Pubmed du 28/01/25

Pubmed du jour

1. Bowden N, Anns F, Vu H, Dacombe J, Muir C, Russell J, van der Meer L, Williams J, Clendon S. School Attendance Among Autistic Students in Aotearoa/New Zealand: A Population Cross-Sectional Study Using the Integrated Data Infrastructure. J Paediatr Child Health. 2025.

BACKGROUND: Extant literature indicates autistic students have lower school attendance compared to the general population. However, there remains considerable heterogeneity between studies, a lack of large population-based studies beyond the UK and US, and insufficient consideration of age and sex differences in attendance rates. The aim of this study was to examine school attendance among autistic compared with non-autistic students including stratification by age and sex. METHODS: This was a national retrospective cohort study using population-level data on students aged 5 to 16 years in 2018. Autism was identified using diagnostic information contained within multiple health datasets. Regular attendance was defined as attending 90% or more of school half days. The association between autism and attendance was estimated using complete-case 2-level random intercept modified Poisson regression. RESULTS: Among 654 438 students, 8427 (1.3%) were autistic. In adjusted analyses, autism was associated with significantly decreased likelihood of regular attendance (incident rate ratio [IRR] 0.88; 95% CI, 0.86-0.90). Age and sex stratification revealed significant age differences with likelihood of regular school attendance lower for younger autistic students (5-11 years) (IRR 0.85; 95% CI, 0.83-0.87) while sex differences were marginal. The most frequent type of non-attendance among autistic students was justified (including medical) absence (8.2% of recorded attendance hours for autistic students vs. 5.0% for non-autistic students). CONCLUSION: This study provides further, whole-population evidence of the significant disparities experienced by Autistic students. To improve attendance of autistic students, comprehensive and targeted supports are required to help the student, family and school.

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2. Cashin A, Pracilio A, Buckley T, Griffin K, Trollor J, Wilson NJ. Australian Registered Nurse’s’ Awareness of Key Issues, Ambivalence and Education Related to the Health of People With Intellectual Disability and/or Autism. J Appl Res Intellect Disabil. 2025; 38(1): e70016.

BACKGROUND: Health outcomes of people with Autism Spectrum Disorder and/or Intellectual Disability are poor. Yet there is a paucity of nurse education and preparation to care for people with Autism Spectrum Disorder and Intellectual Disability. METHOD: A cross sectional survey of Australian Registered Nurses related to their educational experience, awareness of the national disability support scheme and the concept of making reasonable adjustments. RESULTS: The majority of Australian Registered Nurses did not experience undergraduate content related to caring for people with Autism Spectrum Disorder and/or Intellectual Disability. Few participants experienced a dedicated clinical placement. Just over one half of the participants were aware of reasonable adjustments. Continuing professional education was significantly related to a greater awareness of reasonable adjustments and less ambivalence. CONCLUSION: Education plays a key role in promoting awareness and reducing ambivalence. Education focussed on understanding the diversity in the particular types of neurodiversity is particularly efficacious.

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3. Cools L, Derveaux E, Adriaensens P, Van den Mooter G. Molecular miscibility of ASD blend components: an evaluation of (the added value of) solid state NMR spectroscopy and relaxometry. J Pharm Sci. 2025.

In order to evaluate the stability of an amorphous solid dispersion (ASD) it is crucial to be able to accurately determine whether the ASD components are homogeneously mixed or not. Several solid-state analysis techniques are at the disposal of the formulation scientist, such as for example modulated differential scanning calorimetry (mDSC) and solid-state nuclear magnetic resonance spectroscopy (ssNMR). ssNMR is a robust, versatile, and accurate analysis technique with a large number of application possibilities. Especially ssNMR relaxometry, which allows the measurement of the proton relaxation times T(1H) and T(1ρH), is very useful for evaluating the miscibility of ASDs. In this paper, the miscibility of a model ASD, composed of indomethacin (IND) and poly(vinylpyrrolidone-co-vinyl acetate) (PVPVA), was assessed using mDSC and various ssNMR techniques, in order to compare the different techniques and to evaluate the advantages and disadvantages of each. It was found that measuring the relaxation times via the chemical shift selective carbon signals using (13)C-cross-polarization magic angle spinning ((13)C-CPMAS) is still the golden standard to evaluate miscibility, even giving information about the miscibility at the nm scale. Although non-chemical shift selective (1)H-wideline measurements are significantly faster than (13)C-CPMAS measurements to determine the relaxation times, the results are often hard to interpret, especially with regard to the T(1ρH) relaxation times. 2D (1)H-(13)C dipolar heteronuclear correlation (dipolar HETCOR) NMR is an additional technique that can be used, and which provides information about the special proximity of (1)H and (13)C nuclei with respect to each other and therefore about the miscibility of the components at the nm scale. Additionally, it often allows to acquire information regarding the intermolecular interactions and the functional groups involved. Nevertheless, optimalization of the experiments, data processing and interpretation of the results require some expertise. Compared to mDSC, the ssNMR techniques are more sensitive and robust and can often provide information about the miscibility at nm scale. However, mDSC is a very fast analysis technique that requires less optimalization. Therefore, it remains recommended to use mDSC always for a first screening and as a complementary analysis technique.

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4. Corney RC, Nevill RE, Mazurek MO. A Preliminary Evaluation of the Feasibility and Efficacy of Mantra-Like Phrase Recitation in Improving Mental Health in Autistic Adults. Adv Neurodev Disord. 2024; 8(4): 547-58.

OBJECTIVES: Mantra recitation has been shown to improve emotional well-being in neurotypical individuals with mental health conditions; however, no research has explored its effect on the autistic population. The private, routine nature of mantra and mantra-like recitation may offer unique advantages for autistic individuals struggling with negative emotions and emotion regulation. The purpose of this study was therefore to conduct a preliminary study of the feasibility and efficacy of a self-guided, online program of reciting secular mantra-like phrases in improving negative emotions and cognitive coping mechanisms. METHODS: This study used a pre-post, quasi-experimental design. Participants (n = 12) recited a mantra-like phrase for 30 min a day over 6 weeks. Each participant chose a secular mantra-like phrase from a predetermined list to practice exclusively throughout the session. Participants also completed two surveys each week to track their progress and practice times. RESULTS: Participants overall reported high feasibility, specifically acceptability and practicality of the program, and high satisfaction with study participation. At the conclusion of the program, participants reported significant decreases in negative emotions, specifically anxiety, stress, depression, and rumination, and significant increases in emotion regulation. CONCLUSIONS: These findings offer promise regarding the feasibility and efficacy of secular mantra-like recitation for promoting emotional wellbeing in autistic adults, based on its improvement of symptoms and use of a low-cost strategy that can be performed across settings. Self-guided programs may offer additional benefits to autistic adults given that they can be completed independently and privately within the privacy of their homes.

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5. Cui LB, Wang XY, Wang HN. Utilizing typical developmental trajectories to reflect brain abnormalities in autism spectrum disorder. Psychoradiology. 2024; 4: kkae024.

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6. de Kadt J, Jeyam A, Muuo SW, Okello G, Jolley E, Schmidt E. Developmental Scores and Prevalence of Functional Difficulty Among Preschool Children in Kenya. Child Care Health Dev. 2025; 51(2): e70037.

BACKGROUND: Disability-inclusive early childhood development and education (ECDE) plays a crucial role in ensuring that all children, including those with disabilities, reach their developmental potential. However, there is little data on the prevalence of disability in mainstream ECDE in most low- and middle-income countries (LMICs), or on early learning and developmental outcomes of children with disabilities in these classrooms. METHODS: Data were collected on 1756 children aged 3-9 years enrolling in ECDE at 18 schools in Homa Bay or Turkana Counties, Kenya, at the start of the 2021 and 2022 school years. The UNICEF/Washington Group Child Functioning Module (CFM) measured the prevalence of functional difficulty, and the International Development Early Learning Assessment (IDELA) measured child development and learning. RESULTS: Mainstream classes in sampled preschools included significant proportions of children with functional difficulties (19.9% in Homa Bay; 8.8% in Turkana). In both sites, the odds of having at least one functional difficulty were significantly higher among those aged 5 and above (OR = 2.82 for Homa Bay; 5.76 for Turkana). Multivariate regression found no relationship between functional difficulty and sex or household income. Among children aged 2-4 years in Homa Bay, functional difficulty was most often reported in the domain of controlling behaviour (4.4%), whereas in Turkana, mobility (1.4%) was most common. For children aged 5 and above in Homa Bay, difficulty with accepting change (11%) was most frequently reported, whereas in Turkana it was anxiety (6%). Median IDELA scores were 49 in Homa Bay and 31 in Turkana. Scores increased with child age. Regression models accounting for age- and school-level clustering found no statistically significant differences by sex. Functional difficulties were associated with lower median IDELA scores in Turkana only (β = -5.44 [-8.86, -2.02]). CONCLUSION: Findings highlight the importance of appropriate, sustainable support for inclusive ECDE in both settled communities and refugee settings.

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7. Durbin A, Balogh R, Lin E, Palma L, Plumptre L, Lunsky Y. Community and Hospital Healthcare Use by Adults With and Without Intellectual and Developmental Disabilities in Ontario, Canada, During the First 2 Years of the COVID-19 Pandemic. J Intellect Disabil Res. 2025.

BACKGROUND: This study describes the proportion of Ontario adults with and without intellectual and developmental disabilities (IDD) who used community- and hospital-based healthcare in the first 2 years of the pandemic compared with the year pre-COVID-19. METHODS: Linked health administrative databases identified 87 341 adults with IDD and also adults without IDD living in Ontario, Canada. For each cohort, counts and proportions of adults who used different types of healthcare services were reported for the pre-COVID-19 year (16 March 2019 to 14 March 2020) and the first two COVID-19 years (15 March 2020 to 14 March 2021 and 15 March 2021 to 14 March 2022). RESULTS: Compared with the year prior to COVID-19, the proportion of adults with and without IDD who used health services was lower during the first COVID-19 year, but the likelihood of all types of visits increased during the second year. The likelihood of using homecare and of being hospitalized nearly returned to pre-pandemic levels. Virtual physician visits increased in each COVID-19 year from 5.2% prior to the pandemic to 13.0% in year 1 and 58.7% in year 2. For all years, the proportion of adults who used each service type was higher for those with IDD than without IDD. CONCLUSIONS: For adults with and without IDD in Ontario, Canada, during the first two COVID-19 years healthcare use decreased for all service types, except for virtual physician visits. In the second year, healthcare use increased but did not reach pre-COVID-19 levels. In all years, adults with IDD were more likely to use services than other adults.

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8. Karim A, Alromema N, Malebary SJ, Binzagr F, Ahmed A, Khan YD. eNSMBL-PASD: Spearheading early autism spectrum disorder detection through advanced genomic computational frameworks utilizing ensemble learning models. Digit Health. 2025; 11: 20552076241313407.

OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition influenced by various genetic and environmental factors. Currently, there is no definitive clinical test, such as a blood analysis or brain scan, for early diagnosis. The objective of this study is to develop a computational model that predicts ASD driver genes in the early stages using genomic data, aiming to enhance early diagnosis and intervention. METHODS: This study utilized a benchmark genomic dataset, which was processed using feature extraction techniques to identify relevant genetic patterns. Several ensemble classification methods, including Extreme Gradient Boosting, Random Forest, Light Gradient Boosting Machine, ExtraTrees, and a stacked ensemble of classifiers, were applied to assess the predictive power of the genomic features. TheEnsemble Model Predictor for Autism Spectrum Disorder (eNSMBL-PASD) model was rigorously validated using multiple performance metrics such as accuracy, sensitivity, specificity, and Mathew’s correlation coefficient. RESULTS: The proposed model demonstrated superior performance across various validation techniques. The self-consistency test achieved 100% accuracy, while the independent set and cross-validation tests yielded 91% and 87% accuracy, respectively. These results highlight the model’s robustness and reliability in predicting ASD-related genes. CONCLUSION: The eNSMBL-PASD model provides a promising tool for the early detection of ASD by identifying genetic markers associated with the disorder. In the future, this model has the potential to assist healthcare professionals, particularly doctors and psychologists, in diagnosing and formulating treatment plans for ASD at its earliest stages.

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9. Klinner C, Young A, Strnadová I, O’Neill J, Newman CE, Wong H, Davies C, Vujovich-Dunn C, Skinner SR, Brogan D, Kang M, Danchin M, Guy R, Carter A. Vaccinating Adolescents With Intellectual and Developmental Disability at School: An Opportunity to Promote Supported Decision Making. J Sch Nurs. 2025: 10598405241312981.

Internationally, vaccination rates among adolescents with intellectual and developmental disability (IDD) are lower than those of the general population. Little research has addressed this issue. This study investigates the experiences of vaccinating adolescents with IDD in special education settings in Australia, with a focus on student engagement. Semistructured interviews and focus groups were undertaken with 50 stakeholders involved in the school vaccination program. Data was analyzed thematically using a framework approach. We identified five themes: lack of student engagement, practices discouraging engagement, practices fostering engagement, lack of vaccination protocol adjustments, and lack of disability-specific nurse training. Nurses’ limited knowledge and skills in engaging students with IDD can result in unethical practices, students feeling excluded from vaccination decisions, and students being traumatized by negative treatment experiences. Clinical protocols lack guidance and reasonable adjustments to provide inclusive vaccination services. Supported decision making could provide more inclusive school vaccinations, more positive vaccination experiences, and higher vaccination rates among adolescents with IDD.

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10. Mangum L, Copeland VC, Orebiyi I, Taylor S, Jones T, Nathan J, Nathan BR, Eack SM. Parental Perceptions of Access to and Utilization of Services for Autistic Children in African American Families: An Exploratory Study. J Racial Ethn Health Disparities. 2025.

Autism spectrum disorder (ASD) occurs within all racial, ethnic, and demographic pediatric groups. However, Black children with ASD are diagnosed at later stages of their development, and as a result may not receive or may age out of early intervention services, and demonstrate poorer long-term outcomes, across a range of factors. African American parent’s perceptions regarding access to and utilization of healthcare services for their autistic children vary. Research examining autism spectrum disorder and parental perceptions of service utilization among African American (AA) families is limited. This qualitative study aimed to understand the challenges African American parents face when initiating healthcare services for their autistic children. Eleven AA mothers of autistic children participated in individual semi-structured interviews. Six themes related to pediatric treatment needs, interactions with providers, and parents’ roles as experts and advocates were generated. Implications for pediatric treatment needs of autistic children and areas of opportunity for providers working with AA autistic children are discussed.

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11. Osama A, Anwar AM, Ezzeldin S, Ahmed EA, Mahgoub S, Ibrahim O, Ibrahim SA, Abdelhamid IA, Bakry U, Diab AA, A AS, Magdeldin S. Integrative multi-omics analysis of autism spectrum disorder reveals unique microbial macromolecules interactions. J Adv Res. 2025.

INTRODUCTION: Gut microbiota alterations have been implicated in Autism Spectrum Disorder (ASD), yet the mechanisms linking these changes to ASD pathophysiology remain unclear. OBJECTIVES: This study utilized a multi-omics approach to uncover mechanisms linking gut microbiota to ASD by examining microbial diversity, bacterial metaproteins, associated metabolic pathways and host proteome. METHODS: The gut microbiota of 30 children with severe ASD and 30 healthy controls was analyzed. Microbial diversity was assessed using 16S rRNA V3 and V4 sequencing. A novel metaproteomics pipeline identified bacterial proteins, while untargeted metabolomics explored altered metabolic pathways. Finally, multi-omics integration was employed to connect macromolecular changes to neurodevelopmental deficits. RESULTS: Children with ASD exhibited significant alterations in gut microbiota, including lower diversity and richness compared to controls. Tyzzerella was uniquely associated with the ASD group. Microbial network analysis revealed rewiring and reduced stability in ASD. Major metaproteins identified were produced by Bifidobacterium and Klebsiella (e.g., xylose isomerase and NADH peroxidase). Metabolomics profiling identified neurotransmitters (e.g., glutamate, DOPAC), lipids, and amino acids capable of crossing the blood-brain barrier, potentially contributing to neurodevelopmental and immune dysregulation. Host proteome analysis revealed altered proteins, including kallikrein (KLK1) and transthyretin (TTR), involved in neuroinflammation and immune regulation. Finally, multi-omics integration supported single-omics findings and reinforced the hypothesis that gut microbiota and their macromolecular products may contribute to ASD-associated symptoms. CONCLUSIONS: The integration of multi-omics data provided critical evidence that alteration in gut microbiota and associated macromolecule production may play a role in ASD-related symptoms and co-morbidities. Key bacterial metaproteins and metabolites were identified as potential contributors to neurological and immune dysregulation in ASD, underscoring possible novel targets for therapeutic intervention.

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12. P V, A P. Virtual Reality-Based Attention Prediction Model in Gaming for Autistic Children. Int J Dev Neurosci. 2025; 85(1): e70000.

Nowadays, virtual reality (VR) has emerged as a successful new therapeutic strategy in a variety of sectors of the health profession, including rehabilitation, the promotion of inpatients’ emotional wellness, diagnostics, surgeon training and mental health therapy. This study develops a new model VRAPMG for children with ASD with the following steps that consider 3D gaming. In this work, the face image is considered to evaluate the attention of the children. In the data acquisition, the input face image is converted into a noncoloured image called a greyscale image. The preprocessing phase is carried out with a median filter and Viola-Jones (VJ) algorithm-based face detection is carried out. Then, the improved active shape model (ASM), shape local binary texture (SLBT) and eye position localization-based features are extracted. In the detection phase, DMO and Bi-GRU models are combined to form the hybrid classification model. Then, improved SLF is done, and the output is detected. Depending on the detected emotions, it is determined whether the children are attentive or not via entropy-based attention prediction.

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13. Santra R, Pacheco C, Crocetti D, Vidal R, Mostofsky SH, Tunçgenç B. Evaluating Computerised Assessment of Motor Imitation (CAMI) for identifying autism-specific difficulties not observed for attention-deficit hyperactivity disorder or neurotypical development. Br J Psychiatry. 2025: 1-8.

BACKGROUND: Reliable and specific biomarkers that can distinguish autism spectrum disorders (ASDs) from commonly co-occurring attention-deficit/hyperactivity disorder (ADHD) are lacking, causing misses and delays in diagnosis, and reducing access to interventions and quality of life. AIMS: To examine whether an innovative, brief (1-min), videogame method called Computerised Assessment of Motor Imitation (CAMI), can identify ASD-specific imitation differences compared with neurotypical children and children with ADHD. METHOD: This cross-sectional study used CAMI alongside standardised parent-report (Social Responsiveness Scale, Second Edition) and observational measures of autism (Autism Diagnostic Observation Schedule-Second Edition; ADOS-2), ADHD (Conners) and motor ability (Physical and Neurological Examination for Soft Signs). The sample comprised 183 children aged 7-13 years, with ADHD (without ASD), with ASD (with and without ADHD) and who were neurotypical. RESULTS: Regardless of co-occurring ADHD, children with ASD showed poorer CAMI performance than neurotypical children (P < 0.0001; adjusted R(2) = 0.28), whereas children with ADHD and neurotypical children showed similar CAMI performance. Receiver operating curve and support vector machine analyses showed that CAMI distinguishes ASD from both neurotypical children (80% true positive rate) and children with ADHD (70% true positive rate), with a high success rate significantly above chance. Among children with ASD, poor CAMI performance was associated with increased autism traits, particularly ADOS-2 measures of social affect and restricted and repetitive behaviours (adjusted R(2) = 0.23), but not with ADHD traits or motor ability. CONCLUSIONS: Four levels of analyses confirm that poor imitation measured by the low-cost and scalable CAMI method specifically distinguishes ASD not only from neurotypical development, but also from commonly co-occurring ADHD.

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14. Sheaffer A, Skubik-Peplaski C, O’Brien SP. Equitable Access to Sports: Youth Gymnastics Coaches’ Perceptions on Promoting Inclusivity for Athletes with Autism Spectrum Disorder. Phys Occup Ther Pediatr. 2025: 1-15.

AIMS: The purpose of the study was to explore youth gymnastics coaches’ perceptions on inclusive sports participation following an educational module. The study aims to explore implications for occupational therapy professionals’ role in inclusive sports. METHODS: A qualitative descriptive approach was utilized with convenience sampling occurring through online platforms. Nine participants completed an educational module on autism spectrum disorder including strategies to promote inclusion in sports and address sensory and motor issues, prior to completing a semi-structured interview. Interviews were transcribed and coded prior to the determination of themes with triangulation and member checking employed. RESULTS: Thematic analysis resulted in the following themes: (1) occupational engagement in sports benefits both neurodiverse and neurotypical children; (2) sociocultural and physical environments create barriers to autistic youth’s participation in sports; and (3) grace and knowledge enhance coaches’ ability to promote inclusive occupational participation in sports for autistic youth. Themes were representative of the interconnected occupational components impacting inclusive sports of which occupational therapists are poised to address. CONCLUSION: Lack of participation in sports for all children and children with disabilities is a complex system of physical, social, psychological, cultural, and environmental elements. Occupational therapists are equipped to educate youth sports providers and demonstrate leadership in advocating for inclusive sports programs to facilitate equitable sports participation, health, and wellness for children.

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15. Sun W, Yan H, Sun M, Wang J, Li K. Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review. BMC Pediatr. 2025; 25(1): 70.

BACKGROUND: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.3 microduplication and novel clinical findings, specifically nephrotic syndrome. CASE PRESENTATIONS: A 4-year-old girl was admitted to our hospital in December 2020 with a fever and cough that had persisted for 3 days. A series of treatments, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed. Relevant literature was reviewed using the search terms « 19p13.3 » and « 19p13.3 microduplication syndrome » in the China Knowledge Network, Wanfang Database, Weipu Journal Service Platform, and PubMed (date range: database establishment to September 2023). In addition to common symptoms, such as developmental delay, microcephaly, distinctive facial features, and congenital heart defects, the patient also had nephrotic syndrome, a previously unreported phenomenon. CMA results showed a 3.6 Mb fragment duplication (copy number: 3) in the chr19p13.3 region, containing 127 protein-coding genes (including CELF5, NFIC, SMIM24, PIAS4, ATCAY, MAP2K2, and ZBTB7A). WES revealed a filamin C mutation (p.Glu309Valfs × 11). The mutation status of the patient and her father was heterozygous, whereas the mutation was not detected in the mother. CONCLUSION: Microduplication in the 19p13.3 region could be one of the genetic factors contributing to the observed clinical phenotypes. However, patients with developmental delay, microcephaly, distinctive facial features, congenital heart defects, and urogenital system disorders may exhibit these manifestations due to various genetic syndromes; therefore, simply considering the possibility of 19p13.3 microduplication syndrome based on these non-specific features is not sufficient. Further comprehensive evaluations, including CMA, should be conducted in conjunction with other genetic tests and detailed clinical examinations to accurately determine the underlying genetic causes.

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16. van den Heuvel RM, Teunisse JP, Radhoe TA, van der Putten WJ, Torenvliet C, Wen S, Wensing M, Geurts HM. Social Network Types in Autistic Adults and Its Associations with Mastery, Quality of Life, and Autism Characteristics. J Autism Dev Disord. 2025.

Research shows heterogeneity in experiences of social contact and social networks in autistic adults. In this study, we aim to identify clusters of social support networks and investigate associations of clusters with mastery, quality of life, and autism characteristics. Autistic adults (N = 381; 45.7% female) aged between 30 and 90 years completed questionnaires on social support characteristics, mastery, autism characteristics, and quality of life. A two-step cluster analysis was used to identify clusters based on social support network items. The cluster analysis revealed three clusters: Cluster 1 (n = 238) with two or more close persons, sometimes including a romantic partner; Cluster 2 (n = 102) with solely a romantic partner as close person; and Cluster 3 (n = 41) without any close persons. Level of emotional support was the most important clustering indicator. People in Cluster 3 reported lower quality of life regarding social relationships and mastery, autism characteristics, and other quality of life scales were similar across clusters. Absence or presence of close persons significantly impacts quality of life regarding social relationships in autistic adults, which highlights the importance of addressing (satisfaction with) social support. In order to enhance quality of life, offering social network interventions to increase social support seems especially relevant for autistic people belonging to Cluster 3.

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