1. Aghajani M, Aghajani M, Moghaddam EK, Faghihi M, Imani A. Acute sleep deprivation (ASD) and cardioprotection: Impact of ASD on oxytocin-mediated sympathetic nervous activation preceding myocardial infarction. Neuropeptides. 2024; 107: 102453.

INTRODUCTION: This study explored how acute sleep deprivation (ASD) before myocardial ischemia influences oxytocin release from paraventricular (PVN) neurons and its correlation with sympathetic nervous system (SNS) activity post-acute sleep loss, impacting subsequent left ventricular (LV) remodeling following myocardial infarction (MI). METHODS: The study was conducted in two phases: induction of ASD, inducing MI, blood sampling, euthanizing animals and collecting their heart and brain for histological and gene expression evaluations. The animals in first and second phase were euthanized 24 h and 14 days after MI, respectively. RESULTS: Pre-MI ASD, accompanied by increased serum epinephrine levels within 24 h of MI, upregulated oxytocin and cFos expression in the PVN. Also, pre-MI ASD resulted in decreased serum PAB levels 14 days post-MI (P < 0.001). While notable echocardiographic changes were seen in MI versus sham groups, ASD demonstrated protective effects. This was evidenced by reduced infarct size, elevated TIMP1, MMP2, and MMP9 in the LV of SD + MI animals versus MI alone (P < 0.05). Additionally, histological analysis showed reduced LV fibrosis in pre-MI ASD subjects (P < 0.05). CONCLUSION: Our study supports the notion that activation of oxytocin neurons within the PVN subsequent to ASD interacts with autonomic centers in the central nervous system. This enhanced sympathetic outflow to the heart prior to MI triggers a preconditioning response, thereby mediating cardioprotection through decreased oxidative stress biomarkers and regulated extracellular matrix (ECM) turnover.

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2. Alijanzadeh M, RajabiMajd N, RezaeiNiaraki M, Griffiths MD, Alimoradi Z. Prevalence and socio-economic determinants of growth and developmental delays among Iranian children aged under five years: A cross sectional study. BMC Pediatr. 2024; 24(1): 412.

BACKGROUND: The main cause of growth and development delays remains unknown, but it can occur as an interaction between genetic, environmental, and socio-economic factors. OBJECTIVE: The aim of the study was to investigate the prevalence and social determinants of growth and developmental delays among children aged under five years in Qazvin, Iran. METHODS: A cross-sectional study was conducted between January 2019 to December 2020 with participation of 1800 mothers with children aged 4-60 months who were referred to comprehensive health centers in Qazvin city, Iran. Structural and intermediate social determinants of health were assessed including: parents and children socio-demographic characteristics, families’ living and economic status, parents’ behavioral factors, household food security, mother’s general health, and perceived social support. Children’s growth was assessed based on their anthropometric assessment and their development was assessed using their age-specific Ages and Stages Questionnaire. Data were analyzed using univariable and multivariable logistic regression models using SPSS software version 24 and Stata version 14. RESULTS: The prevalence of developmental problems in each domain were 4.28% for personal and social delay, 5.72% for gross motor delay, 6.5% for communication delay, 6.72% for fine motor delay, and 8% for problem-solving delay. The prevalence of weight growth delays was 13.56% and height growth delays was 4.66%. Communication, gross motor, and problem-solving delays were higher among children whose fathers’ smoked cigarettes. Fine motor delays were lower among mothers with education status of high school diploma and university degree vs. the under diploma group. Personal and social delay was significantly higher among families with fair economic status and lower among children when their fathers were employed (vs. unemployed). Weight and height growth delays were higher among mothers who had experienced pregnancy complications and household food insecure families, respectively. CONCLUSION: There are different predictors of growth and developmental delay problems among Iranian children aged under five years including fathers’ smoking, families’ economic status, and household food insecurity as well as history of mothers’ pregnancy complications. The present study’s findings can be used to screen for at-risk of growth and developmental delays among children and could help in designing and implementation of timely interventions.

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3. Alispahic S, Pellicano E, Cutler A, Antoniou M. Multiple talker processing in autistic adult listeners. Sci Rep. 2024; 14(1): 14698.

Accommodating talker variability is a complex and multi-layered cognitive process. It involves shifting attention to the vocal characteristics of the talker as well as the linguistic content of their speech. Due to an interdependence between voice and phonological processing, multi-talker environments typically incur additional processing costs compared to single-talker environments. A failure or inability to efficiently distribute attention over multiple acoustic cues in the speech signal may have detrimental language learning consequences. Yet, no studies have examined effects of multi-talker processing in populations with atypical perceptual, social and language processing for communication, including autistic people. Employing a classic word-monitoring task, we investigated effects of talker variability in Australian English autistic (n = 24) and non-autistic (n = 28) adults. Listeners responded to target words (e.g., apple, duck, corn) in randomised sequences of words. Half of the sequences were spoken by a single talker and the other half by multiple talkers. Results revealed that autistic participants’ sensitivity scores to accurately-spotted target words did not differ to those of non-autistic participants, regardless of whether they were spoken by a single or multiple talkers. As expected, the non-autistic group showed the well-established processing cost associated with talker variability (e.g., slower response times). Remarkably, autistic listeners’ response times did not differ across single- or multi-talker conditions, indicating they did not show perceptual processing costs when accommodating talker variability. The present findings have implications for theories of autistic perception and speech and language processing.

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4. Alnahdi GH, Schwab S. Families of Children with Intellectual and Developmental Disabilities: Variables Associated with Family Quality of Life. Children (Basel). 2024; 11(6).

Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the predictors of family quality of life (FQOL) is crucial for developing effective support systems and interventions. AIM: This study investigated the predictors that might influence the perception of families having a member with a disability regarding their quality of life (FQOL). METHOD: The sample consisted of 320 family members from the Riyadh region of Saudi Arabia. RESULTS: The overall results showed that participants’ satisfaction with FQOL was at a moderate level. Further results indicated that variables associated with severity, type of disability, and the mother’s age and education were significant predictors of the FQOL. CONCLUSIONS: These results emphasize the importance of considering the variables that impact FQOL, such as the severity and type of disability, and mother’s related variables, when directing support to families with a member with a disability. The recommendations and limitations of the study were discussed.

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5. Audouard E, Khefif N, Gillet-Legrand B, Nobilleau F, Bouazizi O, Stanga S, Despres G, Alves S, Lamazière A, Cartier N, Piguet F. Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome. Pharmaceutics. 2024; 16(6).

Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by mutation in the X-linked gene methyl-CpG-binding protein 2 (Mecp2), a ubiquitously expressed transcriptional regulator. RTT results in mental retardation and developmental regression that affects approximately 1 in 10,000 females. Currently, there is no curative treatment for RTT. Thus, it is crucial to develop new therapeutic approaches for children suffering from RTT. Several studies suggested that RTT is linked with defects in cholesterol homeostasis, but for the first time, therapeutic evaluation is carried out by modulating this pathway. Moreover, AAV-based CYP46A1 overexpression, the enzyme involved in cholesterol pathway, has been demonstrated to be efficient in several neurodegenerative diseases. Based on these data, we strongly believe that CYP46A1 could be a relevant therapeutic target for RTT. Herein, we evaluated the effects of intravenous AAVPHP.eB-hCYP46A1-HA delivery in male and female Mecp2-deficient mice. The applied AAVPHP.eB-hCYP46A1 transduced essential neurons of the central nervous system (CNS). CYP46A1 overexpression alleviates behavioral alterations in both male and female Mecp2 knockout mice and extends the lifespan in Mecp2-deficient males. Several parameters related to cholesterol pathway are improved and correction of mitochondrial activity is demonstrated in treated mice, which highlighted the clear therapeutic benefit of CYP46A1 through the neuroprotection effect. IV delivery of AAVPHP.eB-CYP46A1 is perfectly well tolerated with no inflammation observed in the CNS of the treated mice. Altogether, our results strongly suggest that CYP46A1 is a relevant target and overexpression could alleviate the phenotype of Rett patients.

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6. Ben-Sasson A, Guedalia J, Ilan K, Shefer G, Cohen R, Gabis LV. Early developmental milestone clusters of autistic children based on electronic health records. Autism Res. 2024.

Autistic children vary in symptoms, co-morbidities, and response to interventions. This study aimed to identify clusters of autistic children with a distinct pattern of attaining early developmental milestones (EDMs). The clustering of 5836 autistic children was based on the attainment of 43 gross motor, fine motor, language, and social developmental milestones during the first 3 years of life as recorded in baby wellness visits. K-means cluster analysis detected four EDM clusters: mild (n = 1686); moderate (n = 1691); severe (n = 2265); and global (n = 194). The most prominent cluster differences were in the language domain. The global cluster showed earlier and greater developmental delay across domains, unique early gross motor delays, and more were born preterm via cesarean section. The severe cluster had poor language development prominently in the second year of life, and later fine motor delays. Moderate cluster had mainly language delays in the third year of life. The mild cluster mostly passed milestones. EDM clusters differed demographically, with higher socioeconomic status in mild cluster and lowest in global cluster. However, the severe cluster had more immigrant and non-Jewish mothers followed by the moderate cluster. The rates of parental concerns and provider developmental referrals were significantly higher in the global, followed by the severe, moderate, and mild EDM clusters. Autistic children’s language and motor delay in the first 3 years can be grouped by common magnitude and onset profiles as distinct groups that may link to specific etiologies (like prematurity or genetics) and specific intervention programs. Early autism screening should be tailored to these different developmental profiles.

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7. Carta A, Cavassa V, Puci MV, Averna R, Sotgiu G, Valeri G, Vicari S, Sotgiu S. Treatment of Aggressive Behavior and Agitation in an 11-Year-Old Boy with Co-Occurring Autism and ADHD: A Case Report and Literature Review on the Use of Intravenous Valproate in Emergency Psychiatry. J Clin Med. 2024; 13(12).

Background: Autism spectrum disorder (ASD) is a persistent neurodevelopmental disorder frequently co-occurring with attention-deficit/hyperactivity disorder (ADHD) and behavior-related disorders. While behavioral therapy is the first-line option to manage the core symptoms of ASD, pharmacological therapy is sometimes needed to treat acute problems, such as agitation and aggressive behaviors. Recent guidelines recommend the use of neuroleptics to reduce psychomotor agitation in patients with ASD. However, as children with ASD are often drug-resistant, alternative treatments are often justified. Reports from the literature have indicated that intravenous valproate (IV-VPA) can be effective in reducing agitation in psychiatric patients, with a lower frequency of adverse events compared to conventional treatments. However, as the related findings are occasionally inconsistent, IV-VPA is not yet an approved option in the context of clinical psychiatry. We aim to improve knowledge of the IV-VPA treatment option for emergency psychiatric treatment in pediatric patients. Methods: We report the case of an 11-year-old boy suffering from a complex neurodevelopmental condition who experienced a psychotic episode with severe aggressive and disruptive behaviors and was successfully treated with IV-VPA. Furthermore, we provide an updated literature review on this topic. Conclusion: In our case, first-line therapies proved to be ineffective. To the contrary, IV-VPA led to safe and prompt clinical success, which is in line with other reports. Based on our literature review, IV-VPA can be highly effective and reduces the risk of adverse events that frequently occur with the use of high-dose standard medications in emergency psychiatry.

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8. D’Adamo CR, Nelson JL, Miller SN, Rickert Hong M, Lambert E, Tallman Ruhm H. Reversal of Autism Symptoms among Dizygotic Twins through a Personalized Lifestyle and Environmental Modification Approach: A Case Report and Review of the Literature. J Pers Med. 2024; 14(6).

The prevalence of autism has been increasing at an alarming rate. Even accounting for the expansion of autism spectrum disorder diagnostic (ASD) criteria throughout the 1990’s, there has been an over 300% increase in ASD prevalence since the year 2000. The often debilitating personal, familial, and societal sequelae of autism are generally believed to be lifelong. However, there have been several encouraging case reports demonstrating the reversal of autism diagnoses, with a therapeutic focus on addressing the environmental and modifiable lifestyle factors believed to be largely underlying the condition. This case report describes the reversal of autism symptoms among dizygotic, female twin toddlers and provides a review of related literature describing associations between modifiable lifestyle factors, environmental exposures, and various clinical approaches to treating autism. The twins were diagnosed with Level 3 severity ASD « requiring very substantial support » at approximately 20 months of age following concerns of limited verbal and non-verbal communication, repetitive behaviors, rigidity around transitions, and extensive gastrointestinal symptoms, among other common symptoms. A parent-driven, multidisciplinary, therapeutic intervention involving a variety of licensed clinicians focusing primarily on addressing environmental and modifiable lifestyle factors was personalized to each of the twin’s symptoms, labs, and other outcome measures. Dramatic improvements were noted within several months in most domains of the twins’ symptoms, which manifested in reductions of Autism Treatment Evaluation Checklist (ATEC) scores from 76 to 32 in one of the twins and from 43 to 4 in the other twin. The improvement in symptoms and ATEC scores has remained relatively stable for six months at last assessment. While prospective studies are required, this case offers further encouraging evidence of ASD reversal through a personalized, multidisciplinary approach focusing predominantly on addressing modifiable environmental and lifestyle risk factors.

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9. D’Incal CP, Cappuyns E, Choukri K, De Man K, Szrama K, Konings A, Bastini L, Van Meel K, Buys A, Gabriele M, Rizzuti L, Vitriolo A, Testa G, Mohn F, Bühler M, Van der Aa N, Van Dijck A, Kooy RF, Berghe WV. Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients. Sci Rep. 2024; 14(1): 14710.

Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant ADNP mRNA in patient blood. In this study, wild-type and ADNP mutants are investigated at the protein level and therefore optimal detection of the protein is required. Detection of ADNP by means of western blotting has been ambiguous with reported antibodies resulting in non-specific bands without unique ADNP signal. Validation of an N-terminal ADNP antibody (Aviva Systems) using a blocking peptide competition assay allowed to differentiate between specific and non-specific signals in different sample materials, resulting in a unique band signal around 150 kDa for ADNP, above its theoretical molecular weight of 124 kDa. Detection with different C-terminal antibodies confirmed the signals at an observed molecular weight of 150 kDa. Our antibody panel was subsequently tested by immunoblotting, comparing parental and homozygous CRISPR/Cas9 endonuclease-mediated Adnp knockout cell lines and showed disappearance of the 150 kDa signal, indicative for intact ADNP. By means of both a GFPSpark and Flag-tag N-terminally fused to a human ADNP expression vector, we detected wild-type ADNP together with mutant forms after introduction of patient mutations in E. coli expression systems by site-directed mutagenesis. Furthermore, we were also able to visualize endogenous ADNP with our C-terminal antibody panel in heterozygous cell lines carrying ADNP patient mutations, while the truncated ADNP mutants could only be detected with epitope-tag-specific antibodies, suggesting that addition of an epitope-tag possibly helps stabilizing the protein. However, western blotting of patient-derived hiPSCs, immortalized lymphoblastoid cell lines and post-mortem patient brain material failed to detect a native mutant ADNP protein. In addition, an N-terminal immunoprecipitation-competent ADNP antibody enriched truncating mutants in overexpression lysates, whereas implementation of the same method failed to enrich a possible native mutant protein in immortalized patient-derived lymphoblastoid cell lines. This study aims to shape awareness for critical assessment of mutant ADNP protein analysis in Helsmoortel-Van der Aa syndrome.

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10. Dallabrida KG, de Oliveira Bender JM, Chade ES, Rodrigues N, Sampaio TB. Endocannabinoid System Changes throughout Life: Implications and Therapeutic Potential for Autism, ADHD, and Alzheimer’s Disease. Brain Sci. 2024; 14(6).

The endocannabinoid system has been linked to various physiological and pathological processes, because it plays a neuromodulator role in the central nervous system. In this sense, cannabinoids have been used off-label for neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHA), as well as in Alzheimer’s disease (AD), a more prevalent neurodegenerative disease. Thus, this study aims, through a comprehensive literature review, to arrive at a better understanding of the impact of cannabinoids in the therapeutic treatment of patients with ASD, ADHD, and Alzheimer’s disease (AD). Overall, cannabis products rich in CBD displayed a higher therapeutic potential for ASD children, while cannabis products rich in THC have been tested more for AD therapy. For ADHD, the clinical studies are incipient and inconclusive, but promising. In general, the main limitations of the clinical studies are the lack of standardization of the cannabis-based products consumed by the participants, a lack of scientific rigor, and the small number of participants.

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11. de Oliveira ZB, Silva da Costa DV, da Silva Dos Santos AC, da Silva Júnior AQ, de Lima Silva A, de Santana RCF, Costa ICG, de Sousa Ramos SF, Padilla G, da Silva SKR. Synthetic Colors in Food: A Warning for Children’s Health. Int J Environ Res Public Health. 2024; 21(6).

This study addressed the harmful effects of artificial colors in pediatric populations, including children diagnosed with Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), as well as those without behavioral disorders. There is a consensus that synthetic food colorings have several impacts on consumers, especially pediatrics, due to their influence on sensory appeal, which can encourage preference for certain foods. The results revealed that these color additives are directly linked to a series of health problems, with a greater impact on children, including a predisposition to pathological conditions such as carcinogenic, allergenic, mutagenic, cytotoxic, and clastogenic activities, as well as gastrointestinal and respiratory problems, in addition to behavioral changes in children with and without diagnosed disorders. The harms of synthetic dyes in children with or without comorbidities are worrying and require a careful and proactive approach from parents, caregivers and public authorities.

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12. De Sales-Millán A, Reyes-Ferreira P, Aguirre-Garrido JF, Corral-Guillé I, Barrientos-Ríos R, Velázquez-Aragón JA. Comprehensive Analysis of Gut Microbiota Composition and Functional Metabolism in Children with Autism Spectrum Disorder and Neurotypical Children: Implications for Sex-Based Differences and Metabolic Dysregulation. Int J Mol Sci. 2024; 25(12).

This study aimed to investigate the gut microbiota composition in children with autism spectrum disorder (ASD) compared to neurotypical (NT) children, with a focus on identifying potential differences in gut bacteria between these groups. The microbiota was analyzed through the massive sequencing of region V3-V4 of the 16S RNA gene, utilizing DNA extracted from stool samples of participants. Our findings revealed no significant differences in the dominant bacterial phyla (Firmicutes, Bacteroidota, Actinobacteria, Proteobacteria, Verrucomicrobiota) between the ASD and NT groups. However, at the genus level, notable disparities were observed in the abundance of Blautia, Prevotella, Clostridium XI, and Clostridium XVIII, all of which have been previously associated with ASD. Furthermore, a sex-based analysis unveiled additional discrepancies in gut microbiota composition. Specifically, three genera (Megamonas, Oscilibacter, Acidaminococcus) exhibited variations between male and female groups in both ASD and NT cohorts. Particularly noteworthy was the exclusive presence of Megamonas in females with ASD. Analysis of predicted metabolic pathways suggested an enrichment of pathways related to amine and polyamine degradation, as well as amino acid degradation in the ASD group. Conversely, pathways implicated in carbohydrate biosynthesis, degradation, and fermentation were found to be underrepresented. Despite the limitations of our study, including a relatively small sample size (30 ASD and 31 NT children) and the utilization of predicted metabolic pathways derived from 16S RNA gene analysis rather than metagenome sequencing, our findings contribute to the growing body of evidence suggesting a potential association between gut microbiota composition and ASD. Future research endeavors should focus on validating these findings with larger sample sizes and exploring the functional significance of these microbial differences in ASD. Additionally, there is a critical need for further investigations to elucidate sex differences in gut microbiota composition and their potential implications for ASD pathology and treatment.

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13. El-Ansary A, Alfawaz HA, Bacha AB, Al-Ayadhi LY. Combining Anti-Mitochondrial Antibodies, Anti-Histone, and PLA2/COX Biomarkers to Increase Their Diagnostic Accuracy for Autism Spectrum Disorders. Brain Sci. 2024; 14(6).

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and restricted and repetitive behaviors. Oxidative stress may be a critical link between mitochondrial dysfunction and ASD as reactive oxygen species (ROS) generated from pro-oxidant environmental toxicants and activated immune cells can result in mitochondrial failure. Recently, mitochondrial dysfunction, autoimmunity, and abnormal lipid mediators have been identified in multiple investigations as an acknowledged etiological mechanism of ASD that can be targeted for therapeutic intervention. METHODS: The relationship between lipid mediator markers linked to inflammation induction, such as phospholipase A2/cyclooxygenase-2 (PLA2/Cox-2), and the mitochondrial dysfunction marker anti-mitochondrial antibodies (AMA-M2), and anti-histone autoantibodies in the etiology of ASD was investigated in this study using combined receiver operating characteristic (ROC) curve analyses. This study also sought to identify the linear combination for a given set of markers that optimizes the partial area under ROC curves. This study included 40 age- and sex-matched controls and 40 ASD youngsters. The plasma of both groups was tested for PLA2/COX-2, AMA-M2, and anti-histone autoantibodies’ levels using ELISA kits. ROC curves and logistic regression models were used in the statistical analysis. RESULTS: Using the integrated ROC curve analysis, a notable rise in the area under the curve was noticed. Additionally, the combined markers had markedly improved specificity and sensitivity. CONCLUSIONS: The current study suggested that measuring the predictive value of selected biomarkers related to mitochondrial dysfunction, autoimmunity, and lipid metabolism in children with ASD using a ROC curve analysis could lead to a better understanding of the etiological mechanism of ASD as well as its relationship with metabolism.

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14. Fang C, Sun Y, Fan C, Lei D. The relationship of immune cells with autism spectrum disorder: a bidirectional Mendelian randomization study. BMC Psychiatry. 2024; 24(1): 477.

BACKGROUND: Observational studies have indicated a correlation between immunological inflammation and the risk of autism spectrum disorder (ASD). However, the causal relationship between immunological inflammation and ASD remains uncertain. METHODS: Immunity-wide data sources were retrieved from the GWAS catalog. Genetic summary data on ASD were retrieved from two independent GWAS. We performed two independent bi-directional, two-sample Mendelian randomization (MR) analyses and a meta-analysis based on the two independent MR estimates to assess the causal relationship between ASD and immune cell signatures. RESULTS: We have discovered 26 potential correlations between genetic predisposition in the immunophenotypes and ASD. The meta-analysis of the two inverse variance weighted (IVW)-produced estimates provided further evidence supporting the potential causal relationship between immunophenotypes and ASD. Based on the findings of the reverse MR analysis, it was determined that there are two potential negative causal relationships between ASD and immunophenotypes. However, the meta-analysis of the two IVW-derived MR estimates indicated that immunophenotypes were not significantly influenced by ASD (OR = 0.87, 95% CI = 0.73 -1.03, P = 0.09; OR = 0.91, 95% CI = 0.81-1.01, P = 0.08). CONCLUSIONS: This study expanded immune cell subtypes that were potentially causally associated with ASD risk as well as identified ASD-specific immune cell subtypes. The discovery has the potential to lead to earlier detection and more effective treatment techniques.

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15. Ferrer R, Ali K, Hughes C. Using AI-Based Virtual Companions to Assist Adolescents with Autism in Recognizing and Addressing Cyberbullying. Sensors (Basel). 2024; 24(12).

Social media platforms and online gaming sites play a pervasive role in facilitating peer interaction and social development for adolescents, but they also pose potential threats to health and safety. It is crucial to tackle cyberbullying issues within these platforms to ensure the healthy social development of adolescents. Cyberbullying has been linked to adverse mental health outcomes among adolescents, including anxiety, depression, academic underperformance, and an increased risk of suicide. While cyberbullying is a concern for all adolescents, those with disabilities are particularly susceptible and face a higher risk of being targets of cyberbullying. Our research addresses these challenges by introducing a personalized online virtual companion guided by artificial intelligence (AI). The web-based virtual companion’s interactions aim to assist adolescents in detecting cyberbullying. More specifically, an adolescent with ASD watches a cyberbullying scenario in a virtual environment, and the AI virtual companion then asks the adolescent if he/she detected cyberbullying. To inform the virtual companion in real time to know if the adolescent has learned about detecting cyberbullying, we have implemented fast and lightweight cyberbullying detection models employing the T5-small and MobileBERT networks. Our experimental results show that we obtain comparable results to the state-of-the-art methods despite having a compact architecture.

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16. Hauw JJ, Hausser-Hauw C, Barthélémy C. Synapse and primary cilia dysfunctions in Autism Spectrum Disorders. Avenues to normalize these functions. Rev Neurol (Paris). 2024.

AIM: An update on the plasticity of the brain networks involved in autism (autism spectrum disorders [ASD]), and the increasing role of their synapses and primary non-motile cilia. METHODS: Data from PubMed and Google on this subject, published until February 2024, were analyzed. RESULTS: Structural and functional brain characteristics and genetic particularities involving synapses and cilia that modify neuronal circuits are observed in ASD, such as reduced pruning of dendrites, minicolumnar pathology, or persistence of connections usually doomed to disappear. Proteins involved in synapse functions (such as neuroligins and neurexins), in the postsynaptic architectural scaffolding (such as Shank proteins) or in cilia functions (such as IFT-independent kinesins) are often abnormal. There is an increase in glutaminergic transmission and a decrease in GABA inhibition. ASD may occur in genetic ciliopathies. The means of modulating these specificities, when deemed useful, are described. INTERPRETATION: The wide range of clinical manifestations of ASD is strongly associated with abnormalities in the morphology, functions, and plasticity of brain networks, involving their synapses and non-motile cilia. Their modulation offers important research perspectives on treatments when needed, especially since brain plasticity persists much later than previously thought. Improved early detection of ASD and additional studies on synapses and primary cilia are needed.

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17. Huang Z, Wang F, Xue L, Zhu H, Zou X. Relationships between Sensory Processing and Executive Functions in Children with Combined ASD and ADHD Compared to Typically Developing and Single Disorder Groups. Brain Sci. 2024; 14(6).

The prevalence of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) is increasing, with a tendency for co-occurrence. Some studies indicate a connection between atypical sensory processing and executive function. This study aims to explore the distinctive etiology of executive function deficits in children with ASD+ADHD by investigating the relationship between sensory processing and executive function, comparing children with ASD, ASD+ADHD, ADHD, and typically developing children (TD). METHOD: Sensory Profile 2 (SP-2) and Behavior Rating Inventory of Executive Function 2 (BRIEF-2) were measured in 120 school-aged children. The results of the above scales were compared across these four groups, and correlation and regression analyses between BRIEF2 and SP2 were conducted. RESULTS: Our research revealed varying levels of atypical sensory processing and executive function anomalies across the three neurodevelopmental disorder groups compared to the TD group. The ASD+ADHD group showed particularly significant differences. The heightened emotional problems observed in ASD+ADHD children may be associated with more prominent atypical sensory processing. Variance analysis of inhibitory function revealed differences between ASD+ADHD and ADHD children, suggesting distinct etiological mechanisms for attention issues between ASD+ADHD and ADHD. CONCLUSIONS: ASD+ADHD represents a phenotype distinct from both ASD and ADHD. Special consideration should be given to interventions for children with ASD+ADHD. The results of this study may offer a new perspective on understanding the occurrence of ASD+ADHD and potential individualized intervention methods.

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18. Ilic N, Maric N, Maver A, Armengol L, Kravljanac R, Cirkovic J, Krstic J, Radivojevic D, Cirkovic S, Ostojic S, Krasic S, Paripovic A, Vukomanovic V, Peterlin B, Maric G, Sarajlija A. Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?. Genes (Basel). 2024; 15(6).

This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics.

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19. Kazemian SV, Farkhani EM, Jarahi L. Prevalence and determinants of suspected developmental delays among 12-month-old children in northeast of Iran: a large-scale population-based study. BMJ Paediatr Open. 2024; 8(1).

BACKGROUND: Early identification of suspected developmental delays (SDDs) is crucial for planning early interventions. This study aimed to determine the prevalence of SDDs and the associated determinants in children aged 12 months in the northeast of Iran, using the Age and Stage Questionnaire-3 (ASQ-3) as the evaluative tool. METHODS: This study conducted an analytical cross-sectional design to investigate all children who had completed the ASQ-3 screening form at 12 months of age within the time frame of 2016-2023 in the northeast of Iran. The necessary data were extracted from the electronic health record database associated with Mashhad University of Medical Sciences. To examine the factors associated with SDDs within each domain of the ASQ-3, a multiple logistic regression model was employed, and the results were presented using ORs along with 95% CIs. RESULTS: Over 7 years, 236 476 children (96.74%) underwent routine ASQ-3 screening at 12 months. After excluding certain cases, 226 076 children (95.60%) were included. Among them, 51 593 children (22.82%) had a score below -1 SD, indicating SDD prevalence in at least one domain. The social-personal domain had the highest prevalence with 22 980 children (10.16%), while the gross motor domain had the lowest with 5650 children (2.50%). Logistic regression analysis identified strong predictors of SDDs, including hospitalisation at birth (OR=1.85, 95% CI:1.69 to 2.02), prematurity (OR=1.56, 95% CI: 1.37 to 1.79), urbanisation (OR=1.51, 95% CI: 1.45 to 1.57), boys (OR=1.36, 95% CI: 1.31 to 1.40) and lack of exclusive breast feeding until 6 months (OR=1.30, 95% CI: 1.25 to 1.34). CONCLUSION: The prevalence of SDDs highlights the urgency for prompt action, while considering contributing factors. Policymakers can address modifiable risk factors associated with SDDs, including urbanisation risks, support programmes for immigrant families and the importance of exclusive breast feeding until 6 months. Additionally, it is recommended establishing gender-specific local standard cut-off points for the ASQ.

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20. Kucińska A, Hawuła W, Rutkowska L, Wysocka U, Kępczyński Ł, Piotrowicz M, Chilarska T, Wieczorek-Cichecka N, Połatyńska K, Przysło Ł, Gach A. Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. Brain Sci. 2024, 14, 273. Brain Sci. 2024; 14(6).

In the original publication […].

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21. Lai YYL, Downs J, Leishman S, Leonard HM, Walsh LJ, Zafar S. qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome. Eur Arch Paediatr Dent. 2024.

PURPOSE: This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. METHODS: Supragingival dental plaque samples were collected, using a sterile swab, (COPAN FLOQswab™) swabbed onto Whatman FTA™ cards. DNA extraction was performed using a modified Powersoil™ protocol. Where published assays were unsuitable, species-specific qPCR assays for caries-associated, gingivitis-associated and oral-health-associated bacteria were designed using multiple sequence alignment, Primer3Plus and PrimerQuest. Assays were run using absolute quantification. Limit of detection (LOD) and limit of quantification (LOQ) were calculated, and PCR products verified by Sanger sequencing. RESULTS: Most assays allowed detection using real-time qPCR with high specificity on samples collected on FTA cards. Several assays showed low or even single gene copy numbers on the test samples. CONCLUSION: Assays were optimised for detection and evaluation of oral health risk in dental plaque samples stored on FTA cards when cold storage is not feasible, except for F. nucleatum. Several assays showed gene copy numbers less than the LOQ or outside the range of the standard curve, so there is merit in optimising these assays using digital droplet PCR.

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22. Lebeña A, Faresjö Å, Jones MP, Bengtsson F, Faresjö T, Ludvigsson J. Early environmental predictors for attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and their co-occurrence: The prospective ABIS-Study. Sci Rep. 2024; 14(1): 14759.

ADHD and ASD are highly heritable and show a high co-occurrence and persistence into adulthood. This study aimed to identify pre and perinatal risk factors, and early psychosocial exposures related to later diagnosis of ADHD, ASD, and their co-occurrence. 16,365 children born 1997-1999 and their families, involved in the prospective population-based ABIS study (All Babies in Southeast Sweden), were included in this sub-study. Pre and perinatal factors and early environmental psychosocial exposures were collected from parental-questionnaires at birth and 1-year follow-up. Diagnoses from birth up to 23 years of age were obtained from the Swedish National Diagnosis Register in 2020. The cumulative incidence of ADHD, ASD, and their co-occurrence in the ABIS-cohort Study were 4.6%, 1.7%, and 1.1%, respectively. Being male was associated with an increased risk for ADHD, ASD, and their co-occurrence (aOR 1.30, 1.56, and 1.91, respectively), while higher household income reduced it (aOR 0.82, 0.73, and 0.64). Serious life events during pregnancy (aOR 1.40) and maternal smoking (aOR 1.51) increased the risk of ADHD, while older maternal age (aOR 0.96), higher parental education (aOR 0.72 maternal and aOR 0.74 paternal) and longer exclusive breastfeeding (aOR 0.72) reduced it. Non-Swedish paternal nationality (aOR 0.40) and higher maternal education (aOR 0.74) were associated with a lower risk of ASD, while a family history of autoimmune diseases increased the risk of the co-occurrence of both disorders (aOR 1.62). Obtained results suggest that the etiology of ADHD, ASD, and their co-occurrence is independently associated with environmental psychosocial predictors. The co-occurrence seems to overlap the etiology of ADHD, in which psychosocial determinants have a larger role, however, it is also independently influenced by a family history of autoimmune diseases.

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23. Lederbogen RC, Hoffjan S, Thiels C, Mau-Holzmann UA, Singer S, Yusenko MV, Nguyen HHP, Gerding WM. Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation. Genes (Basel). 2024; 15(6).

While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this study, we present the case of a boy exhibiting developmental delay and mild intellectual disability. Initial karyotyping revealed a translocation t(5;6)(q13;q23) between chromosomes 5 and 6 with limited resolution. Optical genome mapping (OGM) enabled a more precise depiction of the breakpoint regions involved in the reciprocal translocation. While the breakpoint region on chromosome 6 did not encompass any known gene, OGM revealed the disruption of the RASGRF2 (Ras protein-specific guanine nucleotide releasing factor 2) gene on chromosome 5, implicating RASGRF2 as a potential candidate gene contributing to the observed developmental delay in the patient. Variations in RASGRF2 have so far not been reported in developmental delay, but research on the RASGRF2 gene underscores its significance in various aspects of neurodevelopment, including synaptic plasticity, signaling pathways, and behavioral responses. This study highlights the utility of OGM in identifying breakpoint regions, providing possible insights into the understanding of neurodevelopmental disorders. It also helps affected individuals in gaining more knowledge about potential causes of their conditions.

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24. Liu YC, Liao YT, Wen MH, Chen VC, Chen YL. The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities. J Pers Med. 2024; 14(6).

Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two medical conditions and effect modification by sex and neuropsychiatric comorbidities in a nationwide population. To compare the risk of precocious puberty between ASD and non-ASD cases, we conducted a Cox regression analysis using ASD as the exposure and time to precocious puberty as the outcome. We adjusted for sex, attention-deficit/hyperactivity disorder (ADHD), tic disorder, obsessive-compulsive disorder (OCD), anxiety disorder, intellectual disability, and epilepsy. We performed a moderation analysis to examine the potential moderating effects of sex and comorbidities. Patients with ASD were prone to have precocious puberty, with an adjusted hazard ratio (aHR) of 1.80 (95% CI: 1.61-2.01). For effect modification, sex, specifically females, moderated the association between ASD and precocious puberty, with a relative excess risk due to interaction (RERI) of 7.35 (95% CI 4.90-9.80). No significant effect modification was found for any of the comorbidities within the scope of additive effect modification. We found that patients with ASD were prone to precocious puberty, regardless of sex or comorbid neuropsychiatric disorders. Girls with ASD are at a particularly higher risk of developing precocious puberty.

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25. Lloyd M, Temple VA, Foley JT, Yeatman S, Lunsky Y, Huang A, Balogh R. Participation in Special Olympics reduces the rate for developing diabetes in adults with intellectual and developmental disabilities. Diabet Med. 2024: e15393.

AIM: Adults with intellectual and developmental disabilities (IDD) have a significantly higher prevalence of Type 2 diabetes than the general population. Evidence that lifestyle and/or behavioural interventions, such as participation in Special Olympics, decreases the risk of developing diabetes in adults with IDD could help minimize health disparities and promote overall health in this population. METHODS: This was a 20-year retrospective cohort study of adults with IDD (30-39 years) in the province of Ontario, Canada, that compared hazard rates of diabetes among Special Olympics participants (n = 4145) to non-participants (n = 31,009) using administrative health databases housed at ICES. Using cox proportional hazard models, crude and adjusted hazard ratios were calculated for the association between the primary independent variable (Special Olympics participation status) and the dependent variable (incident diabetes cases). RESULTS: After controlling for other variables, the hazard ratio comparing rates for developing diabetes between Special Olympics participants and non-participants was 0.85. This represents a 15% reduction in the hazard among Special Olympics participants when followed for up to 20 years. This result was statistically significant and represents a small effect size. CONCLUSIONS: Special Olympics could be considered a complex intervention that promotes physical activity engagement through sport participation, health screenings, and the promotion of healthy eating habits through educational initiatives. This study provides evidence that Special Olympics participation decreases the rate for developing diabetes.

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26. Lotan M. Barking Up the Wrong Tree-Motor-Sensory Elements as Prodrome in Autism. Biomedicines. 2024; 12(6).

Autism spectrum disorder (ASD) has been intensely investigated since the term was first used over 80 years ago. The prevalence of ASD is constantly rising, and, currently, 1:36 children are diagnosed with this disorder. Despite the intense interest in ASD, the origins of this disorder remain obscure. This article explores motor issues and proprioceptive interoception difficulties as the prodrome of ASD. The importance of early intervention in the prognosis of ASD is common knowledge. Yet, since the communicational and social behaviors typical of ASD are observable only after the age of 18 months, diagnosis and early intervention are delayed. Therefore, the quest into the involvement of sensory-motor difficulties as a source of ASD traits, or at least as a potential early indicator, is warranted, with the intention of enabling early diagnosis and early intervention. This article examines the justification for this new avenue of early diagnosis and intervention and may open up a completely different way of viewing ASD. This new point of view may suggest an original path of assessment and intervention in infancy with this group of clients, possibly leading to improved prognosis for children and their families.

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27. Lozano I, Belinchón M, Campos R. Sensitivity to temporal synchrony and selective attention in audiovisual speech in infants at elevated likelihood for autism: A preliminary longitudinal study. Infant Behav Dev. 2024; 76: 101973.

Autism Spectrum Disorder is a highly heritable condition characterized by sociocommunicative difficulties, frequently entailing language atypicalities that extend to infants with a familial history of autism. The developmental mechanisms underlying these difficulties remain unknown. Detecting temporal synchrony between the lip movements and the auditory speech of a talking face and selectively attending to the mouth support typical early language acquisition. This preliminary eye-tracking study investigated whether these two fundamental mechanisms atypically function in infant siblings. We longitudinally tracked the trajectories of infants at elevated and low-likelihood for autism in these two abilities at 4, 8, and 12 months (n = 29). We presented two talking faces (synchronous and asynchronous) while recording infants’ gaze to the talker’s eyes and mouth. We found that infants detected temporal asynchronies in talking faces at 12 months regardless of group. However, compared to their typically developing peers, infants with an elevated likelihood of autism showed reduced attention to the mouth at the end of the first year and no variations in their interest to this area across time. Our findings provide preliminary evidence on a potentially atypical trajectory of reduced mouth-looking in audiovisual speech during the first year in infant siblings, with potential cascading consequences for language development, thus contributing to domain-general accounts of emerging autism.

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28. Martínez-Vérez V, Gil-Ruíz P, Domínguez-Lloria S. Interventions through Art Therapy and Music Therapy in Autism Spectrum Disorder, ADHD, Language Disorders, and Learning Disabilities in Pediatric-Aged Children: A Systematic Review. Children (Basel). 2024; 11(6).

Traditional pharmacological treatments, although effective, often carry potential side effects, which positions art therapy and music therapy as promising non-pharmacological alternatives to alleviate symptoms and improve social, cognitive, and emotional skills without the associated risks. Through a review in the SCOPUS and WOS databases following the PRISMA protocol, a total of 80 articles were analyzed through a series of determined categories and subcategories of analysis. The aim of this study is to evaluate and synthesize the existing evidence on the efficacy and applicability of art therapy and music therapy in the treatment of children with autism spectrum disorder (ASD), hyperactivity disorder (HSDD), developmental language disorders, and language learning difficulties, identifying best practices and key areas for future research. Among the main findings is that art therapy and music therapy have a significant impact on symptomatology, behavior, and communication as well as social, cognitive, and emotional skills in the pediatric populations studied. These therapies are highly valued by the participants with a large majority recognizing their adaptability to different educational and clinical contexts. It is concluded that these therapies have a high potential as viable alternatives or complements to traditional pharmacological treatments, justifying their application and further study in broader therapeutic contexts.

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29. Mazza JAS, Ferreira LS, Martins-Vieira AF, Beserra DDL, Rodrigues VA, Malcher-Lopes R, Caixeta FV. Clinical and Family Implications of Cannabidiol (CBD)-Dominant Full-Spectrum Phytocannabinoid Extract in Children and Adolescents with Moderate to Severe Non-Syndromic Autism Spectrum Disorder (ASD): An Observational Study on Neurobehavioral Management. Pharmaceuticals (Basel). 2024; 17(6).

Autism Spectrum Disorder (ASD) encompasses a wide range of neurodevelopmental conditions characterized by deficits in social interaction, communication and behavior. Current pharmacological options are limited and feature significant side effects. In this study, we conducted a retrospective, observational, and cross-sectional cohort study to evaluate the effects of Cannabidiol (CBD)-dominant, full-spectrum cannabis extract, containing Tetrahydrocannabinol (THC) in a ratio of 33:1 (CBD:THC), on non-syndromic children and adolescents (5-18 years old) with moderate to severe ASD. Thirty volunteers were recruited, underwent neuropsychological evaluations and were treated with individualized doses of CBD-dominant extract. Clinical assessments were conducted by the designated clinician. Additionally, parents or caregivers were independently interviewed to assess perceived treatment effects. We found significant improvements in various symptomatic and non-symptomatic aspects of ASD, with minimal untoward effects, as reported by both clinical assessments and parental perceptions. The observed improvements included increased communicative skills, attention, learning, eye contact, diminished aggression and irritability, and an overall increase in both the patient’s and family’s quality of life. Despite its limitations, our findings suggest that treatment with full-spectrum CBD-dominant extract may be a safe and effective option for core and comorbid symptoms of ASD, and it may also increase overall quality of life for individuals with ASD and their families.

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30. Mbachu CNP, Mbachu, II, Hagerman R. A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa. Genes (Basel). 2024; 15(6).

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems. Fragile X premutation-associated conditions (FXPAC), caused by a smaller CGG expansion (55 to 200 CGG repeats) in the FMR1 gene, are linked to other conditions that increase morbidity and mortality for affected persons. Limited research has been conducted on the burden, characteristics, diagnosis, and management of these conditions in Africa. This comprehensive review provides an overview of the current literature on FXS and FXPAC in Africa. The issues addressed include epidemiology, clinical features, discrimination against affected persons, limited awareness and research, and poor access to resources, including genetic services and treatment programs. This paper provides an in-depth analysis of the existing worldwide data for the diagnosis and treatment of fragile X disorders. This review will improve the understanding of FXS and FXPAC in Africa by incorporating existing knowledge, identifying research gaps, and potential topics for future research to enhance the well-being of individuals and families affected by FXS and FXPAC.

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31. McConkey R. Creating Family-Centred Support for Preschoolers with Developmental Disabilities in Low-Income Countries: A Rapid Review to Guide Practitioners. Int J Environ Res Public Health. 2024; 21(6).

Preschoolers with disabilities and their caregivers have been neglected in health and social service provision in most low-income countries and arguably also in low-resourced areas of more affluent nations. Yet as this rapid review of the published literature identifies, there are low-cost, evidence-based strategies to address their needs that can be implemented in communities by local people. Five key features of the necessary supports are examined. First, the leadership functions required to create and implement the support services. Second, the family-centred, home-based support provided to caregivers and the personnel undertaking this form of support. Third, providing opportunities for peer support to flourish and encouraging the formation of advocacy groups across families. Fourth, mobilizing the support of significant groups within the community: notably, traditional healers and leaders, health services and poverty alleviation initiatives. Fifth, devising ways in which preschool educational opportunities can be offered to children as a prelude to their inclusion in primary schools. The review serves a further purpose. It provides an example of how public health researchers and academics could achieve more rapid implementation of evidence-based knowledge into existing and new support services through dissemination to community practitioners.

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32. Mittal P, Bhadania M, Tondak N, Ajmera P, Yadav S, Kukreti A, Kalra S, Ajmera P. Effect of immersive virtual reality-based training on cognitive, social, and emotional skills in children and adolescents with autism spectrum disorder: A meta-analysis of randomized controlled trials. Res Dev Disabil. 2024; 151: 104771.

BACKGROUND: Virtual Reality (VR) based diagnostic and therapeutic interventions have opened up new possibilities for addressing the challenges in identifying and treating individuals with Autism Spectrum Disorders (ASD). AIM: To conduct a systematic review and meta-analysis of Randomized Controlled Trials to investigate the impact of Immersive VR techniques on the cognitive, social, and emotional skills of under-18 children and adolescents with ASD. METHODS AND PROCEDURES: Four databases were systematically searched as per « Preferred Reporting Items for Systematic Reviews and Meta-analyses » guidelines and assessed six RCTs for further analysis. The Cochrane Risk of Bias tool was used to assess the methodological quality of the studies. OUTCOMES: Pooled results favoured VR and reported significant differences between experimental and control groups concerning social skills (SMD:1.43; 95 % CI: 0.01-2.84; P: 0.05), emotional skills (SMD: 2.45; 95 % CI: 0.21-4.18; P: 0.03) and cognitive skills. CONCLUSION: VR offers an array of benefits that make it a promising tool for children and adolescents with ASD to improve their cognitive, social and emotional skills in a safe and supportive setting. However, accessibility, affordability, customization, and cost are also significant aspects to consider when developing and implementing VR-based interventions for ASD.

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33. Nguyen NT, Ragamin A, Rietman AB, Nijsten TEC, Schappin R. Shared symptomatology between atopic dermatitis, ADHD and autism spectrum disorder: a protocol for a systematic scoping review. BMJ Open. 2024; 14(6): e081280.

INTRODUCTION: Children with atopic dermatitis (AD) are more at risk for the neurodevelopmental disorders attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) with parallel increases in global prevalences. Children afflicted with these conditions appear to share similar problems in sensory modulation but investigational studies on the underlying aetiology are scarce. This scoping review aims to find knowledge gaps, collate hypotheses and to summarise available evidence on the shared pathophysiology of AD, ADHD and ASD in children. METHODS AND ANALYSIS: Our study will follow the methodological manual published by the Joanna Briggs Methodology for Scoping Reviews and will be reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews. The following electronic databases will be searched for studies focused on children with AD and symptoms of ADHD and/or ASD: Medline ALL via Ovid, Embase, Web of Science Core Collection and the Cochrane Central Register of Controlled Trials via Wiley. ETHICS AND DISSEMINATION: This review does not require ethics approval as it will not be conducted with human participants. We will only use published data. Our dissemination strategy includes peer review publication and conference reports.

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34. Nicosia N, Giovenzana M, Misztak P, Mingardi J, Musazzi L. Glutamate-Mediated Excitotoxicity in the Pathogenesis and Treatment of Neurodevelopmental and Adult Mental Disorders. Int J Mol Sci. 2024; 25(12).

Glutamate is the main excitatory neurotransmitter in the brain wherein it controls cognitive functional domains and mood. Indeed, brain areas involved in memory formation and consolidation as well as in fear and emotional processing, such as the hippocampus, prefrontal cortex, and amygdala, are predominantly glutamatergic. To ensure the physiological activity of the brain, glutamatergic transmission is finely tuned at synaptic sites. Disruption of the mechanisms responsible for glutamate homeostasis may result in the accumulation of excessive glutamate levels, which in turn leads to increased calcium levels, mitochondrial abnormalities, oxidative stress, and eventually cell atrophy and death. This condition is known as glutamate-induced excitotoxicity and is considered as a pathogenic mechanism in several diseases of the central nervous system, including neurodevelopmental, substance abuse, and psychiatric disorders. On the other hand, these disorders share neuroplasticity impairments in glutamatergic brain areas, which are accompanied by structural remodeling of glutamatergic neurons. In the current narrative review, we will summarize the role of glutamate-induced excitotoxicity in both the pathophysiology and therapeutic interventions of neurodevelopmental and adult mental diseases with a focus on autism spectrum disorders, substance abuse, and psychiatric disorders. Indeed, glutamatergic drugs are under preclinical and clinical development for the treatment of different mental diseases that share glutamatergic neuroplasticity dysfunctions. Although clinical evidence is still limited and more studies are required, the regulation of glutamate homeostasis is attracting attention as a potential crucial target for the control of brain diseases.

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35. Papadopoulos A, Prentza A, Voniati L, Tafiadis D, Trimmis N, Plotas P. Assessing the Impact of Bilingualism on the Linguistic Skills of Children with Autism Spectrum Disorder (ASD) in Greece: A Scoping Review. Medicina (Kaunas). 2024; 60(6).

(1) Background and Objectives: This review aims to identify the latest literature on the possible effect of bilingualism on the linguistic skills of children with autism spectrum disorder (ASD) residing in Greece. (2) Materials and Methods: The literature was searched in the databases of Scopus and PubMed by selecting articles and by reviewing four studies published in peer-reviewed journals. This Scoping Review is based on the standards of PRISMA recommendations for scoping reviews, while the PCC framework was used as a guide to construct clear and meaningful objectives and eligibility criteria. (3) Results: The publications included in the review addressed a variety of language-related skills, including morphology, the syntax-pragmatics interface, narrative ability, as well as both receptive and expressive language skills. (4) Conclusions: Three out of four studies provide evidence that bilingual ASD children are not disadvantaged compared to monolingual peers but rather enjoy some benefits, to a certain extent, due to bilingualism. However, the number of the reviewed studies as well as the limitations of the studies themselves render this conclusion tentative. Additionally, the findings set guidelines that speech therapists, educators, psychologists, and doctors in the Greek context need to follow when treating or educating bilingual children with ASD.

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36. Riquelme I, Hatem SM, Sabater-Gárriz Á, Martín-Jiménez E, Montoya P. Proprioception, Emotion and Social Responsiveness in Children with Developmental Disorders: An Exploratory Study in Autism Spectrum Disorder, Cerebral Palsy and Different Neurodevelopmental Situations. Children (Basel). 2024; 11(6).

Proprioception has long been linked with emotional dysregulation in neurotypical adults. Neuropediatric disorders such as autism spectrum disorder (ASD) and cerebral palsy (CP) are distinct entities and yet both present with deficits and challenges in sensory processing and the regulation of emotions. This study aimed to explore the relationship between proprioception and emotional-social performance in children and to compare proprioception and emotional-social performance in different underlying neurodevelopmental conditions. For this purpose, this cross-sectional study included 42 children with ASD, 34 children with CP and 50 typically developing peers. Proprioceptive acuity, proprioceptive reactive behavior as well as emotion regulation and social responsiveness were assessed. The results show a significant correlation between proprioceptive deficits and emotional difficulties in this pediatric sample, with distinct proprioceptive impairment patterns according to the underlying neurological disorder. Children with CP showed significant emotional knowledge deficits, while children with ASD predominantly showed challenges in social responsiveness. These data thus suggest a differentiated impact of proprioception on emotional-social performance in neurodevelopmental disorders and highlight proprioception as a potential therapeutic target for balancing emotion regulation in children with neurodevelopmental conditions.

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37. Salmerón AM, Pérez-Fernández C, Abreu AC, Fernández S, Tristán AI, Ruiz-Sobremazas D, Cabré M, Guardia-Escote L, Fernández I, Sánchez-Santed F. Exploring microbiota-gut-brain axis biomarkers linked to autism spectrum disorder in prenatally chlorpyrifos-exposed Fmr1 knock-out and wild-type male rats. Toxicology. 2024; 506: 153871.

Fmr1 (fragile X messenger ribonucleoprotein 1)-knockout (KO) rats, modeling the human Fragile X Syndrome (FXS), are of particular interest for exploring the ASD-like phenotype in preclinical studies. Gestational exposure to chlorpyrifos (CPF) has been associated with ASD diagnosis in humans and ASD-like behaviors in rodents and linked to the microbiota-gut-brain axis. In this study, we have used both Fmr1-KO and wild-type male rats (F2 generation) at postnatal days (PND) 7 and 40 obtained after F1 pregnant females were randomly exposed to 1 mg/kg/mL/day of CPF or vehicle. A nuclear magnetic resonance (NMR) metabolomics approach together with gene expression profiles of these F2 generation rats were employed to analyze different brain regions (such as prefrontal cortex, hippocampus, and cerebellum), whole large intestine (at PND7) and gut content (PND40). The statistical comparison of each matrix spectral profile unveiled tissue-specific metabolic fingerprints. Significant variations in some biomarker levels were detected among brain tissues of different genotypes, including taurine, myo-inositol, and 3-hydroxybutyric acid, and exposure to CPF induced distinct metabolic alterations, particularly in serine and myo-inositol. Additionally, this study provides a set of metabolites associated with gastrointestinal dysfunction in ASD, encompassing several amino acids, choline-derived compounds, bile acids, and sterol molecules. In terms of gene expression, genotype and gestational exposure to CPF had only minimal effects on decarboxylase 2 (gad2) and cholinergic receptor muscarinic 2 (chrm2) genes.

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38. Santoro G, Incoronato M, Spagnoli E, Gabbiato I, Contini S, Piovan M, Ferrari M, Lapucci C, Zuccarello D. An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?. Genes (Basel). 2024; 15(6).

To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis revealed that the deletion in this chromosomal region shares a common smallest region of overlap (SRO) of 80 kb, which contains only the WAC gene (WW-domain-containing adaptor with coiled coil). In this clinical case report, we report a 5-year-old girl, born from non-consanguineous parents, with a 10p11.22p11.21 microdeletion. She presents clinical features that overlap with other patients described in the literature, such as dysmorphic traits, speech delay, and behavioural abnormalities (hyperactivity), even though the WAC gene is not involved in the microdeletion. Our results are the first to highlight that the deletion described here represents a contiguous gene syndrome that is enough to explain the distinct phenotype but partially overlaps with the previous cases reported in the literature, even though the same genes are not involved. In particular, in this study, we speculate about the role of the WAC gene that seems to be associated with normal motor development. In fact, we found that our patient is the only one described in the literature with a large deletion in the 10p11.22p11.21 region without the involvement of the WAC gene deletion, and, interestingly, the patient did not have motor delay.

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39. Stojkovic M, Petrovic M, Capovilla M, Milojevic S, Makevic V, Budimirovic DB, Corscadden L, He S, Protic D. Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome. Biology (Basel). 2024; 13(6).

Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. Individuals with FXS experience various challenges related to social interaction (SI). Animal models, such as the Drosophila melanogaster model for FXS where the only ortholog of human FMR1 (dFMR1) is mutated, have played a crucial role in the understanding of FXS. The aim of this study was to investigate SI in the dFMR1(B55) mutants (the groups of flies of both sexes simultaneously) using the novel Drosophila Shallow Chamber and a Python data processing pipeline based on social network analysis (SNA). In comparison with wild-type flies (w(1118)), SNA analysis in dFMR1(B55) mutants revealed hypoactivity, fewer connections in their networks, longer interaction duration, a lower ability to transmit information efficiently, fewer alternative pathways for information transmission, a higher variability in the number of interactions they achieved, and flies tended to stay near the boundaries of the testing chamber. These observed alterations indicate the presence of characteristic strain-dependent social networks in dFMR1(B55) flies, commonly referred to as the group phenotype. Finally, combining novel research tools is a valuable method for SI research in fruit flies.

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40. Thielman J, Orr S, Naraentheraraja S, Harrington D, Carsley S. Cross-sectional analysis of the association between household food insecurity and mental health conditions in children aged 5-11 years in Canada. BMJ Open. 2024; 14(6): e081538.

BACKGROUND: Children living in food insecure households have poorer mental health outcomes compared with their food-secure peers; however, the relationship between the severity of food insecurity and diagnosed mental health conditions in young children remains unknown. This study examined the association between household food insecurity and reported diagnosed mental health conditions among children aged 5-11 years in Canada. METHODS: This study included 16 216 children aged 5-11 years living in Canada, from the 2019 Canadian Health Survey on Children and Youth. We measured household food insecurity using the Household Food Security Survey Module. We measured diagnosed mental health conditions by parent/caregiver report of health professional-diagnosed anxiety, depression, autism spectrum disorder or attention-deficit/hyperactive disorder. We developed a multivariable logistic regression model to assess the association between severities of food insecurity and mental health, controlling for potentially confounding variables. RESULTS: 17.0% of children lived in households reporting some level of food insecurity (5.4% marginal, 8.0% moderate and 3.6% severe). The prevalence of at least one diagnosed mental health condition in the same population was 10.9%. After adjusting for sociodemographic characteristics, children from marginal, moderate and severe food insecure households had a 1.39 (95% CI 0.99 to 1.97), 1.46 (95% CI 1.13 to 1.89) and 1.67 (95% CI 1.18 to 2.35) increased odds of having a diagnosed mental health condition, respectively. CONCLUSION: Household food insecurity is associated with an increased presence of diagnosed mental health conditions in children aged 5-11 years. This study adds to the body of research showing that social and economic inequities, including household food insecurity, negatively impact the health of children.

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41. Thompson MD. Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases. Genes (Basel). 2024; 15(6).

Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using massively parallel sequencing for diagnostic purposes […].

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42. Touali R, Allisse M, Zerouaoui J, Chakir EM, Gagnon D, Bui HT, Leone M. Anthropometric Profile, Overweight/Obesity Prevalence, and Socioeconomic Impact in Moroccan Children Aged 6-12 Years Old with Autism Spectrum Disorder. Int J Environ Res Public Health. 2024; 21(6).

BACKGROUND: In addition to the inherent challenges of their condition, children with autism spectrum disorder (ASD) are also susceptible to the global obesity epidemic. However, concerning the prevalence of obesity within the Moroccan ASD pediatric population, data remain scarce. METHODS: A total of 258 children (boys = 195) aged 6 to 12 years old (mean = 9.4 ± 1.4) diagnosed with ASD participated in this study. Besides the body mass and height, four significant anthropometric markers for assessing obesity were examined: body mass index (BMI), body surface area (BSA), waist circumference (WC), and waist-to-height ratio (WHtR). Each anthropometric marker was categorized into one of three cardiometabolic risk levels based on the Z-scores and their corresponding percentiles. The distribution was as follows: low risk (≤84th percentile), high risk (85th-94th percentile), and very high risk (≥95th percentile). Subsequently, a multiple regression analysis was employed to develop an algorithm that generates a composite risk score. This score incorporates all the anthropometric variables simultaneously, while also weighting their individual contributions to the cardiometabolic risk. RESULTS: Children with ASD exhibit an anthropometric profile that markedly increases their susceptibility to cardiometabolic issues. While roughly 11% of the general Moroccan child population is overweight or obese, this figure soars to nearly 60% among children with ASD when considering the central adiposity markers. Furthermore, children from middle-class socioeconomic backgrounds display a more than threefold greater risk of developing overweight or obesity compared to their counterparts from lower socioeconomic backgrounds. CONCLUSIONS: This study has, for the first time, provided an up-to-date overview of the cardiometabolic risk in Moroccan children with ASD using traditional anthropometric measurements. The primary risk factor is clearly linked to central (abdominal) adiposity, which is recognized as the most deleterious. This study highlights the need to include general and central obesity markers. This study underscores the importance of incorporating both general and central adiposity markers for a more comprehensive assessment, and it emphasizes the need for closer monitoring within this high-risk population.

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43. Wang J, Christensen D, Coombes SA, Wang Z. Cognitive and brain morphological deviations in middle-to-old aged autistic adults: A systematic review and meta-analysis. Neurosci Biobehav Rev. 2024; 163: 105782.

Cognitive challenges and brain structure variations are common in autism spectrum disorder (ASD) but are rarely explored in middle-to-old aged autistic adults. Cognitive deficits that overlap between young autistic individuals and elderlies with dementia raise an important question: does compromised cognitive ability and brain structure during early development drive autistic adults to be more vulnerable to pathological aging conditions, or does it protect them from further decline? To answer this question, we have synthesized current theoretical models of aging in ASD and conducted a systematic literature review (Jan 1, 1980 – Feb 29, 2024) and meta-analysis to summarize empirical studies on cognitive and brain deviations in middle-to-old aged autistic adults. We explored findings that support different aging theories in ASD and addressed study limitations and future directions. This review sheds light on the poorly understood consequences of aging question raised by the autism community to pave the way for future studies to identify sensitive and reliable measures that best predict the onset, progression, and prognosis of pathological aging in ASD.

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44. Westmark PR, Swietlik TJ, Runde E, Corsiga B, Nissan R, Boeck B, Granger R, Jennings E, Nebbia M, Thauwald A, Lyon G, Maganti RK, Westmark CJ. Adult Inception of Ketogenic Diet Therapy Increases Sleep during the Dark Cycle in C57BL/6J Wild Type and Fragile X Mice. Int J Mol Sci. 2024; 25(12).

Sleep problems are a significant phenotype in children with fragile X syndrome. Our prior work assessed sleep-wake cycles in Fmr1(KO) male mice and wild type (WT) littermate controls in response to ketogenic diet therapy where mice were treated from weaning (postnatal day 18) through study completion (5-6 months of age). A potentially confounding issue with commencing treatment during an active period of growth is the significant reduction in weight gain in response to the ketogenic diet. The aim here was to employ sleep electroencephalography (EEG) to assess sleep-wake cycles in mice in response to the Fmr1 genotype and a ketogenic diet, with treatment starting at postnatal day 95. EEG results were compared with prior sleep outcomes to determine if the later intervention was efficacious, as well as with published rest-activity patterns to determine if actigraphy is a viable surrogate for sleep EEG. The data replicated findings that Fmr1(KO) mice exhibit sleep-wake patterns similar to wild type littermates during the dark cycle when maintained on a control purified-ingredient diet but revealed a genotype-specific difference during hours 4-6 of the light cycle of the increased wake (decreased sleep and NREM) state in Fmr1(KO) mice. Treatment with a high-fat, low-carbohydrate ketogenic diet increased the percentage of NREM sleep in both wild type and Fmr1(KO) mice during the dark cycle. Differences in sleep microstructure (length of wake bouts) supported the altered sleep states in response to ketogenic diet. Commencing ketogenic diet treatment in adulthood resulted in a 15% (WT) and 8.6% (Fmr1(KO)) decrease in body weight after 28 days of treatment, but not the severe reduction in body weight associated with starting treatment at weaning. We conclude that the lack of evidence for improved sleep during the light cycle (mouse sleep time) in Fmr1(KO) mice in response to ketogenic diet therapy in two studies suggests that ketogenic diet may not be beneficial in treating sleep problems associated with fragile X and that actigraphy is not a reliable surrogate for sleep EEG in mice.

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45. Wikarska A, Roszak K, Roszek K. Mesenchymal Stem Cells and Purinergic Signaling in Autism Spectrum Disorder: Bridging the Gap between Cell-Based Strategies and Neuro-Immune Modulation. Biomedicines. 2024; 12(6).

The prevalence of autism spectrum disorder (ASD) is still increasing, which means that this neurodevelopmental lifelong pathology requires special scientific attention and efforts focused on developing novel therapeutic approaches. It has become increasingly evident that neuroinflammation and dysregulation of neuro-immune cross-talk are specific hallmarks of ASD, offering the possibility to treat these disorders by factors modulating neuro-immunological interactions. Mesenchymal stem cell-based therapy has already been postulated as one of the therapeutic approaches for ASD; however, less is known about the molecular mechanisms of stem cell influence. One of the possibilities, although still underestimated, is the paracrine purinergic activity of MSCs, by which stem cells ameliorate inflammatory reactions. Modulation of adenosine signaling may help restore neurotransmitter balance, reduce neuroinflammation, and improve overall brain function in individuals with ASD. In our review article, we present a novel insight into purinergic signaling, including but not limited to the adenosinergic pathway and its role in neuroinflammation and neuro-immune cross-talk modulation. We anticipate that by achieving a greater understanding of the purinergic signaling contribution to ASD and related disorders, novel therapeutic strategies may be devised for patients with autism in the near future.

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46. Xu G, Geng G, Wang A, Li Z, Liu Z, Liu Y, Hu J, Wang W, Li X. Three autism subtypes based on single-subject gray matter network revealed by semi-supervised machine learning. Autism Res. 2024.

Autism spectrum disorder (ASD) is a heterogeneous, early-onset neurodevelopmental condition characterized by persistent impairments in social interaction and communication. This study aims to delineate ASD subtypes based on individual gray matter brain networks and provide new insights from a graph theory perspective. In this study, we extracted and normalized single-subject gray matter networks and calculated each network’s topological properties. The heterogeneity through discriminative analysis (HYDRA) method was utilized to subtype all patients based on network properties. Next, we explored the differences among ASD subtypes in terms of network properties and clinical measures. Our investigation identified three distinct ASD subtypes. In the case-control study, these subtypes exhibited significant differences, particularly in the precentral gyrus, lingual gyrus, and middle frontal gyrus. In the case analysis, significant differences in global and nodal properties were observed between any two subtypes. Clinically, subtype 1 showed lower VIQ and PIQ compared to subtype 3, but exhibited higher scores in ADOS-Communication and ADOS-Total compared to subtype 2. The results highlight the distinct brain network properties and behaviors among different subtypes of male patients with ASD, providing valuable insights into the neural mechanisms underlying ASD heterogeneity.

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47. Yin JB, Wang GY, Duan GQ, Nie WH, Zhao MF, Jin TT. [Neurodevelopment and cerebral blood flow in children aged 2-6 years with autism spectrum disorder]. Zhongguo Dang Dai Er Ke Za Zhi. 2024; 26(6): 599-604.

OBJECTIVES: To investigate the neurodevelopmental characteristics of children with autism spectrum disorder (ASD), analyze the correlation between neurodevelopmental indicators and cerebral blood flow (CBF), and explore the potential mechanisms of neurodevelopment in ASD children. METHODS: A retrospective study was conducted on 145 children aged 2-6 years with newly-diagnosed ASD. Scores from the Gesell Developmental Diagnosis Scale and the Autism Behavior Checklist (ABC) and CBF results were collected to compare gender differences in the development of children with ASD and analyze the correlation between CBF and neurodevelopmental indicators. RESULTS: Fine motor and personal-social development quotient in boys with ASD were lower than those in girls with ASD (P<0.05). Gross motor development quotient in ASD children was negatively correlated with CBF in the left frontal lobe (r=-0.200, P=0.016), right frontal lobe (r=-0.279, P=0.001), left parietal lobe (r=-0.208, P=0.012), and right parietal lobe (r=-0.187, P=0.025). The total ABC score was positively correlated with CBF in the left amygdala (r=0.295, P<0.001). CONCLUSIONS: Early intervention training should pay attention to gender and developmental structural characteristics for precise intervention in ASD children. CBF has the potential to become a biological marker for assessing the severity of ASD.

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48. Yuan LX, Wang XK, Yang C, Zhang QR, Ma SZ, Zang YF, Dong WQ. A systematic review of transcranial magnetic stimulation treatment for autism spectrum disorder. Heliyon. 2024; 10(11): e32251.

Autism spectrum disorder (ASD) is a behaviorally defined complex neurodevelopmental syndrome characterized by persistent social communication and interaction deficit. Transcranial magnetic stimulation (TMS) is a promising and emerging tool for the intervention of ASD by reducing both core and associate symptoms. Several reviews have been published regarding TMS-based ASD treatment, however, a systematic review on study characteristics, specific stimulating parameters, localization techniques, stimulated targets, behavioral outcomes, and neuroimage biomarker changes is lagged behind since 2018. Here, we performed a systematic search on literatures published after 2018 in PubMed, Web of Science, and Science Direct. After screening, the final systematic review included 17 articles, composing seven randomized controlled trial studies and ten open-label studies. Two studies are double-blind, while the other studies have a moderate to high risk of bias attributing to inadequate subject- and evaluator-blinding to treatment allocation. Five studies utilize theta-burst stimulation mode, and the others apply repetitive TMS with low frequency (five studies), high frequency (six studies), and combined low and high frequency stimulation (one study). Most researchers prioritize the bilateral dorsolateral prefrontal lobe as stimulation target, while parietal lobule, inferior parietal lobule, and posterior superior temporal sulci have also emerged as new targets of attention. One third of the studies use neuronavigation based on anatomical magnetic resonance imaging to locate the stimulation target. After TMS intervention, discernible enhancements across a spectrum of scales are evident in stereotyped behavior, repetitive behavior, and verbal social domains. A comprehensive review of literature spanning the last five years demonstrates the potential of TMS treatment for ASD in ameliorating the clinical core symptoms.

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49. Zamstein O, Wainstock T, Gutvirtz G, Sheiner E. Assessing the impact of medically assisted reproduction on autism spectrum disorder risk. J Assist Reprod Genet. 2024.

PURPOSE: Techniques of medically assisted reproduction interact with the embryo at crucial developmental stages, yet their impact on the fetus and subsequent child’s health remains unclear. Given rising infertility rates and more frequent use of fertility treatments, we aimed to investigate if these methods heighten the risk of autism spectrum disorder (ASD) in children. METHODS: A population-based cohort study was conducted at Soroka University Medical Center, a tertiary referral hospital, encompassing singleton births. The incidence of ASD in offspring, incorporating either hospital or community-based diagnoses, was compared in relation to the conception method. To examine the cumulative incidence of ASD, a Kaplan-Meier survival curve was utilized. Cox proportional hazards model was employed to adjust for confounders. RESULTS: Among 115,081 pregnancies, 0.5% involved ovulation induction (OI) and 1.7% in vitro fertilization (IVF), with the rest conceived naturally. Fertility treatments were more common in older patients and linked to more diabetes, hypertensive disorders, preterm, and cesarean deliveries. Out of 767 ASD diagnoses, offspring from OI and IVF had higher initial ASD rates (2.1% and 1.3%) than natural conceptions (0.6%). In a Cox model accounting for maternal age, ethnicity, and gender, neither OI nor IVF was significantly associated with ASD. The adjusted hazard ratios were 0.83 (95% CI 0.48-1.43) for OI and 1.34 (95% CI 0.91-1.99) for IVF. When considering fertility treatments combined, the association with ASD remained non-significant (aHR 1.11, 95% CI 0.80-1.54, p = 0.52). CONCLUSION: Fertility treatments, including OI and IVF, do not exhibit a significant association with heightened ASD risk in offspring.

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50. Zhao X, Wang H, Guo X, Zhang L, Liu W, Liu S, Ming D. [Review of joint attention deficit intervention based on virtual reality for children with autism]. Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2024; 41(3): 612-9.

Joint attention deficit is one of the core disorders in children with autism, which seriously affects the development of multiple basic skills such as language and communication. Virtual reality scene intervention has great potential in improving joint attention skills in children with autism due to its good interactivity and immersion. This article reviewed the application of virtual reality based social and nonsocial scenarios in training joint attention skills for children with autism in recent years, summarized the problems and challenges of this intervention method, and proposed a new joint paradigm for social scenario assessment and nonsocial scenario training. Finally, it looked forward to the future development and application prospects of virtual reality technology in joint attention skill training for children with autism.

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