1. Akan A, Rose E, Maarabouni R, Thorns H, Taylor A, Estien D, Hyde Z. « We Realised We Were Not in it by Ourselves. » Exploring Experiences of a Multidisciplinary Psychoeducational Workshop for Parents With a Child Diagnosed With Autism Spectrum Condition: A Thematic Analysis. Clin Child Psychol Psychiatry;2026 (Feb 6):13591045261418179.

Autism Spectrum Condition (ASC) brings distinct experiences for families, especially around social communication and understanding certain behaviours, which may require tailored support and approaches. Best practice guidelines emphasise the need for timely post-diagnostic support for parents. This study explores parents’ experiences and perceived impact of a multidisciplinary psychoeducational workshop designed for parents of children with ASC, conducted in a child and young people’s mental health service in the east of London, UK. Using a qualitative design with Thematic Analysis, semi-structured interviews were conducted with 29 parents and carers who had attended the workshop within the past year. Findings revealed that parents found the workshop valuable, both for acquiring practical strategies to support their child and for fostering a sense of community. Some participants expressed a desire for earlier intervention and emphasised the need for follow-up support. Overall, parents reported increased understanding of their child’s condition, which contributed to greater acceptance and improved family dynamics. The findings suggest that such interventions may enhance parental confidence, reduce household stress, and positively impact both child and parent wellbeing. These insights highlight the importance of accessible, ongoing support for families navigating ASC-related challenges. When a child is diagnosed with Autism Spectrum Condition (ASC), it can be a confusing and emotional time for parents and carers. They may have questions about what the diagnosis means, how to support their child, and what help is available. Feeling uncertain and isolated is common. This study looked at a special workshop that aimed to support parents after their child received an autism diagnosis. The workshop was run by a team of professionals, including psychologists and other specialists at a children’s mental health service in East London. To understand how helpful the workshop was, researchers interviewed 29 parents and carers who had attended it in the past year. The conversations showed that the workshop made a big difference. Parents said they learned useful ways to support their child at home and gained a better understanding of autism. Just as importantly, they found comfort in meeting other parents going through similar experiences. Many said they no longer felt alone. Some parents said they wished the workshop had been offered sooner, and others felt that more follow-up sessions would be helpful. Still, most reported feeling more confident, better able to manage challenges, and more connected as a family after attending. This study shows that group workshops like this can be a powerful way to help families navigate an autism diagnosis. They not only provide helpful information but also offer emotional support and connection. Services that support children with autism should consider offering timely, accessible sessions like this to help families feel more prepared, less stressed, and more hopeful for the future. eng

Lien vers le texte intégral (Open Access ou abonnement)

2. Almughyiri S. Understanding pain experiences in individuals with developmental disabilities in Saudi Arabia: A qualitative interview study. Res Dev Disabil;2026 (Feb 6);170:105242.

Research is limited on presenting optimal insights into the pain experiences of individuals with development disabilities (DD). Due to the group’s insufficient communication skills, experts find it challenging to accurately assess pain. As a result, individuals with DDs often encounter the consequences of undiagnosed pain. A similar risk tends to increase in certain countries, particularly the Kingdom of Saudi Arabia (KSA), considering the impact of distinct cultural and social characteristics that define pain experiences. This qualitative research, utilizing an exploratory research design and an interpretivist research philosophy, aims to critically examine pain experiences in individuals with DDs in Saudi Arabia. Semi-structured interviews were conducted with 25 healthcare professionals, family caregivers, physiotherapists, and special education teachers. Important themes identified in the current research include diverse pain interpretations, the implications of persistent behavioral changes, challenges in identifying different types of pain, pain management as an ongoing, context-specific process, and systemic and cultural factors that determine pain management in individuals with DDs in KSA. A relevant aspect emerging in the study is associated with comprehending the varied nuances of pain experiences of individuals with DDs.

Lien vers le texte intégral (Open Access ou abonnement)

3. Arshad MN, Ng SFJ, Salar S, Abiraman K, Nishi T, Zhong Z, Smalley JL, Davies PA, Moss SJ. KCC2 Activation Reverses Neurophysiological and Behavioral Deficits in Female Rett Mice. bioRxiv;2026 (Jan 13)

Rett syndrome is an X-linked neurodevelopmental disorder resulting from mutations in the MeCP2 gene, leading to intellectual disability, impaired motor coordination, decreased sociability, and seizures. Central to the underlying pathophysiology are deficits in synaptic inhibition, which are mediated by hyperpolarizing GABA (A) R currents. These events develop postnatally and are dependent upon increased neuronal Cl (-) extrusion mediated by SLC12A5 (KCC2). Therefore, we tested whether its activation modifies the disease phenotypes evident in female MeCP2 (+/-) mice, using OV350, a direct activator of KCC2. OV350 rapidly induced a sustained reduction in EEG power, accompanied by a decrease in the severity of epileptic discharges. Increased motor coordination, sociability, and spatial memory were also observed. Deficits in KCC2 phosphorylation were also seen in MeCP2 (+/-) mice, consistent with reductions in its activity that were also ameliorated by OV350. Thus, KCC2 activation may be efficacious in limiting the impact of Rett syndrome and other neurodevelopmental disorders.

Lien vers le texte intégral (Open Access ou abonnement)

4. Bradley RS, Quetsch L, Del Rosario EA, Shields K. A Mixed Methods Exploration of Emergency Service Use Among Autistic Youth. J Autism Dev Disord;2026 (Feb 6)

PURPOSE: Autistic youth are at increased risk for needing emergency services compared to their non-autistic peers. While research has begun to explore the nature of emergency service use in this group, researchers have not yet assessed important individual-, family-, and community-level factors that may be associated with these encounters. This study aimed to address this gap in the field via a mixed methods design by characterizing families of autistic children who have utilized emergency services, examining factors accounting for significant differences in service utilization, and exploring family experiences and satisfaction with emergency service encounters. METHOD: 77 caregivers of autistic individuals who endorsed current child challenging behavior completed measures assessing child, family, and community variables. 38 caregivers had used emergency services in recent years; a subset of caregivers (n = 8) completed interviews about their experiences with emergency services. RESULTS: Bivariate analyses and a multivariate analysis of variance were conducted with individual, family, and community variables to determine group differences for families with and without recent emergency service use. Child psychiatric co-occurring conditions (F(3, 70) = 17.40, p < .001, partial η(2) = 0.20) and child aggressive behavior (F(1, 72) = 11.22, p = .001, partial η(2) = 0.14) were significantly associated with emergency service use. In qualitative interviews, caregivers described a range of facilitators and barriers to emergency care. CONCLUSIONS: These findings shed light on clinical characteristics that may be important for developing prevention efforts and indicate a significant need for broad reform at the intersection of emergency care and autism services.

Lien vers le texte intégral (Open Access ou abonnement)

5. Chagnon ZH, Casper DM, Witte TH, Tomeny TS. A Scale Development and Examination of Neurotypical College Students’ Perceived Barriers to Interacting With Peers on the Autism Spectrum. J Autism Dev Disord;2026 (Feb 6)

Lien vers le texte intégral (Open Access ou abonnement)

6. Chen L, Cheng J. Cross-professional collaboration between music therapists and special education teachers in autism interventions: a grounded theory qualitative meta-analysis. BMC Psychol;2026 (Feb 6)

Lien vers le texte intégral (Open Access ou abonnement)

7. Chen Y, Hawkins B, Puckett H, Sharp K, Lopez A, Zeithamova D, Xie H, Verbalis A, Van Meter AS, Gaillard WD, Kenworthy L, Vaidya CJ. From cognitive abstraction to adaptive behavior: neural bases of concept learning in autistic adolescents. bioRxiv;2026 (Jan 21)

BACKGROUND: Learned knowledge does not consistently generalize to new contexts in autistic individuals, limiting potential for adapting to real-world demands. This challenge is hypothesized to stem from difficulties with forming abstract representations, potentially arising from perceptual processing that favors local details over the gestalt. We tested the prediction that generalization would be primarily based on exemplar-specific representations in autistic youth using computational modelling coupled with neuroimaging. METHODS: Sixty-four autistic adolescents without intellectual disability (69% males; ages 14-18 years) completed a category generalization task during functional magnetic resonance imaging at two time points. Computational models estimated abstract (prototype-based) and specific (exemplar-based) representations and underlying neural correlates. We further examined associations with adaptive functioning and moderation by autistic traits. RESULTS: Contrary to predictions, we observed a consistent prototype-dominant majority, a subgroup who generalized without consistent representational reliance, and a small minority who failed to acquire category structure. Prototypes were represented in bilateral ventromedial prefrontal cortex (VMPFC), inferior parietal lobule (IPL), right frontal pole, and right lateral occipital cortex, while exemplars were represented in bilateral cuneus. Better generalization predicted better real-world adaptive functioning. Moreover, greater prototype-related activation in left IPL predicted better adaptive functioning in participants with higher autistic traits. CONCLUSIONS: These findings challenge the prevailing view that concept learning in autism relies primarily on hyper-specific perceptual processing, identify meaningful variability in representational strategies, and reveal neural pathways through which abstract representation may support real-world adaptive behavior.

Lien vers le texte intégral (Open Access ou abonnement)

8. Chiem E, Wagner L, Hernandez LM, Green S, Dapretto M. Salience Network Connectivity Relates to Sleep and Sensory Over-Responsivity in Infants at High and Low Likelihood for Autism. medRxiv;2026 (Jan 15)

Sleep problems and sensory over-responsivity (SOR) are common, co-occurring, and early-emerging features of Autism Spectrum Disorder (ASD). Yet, the early neural mechanisms underlying this relationship remain unclear. Here, we used resting-state fMRI data from the Infant Brain Imaging Study (IBIS) to examine how brain connectivity at 6 months may relate to parent-reported measures of sleep-onset problems and SOR in infants at varying familial likelihood for ASD. The right anterior insula was used in seed-based analyses to investigate Salience Network (SN) connectivity to cortical and cerebellar regions of interest previously implicated in sleep disruption, sensory processing challenges, and ASD. Infants at high (HL) and low (LL) likelihood for ASD displayed divergent patterns of SN connectivity with sensorimotor cortex, as well as cerebellar regions involved in sensorimotor processing and higher-order functions. Furthermore, stronger SN connectivity with sensorimotor cortices and cerebellar regions was associated with worse sleep-onset problems and SOR in HL infants. In contrast, stronger SN-cerebellar connectivity was related to fewer sleep-onset problems and SOR in LL infants. Our findings indicate that altered SN connectivity may result in over-attribution of attention to sensory stimuli and highlight aberrant sensory prediction learning, which may underlie worse sleep problems and higher SOR in HL infants.

Lien vers le texte intégral (Open Access ou abonnement)

9. Concepción JLJ, Yadav TS, Pickett KA, Doyle KL, Del Calvo MCO, Columna L. Too Tired, Too Busy, Still Trying: Perspectives on Exercise Participation Among Latino Parents of Children with Developmental Disabilities. J Autism Dev Disord;2026 (Feb 6)

Lien vers le texte intégral (Open Access ou abonnement)

10. Fani OR, de Jonge MV, Janssen SMJ, Ahami AOT, de Vries M. Cross-Cultural Differences in the Interpretation of Autistic Traits: A Comparison Between Iran, Malaysia, Morocco, and The Netherlands. J Autism Dev Disord;2026 (Feb 6)

PURPOSE: The diagnosis of Autism relies partly on the evaluation of social behavior. What is perceived as « appropriate » (social) behavior is influenced by culture, as culture shapes norms and beliefs about behavior. Culture might thus influence the interpretation of autistic traits and the diagnostic process. We aimed to study whether culture affects the interpretation and reporting of autistic traits and how autism knowledge is associated with these relations. METHODS: To do so, we investigated cross-cultural differences in self-reported autistic traits (autism-spectrum Quotient) and the commonness of these traits in Iran (n = 88), Malaysia (n = 181), Morocco (n = 94), and the Netherlands (n = 113). Additionally, we explored the relationship between (the commonness of) autistic traits and autism knowledge (Revised Autism Knowledge Survey) across these countries. RESULTS: The results indicated, consistent with previous studies, cross-cultural differences in both self-reported autistic traits and the commonness of these traits. Cross-cultural differences in reporting autistic traits showed that cultural background might affect their interpretation. There was a relationship between self-reported and the commonness of autistic traits. When autistic traits are considered more common, people also self-report more traits. In addition, more knowledge about autism was related to lower self-reported traits. However, within individual countries, the relationships were more nuanced. CONCLUSION: It is, hence, essential to consider cultural background and autism knowledge when assessing autism cross-culturally.

Lien vers le texte intégral (Open Access ou abonnement)

11. Ford TJL, Jeon BT, Lee H, Kim WY. Autism-like behavior Increases with age and is predated by molecular changes in Arid1b haploinsufficient mice. Neuroscience;2026 (Feb 6);594:162-171.

Genetic studies have revealed that ARID1B haploinsufficiency leads to autism spectrum disorder (ASD). Given the dynamic development of the brain and behavior, understanding the critical developmental window that influences the onset and severity of ASD-like behavior linked to ARID1B haploinsufficiency is important. Using an Arid1b haploinsufficient mouse model of ASD, we investigated age-dependent ASD-like behaviors at postnatal days 30, 60, and 120. We found that while wild type mice exhibited maturation of social and anxiety-like behaviors over the developmental window, Arid1b haploinsufficient mice showed no progression in the maturation of these behaviors. We also examined oxytocin expression in various brain regions across different developmental stages. Oxytocin mRNA levels in different brain regions were downregulated in Arid1b haploinsufficient mice throughout development and remained reduced with age. Finally, we explored corticosterone expression in Arid1b haploinsufficient mice to determine whether the allostatic regulation between oxytocin and corticosterone is altered in the context of social threat. Both wild type and Arid1b haploinsufficient mice displayed elevated corticosterone levels after social threat. However, Arid1b haploinsufficient mice showed significantly higher corticosterone and lower oxytocin levels than controls, suggesting disrupted allostatic regulation between oxytocin and corticosterone in Arid1b haploinsufficient mice. Our results show that the Arid1b haploinsufficient condition impairs the maturation of social and anxiety-like behaviors associated with ASD, with molecular alterations preceding behavioral deficits in this condition.

Lien vers le texte intégral (Open Access ou abonnement)

12. Georgiou G, Shalev I, Fanti KA, Uzefovsky F. Empathic Disequilibrium in Autistic Traits and CU Traits: Investigating Empathy Imbalance in Children. Res Child Adolesc Psychopathol;2026 (Feb 6);54(1):26.

The current study investigated the relationship between CU traits, autistic traits, and empathic disequilibrium, which reflects the imbalance between cognitive empathy (CE) and affective empathy (AE). Based on previous findings with adults, we hypothesized that children with elevated CU or autistic traits exhibit either AE or CE dominance in their empathy profiles. A total of 163 children aged 4 to 10 years (Mage = 7.30) participated in the study and were evaluated using reliable parent-report instruments. Polynomial regression with response surface analysis (PRRSA) was used to analyse the relationships between empathic disequilibrium and trait scores, while adjusting for age, sex, and overall empathy levels. The results indicated a notable association between AE dominance and autistic traits, reinforcing previous findings that suggest a different developmental profile of children with autistic characteristics. Conversely, lower levels of empathic disequilibrium (both AE and CE dominance) were linked to CU traits. CU traits were also related to a general reduction in empathy across both empathy types, indicating a broader empathic deficit. Additionally, age showed a positive correlation with both CU and autistic traits, while no gender differences were observed for either trait. These findings imply that empathic disequilibrium could serve as a valuable framework for understanding the emotional profiles of children with autistic traits and CU traits.

Lien vers le texte intégral (Open Access ou abonnement)

13. Gill C, Zuo Y, Ha DS, Littman R, Hong J, Cheng J, Blencowe M, Wang SS, Hong W, Wu YE, Yang X. Convergence and divergence of genes informed by common and rare variants of autism spectrum disorders in tissue-specific pathways and gene networks. Transl Psychiatry;2026 (Feb 6)

The genetic heterogeneity of autism spectrum disorder (ASD) presents significant challenges in understanding its pathogenic mechanisms, as the genetic risk involves numerous common variants and rare de novo or inherited variants. Prior research has mainly focused on identifying rare variants and their impact on neurodevelopment and neuronal functions in cortical brain regions. By contrast, common variants, which contribute substantially to ASD heritability, remain understudied, suggesting a need to consider both variant types to understand ASD’s genetic mechanisms. Previous studies have also implicated subcortical brain regions and peripheral digestive and immune systems, but tissue-specific mechanisms remain unclear. We address these knowledge gaps by identifying gene networks, pathways, and key regulators informed by ASD common variants in brain and peripheral tissues, further examining whether these networks also capture genes informed by rare variants. Our approach integrates genome wide association study (GWAS) summary statistics, tissue-level genetics of gene expression, and gene coexpression and transcriptional regulatory networks across ~50 tissues. Our multitissue, multiomics analysis reveals that key brain regions and networks crucial for synaptic signaling and neurodevelopment are enriched for both rare and common variants, whereas peripheral tissues, such as the digestive and immune systems, are primarily informed by common variants. This partitioning of key tissues and biological pathways into core (targeted by both variant types) and modifying components provide insight into ASD heterogeneity. We also identified central gene network regulators, such as SYT1 and ADD2, which may orchestrate the effects of both common and rare ASD genetic risk factors on ASD pathogenesis.

Lien vers le texte intégral (Open Access ou abonnement)

14. Huang J, Kang B, Xia X, Guo Z, Lv Y, Yang W, Wang C, Wang J, Liao S. Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis. Front Neurosci;2025;19:1656418.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID). However, its diagnostic rate needs to be improved by screening for specific populations. Here, we determined the genetic cause of three ID patients in the affected pedigree and derived diagnostic insights for FXS. Enrolled at Henan Provincial People’s Hospital in April 2025, the family underwent multiple diagnostic tests. Whole-exome sequencing failed to detect causative variants-consistent with its inability to identify dynamic trinucleotide repeat expansions. Expanded pedigree analysis showed the inheritance did not fit typical autosomal dominant/recessive or X-linked models. This raised suspicion of FXS. Trinucleotide repeat primed PCR with capillary electrophoresis (TP-PCR/CE) confirmed proband III-1 as an FXS full-mutation individual, and comprehensive FXS analysis (CAFXS) validated this result while identifying counselee III-2 as a female pre-mutation carrier. All three ID cases harbored FMR1 full-mutation, with ID severity correlating with CGG repeat length. Notably, the maternal pre-mutation carrier (152 CGG repeats) had offspring with variable repeat dynamics: full-mutation (427 repeats) and reduced pre-mutation (71 repeats in III-2). These findings confirm FXS as the ID etiology and emphasize the clinical necessity of FXS-targeted screening in ID families with atypical inheritance patterns.

Lien vers le texte intégral (Open Access ou abonnement)

15. Jeffrey Vidt B. Sacred Sensations: Achievable Spirituality in Severe Autism. J Pastoral Care Counsel;2026 (Feb 6):15423050261420829.

This essay explores the spiritual lives of individuals with severe autism through the lenses of embodiment theology, disability theology, and personal storytelling. Drawing on the author’s experience as both a father of a child with severe autism and spiritual care provider, it reframes spirituality as an embodied and sensory reality rather than primarily cognitive. The essay challenges providers to expand their spiritual imagination, recognizing sensory experiences as sacred and inviting new approaches to spiritual care.

Lien vers le texte intégral (Open Access ou abonnement)

16. Kiely KP, Brazendale K, Hill M, Burkart S, Beets MW, Adams EL, Armstrong B, St Laurent C, Hogan A, White Iii JW, Finnegan O, Culverhouse J, Holmes A, Weaver RG. Obesogenic behaviors during structured periods among children and adolescents with intellectual and developmental disabilities: a systematic review and meta-analysis. Int J Behav Nutr Phys Act;2026 (Feb 5)

BACKGROUND: Children and adolescents with intellectual and developmental disabilities (IDD) are at greater risk for obesity and poor obesogenic behaviors (e.g., physical activity, screen time, diet, sleep) than their typically developing counterparts. The Structured Days Hypothesis (SDH) suggests that in typically developing children and adolescents, obesogenic behaviors worsen during periods of reduced structure (e.g., weekend or summer vacation). However, children and adolescents with IDD have unique factors that may alter how structure (i.e., pre-planned, segmented, adult supervised, out-of-home programs) influences obesogenic behaviors. Therefore, the objective of this systematic review and meta-analysis is to examine obesogenic behaviors during periods of more and less structure among children and adolescents with IDD. METHODS: A comprehensive search of PubMed, PsycINFO, Embase, and Web of Science was performed through the end of 2024 based on the PICO framework. Studies were eligible if they included youth with IDD and measured obesogenic behaviors across contexts with differing degrees of structure. Two reviewers independently completed the screening process, extracted all relevant information, and evaluated methodological quality using the NHLBI tool. Results were synthesized using fixed- and random-effects meta-analyses and visually represented with forest plots. RESULTS: A total of 4,236 papers were screened with 323 full-text articles retrieved. After screening, 33 total studies were identified (physical activity = 23, sedentary behaviors = 12, sleep = 11, diet = 1). Meta-analyses indicated that the standardized mean difference of physical activity (Random = 0.27, [95%CI: 0.13-0.40], p < 0.00), and diet (0.16, [95%CI: 0.03-0.29], p = 0.02) aligned with the SDH while sleep (Random = -0.01, [95%CI: -0.16-0.14], p = 0.88), sedentary and screen time (Random = -0.01, [95%CI: -0.38-0.36], p = 0.95) did not align. CONCLUSIONS: Periods of greater structure were associated with more favorable physical activity and diet outcomes among children and adolescents with IDD, although evidence for dietary behaviors was limited. Findings support the relevance of the SDH in this population while highlighting substantial gaps in the literature, including small study numbers and methodological heterogeneity. Future research using rigorous, longitudinal designs is needed to better understand the relationship between structure and obesogenic behaviors among children and adolescents with IDD.

Lien vers le texte intégral (Open Access ou abonnement)

17. Leif E, Roscoe E, Rae L, Sheets S. Component analysis of a self-monitoring intervention for increasing task engagement for individuals with developmental disabilities. J Appl Behav Anal;2026 (Apr);59(2):e70053.

Self-monitoring (SM) has been used as part of intervention packages to enhance skills such as leisure and vocational engagement for individuals with intellectual and developmental disabilities (IDD). However, the effectiveness of SM alone remains unclear. We analyzed components of an SM intervention to increase task engagement for five individuals with IDD. Participants were first taught to accurately self-monitor their engagement. Sequential analyses evaluated SM alone, SM + differential reinforcement (DR) for accurate SM, SM + DR for accurate SM and task engagement, and DR for task engagement. SM alone was ineffective. Combining SM with DR for accurate SM improved accuracy of SM for all participants but increased task engagement for only two. Combining SM with DR for both accurate SM and task engagement increased engagement for the remaining participants. High levels of task engagement were maintained when reinforcement for engagement was provided without SM. Implications for intervention design are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

18. Li P, Huang Y, Zhou Y, Hu S. [Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2025 (Nov 10);42(11):1354-1363.

OBJECTIVE: To analyze the clinical manifestations and genotype of a child with You-Hoover-Fong syndrome (YHFS) to enhance clinical understanding of this disease. METHODS: Clinical data of a child who visited the Department of Pediatric Neurorehabilitation of the Women’s and Children’s Hospital Affiliated to Xiamen University in March 2025 for global developmental delay was collected. Peripheral blood samples of the child and his parents were collected for chromosomal microarray analysis and whole exome sequencing (WES). Sanger sequencing was performed for parental validation, and candidate variant was assessed for pathogenicity. Clinical and genetic analyses were conducted based on the child’s phenotype. A literature review was performed by retrieving previously reported cases of YHFS due to TELO2 gene variants. This study was approved by the Medical Ethics Committee of the Women’s and Children’s Hospital Affiliated to Xiamen University (Ethics No.: KY-2023-044-K02). RESULTS: The child was a 1-year-and-2-month-old male presenting with global developmental delay, encephalodysplasia, congenital heart disease and distinctive facial features. WES revealed that the child has harbored compound heterozygous variants of the TELO2 gene, namely c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs21). Sanger sequencing confirmed that his mother carried a heterozygous c.1826G>A variant and his father carried a heterozygous c.1514_1515delAG variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as likely pathogenic (PM2_Supproting+PM3_Strong+PP1+PP3; PVS1+PM2_Supproting). Literature review has identified 9 articles reporting 31 cases of YHFS due to TELO2 gene variants, with primary clinical manifestations including developmental delay, intellectual disability, distinctive facial features, and congenital heart disease. CONCLUSION: The c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs*21) compound heterozygous variants of the TELO2 gene probably underlay the pathogenesis of this child. Above finding has provided a basis for the clinical and genetic diagnosis of the child, which also enriched the mutational spectrum of the TELO2 gene, and improved understanding of YHFS.

Lien vers le texte intégral (Open Access ou abonnement)

19. Lotfi MH, Farajkhoda T, Doost-Mohammadi F, Dehghani A, Fallahzadeh H, Sadeghiyeh T. Parental and professional perspectives on prenatal psychosocial experiences perceived to be linked to autism spectrum disorder: a qualitative content analysis study. BMC Psychiatry;2026 (Feb 6)

Lien vers le texte intégral (Open Access ou abonnement)

20. Lu Q, Tian C, Li L, Liu X, Liu J, He Y, Zhang A, Wang W. Nicotinamide mononucleotide rescues perinatal arsenic-induced autism-like behaviours via modulation of NAD+ metabolism in mice. Ecotoxicol Environ Saf;2026 (Feb 6);311:119840.

Recent epidemiological studies have indicated that exposure to arsenic (As), particularly during key phases of central nervous system development, may be an environmental risk factor for autism spectrum disorder (ASD). While nicotinamide mononucleotide (NMN) confers neuroprotection by elevating tissue nicotinamide adenine dinucleotide (NAD+), its efficacy against ASD pathophysiology remains unexplored. Here, a mouse model of perinatal As exposure (1.2 mg/kg/d) and NMN intervention (500 mg/L) was employed, and NMN was found to rescue As-induced NAD+ depletion in offspring brain tissues. This restoration coincided with increased synaptic density in the cortex and significant attenuation of autism-like behavioural phenotypes. Additionally, NMN restored As-induced intestinal dysbiosis and enriched beneficial genera including Lactobacillus and Akkermansia, restoring the Firmicutes/Bacteroidetes ratio. Consistently, As exposure exacerbated inflammatory damage in colonic tissues, elevated pro-inflammatory cytokine levels in serum, and activated cortical microglia and astrocytes. In contrast, NMN supplementation markedly alleviated these inflammatory and neuroimmune disturbances. Notably, NMN also increased Clostridium species, which synthesise vitamin B3 (VB3), a precursor of NAD+ . Moreover, the intervention alleviated the As-induced disruption of colonic epithelial tight junctions and polarity, while concomitantly upregulating NAD+ synthase and NAD+ precursor transporter proteins that were inhibited by As. Collectively, these actions restored perinatal As-induced NAD+ deficits in offspring, providing novel mechanistic insights into the therapeutic potential of NMN against As-driven autism-like phenotypes. These findings offer a foundation for dietary supplementation with NMN as a strategy for clinical translation.

Lien vers le texte intégral (Open Access ou abonnement)

21. Lundqvist LO. Emotional Contagion and Autistic Traits: Disentangling Components of Social-Emotional Processing. J Autism Dev Disord;2026 (Feb 6)

Lien vers le texte intégral (Open Access ou abonnement)

22. Lv C, Song D, Ni J, Qing H, Quan Z. Multiple neural networks from cognition to motivation of prosocial behaviour in rodents: Potential mechanism between empathy and autism spectrum disorder. Prog Neurobiol;2026 (Feb 6):102892.

Prosocial behaviour, as a facet of social behaviour across species, entails voluntary actions that benefit others, including helping and comforting behaviours. To explain how external sensory information is integrated to generate motivation and ultimately govern prosocial action, we organize its emergence into three interacting components: a social orientation process centered on the superior colliculus (SC), which selects and evaluates social cues and calibrates attention and arousal; a framework formed by the medial prefrontal cortex (mPFC) and the anterior cingulate cortex (ACC), which transforms perceived distress into internal representations, forming empathic memory that guides subsequent behavior; and neuromodulatory systems (e.g., oxytocin and dopamine) together with projections linking the insular cortex (IC), thalamus, and ventral tegmental area (VTA), that compose social motivation, assign value to prosocial acts and promote helping. Evidence across these processes suggests alignment and potential generalisation in autism spectrum disorder (ASD), which is marked by atypical attention to social signals and diminished responsiveness to social reward. We define prosocial neural network mapping as the characterisation of interregional projections and their neuromodulatory regulation to explain how social information is organised and transformed, offering new insights into circuit-level pathology in ASD and helping identify therapeutic targets aimed at restoring social salience and enhancing social motivation.

Lien vers le texte intégral (Open Access ou abonnement)

23. Mitchell S. Treatment of disruptive mood dysregulation disorder with autism spectrum disorder and attention-deficit/hyperactivity disorder. Ment Health Clin;2026 (Feb);16(1):1-6.

Lien vers le texte intégral (Open Access ou abonnement)

24. Monti M, Molholm S, Foxe JJ, Cuppini C. A neuro-computational framework for modeling the development of cross-sensory interactions in Autism: from mechanistic understanding to targeted intervention. Res Sq;2026 (Jan 14)

Recent studies have shown that multisensory processing in children shifts from a competitive to a facilitative state as development progresses, and this transition appears delayed in children with autism spectrum diagnosis (ASD). The neural mechanisms underlying this developmental change, and its alteration in ASD, remain largely unknown. To address this gap, we investigated how sensory modalities interact in the developing brain using a biologically plausible neurocomputational model governed by Hebbian learning rules. We also explored the neural substrates that may underlie atypical multisensory development in ASD. Our results suggest that inhibitory cross-modal projections gradually become excitatory during development, mediating the observed shift from competition to facilitation in typical children. Furthermore, our simulations show that the delayed transition in ASD may stem either from reduced neural plasticity or diminished multisensory experience. Our model informs the potential benefits that a multisensory rehabilitation strategy may have on the development of perceptual abilities of ASD children, and possibly on the core social symptoms characterizing Autism as well. By linking computational modelling with behavioural findings, our work provides a framework for understanding atypical sensory development. We anticipate that this model could inform future neurophysiological studies and guide the design of multisensory-based therapeutic interventions for ASD.

Lien vers le texte intégral (Open Access ou abonnement)

25. Moreno Fernandes M, Rodrigues Neto M, M SP, Pena Fernandes T, Maia AC, Ayres Pereira I, Passas A, Grangeia A, Madureira C. A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report. Cureus;2026 (Jan);18(1):e100834.

PTEN hamartoma tumor syndrome (PHTS) is a rare genetic condition associated with neurodevelopmental disorders, macrocephaly, and increased cancer risk. We report the case of a four-year-old girl with congenital hypothyroidism, progressive macrocephaly, and global developmental delay, later diagnosed with autism spectrum disorder (ASD). Brain MRI revealed megalencephaly with prominent extra-axial spaces and a diffusely thickened corpus callosum. Genetic testing identified a novel frameshift variant in the PTEN gene. This case highlights clinical findings that should raise suspicion for PHTS and was documented to emphasize the importance of recognizing PTEN-related disorders in children presenting with autism and macrocephaly, particularly when oncologic manifestations are not yet evident, thereby supporting early genetic diagnosis and appropriate surveillance.

Lien vers le texte intégral (Open Access ou abonnement)

26. Musa H, Uda Yahaya NIK, Ismail AZ, Yusoff NA, Nasrudin N, Abang Abdullah AF, Abdul Rashid A, Ismail IH. Excessive screen time among young Malaysian children: associated factors and influences on behaviour and development. BMJ Paediatr Open;2026 (Feb 5);10(1)

OBJECTIVE: To determine the risk for behaviour and developmental problems and factors associated with excessive usage of screen time in children at 18 months of age. METHODS: A cross-sectional study was conducted among parents of children aged 18 months in four primary health clinics. Parents responded to questionnaires, including the Developmental Checklist and Baby Paediatric Symptom Checklist (BPSC), to screen risk for behaviour problems. Screen time of more than 1 hour is defined as excessive. RESULTS: A total of 254 study participants were included. Most participants were male (52.8%), the eldest child (39.8%) and of Malay ethnicity (91.3%). More than half (66.1%) had screen time of less than 1 hour. Children cared for in a mixed care environment were 3.10 times more likely to experience excessive screen time (p=0.048). No significant association was found between screen time and developmental risk. A higher proportion of participants who scored more than three on the BPSC had more than 1 hour of screen time, although this was not significant (p=0.475). CONCLUSIONS: We found no significant association between screen time and the risk of developmental and behavioural problems. However, one-third of the study participants were engaged in excessive screen time. Children in mixed care environments were more likely to have excessive screen time, highlighting the need for targeted guidance for caregivers in these settings.

Lien vers le texte intégral (Open Access ou abonnement)

27. Otsuka S, Xu J, Contractor A. Autism associated mutation in Cacna1d causes perseverative behavioral phenotype in mice. bioRxiv;2026 (Jan 14)

Behavioral inflexibility and perseveration are core features of autism spectrum disorder and are frequently modeled in mice using reversal learning and repetitive behavior assays. Mutations in CACNA1D , which encodes the L-type calcium channel Cav1.3, have been linked to autism, yet their behavioral consequences remain incompletely characterized. We examined mice carrying the autism-associated Cacna1d (G407R) gain-of-function mutation across a battery of assays assessing learning, flexibility, and repetitive behavior. Mutant mice learned spatial discriminations and instrumental contingencies at rates comparable to wild-type controls but exhibited deficits during reversal learning following intermediate and extended overtraining, as well as under probabilistic reinforcement. Across ethological assays, mutant mice showed increased grooming, marble burying, and nestlet shredding, consistent with enhanced perseverative behavior. Anxiety-related measures and general locomotion were largely unaffected. These results identify Cav1.3 gain-of-function as a selective regulator of behavioral flexibility and support a role for calcium-dependent corticostriatal plasticity in autism-associated perseveration.

Lien vers le texte intégral (Open Access ou abonnement)

28. Perez-Benavides E, Wang J, Chen Z, Beeler-Duden S, Jackokes Z, Van Horn JD, Schatz MC, Pelphrey KA, Venkataraman A. Behavioral Assessment Reliability in Clinical Phenotyping and Biomarker Research for Autism. medRxiv;2026 (Jan 26)

Autism Spectrum Disorder standardized behavioral assessments provide quantitative measures of symptoms, yet their reliability and consistency have not been systematically evaluated. We present the first large-scale comparative analysis of four widely used assessments. We analyzed behavioral assessments across three autism cohorts using correlations, clustering, and diagnostic agreement analyses. We related behavioral variation to genetic and imaging data to evaluate biomarker associations. Sentence-level embeddings generated by large language models reveal substantial semantic overlap across instruments. Nonetheless, behavioral scores are weakly correlated (0.26 ± 0.21), and diagnostic classification shows only 65-80% agreement between tests. These patterns hold across three datasets comprising N = 1 954. None of the assessments show consistent associations with widely studied MRI or genetic biomarkers. These findings expose critical inconsistencies among widely used autism assessments and underscore the need for more reliable tools to support precision phenotyping, biomarker discovery, and individualized care. Rather than diminishing the utility of behavioral assessment in autism, the inconsistencies identified here highlight a critical opportunity to refine how behavioral phenotypes are defined and operationalized.

Lien vers le texte intégral (Open Access ou abonnement)

29. Peta Martinez NA, Reinoso Arnaldi M, Santiago-Rodriguez TM, Rodriguez-Fernandez IA. Microbiota-Based Interventions Differentially Rescue Gut and Social Behavior Phenotypes in a Drosophila Autism-like Model. bioRxiv;2026 (Jan 12)

INTRODUCTION: Autism spectrum disorder (ASD) is a lifelong neurological and developmental disorder that has no cure and is often accompanied by gastrointestinal (GI) issues. The bidirectional communication system known as the gut microbiota-brain axis may help explain how GI dysfunction contributes to neurological symptoms. Loss-of-function mutations in the histone demethylases KDM5A , KDM5B or KDM5C are found in patients with intellectual disability and ASD. Previous studies using a Drosophila Kdm5 loss-of-function ( Kdm5 (LOF) ) ASD-like model revealed gut microbial dysbiosis, reduced abundance of Lactiplantibacillus plantarum , and impaired social behavior. While L. plantarum supplementation rescued intestinal abnormalities, it did not restore social behavior. METHODS: Here, we evaluated multiple microbiota-based interventions, including probiotic supplementation with Lactiplantibacillus plantarum , Lactobacillus helveticus , their combination, and fecal microbiota transplantation (FMT), to determine their capacity to modulate gut microbial composition and behavior in Kdm5 (LOF) flies. Gut bacterial abundance was quantified using colony-forming unit (CFU) assays and full-length 16S rRNA gene sequencing. Social behavior was assessed using the social distance assay, while anxiety-like behavior and locomotion were evaluated using the open field test. Gut-specific Kdm5 knockdown was used to assess tissue-specific contributions to microbiota and behavioral phenotypes. RESULTS: Kdm5 deficiency resulted in reduced abundance of culturable Lactobacillus , Acetobacter , and Enterobacter species, accompanied by impaired social behavior. L. plantarum supplementation restored gut microbial abundance in both whole-body Kdm5 (LOF) and gut-specific Kdm5 knockdown models but did not significantly rescue social behavior. In contrast, L. helveticus significantly improved social interaction in Kdm5 (LOF) flies despite minimal effects on gut bacterial abundance, revealing a dissociation between microbial restoration and behavioral outcomes. Gut-specific Kdm5 knockdown phenocopied both microbial and social defects observed in Kdm5 (LOF) mutants. Notably, FMT from healthy donors partially restored Lactobacillus abundance, reshaped gut microbial community structure, and partially improved social behavior in Kdm5 (LOF) recipient flies. CONCLUSIONS: Together, these findings identify Kdm5 as a key regulator of gut microbial viability and social behavior and demonstrate that microbiota-based interventions exert strain- and phenotype-specific effects. Our results reveal that restoration of microbial abundance alone is insufficient to rescue social behavior and highlight the importance of functional host-microbe interactions in gut-brain communication. This work establishes Drosophila as a tractable platform for dissecting epigenetic regulation of microbiota-behavior relationships relevant to ASD and for evaluating targeted probiotic and microbiota-transfer strategies.

Lien vers le texte intégral (Open Access ou abonnement)

30. Shu T, Peng K, Liu Q, Zhu Y, Wang J, Gao L. Personalized recommendation algorithm for rehabilitation intervention in children with autism spectrum disorder based on the cognitive diagnosis model. Front Psychol;2025;16:1696155.

AIM: This study applied the Cognitive Diagnostic Model (CDM) to develop a personalized recommendation algorithm for rehabilitation intervention in children and adolescents with autism spectrum disorder (ASD). METHODS: A total of 3,319 children and adolescents were included. Model selections recommended the Generalized Deterministic Input, Noisy « Or » Gate Model (GDINA), to simulate the response pattern of participants in the Autism Behavior Checklist. RESULTS: Both absolute and relative indices confirmed that the response pattern of the participants displayed acceptable fitness to GDINA. Twenty-eight symptom modalities were identified, but only 12 were assigned to over one percent of this sample. Language dysfunction is commonly observed. A diagram of the possible developmental trajectory of participants with ASD indicates that sensory and related functions can be primary targets for those with severe autistic symptoms. One possible rehabilitation route was identified in this diagram that involved 2,621 participants. A detailed personalized analysis was demonstrated in randomly selected cases from this sample. CONCLUSION: Our study developed a personalized recommended algorithm using CDM in designing individualized interventions for children and adolescents with ASD. First, our results confirmed the heterogeneity of ASD symptoms. Importantly, the information derived from the CDM allowed for the construction of a possible development diagram of the functions defined by ABC. Although these results are theoretically sound and reasonable, they remain data-driven. Further empirical validation, particularly through experience with rigorous design, is necessary to confirm the alignment between real-world practices and data-driven models.

Lien vers le texte intégral (Open Access ou abonnement)

31. Singer A. Urgency with integrity: Why the profound autism community needs brain organoids now. Neuron;2026 (Feb 4);114(3):387-389.

The profound autism community must support brain organoid research, and scientists must hurry up and build ethical guardrails so that this new technology can be put to work to improve lives.

Lien vers le texte intégral (Open Access ou abonnement)

32. Smith R, Jordaan EM, Russell DC, de Milander M, van Rooyen M, Jansen van Vuuren X, Devenier M, Bonafede C, Louw M, Kruger A, Sivhugwana I, Nkomo T, van der Merwe M. Transitioning to a Flexible, Tiered, Developmentally Informed Same-Day Screening Model for Preschoolers in Low-Resource Settings. Child Care Health Dev;2026 (Mar);52(2):e70242.

BACKGROUND: The preschool years (ages 3-5) represent a critical window for promoting development and lifelong health. However, in many low-resource settings, developmental delays, sensory impairments and emerging health risks often go undetected. Although early, integrated screening improves outcomes, early childhood care and education (ECCE) platforms in low- and middle-income countries (LMICs) are underutilized for delivering preventive services. Implementation is hindered by limited resources, poor intersectoral coordination, logistical constraints and low caregiver engagement. This study describes the iterative refinement of an initial screening protocol into a proposed flexible, tiered screening model, embedded within a guiding framework tailored to ECCE settings in LMICs. METHODS: An observational, descriptive study was conducted in low-resource urban, peri-urban and rural communities in a central South African province to collect baseline data on preschoolers’ development, sensory functioning (vision and hearing), nutrition and health (including blood pressure). The initial multi-indicator protocol was implemented and refined using a Participatory Action Learning and Action Research (PALAR) approach. Feedback from caregivers, ECCE facilitators, interpreters, student fieldworkers and healthcare professionals guided adaptations. RESULTS: Stakeholders identified key barriers, including fragmented caregiver-child scheduling, long assessment sessions, limited interpreter resources, caregiver disengagement and difficulty engaging children with developmental and behavioural challenges. In response, a proposed model was developed to consolidate visits, reduce session duration, enhance interpreter support and streamline screening tools. The flexible, tiered structure of this proposed model allows assessors to tailor screening based on observed functional capacity, improving feasibility, accuracy and cultural responsiveness. It supports scalable application across similar low-resource ECCE contexts. CONCLUSIONS: This developmentally informed, proposed screening model, operating within a flexible framework, offers a context-sensitive, scalable approach to improving early identification and referral in LMIC ECCE settings. Its adaptable structure supports broader implementation, enhances alignment with children’s developmental needs and informs future policy and integrated service planning.

Lien vers le texte intégral (Open Access ou abonnement)

33. Tekin S, Brown J, Karadeniz G. Eating behaviours of children with ASD: Associations with parental stress, perceived symptom severity, and parenting style in a sample from Türkiye. Appetite;2026 (Feb 3):108492.

Autism Spectrum Disorder (ASD) is frequently accompanied by feeding difficulties that can affect both a child’s nutritional intake and family’s well-being. Using a cross-sectional correlational design, this study explored how parenting stress, ASD symptom severity, and parenting styles (authoritative, authoritarian, permissive, and overprotective) relate to eating behaviours, particularly food fussiness and satiety responsiveness. Sixty-nine parents of children with ASD aged 2-9 were recruited from a private therapy centre and a foundation providing psychosocial and educational support in Istanbul, Türkiye. Parents reported stress using the Parental Stress Scale, parenting style using the Parent Attitude Scale, and children’s eating behaviours using the Children’s Eating Behaviour Questionnaire. Parents also rated their child’s ASD symptom severity on a single Likert-scale item developed for this study. Hierarchical regressions revealed that parental stress, symptom severity and parenting style did not predict food fussiness or satiety responsiveness. However, we found patterns suggesting associations between parenting style and children’s eating behaviours. In particular, higher levels of authoritarian parenting were associated with lower enjoyment of food, whereas more overprotective parenting was associated with greater food enjoyment. The discussion considers how culture-specific norms may shape the relationship between parenting style and children’s eating behaviours.

Lien vers le texte intégral (Open Access ou abonnement)

34. Turner TN. De Novo Variation in Autism by Sex and Diagnostic Status in 41,367 Parent-Child Trios. medRxiv;2026 (Jan 29)

Autism shows a consistent sex bias, yet how sex shapes de novo variant (DNV) risk across coding and noncoding sequence remains unclear. We analyzed DNVs in 41,367 parent-child sequenced trios from three autism family-based cohorts and compared DNV characteristics and enrichment patterns in males and females. Importantly, these trios consisted of some trios with individuals with autism and some without autism. We developed a new sex-aware DNV caller and performed intensive, feature-based investigation of each candidate DNV to produce a high-confidence callset. We identified enrichment of missense and loss-of-function (LOF) DNVs both overall and within known autism-related genes (i.e., SFARI genes). Gene-specific enrichment analyses revealed twelve genes that were exome-wide significant and specific to males, for significance, including FOXP1, SMAD6, AUTS2, CCDC168, PIEZO1, EML6, ZNF84, IGSF23, OTOG, SLC6A1, GIGYF1 , and FREM3 and four genes that were specific to females, for significance, including TAOK1, MECP2, DDX3X , and TBL1XR1 within a variant class. Direct comparisons of DNVs in males and females revealed GABBR2 as the only gene trending toward enrichment in the direct males with autism comparison to females with autism. Finally, we analyzed promoters and identified a single significant promoter region (p = 3.8×10 (-13) ), associated with the WDR74 gene, with the signal driven by DNVs observed in males with autism. Surprisingly, the noncoding RNA gene RNU2-2 lies within this significant WDR74 promoter and accounted for most of the DNVs in the region. RNU2-2 DNVs were present in 0.2% of males with autism, and several are predicted to potentially alter RNA folding. We also observed RNU2-2 DNVs in 0.2% of females with autism, including two DNVs that were recurrent (i.e., shared) with unrelated, affected males. Notably, RNU2-2 DNVs were detected in 0.1% of unaffected males and were not observed in unaffected females. Together, these results suggest that although RNU2-2 does not show a sex bias, it contributes to autism risk, which is intriguing due to a prior study implicating RNU2-2 in a severe neurodevelopmental disorder.

Lien vers le texte intégral (Open Access ou abonnement)

35. Wang Y, Guo Y, Zhu M, Zhang L, Wang L, Liu Z, Zhao Y, Yan Z, Gao J, Cao A. A Case Report: Effects of a ketogenic diet on PTEN mutation-associated autism spectrum disorder. Front Nutr;2026;13:1721018.

BACKGROUND: Autism spectrum disorder (ASD), a neurodevelopmental condition strongly associated with PTEN mutations, demonstrates limited responsiveness to current therapeutic approaches. Ketogenic diet (KD) has emerged as a promising dietary intervention in neurological disorders, including epilepsy and ASD. OBJECTIVE: This case report investigates the clinical efficacy and potential mechanisms of KD in an ASD patient with a PTEN mutation, providing evidence for genetics-guided precision nutrition therapy. METHODS: We present a 7-year, 1-month-old male with ASD and a pathogenic heterozygous PTEN p. Arg130Gln mutation, who showed suboptimal response to conventional treatments. He received a modified Atkins diet (60% fat, 30% protein, 10% carbohydrates) for 1 month, followed by 5 months of combined KD and repetitive transcranial magnetic stimulation (rTMS). Efficacy was evaluated through serial behavioral assessments, metabolic markers (blood ketones, inflammatory cytokines), and EEG monitoring. Safety parameters were documented. RESULTS: During the intervention, mean blood glucose was 4.4 mmol/L and ketones averaged 2.4 mmol/L. Significant improvements in behavior, sleep, and metabolic profiles were observed. Parents noted symptomatic improvement by day 6. Quantitative assessments (behavioral scales, metabolic markers, EEG) confirmed substantial progress after 1 month of KD and 5 months of KD-rTMS versus baseline. While the rate of improvement diminished during combined therapy compared to initial KD monotherapy, excitatory behaviors (e.g., screaming, uncontrolled running, sleep-onset difficulties) were markedly reduced compared to prior rTMS-only treatment. No adverse events (e.g., hypoglycemia, ketoacidosis) occurred, and the regimen was well-tolerated. CONCLUSION: This study provides preliminary clinical evidence for KD in PTEN-related ASD, suggesting potential modulation of the PI3K/AKT/mTOR pathway and neuroinflammation. Although limited by its single-case design and short duration, it offers a novel therapeutic approach for PTEN-mutant ASD. Multicenter randomized controlled trials are warranted to validate efficacy and safety.

Lien vers le texte intégral (Open Access ou abonnement)

36. Xie F, Li S, Mao WH, Sun Y, Wang J, Li YF, Deng YX, Chen J. [Molecular diagnosis of genetic polymorphisms related to autism spectrum disorder in children based on multi-PCR targeted sequencing technology]. Zhonghua Yu Fang Yi Xue Za Zhi;2026 (Feb 6);60(2):252-258.

Establish a multiplex PCR targeted sequencing technology to detect the single nucleotide polymorphism (SNP) sites of disease-related genes in children with autism spectrum disorder, and explore its application value as a diagnostic biomarker for autism spectrum disorder. Through a literature review, 357 candidate risk genes and their 603 mutation sites highly associated with the occurrence of autism spectrum disorder (ASD) were selected. The MFEprimer software was used to design a multiplex PCR primer library. Using this primer library and targeted gene sequencing technology, SNP polymorphisms in ASD-related risk genes were screened in 105 children with ASD and 71 healthy controls from the outpatient department of Rehabilitation Medicine in Huangshi Maternity and Children’s Health Hospital from January to August 2024. The selected polymorphic SNP sites were then validated by Sanger sequencing, in order to assess the clinical application value of the multiplex PCR-based targeted sequencing technology established in this study. The results showed that analysis of the multiplex PCR-based targeted sequencing results showed that, among the 105 children with ASD, 42 individuals carried the RELN (rs12666897) mutation site, with a mutation frequency of 40.00%; 22 individuals carried the AUTS2 (rs3735260) mutation site, with a mutation frequency of 20.95%. In contrast, among the 71 healthy controls, the mutation frequencies of RELN (rs12666897) and AUTS2 (rs3735260) were 18.31%(13 cases) and 5.63%(4 cases), respectively. The differences in mutation frequencies of these two SNPs between the ASD patients and healthy controls were statistically significant (respectively 0.002 7, 0.004 7, P<0.01). Sanger sequencing validation of the genotypes at these two sites showed complete concordance with the multiplex PCR-based targeted sequencing results, suggesting that these two SNPs may be associated with the risk of ASD onset. In conclusion, the multiplex PCR targeted high-throughput sequencing technology that established can screen for differentially expressed genes in children with ASD. Candidate gene polymorphism sites are closely associated with ASD in children, and have the potential to become new diagnostic biomarkers for ASD identification.

Lien vers le texte intégral (Open Access ou abonnement)

37. Xu X, Xu H, Li H, Zhu M, He Y, Zhang L. [Analysis of variants of VPS13B gene in a child with Cohen syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2025 (Nov 10);42(11):1387-1392.

OBJECTIVE: To explore the genetic basis for a boy affected with Cohen syndrome. METHODS: A boy admitted to Children’s Hospital of Nanjing Medical University in January 2021 was selected as the study subject. Genome DNA was extracted from peripheral blood samples from the child and his parents. Whole exome sequencing (WES) was carried out. And candidate variants were verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202106060-1). RESULTS: WES revealed that the child has harbored compound heterozygous variants of the VPS13B gene, namely c.1563+1G>A and c.3007insC (p.A1003Afs*13), which were inherited from his mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rates as pathogenic. The c.3007insC (p.A1003Afs*13) was unreported previously. CONCLUSION: The compound heterozygous variants c.1563+1G>A and c.3007insC (p.A1003Afs*13) of the VPS13B gene probably underlay the pathogenesis of Cohen syndrome in this child. Above finding has enriched the mutational spectrum of VPS13B gene.

Lien vers le texte intégral (Open Access ou abonnement)

38. Zhu M, Yang H, Feng B, Jiang Y, Zhang Y. Maternal pregnancy complications and offspring autism spectrum disorder risk: an umbrella review. Psychiatry Res;2026 (Jan 30);358:116987.

INTRODUCTION: The global prevalence of autism spectrum disorder (ASD) is increasing, yet effective strategies for early prediction and prevention are still limited. This umbrella review aims to synthesize available evidence on the association between maternal pregnancy complications and offspring ASD. METHODS: Following PRISMA guidelines, we systematically searched all published literature from PubMed, Embase, Web of Science, and Cochrane Library up to July 16, 2025, for systematic reviews on pregnancy complications and ASD. Only systematic reviews published in English were considered. Observational studies were included, while those on other neurodevelopmental disorders or teratogens were excluded. Study selection, data extraction, and quality assessment (using AMSTAR 2 and ROBIS) were conducted independently by two reviewers. Statistical analyses included random-effects meta-analysis, excess significance bias, Egger’s test for publication bias, and sensitivity analysis. RESULTS: Among 596 identified records, 43 systematic reviews were assessed, with 2 (4.65%) moderate quality, 7 (16.28%) low quality, and 34 (79.07%) critically low quality. Fourteen meta-analyses (10 complication types, 30 studies) were included. Significant associations with increased ASD risk were found for gestational diabetes (OR = 1.29, 95% CI:1.14-1.45), preconception obesity (OR = 1.42, 95%CI:1.22-1.65), excessive gestational weight gain (OR = 1.18, 95%CI:1.08-1.29), polycystic ovary syndrome (OR = 1.64, 95%CI:1.50-1.82), gestational hypertension (OR = 1.37, 95%CI:1.22-1.55), pre-eclampsia (OR = 1.50, 95%CI:1.26-1.78), unclassified pregnancy infections (OR = 1.13, 95%CI:1.03-1.23), maternal autoimmune diseases (OR = 1.30, 95%CI:1.20-1.42), and asthma (OR = 1.36, 95%CI:1.28-1.44). All analyses had a high risk of bias; no convincing evidence was identified. CONCLUSIONS: In conclusion, this umbrella review provides a stratified assessment of evidence linking pregnancy complications to offspring ASD. No associations were supported by convincing evidence; most were based on suggestive or weak evidence, with only a limited number reaching highly suggestive levels. These findings underscore the need for more robust primary studies to clarify these associations and their effect sizes.

Lien vers le texte intégral (Open Access ou abonnement)