1. Alkhaibari S, Dong F. Machine Learning for Autism Spectrum Disorder Prediction: A Review of Data Augmentation and Feature Selection Techniques. Health Care Sci. 2026.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent difficulties in social communication, social interaction, and repetitive behaviors. Early and accurate diagnosis is essential but is often hindered by subjective clinical assessments, limited data availability, and inconsistencies in existing diagnostic tools. This review evaluates the role of machine learning and deep learning approaches in improving ASD prediction, with a particular focus on two important yet relatively underexplored methodological components: data augmentation and feature selection. A structured literature search was conducted across major scientific databases, including IEEE Xplore, PubMed, Scopus, and Google Scholar, to identify studies published between 2021 and 2024. The methodological quality and risk of bias of the included studies were assessed using the Prediction Model Risk of Bias Assessment Tool. A total of 26 peer-reviewed studies were included based on their relevance to machine learning/deep learning-based ASD prediction and their explicit application of data augmentation or feature selection techniques. Data augmentation methods were categorized into conventional approaches, such as geometric and color-space transformations, and advanced techniques, including generative adversarial network-based synthetic data generation. Although augmentation techniques may improve model robustness and help address dataset scarcity, relatively few studies conducted ablation analyses to isolate the contribution of individual augmentation strategies. Feature selection approaches were classified into filter, wrapper, and embedded methods. Commonly used techniques included information gain, chi-square tests, recursive feature elimination, and elastic net regularization. While these methods may improve predictive performance and model interpretability, they are frequently applied without sufficient empirical justification or biological interpretation. Overall, this review highlights important methodological limitations, including limited external validation, insufficient ablation analyses, and inadequate evaluation frameworks, which reduce confidence in reported performance improvements and model generalizability. Future research should emphasize methodological transparency, robust validation strategies, multimodal data integration, and clinically interpretable modeling approaches to improve the reliability and clinical applicability of ASD prediction systems.

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2. Bonner-Reid FT. Gastrointestinal Microbiota Imbalance and Sensory Processing Dysregulation in Autism Spectrum Disorder: A Systematic Review. Cureus. 2026; 18(8): e114142.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by challenges with social communication and repetitive behaviors. Many people with ASD also experience gastrointestinal symptoms and sensory processing dysfunction. New research has identified a potential role for microbial dysbiosis (imbalance of gut microbiota) in these comorbidities. This systematic review aimed to explore the links between gut microbiota composition, gastrointestinal symptoms, sensory processing differences, and dietary patterns in individuals with ASD, as well as the potential for a bidirectional relationship and dietary-based interventions targeting the microbiota. PubMed, Scopus, Web of Science, and Google Scholar were used to retrieve publications from 2011 to 2026, and a systematic review was conducted. Studies were chosen that examined gut microbiota, gastrointestinal symptoms, and sensory processing in people with ASD. Only intervention and observational studies were included. Many people with ASD reported gastrointestinal symptoms, sensory processing differences, restricted dietary patterns, and gut microbiota composition. However, the majority of studies included were cross-sectional, which does not allow for an inference of temporal direction or causality. The evidence indicates there may be a bidirectional relationship between gastrointestinal and sensory symptoms and microbial differences, and the sensory symptoms, food selectivity, food restriction, stool consistency, use of medication, and clinical characteristics may also affect the composition of the microbiota. Initial microbiome interventions had some potential for improvement in selected outcomes, but with limited confidence due to small sample sizes, heterogeneity in methods used, and potential for bias. The current evidence suggests that changes in the gut microbiota composition are associated with gastrointestinal symptoms, sensory dysregulation, and dietary patterns in ASD, but does not provide evidence to indicate that microbial dysbiosis is a primary mechanism. The possibility of reverse causation exists, as the food environment could be influenced by sensory sensitivity and/or eating habits, and, in turn, these factors could affect the composition of the microbiota. To better understand directionality and the efficacy of microbiome-targeted interventions, longitudinal studies and sufficiently powered randomized controlled trials are warranted.

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3. Çağıran İ H, Yilmaz DA. Prenatal valproic acid exposure in rodent models of autism: a systematic review of neurobehavioral physiological alterations. Front Physiol. 2026; 17: 1860596.

INTRODUCTION: Rodent models based on prenatal valproic acid (VPA) exposure are widely used to investigate autism spectrum disorder (ASD)-related neurobehavioral and biological alterations. Over the past two years, the rapid expansion of VPA-based research incorporating advanced molecular, neuroimaging, electrophysiological, and microbiota analyses has generated a substantial but fragmented body of evidence. METHODS: This systematic review aimed to synthesize findings from rodent studies published between January 2024 and November 2025 that employed prenatal VPA exposure, with particular emphasis on behavioral, neurobiological, inflammatory, microbiota-gut-brain axis, gene-expression, and histopathological outcomes. A structured search was conducted in PubMed, Scopus, Web of Science Core Collection, Embase, and PsycINFO, supplemented by manual screening in Google Scholar. Controlled vocabulary and free-text terms related to ASD, VPA, and rodent models were combined. Original in vivo studies administering VPA during gestation and reporting behavioral and/or biological outcomes were included. Because of substantial heterogeneity in VPA dose, administration route, gestational timing, species, strain, sex, and outcome domains, findings were synthesized narratively. Risk of bias was assessed using the SYRCLE risk-of-bias tool, and reporting completeness was evaluated using the ARRIVE 2.0 guidelines. RESULTS: Sixty-six eligible prenatal VPA studies were included. Most administered a single intraperitoneal dose of 500 or 600 mg/kg around embryonic day 12-12.5. Across studies, prenatal VPA exposure was consistently associated with ASD-like phenotypes, including reduced sociability, impaired social novelty preference, repetitive behaviors, anxiety-like traits, and cognitive deficits. Frequently reported biological alterations included oxidative stress, neuroinflammation involving NF-κB and NLRP3 signaling, neurotransmitter dysregulation, impaired synaptic plasticity, microbiota-related changes, and region-specific brain abnormalities. DISCUSSION: Recent prenatal VPA studies therefore extend beyond classical behavioral characterization by integrating neuroimmune, oxidative, microbiota-related, transcriptomic, electrophysiological, and histopathological findings. However, substantial methodological heterogeneity and incomplete reporting of randomization, blinding, animal-flow, and litter-level procedures limit cross-study comparability, reproducibility, and translational interpretation.

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4. Campos GDS, Costa CIS, Wang JYT, Ferraz AL, Filippo AL, Toledo VHC, Silva MCF, Passos CH, Meyer D, Errera FIV, Brentani HP, Passos-Bueno MR. Genomic landscape of autism spectrum disorder in Brazil. Genet Mol Biol. 2026; 49Suppl 1(Suppl 1): e20250247.

Genomic studies of autism spectrum disorder (ASD) have largely excluded admixed populations. To address this gap, we characterized the genomic landscape of ASD in Brazil by combining a systematic literature review with whole-exome sequencing analysis of 441 Brazilian individuals and their families. Our analysis revealed a conclusive molecular diagnosis in 13.1% of probands. The diagnostic yield was higher among individuals with clinical features, particularly comorbid signs of intellectual disability, hypotonia, and seizures, providing a basis for prioritizing genetic testing. The sample presented a diverse ancestry, with major European, African, and Native American contributions. Notably, more than half of the identified rare risk variants were located on non-European haplotypes. Both de novo and inherited variants contributed to ASD risk, and we reinforce NPAS3 as a candidate ASD risk gene. This study provides the first comprehensive genomic overview of ASD in a large Brazilian cohort, reinforcing the critical need to include diversely admixed populations in genomic research to expand the understanding of ASD architecture and improve diagnostic strategies in resource-limited settings.

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5. Chen X, Dumbuya JS, Qi J. Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient. Front Genet. 2026; 17: 1925563.

Coffin-Siris syndrome type 4 (CSS4; OMIM 614609) is a rare autosomal dominant disorder caused by variants in SMARCA4, encoding the BRG1 ATPase subunit of the BAF chromatin-remodeling complex. Although classically characterized by intellectual disability, distinctive facial features, and fifth digit hypoplasia, the phenotypic spectrum is broad and includes autism spectrum disorder (ASD) without typical somatic features. We report a 3-year-old Chinese girl with global developmental delay, ASD features, characteristic facial features, and a documented normal ophthalmologic examination in whom whole-exome sequencing identified a novel heterozygous de novo frameshift duplication, c.4767dup (p.Ser1590Ilefs*39), in SMARCA4 (NM_003072), classified as Pathogenic (PVS1+PM2_Supporting + PM6). Notably, she lacked fifth digit hypoplasia and had no structural ocular anomalies on detailed ophthalmologic evaluation. A systematic review of the literature identified 39 genetically confirmed SMARCA4-related CSS4 cases; combined with our patient, 40 cases were analyzed. Intellectual disability was universal (100%), ASD manifestations occurred in 42.5%, and fifth digit hypoplasia was present in only 55.0%. Truncating variants (37.5% of the cohort) showed descriptive trends toward higher prevalence of fifth digit hypoplasia and ocular abnormalities than missense variants, though these differences did not reach statistical significance. Our proband, despite carrying a truncating variant, presented without classic digital anomalies or ocular involvement, underscoring that even loss-of-function alleles can produce atypical CSS4 phenotypes. For children with developmental delay, ASD, and distinctive facial features-regardless of the presence of classic digital anomalies-genetic testing for SWI/SNF complex genes should be considered. Given current limited evidence, carriers of truncating variants should be counseled regarding potential tumor predisposition, and individualized surveillance strategies may be considered pending further data.

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6. Conesa-Molina M, Grau MD, Pablos A, Elvira L. Parental Perspectives on Sports Participation in Boys with Autism Spectrum Disorder Level 1 Following a Multicomponent Physical Activity Program: A Qualitative Study. Children (Basel). 2026; 13(9).

Background: Children with Autism Spectrum Disorder (ASD) Level 1 face barriers to sports participation that remain insufficiently understood. Methods: This qualitative study explored parental perspectives on barriers and facilitators to physical activity following participation in a multicomponent physical activity program (MCPAP). Semi-structured interviews were conducted with 17 parents (11 mothers, 6 fathers) of boys aged 8-12 years with ASD Level 1 who completed a 12-week MCPAP in Valencia, Spain. Data were analyzed using reflexive thematic analysis. Results: Seven themes were identified, capturing both barriers and facilitators: (1) parental fears and previous negative experiences; (2) parents’ accounts of their sons’ avoidance of physical activity in relation to bullying and social exclusion; (3) methodological barriers linked to non-adapted teaching approaches; (4) challenges with non-specialized professionals; (5) limited availability of programs specifically designed for children with ASD Level 1; and (6) location and accessibility concerns; and (7) parent-perceived facilitators and outcomes associated with the MCPAP, including transfer to natural contexts. Conclusions: Parents described children with ASD Level 1 as an « invisible population » with regard to existing sports opportunities. Parents further perceived that specialized programs with trained professionals, adapted methodologies, and small-group formats supported their sons’ sustained engagement in physical activity. These findings reflect parental interpretations and were not triangulated with standardized outcome measures.

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7. Day M, Wood C, Corker E, Pearson N, Scargill K, Freeth M. A Pilot Evaluation of a Web-Based Intervention Aiming to Improve Employer Confidence in Hiring Autistic People. Autism. 2026: 13623613261480736.

Autistic people are underrepresented in the workforce. Reasons for this include insufficient employer knowledge about autism and poor suitability of employment environments and practices. This pre-registered single-arm pre-post pilot trial aimed to assess the acceptability and usability of a set of co-developed web-based resources aimed at employers, the Autism Work Access Resource for Employers (AWARE) toolkit. We designed the resources to improve employer confidence and knowledge in relation to employing Autistic people and to give them a set of practical materials to enhance the inclusivity of their hiring processes. We asked 20 employers who were currently responsible for managing recruitment activities/processes in their organisations to engage with the AWARE toolkit for 1-hr over a 2-week period. Results indicated that employers found the toolkit to be highly acceptable, and rated usability as ‘excellent’. Preliminary indicators of efficacy showed that employers experienced less worry about hiring Autistic people and gained greater knowledge of workplace adjustments by using the toolkit. This study demonstrates the promise of quick-reference resources as part of the solution towards improving access to high-quality employment opportunities for Autistic people.Lay AbstractAutistic people are often underrepresented in employment. In the United Kingdom, only around 3 in 10 Autistic people are currently employed. Barriers to employment include a lack of knowledge among employers about autism, and a lack of understanding about workplace adjustments. Traditional hiring practices, such as job interviews, can also be less accessible for Autistic people. To address these barriers to employment for Autistic people, the researchers have developed a web-based intervention called the AWARE (Autism Work Access Resource for Employers) toolkit. These resources were designed to improve employer knowledge about autism and reasonable adjustments, and to provide resources which can be used in the workplace. The resources include information, links to resources and guidance, checklists and templates which can be downloaded, and videos of employers and Autistic employees talking about their employment experiences. This pilot trial recorded data from 20 employers who were responsible for hiring processes in their organisation. These employers interacted with the web resources and then provided feedback. This showed that it was practical to use the toolkit, that employers liked the resources and that employers reported higher knowledge and lower worry after using the resources. The study shows that providing quick, practical and easy-to-use resources could be an effective way of improving employment opportunities for Autistic people by improving employer knowledge and confidence to provide more inclusive working environments.

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8. Durmaz GN, Kahrama NN, Coşkun M. Severe self-injury in a young girl with autism spectrum disorder and Helsmoortel-van der Aa syndrome responding to naltrexone. Psychiatr Genet. 2026.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition frequently complicated by severe self-injurious behavior (SIB), which may be particularly challenging in children with rare genetic syndromes such as Helsmoortel-van der Aa syndrome. We describe a 10-year-old nonverbal girl with ASD and Helsmoortel-van der Aa syndrome who presented with chronic, severe SIB resulting in ocular rupture. Previous trials with multiple antipsychotics and benzodiazepines provided limited benefit. Following the introduction of naltrexone, the frequency and severity of SIB declined by more than 50% within 4 weeks, accompanied by improvements in irritability and sleep and no reported adverse effects. Clinical ratings supported this response, with Clinical Global Impression-Severity decreasing from 7 to 4 and Clinical Global Impression-Improvement rated as 2. This case suggests that naltrexone may be a useful adjunctive option for treatment-resistant SIB and warrants further systematic investigation.

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9. Jędrzejowska M, Gos M, Rokicki D, Jurkiewicz E, Madej-Pilarczyk A. Floppy baby syndrome as the first presentation of HADDTS associated with CTBP1 mutation. Folia Neuropathol. 2026; 64(2): 205-8.

The CtBP1 protein is a transcriptional regulator that interacts with chromatin-modifying enzymes and modulates gene expression in various cellular pathways. The dominant negative de novo molecular variant c.1024C>T, p.Arg342Trp in the CTBP1 gene is associated with hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS). Here we present a male patient with a recurrent hotspot mutation in the CTBP1 gene and a phenotype consistent with HADDTS. The patient presented with global developmental delay, floppy infant syndrome, ataxia, intellectual disability with speech disorder, facial dysmorphia, enamel defect, constipation, and cerebellar atrophy on brain imaging. This is the 18 th reported case of this ultra-rare disorder, and the first patient of Polish origin. Diagnosing neurodevelopmental disorders remains challenging; however, modern large-scale genetic tests and a diagnostic approach from genotype to phenotype enable the diagnosis of an increasing number of patients with rare diseases that present non-specifically but have a severe course.

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10. Jenkins CA, Janse van Rensburg MG. Autistic menopause: Where should research go from here?. Womens Health (Lond). 2026; 22: 17455057261478347.

Plain language summaryThis letter lists seven priorities for future research on autism and menopause. It is written by an early career researcher/assistant professor and a community researcher. Both are neurodivergent themselves. This letter lists seven priorities for future research on autism and menopause. It is written by an early career researcher/assistant professor and a community researcher. Both are neurodivergent themselves. eng.

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11. Mataix-Cols D, Ringberg H, Russell A. Beyond repetitive behaviours: Recognising and treating OCD in autistic individuals. Span J Psychiatry Ment Health. 2026.

Obsessive-compulsive disorder (OCD) is one of the most common and impairing co-occurring conditions in autistic individuals, yet it is frequently under-recognised and undertreated. This clinical perspective examines the challenges of recognising, diagnosing, and managing OCD in autism. We discuss the overlap and important distinctions between autistic repetitive behaviours and OCD compulsions, highlighting the need for careful differential diagnosis to ensure that treatable OCD is identified without pathologising core autistic characteristics. We review the limited clinical trial evidence on autism-adapted cognitive behavioural therapy (CBT) for OCD, arguing that the scarcity of treatment trials is likely to reflect a lack of research rather than a lack of efficacy. We also consider barriers to accessing specialist care and discuss the potential of therapist-supported internet-delivered CBT to expand access to evidence-based treatment. Finally, we outline priorities for clinical practice and research, including improving recognition of OCD in autistic people, increasing their inclusion in treatment trials, and developing accessible, autism-adapted interventions.

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12. Narzisi A, Muccio R, Fantozzi P, Valente E, Tolomei G, Berloffa S, Viglione V, Milone A, Masi G. What Kanner saw but did not name: Sensory atypicalities in autism from 1943 to today. Span J Psychiatry Ment Health. 2026.

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13. Niu C, An JJ, Masterson HV, Xu B. Sexual dimorphism of autism-like phenotypes in microglial eIF4E overexpression mice. bioRxiv. 2026.

BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by deficits in social communication and interaction, and restricted interests or repetitive behaviors. ASD is approximately four times more prevalent in males than in females. In this study, we investigated whether sex hormones or sex chromosomes underlie the male bias in ASD susceptibility. METHODS: We used the MG (4E) mouse model, in which microglial eIF4E overexpression produces robust male-biased ASD-like phenotypes. To distinguish the contributions of sex hormones and sex chromosomes, MG (4E) mice were crossed with four-core-genotype (FCG) mice carrying Sry gene manipulations, generating eight genotypes of experimental mice. Social interaction and repetitive behaviors were assessed using standard behavioral assays. Dendritic spine density was quantified in Thy1-GFP mice. Expression of estrogen receptors (ERs) and androgen receptor (AR) was examined in microglia isolated from control and MG (4E) mice. RESULTS: Sex hormones, rather than non- Sry genes on sex chromosomes, are responsible for the male-biased deficits in social interaction and the increase in dendritic spine density. At postnatal day 14, ERs were undetectable in microglia, whereas ER expression was readily detected in neurons. CONCLUSIONS: These findings demonstrate that sex hormones are a major determinant of the increased susceptibility of males to ASD-like phenotypes in MG (4E) mice. The absence of ER expression in microglia suggests that sex hormones may act indirectly through hormone- responsive neurons to regulate microglia-neuron interactions during neurodevelopment.

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14. Piris J, Balaguer-Sancho J, Arriola-Clúa CM, Luis-Ruiz AB. Perceived Autism-Related Service Adaptation in Psychosocial Rehabilitation: Views of Service Users and Professionals. Int J Soc Psychiatry. 2026: 207640261486354.

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15. Prasad S, Elisha DH, Huang J, Mittal R, Eshraghi AA. Bridging autism spectrum disorder and otolaryngology: A bibliometric analysis of research trends and clinical implications. Res Dev Disabil. 2026; 177: 105370.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition often accompanied by comorbid ear, nose, and throat (ENT) disorders, including hearing loss, otitis media, auditory processing deficits, and sleep-disordered breathing. These conditions can further impair communication and behavior, yet research at the ASD-ENT intersection remains scattered. This study presents the first bibliometric analysis of ASD-related ENT research to map trends, identify influential contributions, and guide future clinical integration. A systematic PubMed search identified 107 peer-reviewed articles addressing ENT conditions in ASD populations. Citation data and metadata were extracted from Web of Science and analyzed using descriptive statistics and visualization tools. Otology and audiology comprised 40% of publications, followed by cochlear implantation (15%) and speech or communication-focused studies (14%). The United States led in volume and citations, though contributions from China, Egypt, and Europe highlighted growing global interest. Institutional collaboration was common, with 75% of studies involving multiple centers. Thematic growth was observed in areas such as auditory hypersensitivity, vestibular dysfunction, and ENT-related sleep disorders. However, research remains primarily pediatric and observational, with limited focus on adolescent or adult populations. Our findings support routine ENT screening in individuals with ASD, especially for hearing and sleep-related concerns. Interdisciplinary approaches involving audiology, speech therapy, and neurodevelopmental care are essential for improving outcomes. This bibliometric analysis highlights the evolution of ASD-ENT research and underscores the need for expanded lifespan-inclusive studies to address these clinically significant comorbidities.

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16. Sun J, Zhou YW, Cheng C, He XY, Lu JZ, Qian XY, Li A, Gao X. [Autism spectrum disorder and hearing impairment: association mechanism, causal exploration and clinical implications]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2026; 61(8): 949-54.

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17. Swaby D, Chhaniara E, Vue M, Dubey S. Pediatric Scurvy Presenting With Vertebral Insufficiency Fractures Mimicking Chronic Recurrent Multifocal Osteomyelitis in a Child With Autism Spectrum Disorder. Cureus. 2026; 18(8): e114135.

Although rare in high-income countries, scurvy remains an important consideration in children with longstanding and highly restrictive eating habits, particularly those with autism spectrum disorder (ASD). Children with scurvy often undergo evaluation for infection, inflammatory bone disease, or malignancy before the diagnosis becomes apparent. This report describes an eight-year-old non-verbal boy with ASD who presented with progressive lower extremity pain and refusal to bear weight or walk. Imaging demonstrated diffuse osteopenia with classic metaphyseal changes of scurvy on radiographs, multiple vertebral compression deformities, and multifocal marrow signal abnormalities on MRI that closely mimicked chronic recurrent multifocal osteomyelitis (CRMO). Further assessment revealed a markedly restricted diet, characteristic skin findings, and a serum vitamin C level < 0.1 mg/dL, confirming the diagnosis of scurvy. Additional nutritional deficiencies of vitamins A, D, and E were identified. Following initiation of nutritional rehabilitation including vitamin C therapy, the patient experienced rapid improvement, with resolution of pain and restoration of weight-bearing ability. This case illustrates that pediatric scurvy can closely mimic CRMO clinically and radiographically, highlighting an important diagnostic pitfall and emphasizing the importance of careful dietary assessment to avoid unnecessary invasive diagnostic procedures.

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18. Wang F, Zou E, Yin P, Liang F, Xing Y, Xing Y, Wang Y, Zou X, Cen C. Multidimensional Correlates of Mental Health and Quality of Life in Chinese Caregivers of Preschool-Aged Autistic Children. J Autism Dev Disord. 2026.

PURPOSE: We examined correlates of mental health and quality of life (QoL) among Chinese caregivers of preschool-aged autistic children (aged 18-59 months), using baseline data collected prior to intervention enrollment at a specialist autism center. METHODS: In this cross-sectional study, 424 caregivers (84.2% mothers) attending an urban autism center in Guangzhou completed measures of child characteristics, parental factors, and environmental variables. Hierarchical regression identified independent correlates of five outcomes (mental health and four QoL domains). RESULTS: Parental distress was the strongest independent correlate of all outcomes (β = 0.384 for mental health symptoms; β = -0.327 to - 0.466 for QoL domains; all P < 0.01). At the Bonferroni-corrected threshold, positive coping was associated with better psychological QoL (β = 0.176, P < 0.001), and social motivation difficulties with poorer psychological and environmental QoL. Having more than one child was associated with better psychological, social and environmental QoL. In exploratory analyses, social motivation difficulties showed indirect associations with poorer outcomes through parental distress; positive reframing was associated with fewer mental health symptoms and better environmental QoL; self-blame and religious coping each amplified the distress-mental health association (both P < 0.01). CONCLUSION: Parental distress was the most consistently associated factor across caregiver mental health and all QoL domains. Self-blame and religious coping amplified the distress-mental health association, while adaptive coping was associated with better outcomes in psychological QoL. These findings underscore the need for further investigation into parental distress and self-blame as key correlates of caregiver well-being in this population.

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