Pubmed du 12/01/20

dimanche 12 janvier 2020

1. Fombonne E, Goin-Kochel RP, O’Roak BJ. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine ;2020 (Jan 7)

BACKGROUND : Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of parents who believe in a causal role of vaccines for autism spectrum disorder (ASD) in their child may help targeting educational activities and improve adherence to the immunization schedule. OBJECTIVES : To compare caregivers of children with ASD who agree or disagree that vaccines play an etiological role in autism for 1) socio-demographics characteristics and 2) developmental and clinical profiles of their children. METHODS : Data from 16,525 participants with ASD under age 18 were obtained from SPARK, a national research cohort started in 2016. Caregivers completed questionnaires at registration that included questions on beliefs about the etiologic role of childhood immunizations and other factors in ASD. Data were available about family socio-demographic characteristics, first symptoms of autism, developmental regression, co-occurring psychiatric disorders, seizures, and current levels of functioning. RESULTS : Participants with ASD were 80.4% male with a mean age of 8.1years (SD=4.1). Overall, 16.5% of caregivers endorsed immunizations as perceived causes of autism. Compared to caregivers who disagreed with vaccines as a cause for ASD, those who believed in vaccine causation came disproportionately from ethnic minority, less educated, and less wealthy backgrounds. More often their children had experienced developmental regression involving language and other skills, were diagnosed earlier, had lost skills during the second year of life, and had worse language, adaptive, and cognitive outcomes. CONCLUSION : One in six caregivers who participate in a national research cohort believe that child immunizations could be a cause of autism in their child. Parent social background (non-White, less educated) and child developmental features (regression in second year, poorer language skills, and worse adaptive outcomes) index caregivers who are more likely to harbor these beliefs and could benefit from targeted educational activities.

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2. Kurochkin I, Khrameeva E, Tkachev A, Stepanova V, Vanyushkina A, Stekolshchikova E, Li Q, Zubkov D, Shichkova P, Halene T, Willmitzer L, Giavalisco P, Akbarian S, Khaitovich P. Metabolome signature of autism in the human prefrontal cortex. Commun Biol ;2019 (Jun 21) ;2(1):234.

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with yet incompletely uncovered molecular determinants. Alterations in the abundance of low molecular weight compounds (metabolites) in ASD could add to our understanding of the disease. Indeed, such alterations take place in the urine, plasma and cerebellum of ASD individuals. In this work, we investigated mass-spectrometric signal intensities of 1,366 metabolites in the prefrontal cortex grey matter of 32 ASD and 40 control individuals. 15% of these metabolites showed significantly different intensities in ASD and clustered in 16 metabolic pathways. Of them, ten pathways were altered in urine and blood of ASD individuals (Fisher test, p < 0.05), opening an opportunity for the design of new diagnostic instruments. Furthermore, metabolic measurements conducted in 40 chimpanzees and 40 macaques showed an excess of metabolite intensity differences unique to humans, supporting the hypothesized disruption of evolutionary novel cortical mechanisms in ASD.

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3. 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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4. 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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5. 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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6. Warrier V, Toro R, Won H, Leblond CS, Cliquet F, Delorme R, De Witte W, Bralten J, Chakrabarti B, Borglum AD, Grove J, Poelmans G, Hinds DA, Bourgeron T, Baron-Cohen S. Social and non-social autism symptoms and trait domains are genetically dissociable. Commun Biol ;2019 (Sep 3) ;2(1):328.

The core diagnostic criteria for autism comprise two symptom domains - social and communication difficulties, and unusually repetitive and restricted behaviour, interests and activities. There is some evidence to suggest that these two domains are dissociable, though this hypothesis has not yet been tested using molecular genetics. We test this using a genome-wide association study (N = 51,564) of a non-social trait related to autism, systemising, defined as the drive to analyse and build systems. We demonstrate that systemising is heritable and genetically correlated with autism. In contrast, we do not identify significant genetic correlations between social autistic traits and systemising. Supporting this, polygenic scores for systemising are significantly and positively associated with restricted and repetitive behaviour but not with social difficulties in autistic individuals. These findings strongly suggest that the two core domains of autism are genetically dissociable, and point at how to fractionate the genetics of autism.

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7. Zuo XN. Editorial : Mapping the Miswired Connectome in Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry ;2020 (Jan 8)

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