1. 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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2. Blaxill M, Rogers T, Nevison C. Retraction Note: Autism Tsunami: The Impact of Rising Prevalence on the Societal Cost of Autism in the United States. Journal of autism and developmental disorders. 2023.

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3. Carey ME, Ardeleanu K, Marcus SC, Tao S, Mandell D, Epstein AJ, Shea LL. Short report on navigating access to care for Medicaid-enrolled autistic youth and young adults: Examining accrual of intellectual disability diagnoses in adolescence. Autism : the international journal of research and practice. 2023: 13623613231177559.

What is known? In most states, Medicaid waivers provide individuals with an intellectual disability diagnosis generous healthcare coverage throughout adulthood. By comparison, fewer Medicaid programs are available for autistic individuals, and they are more likely to experience disruptions, or gaps, in Medicaid coverage and subsequently not re-enroll.What this paper adds? One in five autistic individuals with Medicaid coverage between ages 8 and 25 accrued a new intellectual disability diagnosis. The probability of a new intellectual disability diagnosis was higher among those who had previous disruptions in Medicaid coverage.Implications for research and policy. Expanding Medicaid to cover autistic people of all ages could decrease the need for intellectual disability diagnosis accrual. Input from autistic individuals and their families regarding their health insurance access and healthcare experiences is critically important to understanding next steps for research.

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4. Castaño Novoa P, Limeres Posse J, García Mato E, Varela Aneiros I, Abeleira Pazos MT, Diz Dios P, Rivas Mundiña B. Dental desensitization by dentists and occupational therapists for autistic adults: A pilot study. Autism : the international journal of research and practice. 2023: 13623613231173757.

Managing patients with autism in the dental clinic often requires resorting to pharmacological behavioral control techniques, including general anesthesia. References in the literature to desensitization programs are scarce and focus on training children with autism to undergo oral examinations and preventive procedures. This study shows that a dental desensitization program implemented by dentists and occupational therapists could help in performing not only oral examinations but also simple dental therapeutic procedures for a considerable percentage of adults with autism, without using a pharmacological intervention (sedation or general anesthesia).

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5. Dell’Osso L, Nardi B, Bonelli C, Gravina D, Benedetti F, Amatori G, Battaglini S, Massimetti G, Luciano M, Berardelli I, Brondino N, De Gregorio M, Deste G, Nola M, Reitano A, Muscatello MRA, Pompili M, Politi P, Vita A, Carmassi C, Cremone IM, Carpita B, Maj M. Investigating suicidality across the autistic-catatonic continuum in a clinical sample of subjects with major depressive disorder and borderline personality disorder. Frontiers in psychiatry. 2023; 14: 1124241.

BACKGROUND: Recent literature has highlighted that catatonia may be more prevalent among psychiatric patients than previously thought, beginning from autism spectrum disorders (ASD), for which it has been suggested to represent a severe late consequence, but also among individuals with mood disorders and borderline personality disorder (BPD). Interestingly, one critical point shared by these conditions is the increased risk of suicidality. The aim of this study was to evaluate how the presence and the prevalence of catatonic symptoms may shape and correlate with suicidal risk in a sample of individuals with major depressive disorder (MDD) or BPD. METHODS: We recruited two clinical samples of subjects (BPD and MDD) and a control group without a diagnosis according to DSM-5 (CTL). Subjects were assessed with the catatonia spectrum (CS) and the MOODS-SR for evaluating suicidality. RESULTS: In the total sample, suicidality score was significantly and positively correlated with all CS domains and CS total score. Correlation and regression analyses highlighted specific patterns of association among Catatonia spectrum domains and suicidality in the MDD and BPD group and in the total sample. CONCLUSION: In both disorders, higher catatonic traits are linked to higher suicidal tendencies, confirming the high risk of suicide for this population. However, different patterns of association between catatonic symptoms and suicidality were highlighted in the two disorders.

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6. Hotez E, Chua KJ, Samras N, Smith AM, Kuo A. Preliminary Pilot-Testing of Social Determinants of Health Screener for Individuals With Intellectual and Developmental Disabilities in Med-Peds. Cureus. 2023; 15(5): e38541.

In the United States, one in six children has an intellectual and/or developmental disability (I/DD), including attention deficit hyperactivity disorder (ADHD), autism, cerebral palsy, learning disabilities, seizures, and developmental delays, with or without intellectual impairment. Individuals with I/DDs experience disproportionate rates of immune, metabolic, cardiovascular, and neurological disorders, as well as anxiety, depression, functional somatic symptoms, and other co-occurring physical and mental health conditions. During the coronavirus disease 2019 (COVID-19) pandemic, having an I/DD emerged as one of the strongest predictors of contracting and dying from COVID-19. These findings spurred increased attention toward the myriad health inequities affecting this population well before the pandemic. While inequities for individuals with I/DD can be traced to many factors, social determinants of health (SDOH) – the underlying social, economic, and environmental conditions that lead to poor health outcomes and high healthcare costs – are key contributors. Our interdisciplinary combined internal medicine and pediatrics (Med-Peds) team of physicians, psychologists, and researchers within a large, diverse, academic health system aimed to pilot-test the implementation of a five-item SDOH screener within a Med-Peds specialty clinic focused on the developmental needs of individuals with I/DD and their families (Leadership Education in Neurodevelopmental Disabilities {LEND}) and a general primary care practice (PCP). The SDOH screener tested in this initiative includes five items from the Accountable Health Communities (AHC) Health-Related Social Needs Screening Tool (HRSN) assessing social isolation, food insecurity, transportation, and paying for basic needs, such as housing and medical care. In this study, we describe the process of implementing this screener and collecting initial pilot data from 747 patients between October 2022 and April 2023 across the LEND and the primary care practice. We also highlight the challenges and opportunities identified during the mid-way point of implementation and pilot testing. The results of this pilot study revealed low response rates among SDOH screeners, spurring several measures to increase uptake, including increasing the accessibility of the screener and ensuring the screener results in effective referrals. We call on additional Med-Peds healthcare teams without universal SDOH screening protocols in place – particularly those serving the I/DD population – to consider adopting these practices.

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7. Milano N, Simeoli R, Rega A, Marocco D. A deep learning latent variable model to identify children with autism through motor abnormalities. Frontiers in psychology. 2023; 14: 1194760.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a by-birth neurodevelopmental disorder difficult to diagnose owing to the lack of clinical objective and quantitative measures. Classical diagnostic processes are time-consuming and require many specialists’ collaborative efforts to be properly accomplished. Most recent research has been conducted on automated ASD detection using advanced technologies. The proposed model automates ASD detection and provides a new quantitative method to assess ASD. METHODS: The theoretical framework of our study assumes that motor abnormalities can be a potential hallmark of ASD, and Machine Learning may represent the method of choice to analyse them. In this study, a variational autoencoder, a particular type of Artificial Neural Network, is used to improve ASD detection by analysing the latent distribution description of motion features detected by a tablet-based psychometric scale. RESULTS: The proposed ASD detection model revealed that the motion features of children with autism consistently differ from those of children with typical development. DISCUSSION: Our results suggested that it could be possible to identify potential motion hallmarks typical for autism and support clinicians in their diagnostic process. Potentially, these measures could be used as additional indicators of disorder or suspected diagnosis.

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8. Nimbley E, Gillespie-Smith K, Duffy F, Maloney E, Ballantyne C, Sharpe H. « It’s not about wanting to be thin or look small, it’s about the way it feels »: an IPA analysis of social and sensory differences in autistic and non-autistic individuals with anorexia and their parents. Journal of eating disorders. 2023; 11(1): 89.

BACKGROUND: Despite increasing evidence to support an overlap between autism and anorexia nervosa (AN), underlying mechanisms remain poorly understood. Social and sensory factors have emerged as promising targets in both autism and AN, however there remains scope to compare these differences across autistic and non-autistic experiences of AN. Drawing on dyadic multi-perspectives, this study explored experiences of social and sensory differences in autistic and non-autistic adults and their parents and/or carers. METHODS: Using interpretative phenomenological analysis (IPA), dyadic interviews were conducted with 14 dyads, with seven autistic dyads and seven non-autistic dyads. Data analysis was subjected to a triangulation of interpretations: (1) the participants themselves; (2) a neurotypical researcher; (3) and an Autistic researcher with lived/living experience of AN. RESULTS: IPA identified three themes in each group, with similarities and differences between autistic and non-autistic dyads. Similar themes were identified regarding the importance of social connectedness and socio-emotional difficulties, as well a common lack of trust in the social and sensory self and body. Autism-specific themes centred on feelings of social ‘defectiveness’, disparities between sensing and expressing certain cues, and lifelong, multi-sensory processing differences. Non-autistic themes reflected social comparisons and inadequacy, and sensitivities to the learning of ideals and behaviour through early experiences. CONCLUSIONS: While similarities were observed across both groups, there appeared to be notable differences in the perceived role and influence of social and sensory differences. These findings may have important implications on the delivery and modification of eating disorder interventions. Specifically, they suggest that while treatment targets may look similar, subtle differences in underlying mechanisms and approaches may be required for Autistic individuals with AN across sensory, emotion and communication-based interventions.

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9. Pan N, Lin LZ, Wang X, Shi L, Xu XY, Jin YY, Tan S, Song XJ, Jing J, Li XH. Brain structure underlying the empathizing-systemizing difference in children with autism spectrum disorder. World journal of pediatrics : WJP. 2023.

BACKGROUND: Behavioral research has shown that children with autism spectrum disorder (ASD) have a higher empathizing-systemizing difference (D score) than normal children. However, there is no research about the neuroanatomical mechanisms of the empathizing-systemizing difference in children with ASD. METHODS: Participants comprised 41 children with ASD and 39 typically developing (TD) children aged 6‒12 years. Empathizing-systemizing difference was estimated using the D score from the Chinese version of Children’s Empathy Quotient and Systemizing Quotient. We quantified brain morphometry, including global and regional brain volumes and surface-based cortical measures (cortical thickness, surface area, and gyrification) via structural magnetic resonance imaging. RESULTS: We found that the D score was significantly negatively associated with amygdala gray matter volume [β =  -0.16; 95% confidence interval (CI): -0.30,  -0.02; P value = 0.030] in children with ASD. There was a significantly negative association between D score and gyrification in the left lateral occipital cortex (LOC) in children with ASD (B =  -0.10; SE = 0.03; cluster-wise P value = 0.006) and a significantly positive association between D score and gyrification in the right fusiform in TD children (B = 0.10; SE = 0.03; cluster-wise P value = 0.022). Moderation analyses demonstrated significant interactions between D score and diagnosed group in amygdala gray matter volume (β = 0.19; 95% CI 0.04, 0.35; P value = 0.013) and left LOC gyrification (β = 0.11; 95% CI 0.05, 0.17; P value = 0.001) but not in right fusiform gyrification (β = 0.08; 95% CI -0.02, 0.17; P value = 0.105). CONCLUSIONS: Neuroanatomical variation in amygdala volume and gyrification of LOC could be potential biomarkers for the empathizing-systemizing difference in children with ASD but not in TD children. Large-scale neuroimaging studies are necessary to test the replicability of our findings.

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10. Sandhu A, Kumar A, Rawat K, Gautam V, Sharma A, Saha L. Modernising autism spectrum disorder model engineering and treatment via CRISPR-Cas9: A gene reprogramming approach. World journal of clinical cases. 2023; 11(14): 3114-27.

A neurological abnormality called autism spectrum disorder (ASD) affects how a person perceives and interacts with others, leading to social interaction and communication issues. Limited and recurring behavioural patterns are another feature of the illness. Multiple mutations throughout development are the source of the neurodevelopmental disorder autism. However, a well-established model and perfect treatment for this spectrum disease has not been discovered. The rising era of the clustered regularly interspaced palindromic repeats (CRISPR)-associated protein 9 (Cas9) system can streamline the complexity underlying the pathogenesis of ASD. The CRISPR-Cas9 system is a powerful genetic engineering tool used to edit the genome at the targeted site in a precise manner. The major hurdle in studying ASD is the lack of appropriate animal models presenting the complex symptoms of ASD. Therefore, CRISPR-Cas9 is being used worldwide to mimic the ASD-like pathology in various systems like in vitro cell lines, in vitro 3D organoid models and in vivo animal models. Apart from being used in establishing ASD models, CRISPR-Cas9 can also be used to treat the complexities of ASD. The aim of this review was to summarize and critically analyse the CRISPR-Cas9-mediated discoveries in the field of ASD.

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11. Sapey-Triomphe LA, Dierckx J, Vettori S, van Overwalle J, Wagemans J. A multilevel investigation of sensory sensitivity and responsivity in autistic adults. Autism research : official journal of the International Society for Autism Research. 2023.

A typical sensory processing is a core symptom of autism spectrum disorders (ASD). We aimed at better characterizing visual sensitivity and responsivity in ASD at the self-reported, behavioral and neural levels, and at describing the relationships between these levels. We refer to sensory sensitivity as the ability to detect sensory stimuli and to sensory responsivity as an affective response to sensory stimuli. Participants were 25 neurotypical and 24 autistic adults. At the self-reported level, autistic participants had higher scores of sensory sensitivity and responsivity than neurotypicals. The behavioral and neural tasks involved contrast-reversing gratings which became progressively (in)visible as their contrast or spatial frequency evolved. At the behavioral level, autistic participants had higher detection and responsivity thresholds when gratings varied in spatial frequency, but their thresholds did not differ from neurotypicals when gratings varied in contrast. At the neural level, we used fast periodic visual stimulations and electroencephalography to implicitly assess detection thresholds for contrast and spatial frequency, and did not reveal any group difference. Higher self-reported responsivity was associated with higher behavioral responsivity, more intolerance of uncertainty and anxiety, in particular in ASD. At the self-reported level, higher sensitivity was associated with more responsivity in both groups, contrary to the behavioral level where these relationships were not found. These heterogeneous results suggest that sensitivity and responsivity per se are not simply increased in ASD, but may be modulated by other factors such as environmental predictability. Multi-level approaches can shed light on the mechanisms underlying sensory issues in ASD.

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12. Seggie AJR. Using Verbal De-escalation to Manage Children With Autism in the Emergency Department. Pediatric emergency care. 2023.

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13. Shuster CL, Sheinkopf SJ, McGowan EC, Hofheimer JA, O’Shea TM, Carter BS, Helderman JB, Check J, Neal CR, Pastyrnak SL, Smith LM, Loncar C, Dansereau LM, DellaGrotta SA, Marsit C, Lester BM. Neurobehavioral and Medical Correlates of Autism Screening: 2-Year Outcomes for Infants Born Very Preterm. The Journal of pediatrics. 2023: 113536.

OBJECTIVES: To identify neonatal characteristics and 2-year neurodevelopmental outcomes associated with positive screening for risk of autism. STUDY DESIGN: Nine university-affiliated neonatal intensive care units (NICUs) enrolled infants born at <30 weeks of gestation. Infants underwent the NICU Network Neurobehavioral Scale (NNNS) examination before discharge and the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III), the Child Behavior Checklist (CBCL), and the Modified Checklist for Autism in Toddlers, revised with follow-up (M-CHAT-R/F) at two years corrected age. Generalized estimating equations examined associations between M-CHAT-R/F, neurobehavioral test results, and neonatal medical morbidities. RESULTS: At two years corrected age, data were available for 466/744 enrolled infants without cerebral palsy. Infants with hypo-aroused NNNS profiles were more likely to screen M-CHAT-R/F positive (OR=2.76, 95% CI: 1.38, 5.54).). Infants with ≥ 2 medical morbidities also were more likely to screen positive (OR=2.65, 95% CI: 1.27, 5.54).). Children with positive M-CHAT-R/F scores had lower Bayley-III Cognitive (t (451)=5.43, p < .001, d=0.82), Language (t (53.49)= 7.82, p < .001, d=1.18), and Motor (t (451)=7.98, p < .001, d=1.21) composite scores and significantly higher CBCL Internalizing (t (457) -6.19, p < .001, d=-0.93) and Externalizing (t (57.87)=-5.62, p < .001, d=-0.84) scores. CONCLUSIONS: Positive M-CHAT-R/F screens at 2 years corrected age were associated with neonatal medical morbidities and neurobehavioral examinations as well as toddler developmental and behavioral outcomes. These findings demonstrate the potential utility of the M-CHAT-R/F as a global developmental screener in infants born very preterm, regardless of whether there is a later autism diagnosis.

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14. Sravanti L, Kommu JVS, Suswaram S, Yadav AS. Musical preferences of Indian children with autism spectrum disorder and acceptability of music therapy by their families: An exploratory study. Industrial psychiatry journal. 2023; 32(1): 176-86.

BACKGROUND: Music therapy has been in use for children with autism spectrum disorder (ASD) since the 1940s. However, there is limited scientific evidence on its use in the Indian context. AIM: The present study aims to explore musical preferences of children with ASD and their caregivers’ acceptability of music as a form of intervention. MATERIALS AND METHODS: It is a cross-sectional study of 120 subjects diagnosed with ASD as per the Diagnostic and Statistical Manual of Mental Disorders-5 identified by convenience sampling. A semi-structured interview schedule consisting of 25 objective response questions with multiple choices and 11 open-ended questions (pertaining to music and the use of music) was used to explore caregivers’/parents’ thoughts and beliefs. The responses to open-ended questions were collected in narrative mode. A descriptive approach of content analysis was adopted to analyse the data. The data are presented using descriptive statistics. Institutional Ethics Committee’s approval was obtained for conducting the study. RESULTS: Most of the children liked (89.2%, n = 107) music and responded (88.3%, n = 106) actively (listen intently/hum or sing or dance along) to music. Most subjects preferred rhythm (65%, n = 78) over melody (15%, n = 18). While 98.3% (n = 118) of the parents were willing to try music therapy for their child, 61% of them (n = 72) asked follow-up questions like – « Is there available data on it? » (n = 12; 10.2%) and « Will it be worth investing our time and efforts on it? » (n = 60; 50.8%). CONCLUSION: Most of the children including those with auditory sensitivity like music and prefer rhythm over melody. Caregivers possess a positive attitude toward the use of music therapy. However, most of them wish to clarify the scientific basis of the same.

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15. 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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16. Zhang J, Cai F, Lu R, Xing X, Xu L, Wu K, Gong Z, Zhang Q, Zhang Y, Xing M, Song W, Li JD. CNTNAP2 intracellular domain (CICD) generated by γ-secretase cleavage improves autism-related behaviors. Signal transduction and targeted therapy. 2023; 8(1): 219.

As the most prevalent neurodevelopmental disorders in children, autism spectrum disorders (ASD) are characterized by deficits in language development, social interaction, and repetitive behaviors or inflexible interests. Contactin associated protein like 2 (CNTNAP2), encoding a single transmembrane protein (CNTNAP2) with 1331 amino acid residues, is a widely validated ASD-susceptible gene. Cntnap2-deficient mice also show core autism-relevant behaviors, including the social deficits and repetitive behavior. However, the cellular mechanisms underlying dysfunction CNTNAP2 and ASD remain elusive. In this study, we found a motif within the transmembrane domain of CNTNAP2 was highly homologous to the γ-secretase cleavage site of amyloid-β precursor protein (APP), suggesting that CNTNAP2 may undergo proteolytic cleavage. Further biochemical analysis indicated that CNTNAP2 is cleaved by γ-secretase to produce the CNTNAP2 intracellular domain (CICD). Virally delivery of CICD to the medial prefrontal cortex (mPFC) in Cntnap2-deficient (Cntnap2(-/-)) mice normalized the deficit in the ASD-related behaviors, including social deficit and repetitive behaviors. Furthermore, CICD promoted the nuclear translocation of calcium/calmodulin-dependent serine protein kinase (CASK) to regulate the transcription of genes, such as Prader Willi syndrome gene Necdin. Whereas Necdin deficiency led to reduced social interaction in mice, virally expression of Necdin in the mPFC normalized the deficit in social preference of Cntnap2(-/-) mice. Our results thus reveal a critical function of CICD and highlight a role of the CNTNAP2-CASK-Necdin signaling pathway in ASD.

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17. Zhao Y, Wang Y, Meng F, Chen X, Chang T, Huang H, He F, Zheng Y. Altered gut microbiota as potential biomarker biomarkers for autism spectrum disorder in early childhood. Neuroscience. 2023.

Gastrointestinal (GI) disorders are widely recorded in autism spectrum disorder (ASD), and ASD with GI symptoms is a vital subtype of this disease. Growing evidence suggests altered gut microbiota biomarkers in ASD, but little is known about the gut microbiota of individuals with ASD with GI Symptoms, particularly in early childhood. In our study, the gut microbiota of 36 individuals with ASD along with GI symptoms and 40 typically developing (TD) children were compared using 16S rRNA gene sequencing. The microbial diversity and composition were found to differ between the two groups. Compared to TD, the gut microbiota of ASD patients with GI symptoms exhibited decreased alpha diversity and depletion of butyrate-producing bacteria (e.g., Faecalibacterium and Coprococcus). In addition, microbial functional analysis showed abnormality in several gut metabolic models and gut brain models of ASD with GI symptoms, including SCFAshort-chain fatty acid (SCFA) synthesis/degradation and neurotoxin-related p-cresol degradation, which are closely associated with ASD-related behaviors in animal models. Furthermore, we constructed a Support Vector Machine classification model, which robustly discriminated individuals with ASD and GI symptoms from TD individuals in a validation set (AUC = 0.88). Our findings provide a deep insight into the roles of the disturbed gut ecosystem in individuals with ASD and GI symptoms aged 3-6 years. Our classification model supports gut microbiota as a potential biomarker for the early identification of ASD and interventions targeting particular gut-beneficial microbiota.

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