1. Rett syndrome in the therapeutic era: Rethinking diagnosis, boundaries, clinical outcomes, and financing. Dev Med Child Neurol. 2026.

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2. Aldakhil AF, Algahtani F. Maintaining vocational readiness during summer vacation: A two-group pilot evaluation of a culturally adapted digital parent-mediated programme for autistic adolescents and young adults in Saudi Arabia. Res Dev Disabil. 2026; 177: 105387.

BACKGROUND: Summer vacation may reduce opportunities for autistic adolescents and young adults to practice vocational readiness skills when structured educational and transition supports decrease. This two-group pilot programme evaluation examined the feasibility, acceptability, and implementation of the 8-week Summer Advocacy and Vocational Opportunities for Readiness (SAVOR) Programme, a culturally adapted digital parent-mediated intervention in Saudi Arabia, and estimated preliminary between-group differences in parent-reported vocational readiness and transition-related functioning. METHODS: Sixty-four parent-participant dyads involving autistic adolescents and young adults aged 15-21 years were allocated in a 1:1 ratio to the immediate intervention (n = 32) or waitlist comparison group (n = 32) using a computer-generated allocation sequence. SAVOR comprised eight asynchronous parent micro-learning modules and structured home-based vocational readiness activities. Feasibility, acceptability, and implementation were assessed using retention, intervention exposure and adherence indicators, the SAVOR Parent Feedback Questionnaire (SPFQ), and qualitative parent feedback. Parents completed the SAVOR Career Readiness Skills Checklist (SCRSC) and Transition Planning Inventory-Arabic Version (TPI-AR) at baseline and post-intervention to provide preliminary between-group estimates. Exploratory direct feedback was additionally obtained from five autistic participants. RESULTS: Fifty-eight of the 64 allocated dyads completed the post-intervention assessment (29 per group; retention = 90.6%). Among intervention completers, 89.7% completed all eight modules, 93.1% completed all weekly implementation checklists, and 82.8% reported an average daily practice duration of at least 15 min. Parent-reported usability, acceptability, feasibility, and confidence were favorable, and the mean likelihood-to-recommend rating was 9.1/10. Preliminary intention-to-treat estimates also favored SAVOR for parent-reported vocational readiness (adjusted mean difference = 6.1, 95% CI [1.2, 11.0]; Cohen’s d = 0.58, 95% CI [0.10, 1.06]). Exploratory domain-level estimates were largest for self-management and time-management skills, while the estimate for transition-related functioning was directionally consistent but less precise. Exploratory autistic participant feedback highlighted accomplishment, independence, structured routines, task-initiation challenges, and interest in broader community-based activities. CONCLUSIONS: SAVOR demonstrated favorable feasibility, acceptability, and implementation among participating families. Preliminary between-group estimates provide a signal of potential benefit for parent-reported vocational readiness but are not intended to establish programme effectiveness. Further evaluation is warranted in a fully powered, prospectively registered study with longer follow-up, systematic autistic participant-reported outcomes, and multiple outcome sources. The study was not prospectively registered. Following completion of data collection and analysis, the study was retrospectively registered on the Open Science Framework (OSF; GUID: qajs8).

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3. Berger ML, Simon M, Sabnis GS, Lutz CM, Kumar V. An automated machine vision-based index for Rett Syndrome provides a generalizable framework for modeling rare disease therapeutics. bioRxiv. 2026.

Rare diseases collectively affect millions of people, yet therapeutic development remains limited by preclinical phenotyping which is often dependent on subjective, low-resolution manual behavioral assessment. Rett syndrome (RTT), a rare disease affecting 1 in 10,000 female births, is caused by a MeCP2 deficiency. In mouse models for this disease, symptom severity is measured primarily with the observational Bird score. This subjective six-item ordinal scale was used to demonstrate that MeCP2 deficiency is reversible, but offers limited resolution for ranking candidate therapies or detecting partial rescue. We applied an automated machine learning (ML) pipeline to a humanized Mecp2 R270X mouse model. We conducted weekly Bird scoring and recorded one-hour open-field trials from 3 to 10 weeks of age in 24 hemizygous (Mecp2-/Y) males and 24 wild-type littermates, then extracted over 400 behavioral features spanning gait kinematics, open-field activity, body morphometrics, and trained behavior classifiers. Manual Bird scoring tracked overall disease trajectory, but most of its dynamic range derived from two of six items. In contrast, ML features separated genotypes as early as three weeks and identified disease-relevant behaviors not captured by the Bird protocol, including increased tail-tip amplitude, repetitive wall-directed jumping, and prolonged behavioral arrest. Sparse PLS-DA separated genotypes at every age tested. A composite score modeled from the ML features reproduced the temporal pattern of the total Bird score with substantially less variability. Subsampling analyses showed that the ML feature set reached 5% cross-validated genotype misclassification error with only 12 to 16 animals, whereas the Bird score did not reach the 5% threshold even with 44 animals before week 6, a reduction in animal use consistent with the 3Rs. Applied to a Mecp2 minigene rescue study, the composite score reproduced genotype separation in an independent cohort and detected both a partial shift of treated hemizygous survivors toward wild-type values and adverse effects of the construct in wild-type mice. These results establish an objective, high-resolution severity index for RTT and a generalizable framework for preclinical phenotyping in a rare disease.

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4. Burke MM, Humphries R, Burakov I, Kim J, Kalb T, Singh S, Smith BC, Alagozoglu E. Exploring the Perspectives of Siblings of Autistic Adults With Distressing Behavior: Perceptions of Positive and Negative Impacts. J Autism Dev Disord. 2026.

PURPOSE: Siblings of individuals with disabilities, including autism, often plan to assume future caregiving roles. Yet, most extant research relies on convenience samples wherein the autistic brother/sister does not have distressing behaviors. In the limited research about siblings of individuals with distressing behaviors, siblings often report negative and distant sibling relationships. To discern the perceived effects of distressing behavior on siblings and its impact on future caregiving roles, it is critical to explore the perspectives of adult siblings of autistic individuals with distressing behaviors. METHODS: We conducted individual interviews with sixteen siblings of autistic adults with distressing behaviors. Using Trauma Exposure Theory and the Hidden Talents Framework, we explored their perspectives including positive, negative, and caregiving effects. RESULTS: There was a nuanced effect of having a sibling with distressing behavior with participants reporting some benefits (e.g., increased resilience) and some negative impacts (e.g., worse mental health). Further, participants reported effects on their life choices (e.g., decisions about dating, marriage, and family planning) that conflict with extant research. CONCLUSION: Implications for research and practice are discussed.

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5. Chen Z, Kuo LJ, Dixon LQ, Han CL, Ma Y. The Contribution of Emergent Literacy Skills to the Development of Character Recognition and Oral Vocabulary Knowledge Among Children With Autism Spectrum Disorder: The Case of Kindergarteners in China. J Autism Dev Disord. 2026.

PURPOSE: The present study investigated the development of emergent literacy skills, and its contribution to promoting character and vocabulary knowledge among kindergarteners with autism spectrum disorder (ASD) in China. METHODS: Fifty-one children with ASD and fifty typically developing children were recruited and completed a series of assessments, including working memory, inhibitory control, rapid automated naming (RAN), phonological awareness, morphological awareness, orthographic awareness, character recognition, receptive and expressive vocabulary. RESULTS: Results indicated that children with ASD had difficulties in developing phonological awareness, morphological awareness, orthographic awareness and oral vocabulary. However, they demonstrated comparable performance on the tasks of character recognition and RAN in comparison with typically developing children. Additionally, autism severity, nonverbal reasoning, inhibitory control, RAN, phonological awareness and orthographic awareness were significantly associated with character recognition among Chinese-speaking children with ASD. Autism severity, nonverbal reasoning, RAN, and morphological awareness were significant predictors of receptive vocabulary for children with ASD in China. CONCLUSION: Evidence from this study provided insights of identifying possible challenges of early-developed literacy skills and highlighted the contribution of emergent literacy skills to promoting character- and word-level knowledge among children with ASD in China.

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6. Kennedy RA, Alford K, Shields N. Participation in Organised and Non-Organised Physical Activity Among Autistic Adolescents and Young Adults With Co-Occurring Intellectual Disability. J Intellect Disabil Res. 2026.

BACKGROUND: Few studies have explored participation in organised and non-organised physical activities among Autistic adolescents and young adults, including those with intellectual disability. This study aimed to explore participation in organised and non-organised physical activity, including measures of attendance and involvement. METHOD: Forty Autistic adolescents (n = 20) and young adults (n = 20) aged 13 to 28 years (34 male) were included; 75% reported co-occurring intellectual disability. Physical activity participation in organised and non-organised activities was measured as attendance (diversity, frequency and time spent active) and involvement. Data were collected via four self-reported questionnaires and accelerometry. RESULTS: Participation in non-organised activities, for example walking, was most commonly reported. Autistic adolescents and young adults reported spending 39 (SD 25) mins/day in moderate to vigorous physical activity. Average time spent sedentary was high (420 to 499 mins/day). CONCLUSIONS: Autistic adolescents and young adults with co-occurring intellectual disability report participating in non-organised activities rather than organised activities, and many do not meet recommended physical activity guidelines. Further investigation is required to determine factors and supports to facilitate greater physical activity participation among Autistic adolescents and young adults, including those with intellectual disability.

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7. Lam-Cassettari C, Short K, Garg P, Descallar J, Khan F, Bradford C, Andersen I, Jalaludin B, Liaw ST, Woolfenden S, Chambers A, Pritchard M, Lingam R, Lawson KD, Page A, Kohlhoff J, Marron C, Heussler H, Newcomb D, de Mello N, Murphy E, Colditz PB, Kundukulam M, Samaranayake D, Raman S, Southcombe F, Watch Me Grow Study Team T, Scott J, Eapen V. Can we do better in identifying child developmental conditions early? Sensitivity and specificity of the Watch Me Grow Integrated (WMG-I) digital developmental screening and surveillance tool in Australia. BMJ Open. 2026; 16(9): e117341.

OBJECTIVES: While child developmental checks are universally recommended, engagement with developmental surveillance programmes is low globally. To address this policy to practice gap, this study examined the diagnostic accuracy of the ‘Watch Me Grow’ Integrated (WMG-I) digital developmental screening and ongoing surveillance approach. DESIGN: This sub-study examined diagnostic accuracy of the WMG-I digital approach compared with routine assessment (service as usual (SaU)) in a prospective sample. PARTICIPANTS, SETTING AND INTERVENTION: Parents of 16-to-35-month-old children attending 40 general practices (randomised to WMG-I or SaU) in culturally diverse metropolitan New South Wales and Queensland, Australia, participating in a longitudinal cluster randomised controlled trial. Parents in the WMG-I group completed the WMG-I digital weblink, including a primary screener and automated secondary screener (if concerns were reported). On completion, results and recommendations were transmitted to the parent and general practitioner (GP) allowing discussion and further assessment. This was compared with SaU GP assessment. Once engaged, based on child’s date of birth, WMG-I sends automated reminders to take the check again at the next recommended ages, thereby allowing ongoing developmental monitoring/surveillance. PRIMARY OUTCOME MEASURES: All children with identified concerns and a 10% systematic sample without concerns received a reference standard assessment using the Mullen Scale of Early Learning, Autism Diagnostic Observation Schedule and Vineland Adaptive Behaviour Scale. The primary outcome was diagnostic accuracy of WMG-I compared with SAU on the reference standard assessments. RESULTS: Of the 655 children in the study at age 2 years, 151 children received reference standard assessment. There was a statistically significant difference in the diagnostic accuracy, with 93.9% sensitivity in the WMG-I group (95% CI 88.1% to 99.7%) and 75.9% (95% CI 57.2% to 94%) in the SaU group (p=0.035); specificity was 71.4% (95% CI 54.7% to 88.1%) and 66.7% (95% CI 44.9% to 88.4%) (p=0.743), respectively. CONCLUSIONS: Universal digital surveillance programmes such as WMG-I can enhance time and service efficiency to accurately identify developmental needs. Leveraging routine primary care contact such as immunisation visits to administer WMG-I digital offers a scalable solution for increasing the uptake of developmental surveillance at a population level internationally. TRIAL REGISTRATION NUMBER: ANZCTR12621000680864.

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8. Nazneen S, Ibarra-Mejia G, Mahmud S, Ojo B, Khanjani N, Jeon S, Gill TE, Hossain MF, Duarte-Gardea MO. Prenatal exposure to particulate matter (PM) and autism spectrum disorder (ASD) among children: a systematic review and meta-analysis. Rev Environ Health. 2026; 41(3): 353-74.

The global surge in Autism Spectrum Disorder (ASD) cases, coupled with evidence linking prenatal Particulate Matter (PM) exposure to developmental disruption, demands a comprehensive review to design targeted health interventions. This systematic review and meta-analysis aim to evaluate the strength and consistency of evidence linking prenatal PM exposure to ASD across studies, quantifying this relation to identify actionable environmental risk thresholds. This study employed PRISMA protocols to systematically extract and evaluate evidence from PubMed, Web of Science, Scopus, and ScienceDirect (2010-2024), and screened 4,013 articles to identify qualified case-control and cohort studies (n=29). Data synthesis employed random-effects modeling, accompanied by comprehensive assessment through I(2) statistics, Q-tests, funnel plots, Duval and Tweedie’s trim-and-fill analysis, and Egger’s regression, to ensure validity. A meta-analysis of 16 case-control studies revealed a 34 % increased risk of ASD associated with prenatal PM exposure (pooled OR=1.34; 95 % CI: 1.13-1.54), despite substantial between-study heterogeneity (I(2)=94.02 %, p<0.001). Publication bias was not significant (Egger's test p value=0.114). Critical trimester-specific analysis uncovered that third-trimester exposure significantly increased ASD risk (OR=1.17; 95 % CI: 1.01-1.34), while first-trimester (OR=1.02; 95 % CI: 0.92-1.11; I(2)=49.18 %, p<0.10) and second-trimester exposures (OR=1.13; 95 % CI: 0.88-1.38; I(2)=92.59 %, p<0.001) showed non-significant associations. This review identified prenatal and early life exposure to PM as a risk factor for ASD, indicating a trimester-specific vulnerability. It highlighted the necessity of focused air quality interventions and targeted guidance to reduce prenatal PM exposure to alleviate ASD risk during the critical-window.

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9. Ohmoto Y, Terada K, Iwanaga R, Kumazaki H. Factors Associated With Professionals’ Context-Specific Trust in AI-Based Screening for Autism Spectrum Disorder: Cross-Sectional Survey Study. JMIR Form Res. 2026; 10: e98367.

BACKGROUND: In clinical settings, clinicians’ context-specific trust in AI is associated with individual factors. This is particularly relevant in autism spectrum disorder (ASD) screening, where diagnostic criteria are complex, heterogeneous, and inherently uncertain. Although some AI systems demonstrate high sensitivity, clinicians are not always convinced of their utility. Therefore, examining potential biases in context-specific trust and achieving well-calibrated trust are critical. OBJECTIVE: This study aimed to examine the individual factors associated with professionals’ context-specific trust in AI-assisted ASD screening systems. METHODS: Fifty-five professionals involved in ASD assessment participated in the study. We used an AI-based ASD screening method based on a geometric shape-drawing task that assesses children’s motor function and has demonstrated high sensitivity for identifying children with ASD. Expert clinicians selected 2 ambiguous screening scenarios for evaluation. Participants made independent judgments while considering the AI output and rated their context-specific trust in each decision on a 7-point Likert scale. A linear mixed model (LMM) examined the associations between context-specific trust in AI decisions and participant characteristics while accounting for the nested data structure. RESULTS: LMM analysis revealed significant between-participant variability in context-specific trust. Years of professional experience (t(46.3)=-2.20; P=.03) and the length of education required to obtain professional credentials (t(47.6)=-2.67; P=.01) were significantly and negatively associated with context-specific trust in AI-based screening. Dispositional trust in AI was significantly and positively associated with context-specific trust (t(46.1)=2.78; P=.008). Confidence in participants’ own assessments was significantly and positively associated with context-specific trust (t(91.0)=5.67; P<.001). CONCLUSIONS: Our findings suggest that more experienced clinicians tend to exhibit greater skepticism toward AI, consistent with observations in other medical fields such as oncology. To support the effective integration of AI into clinical practice, professional education should include training on AI principles and strategies for appropriate human-AI collaboration. Future studies with larger and more diverse samples, multimodal assessment approaches, and real-world clinical settings are needed to validate these findings and inform the implementation of AI-assisted ASD screening.

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10. Santana GAS, Sousa LJ, Silva MJS, Dias NDM, Laguna GGC, Fernandes LA, Marques CR, Oliveira PDS. Diagnostic odyssey and healthcare access challenges in Rett Syndrome: perspectives from Brazilian families. Rev Paul Pediatr. 2026; 44: e2025329.

OBJECTIVE: To analyze the challenges in the diagnosis and care of Rett Syndrome based on the experiences of caregivers in Brazil. METHODS: This study employed a convergent mixed-methods approach. Data were collected from 14 primary caregivers of children with genetically confirmed Rett Syndrome. Data collection included thematic analysis of semi-structured interviews and descriptive statistics from sociodemographic questionnaires. RESULTS: The mean diagnostic delay was 3.6 years (standard deviation – SD=1.4 years; range, 2-6 years), with a median of 3.5 years. The distribution was assessed and deemed suitable for reporting the mean. Most cases (92.8%) were initially attributed to autism spectrum disorder. The main barriers were limited knowledge among professionals (78.6%), delays in genetic testing (92.8%), and difficulties accessing therapies. Caregivers (12 mothers, 2 fathers; mean age, 38.0 years [SD, 4.1]; 57.1% with a college degree) reported a significant physical and emotional burden, with 92.8% providing full-time care without institutional support. The qualitative analysis revealed four themes: the diagnostic journey, the battle for therapy, the impact on family life, and the burden of care. CONCLUSIONS: Diagnosis and care are hindered by knowledge gaps, systemic inefficiencies, and limited support. The findings highlight the need to improve education on rare diseases, streamline access to genetic testing and therapies, and implement support programs for caregivers.

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11. Son I, Kim Y, Kim Y, Kim J, Kang D, Lee S, Min J, Kim BN. A Stepwise Animated Video Modeling App With Token-Based Reinforcement for Toilet Training in Children With Autism Spectrum Disorder: Pilot Study Using Multiple-Baseline and Single-Case Designs. JMIR Pediatr Parent. 2026; 9: e92147.

BACKGROUND: Toilet training is a major challenge for children with autism spectrum disorder. While mobile health offers accessible support, few apps specifically address the complex chaining required for independent toileting routines. OBJECTIVE: This pilot study evaluated the feasibility and preliminary effectiveness of a caregiver-mediated mobile app using stepwise animated video modeling with token-based reinforcement support for toilet training in young children with autism spectrum disorder. METHODS: A multiple-baseline design across participants (urination training) and a single-case AB design (defecation training) were used. Ten children (aged 3-6 years) were enrolled, and 4 (40%) were included in the final analyses. The tablet-based intervention guided a 16-step toileting routine using animation and token reinforcement. Primary outcomes were caregiver-recorded in-toilet elimination success (percentage) and routine completion (percentage). Secondary outcomes included standardized adaptive behavior scores (Korean Scales of Independent Behavior-Revised) and social validity. RESULTS: Four children completed the study, whereas 6 were not included in the final analyses for heterogeneous reasons, including child engagement, caregiver implementation burden, and postenrollment ineligibility. Among completers, in-toilet elimination success improved substantially from baseline, reaching 100% for all participants at the limited 3-day follow-up observation window conducted 3 months after the intervention. Notably, one participant showed marked improvement from a stable 0% at baseline to 93.8% (30/32) of elimination events during the intervention. Routine completion also increased across all participants, suggesting improvements in independence. Caregivers reported favorable treatment adherence and social validity. CONCLUSIONS: The app showed preliminary feasibility and was associated with improvements in toileting outcomes among families who maintained engagement. However, the high attrition rate suggests that successful implementation may depend on child engagement readiness and caregiver resources. Future research should prioritize defining readiness criteria to identify families most likely to benefit from digital toileting interventions.

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12. Tan Q, Lei Z, Chang J, Yao L. Effects of Physical Exercise Interventions on Social Skills in Children With Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. J Autism Dev Disord. 2026.

PURPOSE: Children with autism spectrum disorder (ASD) often have social skill deficits. This systematic review and meta-analysis examined the effects of physical exercise interventions on social skills in children with ASD. METHODS: PubMed, Web of Science, Embase, and Scopus were searched from inception to January 10, 2025, for randomized controlled trials (RCTs). Studies were screened using predefined eligibility criteria. Methodological quality was assessed with the Cochrane Risk of Bias Tool. RevMan 5.3.5 and Stata 16.0 were used for subgroup, sensitivity, and publication-bias analyses. RESULTS: Eleven RCTs involving 349 participants were included. The primary random-effects meta-analysis suggested a small significant pooled effect on social skills (SMD = 0.34, 95% CI 0.03-0.65, P = 0.03; I² = 49%). However, after excluding one influential study in a post-hoc sensitivity analysis, the effect was attenuated and no longer significant (10 RCTs; SMD = 0.19, 95% CI - 0.03-0.41, P = 0.09; I² = 0%). Differences among intervention-duration subgroups were not significant (P = 0.61). Egger’s tests detected no significant small-study effects in the primary (P = 0.432) or sensitivity analysis (P = 0.263), although publication bias could not be excluded. CONCLUSION: Physical exercise may have a small beneficial effect on social skills in children with ASD, but the estimate was sensitive to one influential study, and longer interventions were not clearly superior. Given the limited evidence base and variability in protocols and outcomes, findings should be interpreted cautiously. Larger, rigorous RCTs are needed to clarify effects and potential moderators.

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13. Yi T, Wei W, Cai Q, Jin K. Recognition value of diffusion basis spectrum imaging brain network analysis for preschool children with autism spectrum disorder. Psychiatry Res Neuroimaging. 2026; 364: 112340.

OBJECTIVE: To explore the value of binary brain network model and weighted brain network model based on diffusion basis spectrum imaging (DBSI) for identifying preschool children with autism spectrum disorder (ASD). METHODS: Three-dimensional T1 structural images and DBSI images were acquired from 31 ASD patients (ASD group) and 33 normally developing children (HC group). Using DSI Studio, binary and weighted brain network construction were performed on each subject’s DBSI brain network matrix, with calculation of clustering_coeff_average, transitivity, network_characteristic_path_length, small-worldness, global_efficiency, assortativity_coefficient, rich_club. All data were randomly divided into a training dataset (45 cases, 22/23 = ASD/HC) and test dataset (19 cases, 9/10 = ASD/HC) in a 7:3 ratio. Receiver operating characteristic curve analysis was employed to evaluate model performance. RESULTS: The ASD group shows lower values in global_efficiency and assortativity_coefficient, as well as rich_club_k10, rich_club_k15, rich_club_k20, and rich_club_k25 compared with the HC group. The binary model based on 3 features demonstrated ASD identification accuracy/AUC values/sensitivity and specificity of 0.8947/0.8889/0.7778/1.0000, while the weighted brain network model based on one feature showed corresponding values of 0.9474/0.9333/0.8889/1.0000. CONCLUSIONS: Different brain network construction approaches can affect the magnitude of between-group differences in indicators including clustering_coeff_average, network_characteristic_path_length, and rich_club_k5. Brain structural network characteristics derived from DBSI may possess potential discriminative value for identifying preschool-aged autism.

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