Pubmed du 10/01/20

vendredi 10 janvier 2020

1. Ansari F, Pourjafar H, Tabrizi A, Homayouni A. The Effects of Probiotics and Prebiotics on Mental Disorders : a Review on Depression, Anxiety, Alzheimer, and Autism Spectrum Disorders. Curr Pharm Biotechnol ;2020 (Jan 6)

BACKGROUND : Probiotics and their nutrient sources (prebiotics) has been shown to have positive effects on different organs of the host. The idea of their potential benefits on central nervous systems (CNS) and the incidence of Anxiety, Schizophrenia, Alzheimer, Depression, Autism, and other mental disorders has proposed a new category of medicines called "psychobiotic" which is hoped to be of low-side effect anti-inflammatory, antidepressant, and anti-anxiety constitutes. OBJECTIVE : In the current review, we present valuable insights into the complicated interactions between the GI microbiota (especially in the colon), brain, immune and central nervous systems and provide a summary of the main findings of the effects of pro- and prebiotics on important mental disorders from the potential mechanisms of action to their application in clinical practice. METHODS : Google Scholar, Pub Med, Scopus, and Science Direct databases were searched using following key words :"probiotics", "prebiotics", "mental disorders", "psychological disorders", "depression", "anxiety", "stress", "Alzheimer" and "autism spectrum". The full text of potentially eligible studies was retrieved and assessed in detail by the reviewers. Data were extracted and then summarized from the selected papers. RESULTS : The results of the provided evidence suggest that probiotic and prebiotics might improve mental function via several mechanisms. The beneficial effects of their application in Depression, Anxiety, Alzheimer and autism spectrum diseases has also been supported in clinical studies. CONCLUSION : Pro and prebiotics can improve mental health and psychological function and can be offered as new medicines for common mental disorders however more clinical studies are necessary to conduct regarding the clinical significance of the effects and their bioequivalence or superiority against current treatments.

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2. He Y, Byrge L, Kennedy DP. Nonreplication of functional connectivity differences in autism spectrum disorder across multiple sites and denoising strategies. Hum Brain Mapp ;2020 (Jan 9)

A rapidly growing number of studies on autism spectrum disorder (ASD) have used resting-state fMRI to identify alterations of functional connectivity, with the hope of identifying clinical biomarkers or underlying neural mechanisms. However, results have been largely inconsistent across studies, and there remains a pressing need to determine the primary factors influencing replicability. Here, we used resting-state fMRI data from the Autism Brain Imaging Data Exchange to investigate two potential factors : denoising strategy and data site (which differ in terms of sample, data acquisition, etc.). We examined the similarity of both group-averaged functional connectomes and group-level differences (ASD vs. control) across 33 denoising pipelines and four independently-acquired datasets. The group-averaged connectomes were highly consistent across pipelines (r = 0.92 +/- 0.06) and sites (r = 0.88 +/- 0.02). However, the group differences, while still consistent within site across pipelines (r = 0.76 +/- 0.12), were highly inconsistent across sites regardless of choice of denoising strategies (r = 0.07 +/- 0.04), suggesting lack of replication may be strongly influenced by site and/or cohort differences. Across-site similarity remained low even when considering the data at a large-scale network level or when considering only the most significant edges. We further show through an extensive literature survey that the parameters chosen in the current study (i.e., sample size, age range, preprocessing methods) are quite representative of the published literature. These results highlight the importance of examining replicability in future studies of ASD, and, more generally, call for extra caution when interpreting alterations in functional connectivity across groups of individuals.

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3. Jiao J, Zhang M, Yang P, Huang Y, Hu X, Cai J, Yang C, Si-Tu M, Zhang H, Fu L, Guo K. [Analysis of common genetic variants associated with neuro-synapse development among 60 family trios affected with sporadic autism spectrum disorders]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Jan 10) ;37(1):1-4.

OBJECTIVE : To explore susceptibility genes for autism spectrum disorders (ASD). METHODS : Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related genes associated with neural and neurite triggering were screened for the candidates. RESULTS : A total of 170 common variants were found to be associated with the ASD phenotype. Among these, there was only one high-confidence gene [SHANK2(0.8146)] and four medium-confidence genes [ERBB2(0.1322), LAMC3(0.1117), PPFIA4(0.1059), DISC1(0.1002)]. Twenty-pathways and four biological processes were found to be statistically significant by pathway enrichment analysis, which included neuron projection morphogenesis (GO : 0048812), regulation of neuroblast proliferation (GO : 1902692), modulation of excitatory postsynaptic potential (GO : 0098815), and dendrite morphogenesis (GO : 0048813). Twenty-one genes were found to be closely associated with neurological and neurite triggering, among which only SHANK2, ERBB2, and DISC1 had above-medium confidence correlation scores with the ASD phenotypes. CONCLUSION : Abnormal neuron projection morphogenesis (GO : 0048812) may be closely related to the occurrence of ASD. SHANK2, ERBB2, and DISC1 are susceptibility genes for ASD.

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4. King C, Merrick H, Le Couteur A. How should we support young people with ASD and mental health problems as they navigate the transition to adult life including access to adult healthcare services. Epidemiol Psychiatr Sci ;2020 (Jan 9) ;29:e90.

For young people with autism spectrum disorder (ASD), the transition from childhood to adulthood especially for those with additional mental health problems can be challenging. Increasing numbers of young people attending child and adolescent mental health services (CAMHS) have a recognised diagnosis of ASD. What are the outcomes of these young people when they are discharged from CAMHS and how best can services support their needs ? In this editorial we consider the emerging literature on transition for young people with long-term conditions and in particular those with ASD. Longer term studies suggest that the outcomes for individuals with ASD across the ability range is mostly poor and that healthcare transfer has generally not been managed well, with service users often reporting a lack of appropriate types of support. Encouragingly there is an increasing awareness of the need to support young people with long-term conditions as they negotiate the many developmental tasks of transition to adulthood. However, less is known about the experiences and aspirations of autistic individuals of all abilities as they transition to adulthood. This knowledge can inform a more nuanced approach to identifying developmentally appropriate outcomes. Recent studies with cognitively able young people with ASD, highlight some features in common with young people with long-term conditions but also the importance of identifying ways to foster underlying skills and the ability of young people with ASD to develop and maintain relationships. Child-focussed and adult-orientated healthcare services need to work directly with autistic individuals and their support networks to facilitate successful engagement with services and enable adults to manage their mental health needs. There is an urgent need to investigate the implementation and effectiveness of research and clinical guideline recommendations that aim to increase wellbeing, health self-efficacy and improve the mental health outcomes for autistic adults.

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5. Kovtun AS, Averina OV, Alekseeva MG, Danilenko VN. Antibiotic Resistance Genes in the Gut Microbiota of Children with Autistic Spectrum Disorder as Possible Predictors of the Disease. Microb Drug Resist ;2020 (Jan 9)

The gut microbiota (GM), which contains thousands of bacterial species, is a reservoir of antibiotic resistance genes (ARGs) called resistome. Early life exposure to antibiotics alters significantly the composition and function of the gut microbiota of children, which may trigger symptoms of autism spectrum disorder (ASD). This is because the GM plays an important role in the bidirectional communication between the gut and the brain and influences the brain normal functioning through multiple pathways. The goal of this article is to study the distribution of ARGs in the GM of 3- to 5-year-old healthy children and children with ASD living in Moscow, Russia. The metagenomic analysis of samples from both groups revealed differences in the signatures between them. The signatures consisted of the bacterial genera and aminoglycoside, beta-lactam, macrolide, and tetracycline resistance genes that they harbored. Our results show an increase in ARGs in the resistome of the GM of children with ASD. These findings emphasize the negative influence of early-life antibiotic therapy. We found three ARGs, aac(6’)-aph(2’’), cepA-49, and tet(40), which could serve as markers of ASD. The additional functions carried out by the enzymes, encoded by these genes, are being discussed.

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6. Lecheler M, Lasser J, Vaughan PW, Leal J, Ordetx K, Bischofberger M. A Matter of Perspective : An Exploratory Study of a Theory of Mind Autism Intervention for Adolescents. Psychol Rep ;2020 (Jan 10):33294119898120.

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7. Mobasheri L, Moossavi SZ, Esmaeili A, Mohammadoo-Khorasani M, Sarab GA. Association between vitamin D receptor gene FokI and TaqI variants with autism spectrum disorder predisposition in Iranian population. Gene ;2020 (Jan 10) ;723:144133.

BACKGROUND AND AIM : Autism spectrum disorder (ASD) is one of the neurodevelopmental and cognitive conditions that involves 1 in 160 children around the world. Several studies showed that there is a relationship between vitamin D receptor (VDR) gene polymorphisms with the neurodevelopmental behavioral disorders. In the current study, we aimed to highlight the association of VDR gene polymorphisms (FokI and TaqI) with the risk of autism in Birjand population. MATERIAL AND METHODS : In this case-control study eighty-one patients recognized with ASD and one hundred-eight healthy controls were recruited to the study from 2017 to 2018. Genotyping was carried out by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) technique for all subjects. RESULTS : Calculated odds ratio and P-value for the alleles of VDR gene FokI and TaqI variants between autistic patients and controls did not show a significant difference (P>0.05). However, calculated homozygous recessive (tt) for TaqI polymorphism was statistically significant (P=0.015) in control group and there was also statistically meaningful difference in both case and control groups in ft haplotype (P=0.04). CONCLUSION : These results provide preliminary evidence that genetic variants of the VDR gene (FokI and TaqI) might have a possible reduced risk of ASD occurrence in children. The additional examination is needed to acquire more decisive and precise results in this area.

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8. Raggi F, Cangelosi D, Becherini P, Blengio F, Morini M, Acquaviva M, Belli ML, Panizzon G, Cervo G, Varesio L, Eva A, Bosco MC. Transcriptome analysis defines myocardium gene signatures in children with ToF and ASD and reveals disease-specific molecular reprogramming in response to surgery with cardiopulmonary bypass. J Transl Med ;2020 (Jan 10) ;18(1):21.

BACKGROUND : Tetralogy of Fallot (ToF) and Atrial Septal Defects (ASD) are the most common types of congenital heart diseases and a major cause of childhood morbidity and mortality. Cardiopulmonary bypass (CPB) is used during corrective cardiac surgery to support circulation and heart stabilization. However, this procedure triggers systemic inflammatory and stress response and consequent increased risk of postoperative complications. The aim of this study was to define the molecular bases of ToF and ASD pathogenesis and response to CPB and identify new potential biomarkers. METHODS : Comparative transcriptome analysis of right atrium specimens collected from 10 ToF and 10 ASD patients was conducted before (Pre-CPB) and after (Post-CPB) corrective surgery. Total RNA isolated from each sample was individually hybridized on Affymetrix HG-U133 Plus Array Strips containing 38,500 unique human genes. Differences in the gene expression profiles and functional enrichment/network analyses were assessed using bioinformatic tools. qRT-PCR analysis was used to validate gene modulation. RESULTS : Pre-CPB samples showed significant differential expression of a total of 72 genes, 28 of which were overexpressed in ToF and 44 in ASD. According to Gene Ontology annotation, the mostly enriched biological processes were represented by matrix organization and cell adhesion in ToF and by muscle development and contractility in ASD specimens. GSEA highlighted the specific enrichment of hypoxia gene sets in ToF samples, pointing to a role for hypoxia in disease pathogenesis. The post-CPB myocardium exhibited significant alterations in the expression profile of genes related to transcription regulation, growth/apoptosis, inflammation, adhesion/matrix organization, and oxidative stress. Among them, only 70 were common to the two disease groups, whereas 110 and 24 were unique in ToF and ASD, respectively. Multiple functional interactions among differentially expressed gene products were predicted by network analysis. Interestingly, gene expression changes in ASD samples followed a consensus hypoxia profile. CONCLUSION : Our results provide a comprehensive view of gene reprogramming in right atrium tissues of ToF and ASD patients before and after CPB, defining specific molecular pathways underlying disease pathophysiology and myocardium response to CPB. These findings have potential translational value because they identify new candidate prognostic markers and targets for tailored cardioprotective post-surgical therapies.

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9. Reynolds AM, Connolly HV, Katz T, Goldman SE, Weiss SK, Halbower AC, Shui AM, Macklin EA, Hyman SL, Malow BA. Randomized, Placebo-Controlled Trial of Ferrous Sulfate to Treat Insomnia in Children With Autism Spectrum Disorders. Pediatr Neurol ;2019 (Aug 2)

BACKGROUND : Insomnia and low iron stores are common in children with autism spectrum disorders, and low iron stores have been associated with sleep disturbance. METHODS : We performed a randomized placebo-controlled trial of oral ferrous sulfate to treat insomnia in children with autism spectrum disorders and low normal ferritin levels. Twenty participants who met inclusion criteria and whose insomnia did not respond to sleep education were randomized to 3 mg/kg/day of ferrous sulfate (n = 9) or placebo (n = 11) for three months. RESULTS : Iron supplementation was well tolerated, and no serious adverse events were reported. Iron supplementation improved iron status (+18.4 ng/mL active versus -1.6 ng/mL placebo, P = 0.044) but did not significantly improve the primary outcome measures of sleep onset latency (-11.0 minutes versus placebo, 95% confidence interval -28.4 to 6.4 minutes, P = 0.22) and wake time after sleep onset (-7.7 minutes versus placebo, 95% confidence interval -22.1 to 6.6 min, P = 0.29) as measured by actigraphy. Iron supplementation was associated with improvement in the overall severity score from the Sleep Clinical Global Impression Scale (-1.5 points versus placebo, P = 0.047). Changes in measures of daytime behavior did not differ between groups. CONCLUSION : This trial demonstrated no improvement in primary outcome measures of insomnia in subjects treated with ferrous sulfate compared with placebo. Interpretation was limited by low enrollment.

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10. Samanta P, Mishra DP, Panigrahi A, Mishra J, Senapati LK, Ravan JR. Sleep disturbances and associated factors among 2-6-year-old male children with autism in Bhubaneswar, India. Sleep Med ;2019 (Nov 30) ;67:77-82.

BACKGROUND : Sleep disturbances are considered one of the significant comorbidities of autism ; they negatively impact the quality of life of children with autism as well as their parents or caregivers. This study aimed to determine the prevalence of sleep disturbances in Indian male children diagnosed with autism and examine the association of lifestyle behaviors and socio-demographic characteristics with sleep problems. METHODS : The present cross-sectional study was conducted in Bhubaneswar city in the year 2018, involving mothers of 100 male children with autism aged 2-6 years. We used a children’s sleep habits questionnaire (CSHQ) to evaluate the sleep problems in children with autism and a semi-structured schedule for gathering information regarding lifestyle behaviors and socio-demographic characteristics. RESULTS : The overall prevalence of parent-reported sleep problems was 93% ; the most prevalent CSHQ subscales were : bedtime resistance (95%), sleep anxiety (85%), and sleep duration (81%). The mean ISAA score of the study sample was 133.89 +/- 19.59, where 12%, 71%, and 17% of the children had mild, moderate, and severe autism, respectively. Multiple linear regression analysis revealed that variables such as autism severity, screen time, caffeine intake, physical activity, maternal age, child’s age, and birth weight were significantly associated with the CSHQ subscales. CONCLUSION : The prevalence of parent-reported sleep problems is very high among the male children with autism in Bhubaneswar, India, and there is an urgent need for interventional measures for appropriate management of this problem among these children.

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11. Schreck KA, Richdale AL. Sleep problems, behavior, and psychopathology in autism : inter-relationships across the lifespan. Curr Opin Psychol ;2019 (Dec 17) ;34:105-111.

Across the lifespan, autistic individuals experience symptomatology concomitant with their diagnosis including increased rates of daytime behavior (e.g. stereotypy, self-injurious behavior, and aggression) and psychopathology (e.g. attention deficit hyperactivity disorder, anxiety, and depression). In addition to this inter-related behavior and psychopathology, autistic children, adolescents, and adults consistently exhibit a wide variety of sleep problems (e.g. insomnia, reduced total sleep time, increased sleep onset latency, night waking, etc.). Early research and current research continue to describe the inter-relatedness among these daytime behaviors, psychopathology, and sleep problems for autistic individuals. Although descriptions of these issues appear in research, only preliminary suggestions exist for the causes and contributors toward the sleep problems or the interactions of sleep problems with psychopathology, although current research suggests a possible biopsychosocial interaction.

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12. Taylor LJ, Charman T, Howlin P, Slonims V, Green J. Brief Report : Associations Between Preverbal Social Communication Skills, Language and Symptom Severity in Children with Autism : An Investigation Using the Early Sociocognitive Battery. J Autism Dev Disord ;2020 (Jan 10)

We investigated the early sociocognitive battery (ESB), a novel measure of preverbal social communication skills, in children with autism participating in the Paediatric Autism Communication Trial-Generalised (PACT-G). The associations between ESB scores, language and autism symptoms were assessed in 249 children aged 2-11 years. The results show that ESB subscale scores (social responsiveness, joint attention and symbolic comprehension) were significantly associated with concurrent autism symptoms and receptive and expressive language levels. The pattern of association between the ESB subscale scores differed between the ADOS-2 symptom domains and expressive and receptive language. These findings indicate the potential utility of the ESB as a measure of preverbal social communication in children with autism.

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13. Vibert BA, Dufek S, Klein CB, Choi YB, Winter J, Lord C, Kim SH. Quantifying Caregiver Change Across Early Autism Interventions Using the Measure of NDBI Strategy Implementation : Caregiver Change (MONSI-CC). J Autism Dev Disord ;2020 (Jan 10)

This study aimed to provide initial validity and reliability of the Measure of NDBI Strategy Implementation-Caregiver Change (MONSI-CC), a novel measure that captures changes in caregivers’ implementation of NDBI strategies during early intervention. The MONSI-CC was applied to 119 observations of 43 caregiver-child dyads of preschoolers with autism spectrum disorders (ASD). The MONSI-CC showed high inter-rater and test-retest reliability and captured significant improvements in caregivers’ implementation of NDBI strategies. Significant associations between improvements in caregiver NDBI implementation and improvements in the child’s ASD symptoms also emerged. Our work shows promising evidence for the utility of the MONSI-CC to evaluate implementation of NDBI strategies by caregivers as a mediating and moderating factor for treatment effects on children with ASD.

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14. Wang Q, Hoi SP, Wang Y, Lam CM, Fang F, Yi L. Gaze response to others’ gaze following in children with and without autism. J Abnorm Psychol ;2020 (Jan 9)

Joint attention (JA) is an important developmental precursor to overall social and cognitive abilities. Most previous studies on JA have focused on participants’ passive responses to others’ gaze directions. Using a computer-based gaze-contingent eye-tracking task, we explored time-course differences in the reciprocity of social gaze patterns in children with autism spectrum disorder (ASD) and in typically developing (TD) children. Specifically, we explored ASD and TD children’s gaze responses to others’ gaze following. In a trial, children first looked at one of two objects, and then a virtual face followed the children’s gaze toward the object that children looked at (congruent condition), looked toward another object instead (incongruent condition), or closed its eyes (closed-eye gaze condition). Eye movements were recorded during the experiment. We found that (a) TD children, but not children with ASD, showed different object-looking times across conditions, suggesting their sensitivity to virtual faces’ following their gaze ; (b) children with ASD looked at eyes less than TD children ; and (c) eye-looking time improved subsequent object-looking time in TD children, whereas it interfered with object-looking time in children with ASD. This study contributes to an understanding of the process of a more complex and reciprocal JA in TD children and the impairments of JA in children with ASD. Furthermore, it provides data relevant to understanding how JA may influence information processing and which aspects of JA are problematic for children with ASD. (PsycINFO Database Record (c) 2020 APA, all rights reserved).

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15. Wang Q, Li Q, Xu Q, Liu Y, Yuan H. [Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Jan 10) ;37(1):52-56.

OBJECTIVE : To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication. METHODS : Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members. RESULTS : A 5.7 Mb duplication at 17q25.3—>qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal. CONCLUSION : Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.

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16. Zhuang J, Wang Y, Zeng S, Wang J, Jiang Y. [Clinical and genetic study of a child with 15q11.2 microduplication]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Jan 10) ;37(1):64-66.

OBJECTIVE : To explore the genetic basis of a child with developmental delay and intellectual disability. METHODS : Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis. RESULTS : No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus. CONCLUSION : 15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.

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