1. Abbeduto L, Del Hoyo Soriano L, Berry-Kravis E, Sterling A, Edgin JO, Abdelnur N, Drayton A, Hoffmann A, Hamilton D, Harvey DJ, Thurman AJ. Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties. Scientific reports. 2023; 13(1): 9267.

The lack of psychometrically sound outcome measures has been a barrier to evaluating the efficacy of treatments proposed for core symptoms of intellectual disability (ID). Research on Expressive Language Sampling (ELS) procedures suggest it is a promising approach to measuring treatment efficacy. ELS entails collecting samples of a participant’s talk in interactions with an examiner that are naturalistic but sufficiently structured to ensure consistency and limit examiner effects on the language produced. In this study, we extended previous research on ELS by analyzing an existing dataset to determine whether psychometrically adequate composite scores reflecting multiple dimensions of language can be derived from ELS procedures administered to 6- to 23-year-olds with fragile X syndrome (n = 80) or Down syndrome (n = 78). Data came from ELS conversation and narration procedures administered twice in a 4-week test-retest interval. We found that several composites emerged from variables indexing syntax, vocabulary, planning processes, speech articulation, and talkativeness, although there were some differences in the composites for the two syndromes. Evidence of strong test-retest reliability and construct validity of two of three composites were obtained for each syndrome. Situations in which the composite scores would be useful in evaluating treatment efficacy are outlined.

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2. Ardesch DJ, Libedinsky I, Scholtens LH, Wei Y, van den Heuvel MP. Convergence of Brain Transcriptomic and Neuroimaging Patterns in Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder, and Major Depressive Disorder. Biological psychiatry Cognitive neuroscience and neuroimaging. 2023; 8(6): 630-9.

BACKGROUND: Psychiatric conditions show overlap in their symptoms, genetics, and involvement in brain areas and circuits. Structural alterations in the brain have been found to run in parallel with expression profiles of risk genes at the level of the brain transcriptome, which may point toward a potential transdiagnostic vulnerability of the brain to disease processes. METHODS: We characterized the transcriptomic vulnerability of the cortex across 4 major psychiatric disorders based on collated data from patients with psychiatric disorders (n = 390) and matched control participants (n = 293). We compared normative expression profiles of risk genes linked to schizophrenia, bipolar disorder, autism spectrum disorder, and major depressive disorder to examine cross-disorder overlap in spatial expression profiles across the cortex and their concordance with a magnetic resonance imaging-derived cross-disorder profile of structural brain alterations. RESULTS: We showed high expression of psychiatric risk genes converging on multimodal cortical regions of the limbic, ventral attention, and default mode networks versus primary somatosensory networks. Risk genes were found to be enriched among genes associated with the magnetic resonance imaging cross-disorder profile, suggestive of a common link between brain anatomy and the transcriptome in psychiatric conditions. Characterization of this cross-disorder structural alteration map further shows enrichment for gene markers of astrocytes, microglia, and supragranular cortical layers. CONCLUSIONS: Our findings suggest that normative expression profiles of disorder risk genes confer a shared and spatially patterned vulnerability of the cortex across multiple psychiatric conditions. Transdiagnostic overlap in transcriptomic risk suggests a common pathway to brain dysfunction across psychiatric disorders.

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3. Bay H, Haghighatfard A, Karimipour M, Seyedena SY, Hashemi M. Expression alteration of Neuroligin family gene in attention deficit and hyperactivity disorder and autism spectrum disorder. Research in developmental disabilities. 2023; 139: 104558.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopment disorder with social and communicational deficiency, language impairment, and ritualistic behaviors. Attention deficit hyperactivity disorder (ADHD) is a pediatric psychiatric disorder with symptoms, including attention deficit, hyperactivity, and impulsiveness. ADHD is a childhood-onset disorder that can persist into adult life. Neuroligins are post-synaptic cell-adhesion molecules that connect neurons and have an essential role in the mediation of trans-synaptic signaling and shaping the synapse and circuits and neural network functioning. AIMS: Present study aimed to shed light on the role of the Neuroligin gene family in ASD and ADHD. METHODS AND PROCEDURES: mRNA levels of the Neuroligin gene family (NLGN1, NLGN2, NLGN3, and NLGN4X) were studied in the peripheral blood of 450 unrelated ASD patients, 450 unrelated ADHD patients, and the normal group included 490 unrelated non-psychiatric children by quantitative PCR. Also, clinical situations were considered. OUTCOMES AND RESULTS: Results showed that mRNA levels of NLGN1, NLGN2, and NLGN3 were significantly down-regulated in the ASD group vs. control subjects. In ADHD, a significant reduction of NLGN2 and NLGN3 was detected in comparison with normal children. A comparison of ASD and ADHD subjects revealed that NLGN2 was significantly down-regulated in ASD subjects. CONCLUSIONS: The Neuroligin family gene may play an essential role in the etiology of ASD and ADHD and thus be a source for a better understanding of neurodevelopment disorders. IMPLICATIONS: Similar patterns of deficiency of Neuroligin family genes in ASDs and ADHDs may indicate the role of these genes in functions that have been affected in both disorders.

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4. Cook NE, Iverson IA, Maxwell B, Zafonte R, Berkner PD, Iverson GL. Neurocognitive Test Performance and Concussion-Like Symptom Reporting Among Adolescent Athletes With Self-Reported Autism on Preseason Assessments. Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists. 2023.

OBJECTIVE: To examine baseline neurocognitive functioning and symptom reporting among adolescents with self-reported autism. METHOD: Participants in this cross-sectional, observational study were 60,751 adolescents who completed preseason testing. There were 425 students (0.7%) who self-reported an autism spectrum disorder (ASD) diagnosis. Cognitive functioning was measured by Immediate Post-Concussion Assessment and Cognitive Testing and symptom ratings were obtained from the Post-Concussion Symptom Scale. RESULTS: Groups differed significantly across all neurocognitive composites (p values <.002); effect size magnitudes for most differences were small, though among boys a noteworthy difference on visual memory and among girls differences on verbal memory and visual motor speed composites were noted. Among boys, the ASD group endorsed 21 of the 22 symptoms at a greater rate. Among girls, the ASD group endorsed 11 of the 22 symptoms at a greater rate. Some examples of symptoms that were endorsed at a higher rate among adolescents with self-reported autism were sensitivity to noise (girls: odds ratio, OR = 4.38; boys: OR = 4.99), numbness or tingling (girls: OR = 3.67; boys: OR = 3.25), difficulty remembering (girls: OR = 2.01; boys: OR = 2.49), difficulty concentrating (girls: OR = 1.82; boys: OR = 2.40), sensitivity to light (girls: OR = 1.82; boys: OR = 1.76), sadness (girls: OR = 1.72; boys: OR = 2.56), nervousness (girls: OR = 1.80; boys: OR = 2.27), and feeling more emotional (girls: OR = 1.79; boys: OR = 2.84). CONCLUSION: Students with self-reported autism participating in organized sports likely experience a low degree of functional impairment, on average. If they sustain a concussion, their clinical management should be more intensive to maximize the likelihood of swift and favorable recovery.

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5. Doldur-Balli F, Zimmerman AJ, Keenan BT, Shetty ZY, Grant SFA, Seiler C, Veatch OJ, Pack AI. Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep. Neurobiology of sleep and circadian rhythms. 2023; 14: 100096.

Sleep fulfills critical functions in neurodevelopment, such as promoting synaptic plasticity, neuronal wiring, and brain connectivity which are critical phenomena in Autism Spectrum Disorder (ASD) pathophysiology. Sleep disturbance, specifically insomnia, accompanies ASD and is associated with more severe core symptoms (e.g., social impairment). It is possible that focusing on identifying effective ways to treat sleep problems can help alleviate other ASD-related symptoms. A body of evidence indicates shared mechanisms and neurobiological substrates between sleep and ASD and investigation of these may inform therapeutic effects of improving sleep at both behavioral and molecular levels. In this study, we tested if sleep and social behavior were different in a zebrafish model with the arid1b gene mutated compared to controls. This gene was selected for study as expert curations conducted for the Simons Foundation for Autism Research Institute (SFARI) Gene database define it is as a ‘high confidence’ ASD gene (i.e., clearly implicated) encoding a chromatin remodeling protein. Homozygous arid1b mutants displayed increased arousability and light sleep compared to their heterozygous and wild type counterparts, based on testing a mechano-acoustic stimulus presenting different vibration frequencies of increasing intensity to detect sleep depth. In addition, decreased social preference was observed in arid1b heterozygous and homozygous mutant zebrafish. The behavioral phenotypes reported in our study are in line with findings from mouse models and human studies and demonstrate the utility of zebrafish as a vertebrate model system with high throughput phenotyping in the investigation of changes in sleep in models relevant to ASD. Furthermore, we demonstrate the importance of including assessments of arousal threshold when studying sleep using in vivo models.

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6. Eaton C, Roarty K, Doval N, Shetty S, Goodall K, Rhodes SM. The Prevalence of Attention Deficit/Hyperactivity Disorder Symptoms in Children and Adolescents With Autism Spectrum Disorder Without Intellectual Disability: A Systematic Review. Journal of attention disorders. 2023: 10870547231177466.

OBJECTIVE: ADHD commonly co-occurs with ASD without ID in young people. It has been difficult to obtain accurate prevalence estimates of ADHD in this population, as a dual-diagnosis was not permitted until DSM-V. We systematically reviewed the literature on the prevalence of ADHD symptoms in young people with ASD without ID. METHOD: 9,050 articles were identified through six databases. Articles were reviewed against inclusion and exclusion criteria and 23 studies were included. RESULTS: ADHD symptom prevalence varied from 2.6% to 95.5%. We discuss these findings according to the ADHD assessment measure, informant, diagnostic criteria, risk of bias rating and recruitment pool. CONCLUSION: ADHD symptoms are common in young people with ASD without ID, but there is substantial variance in study reporting. Future studies should recruit participants from community sources, provide information on key sociodemographic sample characteristics and assess ADHD with standardized diagnostic criteria, using both parent/carer and teacher report.

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7. Ghanouni P, Seaker L. What does receiving autism diagnosis in adulthood look like? Stakeholders’ experiences and inputs. International journal of mental health systems. 2023; 17(1): 16.

INTRODUCTION: The age of diagnosis is crucial for optimal health outcomes; however, some individuals with Autism Spectrum Disorder (ASD) may not be diagnosed until adulthood. Limited information is available about the lived experience of receiving a diagnosis during adulthood. Thus, we aimed to investigate stakeholders’ experiences about the ASD diagnosis during adulthood. METHOD: We interviewed 18 individuals including 13 adults with ASD who had received a late diagnosis during adulthood and 5 parents of individuals with ASD from various Canadian provinces. RESULTS: Using a thematic analysis, three main themes emerged: (a) noticing differences and similarities, (b) hindering elements to diagnosis, and (c) emotional response to diagnostic odyssey. CONCLUSION: This study adds to the literature about experiences of receiving ASD diagnosis in adulthood. Given the impact of diagnosis on individuals, it is important to minimize the barriers to ensure individuals who require ASD-related supports can access them in a timely and effective manner. This study highlights the importance of receiving an ASD diagnosis and facilitates positive health outcomes. The findings from the current study can be used to guide adult diagnostic processes and practices to help make ASD diagnosis more accessible.

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8. Jacinto M, Matos R, Monteiro D, Antunes R, Caseiro A, Gomes B, Campos MJ, Ferreira JP. Effects of a 24-week exercise program on anthropometric, body composition, metabolic status, cardiovascular response, and neuromuscular capacity, in individuals with intellectual and developmental disabilities. Frontiers in physiology. 2023; 14: 1205463.

Introduction: The prevalence of overweight and obesity has increased in the last decades, including in people with Intellectual and Developmental Disabilities (IDD). This is even more concerning when it is globally accepted that a low physical condition contributes to the deterioration of functionality and increases the risk of developing chronic diseases during life, with effective implications for health and well-being. The aim of the present study is to investigate the effects of two physical exercise intervention programs on institutionalized individuals with IDD. Methods: Twenty-one adults with IDD (43.04 ± 11.18 years) were split by convenience into three groups: i) an indoor training group (IG; N = 7; 24-week machine-based gym intervention), ii) an outdoor training group (OG; N = 7; 24-week outdoor intervention with low-content materials), and iii) a control group (CG; N = 7). Assessed outcomes included indicators of health and neuromuscular capacity. The ShapiroWilk (n < 50) and Levene tests were used to verify data normality and homoscedasticity. A Kruskal-Walli test was performed to understand if there were differences between the groups. For comparison purposes and to assess hypothetical differences between groups, the Wilcoxon signed-rank test and the Friedman test were used. The respective effect size was calculated, and the significance level was defined at 0.05. Results/Discussion: There was a difference in fat mass in OG (initial ≠ intermediate; Bonferroni corrected: t = 2.405; p = 0.048; W = 0.08 and initial ≠ final moments; Bonferroni corrected: t = 2.405; p = 0.048; W = 0.08). Indoor intervention programs seem to be more effective than outdoor intervention programs for reducing heart rate rest (t = -2.912; p = 0.011; W = -0.104) when compared with CG. Conclusion: A low-cost outdoor intervention in contact with nature appears to be more effective for fat mass reduction. The results for heart rate variability are not clear and robust. Finally, an indoor intervention using weight-training machines appears to be a good method to promote neuromuscular capacity.

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9. Liu X, Liu H, Gu N, Pei J, Lin X, Zhao W. Preeclampsia promotes autism in offspring via maternal inflammation and fetal NFκB signaling. Life science alliance. 2023; 6(8).

Preeclampsia (PE) is a risk factor for autism spectrum disorder (ASD) in offspring. However, the exact mechanisms underlying the impact of PE on progeny ASD are not fully understood, which hinders the development of effective therapeutic approaches. This study shows the offspring born to a PE mouse model treated by N(ω)-nitro-L-arginine methyl ester (L-NAME) exhibit ASD-like phenotypes, including neurodevelopment deficiency and behavioral abnormalities. Transcriptomic analysis of the embryonic cortex and adult offspring hippocampus suggested the expression of ASD-related genes was dramatically changed. Furthermore, the level of inflammatory cytokines TNFα in maternal serum and nuclear factor kappa B (NFκB) signaling in the fetal cortex were elevated. Importantly, TNFα neutralization during pregnancy enabled to ameliorate ASD-like phenotypes and restore the NFκB activation level in the offspring exposed to PE. Furthermore, TNFα/NFκB signaling axis, but not L-NAME, caused deficits in neuroprogenitor cell proliferation and synaptic development. These experiments demonstrate that offspring exposed to PE phenocopies ASD signatures reported in humans and indicate therapeutic targeting of TNFα decreases the likelihood of bearing children with ASD phenotypes from PE mothers.

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10. Malhotra AS, Kulesza R. Abnormal auditory brainstem responses in an animal model of autism spectrum disorder. Hearing research. 2023; 436: 108816.

Auditory dysfunction is a common feature of autism spectrum disorder (ASD) and ranges from deafness to hypersensitivity. The auditory brainstem response (ABR) permits study of the amplitude and latency of synchronized electrical activity along the ascending auditory pathway in response to clicks and pure tone stimuli. Indeed, numerous studies have shown that subjects with ASD have ABR abnormalities. In utero exposure to the antiepileptic drug valproic acid (VPA) is associated with human cases of ASD and is used as an animal model of ASD. Previous studies have shown that VPA-exposed animals have significantly fewer neurons in the auditory brainstem and thalamus, reduced ascending projections to the auditory midbrain and thalamus and increased neuronal activation in response to pure tone stimuli. Accordingly, we hypothesized that VPA-exposed animals would have abnormal ABRs throughout their lifespans. We approached this hypothesis in two cohorts. First, we examined ABRs from both ears on postnatal day 22 (P22). Then, we examined monaural ABRs in animals at P28, 60, 120, 180, 240, 300 and 360. Our results suggest that at P22, VPA-exposed animals have elevated thresholds and increased peak latencies. However, by P60 these differences largely normalize with differences appearing only near hearing threshold. Additionally, our analysis revealed that maturation of ABR waves occurred at different trajectories in control and VPA-exposed animals. These results, together with our previous work, suggest that VPA exposure not only impacts total neuron number and connectivity, but also auditory evoked responses. Finally, our longitudinal analysis suggests that delayed maturation of auditory brainstem circuits may impact ABRs throughout the lifespan of the animal.

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11. Matyjek M, Bayer M, Dziobek I. Reward responsiveness in autism and autistic traits – Evidence from neuronal, autonomic, and behavioural levels. NeuroImage Clinical. 2023; 38: 103442.

Autism has been linked to atypicalities in reward processing, especially in the social domain. However, results are heterogeneous, and their interpretation is hindered by the use of personally non-relevant social rewards. In this study we investigated behavioural (reaction times), neuronal (event-related potentials), and autonomic (pupil sizes) responses to personally relevant social rewards, money, and neutral outcomes in 26 autistic and 53 non-autistic subjects varying in levels of autistic traits. As hypothesised and preregistered, autism and autistic traits did not differently influence responses to social, monetary, or neutral outcomes on either response level. While groups did not differ in behaviour (reaction times), autism was linked to generally enhanced brain responses in early anticipation and larger pupil constrictions in reward reception. Together, these results suggest that when using personally relevant stimuli, autism is linked to generally preserved, although less neuronally efficient processing of rewards. Considering the role of social relevance in reward processing, we propose an interpretation of contradictory evidence from clinical practice and empirical research.

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12. Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, Lin T, Stankovic S, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nature medicine. 2023.

Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic analog of glycine-proline-glutamate, the N-terminal tripeptide of the insulin-like growth factor 1 protein, and has demonstrated clinical benefit in phase 2 studies in Rett syndrome. In this phase 3 study ( https://clinicaltrials.gov identifier NCT04181723 ), females with Rett syndrome received twice-daily oral trofinetide (n = 93) or placebo (n = 94) for 12 weeks. For the coprimary efficacy endpoints, least squares mean (LSM) change from baseline to week 12 in the Rett Syndrome Behaviour Questionnaire for trofinetide versus placebo was -4.9 versus -1.7 (P = 0.0175; Cohen’s d effect size, 0.37), and LSM Clinical Global Impression-Improvement at week 12 was 3.5 versus 3.8 (P = 0.0030; effect size, 0.47). For the key secondary efficacy endpoint, LSM change from baseline to week 12 in the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist Social Composite score was -0.1 versus -1.1 (P = 0.0064; effect size, 0.43). Common treatment-emergent adverse events included diarrhea (80.6% for trofinetide versus 19.1% for placebo), which was mostly mild to moderate in severity. Significant improvement for trofinetide compared with placebo was observed for the coprimary efficacy endpoints, suggesting that trofinetide provides benefit in treating the core symptoms of Rett syndrome.

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13. Ronald A. Editorial: What’s in a name? Drawing on the examples of autism and schizophrenia, some reflections on diagnostic labels and their future role in child and adolescent psychiatry. Journal of child psychology and psychiatry, and allied disciplines. 2023; 64(7): 977-9.

Ten years have passed since the release of DSM-5, which brought with it some notable changes in diagnostic labels. In this editorial, the impact of labels, and the changes in labels used in child and adolescent psychiatry, are discussed, with examples drawn from autism and schizophrenia. The diagnostic labels that children and adolescents receive feed into their treatment access and future potential but also to their self-identities. Outside of medicine, extensive budgets and time are spent to test how consumers identify with the labels of products. Diagnoses are not commercial products, of course, but the choice of labels used in child and adolescent psychiatry should remain a priority, in light of their impact on translational science, treatment and on individuals, alongside the ever-evolving nature of language itself.

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14. Takeda R, Ishii R, Parvin S, Shiozawa A, Nogi T, Sasaki Y. Novel Presynaptic Assay System Revealed That Metformin Ameliorates Exaggerated Synaptic Release and Munc18-1 Accumulation in Presynapses of Neurons from Fragile X Mouse Model. Neuroscience letters. 2023: 137317.

Fragile X syndrome (FXS) is a developmental disorder characterized by intellectual disability and autistic-like behaviors. These symptoms are supposed to result from dysregulated translation in pre- and postsynapses, resulting in aberrant synaptic plasticity. Although most drug development research on FXS has focused on aberrant postsynaptic functions by excess translation in postsynapses, the effect of drug candidates on FXS in presynaptic release is largely unclear. In this report, we developed a novel assay system using neuron ball culture with beads to induce presynapse formation, allowing for the analysis of presynaptic phenotypes, including presynaptic release. Metformin, which is shown to rescue core phenotypes in FXS mouse model by normalizing dysregulated translation, ameliorated the exaggerated presynaptic release of neurons of FXS model mouse using this assay system. Furthermore, metformin suppressed the excess accumulation of the active zone protein Munc18-1, which is supposed to be locally translated in presynapses. These results suggest that metformin rescues both postsynaptic and presynaptic phenotypes by inhibiting excess translation in presynapses of FXS neurons.

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15. Young S, Cocallis K. A Systematic Review of the Relationship Between Neurodiversity and Psychosexual Functioning in Individuals with Autism Spectrum Disorder (ASD) or Attention-Deficit/Hyperactivity Disorder (ADHD). Neuropsychiatric disease and treatment. 2023; 19: 1379-95.

The scientific literature on psychosexual functioning shows a range of outcomes for individuals with neurodiversity. The aim of this article was to synthesize and critically evaluate evidence regarding psychosexual selfhood (orientation), behaviors and experiences in individuals with autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) to prioritize further research and identify interventions to reduce risk. A systematic review of the literature that compared sexual orientation, behavior and experiences of individuals with ASD or ADHD with those of neurotypical peers was performed in AMED, CINAHL, MEDLINE, PsycARTICLES and PsycINFO, Psychology and Behavioural Sciences Collection, Child Development and Adolescent Studies databases (supplemented by hand-searching of reference lists). Seventeen ASD and nineteen ADHD studies met inclusion criteria. Overall, the studies reviewed suggest poorer psychosexual functioning for individuals with ASD or ADHD compared to neurotypical peers, including a lack of satisfaction in their sexual relationships, sexual dysfunction, risky sexual behaviors, and victimization. This appears to be more marked for females. Individuals with ASD were more likely to identify with a non-heterosexual orientation compared with neurotypical peers. The study identifies gaps in our knowledge relating to risky sexual behaviors (in particular, those relating to sexual health and vulnerability to sexual victimization and perpetration). The public health implications of the findings are discussed. Future research is needed to clarify the mechanisms by which individuals with neurodevelopmental disorders may be at increased risk of adverse psychosexual outcomes and identify interventions that may mediate outcomes.

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16. Zhang K, Fu Z, Lai Q, Zhao Y, Liu J, Cao Q. The shared white matter developmental trajectory anomalies of attention-deficit/hyperactivity disorder and autism spectrum disorders: A meta-analysis of diffusion tensor imaging studies. Progress in neuro-psychopharmacology & biological psychiatry. 2023; 124: 110731.

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) show common brain area abnormalities, which may contribute to the high shared co-occurrence symptoms and comorbidity of the two disorders. However, neuroanatomic anomalies in neurodevelopmental disorders may change over the course of development, and the developmental variation of these two disorders is unclear. Our study conducted a systematic literature search of PubMed, Web of Science, and EMBASE databases to identify disorder-shared abnormalities of white matter (WM) from childhood to adulthood in ADHD and ASD. 28 ADHD and 23 ASD datasets were included in this meta-analysis and were analysed by AES-SDM to detect differences in fractional anisotropy in patients compared to typically developing individuals. Our main findings reveal the variable WM developmental trajectories in ADHD and ASD respectively, and the two disorders showed overlapping corpus callosum tract abnormalities in their development from children to adults. Furthermore, the overlapping abnormalities of the corpus callosum tract increased with age, which may be related to their gradually increasing shared symptoms and comorbidity in these two disorders.

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17. Zhu J, Meng H, Zhang L, Li Y. Exploring the molecular mechanism of comorbidity of autism spectrum disorder and inflammatory bowel disease by combining multiple data sets. Journal of translational medicine. 2023; 21(1): 372.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is difficult to diagnose. Inflammatory bowel disease (IBD) is a common chronic digestive disease. Previous studies have shown a potential correlation between ASD and IBD, but the pathophysiological mechanism remains unclear. The purpose of this research was to examine the biological mechanisms underlying the differentially expressed genes (DEGs) of ASD and IBD using bioinformatics tools. METHODS: Limma software was used to evaluate the DEGs between ASD and IBD. The GSE3365, GSE18123, and GSE150115 microarray data sets were acquired from the Gene Expression Omnibus (GEO) database. We then performed 6 analyses, namely, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) functional annotation; weighted gene coexpression network analysis; correlation analysis of hub genes with autophagy, ferroptosis and immunity; transcriptional regulation analysis of hub genes; single-cell sequencing analysis; and potential therapeutic drug prediction. RESULTS: A total of 505 DEGs associated with ASD and 616 DEGs associated with IBD were identified, and 7 genes overlapped between these sets. GO and KEGG analyses revealed several pathways enriched in both diseases. A total of 98 common genes related to ASD and IBD were identified by weighted gene coexpression network analysis (WGCNA), and 4 hub genes were obtained by intersection with the 7 intersecting DEGs, which were PDGFC, CA2, GUCY1B3 and SDPR. We also found that 4 hub genes in the two diseases were related to autophagy, ferroptosis or immune factors. In addition, motif-TF annotation analysis showed that cisbp__M0080 was the most relevant motif. We also used the Connectivity Map (CMap) database to identify 4 potential therapeutic agents. CONCLUSION: This research reveals the shared pathogenesis of ASD and IBD. In the future, these common hub genes may provide new targets for further mechanistic research as well as new therapies for patients with ASD and IBD.

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