Pubmed du 31/07/19

mercredi 31 juillet 2019

1. Baron-Cohen S, Tsompanidis A, Auyeung B, Norgaard-Pedersen B, Hougaard DM, Abdallah M, Cohen A, Pohl A. Foetal oestrogens and autism. Mol Psychiatry ;2019 (Jul 29)

Elevated latent prenatal steroidogenic activity has been found in the amniotic fluid of autistic boys, based on measuring prenatal androgens and other steroid hormones. To date, it is unclear if other prenatal steroids also contribute to autism likelihood. Prenatal oestrogens need to be investigated, as they play a key role in synaptogenesis and corticogenesis during prenatal development, in both males and females. Here we test whether levels of prenatal oestriol, oestradiol, oestrone and oestrone sulphate in amniotic fluid are associated with autism, in the same Danish Historic Birth Cohort, in which prenatal androgens were measured, using univariate logistic regression (n = 98 cases, n = 177 controls). We also make a like-to-like comparison between the prenatal oestrogens and androgens. Oestradiol, oestrone, oestriol and progesterone each related to autism in univariate analyses after correction with false discovery rate. A comparison of standardised odds ratios showed that oestradiol, oestrone and progesterone had the largest effects on autism likelihood. These results for the first time show that prenatal oestrogens contribute to autism likelihood, extending the finding of elevated prenatal steroidogenic activity in autism. This likely affects sexual differentiation, brain development and function.

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2. Cheng H, Du C, Zhang Y, James AF, Dempsey CE, Abdala AP, Hancox JC. Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome. J Mol Cell Cardiol ;2019 (Jul 27)

Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder associated with respiratory abnormalities and, in up to 40% of patients, with prolongation of the cardiac QTc interval. QTc prolongation calls for cautious use of drugs with a propensity to inhibit hERG channels. The ongoing STARS trial has been undertaken to investigate the efficacy of sarizotan, a 5-HT1A receptor agonist, at correcting RTT respiratory abnormalities. This study investigated whether sarizotan inhibits hERG potassium channels and prolongs ventricular repolarization. Whole-cell patch-clamp measurements were made at 37 degrees C from hERG-expressing HEK293 cells. Docking analysis was conducted using a recent cryo-EM structure of hERG. Sarizotan was a potent inhibitor of hERG current (IhERG ; IC50 of 183nM) and of native ventricular IKr from guinea-pig ventricular myocytes. 100nM and 1muM sarizotan prolonged ventricular action potential (AP) duration (APD90) by 14.1+/-3.3% (n=6) and 29.8+/-3.1% (n=5) respectively and promoted AP triangulation. High affinity IhERG inhibition by sarizotan was contingent upon channel gating and intact inactivation. Mutagenesis experiments and docking analysis implicated F557, S624 and Y652 residues in sarizotan binding, with weaker contribution from F656. In conclusion, sarizotan inhibits IKr/IhERG, accessing key binding residues on channel gating. This action and consequent ventricular AP prolongation occur at concentrations relevant to those proposed to treat breathing dysrhythmia in RTT. Sarizotan should only be used in RTT patients with careful evaluation of risk factors for QTc prolongation.

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3. Grunwald LM, Stock R, Haag K, Buckenmaier S, Eberle MC, Wildgruber D, Storchak H, Kriebel M, Weissgraeber S, Mathew L, Singh Y, Loos M, Li KW, Kraushaar U, Fallgatter AJ, Volkmer H. Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism. Transl Psychiatry ;2019 (Jul 29) ;9(1):179.

Human induced pluripotent stem cells (hiPSC) provide an attractive tool to study disease mechanisms of neurodevelopmental disorders such as schizophrenia. A pertinent problem is the development of hiPSC-based assays to discriminate schizophrenia (SZ) from autism spectrum disorder (ASD) models. Healthy control individuals as well as patients with SZ and ASD were examined by a panel of diagnostic tests. Subsequently, skin biopsies were taken for the generation, differentiation, and testing of hiPSC-derived neurons from all individuals. SZ and ASD neurons share a reduced capacity for cortical differentiation as shown by quantitative analysis of the synaptic marker PSD95 and neurite outgrowth. By contrast, pattern analysis of calcium signals turned out to discriminate among healthy control, schizophrenia, and autism samples. Schizophrenia neurons displayed decreased peak frequency accompanied by increased peak areas, while autism neurons showed a slight decrease in peak amplitudes. For further analysis of the schizophrenia phenotype, transcriptome analyses revealed a clear discrimination among schizophrenia, autism, and healthy controls based on differentially expressed genes. However, considerable differences were still evident among schizophrenia patients under inspection. For one individual with schizophrenia, expression analysis revealed deregulation of genes associated with the major histocompatibility complex class II (MHC class II) presentation pathway. Interestingly, antipsychotic treatment of healthy control neurons also increased MHC class II expression. In conclusion, transcriptome analysis combined with pattern analysis of calcium signals appeared as a tool to discriminate between SZ and ASD phenotypes in vitro.

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4. Martinez-Gonzalez AE, Andreo-Martinez P. The Role of Gut Microbiota in Gastrointestinal Symptoms of Children with ASD. Medicina (Kaunas) ;2019 (Jul 26) ;55(8)

Background and objectives : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired communication, social interaction disorder, and repetitive behavior. Dysbiotic gut microbiota (GM) could be a contributing factor to the appearance of ASD, as gastrointestinal (GI) symptoms are comorbidities frequently reported in ASD. As there is a lack of reviews about the role played by GM in the GI symptoms of ASD, this work aimed to carry out a systematic review of current studies comparing the GM of children with ASD and GI symptoms with those of healthy controls in the last six years. Materials and Methods : The systematic review was performed following the PRISMA guidelines. The databases chosen were Web of Science, Scopus, PubMed, and PsycINFO, and the keywords were (gut* OR intestine* OR bowel* OR gastrointestinal*) AND (microbiota* OR microflora* OR bacteria* OR microbiome* OR flora* OR bacterial* OR bacteria* OR microorganism* OR feces* OR stool*) AND (autistic* OR autism* OR ASD*). Results : A total of 16 articles were included. Ten articles performed correlations analysis between GI symptoms and ASD. Among those 10 articles, 7 found differences between the GI symptoms present in children with ASD and healthy controls. The most common GI symptom was constipation. Among the seven articles that found differences, three performed correlations analysis between GI symptoms and gut microbe abundance. Candida, Prevotella, Streptococcus, and Veillonella showed higher and lower abundance, respectively, in children with ASD and GI symptoms in more than one article. Bacteroidetes, Firmicutes, Actinomyces, Dorea, Lactobacillus, Faecalibacterium prausnitzii, and Bacteroidetes/Firmicutes ratios showed abundance discrepancies. Conclusions : It is still too early to draw a conclusion about the gut microbes involved in GI symptoms of ASD. Future research should consider the relationship between ASD behavior, GM, and GI symptoms in a multidisciplinary way and homogenize sample characteristics.

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5. McCoy SM, Morgan K. Obesity, physical activity, and sedentary behaviors in adolescents with autism spectrum disorder compared with typically developing peers. Autism ;2019 (Jul 31):1362361319861579.

Decreased engagement in beneficial physical activity and increased levels of sedentary behavior and unhealthy weight are a continued public health concern in adolescents. Adolescents with autism spectrum disorder may be at an increased risk compared with their typically developing peers. Weekly physical activity, sedentary behavior, and body mass index classification were compared among adolescents with and without autism spectrum disorder. Analyses included 33,865 adolescents (autism spectrum disorder, n = 1036) from the 2016-2017 National Survey of Children’s Health (United States). After adjustment for covariates, adolescents with autism spectrum disorder were found to engage in less physical activity and were more likely to be overweight and obese compared with their typically developing peers (p’s < 0.05). As parent-reported autism spectrum disorder severity increased, the adjusted odds of being overweight and obese significantly increased and physical activity participation decreased (p-for-trends < 0.001). The findings suggest there is a need for targeted programs to decrease unhealthy weight status and support physical activity opportunities for adolescents with autism spectrum disorder across the severity spectrum.

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6. Roche KJ, LeBlanc JJ, Levin AR, O’Leary HM, Baczewski LM, Nelson CA. Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome. J Neurodev Disord ;2019 (Jul 31) ;11(1):15.

BACKGROUND : Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the disorder can lead to cognitive, motor, sensory, and autonomic dysfunction. Understanding the mechanism of developmental regression represents a unique challenge when viewed through a neuroscience lens. Are circuits that were previously established erased, and are new ones built to supplant old ones ? One way to examine circuit-level changes is with the use of electroencephalography (EEG). Previous studies of the EEG in individuals with Rett syndrome have focused on morphological characteristics, but few have explored spectral power, including power as an index of brain function or disease severity. This study sought to determine if EEG power differs in girls with Rett syndrome and typically developing girls and among girls with Rett syndrome based on various clinical characteristics in order to better understand neural connectivity and cortical organization in individuals with this disorder. METHODS : Resting state EEG data were acquired from girls with Rett syndrome (n = 57) and typically developing children without Rett syndrome (n = 37). Clinical data were also collected for girls with Rett syndrome. EEG power across several brain regions in numerous frequency bands was then compared between girls with Rett syndrome and typically developing children and power in girls with Rett syndrome was compared based on these clinical measures. 1/f slope was also compared between groups. RESULTS : Girls with Rett syndrome demonstrate significantly lower power in the middle frequency bands across multiple brain regions. Additionally, girls with Rett syndrome that are postregression demonstrate significantly higher power in the lower frequency delta and theta bands and a significantly more negative slope of the power spectrum. Increased power in these bands, as well as a more negative 1/f slope, trended with lower cognitive assessment scores. CONCLUSIONS : Increased power in lower frequency bands is consistent with previous studies demonstrating a "slowing" of the background EEG in Rett syndrome. This increase, particularly in the delta band, could represent abnormal cortical inhibition due to dysfunctional GABAergic signaling and could potentially be used as a marker of severity due to associations with more severe Rett syndrome phenotypes.

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7. Rushton DH, Van Neste DJJ. Autistic-Undisciplined - Practice What You Preach !. Int J Trichology ;2019 (May-Jun) ;11(3):140-141.

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8. Scherer N, Verhey I, Kuper H. Depression and anxiety in parents of children with intellectual and developmental disabilities : A systematic review and meta-analysis. PLoS One ;2019 ;14(7):e0219888.

INTRODUCTION : Although caring for a child with intellectual and developmental disabilities (IDD) can have positive outcomes, parents may be at a greater risk of depression and anxiety, due to a number of associated stressors, such as increased caregiver demands and financial strain. This systematic review updates previous data, exploring the relationship between parenting a child with IDD and parental depression and anxiety. METHODS : Five electronic databases were searched for eligible English-language articles, published between January 2004 and July 2018. All epidemiological study designs were eligible, provided the level of depression and/or anxiety was compared between parents of children (aged <18) with and without IDD. No limit was placed on geographic location. The proportion of positive associations between parenting a child with IDD and depression/anxiety were disaggregated by disability type, geographic region, and sample size. The percentage of parents at risk of moderate depression or anxiety were calculated using recognised clinical cut-off scores for each screening tool. Meta-analyses, in which pooled effect sizes of elevated depression and anxiety symptoms were calculated, were conducted across two IDD conditions, autism and cerebral palsy. RESULTS : Of the 5,839 unique records screened, 19 studies fulfilled the inclusion criteria. The majority of studies were conducted in high-income (n = 8, 42%) or upper-middle income countries (n = 10, 53%). Of the 19 studies, 69% focused on parents of children with cerebral palsy (n = 7, 37%) or autism (n = 6, 32%). Nearly all studies found a positive association between parenting a child with IDD and depression (n = 18, 95%) and anxiety (n = 9, 90%) symptoms. Factors associated with higher levels of depression symptoms amongst parents of children with IDD included disability severity (n = 8, 78%) and lower household income (n = 4, 80%). Approximately one third (31%) of parents of children with IDD reach the clinical cut-off score for moderate depression, compared with 7% of parents of children without IDD. 31% of parents of children with IDD reach the cut-off score for moderate anxiety, compared with 14% of parents of children without IDD. The meta-analyses demonstrated moderate effect sizes for elevated depression amongst parents of children with autism and cerebral palsy. CONCLUSIONS : Results indicate elevated levels of depressive symptoms amongst parents of children with IDD. Quality concerns amongst the existing literature support the need for further research, especially in low- and middle-income countries.

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9. Segev A, Weisskopf MG, Levine H, Pinto O, Raz R. Incidence time trends and socioeconomic factors in the observed incidence of autism spectrum disorder in israel : A nationwide nested case-control study. Autism Res ;2019 (Jul 31)

Autism spectrum disorder (ASD) trends have been gaining a great deal of focus in recent decades, as many studies worldwide show a continued rise in incidence rates. Many researchers have begun analyzing socioeconomic data in relation to ASD in an effort to understand the source of these changing rates and the role of awareness and access to resources. In this study, we aim to contribute to this body of knowledge by examining incidence time trends of ASD in Israel according to socioeconomic factors. While similar studies have been conducted in Israel, this study is the first of its kind to include the total population. Individual-level data from the Israeli National Insurance Institute were used to determine cumulative incidence of ASD, first for the total population, and then stratified by population group and income categories. Multivariable logistic regression models were fit to analyze associations between income category and both risk of ASD and risk of ASD diagnosis in later age. A total of 431,348 children were examined in this study, with 13,841 cases of ASD. The cumulative incidence of all children aged 8 in 2015 was 0.64%, marking an increase compared to previous literature from Israel. Within our study period, ASD incidence followed this increase until the 2009 birth cohort, where it began to stabilize. Our initial findings from regression models showed strong positive associations between household income and ASD incidence, as expected. After factoring in population group, however, the elevated ASD incidence rates in the highest income bracket decreased. Autism Res 2019, 00 : 1-10. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study contributes comprehensive and current data on ASD trends overtime in Israel and introduces crucial insights regarding the impact of socioeconomic factors on ASD diagnoses. We found a rise in ASD that began leveling off in 2009. We identified more ASD diagnoses occurring in families with higher incomes and in the General Population, pointing to the important role of sociodemographic factors on ASD diagnoses.

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10. Sohmaran CD, Shorey S. Psychological Interventions in Reducing Stress, depression and anxiety among Parents of Children and Adolescents with Developmental Disabilities : A Systematic Review and Meta-analysis. J Adv Nurs ;2019 (Jul 30)

AIMS : To evaluate the effectiveness of psychological interventions in reducing stress, depression and anxiety among parents of children and adolescents with developmental disabilities. DESIGN : A systematic review and a meta analysis. DATA SOURCES : Seven electronic databases (CINAHL, CENTRAL, EMBASE, ProQuest Dissertation and Theses, PsycINFO, PubMed and Scopus) were searched from each database’s point of inception to December 2018. REVIEW METHODS : Quality appraisal was conducted using the Cochrane Risk of Bias Tool. Data were analyzed using Review Manager 5.3. The overall quality of evidence was evaluated using the Grading of Recommendations Assessment, Development and Evaluation system. RESULTS : A total of eighteen studies were included in this review. Eleven studies were involved in a meta-analysis and the remaining seven studies were summarized narratively. The meta-analysis found that psychological interventions significantly reduced parental stress at post-intervention but not at three to six months’ post-intervention. Inconclusive evidence was found for the effectiveness of psychological interventions in reducing parental depression and anxiety. CONCLUSION : Psychological interventions appeared to reduce parental stress temporarily. Healthcare professionals can offer varied psychological interventions for parents to choose from. Policymakers can ease accessibility and affordability for parents to attend interventions. IMPACT : Psychological interventions were found to have short-term effects in reducing parental stress. Inconclusive evidence was found for the effectiveness of psychological interventions in reducing parental depression and anxiety. Healthcare professionals should ensure that knowledge is transmitted to parents when delivering their interventions. Policymakers worldwide should ensure that parents of children and adolescents with developmental disabilities can attend interventions by making them accessible and affordable. This article is protected by copyright. All rights reserved.

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11. Uccheddu S, Albertini M, Pierantoni L, Fantino S, Pirrone F. The Impacts of a Reading-to-Dog Programme on Attending and Reading of Nine Children with Autism Spectrum Disorders. Animals (Basel) ;2019 (Jul 26) ;9(8)

Poor knowledge is available on the effectiveness of reading to dogs in educational settings, particularly in children with Autism Spectrum Disorders (ASD). In this study, we test the hypothesis that reading to a dog improves propensity towards books and motivation to read after the end of the programme, as well as reading and cognitive skills in children with ASD. The study is a prospective, randomized controlled trial, consisting of testing and re-testing after a 10 sessions reading programme with and without the presence of a dog. Nine Children with ASD (6-11 years old) were randomly assigned to a control (CG, reading without a dog, n. 4) or experimental group (EG, reading to a dog, n. 5). Children’s attendance at reading sessions was recorded at each session. Parents’ perceptions were evaluated at the end of the programme to detect changes in children’s attitudes and motivation toward reading. Psychologist-administered validated reading (Cornoldi’s MT2 reading test ; test of reading comprehension, TORC ; metaphonological competence test, MCF) and cognitive tests (Wechsler intelligence scale for children Wisc IV, Vineland) to all children, at baseline and at the end of the reading programme. Compared with CG children, children in the EG group participated more frequently in the reading sessions, and they were reported to be more motivated readers at home after the programme. However, there were no differences on reading and cognitive tests’ scores either within each group of children or between groups. Further studies are warranted in order to understand whether and how incorporating dogs into a reading programme is beneficial to Children with ASD at the socio-emotional and cognitive level.

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12. Wise EA, Smith MD, Rabins PV. Correlates of daily functioning in older adults with autism spectrum disorder. Aging Ment Health ;2019 (Jul 29):1-9.

Objectives : Studies of adults with autism spectrum disorder (ASD) have demonstrated poor outcomes related to independence and everyday living skills compared to the general population. In a sample of 74 adults with ASD who require a high level of support we sought to identify correlates of daily functioning. Methods : We administered questionnaires to residential staff and identified participants’ independence level in basic and instrumental activities of daily living. Results : There was no association of age with daily functioning. Higher daily functioning was associated with a better general medical health rating. Functional independence was greater in participants with IQ range of 55 to 65 compared to those with IQ below 55. Language difficulties and behavioral disturbances were not significantly correlated with independence in daily living skills. In this sample, individual had held a median of three different types of jobs in supported employment. Conclusion : Daily functioning in adults with autism generally does not decline with age, but because this was cross-sectional data, this requires further confirmation. Community programs designed for adults with ASD who require a high level of support should focus on overall medical health and promotion of daily living skill building.

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