Pubmed du 16/09/19

lundi 16 septembre 2019

1. Bahado-Singh RO, Vishweswaraiah S, Aydas B, Mishra NK, Yilmaz A, Guda C, Radhakrishna U. Artificial intelligence analysis of Newborn Leucocyte epigenomic markers for the Prediction of Autism. Brain Res ;2019 (Sep 12):146457.

A great diversity of factors contribute to the pathogenesis of Autism and Autism spectrum disorder (ASD). Early detection is known to correlate with improved long term outcomes. There is therefore intense scientific interest in the pathogenesis of and early prediction of autism. Recent reports suggest that epigenetic alterations may play a vital role in disease pathophysiology. We conducted an epigenome-wide analysis of newborn leucocyte (blood spot) DNA in autism as defined at the time of sample collection. Our goal was to investigate the epigenetic basis of autism and identification of early biomarkers for disease prediction. Infinium HumanMethylation450 BeadChip assay was performed to measure DNA methylation level in 14 autism cases and 10 controls. The accuracy of cytosine methylation for autism detection using six different Machine Learning/Artificial Intelligence (AI) approaches including Deep-Learning (DL) was determined. Ingenuity Pathway Analysis (IPA) was further used to interrogate autism pathogenesis by identifying over-represented biological pathways. We found highly significant dysregulation of CpG methylation in 230 loci (249 genes). DL yielded an AUC (95% CI)=1.00 (0.80-1.00) with 97.5% sensitivity and 100.0% specificity for autism detection. Epigenetic dysregulation was identified in several important candidate genes including some previously linked to autism development e.g. : EIF4E, FYN, SHANK1, VIM, LMX1B, GABRB1, SDHAP3 and PACS2. We observed significant enrichment of molecular pathways involved in neuroinflammation signaling, synaptic long term potentiation, serotonin degradation, mTOR signaling and signaling by Rho-Family GTPases. Our findings suggest significant epigenetic role in autism development and epigenetic markers appeared highly accurate for newborn prediction.

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2. Burghoorn F, Dingemanse M, van Lier R, van Leeuwen TM. The Relation Between Autistic Traits, the Degree of Synaesthesia, and Local/Global Visual Perception. J Autism Dev Disord ;2019 (Sep 14)

Synaesthesia is highly prevalent in autism spectrum disorder. We assessed the relation between the degree of autistic traits (Autism Spectrum Quotient, AQ) and the degree of synaesthesia in a neurotypical population, and hypothesized both are related to a local bias in visual perception. A positive correlation between total AQ scores and the degree of synaesthesia was found, extending previous studies in clinical populations. Consistent with our hypothesis, AQ-attention to detail scores were related to increased performance on an Embedded Figures Task and reduced susceptibility to visual illusions. We found no relation between autistic traits and performance on a motion coherence task, and no relation between synaesthesia and local visual perception. Possibly, this relation is reserved for supra-threshold synaesthetes.

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3. Foss-Feig JH. Looking Under the Hood of Convergent Behavioral Deficits in Schizophrenia and Autism. Biol Psychiatry ;2019 (Oct 1) ;86(7):e21-e23.

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4. Markova N. Dysbiotic microbiota in autistic children and their mothers : persistence of fungal and bacterial wall-deficient L-form variants in blood. Sci Rep ;2019 (Sep 16) ;9(1):13401.

Based on our hypothesis for existing microbiota of wall-deficient variants (L-forms) in human blood, we created an innovative methodology, which allowed for the development of L-form populations from blood of all investigated people. In contrast to healthy controls, blood L-forms from autistic children and their mothers converted under appropriate conditions of cultivation into detectable opportunistic bacteria and fungi, small a, Cyrillic process demonstrated by light and transmission electron microscopy. It can be distinguished into two types of states - "eubiotic" blood microbiota in healthy individuals, and "dysbiotic" in autistic children and their mothers. Remarkably, the unifying finding for autistic children and their mothers was the presence in blood of wall-free variants from life-cycle of filamentous fungi. Increased specific IgG, IgM and IgA, together with typical mold growth were a decisive argument for proven presence of Aspergillus fumigatus in almost all of the autistic children. As it was demonstrated in our previous study, filterable L-forms can be transmitted by vertical pathway from mother to child before birth. Thus, it can be suggested that autistic children may be born already colonized with fungi, while a "silent aspergillosis" could contribute or even be a leading cause for neurodevelopmental disorders in the early childhood.

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5. Oien RA, Cicchetti DV, Nordahl-Hansen A, Schjolberg S. A Commentary to "Toddler Screening for Autism Spectrum Disorder : A Meta-Analysis of Diagnostic Accuracy". J Autism Dev Disord ;2019 (Sep 14)

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6. Park J, Bouck EC, Smith JP, 3rd. Using a Virtual Manipulative Intervention Package to Support Maintenance in Teaching Subtraction with Regrouping to Students with Developmental Disabilities. J Autism Dev Disord ;2019 (Sep 14)

To live independently, it is critical that students with disabilities maintain the basic mathematical skills they have acquired so they may apply these skills in daily life. To support maintenance of mathematical skills among students with developmental disabilities, the researchers used a multiple probe across participants design to examine the effectiveness of the VRA instructional sequence with fading support in teaching subtraction with regrouping to four students with developmental disabilities. A functional relation was found between the VRA instructional sequence with fading support and students’ accuracy in solving the problems. Students also maintained the skill up to 6 weeks after the intervention.

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7. Schofield D, Zeppel MJB, Tanton R, Veerman JL, Kelly SJ, Passey ME, Shrestha RN. Intellectual disability and autism : socioeconomic impacts of informal caring, projected to 2030. Br J Psychiatry ;2019 (Sep 16):1-7.

BACKGROUND : Intellectual disability and autism spectrum disorder (ASD) influence the interactions of a person with their environment and generate economic and socioeconomic costs for the person, their family and society. AIMS : To estimate costs of lost workforce participation due to informal caring for people with intellectual disability or autism spectrum disorders by estimating lost income to individuals, lost taxation payments to federal government and increased welfare payments. METHOD : We used a microsimulation model based on the Australian Bureau of Statistics’ Surveys of Disability, Ageing and Carers (population surveys of people aged 15-64), and projected costs of caring from 2015 in 5-year intervals to 2030. RESULTS : The model estimated that informal carers of people with intellectual disability and/or ASD in Australia had aggregated lost income of AU$310 million, lost taxation of AU$100 million and increased welfare payments of AU$204 million in 2015. These are projected to increase to AU$432 million, AU$129 million and AU$254 million for income, taxation, and welfare respectively by 2030. The income gap of carers for people with intellectual disability and/or ASD is estimated to increase by 2030, meaning more financial stress for carers. CONCLUSIONS : Informal carers of people with intellectual disability and/or ASD experience significant loss of income, leading to increased welfare payments and reduced taxation revenue for governments ; these are all projected to increase. Strategic policies supporting informal carers wishing to return to work could improve the financial and psychological impact of having a family member with intellectual disability and/or ASD. DECLARATION OF INTEREST : None.

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8. Strunecka A, Strunecky O. Chronic Fluoride Exposure and the Risk of Autism Spectrum Disorder. Int J Environ Res Public Health ;2019 (Sep 16) ;16(18)

The continuous rise of autism spectrum disorder (ASD) prevalent in the past few decades is causing an increase in public health and socioeconomic concern. A consensus suggests the involvement of both genetic and environmental factors in the ASD etiopathogenesis. Fluoride (F) is rarely recognized among the environmental risk factors of ASD, since the neurotoxic effects of F are not generally accepted. Our review aims to provide evidence of F neurotoxicity. We assess the risk of chronic F exposure in the ASD etiopathology and investigate the role of metabolic and mitochondrial dysfunction, oxidative stress and inflammation, immunoexcitotoxicity, and decreased melatonin levels. These symptoms have been observed both after chronic F exposure as well as in ASD. Moreover, we show that F in synergistic interactions with aluminum’s free metal cation (Al(3+)) can reinforce the pathological symptoms of ASD. This reinforcement takes place at concentrations several times lower than when acting alone. A high ASD prevalence has been reported from countries with water fluoridation as well as from endemic fluorosis areas. We suggest focusing the ASD prevention on the reduction of the F and Al(3+) burdens from daily life.

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