Pubmed (TSA) du 28/02/26
1. Aitken R, Berry K, Gowen E, Brown LJ. How do autistic adults experience ageing? A qualitative interview study. Autism. 2026: 13623613261422937.
The aim of this study was to understand middle-aged and older autistic adults’ views and experiences of ageing and their associated health and social care needs. Seventeen autistic adults (10 women and seven men) aged 46-72 years were recruited via convenience and snowball sampling strategies and interviewed via Zoom or telephone call about what it means to age well; their age-related needs; and how services could better support them to age well. Semi-structured interview transcripts were analysed using inductive thematic analysis. Five themes were identified. These reflected: (1) possibilities and fears around ageing; (2) adaptive strategies when facing age-related changes; (3) understanding and acceptance of autism for a more positive experience of ageing; (4) social relationships as important for supporting ageing and (5) formal support for ageing needing to be autism-informed. The findings highlight a need for increasing societal knowledge about ageing with autism, and for improved services to support this. We provide a set of recommendations for professionals working with autistic adults. These include involving autistic people in the design of health and social care services; ensuring that services are trauma-informed and strength-focused; and providing peer support to help autistic people navigate and access services.Lay abstractWhat was the purpose of this study?The purpose of this study was to understand middle-aged and older autistic adults’ views and experiences of ageing well, their age-related needs, and how services could better support them to age well.Why is this an important issue?Very little research explains how autistic people experience ageing. It is important to know more about this to ensure that health and social services know how to best support ageing autistic people to live happier and healthier lives.What did the researchers do?We interviewed 17 middle-to-older autistic adults (10 females, 46-72 years) via Zoom or telephone. We typed up participant’s responses and looked for common themes within the data.What were the results of the study?Participants felt that links between autism and ageing were poorly understood, and that autistic adults may have a higher risk of certain age-related conditions such as dementia. Participants also felt their autistic characteristics and experiences were changing with age.This study also revealed that current ageing support is generally felt to be incompatible with autistic adults’ characteristics. This incompatibility was linked to professionals not understanding autistic characteristics, and services being difficult to access. A hub-based model was proposed involving flexible and responsive peer and specialist support options.How will these findings help autistic adults now or in the future?This study raises the profile of the needs of ageing autistic adults. We have created a set of recommendations that will contribute to professionals’ understanding of autistic adults’ views on ageing well, their age-related support needs, and how to adapt service provision accordingly.
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2. Ali D, Mandy W, Happé F. How does ‘autistic burnout’ feel? A qualitative study exploring experiences of earlier and later-diagnosed autistic adults. Autism. 2026: 13623613261422117.
‘Autistic burnout’ is increasingly conceptualised as an experience of severe exhaustion, increased sensory difficulties and need for solitude, resulting from not having needs met across contexts. We interviewed 20 autistic adults (eight diagnosed with autism in childhood) about their experiences of autistic burnout. In this reflexive thematic analysis, we focused on how burnout felt, comparing the experiences of those diagnosed in childhood versus adulthood. We created five themes. We understood burnout to be, at times, (1) a powering down and/or (2) the overactivation, of the mind and body, resulting in (3) a craving for sensory and social rest. For those diagnosed in adulthood, burnout seemed to be experienced as more chronic and confusing. Some participants diagnosed in adulthood (4) made the world more bearable by using substances, coping with the contributors to and effects of burnout. Especially affecting those diagnosed in adulthood, (5) not knowing why this was happening took a (sometimes dangerous) toll; for a few, it led to contemplating suicide. This study brings new insights into burnout experiences of adults diagnosed with autism at different life points.Lay abstractSome autistic people experience severe exhaustion as a result of not having their needs met that sometimes prevents them from being able to take part in daily life. Some people refer to this as ‘autistic burnout’. In this study, we spoke to 20 autistic adults, eight of whom were diagnosed with autism in childhood. We analysed our participants’ interviews through an approach called reflexive thematic analysis. Through this process, we created five themes around the question of how autistic burnout felt for these participants. We were also interested in how participants diagnosed with autism in childhood versus in adulthood described their burnout experiences. This is because research has shown that not having an autism diagnosis earlier in life could, indirectly, lead to not understanding one’s own needs accurately and not having the right support from others. The five themes we created were (1) the powering down of the mind and body, (2) the overactivation of the mind and body, (3) craving social and sensory rest, (4) making the world more manageable by using substances and (5) not knowing why this is happening to you can take a (sometimes dangerous) toll. Themes 1, 2 and 3 seemed to be shared between participants regardless of age at autism diagnosis. However, these experiences seemed to be more disabling for participants diagnosed in adulthood. Themes 4 and 5 related particularly to those diagnosed with autism in adulthood. This study adds an important insight: perspectives on burnout experiences from adults diagnosed with autism at different life points.
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3. Barbuti M, Amadori S, De Rosa U, Perugi G. Clinical characterization of bipolar disorder in adults with autism without intellectual disability: a cross-sectional study. J Affect Disord. 2026; 405: 121527.
OBJECTIVE: The present study aims to provide a detailed clinical characterization of adult patients with bipolar disorder (BD) and comorbid autism spectrum disorder without intellectual disability (ASD-noID), through a comparison with a control group of individuals with BD only. METHODS: We conducted a cross-sectional observational study involving 62 adults with comorbid BD and ASD-noID, recruited at the University Hospital of Pisa between June 2022 and April 2023. Clinical history, psychiatric diagnoses, and symptom profiles were collected using standardized assessment procedures. Group comparisons with a sex-matched control sample of BD patients without ASD were performed. RESULTS: Patients with ASD-BD exhibited an earlier onset of mood symptoms, a higher prevalence of other specified bipolar and related disorder (BD-OS) diagnoses, and greater rates of comorbid anxiety disorders. Temperamental assessment revealed significantly higher scores in cyclothymic, anxious, and depressive dimensions. The ASD-BD group also reported lower global functioning. Finally, ASD-BD individuals show high frequency of adverse reactions to antidepressants and antipsychotics. CONCLUSIONS: BD in adults with ASD-noID presents a distinct clinical phenotype, characterized by atypical mood presentations, emotional dysregulation, complex comorbidity, and reduced treatment tolerability. These findings highlight the importance of improving diagnostic accuracy and adopting personalized treatment approaches for adults with this comorbidity.
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4. Boutros M, Assi A, Diebo BG, Prince G, Karam M, Daher M, Ames CP, Bess S, Daniels AH, Gupta MC, Hostin R, Kim HJ, Klineberg EO, Lenke LG, Nunley PD, Passias PG, Schwab FJ, Shaffrey CI, Smith JS, Lafage R, Lafage V. A New Normative Zone for Acetabular Anteversion Positioning in ASD Patients. J Orthop Res. 2026; 44(3): e70171.
Adult spinal deformity patients undergoing total hip arthroplasty experience higher hip dislocation rates than those with normal spinal alignment. The traditional Lewinnek safe zone does not account for spinopelvic variation such as pelvic retroversion. To address this, three patient-specific normative zones for acetabular anteversion were defined. A multicenter retrospective analysis of 146 adult spinal deformity patients and 47 asymptomatic controls was performed using three-dimensional biplanar radiograph reconstructions to measure spinopelvic alignment and acetabular orientation. Normative Zone 1, for patients not undergoing spinal realignment, was delineated by the 95% confidence interval limits: minimum anteversion = 0.3182 × pelvic tilt +2.947 and maximum anteversion = 0.3317 × pelvic tilt +25.823. Normative Zone 2, for patients following spinal realignment, was based on pelvic incidence: minimum anteversion = 0.0682 × pelvic incidence +9.7749 and maximum anteversion = 0.0698 × pelvic incidence +21.5218. Normative Zone 3, intended for cases with uncertain spinal correction plans, was defined as the intersection of Zones 1 and 2, yielding a narrower target anteversion range. These zones enable patient-specific cup placement that accounts for existing or planned spinal alignment, with the potential to reduce dislocation risk. Clinical Significance: This study provides acetabular cup orientation tailored to each patient’s spinopelvic alignment and surgical plan, potentially reducing dislocation rates in spinal malalignment patients.
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5. Brahim T, Carpine L, Young H, Turq A, Fonseca DD, Gerardin P, Bat-Pitault F. The Contribution of ASD Comorbidity to Sleep Disorders in Patients With AN. Eur Eat Disord Rev. 2026.
INTRODUCTION: Sleep disorders are frequently reported in individuals with anorexia nervosa (AN). Autism spectrum disorder (ASD) is strongly associated with both anorexia nervosa and sleep disturbances. We study the possible influence of the association of ASD to AN to the development of sleep disorders. METHOD: A retrospective cohort study design was used, including all patients followed for AN or ASD in the child and adolescent psychiatric unit at the Salvator hospital, Marseille, between January 2019 and January 2024. We had included 491 patients, mean age was 15.16 years ± 3.11 years. Sleep was assessed with the PSQI, ESS and ISI; autistic traits with the Autism-Spectrum Quotient (AQ). RESULTS: Sleep disorders were significantly more prevalent in the anorexia nervosa binge/purge subtype group than the Anorexia nervosa restrictive subtype or the ASD groups with pathological scores in the PSQI in 78% (p < 10-3), ISI in 46.3% (p = 0.035) and in the ESS in 58.5% (p = 0.017). The prevalence of sleep disorders was significantly higher in AN patients having pathological AQ score. However, when controlling for confounding factors, this association was no more significant. CONCLUSION: Our findings were inconclusive in establishing a clear association between autistic traits and sleep disorders in individuals with anorexia nervosa. However, a potential influence cannot be ruled out.
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6. Cardona B, Choi HM, Lyall K, Hart JE, James P, Weisskopf MG. Association between greenspace exposure before, during, and after pregnancy and autism spectrum disorder in offspring. J Expo Sci Environ Epidemiol. 2026.
BACKGROUND: Greenspace exposure in the period surrounding pregnancy may influence autism spectrum disorder (ASD) risk in offspring by reducing risk factors or mitigating effects through various pathways. Current research is limited but suggestive. OBJECTIVE: We explored the association between greenspace exposure during pregnancy and ASD risk, assessing potential periods of susceptibility: 3 months preconception; first, second, and third trimester; and 3 months post-birth. METHODS: We conducted a nested case-control study within the Nurses’ Health Study II (NHSII), a US prospective cohort followed up biennially. Cases were children of NHSII participants who were maternally reported to have ASD (n = 245). Controls were randomly selected from the full cohort and frequency matched to cases by birth year (n = 1526). Greenspace exposure was assessed using the satellite-based normalized difference vegetation index (NDVI) measured within 270 m and 1230 m radial buffers of the residential address of participants. Temporally matched, time-linked NDVI was used to calculate greenspace exposure for each potential period of susceptibility. Multivariable adjusted logistic regression models were applied to obtain effect estimates. RESULTS: Greenspace exposure during pregnancy was inversely associated with ASD risk when NDVI was measured within a 270 m radial buffer of the residential address. Specifically, an interquartile range (0.144) increase in NDVI during the first trimester decreased the odds of ASD by 25% (odds ratio=0.75, 95% confidence interval: 0.56, 0.99) in a model adjusting for other time periods of exposure. There was no other 3-month exposure period significantly associated with ASD. Adjusting for PM(2.5) did not change results. The analysis of NDVI measured within a 1230 m radial buffer showed weaker and inconsistent associations. SIGNIFICANCE: This study found that greenspace exposure during pregnancy was inversely associated with ASD, with the first trimester being a critical exposure period. Implications for urban and city design provide compelling reasons to increase research in this field. IMPACT STATEMENT: Ours is the first study to report an inverse association between greenspace exposure during pregnancy and autism spectrum disorder risk in offspring that was specific to the first trimester. An interquartile range increase in satellite-based normalized difference vegetation index exposure (0.114) within a 270 m radial buffer of the residential address decreased the odds of ASD by 25% (odds ratio=0.75, 95% confidence interval: 0.56, 0.99). Future research is warranted to confirm these findings in other populations and explore the pathways by which greenspace may mitigate risk. Implications for urban and city design provide compelling reasons to increase research in this field.
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7. Corbett BA, McGonigle T, Ijeli N, Vandekar S, Muscatello RA, Sparks S. Investigating a biopsychosocial model of depression in autistic youth: The intersection of cortisol and depressive symptoms. Psychoneuroendocrinology. 2026; 187: 107811.
BACKGROUND: Depression is a leading mental health concern in adolescents. The maturation of the hypothalamic pituitary adrenal (HPA) axis during adolescence coincides with higher basal cortisol, and elevations in evening cortisol have been associated with depressive symptoms. Autism spectrum disorder (ASD) is differentiated by challenges with socioemotional reciprocity. Research in autistic youth has shown earlier and higher rates of depressive symptoms and elevated evening cortisol. The extent to which cortisol profiles may be linked to depressive symptoms in ASD has not been explored. METHODS: Participants included 244 youth, 140 autistic and 104 neurotypical, aged 10-16 over four years. The Children’s Depression Inventory (CDI) 2nd Edition Total T-score assessed depressive symptoms. Salivary morning and evening cortisol collected over three days in the home were log transformed and averaged. We fit a mixed effects model for CDI Total scores with log-transformed cortisol (fit with natural cubic splines) as the main variable of interest, adjusting for diagnosis (ASD or TD), nonlinear age (fit with natural cubic splines), sex, and use of psychotropic medication. We also allowed for diagnosis-by-cortisol and sex-by-cortisol interactions. RESULTS: There was a main effect of morning cortisol on the CDI total score (p = 0.028, robust effect size index (RESI) = 0.17), but no main effect for evening cortisol (p = 0.421, RESI=0.00). There was a diagnosis-by-evening cortisol interaction (p = 0.001, RESI = 0.25), but no diagnosis-by-morning cortisol interaction; the ASD CDI scores were flat across evening cortisol values (p = 0.824), however increasing evening cortisol in the interval 0.11-0.80 nmol/L was associated with increasing CDI in the TD group (p = 0.005). We observed a significant morning cortisol by age interaction (p = 0.029, RESI = 0.18). CONCLUSIONS: Results replicate previous findings in autism showing higher depressive symptoms, but do not show a clear association with cortisol levels. Elevations in evening cortisol were associated with higher depressive symptoms in neurotypical youth; a link previously found in non-autistic adolescents and adults.
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8. Coşkun F, Hira Selen AT, Kılınç İ, Kılıç AO. Serum Levels of Wnt/β-catenin Pathway Regulators Dkk-1, PORCN, Notum, and Tiki-1 in Children with Autism Spectrum Disorder. Clin Psychopharmacol Neurosci. 2026; 24(1): 84-92.
OBJECTIVE: Dysregulation of the Wnt/β-catenin signaling system has been increasingly associated with the pathogenesis of autism spectrum disorder (ASD). Nevertheless, regulators of this system remain unexamined in patients with ASD. This study aimed to examine serum concentrations of Dkk-1, PORCN, Notum, and Tiki-1 in preschool children with ASD. METHODS: A total of 60 children diagnosed with ASD and 50 healthy controls, aged 18 to 60 months, were included in the study. Serum levels of the target molecules were quantified utilizing enzyme-linked immunosorbent assay kits. Autism severity and behavioral traits were evaluated utilizing the Childhood Autism Rating Scale (CARS) and the Autism Behavior Checklist (AuBC). RESULTS: Serum concentrations of Dkk-1 and PORCN were significantly higher in the ASD group relative to controls. However, no significant difference for serum Notum and Tiki-1 levels was detected between the groups. Correlation analyses revealed significant positive associations between serum PORCN, Notum, and Tiki-1 levels and multiple AuBC subscale and total scores. No significant correlations were found between any of the molecules and CARS scores. CONCLUSION: These data indicate that regulators of the Wnt/β-catenin pathway, notably Dkk-1 and PORCN may play a potential role in the pathogenesis of ASD. This study presents new data confirming the significance of Wnt/β-catenin pathway regulators in ASD and underscores the necessity for further research.
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9. Dong S, Wang L, Kato H, Hirofuji S, Zhou Z, Ito Y, Hirofuji Y, Sato H, Kato TA, Sakai Y, Ohga S, Fukumoto S, Masuda K. MECP2 Insufficiency Attenuates RUNX2-Dependent Osteoblast Differentiation via miR-126-3p/DKK1-Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome. Faseb j. 2026; 40(4): e71570.
Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2) that is located on the X chromosome. Affected individuals also exhibit a variety of non-neurological symptoms such as kyphoscoliosis and osteoporosis. Thus, MECP2 may play a functional role in bone remodeling and osteoblast differentiation. This study aimed to clarify the molecular mechanisms underlying the deregulation of bone remodeling in RTT. Human deciduous tooth-derived mesenchymal stem cells that exhibit osteoblast plasticity were used as a cellular model of RTT. Using a small interfering RNA-mediated MECP2 (MECP2-siR) knockdown system, we quantitatively analyzed the RUNX2-dependent and canonical Wnt signaling pathways during osteoblast differentiation. Expression of active β-catenin, RUNX2, and their downstream targets (osteocalcin and alkaline phosphatase) and mineralization were decreased in MECP2-siR-treated osteoblasts compared to that in control osteoblasts. In contrast, the MECP2-siR-treated osteoblasts exhibited an increase in the endogenous Wnt antagonist DKK1. Notably, MECP2/DKK1 double-knockdown osteoblasts possessed greater β-catenin and RUNX2 levels than MECP2 single-knockdown osteoblasts. Furthermore, microRNA126-3p was upregulated in MECP2-siR-treated osteoblasts, and an antagomir of microRNA126-3p prevented DKK1 upregulation, thereby improving the levels of active β-catenin and other osteoblastic phenotypes. These results suggest that MECP2 insufficiency enhances DKK1 expression via the upregulation of microRNA126-3p, suppressing the canonical Wnt signaling and subsequent RUNX2-dependent osteoblast differentiation. The present study provides insights into the molecular mechanisms involved in impaired osteoblast differentiation that contribute to the development of osteoporosis in RTT.
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10. Hardiansyah I, Bussu G, Bölte S, Jones EJH, Falck-Ytter T. Functional connectivity in infants’ visual cortex and its links to motion processing and autism. Sci Rep. 2026; 16(1).
In a previously published study, we found atypical visual cortical laterality patterns during global motion perception in 5-month-old infants who showed high levels of autistic symptoms in toddlerhood. Here, using data from a separate experiment within the same recording session, we examined whether these results could reflect altered visual cortical functional connectivity in theta, alpha, and gamma rhythms. We assessed this in a sample of 5-month- old infants (n = 59; 39 elevated familial likelihood of autism) by means of electroencephalography (EEG) when they were watching videos showing social and non-social scenes. Gamma connectivity between midline and far-lateral visual cortex when viewing social scenes was linked to both later autism symptoms and global motion visual cortical laterality we reported in the previous study. This may indicate a shared integrative mechanism underlying social perception and global motion processing. Further, we found that higher midline-to-lateral theta connectivity in the visual cortex when perceiving non-social scenes in infancy was strongly associated with having more autistic symptoms at follow up, but uncorrelated with concurrent motion perception. Our study points to atypical functional connectivity in the visual cortex as a potential early marker of autistic symptoms and highlights a probable link between motion processing and social perception. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1038/s41598-026-42048-3.
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11. Jiang X, Liang Y, Lu J. Advancing understanding of the mechanisms of autism spectrum disorder through perinatal risk factors. J Neural Transm (Vienna). 2026.
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12. Michiels R, Groffi M, Dewinter J, Noens I, Enzlin P. Gender identity development in autistic individuals: An interview study. Autism. 2026: 13623613261421391.
Autistic individuals report more gender-related questions and gender incongruence compared to non-autistic peers. However, research on gender identity in autistic individuals lacks longitudinal perspectives and underrepresents cisgender males. This study explored how both cisgender autistic individuals and trans and gender-diverse (TGD) autistic individuals experienced their gender identity development in a broad sense. Fifteen autistic adults (aged 27-52) participated in semi-structured interviews. Data were analyzed using a qualitative longitudinal approach combining phenomenological and process analyses, guided by the Qualitative Analysis Guide of Leuven (QUAGOL). The autistic community was involved in developing research questions, study design, interpreting and discussing results. Phenomenological analysis revealed three themes: (1) exploring a comfortable identity; (2) negotiating oneself with others; and (3) interacting with societal perspectives on gender. Process analysis identified three themes: (1) learning by experience; (2) gender identity development takes time and is demanding; and (3) changing perspectives on gender. Gender-related questions shaped by individual, environmental, and societal factors were present in both cisgender and TGD autistic individuals, though convergence and divergence existed. Gender identity development was experienced as intertwined with autism and demanding, emphasizing the need for supportive environments, peer connections, and appropriate timing and conceptualization of autism diagnoses to foster positive gender identity development.Lay AbstractHow both cisgender autistic people and trans and gender-diverse autistic people talk about their gender identity development.Why was this study done?Not everyone feels they have a gender identity, but everyone goes through a development in which gender identity plays a part. Some people experience a difference between their sex assigned at birth and how they experience their current gender. Here, we refer to this small group as trans and gender-diverse and to those whose gender aligns with their assigned sex as cisgender. An increasing number of studies show that autistic people identify more often as trans and gender-diverse compared to the general population but also autistic cis persons can have questions about gender. However, little research on gender identity in autistic individuals had looked at how their sense of gender developed. So, we wondered how autistic adults experienced their gender and how this changed while growing up.How was the study conducted?We interviewed 15 autistic adults between 27 and 52 years old about their gender identity development. In the interviews, we focused on (1) how autistic people described their sense of gender and (2) how their sense of gender changed over time.What did the study find?For both cisgender autistic individuals and trans and gender-diverse autistic individuals, gender identity development was a personal journey. We found three key themes: (1) exploring an identity that feels right as an individual; (2) in social situations, finding a balance between personal identity and others’ expectations; and (3) in society, interacting with social views on gender. We also found three themes related to changes over time: (1) people learning by experience; (2) gender identity development takes time and is demanding; and (3) perspectives on gender change over time. However, variety existed in how these themes were expressed and experienced.Why is this important?Interviewees shared how autism and identity, including gender identity, intertwined. For some, this was challenging. This shows how adequate information and support on gender and autism, and connections with other autistic people can contribute to a positive gender identity development. Also, a well-timed autism diagnosis and positive views on autism can further support this development.
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13. Nell Y, Kritzinger A, Graham MA, Eccles R. Assessment accommodations for autistic learners in South African schools: Stakeholder perspectives. Afr J Disabil. 2026; 15: 1803.
BACKGROUND: Autistic learners benefit from demonstrating academic knowledge with the help of assessment accommodations, guided by South African examination policies, such as the National Policy Pertaining to the Conduct, Administration and Management of Examinations and Assessment for the National Senior Certificate Examination. However, stakeholder perspectives on accommodations remain under-explored. OBJECTIVES: This study explored stakeholder perspectives (autistic adults, caregivers, educators, psychologists, speech-language therapists and occupational therapists) on assessment accommodations for autistic learners in South African schools. METHOD: A web-based questionnaire was distributed nationally to professionals and caregivers (n = 92). Quantitative data were analysed descriptively, and qualitative responses were thematically coded. RESULTS: Stakeholders reported a persistent policy-practice disconnect, with educators lacking the knowledge of accommodation policies, as well as the training to implement accommodations, particularly for autistic learners. Similarly, current policies do not adequately accommodate the needs related to sensory regulation and anxiety. Considerable variability emerged in accommodation preferences, reflecting both the heterogeneity of autistic learners and the differences across stakeholder groups. Respondents also prioritised universal design elements such as simplified language, redundancy and clearer assessment layouts, which are not currently considered in South African policy. Overall, findings highlight the need for expanded and individually tailored assessment accommodations informed by diverse stakeholder input. CONCLUSION: The findings highlight a disconnect between policy and practice. Broader autism-specific accommodations are crucial to support equitable assessment conditions in South African schools, especially for learners with sensory and communication challenges. CONTRIBUTION: This study provides insight into stakeholder experiences and suggests that current assessment policies may inadvertently exclude autistic learners. The findings support the need for inclusive, contextually relevant assessment strategies. The contribution aligns with the focus of the journal on disability inclusion by advancing evidence-based recommendations that promote full participation of neurodivergent learners in education systems, particularly within under-resourced and diverse settings.
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14. Sakata M, Ostinelli EG, Yamamoto R, Oi H, Kikuchi S, Toyomoto R, Nakajima S, Ohashi K, Nogimura A, Yamada R, McLay L, Furukawa TA, Nagai Y, Yamada A. Comparative efficacy and acceptability of sleep interventions for children and adolescents with autism spectrum disorders: a protocol for a systematic review and network meta-analysis. Syst Rev. 2026.
BACKGROUND: Children and adolescents with autism spectrum disorder (ASD) frequently experience sleep problems. Although various pharmacological, behavioral, and physical interventions have demonstrated efficacy in improving sleep among children with ASD, the relative effectiveness of these interventions remains unclear. METHODS: We will conduct a systematic literature search to identify randomized controlled trials that evaluate the efficacy of pharmacological (e.g., melatonin), psychological (e.g., cognitive behavioral therapy), and physical (e.g., bright light therapy) interventions for sleep problems in children with ASD. We will search PubMed, PsycINFO, Cochrane CENTRAL, major trial registries, and regulatory agency websites. We will assess the Cochrane Risk of Bias 2.0 (RoB 2.0) tool for primary outcome and the Risk Of Bias due to Missing Evidence in Network meta-analysis (ROB-MEN) tool for the bias due to missing network evidence. A network meta-analysis (NMA) will be performed to compare the included interventions. The primary outcome will be sleep onset latency, while secondary outcomes will include other sleep variables, all-cause dropouts, and sleep disturbances assessed using standardized measures. We will assess confidence in NMA(CINeMA). DISCUSSION: Our NMA aims to provide evidence-based insights into the effectiveness of sleep interventions for clinicians, children with ASD, and their caregivers. This information will help guide treatment decisions and improve the quality of life for children with ASD and their families. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42024592795.
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15. Torres-Díaz J, Grad GB, Ávila JG, Vega L, Bonzi EV. Electron spectra measurements in linear accelerators via neural network reconstruction from percentage depth dose (PDD) data. Appl Radiat Isot. 2026; 231: 112523.
This work presents a novel methodology for the indirect measurement of electron energy spectra produced by a linear accelerator, in which artificial neural networks are applied to solve a first-kind Fredholm integral equation linking percentage depth dose (PDD) curves to the underlying electron energy spectrum in water. A training corpus was generated by convolving mathematically defined spectra with a response matrix obtained via Monte Carlo simulations, and two Multi-Layer Perceptron (MLP) neural networks were trained on this dataset. Subsequently, experimental PDD curves produced by electron beams at nominal energies of 4, 6, and 9 MeV were measured using an Elekta Precise linear accelerator and processed through the trained networks to reconstruct the corresponding electron spectra. The reconstructed spectra were used to simulate PDD curves via Monte Carlo calculations, which were then compared with the measured ones. To evaluate the agreement, two figures of merit were applied: the Normalized Average Relative Difference (NARD) and the Kullback-Leibler Distance, both yielding values below 0.01. In addition, a residual analysis based on z-scores was performed to assess the statistical significance of the discrepancies between measured and simulated PDD curves. This methodology enables accurate spectrum reconstruction using only standard clinical measurements, without requiring access to the internal design of the accelerator, offering a practical tool for beam characterization and quality assurance in radiotherapy. Notably, the neural network implicitly learns to resolve ill-posed and underdetermined problems by approximating their inversion, effectively emulating a generalized Moore-Penrose pseudoinverse in scenarios where the number of unknowns exceeds the number of equations.
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16. VanDaalen RA, Zhao JL, Hsiao YJE, Karsting H, Cai RY, Kim JP, Fung LK. Exploring Correlations of Unemployment, Underemployment, and Well-Being Among Autistic Job Seekers by Race in the United States. J Autism Dev Disord. 2026.
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17. Wang Q, Su W, Zeng L, Lin X, Yi L. Biased mental face representations of autistic children in the general population. Mol Autism. 2026.
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18. Zeevi D, Acosta-Rodriguez H, Bobba P, Stephan A, Lin H, Malhotra A, Payabvash S. Integrating Multimodal Neuroimaging and Physical-Health Markers for Autism Spectrum Disorder in the ABCD Study. J Integr Neurosci. 2026; 25(2): 48212.
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by diverse presentations, which complicates the identification of consistent biological markers. This study examined whether integrating multimodal neuroimaging and physical-health measures from a population-based cohort can improve ASD classification and reveal interpretable markers that reflect both clinical and community variation. METHODS: Data were drawn from the Adolescent Brain Cognitive Development (ABCD) Study, a large community-based cohort of adolescents recruited from the general population. Participants with and without ASD were selected from this cohort, allowing contrasts that reflect natural variability across individuals. Structural, diffusion, and resting-state functional magnetic resonance imaging (MRI) data were integrated with physical-health markers, including sleep, growth, and early development. Propensity-score matching created demographically balanced groups, and multimodal machine learning models were evaluated through stratified cross-validation. RESULTS: The multimodal integration of brain and physical-health markers outperformed single-modality models (area under the receiver operating characteristic curve [AUC-ROC] = 0.68, 95% confidence interval [CI]: 0.62-0.73; area under the precision-recall curve [AUC-PR] = 0.66, 95% CI: 0.60-0.73). Among physical-health markers, sleep function contributed most strongly to ASD classification, while neuroimaging predictors included cortical thickness in the right superior temporal gyrus and connectivity between the cingulo-opercular and default mode networks. These findings indicate that integrating modalities capturing both neural and physiological systems provides complementary information for identifying ASD-related differences within a population-based framework. CONCLUSIONS: This study provides a proof of concept that combining multimodal MRI and physical-health data within a large, demographically representative cohort can enhance ASD classification and yield biologically interpretable features. The population-based design situates these findings within a community context and offers a preliminary framework for integrating neural and physiological measures in future large-scale studies of neurodevelopmental diversity.
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19. Zheng Y, Yang Y, He L, Chen H, Wang D, Chen Y. A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report. Transl Pediatr. 2026; 15(2): 61.
BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disease with clear diagnostic criteria and mainly affects females. Mutations of the methyl-CpG-binding protein 2 (MECP2) gene cause most RTT cases. While numerous MECP2 mutations have been reported, the pathogenicity of novel identified variants often requires functional validation. To obtain a definite genetic diagnosis result and determine the specific pathogenesis, it is essential to conduct functional validation of the novel mutation. CASE DESCRIPTION: We reported one clinical case of a female child diagnosed with typical RTT. The patient presented with major clinical manifestations, including hand dyspraxia, loss of language ability, stereotypical hand movements, and an abnormal gait. Whole-exome sequencing (WES) was performed on this Chinese trio, which confirmed a novel heterozygous nonsense mutation in exon 1 of the MECP2 gene in the proband. Sanger sequencing confirmed that neither parent carried this variant. Functional validation experiments demonstrated that cells transfected with the mutant recombinant plasmid showed significantly reduced levels of both MECP2 messenger RNA (mRNA) and protein compared to those transfected with the wild-type plasmid. CONCLUSIONS: These functional findings confirm the pathogenicity of this de novo MECP2 nonsense mutation and demonstrate that it leads to a loss of function, a mechanism consistent with nonsense-mediated mRNA decay (NMD). Our study elucidates the genotype-phenotype correlation in this case and provides experimental insight into the underlying molecular mechanism.