1. Bizzari V, Schnitzler T, Fuchs T. EAIE-Scale-The Examination of Autistic Intersubjective Experiences. A qualitative tool to the exploration of sociality. Psychopathology. 2025: 1-17.

INTRODUCTION: The Examination of Autistic Intersubjective Experiences is a semi-structured interview aimed at a phenomenological exploration of experiential and subjective ways of dealing with sociality. METHODS: As a qualitative study, this work can be understood in continuity with EASE (Examination of Anomalous Self Experience [1] and EAWE (Examination of Anomalous World Experience, [2]. While these models focus on anomalies of selfhood and experience of the external world respectively, this semi-structured interview focuses instead on the divergent ways dealing with intersubjective experience and on the difficulties that people with a diagnosis of autism experience in the social domain. CONCLUSION: The advantages are both theoretic and practical: from a philosophical perspective, it will be interesting to observe how intersubjectivity works. From a clinical perspective, the collected data will be useful both for clinicians and caregivers, allowing them to better understand and cope with the autistic subject, and favor the communication between different social styles.

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2. Cartwright L, Scerif G, Oliver C, Beggs A, Stockton J, Wilde L, Crawford H. Genetic determinants of longitudinal behavioural trajectories in rare conditions: The case of fragile X syndrome. Behav Brain Res. 2025; 485: 115527.

Despite being a monogenic condition, individual variability in the phenotypic profile of fragile X syndrome (FXS) is substantial, with behavioural outcomes differing in severity and frequency. Existing studies have revealed that common variation in 5-HTTLPR (serotonin) and COMT (dopamine) single nucleotide polymorphisms (SNPs) is associated with behavioural variation in FXS when measured cross-sectionally. However, the associations between SNPs and longitudinal behavioural trajectories in FXS remain unknown. This study explored relationships between three SNPs, selected a priori (5-HTTLPR, COMT and monoamine oxidase A (MAOA)), and trajectories of clinically relevant behaviours in 42 males with FXS. Autistic characteristics, property destruction, aggression, stereotyped behaviour, self-injury, repetitive behaviour, and mood/interest and pleasure were measured at two time points across three years via a series of standardised informant questionnaires. DNA was extracted from saliva samples and a combination of PCR and TaqMan genotyping was performed for genetic confirmation of FXS, and COMT, 5-HTTLPR and MAOA analyses. Results revealed that males with FXS with AA COMT genotype were less likely to display persistent stereotyped behaviour compared to AG or GG genotypes. Participants with the S/S 5-HTTLPR genotype displayed a steeper decline in repetitive and stereotyped behaviours compared to the L/S or L/L genotypes. Participants with the three-repeat MAOA genotype demonstrated a steeper decline in communication skills over three years compared to those with four repeats. This study documents the association between common genetic variation and behavioural trajectories in males with FXS. Results suggest specific SNPs play an important role in longitudinal behavioural patterns in FXS. This work may facilitate an understanding of individual trajectories for people with FXS, and, therefore, support future tailored interventions.

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3. Esqueda Villegas F, van der Steen S, Minnaert A. First-Hand Experiences of Autistic Students About Teacher Autonomy Support, Structure, and Involvement: A Video-Stimulated Recall (Interview) Study. J Autism Dev Disord. 2025.

Opportunities for children and adolescents to share their views in society and research remain scarce, especially in terms of their first-hand learning experiences. This problem extends to autism research, where the voices of autistic people are under-represented. Therefore, this study investigated the classroom experiences of autistic students in mainstream secondary schools in the Netherlands and Mexico, focusing on their perceptions of teachers’ autonomy-support, structure, involvement and classroom interactions. Using video-stimulated recall (VSR) interviews, we recorded 13 students’ thoughts and emotional reactions while viewing two of their videotaped lessons. The data were analyzed qualitatively using both deductive and inductive approaches to provide a narrative of the aspects that autistic students reported affected their learning. Autistic learners had varied reactions to autonomy support, but they all valued different types of structure provided by their teachers, which increased their confidence in achieving goals (i.e. completing a task) and provided a sense of mastery. In particular, fear of making mistakes, especially due to negative reactions from classmates, was a recurring problem for autistic students. Teachers who were approachable, understanding and supportive made a significant difference for these students. Finally, autistic participants relied on both the teacher and peer interactions to gain clarity on tasks and move forward. Our findings highlight fundamental issues that all secondary school teachers could consider in their daily practice. We propose that VSR method can serve as a solid basis for conducting interviews with autistic youth and move towards a more inclusive approach in autism research.

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4. Hendry M, Byres L, Austin J. Autistic perspectives on the moral and ethical considerations of genetic testing for autism. Eur J Hum Genet. 2025.

This study aimed to characterize the nuanced perspectives expressed by Autistic adults about genetic testing for autism. In this secondary analysis of an existing dataset, we used inductive content analysis of free-text responses that Autistic adults wrote in response to questions asking about perceptions of genetic testing for autism that had been included in a previous survey. Participants who completed the survey had been recruited online. Three-hundred eighty-nine participants wrote a total of 28,774 words in response to the questions of interest. While some respondents wrote about potential benefits of genetic testing (79/389), more (333/389) wrote about potential negative outcomes of genetic testing. Participants wrote about concerns of eugenics (281/389), described a lack of trust in how genetics information would be used (125/389), and raised concerns that genetic testing could increase discrimination (66/389). This is the largest study to date to conduct an in-depth analysis of Autistic adults’ opinions on genetic testing for autism. Most respondents raised serious concerns. Additional work is needed to collect more Autistic opinions about genetic testing for autism.

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5. Jobin A, Suhrheinrich J, Oliver K, Chan J, Stahmer AC. Evaluation of a Supervisor Toolkit to Support Autism Provider Use of Pivotal Response Training. J Autism Dev Disord. 2025.

Research emphasizes the importance of fidelity assessment in the delivery of evidence-based interventions for autistic children, but it is underutilized in community settings. There is a need for effective tools supporting provider training and fidelity measurement within usual care autism services. The purpose of this study was to examine the feasibility, acceptability, and impact of a supervisor training suite to support community-based provider use of a naturalistic behavioral intervention, Pivotal Response Training (PRT). This study applied a nonconcurrent multiple baseline design to evaluate the feasibility, acceptability, and impact of a supervisor toolkit including a PRT intervention fidelity assessment tool and accompanying package of coaching, feedback, and implementation strategies for supporting provider training. Supervisors (n = 5), providers (n = 17), and autistic children (n = 17) participated in the study. Results indicate high levels of adherence to and satisfaction with the Toolkit. Supervisor training in the Toolkit was effective for supporting most providers in successfully using more difficult PRT components and had varied impact on provider implementation of PRT overall. This study contributes to the literature on effective professional development strategies for training providers in evidence-based naturalistic behavioral interventions. The integration of training in the use of a fidelity tool, with planning, coaching, and implementation strategies to support the process, may improve training quality and warrants further research.

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6. Lin Y, Chen G, Lu H, Qin R, Jiang J, Tan W, Luo C, Chen M, Huang Q, Huang L, Dong A, Qin J. Inequality and heterogeneity in medical resources for children with autism spectrum disorders: a study in the ethnic minority region of southern China. BMC Public Health. 2025; 25(1): 1677.

BACKGROUND: In recent years, medical interventional treatment for children with autism spectrum disorder (ASD) has been gradually introduced in medical institutions in the Guangxi Zhuang Autonomous Region in southern China. However, the allocation of these medical resources has been uneven. This study describes the spatial allocation of medical resources for children with ASD in Guangxi, evaluates their supply and utilization, and expounds on their correlations with socioeconomic and demographic conditions. METHODS: This study was based on a special survey conducted from 2021 to 2022 by the Guangxi Disabled Rehabilitation Research Center. The number of medical institutions for children with ASD (MIIs), average number of ASD technicians per 10,000 target people (CTPP), and coverage rate of medical interventions (CMI) were set as dependent variables, while population density, proportion of town residents, total retail sales of consumer goods, disposable income per capita gross domestic product per capita (GDPpc), and number of enterprises above designated size were set as independent variables, all of which were included in the spatial statistical model. The main analysis methods was multiscale geographically weighted regression (MGWR). RESULTS: The allocation of MIIs (Moran’s I = 0.119, p = 0.007), CTPP (Moran’s I = 0.208, p = 0.017), and CMI (Moran’s I = 0.251, p = 0.004) in Guangxi showed significant spatial autocorrelation. The medical resources formed high-value hot spots in major districts of core cities, while the medical resources were scarce in some remote ethnic minority counties and densely populated areas in southeastern Guangxi. MIIs showed significant spatial correlations with population density (EV=-0.225, p = 0.001), proportion of town residents (EV = 0.255, p = 0.002), total retail sales of consumer goods (EV = 0.806, p < 0.001), and disposable income per capita (EV=-0.267, p < 0.001). CTPP showed significant correlations with population density (EV = 0.211, p = 0.019), GDPpc (EV = 0.267, p = 0.002), total retail sales of consumer goods (EV = 0.382, p < 0.001), and number of enterprises above designated size (EV=-0.242, p = 0.005). CMI showed a significant association with proportion of town residents (EV = 0.415, p < 0.001), total retail sales of consumer goods (EV = 0.273, p = 0.006), and number of enterprises above designated size (EV=-0.236, p = 0.003). CONCLUSIONS: The spatial allocation of medical resources for children with ASD in Guangxi is heterogeneous, and correlates varyingly with regional socioeconomic conditions as well as urbanization and demographic conditions.

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7. Looi MK. Trump watch: Planned Parenthood sues Trump, autism registry sparks fear, RFK Jr calls for vitamin combination treatments, and more. Bmj. 2025; 389: r916.

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8. Ouardouz M, Jasinski P, Khalife M, Mahoney JM, Hernan AE, Scott RC. Hippocampal-prefrontal functional neural networks in a rat model of fragile X syndrome are poorly organized with limited resiliency. Sci Rep. 2025; 15(1): 16089.

Fragile X Syndrome (FXS) is a common cause of autism spectrum symptoms. The genetic mutation results in multiple molecular alterations that are hypothesized to negatively impact neural circuit development although the nature of any functional neural dynamic consequences remain unclear. Therefore, the characteristics of hippocampal-prefrontal (H-PFC) network dysfunction were investigated in a rat model of FXS. FMR-KO and control rats underwent behavioral tests assessing sociability, memory, and anxiety to validate and replicate previously recognized deficits. Single-unit electrophysiology in the H-PFC circuit during exploration was used to measure patterns of action potential firing that were then compared between groups using generalized linear mixed models. FMR-KO rats demonstrated significant behavioral deficits in sociability, spatial learning, and anxiety. These rats also exhibited abnormal firing patterns outside of times when specific behavioral tasks were being performed. The network firing is less precise, more fragmented and with poor H-PFC communication in FXS. These findings suggest that disruptions in ‘exploration’ neural network dynamics impair the ability of networks to be appropriately engaged during specific behavioral tasks, leading to the observed deficits in social behavior, memory, and anxiety.

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9. Parra A, Jimenez-Estrada JA, Vásquez-Amell V, Cazalla M, Rodríguez-Canó M, Gallego-Zazo N, Miranda L, Mora-Gómez M, Vallespín E, Mena R, Fernández L, Silván C, Arias P, Dominguez-Jiménez M, Guillén-Navarro E, Nevado J, Tenorio-Castano J, Ruiz-Pérez VL, Lapunzina P. Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome. Clin Genet. 2025.

We present a 28-year-old Spanish female with a de novo heterozygous variant in FMR1 (NM_002024.6:c.1061_1062delAA), p.(Lys354Thrfs*15) detected by whole-exome sequencing and confirmed by Sanger sequencing from cDNA. She was born full-term with neonatal jaundice requiring phototherapy. At age 11, she exhibited weight and head circumference > 97th percentile, global developmental delay, mild ID (IQ: 71), and hyperactivity. FMR1 CGG analysis was normal. NGS panel of over 200 OGS-related genes found no pathogenic variants. By age 28, she presented with macrocephaly, coarse facial features, mild joint hypermobility, left talo-valgus, a port-wine stain, a café-au-lait spot, and a piezogenic papule. Herein, we describe a clinical and molecular report of the second FXS female patient due to a heterozygous point variant. This study was approved by the ethical committee of Hospital Universitario La Paz (CEIm PI-446), and informed consent was obtained from the patient and her parents.

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10. Rynard KM, Han K, Wainberg M, Calarco JA, Lee HO, Lipshitz HD, Smibert CA, Tripathy SJ. ASiDentify (ASiD): a machine learning model to predict new autism spectrum disorder risk genes. Genetics. 2025; 230(1).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects nearly 3% of children and has a strong genetic component. While hundreds of ASD risk genes have been identified through sequencing studies, the genetic heterogeneity of ASD makes identifying additional risk genes using these methods challenging. To predict candidate ASD risk genes, we developed a simple machine learning model, ASiDentify (ASiD), using human genomic, RNA- and protein-based features. ASiD identified over 1,300 candidate ASD risk genes, over 300 of which have not been previously predicted. ASiD made accurate predictions of ASD risk genes using 6 features predictive of ASD risk gene status, including mutational constraint, synapse localization and gene expression in neurons, astrocytes and non-brain tissues. Particular functional groups of proteins found to be strongly implicated in ASD include RNA-binding proteins (RBPs) and chromatin regulators. We constructed additional logistic regression models to make predictions and assess informative features specific to RBPs, including mutational constraint, or chromatin regulators, for which both expression level in excitatory neurons and mutational constraint were informative. The fact that RBPs and chromatin regulators had informative features distinct from all protein-coding genes suggests that specific biological pathways connect risk genes with different molecular functions to ASD.

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11. Shen L, Xu A, Butler LK, Chenausky K, Maffei M, Narayanan S, Tager-Flusberg H. Conversational Latency in Autistic Children With Heterogeneous Spoken Language Abilities. J Speech Lang Hear Res. 2025; 68(5): 2386-98.

PURPOSE: Conversational latency entails the temporal feature of turn-taking, which is understudied in autistic children. The current study investigated the influences of child-based and parental factors on conversational latency in autistic children with heterogeneous spoken language abilities. METHOD: Participants were 46 autistic children aged 4-7 years. We remotely collected 15-min naturalistic language samples in the context of parent-child interactions to characterize both child and parent conversational latency. Conversational latency was operationally defined as the time it took for one individual to respond to their conversational partner using spoken language. Naturalistic language samples were transcribed following the Systematic Analysis for Language Transcripts convention to characterize autistic children’s spoken language and parental spoken language input. Autistic children’s spoken language was measured using number of different words (NDW). The quality and quantity of parental spoken language input was assessed using NDW, mean length of utterance in morphemes (MLUm), and frequency of words per minute (WPM). Additional child-based factors, including receptive language and socialization skills, were evaluated using the Vineland Adaptive Behavior Scales. Spearman correlation and regression analyses were conducted to investigate the relationships between those child-based and parental factors and child conversational latency. RESULTS: Older autistic children showed longer conversation latencies. Longer parent conversational latency was associated with longer child conversational latency after controlling for age. Greater parental WPM was associated with shorter child conversational latency after controlling for age. Child conversational latency was not associated with their spoken language, receptive language, or socialization skills. Child conversational latency was not associated with parental NDW and MLUm. CONCLUSIONS: Our findings highlight the interaction loop between autistic children and their parents in everyday interactions. Parents adjusted their timing and quantity of spoken language input to ensure smooth conversational turn-taking when interacting with their autistic children.

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12. Stadnick NA, Martinez K, Navarro F, Gomez-Patino P, Holmquist K, Negriff S, Roesch S, Bouchard I, Walpole S, Espinosa R, Broder-Fingert S, Barnett M, Brookman-Frazee L. Mixed Methods Findings from a Stepped Wedge Hybrid Implementation Trial of ATTAIN NAV: A Mental Health Family Navigation Intervention for Autistic Youth. J Autism Dev Disord. 2025.

ATTAIN NAV (Access to Tailored Autism Integrated Care through Family Navigation) was delivered by family navigators to promote access to and engagement with mental health services for school-age autistic youth. This study used a mixed method, stepped wedge design to test the effects of family navigation on service and clinical outcomes while gathering information on implementation. Primary care providers from six clinics in California and 56 caregiver-child dyads enrolled in and completed the study. Clinics were randomized to either a technology-enhanced or standard family navigation condition. Caregivers completed assessments at baseline and post about child, family and services outcomes, and a subset participated in a post qualitative interview. Quantitative findings demonstrated improvements in child challenging behavior and parent activation across conditions although these improvements were more pronounced for families in the standard FN condition. At post-intervention, families in the standard FN condition reported higher levels of navigation satisfaction, a shorter time to attend their first mental health appointment, and higher engagement with their navigator. Qualitative findings complemented and expanded the quantitative survey findings. The ATTAIN NAV model of family navigation for autistic children with co-occurring mental health needs demonstrates promising implementation, service, and clinical benefits. Clinical Trials Registration. NCT05344378.

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13. Wachspress B, Berger I, Maeir A, Mazor-Karsenty T. Feasibility of OT-Parentship: An intervention for parents of adolescents with autism. Br J Occup Ther. 2024; 87(6): 351-60.

INTRODUCTION: Parents of individuals with autism face various difficulties, among which are decreased resilience and heightened stress. OT-Parentship is an intervention for parents of adolescents with autism that aims to promote parental resilience and enhance adolescents’ participation in daily life. This study examines OT-Parentship’s feasibility and explores the improvement of parental resilience and child and parent occupational performance following intervention. METHODS: A mixed methods pre-post and follow up study. Fourteen parents (six mothers and four couples) of adolescents with autism participated in a series of 13 individual weekly sessions of 90 minutes each. Study results were analyzed before, after, and 3 months post intervention. RESULTS: All parents completed treatment, with 100% adherence to sessions. Therapist’s treatment fidelity was estimated at 95-97% and parent homework completion was 85%. Preliminary efficacy findings show significant improvement in mothers’ and adolescents’ occupational performance and improvement in maternal resiliency. CONCLUSION: Research results support the feasibility of the OT-Parentship as a family centered, strength-based, intervention program that leads to improvements in adolescent participation and parental resilience.

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14. Wood JJ, Rosenau KA, Muscatello V, Cooper K, Wood KS, Kendall PC, Storch EA. Cognitive Behavioral Therapy for Autistic School-Aged Children with Interfering Anxiety: Impact on Caregiver-Defined Goals. J Autism Dev Disord. 2025.

PURPOSE: Autistic children and youth can experience both mental health and adaptive skill needs, making the assessment of high priority goals from the caregiver’s standpoint an important objective in psychological treatment planning. Modular cognitive behavioral therapy (CBT) tailored to each family’s goals may be optimally suited to addressing different treatment priorities in autistic youth with interfering anxiety. The present study investigated the effects of adapted, modular CBT as compared to standard-of-practice CBT and treatment-as-usual (TAU) on caregiver-defined treatment goals. METHODS: A multisite randomized, controlled trial compared an adapted, modular CBT program with standard-of-practice CBT and TAU for autistic youth with interfering anxiety (N = 167; aged 7-13 years). At baseline, caregivers described their child’s three highest priority clinical needs in their own words and rated the severity of these problems on a Likert-type scale, using the Youth Top Problems (YTP) scale. A broad range of clinical needs (e.g., internalizing, externalizing, and autism-related needs) were described by caregivers on this measure. At each treatment session, these problems were rated by caregivers. Youth coping was rated by caregivers each month. RESULTS: Youth randomized to adapted CBT exhibited more rapid reductions in total YTP ratings in comparison with the TAU and standard-of-practice CBT conditions over the course of 16 weeks. Increased youth coping partly mediated this effect. CONCLUSION: In adapted/modular CBT, the treatment emphasis can be readily adjusted to address caregiver-defined goals and this feature may contribute to its advantage in reducing scores on a personalized measure of treatment goals. TRIAL REGISTRATION NUMBER(S): ClinicalTrials.gov NCT02028247.

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15. Zhou V, Xu J, Li X. Autism Predicts Performance on iPad-Administered Tests of Executive Functioning in Preschoolers in Mainland China. J Autism Dev Disord. 2025.

The purpose of this study was to investigate whether autism diagnostic status (versus neurotypical status) predicts performances on iPad-delivered measures of executive functioning (EF) in mainland Chinese preschoolers. The present study included 21 autistic preschoolers and 28 age- and gender-matched neurotypical preschoolers aged 3-6 years old. Participants were administered tests of visuospatial working memory, inhibitory control, and cognitive flexibility using the Early Years Toolbox. Results showed that autism predicted poorer performances on tests of working memory, inhibitory control, and cognitive flexibility in Chinese preschoolers. This study provides support for difficulties with visuospatial working memory, inhibitory control, and cognitive flexibility in autistic preschoolers in mainland China.

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