Pubmed du 26/03/20

jeudi 26 mars 2020

1. Averina OV, Kovtun AS, Polyakova SI, Savilova AM, Rebrikov DV, Danilenko VN. The bacterial neurometabolic signature of the gut microbiota of young children with autism spectrum disorders. Journal of medical microbiology. 2020.

Introduction. The human gut microbiota is currently seen as an important factor that can promote autism spectrum disorder (ASD) development in children.Aim. This study aimed to detect differences in the taxonomic composition and content of bacterial genes encoding key enzymes involved in the metabolism of neuroactive biomarker compounds in the metagenomes of gut microbiota of children with ASD and neurotypical children.Methodology. A whole metagenome sequencing approach was used to obtain metagenomic data on faecal specimens of 36 children with ASD and 21 healthy neurotypical children of 3-5 years old. Taxonomic analysis was conducted using MetaPhlAn2. The developed bioinformatics algorithm and created catalogue of the orthologues were applied to identify bacterial genes of neuroactive compounds in the metagenomes. For the identification of metagenomic signatures of children with ASD, Wilcoxon’s test and adjustment for multiple comparisons were used.Results. Statistically significant differences with decreases in average abundance in the microbiota of ASD children were found for the genera Barnesiella and Parabacteroides and species Alistipes putredinis, B. caccae, Bacteroides intestinihominis, Eubacterium rectale, Parabacteroides distasonis and Ruminococcus lactaris. Average relative abundances of the detected genes and neurometabolic signature approach did not reveal many significant differences in the metagenomes of the groups that were compared. We noted decreases in the abundance of genes linked to production of GABA, melatonine and butyric acid in the ASD metagenomes.Conclusion. For the first time, the neurometabolic signature of the gut microbiota of young children with ASD is presented. The data can help to provide a comparative assessment of the transcriptional and metabolomic activity of the identified genes.

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2. Barros DM. Online dating, reproductive success and the rise autism spectrum disorder prevalence. Med Hypotheses. 2020 ; 140 : 109679.

The increase in the prevalence of autism spectrum disorder (ASD) has not yet been adequately explained. There is evidence that when people with a specific personality profile, including strong systematic thinking, attention to detail and lesser social communication skills, though not falling on the autistic spectrum (AS), are more likely to have children with autism, especially when both parents have such characteristics. The use of new technologies such as social networks facilitates the communication of these persons because it does not rely on skills in which they are deficient. We hypothesize that the massive use of such technologies for the establishment of romantic relationships increases the reproductive success of this population contributing to the increase in the prevalence of autism spectrum disorder.

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3. Brosnan M. An Exploratory Study of a Dimensional Assessment of the Diagnostic Criteria for Autism. J Autism Dev Disord. 2020.

Prevalence rates of autism based upon child samples have shown a consistent increase over the past three decades, suggesting that many autistic adults are undiagnosed. Adult diagnostic pathways typically are initiated with measures of autistic-like traits. Whilst autistic-like traits represent a continuous dimension across the general population, autism is a categorical diagnosis and the relationship between the two is unclear. A self-report dimensional reflection upon the two diagnostic criteria for autism was developed and reflected upon by 1076 participants embedded within two online surveys. Those with an informal (self) diagnosis of autism self-reported comparable social difficulties but fewer restricted and repetitive behaviour difficulties than those with a formal diagnosis of autism. The new items also significantly correlated with autistic-like traits.

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4. Cantin-Garside KD, Kong Z, White SW, Antezana L, Kim S, Nussbaum MA. Detecting and Classifying Self-injurious Behavior in Autism Spectrum Disorder Using Machine Learning Techniques. J Autism Dev Disord. 2020.

Traditional self-injurious behavior (SIB) management can place compliance demands on the caregiver and have low ecological validity and accuracy. To support an SIB monitoring system for autism spectrum disorder (ASD), we evaluated machine learning methods for detecting and distinguishing diverse SIB types. SIB episodes were captured with body-worn accelerometers from children with ASD and SIB. The highest detection accuracy was found with k-nearest neighbors and support vector machines (up to 99.1% for individuals and 94.6% for grouped participants), and classification efficiency was quite high (offline processing at 0.1 ms/observation). Our results provide an initial step toward creating a continuous and objective smart SIB monitoring system, which could in turn facilitate the future care of a pervasive concern in ASD.

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5. Christopher K, Bishop S, Carpenter LA, Warren Z, Kanne S. The Implications of Parent-Reported Emotional and Behavioral Problems on the Modified Checklist for Autism in Toddlers. J Autism Dev Disord. 2020.

Studies have shown that Autism Spectrum Disorder (ASD) screening and diagnostic instruments may be affected by the presence of emotional and behavior problems (EBPs). This study assessed the impact of EBPs on the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F). Participants included 290 children, 18-48 months of age, referred for ASD-related concerns. Those diagnosed with ASD had significantly lower externalizing EBPs compared to those who were not diagnosed with ASD. More externalizing symptoms and younger age were significantly predictive of an M-CHAT-R/F final score. Sensitivity and specificity was impacted by the age of the child. These results suggest that combining measures that assess EBPs and autism core symptoms may improve accuracy in this referred population.

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6. D’Antoni S, de Bari L, Valenti D, Borro M, Bonaccorso CM, Simmaco M, Vacca RA, Catania MV. Aberrant mitochondrial bioenergetics in the cerebral cortex of the Fmr1 knockout mouse model of fragile X syndrome. Biological chemistry. 2020 ; 401(4) : 497-503.

Impaired energy metabolism may play a role in the pathogenesis of neurodevelopmental disorders including fragile X syndrome (FXS). We checked brain energy status and some aspects of cell bioenergetics, namely the activity of key glycolytic enzymes, glycerol-3-phosphate shuttle and mitochondrial respiratory chain (MRC) complexes, in the cerebral cortex of the Fmr1 knockout (KO) mouse model of FXS. We found that, despite a hyperactivation of MRC complexes, adenosine triphosphate (ATP) production via mitochondrial oxidative phosphorylation (OXPHOS) is compromised, resulting in brain energy impairment in juvenile and late-adult Fmr1 KO mice. Thus, an altered mitochondrial energy metabolism may contribute to neurological impairment in FXS.

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7. Kilburn TR, Sorensen MJ, Thastum M, Rapee RM, Rask CU, Arendt KB, Carlsen AH, Thomsen PH. Group Based Cognitive Behavioural Therapy for Anxiety in Children with Autism Spectrum Disorder : A Randomised Controlled Trial in a General Child Psychiatric Hospital Setting. J Autism Dev Disord. 2020.

Cognitive Behavioural Therapy (CBT) programs adapted to children with Autism Spectrum Disorder (ASD) effectively reduce anxiety when run in university clinics. Forty-nine children aged 8-14 years participated in a waitlist controlled study in a general child psychiatric hospital setting. Post-treatment 30% of the children were free of their primary anxiety diagnoses and 5% were free of all anxiety diagnoses. No statistically significant difference between the two trial conditions were found on primary outcomes. However, statistically significant differences were found on secondary outcomes indicating clinically meaningful treatment responses. Together with high program satisfaction this study shows the CBT program to be feasible and potentially efficacious in treating anxiety in children with ASD in a general child psychiatric hospital setting.

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8. Li J, Lin X, Wang M, Hu Y, Xue K, Gu S, Lv L, Huang S, Xie W. Potential role of genomic imprinted genes and brain developmental related genes in autism. BMC medical genomics. 2020 ; 13(1) : 54.

BACKGROUND : Autism is a complex disease involving both environmental and genetic factors. Recent efforts have implicated the correlation of genomic imprinting and brain development in autism, however the pathogenesis of autism is not completely clear. Here, we used bioinformatic tools to provide a comprehensive analysis of the autism-related genes, genomic imprinted genes and the spatially and temporally differentially expressed genes of human brain, aiming to explore the relationship between autism, brain development and genomic imprinting. METHODS : This study analyzed the distribution correlation between autism-related genes and imprinted genes on chromosomes using sliding windows and statistical methods. The normal brains’ gene expression microarray data were reanalyzed to construct a spatio-temporal coordinate system of gene expression during brain development. Finally, we intersected the autism-related genes, imprinted genes and brain spatio-temporally differentially expressed genes for further analysis to find the major biological processes that these genes involved. RESULTS : We found a positive correlation between the autism-related genes’ and imprinted genes’ distribution on chromosomes. Through the analysis of the normal brain microarray data, we constructed a spatio-temporal coordinate system of gene expression during human brain development, and obtained 13 genes that are differentially expressed in the process of brain development, which are both autism-related genes and imprinted genes. Furthermore, enrichment analysis illustrated that these genes are mainly involved in the biological processes, such as gamma-aminobutyric acid signaling pathway, neuron recognition, learning or memory, and regulation of synaptic transmission. Bioinformatic analysis implied that imprinted genes regulate the development and behavior of the brain. And its own mutation or changes in the epigenetic modification state of the imprinted control region could lead to some diseases, indicating that imprinted genes and brain development play an important role in diagnosis and prognosis of autism. CONCLUSION : This study systematically correlates brain development and genomic imprinting with autism, which provides a new perspective for the study of genetic mechanisms of autism, and selected the potential candidate biomarkers for early diagnosis of autism in clinic.

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9. Lory C, Kadlaskar G, McNally Keehn R, Francis AL, Keehn B. Brief Report : Reduced Heart Rate Variability in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

Dysregulation of the autonomic nervous system (ANS), which can be indexed by heart rate variability (HRV), has been posited to contribute to core features of autism spectrum disorder (ASD). However, the relationship between ASD and HRV remains uncertain. We assessed tonic and phasic HRV of 21 children with ASD and 21 age- and IQ-matched typically developing (TD) children and examined (1) group differences in HRV and (2) associations between HRV and ASD symptomatology. Children with ASD showed significantly lower tonic HRV, but similar phasic HRV compared to TD children. Additionally, reduced tonic HRV was associated with atypical attentional responsivity in ASD. Our findings suggest ANS dysregulation is present in ASD and may contribute to atypical attentional responses to sensory stimulation.

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10. McCoy MS, Liu EY, Lutz ASF, Sisti D. Ethical Advocacy Across the Autism Spectrum : Beyond Partial Representation. The American journal of bioethics : AJOB. 2020 ; 20(4) : 13-24.

Recent debates within the autism advocacy community have raised difficult questions about who can credibly act as a representative of a particular population and what responsibilities that role entails. We attempt to answer these questions by defending a set of evaluative criteria that can be used to assess the legitimacy of advocacy organizations and other nonelectoral representatives. With these criteria in hand, we identify a form of misrepresentation common but not unique to autism advocacy, which we refer to as partial representation. Partial representation occurs when an actor claims to represent a particular group of people but appropriately engages with only a subset of that group. After highlighting symbolic and substantive harms associated with partial representation, we propose several strategies for overcoming it.

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11. Morgano GP, Fulceri F, Nardocci F, Barbui C, Ostuzzi G, Papola D, Fatta LM, Fauci AJ, Coclite D, Napoletano A, De Crescenzo F, D’Alo GL, Amato L, Cinquini M, Iannone P, Schunemann HJ, Scattoni ML. Introduction and methods of the evidence-based guidelines for the diagnosis and management of autism spectrum disorder by the Italian National Institute of Health. Health and quality of life outcomes. 2020 ; 18(1) : 81.

BACKGROUND : Autism Spectrum Disorder (ASD) is a neuro-developmental disorder that affects communication and behavior with a prevalence of approximately 1% worldwide. Health outcomes of interventions for ASD are largely Participant Reported Outcomes (PROs). Specific guidelines can help support the best care for people with ASD to optimize these health outcomes but they have to adhere to standards for their development to be trustworthy. OBJECTIVE : The goal of this article is to describe the new methodological standards of the Italian National Institute of Health and novel aspects of this guideline development process. This article will serve as a reference standard for future guideline development in the Italian setting. METHODS : We applied the new standards of the Italian National Institute of Health to the two guidelines on diagnosis and management of children/adolescents and adults with ASD, with a focus on the scoping, panel composition, management of conflict of interest, generation and prioritization of research questions, early stakeholders’ involvement, and PROs. Recommendations are based on the Grading of Recommendations Assessment, Development and Evaluation (GRADE) Evidence-to-Decision frameworks. RESULTS : Following a public application process, the ISS established two multidisciplinary panels including people with ASD and/or their caregivers. Seventy-nine research questions were identified as potentially relevant for the guideline on children and adolescents with ASD and 31 for the one on adults with ASD. Questions deemed to have the highest priority were selected for inclusion in the guidelines. Other stakeholders valued their early involvement in the process which will largely focus on PROs. The panels then successfully piloted the development of recommendations using the methodological standards and process set by the ISS with a focus on PROs. CONCLUSIONS : In this article, we describe the development of practice guidelines that focus on PROs for the diagnosis and management of ASD based on novel methods for question prioritization and stakeholder involvement. The recommendations allow for the adoption or adaptation to international settings.

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12. Oser TK, Oser SM, Parascando JA, Grisolano LA, Krishna KB, Hale DE, Litchman M, Majidi S, Haidet P. Challenges and Successes in Raising a Child with Type 1 Diabetes and Autism Spectrum Disorder : Mixed Methods Study. Journal of medical Internet research. 2020.

BACKGROUND : Type 1 diabetes (T1D) self-management requires numerous decisions and actions by the person with T1D and/or their caregiver(s) and poses many daily challenges. For those with T1D and a developmental disorder such as autism spectrum disorder (ASD), more complex challenges arise, though these remain largely unstudied. OBJECTIVE : The purpose of this study was to better understand barriers and facilitators to raising a child with T1D and ASD. Secondary data analysis of online content (Phase 1) and telephone interviews (Phase 2) were conducted to further expand existing knowledge as to the challenges and successes these families face. METHODS : Phase 1 involved qualitative analysis of publicly available online forum and blog posts by caregivers of children with both T1D and ASD. Themes from Phase 1 were used to create an interview guide for further in-depth exploration via interviews. In Phase 2, caregivers of children with both T1D and ASD were recruited from Penn State Health endocrinology clinics and online from social media postings to T1D focused groups and sites. Interested respondents were directed to a secure online eligibility assessment via REDCap. Information related to T1D and ASD diagnosis, contact information and demographics were collected. Based on survey responses, participants were selected for a follow-up telephone interview, and were asked to complete the ABAS-3 Parent Form to assess autism severity and upload a copy of their child’s most recent hemoglobin A1c result. Interviews were transcribed, imported into NVivo qualitative data management software, and analyzed to determine common themes related to barriers and facilitators in raising a child with both ASD and T1D. RESULTS : For Phase 1, 398 forum and blog posts between 2009 and 2016 were analyzed. Common themes were related to lack of understanding by the separate ASD and T1D caregiver communities, advice on coping techniques, rules and routines, and descriptions of the healthcare experience. For Phase 2, twelve eligible respondents were interviewed. For interviewees, the average age of the child at diagnosis with T1D and ASD was 7.92 and 5.55 years, respectively. Average self-reported and documented hemoglobin A1c levels were 8.6% (70 mmol/mol) and 8.7% (72 mmol/mol), respectively. Common themes from the interviews were related to increased emotional burden, frustration surrounding the amount of information they are expected to learn, and challenges in the school setting. CONCLUSIONS : Caregivers of children with both T1D and ASD face unique challenges, distinct from those faced by caregivers of individuals who have either disorder alone. Understanding these challenges may help healthcare providers in caring for this unique population. Referral to the diabetes online community may be a potential resource to supplement the care received by the medical community. CLINICALTRIAL :

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13. Parikh C, Iosif AM, Ozonoff S. Brief Report : Use of the Infant-Toddler Checklist in Infant Siblings of Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

Few studies have explored autism spectrum disorder (ASD) screening in the first year of life. The current investigation examines the psychometric properties of the Infant-Toddler Checklist starting in the first year of life in a sample at elevated and average risk for ASD based on family history. 283 participants were followed from 6 to 36 months, when diagnostic outcome was determined. The results indicated low to moderate sensitivity, specificity, and positive predictive value across ages for broadly distinguishing any delays from typical development, as well as for more narrowly discriminating children with ASD from those who were typically developing. Implications for utilizing ASD screening tools in the first year of life with high risk samples are discussed.

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14. van Schalkwyk GI, Dewinter J. Qualitative Research in the Journal of Autism and Developmental Disorders. J Autism Dev Disord. 2020.

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