Pubmed (TSA) du 30/01/26
1. Al Shaban F, Frazier TW, Ghazal I, Al-Faraj F, Aqel S, Thompson IR. Real-world application of an eye-tracking device for autism screening and diagnosis: a short report from public demonstrations in Qatar, Dubai and the U.S. BMC Psychiatry. 2026.
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2. Bachrach M, Ilan M, Faroy M, Michaelovsky A, Zagdon D, Sadaka Y, Yosef OB, Aran A, Begin M, Zachor D, Avni E, Koller J, Menashe I, Meiri G, Dinstein I. Cognitive Abilities and Irritability Are the Main Factors Influencing Initial Placement of Autistic Preschoolers in Special or Mainstream Education in Israel. Autism Res. 2026.
Following diagnosis, autistic children are often placed in preschool settings that vary along a continuum from exclusive special education to inclusive mainstream education. These settings differ in their staff composition and expertise, ability to implement structured autism interventions, ability to integrate autistic and typically developing children, and costs. Here, we examined whether there were significant differences in the behavioral abilities and developmental difficulties of children placed in special versus mainstream public education in Israel, where there is a systematic dichotomy between the two educational settings. We analyzed data from 165 autistic children, 120 in special and 45 in mainstream education, who completed comprehensive behavioral assessments at a mean age of 37.8 months, as they entered their first preschool setting. Children placed in special education exhibited significantly poorer cognitive abilities and higher irritability and hyperactivity than children in mainstream education while there were no significant differences in autism severity or adaptive behaviors across groups. Moreover, cognitive and irritability scores were sufficient for classifying children across the two settings with an average accuracy of 76.4% when using a pruned decision tree algorithm and a 5-fold cross-validation procedure. These findings extend previous research by demonstrating that cognitive abilities and irritability are the strongest predictors of preschool educational placement. Further longitudinal research is needed to determine whether these placement decisions benefit the children as they develop. Autistic preschoolers are often placed in either special education or mainstream settings soon after diagnosis. We studied 165 children in Israel at an average age of 38 months and found that those in special education had lower cognitive scores and higher irritability than those in mainstream settings, while autism severity and adaptive skills did not differ. A simple model using only cognition and irritability correctly classified most placements. These findings suggest that placement decisions are primarily influenced by cognitive level and irritability, though substantial overlap exists, emphasizing the need for follow‐up studies on which children benefit most from each setting. eng.
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3. Bargagna F, Morin TM, Chen YC, Lila Y, Tseng CJ, Santarelli MF, Vanello N, McDougle CJ, Hooker JM, Zürcher NR. A probabilistic deep learning approach for choroid plexus segmentation in autism spectrum disorder. NPP Digit Psychiatry Neurosci. 2026; 4(1): 2.
The choroid plexus serves as the primary barrier between the brain’s blood and cerebrospinal fluid and mediates neuroimmune function. A subset of individuals with autism spectrum disorder (ASD) may exhibit morphological alterations of the choroid plexus. However, to power larger population analyses, an automated tool capable of accurately segmenting the choroid plexus based on magnetic resonance imaging (MRI) is needed. Automated Segmentation of CHOroid PLEXus (ASCHOPLEX) is a deep learning tool that enables finetuning using new, patient-specific, training data, allowing its usage across cohorts for which the model was not originally trained. We evaluated ASCHOPLEX’s generalizability to individuals with ASD by performing finetuning on a local dataset of ASD and control (CON) participants. To assess generalizability, we implemented a probabilistic version of the algorithm, which allowed us to quantify the uncertainty in choroid plexus segmentation and evaluate the model’s confidence. ASCHOPLEX generalized well to our local dataset, in which all participants were adults. To further assess its performance, we tested the algorithm on the Autism Brain Imaging Data Exchange (ABIDE) dataset, which includes data from children and adults. While ASCHOPLEX performed well in adults, its accuracy declined in children, suggesting limited generalizability to different age groups without additional finetuning. Our findings show that the incorporation of a probabilistic approach during finetuning can strengthen the use of this deep learning tool by providing confidence metrics which allow assessing model reliability. Overall, our findings demonstrate that ASCHOPLEX can generate accurate choroid plexus segmentations in previously unseen data. The choroid plexus plays an important role in brain health and immunity and may be altered in autism spectrum disorder (ASD). To analyze large imaging datasets, a method to automatically delineate this structure is needed. We adapted an existing artificial intelligence tool, ASCHOPLEX, for use in individuals with ASD and made it probabilistic to probe the confidence of its automated segmentations. The results show that ASCHOPLEX can generate accurate choroid plexus segmentations in ASD. eng personal relationships: TMM is a paid consultant for Rocket Science Health. CJM is a paid consultant for Acadia Pharmaceuticals and receives royalty payments from Oxford University Press and Springer Publishing. JMH is co-founder of and equity holder in Eikonizo Therapeutics and Sensorium Therapeutics, where he also serves as CEO. He is an advisor to Rocket Science Health, Human Health, Delix Therapeutics and Psy Therapeutics. All other authors have nothing to disclose.
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4. Burke FF, Randell AM, Sparkes KM, Salia S, Hinks M, Martin Y, Porter Z, Hynes C, Maekawa AS, Sled J, Wilson DR, Kaushik DK, Kakumani PK, Walling SG, Cahill LS, Swift-Gallant A. Perinatal hyperandrogenization and immune activation in rodents model subtypes of autism. Transl Psychiatry. 2026.
Although increased maternal androgens, such as those in polycystic ovary syndrome (PCOS), are associated with a higher incidence of autism spectrum disorder (ASD) in offspring, a causal link has yet to be established. We assessed whether perinatal hyperandrogenization in a murine model recapitulates core ASD traits and compared this model to the maternal immune activation (MIA) model of ASD. Both models produced ASD-like phenotypes, yet they exhibited distinct behavioral subtypes and neurodevelopmental trajectories. Hyperandrogenized offspring showed greater reductions in social communication (neonatal USVs, d = 0.633-0.773; juvenile USVs, d = 1.103-1.216; social preference, d = 0.715), whereas only MIA offspring showed increased repetitive behaviors (d = 0.599). Ex vivo magnetic resonance imaging revealed volume increases in specific cortical regions in both models, with MIA additionally showing absolute cingulate cortex enlargement, and hyperandrogenized mice displaying focal increases in sexually dimorphic regions, despite a 36% reduction in overall brain volume (FDR 10%). Placentas from both groups showed reduced LIX (CXCL5), but distinct immune shifts also emerged: MIA placentas exhibited elevated IL-4 and IL-1β, whereas hyperandrogenized placentas showed increased TNFα. In neonatal brains, both conditions were associated with reduced IL-2, with MIA additionally decreasing IL-17A and IL-12p70, suggesting suppression of Th1/Th17-type cytokine signaling that normally supports proinflammatory and immune-neural interactions. DRD2 and BDNF protein were upregulated in hyperandrogenized fetal brains but downregulated with MIA. These results suggest that hyperandrogenization and MIA act through distinct mechanisms, producing subtle neurodevelopmental and behavioral differences consistent with human ASD subtypes.
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5. Cacciato-Salcedo S, Lao-Rodríguez AB, Malmierca MS. Sex- and etiology-specific effects on predictive processing in the inferior colliculus of two rat models of autism. Commun Biol. 2026.
Atypical sensory processing is a common feature of autism, yet the neural computations that give rise to these differences, particularly in relation to biological sex and etiological origin, remain unclear. Here we examine predictive auditory processing at the single-neuron level in the inferior colliculus of two adult rat models of autism: a genetic model with a heterozygous Grin2b deletion (Grin2b + /-) and an environmental model based on prenatal valproic acid exposure. We recorded neuronal responses to an auditory oddball paradigm and a cascade control sequence across lemniscal and non-lemniscal IC divisions under high-intensity stimulation, allowing us to derive indices of repetition suppression, prediction error and neuronal mismatch. Using generalized linear mixed-effects models that accounted for animal identity, inferior colliculus division, sex, and rat model, followed by hierarchical group-level comparisons, we identified robust alterations in predictive processing in both autism-like models. These effects varied across inferior colliculus divisions and differed between sexes, revealing distinct phenotype-specific signatures. The results indicate that sex and etiology jointly modulate early auditory computations in autism. More broadly, our findings highlight the translational value of predictive coding frameworks and support the use of complementary animal models to capture neurobiological heterogeneity across the autism spectrum.
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6. Cazares C, Hutton A, Paez G, Trauner D, Voytek B. Cannabidiol blood metabolite levels after cannabidiol treatment are associated with broadband EEG changes and improvements in visuomotor and non-verbal cognitive abilities in boys with autism requiring higher levels of support. Transl Psychiatry. 2026.
Oral cannabidiol (CBD) treatment has been suggested to alleviate severe symptoms of autism spectrum disorder (ASD). While many CBD preparations have been studied in clinical trials involving ASD, none has used purified CBD preparations or preparations approved by the U.S. Food and Drug Administration, nor have they focused on children with ASD with higher support needs. Previous studies have identified several candidate electrophysiological biomarkers of cognitive and behavioral disabilities in ASD, with emerging biomarkers including periodic (oscillatory) and aperiodic measures of neural activity. We analyzed electroencephalography (EEG) recordings from 24 boys with ASD and higher support needs (aged 7-14 years) from a prior double-blind, placebo-controlled, crossover Phase II Clinical Trial (NCT04517799) that investigated whether 8 weeks of daily CBD treatment (up to 20 mg/kg/day) improved severe behavioral problems, measured at baseline, post-CBD, post-placebo, and post-washout. Using linear mixed effect models, we found that aperiodic EEG measures varied with CBD metabolite levels in blood, as evidenced by a larger aperiodic offset across the scalp and a decreased aperiodic exponent across occipital electrodes. Furthermore, CBD metabolite levels in blood had a positive association with receptive vocabulary, nonverbal intelligence and visuomotor coordination. Our data suggest that this daily CBD preparation and administration schedule produced mixed effects, with some children showing improvements in cognitive and behavioral abilities while others demonstrated limited changes. Our findings support the inclusion of aperiodic EEG measures alongside traditional oscillatory EEG measures as candidate biomarkers for tracking the variable clinical impact of purified CBD treatment in children with ASD.
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7. Elamin NE, Abdulmaged DA, Al-Ghamdi F, Al-Ghamdi H, Halepoto DM, Al-Ayadhi LY. Plasma clusterin levels in autism spectrum disorder: bridging biomarkers to social and cognitive dysfunctions. BMC Pediatr. 2026.
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8. Espinosa GH, Burke MM, Hodapp RM. Navigating Adult Disability Services by Latino Families of Youth with Autism. J Dev Phys Disabil. 2025.
Compared to the general population, Latino families of youth with autism face unique barriers in accessing adult disability services. Barriers include limited access to resources in Spanish and discrimination. By characterizing specific barriers to advocacy abilities, including knowledge about adult disability services, advocacy skills and comfort, and empowerment, targeted interventions can be developed to improve service access among Latino families. In this study, we examined the responses of 45 Latino caregivers (primarily mothers) before completing a 12-week advocacy program. Results demonstrated significant positive correlations between comfort in advocating for services and their sense of empowerment. Greater proficiency with the English language positively correlated with advocacy skills and comfort. Compared to empowerment within systems (e.g., service delivery systems, the community/political system), participants demonstrated significant strengths in family empowerment. Findings from this study shed light on the importance of designing culturally responsive resources for Latino families.
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9. Figueiredo CL, Souza NS, Ribeiro AC, Buboltz FL, Santos HTQ, Neves ET. Assistance to children with Autism Spectrum Disorder: perceptions of healthcare professionals in a Pediatric Emergency Room. Rev Esc Enferm USP. 2026; 60: e20250350.
OBJECTIVE: To understand the care provided to children with Autism Spectrum Disorder (ASD) in a Pediatric Emergency Room from the perspective of healthcare professionals. METHOD: Qualitative research grounded in the framework of comprehensive care. Narrative interviews were conducted with 17 professionals from the nursing and medical staff of the Pediatric Emergency Room from March to May 2024. The interviews were subjected to inductive thematic analysis. The project was approved by the Research Ethics Committee. RESULTS: The study highlighted three categories: professionals’ perceptions of families facing stress and a lack of knowledge about ASD; weaknesses in care, marked by the absence of protocols, difficulties in coordination within Health Care Networks (RAS), structural limitations, and insufficient nursing staffing; and strategies adopted, such as family collaboration, environmental adaptations, and flexibility in rules. CONCLUSION: Caring for children with ASD presents structural, organizational, and educational challenges that compromise the comprehensiveness of care. It is suggested that investments be made in continuing education, infrastructure improvements, and person-centered care practices, in accordance with the principles of the Brazilian Public Health System (SUS).
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10. Graham Holmes L, Qian Y, Ames JL, Caplan R, Fraser C, Gassner D, Giwa Onaiwu M, Hunter M, van der Miesen AIR, Nebeker L, Taylor R, Croen LA. Mental and Physical Health Conditions Among Sexually Diverse and Gender-Diverse Autistic Adults. LGBT Health. 2026: 23258292251414440.
PURPOSE: The purpose of the study was to investigate mental and physical health diagnoses for sexually diverse and/or gender-diverse (SGD) autistic adults. METHODS: We conducted a cross-sectional study using electronic health record (EHR) data from Kaiser Permanente Northern California. Participants were individuals with an autism diagnosis enrolled in the health plan between 2015 and 2019. SGD individuals were identified via sexual orientation and gender identity data or a stepwise methodology involving computerized searches of the EHR. Diagnostic codes for mental and physical health conditions were examined during the study period. RESULTS: Of 4159 autistic participants, n = 122 were identified as sexually diverse and n = 90 as gender diverse. Using multivariable logistic regression models adjusted for age, race/ethnicity, and gender identity, we found that both the sexually diverse and gender diverse groups had greater odds of mental health diagnoses compared with individuals not identified as SGD. Sexually diverse adults had greater odds of alcohol or drug dependence, and gender-diverse adults had greater odds of other psychoses compared with individuals not identified as SGD. Both sexually diverse and gender diverse groups had greater odds of some physical health diagnoses, including pain not elsewhere classified, migraines, and gastrointestinal disorders, compared with individuals not identified as SGD. CONCLUSION: SGD autistic adults had greater odds of diagnosis of some mental and physical health conditions than autistic adults not identified as SGD, warranting further research on structural and interpersonal factors that affect their well-being and how best to support them.
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11. Halepoto DM, Al-Ayadhi L, Alhowikan A, Elamin N, Abdulmaged D, Halepota A, Al-Mazidi S. Correlation Between A Disintegrin and Metalloproteinase (ADAM) Family Proteins (8, 10, 17, 22) and Link with Neuroplasticity in Autism Spectrum Disorder. Curr Issues Mol Biol. 2025; 47(12).
Background: Autism spectrum disorder (ASD) is a condition related to neurodevelopment, typically identified by impaired social interactions and repetitive stereotypical behaviors. The etiology of ASD is not well known, but neuroplasticity has been suggested to play a pathological role. A disintegrin and metalloproteinases (ADAMs) are multifunctional transmembrane proteins that are important for development, communication, and plasticity in the nervous system. This study aimed to determine the correlations among ADAM proteins (ADAM-8, 10, 17, and 22) in children with ASD and to discuss their potential roles as molecular contributors to processes underlying neuroplasticity. Methods: The Spearman correlation coefficient (r) between plasma levels of ADAM 8, 10, 17, and 22 in children with ASD (n = 40) was obtained using the Statistical Package for the Social Sciences software, SPSS. Results: A significant correlation was obtained between plasma levels of the ADAM 8 and ADAM-17 (r = 0.523, p ≤ 0.001); ADAM 8 and ADAM 22 (r = 0.576, p ≤ 0.001); and ADAM 17 and ADAM 22 (r = 0.489, p ≤ 0.001). However, no significant correlation between ADAM 10 and ADAM 8 (r = -0.147, p = 0.372); ADAM-17 (r = -0.143, p = 0.378), and ADAM-22 (r = -0.066, p = 0.684), was obtained. Conclusions: This study provides the first evidence of associations among circulating ADAM proteins (ADAM-8, ADAM-17, and ADAM-22) in children with ASD, suggesting their potential molecular involvement in pathways related to neuroplasticity. Further studies with larger cohorts and direct neuroplasticity measures are needed to clarify these relationships and their relevance to ASD pathophysiology.
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12. Long J, Liao X, Han K, Chen J, Tang Z, Wang W, Wang X, Chi Q, Zhang X, Zhang H. Microbiota-gut-brain axis and neuroendocrine pathways underlie divergent mechanisms of intermittent and continuous theta-burst stimulation in autism spectrum disorder. Cell Mol Life Sci. 2026.
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13. Marchionni E, Colona VL, Agolini E, Murdocca M, Russo M, Stellato M, Latini V, Campione E, Nardone AM, Spitalieri P, Mazzone L, Novelli A, Sangiuolo F, Novelli G. A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies. Neurogenetics. 2026; 27(1): 11.
De novo KCNA3 variants cause a Developmental and Epileptic Encephalopathy (DEE). We describe a 14-year-old boy presenting with DEE and carrying a heterozygous de novo KCNA3 (NM_002232.4) variant (c.1433T>A, p.Val478Glu) and an inherited KCNQ3 (NM_004519.3) variant (c.1720C>T, p.Pro574Ser). Human dermal fibroblasts (HDFs) were isolated from the patient and an age-matched control. KCNA3 and KCNQ3 transcript levels were quantified by qRT-PCR, showing in patient-HDFs a reduction of 77% and 40%, respectively (p < 0.0001; p = 0.0002). Western blot confirmed decreased KCNA3 and KCNQ3 protein levels by 50% and 35%, respectively (p < 0.05). The contributing role of both variants supports the rationale for a channel-targeted treatment strategy.
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14. O’Leary K. New analysis shows no link between autism and paracetamol. Nat Med. 2026.
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15. Ong JJ, Cheng XL, Chok M, Hashim J, Choo YX, Gan YZ, Ng DCE. Developmental and emotional behavioural outcomes after COVID-19 febrile seizures: A single-centre experience. Med J Malaysia. 2026; 81(1): 27-33.
INTRODUCTION: Children with febrile seizures often experience favourable long-term outcomes. However, the outcomes of COVID-19 febrile seizures remain uncertain. The study investigated the developmental and emotional/behavioural outcomes of children with and without COVID-19, presenting with febrile seizures. MATERIALS AND METHODS: Participants were families of children with febrile seizures admitted from January to April 2022, during the peak of COVID-19 Omicron variant infection cases. The children were assessed 9-18 months after the seizure event, using the Schedule of Growing Skills II developmental screening tool and their parents completed the Strengths and Difficulties Questionnaire, a measure of emotional/behavioural outcome. A child with positive COVID-19 is characterised by the presence of respiratory symptoms and a positive COVID-19 rapid antigen test. We compared the outcomes of children with and without COVID- 19 using Fisher’s exact test and Mann-Whitney U test. RESULTS: Twenty-two families, with 15 (68.2%) COVID-19 and 7 (31.8%) non-COVID-19 febrile seizures participated in the study. A substantial proportion of children from both groups were delayed in various developmental domains (13.6- 27.3%), with 9 (40.9%) delayed in 2 or more domains and 2 (9.1%) experienced emotional behavioural difficulties. Children with COVID-19 febrile seizures were not more likely to have developmental delay and emotional/behavioural difficulties. CONCLUSIONS: Children with COVID-19 febrile seizures were not at greater risk of developmental delay or emotional/behavioural difficulties. Further longitudinal studies with a larger sample size are warranted.
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16. Pagán AF, Ortiz M, Bernal E, Loveland KA, Esparza A, Montiel-Nava C, Acierno R. Acculturation, values, and acculturative stress for autistic Latino emerging adults and Spanish-speaking parents participating in the ¡Iniciando! la Adultez program. J Dev Phys Disabil. 2025; 37(6): 1041-72.
Latino families with emerging adults diagnosed with Autism Spectrum Disorder (ASD) face unique challenges during the transition to adulthood, influenced by cultural values, acculturation, and systemic barriers. Acculturation and acculturative stress are particularly relevant in this population, as they navigate cultural adaptation while maintaining traditional values like familismo (family) and respeto (respect). These dynamics are further complicated by disparities in access to resources and culturally responsive interventions. This study explores the interplay of cultural values, acculturation, and acculturative stress among Latino emerging adults with ASD and their Spanish-speaking parents participating in a culturally adapted and translated intervention. Using a cross-sectional design, we examined data from 26 emerging adults (18-25 years old) and 38 of their parents, assessing cultural values, acculturation levels, acculturative stress, and outcomes. Findings revealed significant acculturative stress in both emerging adults and parents, particularly related to intercultural relations, language, and discrimination. Strong traditional cultural values, such as familismo and respeto, were prevalent and influenced family dynamics and adaptive functioning during the transition to adulthood. A divergence in acculturation levels was noted, with emerging adults displaying higher acculturation, especially in language and social relations. The findings have implications for understanding emerging adulthood and the development of culturally tailored interventions for Latino emerging adults and their parents.
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17. Rajasingham M, Lisonkova S, Razaz N, Muraca GM. Long-Term Neurodevelopmental Outcomes After Forceps, Vacuum, and Second-Stage Cesarean Delivery. JAMA Netw Open. 2026; 9(1): e2556637.
IMPORTANCE: Prior studies have compared neurodevelopmental outcomes across delivery modes that are not interchangeable (eg, operative vs spontaneous vaginal delivery [SVD]), limiting the clinical utility of their conclusions. OBJECTIVE: To examine the association between mode of operative delivery in the second stage of labor and attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID) in children. DESIGN, SETTING, AND PARTICIPANTS: This population-based, retrospective cohort study used data from health administrative databases from British Columbia, Canada, from April 1, 2000, to December 31, 2019. The population included 504 380 nonanomalous, singleton, full-term infants who survived and did not emigrate during their first year of life. Neurodevelopmental outcomes were collected through March 31, 2022, and analyses were performed from June 2024 to August 2025. EXPOSURE: Delivery mode during the second stage of labor, categorized as SVD, forceps, vacuum, sequential instrument, or second-stage cesarean delivery (SSCD). MAIN OUTCOMES AND MEASURES: The main outcome was ADHD, ASD, and ID from 1 year to a maximum of 22 years of age. Cox proportional hazards regression models were used to assess the association between mode of operative delivery (SVDs excluded) and each neurodevelopmental outcome, adjusting for maternal and clinical characteristics. RESULTS: Among 504 380 children (253 256 males [50.2%] and 44 202 [8.8%] with a maternal history of neurodevelopmental or psychiatric disorders), 407 792 (80.9%) were delivered by SVD, 46 493 (9.2%) by vacuum, 23 140 (4.6%) by forceps, 3009 (0.6%) by sequential instrument, and 23 946 (4.7%) by SSCD. The overall rate of ADHD was 6.6 (95% CI, 6.5-6.7) per 1000 person-years; ASD, 1.8 (95% CI, 1.7-1.8) per 1000 person-years; and ID, 0.3 (95% CI, 0.2-0.3) per 1000 person-years. Compared with SSCD, children who underwent sequential instrument delivery had a 13% higher ADHD rate (7.9 [95% CI, 7.1-8.8] vs 6.6 [95% CI, 6.3-6.9] per 1000 person-years; adjusted hazard ratio [AHR], 1.13 [95% CI, 1.00-1.28]) and those who underwent vacuum delivery had a 53% higher ID rate (0.3 [95% CI, 0.3-0.4] vs 0.2 [95% CI, 0.1-0.3] per 1000 person-years; AHR, 1.53 [95% CI, 1.12-2.10]). There was no significant association with ASD and mode of delivery. CONCLUSIONS AND RELEVANCE: The findings of this cohort study suggest that children who underwent operative vaginal delivery and SSCD had comparable neurodevelopmental outcomes, except among those who underwent sequential instrument delivery and vacuum delivery, which were associated with ADHD and ID, respectively. Further research is warranted to develop a better understanding of delivery mode as a potentially modifiable risk factor for neurodevelopmental disorders in childhood.
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18. Sforza G, Voci A, Tonietti V, Racioppi G, Proietti Checchi M, Valeriani M, Mazzone L, Cicala M, Emberti Gialloreti L, Moavero R. Quality of life and disease burden in tuberous sclerosis and comparison with the population with idiopathic autism spectrum disorder: an investigation conducted through questionnaires and clinical data collection in the pediatric population. Front Psychiatry. 2025; 16: 1730160.
INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare genetic disease involving major neurological and neuropsychiatric symptoms that can impact quality of life. This study aimed to examine the quality of life and disease burden of a pediatric TSC cohort and compare them with those of a population of individuals with idiopathic autism spectrum disorder (ASD). METHODS: Caregivers completed the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist and the Pediatric Quality of Life Inventory™ (PedsQL) Report. To examine quality of life, caregivers also completed the TSC Quality of Life (TSCQoL) questionnaire, which was created specifically for this study to investigate the emotional, economic, and time-related impact of TSC. We recruited 66 individuals with TSC (average age, 9.8 ± 4.5 years) and 63 individuals with idiopathic ASD (8.4 ± 4.4 years). RESULTS: We found a reduction in quality of life and a significant economic investment in 50% and 55% of TSC patients, respectively. These aspects were significantly more prevalent in individuals with cognitive impairment, ASD, sleep disorders, and epilepsy. Individuals with idiopathic ASD exhibited worse quality of life in the social domain (p = 0.004), while the syndromic ASD group demonstrated worse overall quality of life (p = 0.041) and experienced a greater loss of school days (p = 0.039). DISCUSSION: Despite its lack of validation, the TSCQoL scale was established as an exploratory tool that consistently highlighted, along with the PedsQL, clinical factors that most impact quality of life. Quality of life was low in the TSC population, and this was strongly correlated with neuropsychiatric manifestations and epilepsy. Through comparison with idiopathic ASD, we observed a greater impact of the syndromic condition on disease burden.
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19. Xuhui M, Xue Z, Yongbo S, Ying N, Lanmin G. Network meta-analysis of the effects of digital interventions on social functioning in children with autism spectrum disorder. Asian J Psychiatr. 2026; 117: 104855.
OBJECTIVE: This study performed a network meta-analysis of randomized and matched controlled trials to evaluate the effects of digital interventions on social functioning in children with autism spectrum disorder (ASD), compare the relative efficacy across digital modalities, and generate evidence to inform clinical decision-making and future research. METHODS: Following PRISMA-NMA guidelines, we systematically searched PubMed, Embase, Web of Science, Cochrane CENTRAL, and CINAHL for randomized or matched controlled trials evaluating digital interventions in children with ASD. The primary outcome was social functioning, and the secondary outcome was the dropout rate.A frequentist random-effects network meta-analysis was performed. Surface under the cumulative ranking curve (SUCRA) values were used to rank the interventions, and the certainty of evidence was assessed using the CINeMA framework. RESULTS: Twenty trials involving 912 children with ASD were included in the analysis. The network meta-analysis indicated that all categories of digital interventions were generally well tolerated, with low dropout rates and no statistically significant differences between groups. For social functioning, computer-based intervention plus treatment as usual (CBI+TAU; SMD = 0.99, 95 % CI: -0.02 – 2.20), robot-based intervention plus treatment as usual (RBI+TAU; SMD = 0.72, 95 % CI: 0.15 – 1.30), and computer-based intervention (CBI; SMD = 0.84, 95 % CI: 0.44 – 1.24) demonstrated trends toward superiority over control conditions. CBI+TAU showed the largest point estimate and ranked highest in SUCRA; however, its effect estimate was imprecise and did not reach statistical significance. Although virtual reality-based interventions (VBI) and mobile-based interventions plus treatment as usual (MBI+TAU) ranked lower, both demonstrated meaningful clinical potential. CONCLUSIONS: Digital interventions provide measurable benefits for improving social functioning in children with ASD and are generally well tolerated. CBI+TAU ranked highest in SUCRA; however, its effect estimate was imprecise and did not reach statistical significance, indicating substantial uncertainty. Therefore, SUCRA rankings should be interpreted as indicative of relative tendencies rather than definitive evidence of superiority. Despite limited direct evidence, VBI and MBI show considerable promise, particularly for home-based implementation. Clinically, CBI+TAU may be considered a promising option; however, its role as a core intervention should be interpreted cautiously until supported by larger, adequately powered trials. Other digital modalities, including RBI, MBI, and VBI, may serve as complementary components within multimodal intervention frameworks.
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20. Yu X, Zhong J, Lin Z, Fu H, Zhang Y. Post-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS). Front Pharmacol. 2026; 17: 1643906.
OBJECTIVE: Rett syndrome (RTT) is a severe, rare and chronic disease that necessitates long-term treatment. In March 2023, trofinetide was approved by the US Food and Drug Administration as the first treatment for RTT. Because of the constraints of clinical trials, certain delayed and infrequent adverse events (AEs) may go unreported, especially in orphan disease. Further research is required to investigate the potential AE signals of trofinetide in real-world scenarios, identify rare and severe AEs associated with this treatment, and promote the safe use of trofinetide among RTT patients. METHODS: The data were extracted from the FAERS database from the first quarter of 2023 to the fourth quarter of 2024. Signal mining was conducted using frequency and Bayesian methods to identify positive signals associated with trofinetide. In order to obtain similar reports, the generic name « trofinetide » and commercial name « DAYBUE » were utilized. RESULTS: A total of 3,293,302 AE reports were collected, with 15,266 AE reports from 2,824 patients related to trofinetide designated as the primary suspected drug. All the reports were from the United States. Signal mining identified 25 system organ classes (SOCs), involving 155 preferred terms (PTs). Gastrointestinal disorders had the highest report count, with diarrhoea being the most prominent AE with high report numbers and signal strength. Several noteworthy AEs except for gastrointestinal disorders were identified which are not included on the drug label, such as nasopharyngitis, decreased appetite, weight decreased, gastroenteritis viral, influenza and irritability. Time-to-onset analysis shows that most AEs occurred in 0-30 days. CONCLUSION: This study unveils certain potential risks associated with trofinetide in real-world applications. Medical staffs should pay more attention to AEs of patients on the first month.