both periodic and aperiodic EEG activity at 3 and 12 months of age, compared to those with a low likelihood (LL), and whether developmental change in activity is associated with language development. At 3 months of age (n = LL 59, EFL 57), we observed that EFL infants have significantly lower aperiodic activity from 6.7 to 55 Hz (p < 0.05). However, change in aperiodic activity from 3 to 12 months was significantly increased in infants with a later diagnosis of autism, compared to EFL infants without an autism diagnosis (n = LL-NoASD 41, EFL-noASD 16, EFL-ASD 16). In addition, greater increases in aperiodic offset and slope from 3 to 12 months were associated with worse language development measured at 18 months (n = 24). Findings suggest that early age-dependent changes in EEG aperiodic power may serve as potential indicators of autism and language development in infants with a family history of autism.

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22. Yin W, Reichenberg A, Schnaider Beeri M, Levine SZ, Ludvigsson JF, Figee M, Sandin S. Risk of Parkinson Disease in Individuals With Autism Spectrum Disorder. JAMA Neurol. 2025.

IMPORTANCE: Recent research suggests a plausible biological link between autism spectrum disorder (ASD) and Parkinson disease (PD). Nonetheless, large longitudinal studies examining the risk of PD following ASD are lacking. OBJECTIVE: To examine the association between ASD and future PD risk. DESIGN, SETTING, AND PARTICIPANTS: A nationwide population-based prospective cohort study was performed using data from Swedish national registers. All individuals born in Sweden from 1974 to 1999 with follow-up from age 20 years until December 31, 2022, and with complete covariate data were included. The analysis was completed in August 2024. EXPOSURES: Diagnoses of ASD as a time-varying exposure obtained from the National Patient Register. MAIN OUTCOMES AND MEASURES: Diagnoses of PD were obtained from the National Patient Register through 2022. The relative risk (RR) of PD was quantified using incidence rate ratios with 95% CIs from Poisson regression. Preterm birth, depression, antidepressant use, and antipsychotic exposure over time were potentially modifying life events. RESULTS: The study included 2 278 565 individuals (median [IQR] age at exit, 34 [29-42] years; 1 106 772 female [48.6%]), contributing 33 858 476 person-years. PD occurred in 438 of 2 226 611 individuals without ASD (0.02%; 1.3 cases/100 000 person-years) and 24 of 51 954 individuals with ASD (0.05%; 3.9 cases/100 000 person-years) (RR, 4.43 [95% CI, 2.92-6.72]). The risk estimates were similar after adjusting for sex, socioeconomic status, family history of mental illness, family history of PD, and age at ASD diagnosis. Preterm or early-term birth was not associated with and did not modify the PD risk. Depression and antidepressant use (present in 24 257 individuals with ASD [46.7%]) were associated with increased risk of PD (RR, 2.01 [95% CI, 1.40-2.88]), independent of ASD. Antipsychotic exposure (present in 16 387 individuals with ASD [31.5%]) reduced but did not fully attenuate the association (RR, 2.00 [95% CI, 1.27-3.14]) and showed no interaction with ASD on PD risk. CONCLUSIONS AND RELEVANCE: ASD was associated with increased risk of PD, even after adjusting for depression or antidepressant use and antipsychotic exposure. These findings suggest a potential shared etiology between neurodevelopmental disorders and PD, and a heightened awareness of long-term neurological conditions in individuals with ASD may be warranted.

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23. Zhang Z, Aggarwal V, Angelov P, Jiang R. Modeling Brain Aging with Explainable Triamese ViT: Towards Deeper Insights into Autism Disorder. IEEE J Biomed Health Inform. 2025; Pp.

Machine learning, particularly through advanced imaging techniques such as three-dimensional Magnetic Resonance Imaging (MRI), has significantly improved medical diagnostics. This is especially critical for diagnosing complex conditions like Alzheimer’s disease. Our study introduces Triamese-ViT, an innovative Tri-structure of Vision Transformers (ViTs) that incorporates a built-in interpretability function, it has structure-aware explainability that allows for the identification and visualization of key features or regions contributing to the prediction, integrates information from three perspectives to enhance brain age estimation. This method not only increases accuracy but also improves interoperability with existing techniques. When evaluated, Triamese-ViT demonstrated superior performance and produced insightful attention maps. We applied these attention maps to the analysis of natural aging and the diagnosis of Autism Spectrum Disorder (ASD). The results aligned with those from occlusion analysis, identifying the Cingulum, Rolandic Operculum, Thalamus, and Vermis as important regions in normal aging, and highlighting the Thalamus and Caudate Nucleus as key regions for ASD diagnosis.

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