Pubmed du 20/06/25
1. Agarwalla S, Yuvarani MS, Bandyopadhyay S. Alterations in the ultrasonic vocalization sequences in pups of an autism spectrum disorder mouse model: A longitudinal study over age and sex. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 139: 111372.
Social communication deficit is a hallmark of autism spectrum disorders (ASDs). Mouse ultrasonic-vocalizations (USVs), with communicative significance, are extensively used to probe vocalization-based social communication impairment. Despite the predictable nature of mouse USVs, very few studies have taken advantage of the same. The current work explores USV pup-isolation-call (PIC) features and alterations in structural content of predictive PIC sequences of the well-established in-utero valproic-acid (VPA) exposure-based ASDs model. Our study shows that along with call features, even higher-order USV structures undergo alterations in the ASDs model at all developmental ages and sexes. Confirming prior observations, we found reduced call rates and durations, as well as heightened peak frequencies in ASD model pups. Our data also highlights trends in call features, syllable composition, and transitions across sexes and age. The ASD female mice exhibited higher within group heterogeneity in syllable composition and transition over age compared to ASD males or typically developing males and females. Analysis of sequences of USVs emitted by pups using mutual information between syllables at different positions revealed that dependencies between syllables were higher in typically developing mice of both sexes compared to ASD model pups. In brief, we found that PICs call features were altered in VPA mouse models both for male and female pups and their vocalizations lack the complex syllable sequence order emitted by typically developing ones. Our studies will help establish and further investigate ASD mouse models to get a clearer picture of abnormalities related to social communication deficits over sexes and age.
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2. Akhtar M, Nashwan AJ. Evaluating Wharton’s jelly-derived stem cell therapy in autism: Insights from a case study. World J Methodol. 2025; 15(2): 100074.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder affecting over 2% of the global population, marked by social communication deficits and repetitive behaviors. Kabatas et al explored the efficacy and safety of Wharton’s jelly-derived mesenchymal stem cell (WJ-MSC) therapy in a 4-year-old child with ASD. Using the childhood autism rating scale and Denver II developmental screening test, significant improvements were seen after six WJ-MSC sessions, with no adverse events over 2 years. Despite promising results, the study’s single-case design limits generalizability. Larger, multi-center trials are needed to validate the findings and assess long-term effects of WJ-MSC therapy in ASD.
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3. Benz F, Hanna S, Harvey NC, Vollmer B, Köster M, Villar J, Fernandes M. Early neurophysiological markers of aberrant auditory processing associated with increased risk of autism spectrum disorder: A systematic review. Pediatr Investig. 2025; 9(2): 191-200.
IMPORTANCE: There is a lack of reliable early diagnostic criteria for autism spectrum disorder (ASD), despite earlier diagnosis leading to better outcomes. OBJECTIVE: To evaluate the association of aberrant auditory processing (AAP) as a potential early marker of ASD risk in children under 2 years old. METHODS: A systematic review of studies published between 1985 and September 2024 was conducted by searching PubMed and Web of Science. RESULTS: The review encompassed 18 studies with 140 231 participants, and a majority (76%) of these studies found evidence that early neurophysiological changes in auditory processing are associated with later ASD risk. Specifically, prolonged auditory brainstem response (ABR) latency, reduced social stimuli selectivity, and poorer auditory brain connectivity were correlated with ASD status in later childhood. Notably, auditory habituation did not differ significantly with ASD risk. It’s important to recognize that the evidence was somewhat limited by heterogeneity, small sample sizes, and inadequate reporting. INTERPRETATION: This review identified three early neurophysiological AAP markers associated with ASD risk: ABR latency, social stimuli selectivity, and auditory brain coherence. These markers show potential for aiding in earlier ASD risk assessment in young children, potentially leading to earlier interventions. However, to fully establish the association of these AAP markers with ASD as a reliable screening tool during early childhood, future research should focus on standardized experimental protocols and adequately powered prospective cohort studies.
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4. Bierlich AM, Scheel NT, Koehler JC, Bloch C, Plank IS, Falter-Wagner CM. Attenuated behavioral interpersonal synchrony in autistic adults is not explained by perception of timing. Sci Rep. 2025; 15(1): 20157.
Attenuated interpersonal synchrony (IPS) has been shown between autistic individuals and their interaction partners; however, the mechanisms of this attenuation remain unclear. One possibility could lie in perceiving the timing of others’ behaviors. The present study aimed to relate the behavioral production of IPS with the perception of temporal dynamics of social interactions and event timing perception in autistic and non-autistic adults. Autistic and non-autistic participants engaged in naturalistic conversations with a non-autistic stranger, who was naïve to the participant’s diagnostic status. Behavioral IPS was computed using automatic video-based analysis. Participants reported their experiences of perceived IPS with the partner, as a measure of the perceived temporal dynamics of the social interaction. A perceptual simultaneity task measured the perception of event timing in a nonsocial context. Bayesian linear mixed models were used to evaluate the effects of perceived IPS ratings and simultaneity thresholds on behavioral IPS. Expectedly, behavioral IPS was reduced for dyads including an autistic adult. Neither perceived IPS ratings, nor simultaneity thresholds, were associated with reduced behavioral IPS for dyads with or without an autistic adult. These findings hint that attenuated behavioral IPS may not result from atypical perceived timing of others’ behaviors or event timing perception.
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5. Brittenham C, Wagner JB, Westendorf A, Tager-Flusberg H, Nelson CA. Differing patterns of face processing in infants at elevated likelihood of autism. Infant Behav Dev. 2025; 80: 102097.
Typical development shows early biases in face attention during infancy, characterized by face inversion effects and increased attention to the left side of the face. In autism spectrum disorder (ASD), face scanning patterns often differ, with reduced inversion effects and left-side biases. The current study examined inversion effects, side biases, and pupil responses in EL and TL infants at 7, 10, and 13 months using linear mixed modeling. TL infants showed greater looking to the left side of the face than EL infants both over the full trial duration and in the 500-1000 ms trial window. Also, in the 500-1000 ms window, a significant left versus right side difference was observed only in the TL group. Pupil responses revealed an interaction between group and age, with EL infants showing a larger pupil size increase over time. These findings suggest that elevated ASD likelihood may be linked to early face-processing differences, such as reduced left gaze bias and greater pupil increases in infancy. Further research is necessary to determine if these patterns are specific to faces or reflect broader atypicalities in hemispheric asymmetry and autonomic function, and how these differences may contribute to later emerging features of ASD.
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6. Chow T, Meng Q, Xiao J, O’Sharkey K, Liew Z, Ritz B. Age, Race, and Ethnicity of Maternal Grandparents in Autism Spectrum Disorder, a California Multigenerational Study. Autism Res. 2025.
We investigated associations between maternal grandparents’ age and autism spectrum disorders (ASD) in grandchildren, exploring differences by race/ethnicity. In a multigenerational California birth cohort study including 1,743,998 and 1,630,722 mother-child pairs (with 27,975 and 25,816 ASD cases, respectively), we examined ASD risk by grandmother’s and grandfather’s age at the time when their daughter was born. Logistic regression was used to obtain odds ratios (ORs) and 95% CIs. The odds of ASD in grandchildren were higher among White grandmothers (OR, 1.14; 95% CI, 1.08-1.20) and grandfathers (OR, 1.18; 95% CI, 1.11-1.25) who had daughters at younger ages (18-24 years) compared to the 25-29 year reference, while inverse associations were observed for younger Black grandmothers (OR, 0.85; 95% CI, 0.78-0.94). At older ages (35-55 years), ASD risks were higher among Hispanic grandmothers (OR, 1.13; 95% CI, 1.06-1.21) and Hispanic (OR, 1.12; 95% CI, 1.06-1.18) and Black grandfathers (OR, 1.18; 95% CI, 1.05-1.32). The risk of ASD in grandchildren was higher among older grandparents of several races/ethnicities but among the youngest grandparents only among those of White race. Differences by race/ethnicity may imply different mechanisms operating in younger and older grandparents. Studies exploring the contributions of biological as well as social, occupational, and environmental factors on the influence of age at pregnancy with ASD are needed.
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7. Denisova K, Wolpert DM. Protocol to investigate sensorimotor features in young children with autism using functional and resting-state fMRI data from the NIMH Data Archive. STAR Protoc. 2025; 6(2): 103827.
Head movements cause artifacts in infant neuroimaging that can often render acquired data unusable. Here, we present a protocol that harnesses head motion from fMRI and resting-state (rs)-fMRI NIMH Data Archive (NDA) data to obtain quantitative measures of sensorimotor function in young children and associate them with future cognitive and autism outcomes. We describe steps for downloading, organizing, and pre-processing fMRI data to yield data on in-scan head motion. We then detail procedures for preparing phenotypic data to link with sensorimotor data. For complete details on the use and execution of this protocol, please refer to Denisova and Wolpert.(1).
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8. Dufault RJ. Biomarkers for tracking metabolic changes pre-post nutritional epigenetics diet/intervention to prevent autism and attention deficit/hyperactivity disorders in children. World J Exp Med. 2025; 15(2): 101555.
The prevalence of autism and attention deficit/hyperactivity disorders is increasing worldwide. Recent studies suggest the excessive intake of ultra-processed food plays a role in the inheritance of these disorders via heavy metal exposures and nutritional deficits that impact the expression of genes. In the case of the metallothionein (MT) gene, biomarker studies show dietary zinc (Zn) deficits impact MT protein levels in children with autism and are associated with the bioaccumulation of lead and/or mercury in children exhibiting autism/attention deficit/hyperactivity disorders symptomology. The impact of dietary changes on lead and mercury exposures and MT gene behavior could be determined using a randomized test and control group design. Pregnant women serving in the test-group would participate in a nutritional epigenetics education intervention/course designed to reduce ultra-processed food intake and heavy metal levels in blood while increasing whole food intake and MT and Zn levels. Changes in maternal diet would be measured using data derived from an online diet survey administered to the test and control groups pre-post intervention. Changes in maternal lead, mercury, Zn, and MT levels would be measured via blood sample analyses prior to the intervention and after childbirth via cord blood analyses to determine infant risk factors.
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9. Fox J. The Impact of Intersectional Disadvantage on Autistic Women’s Experiences of Interpersonal Violence: A Narrative Review. Autism Adulthood. 2025; 7(3): 249-60.
The social factors that impact autistic women’s vulnerability to interpersonal violence are underexplored within research about their experiences. The current literature review examines research about the experience of interpersonal violence for autistic women to develop a better understanding of the social factors that underpin this issue. Autistic women experience social exclusion and inequality in connection to their intersectional position as both a gender and neuro-minority group. This intersectional disadvantage contributes to the elevated rate of interpersonal violence that autistic women experience. Autistic women experience gendered forms of interpersonal violence, which are connected to inequality in accessing appropriate supports and the detrimental impacts of masking. Autistic women also face intersectional stigma associated with being both autistic and victim-survivors of interpersonal violence, which is a significant barrier to their engagement with support services. The issue of interpersonal violence and the intersectional factors that underpin this for autistic women should therefore be approached as a complex social issue rather than one of individual vulnerability.
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10. Galvin J, Aguolu P, Amos A, Bayne F, Hamza F, Alcock L. Self-Compassion, Camouflaging, and Mental Health in Autistic Adults. Autism Adulthood. 2025; 7(3): 324-32.
BACKGROUND: Previous research shows that symptoms of anxiety and depression are positively correlated with camouflaging and negatively correlated with self-compassion in autistic adults. However, no study to date has considered the inter-relationships between autistic traits, camouflaging, self-compassion, and mental health in autistic adults. METHODS: In this study, autistic adults (n = 294) completed demographics (sex, age, and ethnicity), the Autism Spectrum Quotient, the Camouflaging Autistic Traits-Questionnaire, the Self-Compassion Scale, the Generalized Anxiety Disorder-7 Scale, the Patient Health Questionnaire-9 and the Liebowitz Social Anxiety Scale. RESULTS: We found a negative correlation between social camouflaging and self-compassion (r (partial) = -0.483, p < 0.001). Serial mediation analyses revealed that camouflaging and self-compassion may indirectly influence the association between autistic traits and mental health outcomes both independently and through each other. CONCLUSIONS: The findings of this research provide greater insight into the mental health experiences of autistic adults and can inform the development of tailored interventions that target camouflaging and self-compassion. Community brief “Why is this an important issue?” Many autistic people are diagnosed with mental health conditions such as anxiety or depression. Previous research has shown that camouflaging and self-compassion are related to these mental health outcomes. The identification of possible intervention targets to improve mental health is important to effectively support autistic adults. “What was the purpose of this study?” The purpose of this study was to first establish whether there is a relationship between camouflaging autistic traits and levels of self-compassion, and, if there is, to examine the processes through which these variables may influence social anxiety, general anxiety, and depression. “What did the researchers do?” We designed an online survey and asked autistic adults to complete this survey. The participants responded to a series of questionnaires measuring personal information (sex, age, ethnicity, and health diagnoses), as well as their levels of autistic traits, social camouflaging, self-compassion, and three mental health outcomes: social anxiety, general anxiety, and depression. In total, 294 autistic adults completed the survey. “What were the results of the study?” We found a relationship between self-compassion and camouflaging, such that individuals who camouflaged more reported lower self-compassion. We also found that the connection between camouflaging and self-compassion could play an important role in how autistic traits are linked to mental well-being. “What do these findings add to what was already known?” Previous studies have investigated self-compassion and camouflaging in autistic people separately, but no study to date has looked at them together. The statistical analyses that we carried out showed that levels of self-compassion and camouflaging may influence the relationship between autistic traits and mental health outcomes. Specifically, this relationship appears to work both ways, meaning that camouflaging behaviors and self-compassion might have an influence on each other, influencing the overall relationship between autistic traits and mental health. “What are potential weaknesses in the study?” The study has several potential weaknesses related to the online survey design and how we collected the data. We were unable to conduct diagnostic assessments to confirm the participant's autism diagnosis and relied on their self-reported diagnosis. Also, the data were collected at one point in time, which makes it more difficult to determine the direction of the relationships between the variables. “How will these findings help autistic adults now or in the future?” This study provides a more nuanced understanding of the relationships between camouflaging one's autistic traits, self-compassion, and mental health outcomes. Importantly, we have presented preliminary evidence that self-compassion and camouflaging in combination might influence mental health outcomes. This supports our proposal to develop therapeutic interventions that target both these variables to promote the mental well-being of autistic adults. eng.
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11. Garcia-Molina I, Cortés-Calvo M. « Until I Had My Son, I Did Not Realise That These Characteristics Could Be Due to Autism »: Motherhood and Family Experiences of Spanish Autistic Mothers. Autism Adulthood. 2025; 7(3): 303-11.
BACKGROUND: Knowledge is sparse regarding the motherhood experiences and family relationships of autistic women. Few studies use a qualitative approach to afford autistic mothers (and want-to-be-mothers) a voice. This is an analysis of the experiences of Spanish autistic mothers presented from their perspectives. METHODS: Nine autistic mothers responded to open-ended questions and verbalized their experiences of maternity and family relationships in writing or orally. Data obtained were analyzed using a qualitative thematic analysis. RESULTS: We developed four main themes about the participants’ experiences: (1) autistic mothers were diagnosed after their autistic children (or close relatives) received their diagnosis; (2) role of the nuclear family (partner and children); (3) the influence of sensory processing on coexistence with the partner, and upbringing of the children, of autistic mothers; and (4) the influence of anxiety on coexistence with the partner, and upbringing of the children, of autistic mothers. Their experiences showed that the mother’s autism diagnosis can follow the diagnosis of an autistic child and highlighted the importance of a good relationship with their partners and children during the process, increasing their self-acceptance (Themes 1 and 2). Also, the influence of sensory reactivity and anxiety intensified many aspects of their maternity and relations, from pregnancy to intimate experiences (Themes 3 and 4). CONCLUSIONS: In conclusion, there is a need for greater understanding and awareness about the characteristics of autistic mothers in the Spanish context, so that family members or health care professionals could provide better individualized care for them-from their pregnancy to the upbringing of their children.
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12. Gholamalizadeh H, Baradaran Rahimi V, Askari VR. Orphan G Protein-Coupled Receptors: A Novel Research Frontier in Autism and Associated Disorders. Arch Pharm (Weinheim). 2025; 358(6): e70018.
G-protein coupled receptors (GPCRs) are a diverse group of membrane proteins crucial for transmitting extracellular signals into cells, regulating numerous neurological processes. Among GPCRs, orphan receptors, whose natural ligands and functions remain unidentified, have garnered increasing research attention. Olfactory receptors (ORs), the most diverse GPCR family, are widely expressed in the central nervous system (CNS) and are implicated in autism spectrum disorder (ASD) and related behavioral and psychiatric conditions. This review highlights the altered expression of specific orphan and olfactory GPCRs-such as RORα, RORβ, GPR37, GPR62, OR1C1, and OR52M1-and their roles in ASD development. It explores their mechanisms of action, neural network interactions, and contributions to ASD etiology, as well as associated disorders like ADHD, schizophrenia, epilepsy, anxiety, depression, and sleep disorders. The review also addresses challenges in orphan GPCR research, such as identifying ligands and understanding their physiological roles, while emphasizing their potential as therapeutic targets. By summarizing preclinical and clinical findings, this review underscores the emerging significance of orphan receptors in ASD, offering a foundation for future research to advance understanding and develop innovative treatments for autism and related conditions.
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13. Goodwin J, Gordon I, O’Keeffe S, Carling S, Berresford A, Bhattarai N, Heslop P, Nielsen E, O’Connor RC, Ogundimu E, Pelton M, Ramsay SE, Rodgers J, Townsend E, Vale L, Wilson C, Cassidy S. Adapting Safety Plans for Autistic Adults with Involvement from the Autism Community. Autism Adulthood. 2025; 7(3): 293-302.
BACKGROUND: Autistic adults are at greater risk of self-harm and suicide than the general population. One promising intervention in the general population is safety planning. We aimed to seek advice from autistic adults and others in the autism community on how to adapt safety plans for autistic adults. METHODS: We conducted focus groups with autistic adults (n = 15), family members (n = 5), and service providers (n = 10), about their views of the Autism Adapted Safety Plan (AASP). We also conducted interviews about the acceptability of the AASP with autistic adults who had developed an AASP (n = 8) and with service providers who had supported them (n = 8). We analyzed the focus group and interview transcripts using thematic analysis. RESULTS: Theme 1 highlights conditions needed to make the process of creating the AASP acceptable for autistic adults. This included creating the AASP with someone they could trust and at the right place and time, when they were not in distress or in crisis. Theme 2 describes how safety planning needed to be a creative, flexible, and iterative process. Autistic adults may need help in expressing their emotions and identifying coping strategies, which can be supported through visual resources and suggestions from the service provider. To ensure that the AASP is accessible in times of crisis, it needs to meet the autistic adults’ preferences in terms of formatting and how it is stored (i.e., hard copy or electronic). CONCLUSIONS: The AASP is a potentially valuable intervention for autistic adults, provided that the process of creating it is flexible and sensitive to individual needs. Further testing of the AASP to assess its clinical effectiveness in reducing suicidal behavior could provide a life-saving intervention for autistic adults. CLINICAL TRIAL REGISTRATION NUMBER: ISRCTN70594445, Protocol v4: 8/2/22. Community brief Why is this an important issue? Autistic adults are at risk of self-harm and suicide, yet there are no approaches specifically for autistic adults to reduce their risk of self-harm and suicide. What was the purpose of this study? We wanted to explore how developing a document called a safety plan might be useful for autistic people if it was designed with advice from autistic adults and others in the autism community. A person creates their own safety plan document. This safety plan includes a person’s own list of steps that can be used when they are in distress or crisis. The steps are: (1) Warning Signs that a crisis may be about to occur; (2) Coping Strategies that might help; (3) Social Contacts and Locations that might help; (4) Family Members or Friends that might help; (5) Professional support that might help; and (6) How to Keep the Environment Safe. What did the researchers do? We conducted interviews and group discussions with autistic adults, family members, and service providers about what they thought of an Autism Adapted Safety Plan and how it could be improved to make it more helpful for autistic people. What were the results of the study? We learnt that it was important that autistic adults had a supporter they felt able to trust to help them to develop their safety plan. The safety plan needed to be done at the right time, when they were not in distress or in crisis. The safety plan also needed to be flexible based on the autistic adult’s needs and preferences. Autistic adults told us they sometimes needed help identifying things that they could do that they could include in their plan to help them to feel less distressed. They told us that using pictures and symbols might help them express their needs and that people supporting them could make suggestions to help them identify things that might help. It was important for the safety plan to fit the person’s preferences for layout, color, text and images, and options for either paper or electronic format to make the safety plan accessible in times of crisis. What do these findings add to what was already known? Before this study, we knew that autistic people are more likely to experience self-harm, suicidal thoughts, and behaviors than non-autistic people. However, no studies had yet explored whether approaches developed to reduce self-harm and suicide in non-autistic people could also be useful for autistic people. Ours is the first study to ever explore whether safety plans could be useful for autistic adults, and how they could be adapted to meet the unique needs of autistic adults. Our findings suggest that Autism Adapted Safety Plans may help autistic adults who are experiencing self-harm and suicidal thoughts. What are potential weaknesses in the study? We do not know whether the views of participants in this study are the same as the views of other autistic people. This means further work will be needed with more autistic people to see whether these views are shared. How will these findings help autistic adults now or in the future? These findings will allow the Autism Adapted Safety Plan to be further refined based on the feedback provided by participants in this study. Then, the plan could be used in future studies to find out if it helps autistic adults who are experiencing distress. eng.
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14. Hassib L, Kanashiro A, Pedrazzi JFC, Vercesi BF, Higa S, Arruda Í, Soares Y, de Jesus de Souza A, Barichello T, Guimarães FS, Ferreira FR. Microbiota-based therapies as novel targets for autism spectrum disorder: A systematic review and meta-analysis. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 139: 111385.
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social interaction and communication. Emerging evidence suggests that alterations in the gut-brain axis play a key role in the pathophysiology of ASD, and that microbiota-targeted interventions may offer therapeutic benefits. However, no clear consensus has been reached regarding the effectiveness of these strategies in ameliorating behavioral characteristics. This systematic review and meta-analysis (PROSPERO registration ID: CRD42023494067) aimed to evaluate the impact of microbiota-based interventions-including synbiotics, prebiotics, single-strain probiotics, probiotic blends, and fecal microbiota transplantation (FMT)-on behavioral outcomes in individuals with ASD, with particular emphasis on social functioning. RESULTS: Of the 373 records initially identified, 20 studies met the inclusion criteria, comprising 16 randomized controlled trials and 4 open-label studies. The overall effect size indicated a statistically significant improvement in ASD-related behavioral symptoms following microbiota manipulation (Hedges’ g = 0.47; 95 % CI: 0.30-0.64; p < 0.001; I(2) = 33.01 %), representing a small but clinically relevant effect. Heterogeneity was classified as moderate. Among the interventions, FMT and probiotic blends yielded the most substantial effects. All major limitations of the current studies were thoroughly addressed and discussed to guide future experimental designs. Additionally, we examined preclinical evidence supporting the involvement of neural, immune, and metabolic pathways in mediating the observed behavioral improvements. CONCLUSIONS: Our findings support the potential of microbiota-based therapies as a promising and well-tolerated strategy for improving behavioral symptoms in individuals with ASD. FMT and multi-strain probiotic formulations appear particularly effective. Nevertheless, further high-quality randomized controlled trials-especially involving FMT-are urgently needed to validate these results and guide clinical implementation. Thus, these findings provide a critical foundation for future investigations seeking to refine microbiota-based interventions and uncover the underlying mechanisms through which they influence ASD-related behaviors.
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15. Hotez E, Hudson S, Choi KR, Kuo AA. Integrating Antiracism and Life Course Frameworks in Research with Autistic Minority Transition-Aged Youth and Young Adults. Autism Adulthood. 2025; 7(3): 229-37.
Racial and ethnic minority autistic transition-aged youth and young adults (TAYA) experience a range of barriers to optimal health, development, and thriving. These barriers are related to challenges associated with this distinct developmental period, as well as experiences linked to their multiple marginalized intersectional identities. Currently, there is a need for additional research that can spur the development and dissemination of critical supports for this population. In the current perspective, we call on researchers to integrate two established frameworks for: (1) antiracism research (i.e., the Public Health Critical Race Praxis [PHCR] model) and (2) sensitivity to developmental transitions (i.e., the life course health development [LCHD] model). Together, the PHCR and LCHD models offer a practical guide to conceptualize research with this population. We discuss how the central tenets of these models apply to minority autistic TAYA, propose overarching recommendations to researchers, and highlight existing and promising approaches that reflect these recommendations. Community brief Why is this topic important? There is a need to better understand racial and ethnic minority autistic young adults (age 18–28 years) through research. This article will help researchers study this population and emphasizes applicability and action for health care providers, policymakers, and other contributors. What is the purpose of this article? This article discusses two theories from the research and how they might be helpful for racial and ethnic minority autistic young adults. The first one—called the “Public Health Critical Race Praxis Model”—emphasizes the need to consider the important role of race and racism in the lives of autistic racial and ethnic minority autistic young adults. The second one—called the “Life Course Health Development Model”—emphasizes that young adults experience the world differently from adolescents and older adults, and it is important to consider these differences when supporting this population. What personal or professional perspectives do the authors bring to this topic? Dr. Hotez’s research focuses on supporting autistic individuals across the life course—particularly young adults—as well as supporting other communities who often experience discrimination or stigma. Dr. Hudson is an expert in racial equity and founder of the Hood Medicine Initiative, which seeks to improve the health of Black individuals and communities. Dr. Choi is a child and adolescent psychiatric nurse and researcher with expertise in autism and equity across the life course. Dr. Kuo is the Chief of Medicine-Pediatrics at University of California, Los Angeles and has an expertise in supporting autistic young adults in her clinic and in her research. All authors have a personal lived experience or connection to the topic of this article. What is already known about this topic? The transition between adolescence and adulthood (age 18–28 years) is often a time of significant change in health care, education, employment, and in relationships. This time may be particularly difficult for autistic individuals who experience unique barriers—including stigma and discrimination—in these areas. Racial and ethnic minority autistic young adults often experience even more challenges, as they may encounter additional barriers related to accessing and utilizing important services and supports. They may also experience additional discrimination and stigma related to racism. What do the authors recommend? We recommend that researchers study the specific ways in which race and racism can affect autistic individuals during the important period of young adulthood. We also recommend that researchers study their experiences in health care, education, employment, relationships, and in other circumstances and emphasize application and action for nonresearchers. Researchers can ensure that their work is helpful to racial and ethnic minority autistic young adults by working with this population in developing their studies. How will these recommendations help autistic adults now or in the future? We hope that these recommendations will lead to better studies, which will lead to the creation of more helpful supports and services for this population. eng.
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16. Hull L, Rane S, Lee SH, Sedgewick F. « Just Ask What Support We Need »: Autistic Adults’ Feedback on Social Skills Training. Autism Adulthood. 2025; 7(3): 283-92.
BACKGROUND: Social skills training (SST) is an intervention intended to support the development of social communication and interaction for autistic people, often through role-play, modeling, peer mediation, or group activities. While often targeted at autistic children, adults may also be offered SST following diagnosis. Evaluations of SST generally focus on social and behavioral outcomes, with little consideration for participants’ experience of the intervention. This study was the first to seek the perspectives of autistic adults regarding their previous experiences of SST in childhood or adulthood. METHODS: We interviewed a total of 11 autistic adults (5 male, 5 female, and 1 agender) from the United Kingdom online. Interviews were semi-structured and focused on participants’ previous experiences of SST and how they felt it could be improved. We analyzed data using reflexive thematic analysis. RESULTS: Autistic adults wanted support around social communication and life skills, which they felt was not always provided through SST. Participants suggested that SST should be personalized and accessible as and when needed. Support through autistic peers and trained neurotypicals was particularly valued. Some emphasized the need for non-autistic people to receive training on how to socialize with autistic people. Some participants also reported negative experiences of SST or felt that it was not necessary. CONCLUSIONS: Current SST provision in the United Kingdom does not always meet the needs of autistic adults. Services providing SST should consider personalizing their support options and ensure that autistic adults are involved in the design and delivery of SST. Some autistic people may not want or need SST, and it should be integrated to a broader range of support options. Community brief Why is this an important issue? Social skills training is a broad term for support offered to help people with social communication and interaction. Many autistic people are offered social skills training after they are diagnosed, but we do not know much about whether they think it is useful. What was the purpose of this study? To learn about autistic adults’ experiences of social skills training. What did the researchers do? We interviewed 11 autistic adults and asked about their previous experiences of social skills training. We asked about what they wanted from social skills training, what had been useful, and what they think needs to be improved. What were the results of the study? Participants felt that social skills training was most useful when it was interactive and personalized to their specific needs. They wanted social skills training as part of a broader package of support for mental health, learning about autism, and meeting other autistic people. Participants felt that social skills training helped them learn more about their autism, but sometimes they were being told to hide parts of themselves. Participants also suggested that everyone would benefit from social skills training, whether or not they are autistic. What do these findings add to what was already known? Most research evaluating social skills training has focused on children’s behavior or social skills as evaluated by non-autistic adults. We now know that some autistic people also feel like they can benefit from social skills training, but the way that it is currently run might not be always helpful. Our participants had lots of suggestions for ways to improve social skills training. What are potential weaknesses in the study? We only interviewed autistic adults in the United Kingdom, so their experiences may not be the same as people using social skills training in other parts of the world. Also, our participants were mostly diagnosed as teenagers or adults, so the training they took part in might be different from that offered to younger children. How will these findings help autistic adults now or in the future? We can use the suggestions given by these participants to improve the way social skills training is delivered, so that it is more useful for autistic people in the future. The findings also suggest that social skills training should be offered to everyone, rather than just to autistic people, which might help reduce stigma experienced by autistic people. eng.
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17. Jain A, Dhir N, Prabha PK, Raja A, Sharma AR, Kaundal T, Charan S, Singh H, Singla R, Malik D, Bhatia A, Banerjee D, Saikia B, Zohmangaihi D, Goyal MK, Medhi B, Prakash A. Restoring Brain Function in Autism: GSK3β Inhibition by 6-Bromoindirubin-3′-oxime Reverses Valproic Acid-induced Neuropathology. ACS Chem Neurosci. 2025.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social deficits, restricted interests, and repetitive behaviors. Although aripiprazole and risperidone are FDA-approved for ASD, they primarily target comorbid symptoms and are associated with significant side effects. This study aimed to investigate the effects of 6-bromoindirubin-3′-oxime (6BIO), a glycogen synthase kinase 3β (GSK3β) inhibitor, in a VPA model of ASD. Pregnant Wistar rat dams received a single intraperitoneal (ip) injection of VPA (600 mg/kg) or an equal volume of saline on GD 12.5. Offspring prenatally exposed to VPA showed impairments in early age observations, such as nervous reflex, motor coordination, sensory function, and developmental milestones. On postnatal day (PND), 23 male and female offspring were separated and randomly assigned to receive either risperidone (2.5 mg/kg, po) or 6BIO (15 or 30 μg/kg, ip) daily until PND 82. Systemic postnatal administration of 6BIO dose-dependently ameliorated anxiety-like behavior, exploratory, social deficit, repetitive behavior, spatial cognition, recognition memory, motor coordination, gastrointestinal motility, brain edema, and blood-brain barrier functions. Furthermore, chronic 6BIO postnatal treatment significantly attenuated VPA-induced neuronal damage in the prefrontal cortex, hippocampus, and cerebellum. 6BIO also significantly suppressed the upregulated cytosolic GSK3β phosphorylation, as determined by immunohistochemistry and Western blotting. Additionally, 6BIO modulated mRNA expression levels of Wnt, CHD8, SHANK3, GAD65, and 67, and transcriptional factors such as β-catenin and NLGN3 were altered by prenatal VPA exposure. In conclusion, these findings suggest that 6BIO may exert neuroprotective effects via GSK3β inhibition, indicating its potential as a candidate compound for therapeutic intervention in ASD.
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18. Koteyko N, Van Driel M, Billan S, Barros Pena B, Vines J. Stigma Management Strategies of Autistic Social Media Users. Autism Adulthood. 2025; 7(3): 273-82.
BACKGROUND: Research on stigma management strategies in autism relies on questionnaires or experiments, leading to a gap in understanding of how to identify the strategies in naturalistic interactions. The identification of individual (adapting minority group characteristics) and collective (positively redeveloping the in-group) stigma management strategies in online communication is important for understanding how to improve the quality of social media experiences for autistic users. METHODS: Using linguistic analysis and engaging with ethnographic perspectives on relationship management, this article develops a novel approach to the identification of individual and collective stigma management strategies of autistic social media users. We combine online observation and interviews with 34 autistic social media users with a corpus-assisted analysis of their posts, divided into two groups according to regular or limited mentions of autism. RESULTS: We show that posts in the first group focus on information provision and exchange and include markers of shared understanding and community building as part of a collective strategy. Interviews with the authors reveal a strong sense of autistic identity and highlight the importance of staying true to one’s specific communicative preferences. Posts in the second group are characterized by tentative language (e.g., « seem » and « not sure ») as a way of avoiding social threats by users who report uncertainty and anxiety about misinterpretation of their messages. CONCLUSIONS: We show that autistic social media users have specific preferences in how they communicate and express connection online. However, due to negative experiences of social interactions some do not follow these preferences and instead select linguistic and visual resources that can reduce perceived risks of misunderstanding. We question the claims that the internet is inherently enabling for autistic users and call for further research and policy effort to ensure autistic sociality rights in all digital environments. Community brief Why is this an important issue? Autistic people often change their behavior to fit in with nonautistic social environment (thereby “camouflaging” their differences), in person and online. The internet is also a place where autistic people interact with each other and build community. However, research on these online behaviors is mostly focused on conscious actions people can recall when answering survey questions. What was the purpose of this study, and what did the researchers do? We wanted to find out whether it is possible to identify both community building strategies and camouflaging from the language used on social media, as some behaviors may happen without people realizing it. This article uses a method called digital linguistic ethnography to study how 34 autistic adult social media users managed the way they are seen online. The method involved observing where and how participants posted messages and comparing the frequency of word use between participants who regularly mentioned autism in their posts and those who did not. We also interviewed participants about their social media experiences and motivations. What were the results of the study? The results show that participants who mentioned autism used language in specific ways to raise awareness and connect with others. Participants who did not mention autism used more tentative language (e.g., “might,” “seem,” and “not sure”) and worried about being misunderstood. What do these findings add to what was already known? The findings are important as they show that autistic people have specific preferences in how they communicate and express connection on social media. The findings also show that some autistic adults may feel unable to follow these preferences when interacting online, which contradicts previous assumptions that autistic people do not need to mask in online environments. What are the potential weaknesses of the study? Although our participants exhibited a range of internet skills, they may represent a subgroup that is particularly inclined toward social media usage and interaction. This means that our findings may not apply for autistic adults with learning difficulties, for example. Our sample also includes only speaking individuals without the history of intellectual disabilities, which means that that the experiences of nonspeaking autistic people are not represented. How will these findings help autistic adults now or in the future? The findings inform our understanding of what kinds of social media situations make autistic people feel like they fit in or feel uncomfortable. This is important for designing online environments that are inclusive of autistic communicative preferences and have the potential to improve the quality of online social experiences for autistic people. eng.
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19. Liu Q, Lai H, Le J, Lan C, Zhang X, Huang L, Xu D, Jiang X, Li F, Kendrick KM, Zhao W. Identifying brain functional subtypes and corresponding task performance profiles in autism spectrum disorder. Mol Psychiatry. 2025.
Refining the classification of autism spectrum disorder (ASD) subtypes is essential for advancing personalized interventions strategies, given the substantial heterogeneity in phenotypic clinical symptoms among individuals with ASD. Thus, the current study integrated normative modeling, resting-state fMRI data, clinical assessment, and eye-gaze patterns to investigate potential ASD subtypes. By incorporating both static and instant dynamic (strength and variability) functional connectivity as predictive variables within the normative models, we aimed to delineate multi-level functional developmental trajectories. Our comprehensive analysis of 1046 participants (479 with ASD, 567 typical development) identified two distinct neural ASD subtypes with unique functional brain network profiles despite comparable clinical presentations. One ASD subtype was characterized by positive deviations in the occipital network and cerebellar network, coupled with negative deviations in the frontoparietal network, default mode network, and cingulo-opercular network. Conversely, the other subtype exhibited an inverse pattern of functional deviations across these networks. Furthermore, an independent cohort of 21 ASD individuals revealed that these neural subtypes were also associated with distinct gaze patterns assessed by two autism-sensitive eye-tracking tasks focused on preference for social cues. These findings emphasize the complexity and heterogeneity of ASD, uncovering the presence of neurobehavioral subtypes that extend beyond simple neural variations and manifest in diverse functional developmental patterns and behavioral presentations. This study underscores the importance of adopting personalized intervention strategies that cater to the individual needs of each person, rather than relying on a standardized, one-size-fits-all approach, despite the presence of similar clinical symptoms.
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20. Merrington H, Gibbs V, Haas K, Clark T, Robinson A, AlAnsari M, Pellicano E. What Matters Most? An Exploration of Quality of Life Through the Everyday Experiences of Autistic Young People and Adults. Autism Adulthood. 2025; 7(3): 312-23.
BACKGROUND: The quality of life (QoL) of Autistic people is consistently reported to be poor compared with the general population. Little is known, however, about how Autistic people experience QoL from their perspectives and the ways they would like it to be enhanced. This qualitative study, conducted in collaboration with Autistic people, sought to understand how Autistic young people and adults define a good life and what helps and hinders them from achieving a good QoL. METHODS: We conducted semi-structured in-depth interviews with 34 Autistic adults and 14 Autistic adolescents about their everyday life experiences of different aspects of QoL, including physical health, sensory needs, mental health, money, home, transport, leisure, social connections, acceptance, and inclusion, being in charge of one’s life and perceptions of the future. We coded transcripts in NVivo and analyzed them using reflexive thematic analysis. RESULTS: We identified four themes: two themes that described what a good QoL meant for our participants along with aspects of their lives that facilitated a good QoL: « feeling good » and « being myself in the world »; and two themes that described barriers to achieving a good QoL: « exhaustion and overwhelm » and « negative experiences shape perceptions. » DISCUSSION: These findings highlight the need to consider Autistic people’s QoL within the context of their everyday realities. Enhancing QoL will only be achieved through focusing on these realities and through the provision of adaptations and supports to create more inclusive environments. Community brief Why is this an important issue? Previous research has found that Autistic people have a poor quality of life. However, most of this research has been based on what non-Autistic people think a good quality of life looks like. If we want to improve the lives of Autistic people, we need to know what a good life means to them and what helps, or stops, them having the lives they want. What was the purpose of this study? The researchers wanted to hear about the day-to-day experiences of Autistic people so that they could better understand what is most important to them and how to find ways to help them have a good quality of life. What did the researchers do? The researchers conducted interviews with 34 Autistic adults and 14 Autistic adolescents about their everyday experiences. They asked about their health, mental health, work or school life, relationships, and hopes for the future. The research team included Autistic and non-Autistic researchers. These interviews were online or via written responses depending on what participants wanted. What were the results of the study? We looked at what participants told us and found four ideas or “themes.” Two of the themes described what a good quality of life meant for our participants and two were about aspects of their lives that led to poor quality of life. Our participants told us that their quality of life was positively influenced by feeling good about themselves and being accepted for who they are. They also told us that everyday life, like doing domestic chores, dealing with challenges with sensory information and social situations, led them to feel exhausted and overwhelmed, and made their quality of life worse. They felt that acceptance of the ways Autistic people choose to live their lives would improve their quality of life. What do these findings add to what was already known? This research adds to our understanding of Autistic people’s quality of life from their perspectives. It emphasizes the need to shift away from preconceived notions of a “good life” for Autistic individuals, particularly in terms of work and relationships. The study also provides new insights into why Autistic people might experience challenges and value various aspects of their everyday lives. What are potential weaknesses in the study? This was quite a small group of Autistic adults and adolescents, all of whom lived in Australia and where most adolescents were male. How will these findings help autistic adults now or in the future? By better understanding the quality of life of Autistic adults and adolescents, services and supports can be designed to help Autistic people achieve personally meaningful life goals. eng.
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21. O’Connor E, Treyvaud K, Green CC, Green J, Iacono T, Maybery M, Segal L, Slonims V, Varcin KJ, Wan MW, Whitehouse A, Hudry K. Caregiver broader autism phenotype does not moderate the effect of early caregiver-mediated support on infant language outcomes. Infant Behav Dev. 2025; 80: 102093.
Caregiver-mediated supports in general have shown mixed evidence for enhancing language outcomes in infants at higher likelihood of autism. While caregivers play a substantial role in caregiver-mediated supports, little is known about whether caregivers’ own subclinical autistic features – known as broader autism phenotype (BAP) – may moderate infant language outcomes. In secondary analysis of trial data, we examined whether caregiver BAP moderated the effectiveness of the iBASIS caregiver-mediated support program (received when infants were mean aged 12-18 months) for infant language outcomes (measured on parent-reported and direct assessment of receptive and expressive language). While lower caregiver BAP was linked to increased parent-reported infant vocabulary growth in general terms, it did not actually moderate the effect of the caregiver-mediated support program on those infant language outcomes. In relative terms therefore, infants of caregivers with both higher and lower BAP benefited equally from this support on parent-report compared to the comparison group. Caregiver BAP is associated with slower vocabulary growth in infants, but caregivers with autistic features can be recommended for this caregiver-mediated video-feedback based program, as their infants benefitted from such support.
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22. Ramirez AC, Montenegro MC, Villalobos BT, Cañada NF, Nuñez GG, Calderon R, Kantor SP, Mares M, Ortiz M, Noel G, Montiel-Nava C. Cultural and Linguistic Adaptation of an Autism Parent Mediated Intervention for Spanish Speaking Latinos. J Autism Dev Disord. 2025.
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23. Tassone AU, Breitenfeldt KE, DeLucia EA, Albright J, McDonnell CG. A Pilot Study of Political Experiences and Barriers to Voting Among Autistic Adults Participating in Online Survey Research in the United States. Autism Adulthood. 2025; 7(3): 261-72.
BACKGROUND: Political participation is an important and meaningful aspect of civic engagement for adults. Existing research suggests that disabled people face barriers to political engagement. However, very little is known regarding how Autistic adults engage in politics in the United States. METHODS: Participants included 276 self-consenting Autistic adults (including those with a diagnosis and self-identified) and 361 non-autistic adults. Participants completed an online survey regarding political attitudes, barriers to voting, engagement methods, and affective experiences between December 2020 and January 2021. RESULTS: The majority of self-consenting Autistic adults in this online sample were registered to vote and identified themselves as part of the Democratic party and as very liberal. On average, Autistic adults most strongly supported policies surrounding disability rights and education. Overall, Autistic adults experienced greater barriers to voting than non-autistic adults. When adjusting for demographic differences across groups, the strongest group differences were that Autistic adults reported greater barriers to voting due to mental health difficulties, fear of crowds, and fear of leaving the house. Autistic adults engaged in politics more through social media outlets and through signing petitions relative to non-autistic adults, but reported engaging less through watching political debates, watching the news, and reading about politics in print newspapers, although effects were not maintained after adjusting for demographic differences. When asked about the current political climate, Autistic adults reported higher negative emotions (feeling upset, nervous, and afraid) than non-autistic adults. Demographic factors (age, gender, and income) related to political experiences. CONCLUSION: Results of this study suggest self-consenting Autistic adults face significant barriers to voting and have unique experiences related to political participation. Future research to improve and support political participation among Autistic adults is a critical research priority. Community brief Why is this an important issue? Disabled people experience many barriers to voting. Specifically, we do not know much about the experiences of Autistic adults when voting. Therefore, we need to know how Autistic adults participate in politics in the United States, to help Autistic adults to engage in politics how they want to. What was the purpose of this study? The purpose of this study was to describe how Autistic adults participate in politics, including their voting history, political viewpoints, and what policies they care most about. The researchers also looked at whether Autistic adults differed from non-autistic adults in barriers to voting, how they participate in politics, and how they feel when thinking about politics. What did the researchers do? The researchers had both Autistic and non-autistic adults complete an online survey. What were the results of the study? Most Autistic adults were registered to vote and said they identified as part of the Democratic party and as very liberal. Autistic adults said they experience greater barriers to voting compared with non-autistic adults. They also reported engaging more in politics on social media and through signing petitions, but said they watched debates, watched the news, and read newspapers less often than non-autistic adults. Autistic adults had more negative feelings (feeling upset, nervous, and afraid) toward current politics than non-autistic adults. We also found that Autistic adults in this study differed from non-autistic adults on some demographic characteristics, such as age, gender, race or ethnicity, and income. When we accounted for these differences across groups, Autistic adults still had greater barriers to voting and more negative feelings about politics. However, Autistic adults did not report engaging in politics differently from non-autistic adults anymore. Demographic factors also were connected to these political experiences, meaning that a person’s age, gender, and income may be related to the voting barriers they face, their methods of participation, and their feelings about politics. What do these findings add to what was already known? These findings provide information about how Autistic adults experience and participate in politics. Similar to previous research on disabled populations, these findings suggest that Autistic adults face more barriers to voting and feel more negative emotions relating to politics than non-autistic adults. They also may engage in politics in different ways from non-autistic adults. What are potential weaknesses in the study? This study only used an online survey to collect information, so results may not apply to all Autistic people. How will these findings help Autistic adults now or in the future? These findings help Autistic adults by highlighting their unique experiences, along with drawing attention to major barriers to voting. Learning more about Autistic adult experiences may help inform political outreach efforts and help make sure all voices are heard in the democratic process. eng.
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24. Toolan C, Singer H, Freeman S, Paparella T, Elias R, Tsvetovat M, Lord C. Online coding of the Brief Observation of Social Communication Change (BOSCC) to capture treatment response in minimally verbal children with autism spectrum disorder. Digit Health. 2025; 11: 20552076251347105.
The Brief Observation of Social Communication Change (BOSCC) measures subtle changes in social communication behaviors in children with autism spectrum disorder (ASD). In this brief communication, we examine an online platform that was developed to streamline BOSCC coding and support the development of machine learning-based automatic coding. This study found online coding was comparable to manual coding, capturing social communication changes among children receiving ASD intervention. This advancement offers an efficient alternative to paper-and-pencil coding methods, increasing access and usability of this innovative measure.
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25. van der Schaaf R, Murphy VE, Harvey S, Dent P, Lane A, Whalen O. The Association Between Maternal Asthma and Child Autism: A Systematic Review and Meta-Analysis. Autism Res. 2025.
Maternal asthma has been linked to child autism. In this study, we systematically reviewed observational studies published between July 2001 and February 2024 that assessed maternal asthma during pregnancy (exposure) and child autism (outcome). Databases searched included MEDLINE, CINAHL, EMBASE, and PsycINFO. Of the 350 potential studies, 19 met the inclusion criteria (2,530,716 participants; 73,065 autistic participants). Quality was assessed with the Newcastle-Ottawa Scale. Meta-analyses using proportions and odds ratios were conducted using the Mantel-Haenszel method with a random-effects model. Compared to women without asthma, there was an increased odds of child autism with any history of maternal asthma (OR = 1.32; 95% CI = 1.21, 1.44; I(2) = 61%, n = 14), with current asthma during pregnancy (OR = 1.23; 95% CI = 1.12, 1.35; I(2) = 35%, n = 10) and with medication use during pregnancy (OR = 1.48; 95% CI = 1.30, 1.68; I(2) = 0%, n = 3). However, when women with asthma who used asthma medication were compared to those with asthma who did not use medication, there were no increased odds for child autism (OR = 1.07; 95% CI = 0.89, 1.27; I(2) = 34%, n = 2). Maternal asthma is associated with an increased odds of child autism. Future studies should consider neurodivergence in the parents, the severity of asthma, and the effectiveness of prescribed medication in managing the mother’s asthma to improve our understanding of this association. Trial Registration: PROSPERO registration: CRD42021265060.
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26. Verbesselt J, Breckpot J, Zink I, Swillen A. Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion. J Neurodev Disord. 2025; 17(1): 33.
BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS.
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27. Wang H, Ding L, Mao ZH, Du Y, Han QM, Xu JY, Peng FF, Li HF, Zou CC. Metabolomic analysis of blood spots in a Chinese cohort with autism spectrum disorders: a pilot study. Metab Brain Dis. 2025; 40(6): 230.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component that is becoming increasingly prevalent. The identification of plasma molecular biomarkers may provide potential insights into ASD and aid in early diagnosis. In this study, we characterized the metabolomic profiles of ASD children using blood spot samples collected at the Children’s Hospital of Zhejiang University School of Medicine from children with ASD (n = 43) and typically developing (TD) children (n = 43). Our results highlight differences between children with ASD and TD controls. We identified possibly associations between ASD and a variety of metabolites, including carnosine (Car), glutaric acid, histidine (His), succinic acid, tryptophan, glutamine (Gln), asparagine, guanidinoacetic acid, sarcosine, kynurenine, glutamic acid (Glu) and cysteine (Cys). Metabolic pathway analysis demonstrated a possible imbalance in the amino acid metabolism of Glu/Gln, Car/His in ASD children. These findings may provide new insights into the molecular mechanisms that influence ASD risk and have possibility for the discovery of biomarkers.
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28. Waters DK, Baranek GT, Glenn E, Riehl H, DeMoss L, Dawson G, Carpenter KLH. Unique and shared influences of anxiety and ADHD on the behavioral profile of autism in early childhood. Front Child Adolesc Psychiatry. 2025; 4: 1585507.
INTRODUCTION: Autism is characterized by a wide range of core and associated behavioral features that can be influenced by co-occurring conditions such as attention-deficit hyperactivity disorder (ADHD) and anxiety disorders. Executive function difficulties are proposed as a common feature of autism and ADHD and are also evident in persons with anxiety disorders. However, little is known about how anxiety disorders or ADHD differentially impact executive functioning or how these difficulties may influence the presentation of core and associated autistic features in young children. In the current study, we explored the unique executive function difficulties associated with co-occurring anxiety and/or ADHD and elucidated how they differentially impact the clinical presentation of autism in young children. METHODS: We assessed 69 autistic children, aged 3 to 5 years. Anxiety and ADHD were assessed through parent interview using the Preschool Age Psychiatric Assessment (PAPA). Executive functions were assessed using the Behavior Rating Inventory of Executive Function – Preschool Version (BRIEF-P). Core autistic features were measured with the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and additional features were measured with the Restricted and Repetitive Behaviors Scale, Revised (RBS-R) and the Sensory Experiences Questionnaire (SEQ). Using an additive main effect general linear model, we examined the unique contributions of an anxiety disorder and/or ADHD on core and associated autistic features as well as executive function. Mediation analyses explored the contribution of the executive function profiles to specific features of autism. RESULTS: Results showed that greater difficulty with attentional shifting was uniquely associated with anxiety, whereas greater difficulty inhibiting behavioral responses was uniquely associated with ADHD. Attentional shifting mediated the relationship between anxiety and ritualistic behaviors, sameness behaviors, sensory hyper-responsivity, and overall autistic features. Conversely, inhibitory control mediated the relationship between ADHD and both irritability and self-injurious behaviors. DISCUSSION: These findings implicate components of executive functioning as important cognitive processes associated with co-occurring psychiatric conditions in autism. Future research should investigate the impact of early intervention for executive function difficulties on psychiatric and neurodevelopmental outcomes in autistic children.
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29. Willems K, Loveall SJ, Goodrich JM, Lang D. Correlation Between Emergent Literacy Skills and Reading Abilities in Young Autistic Children: A Meta-Analysis. Lang Speech Hear Serv Sch. 2025: 1-17.
PURPOSE: Autistic individuals often exhibit poorer emergent literacy skills (e.g., phonological awareness, print knowledge, oral language) relative to their non-autistic peers. Although emergent literacy skills are known to impact future reading success in typical development, their relationship with word recognition and reading comprehension in autistic children remains unclear. The purpose of this meta-analysis was to identify the correlation between emergent literacy skills and reading abilities (i.e., word recognition and reading comprehension) in young autistic children. METHOD: Fourteen correlational studies, including 837 autistic children ranging in age from 28 to 109 months, met the inclusion criteria. Robust variance estimation was used to compute an average weighted effect size, and possible moderator variables were also explored. RESULTS: Results indicated a significant, positive correlation between emergent literacy skills and reading abilities. Moderator analyses indicated that the correlations between emergent literacy and reading ability did not differ based on the type of reading ability (i.e., word recognition vs. reading comprehension) or emergent literacy skill (i.e., code- vs. meaning-based skills). However, IQ was a marginally significant moderator, and the relation between emergent literacy and reading ability was stronger in studies with participants with lower average IQ scores. CONCLUSIONS: These findings have important implications for research and practice for young autistic children. There is a need for educators and other practitioners to (a) assess emergent literacy skills in early childhood to better identify autistic children who are at risk for reading difficulties and (b) actively promote and teach emergent literacy skills in young autistic children, as these skills are related to more advanced reading abilities. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.29231057.
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30. Zhao X, Zhu S, Cao Y, Cheng P, Lin Y, Zhai T, Yan W, Li Y, Jiang W, Hong W, Du Y. Investigating Resting-State Brain Activity in Adolescents with High-Functioning Autism Spectrum Disorder: Linking Fractional Amplitude of Low-Frequency Fluctuation to Clinical Symptoms. J Autism Dev Disord. 2025.