Pubmed (TSA) du 21/04/26
1. Corrigendum to « Predictors of employment status among adults with Autism Spectrum Disorder ». Work;2026 (Apr 21):10519815261440612.
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2. Alfakeh S, Aljahdali GH, Benfeef ST. Caregiver mental health burden in families of children with autism in Saudi Arabia. Discov Ment Health;2026 (Apr 21);6(1)
BACKGROUND: In the Arab world, and especially the gulf region, the absence of well-established support and research systems for caregivers of people with Autism Spectrum Disorder creates substantial challenges. To understand and help caregivers, it is important to understand the interaction between the caregivers, the family constellation, and the resulting outcomes for the child. OBJECTIVES: This research focused on understanding the impact of caregiver demographic and child-specific factors and family dynamics on child autism severity and caregiver mental health. METHODOLOGY: From a cross-sectional study covering 104 caregivers in Saudi Arabia, research for caregiver mental health (PHQ-9, GAD-7 scale), child characteristics and family dynamics was carried out through structured questionnaires. The statistical methods then applied were Spearman correlation, ANOVA and t tests. RESULTS: Compared to fathers, mothers demonstrated a greater prevalence of anxiety (12.5%) and depression (6.7%). Caregiver anxiety was more pronounced when therapy was longer (ρ = 0.271, p = 0.005). Child symptoms were a primary factor regarding caregiver distress. Family size, birth order, and prenatal factors were found to have a minimal effect on autism severity and mental health of the caregiver. CONCLUSION: Findings clearly highlight the need for culturally appropriate interventions and specialized support programs to deal with the caregiver mental health crisis in the Arab world.
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3. Baykan M, Baykan Çopuroğlu Ö, Yıldız Y, Brady NC. Cross-Cultural Adaptation and Psychometric Validation of the Communication Complexity Scale (CCS) in Minimally Verbal Turkish Children. Int J Lang Commun Disord;2026 (May-Jun);61(3):e70250.
OBJECTIVE: This study aimed to translate, culturally adapt, and psychometrically validate the Turkish version of the Communication Complexity Scale (CCS) for minimally verbal children with autism spectrum disorder (ASD) and developmental delay (DD). METHODS: A total of 130 children aged 24-60 months (diagnosed according to DSM-5 criteria and recruited from developmental podiatric clinics) with fewer than 20 functional words (as verified through caregiver report and direct clinical observation) completed CCS sessions that were video-recorded and independently coded. Reliability was assessed using intraclass correlation coefficients (ICC), Cohen’s kappa, and test-retest correlations. Concurrent validity was examined through correlations with the Turkish versions of the Communicative Development Inventory (CDI) and the Test of Early Language Development (TELD). Construct validity was tested with exploratory and confirmatory factor analyses (CFA). Known-groups validity compared Behaviour Regulation (BR) and Joint Attention (JA) scores between ASD and DD groups. RESULTS: Most children demonstrated intentional non-symbolic communication, confirming the scale’s sensitivity to minimally verbal behaviours. Inter-rater reliability was excellent (ICC = 0.86-0.91), and test-retest stability was strong (r = 0.88-0.93). CCS scores showed moderate correlations with standardized language measures (r = 0.39-0.42). CFA supported a one-factor model (RMSEA = 0.06; CFI = 0.93). Children with ASD had higher BR scores, whereas children with DD showed higher JA scores. CONCLUSION: The Turkish CCS is a reliable, valid, and culturally appropriate tool for assessing communication complexity in minimally verbal children. Its sensitivity to non-symbolic and emerging symbolic behaviours support its use in clinical evaluation, individualized intervention planning, and cross-cultural research. WHAT THIS PAPER ADDS: What is already known on this subject Minimally verbal children with autism spectrum disorder and developmental delay often communicate through non-symbolic behaviours such as gestures, eye gaze, and coordinated actions rather than spoken language. Conventional language assessments primarily target verbal output and therefore underestimate early communicative competence in this population. The Communication Complexity Scale (CCS) is an observational measure designed to capture hierarchical communicative behaviours from pre-intentional to emerging symbolic levels and has demonstrated strong reliability, validity, and sensitivity to change in English- and Mandarin-speaking populations. What this study adds to the existing knowledge This study provides the first culturally adapted and psychometrically validated Turkish version of the Communication Complexity Scale. The Turkish CCS demonstrated excellent inter-rater and test-retest reliability, strong construct validity supported by confirmatory factor analysis, and meaningful concurrent validity with standardized Turkish language measures. The scale successfully differentiated communication profiles between children with autism spectrum disorder and developmental delay, confirming its diagnostic sensitivity. These findings establish the Turkish CCS as a robust, culturally appropriate observational tool for assessing communication complexity in minimally verbal Turkish-speaking children. What are the potentials or actual clinical implications of this study? The Turkish CCS enables clinicians to systematically assess early communicative behaviours in minimally verbal children who cannot be accurately evaluated using standard language tests. By capturing intentional non-symbolic and emerging symbolic communication, the scale supports individualized intervention planning, goal setting, and progress monitoring. Its strong reliability and diagnostic sensitivity make it suitable for multidisciplinary clinical settings and early intervention programs. The availability of a validated Turkish CCS also facilitates inclusion of Turkish-speaking children in international research and promotes standardized, strengths-based communication assessment in clinical practice.
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4. Bazbaz W, Kartawy M, Khaliulin I, Amal H. Nitric oxide inhibition ameliorates cortical proteomic changes in the Cntnap2(-/-) and Shank3(Δ4-22) mouse models of autism spectrum disorder. Mol Autism;2026 (Apr 20);17(1)
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component, and over a thousand associated genes have been identified, including CNTNAP2 and SHANK3. Our previous work using Cntnap2(-/-) and Shank3(Δ4–22) ASD mouse models implicated dysregulated nitric oxide (NO) signaling in ASD-related behaviors, which were improved by inhibition of neuronal nitric oxide synthase (nNOS) with 7-Nitroindazole (7-NI). However, the molecular mechanisms linking NO signaling to ASD pathology remain poorly defined. METHODS: We performed mass spectrometry-based global proteomic profiling of cortical tissue from both mouse models under baseline conditions and following 7-NI treatment. Systems biology and bioinformatics analyses were used to identify differentially expressed proteins, enriched pathways, and treatment-responsive networks. Cross-model comparisons were performed to assess molecular convergence and overlap with human ASD-risk genes. Behavioral and biochemical assessments were reanalyzed to evaluate ASD-like phenotypes and treatment effects. RESULTS: Treatment with 7-NI improved ASD-like behavioral deficits in Cntnap2 and Shank3 mutant mice, including increased sociability and reduced anxiety-like behavior. 7-NI was also associated with attenuation of cortical protein alterations across synaptic, neuronal, and metabolic pathways, shifting subsets of dysregulated proteins toward wild-type expression levels. Despite distinct genetic mutations, the two models converged at the protein and pathway levels, including treatment-responsive proteins encoded by high-confidence human ASD risk genes. LIMITATIONS: Analyses were restricted to cortical tissue; additional brain regions may reveal complementary mechanisms. Mass spectrometry may underrepresent low-abundance proteins; larger sample sizes could improve statistical power. Potential off-target effects of 7-NI should also be considered. CONCLUSIONS: These findings show that nNOS inhibition improves ASD-like behaviors and is associated with partial normalization of altered cortical proteins across two genetically distinct ASD mouse models that display convergent molecular changes, including proteins encoded by high-confidence ASD risk genes. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-026-00716-1.
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5. Chen L, Zhong Z, Jiang W. The Approximate Number System and Mathematical Abilities in Chinese Preschoolers With and Without Autism Spectrum Disorder. J Intell;2026 (Apr 21);14(4)
Mathematical abilities are critical for the developmental outcomes of children with autism spectrum disorder (ASD). However, little is known about these abilities and their association with the approximate number system (ANS) in preschoolers with ASD beyond Western samples, including Chinese children. This cross-sectional study examined whether formal and informal mathematical abilities differed between children with and without ASD and assessed the extent to which these abilities were associated with ANS acuity. Participants included 47 children with ASD and 47 typically developing (TD) children aged 3-7 years. All children were assessed on measures of formal and informal mathematical abilities, ANS acuity, and non-verbal IQ. No significant group differences in mathematical abilities were found among children aged 3-5 years. However, among children aged 6-7 years, the ASD group showed significantly lower performance in mathematical abilities compared to their TD peers. ANS acuity was significantly correlated with both formal and informal mathematical abilities in the ASD group, but only with informal mathematical abilities in the TD group. Furthermore, ANS acuity accounted for 5.4% of the unique variance in formal mathematical abilities specifically within the ASD group. The patterns of mathematical abilities and their relationship with ANS acuity differ between preschoolers with and without ASD. These findings suggest a differential association between ANS and formal mathematics learning in children with ASD, highlighting implications for the design of early numeracy interventions.
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6. Groves L, Davies G, Oliver C, Allen D, Bamford C, Bell L, Brown C, Cooper V, Daniel L, Garstang J, Jones C, McCleery JP, Liew A, Rose J, Simkiss D, Steenfeldt-Kristensen C, Welham A, Richards C. The Development and Validation of Models of Risk for Behaviours That Challenge in Children With Developmental Disabilities: A Novel Machine Learning Approach. J Intellect Disabil Res;2026 (Apr 21)
BACKGROUND: Children with developmental disabilities show a high prevalence of behaviours that challenge (BtC). Thus, harnessing known risk markers to target early intervention to children at the greatest risk of BtC is essential. In this study, machine learning techniques were used to develop prediction models of risk (no, low and high severity behaviour) for different BtC (self-injurious behaviour, aggression, property destruction, ‘any BtC’). A secondary aim was to assess the external validation of these models to predict future behaviour. METHOD: Caregivers of individuals with developmental disabilities completed the Self-injury, Aggression and Destruction Screening Questionnaire. One dataset (n = 778) was used to train and test models to establish internal validation. Algorithms were created using random forest classifiers, K-nearest neighbours, multiple logistic regressions and Gaussian mixture models (GMM) for each type of behaviour. External validation utilising a second dataset of caregivers (n = 121) completing the SAD-SQ at baseline and 12 months later was then conducted. OUTCOMES: Across internal and external validation, the random forest classifiers and GMM algorithms for any BtC showed the highest number of correct classifications with fair to good recall and precision, with 83.5% of people at risk of BtC correctly predicted. Predictions of persistence and incidence of behaviour over 12 months was also good (83.5% and 83.3%, respectively). INTERPRETATION: The novel prediction models showed the ability to predict BtC for children with developmental disabilities. Such models have applicability to clinical practice to inform provision of early preventative interventions for BtC.
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7. Hart LC, Sirrianni J, Rust S, Hanks C. Testing for Lipid Levels and Diabetes among Autistic Youth who are and are not Prescribed Anti-Psychotics: A Cohort Study. Am J Prev Med;2026 (Apr 21):108389.
INTRODUCTION: Autistic youth have higher rates of hyperlipidemia and diabetes than non-autistic youth and thus need age-appropriate monitoring for hyperlipidemia and diabetes. Little is known about how frequently autistic youth are monitored for these conditions. METHODS: This analysis assessed monitoring for hyperlipidemia and diabetes among 230 autistic youth ages 16 to 30 years (113 were prescribed anti-psychotics, 117 were not) between January 2011 and May 2020. Outcomes assessed included the proportion of patients who had ANY testing for hyperlipidemia and diabetes in both groups, proportion of prescriptions monitored for hyperlipidemia and diabetes in the last year, and identification of patient factors associated with monitoring. RESULTS: A significantly higher proportion of autistic youth prescribed anti-psychotics had testing for both hyperlipidemia and diabetes during the study period than autistic youth who were not (73% vs. 49%, p< 0.001). While most autistic youth who were prescribed anti-psychotics had some monitoring done, of the 1538 prescriptions for anti-psychotics (new and renewal) identified, 847 (55%) were considered unmonitored. Having other bloodwork done was significantly associated with higher odds of testing for hyperlipidemia or diabetes (OR 1.45, 95% CI [1.37, 1.56]), but not other factors assessed. CONCLUSIONS: Most autistic youth prescribed anti-psychotics in this cohort underwent some monitoring for hyperlipidemia and diabetes, but not at a level consistent with guidelines. Many autistic youth not prescribed anti-psychotics are not getting testing for hyperlipidemia or diabetes. Providers should consider adding lipid and diabetes testing to other bloodwork, as this was positively associated with monitoring in this analysis.
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8. Högstedt E, Igelström K, Korhonen L, Käcker P, Björk M. Work-related support for autistic individuals: patterns and perceived relevance. Disabil Rehabil;2026 (Apr 20):1-14.
PURPOSE: Autistic individuals often face challenges in securing and maintaining employment, despite substantial societal investments in support. However, limited research exists on the nature, sources, and perceived effectiveness of this support. To improve employment outcomes, it is essential to understand how autistic individuals experience and evaluate the support they receive. This study investigates the work-related situation of Swedish adults with a clinically confirmed autism diagnosis, compares support patterns between employed and unemployed individuals, and describe perceptions of support. MATERIALS AND METHODS: A survey was distributed in collaboration with seven psychiatric outpatient clinics in southeastern Sweden, targeting autistic individuals aged 25-35 years. A total of 227 participants completed the survey. Data were analyzed using quantitative statistical methods and qualitative content analysis. RESULTS: Fewer than half of the participants reported current employment. About half had received work-related support. Both employed and unemployed individuals reported similar types of support. While some found the support helpful, many described unmet needs and criticized its relevance, timing, and lack of autism-specific understanding among professionals. CONCLUSION: Current support structures require adaptation, and highlight the need for autism-informed, individualized approaches to support sustainable employment. These findings highlight the importance of developing more responsive and individualized support systems. Autistic individuals often receive support that is poorly timed or not adapted to their needs, indicating that tailored and sustained support is crucial for entering and remaining in employment.Professionals who provide work‑related support often lack autism‑specific knowledge, suggesting that training in neurodiversity and communication strategies may improve rehabilitation outcomes.Support is frequently fragmented across sectors, demonstrating the need for coordinated efforts between healthcare, employment services, and municipalities to ensure effective rehabilitation. eng
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9. Joo MA, Kang NR, Kim JY, Lee HJ. Time Trends in the Comorbid Psychiatric Disorders Among Children and Adolescents With Intellectual Disability in Korea: A Nationwide Study From 2012-2021. J Korean Med Sci;2026 (Apr 20);41(15):e126.
BACKGROUND: Children and adolescents with intellectual disability (ID) frequently experience various comorbid psychiatric symptoms. However, research on the comorbidity of psychiatric disorders in this population remains limited. In this study, we aimed to comprehensively examine the prevalence of psychiatric disorders among children and adolescents with ID in South Korea from 2012 to 2021. METHODS: We obtained data from the National Health Insurance Service-National Health Information Database (NHIS-NHID) on individuals aged 2-18 years who were diagnosed with ID (F70-F79.9) between 2012 and 2021. Psychiatric disorders were identified using the following the International Classification of Diseases, 10th Edition codes: attention-deficit/hyperactivity disorder (ADHD) (F90), autism spectrum disorder (ASD) (F84), language disorder (F80), tic disorders (F95), anxiety disorders (F401-F402, F410-F411, F930-F932), depressive disorder (F32, F33), conduct disorder (F918, F928, F911), and oppositional defiant disorder (ODD) (F913). We analyzed the annual prevalence of comorbid psychiatric disorders. RESULTS: Throughout the study period, males consistently outnumbered females (62.6-65.5% vs. 34.5-37.4%). ADHD had the highest prevalence among psychiatric disorders, increasing from 30.23% in 2012 to 41.77% in 2021. Similar increasing trends were observed for ASD (10.95-15.46%) and depression (10.46-19.37%). Significant sex differences were observed in most disorders: ADHD, ASD, tic disorders, language disorder, conduct disorder, and ODD showed male predominance (P < 0.001), while depressive disorder showed female predominance (P < 0.01). Anxiety disorders showed no significant sex differences. CONCLUSION: This study enhances our understanding of the epidemiology of psychiatric comorbidities in South Korean children and adolescents with ID. The evaluation of comorbid psychiatric disorders in this population is crucial for prognosis, with particular attention needed for ADHD and depressive disorder due to their relatively high prevalence. Future research should focus on preventing and treating psychiatric comorbidities in children and adolescents with ID.
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10. Koetsier J, Bahram Sangani N, Gomes AR, Diogo MM, Fernandes TG, Bouwman FG, Mariman ECM, Ghazvini M, Schurgers LJ, Gribnau J, Curfs LMG, Reutelingsperger CP, Eijssen LMT. Multi-omics characterization of developing forebrain organoids unravels the dynamic molecular events of Rett syndrome pathogenesis. J Neurodev Disord;2026 (Apr 21)
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11. Król ME, Tokarek A, Król MK. Are Lemons Fast for People With Autism? Semantic and Perceptual Crossmodal Correspondences in Autism Beyond the Kiki-Bouba Effect. Autism;2026 (Apr 21):13623613261441750.
Attenuated sound-shape matching in the classic Kiki-Bouba effect in autism has already been replicated in several studies, but it remains unclear whether this attenuation is confined to low-level multisensory integration or whether it reflects a broader reduction in crossmodal priors. In this pre-registered study, we tested 68 intelligence quotient (IQ)-matched participants (31 autistic, 37 typically developing) on four established crossmodal correspondence tasks that span perceptual to conceptual mappings: (1) « Fast lemons » (object-adjective), (2) sound-size pairings with Greebles, (3) kiki-bouba variants, and (4) color-taste matches. A generalized linear mixed-effects model showed a significant main effect of autism, indicating fewer theoretically congruent choices across all tasks. Target consistency increased with age, performance intelligence quotient (PIQ) and with an artificial intelligence (AI)-derived item-difficulty index. Random slopes revealed no task-by-diagnosis interaction, suggesting that diminished correspondence strength in autism generalizes across sensory and semantic domains. These results cautiously point to domain-general accounts, such as predictive-coding « hypo-priors, » over multisensory-specific explanations, and highlight crossmodal correspondences as an intriguing window into information processing in autism.Lay AbstractPeople often make associations between information that comes from different senses – things they see, hear, and feel. For example, one of the classic findings in psychology is that most people think the made-up word « kiki » fits a spiky shape, while « bouba » matches a round one. Previous research has shown that people with autism may be less likely to make these typical associations. However, it’s not clear whether this difference is specific to that one example (sound and shape associations) or part of a wider difference in how people with autism link information from different senses. In this study, we tested 68 teenagers and adults (31 autistic and 37 non-autistic), all with similar intelligence quotient (IQ) levels, on four different tasks that involved matching images with other types of information. These included deciding whether a lemon is more « fast » or « slow », which made-up name fits a creature of a certain size, what taste fits a color, and which name fits a shape. There were no right or wrong answers, but some choices matched what most people typically select. We found that autistic participants across different tasks were less likely than non-autistic participants to choose the most common or expected pairings. These findings suggest that autistic people may form different types of sensory connections, not just in sound-shape tasks but across a broader range of sensory and conceptual experiences. What does this tell us about autistic minds? While more research is needed to know for sure, our findings are consistent with a theory that autistic people may rely less on previous experiences when processing new information. This theory is known as the « hypo-priors » account, which suggests that autistic perception is less shaped by learned expectations and more by the raw details of what’s currently being sensed.
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12. Lee JD, Kang VY, Terol AK, Joo S. Correction: Examining the Efficacy of Culturally Responsive Interventions for Autistic Children and Their Families: A Meta‑Analysis. J Autism Dev Disord;2026 (Apr 20)
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13. Mithani K, Sauter S, Hagopian LP, Breitbart S, Sriharan S, Kisteroff F, Huynh M, Malik S, Thorpe KE, Huber J, Gorodetsky C, Ibrahim GM. Electrical Stimulation of the Nucleus Accumbens for Severe, Refractory Self-Injurious Behaviour in Children (EASE-SIB): protocol for a randomised double-blinded crossover trial. BMJ Open;2026 (Apr 20);16(4):e110222.
INTRODUCTION: Self-injurious behaviour (SIB) consists of persistent, repetitive movements that can result in serious injury without suicidal intent. These behaviours are prevalent among children with neurodevelopmental disorders, including profound autism. Although many individuals benefit from currently available therapies, some exhibit treatment-refractory SIB that necessitates ongoing use of personal protective equipment and restraint, presumably due to stronger neurobiological drivers. We recently completed a phase I, open-label clinical trial demonstrating the safety, feasibility and preliminary efficacy of bilateral deep brain stimulation targeting the nucleus accumbens (NAc-DBS) in children with profound autism and severe, refractory SIB. The objective of the proposed study is to characterise the effectiveness of NAc-DBS in treating severe, refractory SIB in this unique and vulnerable population. METHODS AND ANALYSIS: A single-centre, randomised double-blinded, crossover trial is proposed. Informed by the results of our pilot study, 25 subjects with autism spectrum disorder and severe, refractory SIB will undergo bilateral NAc-DBS. Following a 4-week recovery period, participants will be randomised to either group A (stimulation ON then OFF) or group B (stimulation OFF then ON). Each block will last 12 weeks, separated by a 2-week washout period. Following completion of the second block, all participants will enter a 6-month open-label phase with stimulation ON. The primary outcome is the difference in the Repetitive Behaviour Scale-Revised total score, between DBS-ON and DBS-OFF conditions. Secondary outcomes include measures of quality of life, caregiver burden, daily logs of SIB events and direct observation of SIB under structured analogues. ETHICS AND DISSEMINATION: The proposed trial has been approved by the institutional Research Ethics Board (1000081171). Trial results will be disseminated through peer-reviewed publications and conference presentations. TRIAL REGISTRATION NUMBER: NCT06529380.
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14. Muntané G, Shadrin A, Guardiola-Ripoll M, O’Connell KS, Frei O, Naerland T, Vilella E, Andreassen OA. Genetic overlap and shared risk loci between autism spectrum disorder and cardiometabolic traits. Mol Psychiatry;2026 (Apr 20)
Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting 2% of the global population. Beyond core symptoms such as social communication deficits and repetitive behaviors, individuals with ASD are at increased risk of cardiometabolic comorbidities, including obesity, diabetes, and cardiovascular disease. Here, we investigate the shared genetic architecture between ASD and cardiometabolic traits using large genome-wide association studies datasets and advanced statistical approaches: the bivariate causal mixture (MiXeR) model and pleiotropy-informed conditional false discovery rate (pleioFDR). Our results show significant polygenic overlap between ASD and several cardiometabolic phenotypes, despite almost negligible genetic correlation between the traits. Specifically, we observed positive genetic correlations within the shared component for ASD and metabolic traits, such as body mass index (rg=0.03), type 2 diabetes (rg=0.23), and total cholesterol (rg=0.78). In contrast, negative correlations emerged between ASD and cardiovascular traits, including diastolic and systolic blood pressure (rg = -0,22, for both), pulse pressure (rg = -0.25), and coronary artery disease (rg = -0.90). Finally, we identified 100 shared loci between ASD and cardiometabolic traits, mapping to 124 genes and suggesting shared biological mechanisms underlying these phenotypes and pointing to potential therapeutic targets. Shared loci between ASD and metabolic traits predominantly showed concordant effects, whereas those overlapping with cardiovascular traits-particularly blood pressure-related traits-tended to exhibit discordant effects. Together, these findings deepen our understanding of the biological connections between ASD and cardiometabolic comorbidities and may help inform more personalized strategies for managing ASD and its associated long-term health risks.
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15. Oliveira LM, Aslam MS, Ramirez JM, Huff AD. Mecp2 deficiency induces dysphagia in a preclinical model of Rett syndrome. Proc Natl Acad Sci U S A;2026 (Apr 21);123(16):e2535716123.
Rett syndrome is an x-linked genetic neurological disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. This progressive neurodevelopmental condition hinders patients’ ability to breathe and eat normally. It remains unclear how Mecp2 deficiency leads to the high prevalence of dysphagia and aspiration pneumonia observed in individuals with Rett syndrome. This study aims to determine the effects of Mecp2 deficiency on swallow-related neuromuscular mechanisms that contribute to dysphagia in Rett syndrome. Swallow-related submental complex duration and amplitude were significantly decreased in both Mecp2(-/y) and Mecp2(+/-) mice compared to wild-type, likely due to reduced motor unit activation. In Mecp2-deficient mice, cholinergic immunoreactivity in the hypoglossal, facial, and trigeminal motor nuclei was decreased in postsymptomatic, but not presymptomatic mice. We also observed a significant increase in the transition time from inspiration to swallow, swallow to the subsequent inspiration, and impaired post swallow respiratory rhythm resumption in Mecp2(-/y), but not Mecp2(+/-) mice. The combination of decreased ChAT(+) cells in brainstem motor nuclei and reduced submental muscle complex activity suggest impaired swallow-related hyolaryngeal elevation and laryngeal vestibular closure. These results provide insight into a neuromuscular mechanism underlying dysphagia in Rett syndrome and support the use of Mecp2-deficient mice as a viable preclinical model for further investigation of swallow and upper airway dysfunction in Rett syndrome.
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16. Sardohan Yildirim AE, Altindağ Kumaş Ö, Sümer Dodur HM, Aris M, Delimehmet Dada Ş. Family burden and happiness in mothers of children with intellectual and developmental disabilities: role of support and quality of life. BJPsych Open;2026 (Apr 21);12(3):e113.
BACKGROUND: This study investigates the relationships between family burden, perceived social support, quality of life and happiness among mothers of individuals with intellectual and developmental disabilities (IDDs). AIMS: This study aimed to examine the relationship between family burden and maternal happiness, and to investigate the serial mediating roles of perceived social support and family quality of life in mothers of children with IDDs. METHOD: The study sample comprised 250 mothers of children with IDDs. Data were collected using validated instruments: The Multidimensional Scale of Perceived Social Support, a family burden scale, the Beach Center Family Quality of Life Scale and the Oxford Happiness Questionnaire Short Form. Descriptive statistics, correlation analyses and structural equation modelling were conducted with software SPSS 26.0 and JASP 0.16.4. RESULTS: Perceived social support and family quality of life were positively associated with happiness and negatively associated with caregiving burden; structural equation modelling indicated that their sequential mediation fully explained the link between family burden and happiness. CONCLUSIONS: The findings underscore the critical role of social support and family quality of life in mitigating the negative impact of caregiving burden on maternal happiness.
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17. Wang X, Dong XQ, Tao YW, Du XG, Zhao NX, Song HJ. Acupuncture and Tuina Combined with Educational Rehabilitation for Children with Autism Spectrum Disorder: Study Protocol for a Single-Center, Three-Arm, Pragmatic Randomized Controlled Trial. Neuropsychiatr Dis Treat;2026;22:587139.
BACKGROUND: The prevalence of autism spectrum disorder (ASD) is increasing globally. While educational rehabilitation is the standard of care, Traditional Chinese Medicine (TCM) techniques like acupuncture and tuina are widely used in China as adjunctive therapies, but high-quality evidence from rigorous clinical trials remains limited. The objective of this study is to evaluate the efficacy of acupuncture and tuina, combined with educational rehabilitation, for ASD, and to compare the effects of different TCM intervention methods. METHODS: A single-center, three-arm, pragmatic randomized controlled trial. A total of 120 children aged 2-12 with ASD will be randomized (1:1:1) to: (A) acupuncture + tuina + rehabilitation; (B) acupuncture + rehabilitation; or (C) rehabilitation alone. The intervention duration is 12 weeks with a 4-week follow-up. The primary outcome is the change in the Autism Treatment Evaluation Checklist (ATEC) total score from baseline to week 12. Secondary outcomes include core symptoms (CARS-2, ABC), comorbidities (sleep via CSHQ; constipation via BSFS/SBMs), and neurophysiological measures (EEG). The primary analysis will test the superiority of Groups A and B over Group C, and the non-inferiority of Group B to Group A using a repeated-measures mixed model. CONCLUSION: This trial is designed to generate high-quality evidence regarding the efficacy of TCM techniques as adjunctive therapy for ASD. The findings will inform clinical practice and guide the formulation of integrative intervention strategies for ASD. TRIAL REGISTRATION: This study was registered in the International Traditional Medicine Clinical Trial Registry (ITMCTR) with registration number ITMCTR2025002393.
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18. Weaver B, Chrysikou E, García-Rodríguez M, Palityka D, Hernandez-Garcia E. Healthcare built environment and behavioural and physiological indicators of stress responses in autism spectrum disorder: Protocol for a mixed-methods systematic review. PLoS One;2026;21(4):e0347308.
INTRODUCTION: Autistic populations are more likely to need healthcare (HC) services due to co-occurring mental health issues, including anxiety and attention-deficit hyperactivity disorders. One of the most significant barriers to delivering optimal medical procedures in autism spectrum disorder (ASD) is the sensory overload in HC settings. Divergent sensory processing, along with unpredictable built environments (BEs), can exacerbate stress-induced anxiety and avoidant behaviour. A growing body of systematic studies links autism-friendly BEs with positive care experiences, yet substantial gaps remain in understanding the effects on behavioural and physiological aspects of emotional responses. This systematic review aims to comprehensively evaluate the HC-BE features that impact on behavioural indicators and non-invasive biomarkers of stress, anxiety and sensory processing in patients with ASD, to establish best practices. METHODS AND ANALYSES: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines will be followed. Peer-reviewed articles in PubMed, Embase, Web of Science, Scopus, and PsycINFO databases and Google Scholar will be searched. Studies will be selected if they apply qualitative, quantitative, or mixed-methods designs. Two independent reviewers will select studies at the title and abstract, and full-text screening stages. Data will be extracted by one reviewer and verified by review members using a crowdsourcing approach for quality assurance. Risk of bias will be assessed by one reviewer using the Cochrane Risk of Bias Tools, The Critical Appraisal Skills Programme, and The Mixed Methods Appraisal Tool, and checked by the reviewer with methodological expertise. A results-based convergent synthesis design is planned for data synthesis. DISCUSSION: This review, which converges indicators and patient experiences, will provide a complete overarching picture of the inherent complexities associated with HC-BE and autistic individuals. The findings can inform decisions and recommendations for research and practice. TRIAL REGISTRATION: PROSPERO CRD42024562288.
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19. Yaqi X, Shuai Z, Li J, Haifeng L, Zhiping Z. App-based analysis of multidimensional objective behavioral markers for early risk assessment of autism spectrum disorder. Asian J Psychiatr;2026 (Apr 21);120:104986.
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20. Ziva A, Ziori E, Pothos E. EXPRESS: Implicit global-local learning in young people with and without autism. Q J Exp Psychol (Hove);2026 (Apr 20):17470218261446884.
Implicit (unconscious) learning ostensibly affects cognitive and social skills in both typical and atypical populations, such as those on the autism spectrum. Research into implicit learning in autism has yielded conflicting results, underscoring the need to explore factors that might influence their implicit learning. One such factor is processing style, specifically processing biases for either global (holistic) or local (detail-oriented) processing. In our experiment we investigated the potential role of processing differences in implicit (and explicit) learning performance in individuals with autism (n=20) and typically developing (TD) individuals (n=22), by using a Global-Local version of the Artificial Grammar Learning (AGL) task. Overall AGL performance and explicit knowledge yielded only a trend towards an interaction suggesting a greater global processing advantage in TD participants compared to participants with autism but no conclusive evidence. The above interaction was further observed in terms of implicit knowledge, with TD participants demonstrating higher levels of implicit structural knowledge compared to individuals with autism during global processing. Implicit knowledge between-group differences during local processing remain weak/inconclusive. Overall, our findings suggest interesting potential processing differences in the implicit learning between individuals with and without autism.