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Sample records for autism replication samples

  1. Variation in rank abundance replicate samples and impact of clustering

    NARCIS (Netherlands)

    Neuteboom, J.H.; Struik, P.C.

    2005-01-01

    Calculating a single-sample rank abundance curve by using the negative-binomial distribution provides a way to investigate the variability within rank abundance replicate samples and yields a measure of the degree of heterogeneity of the sampled community. The calculation of the single-sample rank

  2. QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders.

    Science.gov (United States)

    Lu, A T-H; Yoon, J; Geschwind, D H; Cantor, R M

    2013-02-01

    Autism Spectrum Disorder (ASD) has a heterogeneous etiology that is genetically complex. It is defined by deficits in communication and social skills and the presence of restricted and repetitive behaviors. Genetic analyses of heritable quantitative traits that correlate with ASD may reduce heterogeneity. With this in mind, deficits in nonverbal communication (NVC) were quantified based on items from the Autism Diagnostic Interview Revised. Our previous analysis of 228 families from the Autism Genetics Research Exchange (AGRE) repository reported 5 potential quantitative trait loci (QTL). Here we report an NVC QTL replication study in an independent sample of 213 AGRE families. One QTL was replicated (Panalysis of 476 haplotype blocks with 708 AGRE families using the Family Based Association Test (FBAT). Blocks in two QTL genes were associated with NVC with a P-value of 0.001. Three associated haplotype blocks were intronic to the Nerve Growth Factor (NGF) gene (P=0.001, 0.001, 0.002), and one was intronic to KCND3 (P=0.001). Individual haplotypes within the associated blocks drove the associations (0.003, 0.0004 and 0.0002) for NGF and 0.0001 for KCND3. Using the same methods, these genes were tested for association with NVC in an independent sample of 1517 families from an Autism Genome Project (AGP). NVC was associated with a haplotype in an adjacent NGF block (P=0.0005) and one 46 kb away from the associated block in KCND3 (0.008). These analyses illustrate the value of QTL and targeted association studies for genetically complex disorders such as ASD. NGF is a promising risk gene for NVC deficits.

  3. The Autism Simplex Collection : an international, expertly phenotyped autism sample for genetic and phenotypic analyses

    OpenAIRE

    Buxbaum, Joseph D.; Bolshakova, Nadia; Brownfeld, Jessica M.; Anney, Richard J. L.; Bender, Patrick; Bernier, Raphael; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Freitag, Christine M.; Hallmayer, Joachim; Geschwind, Daniel H.; Klauck, Sabine M.; Nurnberger, John I.; Oliveira, Guiomar

    2014-01-01

    Background: There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. Methods: In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. The program was called The Autism Simplex Collection (TASC). TASC sample collection ...

  4. Investigating the cross-cultural validity of DSM-5 autism spectrum disorder: evidence from Finnish and UK samples.

    Science.gov (United States)

    Mandy, William; Charman, Tony; Puura, Kaija; Skuse, David

    2014-01-01

    The recent Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond North America and the United Kingdom. We tested the applicability of the DSM-5 model to a sample of Finnish young people with autism spectrum disorder (n = 130) or the broader autism phenotype (n = 110). Confirmatory factor analysis tested the DSM-5 model in Finland and compared the fit of this model between Finnish and UK participants (autism spectrum disorder, n = 488; broader autism phenotype, n = 220). In both countries, autistic symptoms were measured using the Developmental, Diagnostic and Dimensional Interview. Replicating findings from English-speaking samples, the DSM-5 model fitted well in Finnish autism spectrum disorder participants, outperforming a Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) model. The DSM-5 model fitted equally well in Finnish and UK autism spectrum disorder samples. Among broader autism phenotype participants, this model fitted well in the United Kingdom but poorly in Finland, suggesting that cross-cultural variability may be greatest for milder autistic characteristics. We encourage researchers with data from other cultures to emulate our methodological approach, to map any cultural variability in the manifestation of autism spectrum disorder and the broader autism phenotype. This would be especially valuable given the ongoing revision of the International Classification of Diseases-11th Edition, the most global of the diagnostic manuals.

  5. Lack of replication of previous autism spectrum disorder GWAS hits in European populations

    NARCIS (Netherlands)

    Torrico, B.; Chiocchetti, A.G.; Bacchelli, E.; Trabetti, E.; Hervas, A.; Franke, B.; Buitelaar, J.K.; Rommelse, N.N.J.; Yousaf, A.; Duketis, E.; Freitag, C.M.; Caballero-Andaluz, R.; Martinez-Mir, A.; Scholl, F.G.; Ribases, M.; Battaglia, A.; Malerba, G.; Delorme, R.; Benabou, M.; Maestrini, E.; Bourgeron, T.; Cormand, B.; Toma, C.

    2017-01-01

    Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for association studies. During the last decade several

  6. Brief Report: Personality Mediates the Relationship between Autism Quotient and Well-Being--A Conceptual Replication Using Self-Report

    Science.gov (United States)

    Rodgers, Jonathan D.; Lodi-Smith, Jennifer; Hill, Patrick L.; Spain, Seth M.; Lopata, Christopher; Thomeer, Marcus L.

    2018-01-01

    Autism spectrum disorder (ASD) impacts well-being across the lifespan. Individuals with ASD evidence differences in personality traits and self-concept clarity that are predictors of well-being in typically-developing individuals. The current research replicates a growing body of evidence demonstrating differences in well-being and personality…

  7. Sampling hydrometeors in clouds in-situ - the replicator technique

    Science.gov (United States)

    Wex, Heike; Löffler, Mareike; Griesche, Hannes; Bühl, Johannes; Stratmann, Frank; Schmitt, Carl; Dirksen, Ruud; Reichardt, Jens; Wolf, Veronika; Kuhn, Thomas; Prager, Lutz; Seifert, Patric

    2017-04-01

    For the examination of ice crystals in clouds, concerning their number concentrations, sizes and shapes, often instruments mounted on fast flying aircraft are used. One related disadvantage is possible shattering of the ice crystals on inlets, which has been improved with the introduction of the "Korolev-tip" and by accounting for inter-arrival times (Korolev et al., 2013, 2015), but additionally, the typically fast flying aircraft allow only for a low spatial resolution. Alternative sampling methods have been introduced as e.g., a replicator by Miloshevich & Heymsfield (1997) and an in-situ imager by by Kuhn & Heymsfield (2016). They both sample ice crystals onto an advancing stripe while ascending on a balloon, conserving the ice crystals either in formvar for later off-line analysis under a microscope (Miloshevich & Heymsfield, 1997) or imaging them upon their impaction on silicone oil (Kuhn & Heymsfield, 2016), both yielding vertical profiles for different ice crystal properties. A measurement campaign was performed at the Lindenberg Meteorological Observatory of the German Meteorological Service (DWD) in Germany in October 2016, during which both types of instruments were used during balloon ascents, while ground-based Lidar and cloud-radar measurements were performed simultaneously. The two ice particle sondes were operated by people from the Lulea University of Technology and from TROPOS, where the latter one was made operational only recently. Here, we will show first results of the TROPOS replicator on ice crystals sampled during one ascent, for which the collected ice crystals were analyzed off-line using a microscope. Literature: Korolev, A., E. Emery, and K. Creelman (2013), Modification and tests of particle probe tips to mitigate effects of ice shattering, J. Atmos. Ocean. Tech., 30, 690-708, 2013. Korolev, A., and P. R. Field (2015), Assessment of the performance of the inter-arrival time algorithm to identify ice shattering artifacts in cloud

  8. Evaluating the reproducibility of environmental radioactivity monitoring data through replicate sample analysis

    International Nuclear Information System (INIS)

    Lindeken, C.L.; White, J.H.; Silver, W.J.

    1978-01-01

    At the Lawrence Livermore Laboratory, about 10% of the sampling effort in the environmental monitoring program represents replicate sample collection. Replication of field samples was initiated as part of the quality assurance program for environmental monitoring to determine the reproducibility of environmental measurements. In the laboratory these replicates are processed along with routine samples. As all components of variance are included in analysis of such field samples, comparison of the analytical data from replicate analyses provides a basis for estimating the overall reproducibility of the measurements. The replication study indicates that the reproducibility of environmental radioactivity monitoring data is subject to considerably more variability than is indicated by the accompanying counting errors. The data are also compared with analyses of duplicate aliquots from a well mixed sample or with duplicate aliquots of samples with known radionuclide content. These comparisons show that most of the variability is associated with the collection and preparation of the sample rather than with the analytical procedures

  9. Autism

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Autism KidsHealth / For Teens / Autism What's in this article? ... With Autism? Print en español Autismo What Is Autism? Autism (also called "autism spectrum disorder") is a ...

  10. A comparison of methods for teaching receptive labeling to children with autism spectrum disorders: a systematic replication.

    Science.gov (United States)

    Grow, Laura L; Kodak, Tiffany; Carr, James E

    2014-01-01

    Previous research has demonstrated that the conditional-only method (starting with a multiple-stimulus array) is more efficient than the simple-conditional method (progressive incorporation of more stimuli into the array) for teaching receptive labeling to children with autism spectrum disorders (Grow, Carr, Kodak, Jostad, & Kisamore,). The current study systematically replicated the earlier study by comparing the 2 approaches using progressive prompting with 2 boys with autism. The results showed that the conditional-only method was a more efficient and reliable teaching procedure than the simple-conditional method. The results further call into question the practice of teaching simple discriminations to facilitate acquisition of conditional discriminations. © Society for the Experimental Analysis of Behavior.

  11. Determination of selenium in food matrices by replicate sample neutron activation analysis

    International Nuclear Information System (INIS)

    Ventura, M.G.; Freitas, M.C.; Ventura, M.G.; Pacheco, A.M.G.

    2009-01-01

    The replicate sample instrumental neutron activation method was optimized and used for the determination of selenium in foodstuffs. The method was reliable, yielding accurate results. Lower detections limits were obtained after each successive irradiation. Different irradiation conditions were used depending on the type of sample. For samples with higher selenium contents (meat, fish, eggs), the measured selenium in the first replicate is in all cases larger than the detection limit, but a better accuracy was obtained with a larger number of replicates (2-3 replicates). For samples with extremely low selenium contents (vegetable samples), at least seven replicates were necessary to obtain a concentration value two times larger than the detection limit. (author)

  12. Disruptive Mood Dysregulation Disorder Symptoms by Age in Autism, ADHD, and General Population Samples

    Science.gov (United States)

    Mayes, Susan Dickerson; Kokotovich, Cari; Mathiowetz, Christine; Baweja, Raman; Calhoun, Susan L.; Waxmonsky, James

    2017-01-01

    Disruptive mood dysregulation disorder (DMDD) is a controversial "DSM-5" diagnosis. It is not known how DMDD symptoms vary by age and if differences are similar for autism, ADHD, and general population samples. Our study analyzed the two DMDD symptoms (irritable-angry mood and temper outbursts) in 1,827 children with autism or ADHD (with…

  13. Support, shape and number of replicate samples for tree foliage analysis

    NARCIS (Netherlands)

    Luyssaert, Sebastiaan; Mertens, Jan; Raitio, Hannu

    Many fundamental features of a sampling program are determined by the heterogeneity of the object under study and the settings for the error (α), the power (β), the effect size (ES), the number of replicate samples, and sample support, which is a feature that is often overlooked. The number of

  14. Replication Variance Estimation under Two-phase Sampling in the Presence of Non-response

    Directory of Open Access Journals (Sweden)

    Muqaddas Javed

    2014-09-01

    Full Text Available Kim and Yu (2011 discussed replication variance estimator for two-phase stratified sampling. In this paper estimators for mean have been proposed in two-phase stratified sampling for different situation of existence of non-response at first phase and second phase. The expressions of variances of these estimators have been derived. Furthermore, replication-based jackknife variance estimators of these variances have also been derived. Simulation study has been conducted to investigate the performance of the suggested estimators.

  15. Support, shape and number of replicate samples for tree foliage analysis.

    Science.gov (United States)

    Luyssaert, Sebastiaan; Mertens, Jan; Raitio, Hannu

    2003-06-01

    Many fundamental features of a sampling program are determined by the heterogeneity of the object under study and the settings for the error (alpha), the power (beta), the effect size (ES), the number of replicate samples, and sample support, which is a feature that is often overlooked. The number of replicates, alpha, beta, ES, and sample support are interconnected. The effect of the sample support and its shape on the required number of replicate samples was investigated by means of a resampling method. The method was applied to a simulated distribution of Cd in the crown of a Salix fragilis L. tree. Increasing the dimensions of the sample support results in a decrease in the variance of the element concentration under study. Analysis of the variance is often the foundation of statistical tests, therefore, valid statistical testing requires the use of a fixed sample support during the experiment. This requirement might be difficult to meet in time-series analyses and long-term monitoring programs. Sample supports have their largest dimension in the direction with the largest heterogeneity, i.e. the direction representing the crown height, and this will give more accurate results than supports with other shapes. Taking the relationships between the sample support and the variance of the element concentrations in tree crowns into account provides guidelines for sampling efficiency in terms of precision and costs. In terms of time, the optimal support to test whether the average Cd concentration of the crown exceeds a threshold value is 0.405 m3 (alpha = 0.05, beta = 0.20, ES = 1.0 mg kg(-1) dry mass). The average weight of this support is 23 g dry mass, and 11 replicate samples need to be taken. It should be noted that in this case the optimal support applies to Cd under conditions similar to those of the simulation, but not necessarily all the examinations for this tree species, element, and hypothesis test.

  16. Gender roles in relation to assertiveness and Eysenckian personality dimensions : Replication with a Spanish population sample

    NARCIS (Netherlands)

    Arrindell, W.A.; Vergara, A.I; Torres, B.; Caballo, V.E.; Sanderman, R.; Calvo, M G; Vanderende, J.; Oosterhof, L.; Castro, J

    The objective of the present study was to evaluate the cross-national replicability of the usual pattern of associations observed in Anglo-Saxon samples between masculinity and femininity on the one hand and difficulty and distress in assertiveness and the major Eysenckian dimensions of personality

  17. Sample preparation composite and replicate strategy case studies for assay of solid oral drug products.

    Science.gov (United States)

    Nickerson, Beverly; Harrington, Brent; Li, Fasheng; Guo, Michele Xuemei

    2017-11-30

    Drug product assay is one of several tests required for new drug products to ensure the quality of the product at release and throughout the life cycle of the product. Drug product assay testing is typically performed by preparing a composite sample of multiple dosage units to obtain an assay value representative of the batch. In some cases replicate composite samples may be prepared and the reportable assay value is the average value of all the replicates. In previously published work by Harrington et al. (2014) [5], a sample preparation composite and replicate strategy for assay was developed to provide a systematic approach which accounts for variability due to the analytical method and dosage form with a standard error of the potency assay criteria based on compendia and regulatory requirements. In this work, this sample preparation composite and replicate strategy for assay is applied to several case studies to demonstrate the utility of this approach and its application at various stages of pharmaceutical drug product development. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Language profiles in young children with autism spectrum disorder: A community sample using multiple assessment instruments.

    Science.gov (United States)

    Nevill, Rose; Hedley, Darren; Uljarević, Mirko; Sahin, Ensu; Zadek, Johanna; Butter, Eric; Mulick, James A

    2017-11-01

    This study investigated language profiles in a community-based sample of 104 children aged 1-3 years who had been diagnosed with autism spectrum disorder using Diagnostic and Statistical Manual of Mental Disorders (5th ed.) diagnostic criteria. Language was assessed with the Mullen scales, Preschool Language Scale, fifth edition, and Vineland-II parent-report. The study aimed to determine whether the receptive-to-expressive language profile is independent from the assessment instrument used, and whether nonverbal cognition, early communicative behaviors, and autism spectrum disorder symptoms predict language scores. Receptive-to-expressive language profiles differed between assessment instruments and reporters, and Preschool Language Scale, fifth edition profiles were also dependent on developmental level. Nonverbal cognition and joint attention significantly predicted receptive language scores, and nonverbal cognition and frequency of vocalizations predicted expressive language scores. These findings support the administration of multiple direct assessment and parent-report instruments when evaluating language in young children with autism spectrum disorder, for both research and in clinical settings. Results also support that joint attention is a useful intervention target for improving receptive language skills in young children with autism spectrum disorder. Future research comparing language profiles of young children with autism spectrum disorder to children with non-autism spectrum disorder developmental delays and typical development will add to our knowledge of early language development in children with autism spectrum disorder.

  19. Autism Spectrum Symptoms in a Tourette's Disorder Sample

    NARCIS (Netherlands)

    Darrow, Sabrina M.; Grados, Marco; Sandor, Paul; Hirschtritt, Matthew E.; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert; Pauls, David; Budman, Cathy L.; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J.; McMahon, William M.; Lee, Paul C.; Delucchi, Kevin L.; Scharf, Jeremiah M.; Mathews, Carol A.

    Objective: Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

  20. Autism Spectrum Symptoms in a Tourette's Disorder Sample

    NARCIS (Netherlands)

    Darrow, Sabrina M; Grados, Marco A; Sandor, Paul; Hirschtritt, Matthew E; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert A; Pauls, David L; Budman, Cathy L; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J; McMahon, William M; Lee, Paul C; Delucchi, Kevin L; Scharf, Jeremiah M; Mathews, Carol A

    2017-01-01

    Objective Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

  1. Using Complex Auditory-Visual Samples to Produce Emergent Relations in Children with Autism

    Science.gov (United States)

    Groskreutz, Nicole C.; Karsina, Allen; Miguel, Caio F.; Groskreutz, Mark P.

    2010-01-01

    Six participants with autism learned conditional relations between complex auditory-visual sample stimuli (dictated words and pictures) and simple visual comparisons (printed words) using matching-to-sample training procedures. Pre- and posttests examined potential stimulus control by each element of the complex sample when presented individually…

  2. Symptoms of Children with Autism Spectrum Disorder,a clinical sample

    Directory of Open Access Journals (Sweden)

    Ali Alavi Shooshtari

    2009-12-01

    Full Text Available "n Objective: "n "nThe aim of this report was to study the gender role on autismsymptoms distribution and severity in a clinical sample from Iran. Then, the results were compared with the published study from the same community population sample, Iran. "nMethod: The subjects of this retrospective study were a convenient clinical sample of the referrals of children with pervasive developmental disorders. The diagnosis was made according to DSM-IV diagnostic criteria. "nResults: "nMost of the subjects were boys. Boys were referred for evaluation more frequently than girls. The sample included 61 children and adolescents aged 2.1 to 15 years; of whom, 49 had autism. The mean age of children with autism was 7.2(SD=3.2 years. The mean of age, the diagnosis and severity of the symptoms were not related to gender . "n "n "nConclusion: Usually, those with severe cases of autism refer to clinics for treatment. Therefore, the clinical sample of children with autism is just the tip of the iceberg and they may not be the actual representative of community sample of children with autism. Preventive programs should be more focused on the screening and referring of inflected girls for service utilization .

  3. Sample preparation composite and replicate strategy for assay of solid oral drug products.

    Science.gov (United States)

    Harrington, Brent; Nickerson, Beverly; Guo, Michele Xuemei; Barber, Marc; Giamalva, David; Lee, Carlos; Scrivens, Garry

    2014-12-16

    In pharmaceutical analysis, the results of drug product assay testing are used to make decisions regarding the quality, efficacy, and stability of the drug product. In order to make sound risk-based decisions concerning drug product potency, an understanding of the uncertainty of the reportable assay value is required. Utilizing the most restrictive criteria in current regulatory documentation, a maximum variability attributed to method repeatability is defined for a drug product potency assay. A sampling strategy that reduces the repeatability component of the assay variability below this predefined maximum is demonstrated. The sampling strategy consists of determining the number of dosage units (k) to be prepared in a composite sample of which there may be a number of equivalent replicate (r) sample preparations. The variability, as measured by the standard error (SE), of a potency assay consists of several sources such as sample preparation and dosage unit variability. A sampling scheme that increases the number of sample preparations (r) and/or number of dosage units (k) per sample preparation will reduce the assay variability and thus decrease the uncertainty around decisions made concerning the potency of the drug product. A maximum allowable repeatability component of the standard error (SE) for the potency assay is derived using material in current regulatory documents. A table of solutions for the number of dosage units per sample preparation (r) and number of replicate sample preparations (k) is presented for any ratio of sample preparation and dosage unit variability.

  4. Hierarchical Bayesian modelling of gene expression time series across irregularly sampled replicates and clusters.

    Science.gov (United States)

    Hensman, James; Lawrence, Neil D; Rattray, Magnus

    2013-08-20

    Time course data from microarrays and high-throughput sequencing experiments require simple, computationally efficient and powerful statistical models to extract meaningful biological signal, and for tasks such as data fusion and clustering. Existing methodologies fail to capture either the temporal or replicated nature of the experiments, and often impose constraints on the data collection process, such as regularly spaced samples, or similar sampling schema across replications. We propose hierarchical Gaussian processes as a general model of gene expression time-series, with application to a variety of problems. In particular, we illustrate the method's capacity for missing data imputation, data fusion and clustering.The method can impute data which is missing both systematically and at random: in a hold-out test on real data, performance is significantly better than commonly used imputation methods. The method's ability to model inter- and intra-cluster variance leads to more biologically meaningful clusters. The approach removes the necessity for evenly spaced samples, an advantage illustrated on a developmental Drosophila dataset with irregular replications. The hierarchical Gaussian process model provides an excellent statistical basis for several gene-expression time-series tasks. It has only a few additional parameters over a regular GP, has negligible additional complexity, is easily implemented and can be integrated into several existing algorithms. Our experiments were implemented in python, and are available from the authors' website: http://staffwww.dcs.shef.ac.uk/people/J.Hensman/.

  5. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism.

    Science.gov (United States)

    Dhamne, Sameer C; Silverman, Jill L; Super, Chloe E; Lammers, Stephen H T; Hameed, Mustafa Q; Modi, Meera E; Copping, Nycole A; Pride, Michael C; Smith, Daniel G; Rotenberg, Alexander; Crawley, Jacqueline N; Sahin, Mustafa

    2017-01-01

    Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD. To enable the earliest stages of therapeutic discovery and development for ASD, robust and reproducible behavioral phenotypes and biological markers are essential to establish in preclinical animal models. The goal of this study was to identify electroencephalographic (EEG) and behavioral phenotypes that are replicable between independent cohorts in a mouse model of ASD. The larger goal of our strategy is to empower the preclinical biomedical ASD research field by generating robust and reproducible behavioral and physiological phenotypes in animal models of ASD, for the characterization of mechanistic underpinnings of ASD-relevant phenotypes, and to ensure reliability for the discovery of novel therapeutics. Genetic disruption of the SHANK3 gene, a scaffolding protein involved in the stability of the postsynaptic density in excitatory synapses, is thought to be responsible for a relatively large number of cases of ASD. Therefore, we have thoroughly characterized the robustness of ASD-relevant behavioral phenotypes in two cohorts, and for the first time quantified translational EEG activity in Shank3B null mutant mice. In vivo physiology and behavioral assays were conducted in two independently bred and tested full cohorts of Shank3B null mutant ( Shank3B KO) and wildtype littermate control (WT) mice. EEG was recorded via wireless implanted telemeters for 7 days of baseline followed by 20 min of recording following pentylenetetrazol (PTZ) challenge. Behaviors relevant to the diagnostic and associated symptoms of ASD were tested on a battery of established behavioral tests. Assays were designed to reproduce and expand on the original behavioral characterization of Shank3B KO mice. Two or more corroborative tests were conducted within each

  6. Autism

    DEFF Research Database (Denmark)

    Aggernaes, Bodil

    2018-01-01

    The concept of autism has changed across time, from the Bleulerian concept, which defined it as one of several symptoms of dementia praecox, to the present-day concept representing a pervasive development disorder. The present theoretical contribution to this special issue of EJN on autism...... introduces new theoretical ideas and discusses them in light of selected prior theories, clinical examples, and recent empirical evidence. The overall aim is to identify some present challenges of diagnostic practice and autism research and to suggest new pathways that may help direct future research. Future...

  7. Investigation of Autism Spectrum Disorder and Autistic Traits in an Adolescent Sample with Anorexia Nervosa

    Science.gov (United States)

    Postorino, Valentina; Scahill, Lawrence; De Peppo, Lavinia; Fatta, Laura Maria; Zanna, Valeria; Castiglioni, Maria Chiara; Gillespie, Scott; Vicari, Stefano; Mazzone, Luigi

    2017-01-01

    This study aimed to examine the presence of Autism Spectrum Disorder (ASD) in a sample of female adolescents with Anorexia Nervosa (AN) during the acute phase of illness. We also compare the level of autistic traits, social perception skills and obsessive-compulsive symptoms in four groups: AN, ASD, and two gender- and age-matched control groups.…

  8. Investigating the Cross-Cultural Validity of "DSM-5" Autism Spectrum Disorder: Evidence from Finnish and UK Samples

    Science.gov (United States)

    Mandy, William; Charman, Tony; Puura, Kaija; Skuse, David

    2014-01-01

    The recent "Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition" ("DSM-5") reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond…

  9. Sources of variability among replicate samples separated by two-dimensional gel electrophoresis.

    Science.gov (United States)

    Bland, Alison M; Janech, Michael G; Almeida, Jonas S; Arthur, John M

    2010-04-01

    Two-dimensional gel electrophoresis (2DE) offers high-resolution separation for intact proteins. However, variability in the appearance of spots can limit the ability to identify true differences between conditions. Variability can occur at a number of levels. Individual samples can differ because of biological variability. Technical variability can occur during protein extraction, processing, or storage. Another potential source of variability occurs during analysis of the gels and is not a result of any of the causes of variability named above. We performed a study designed to focus only on the variability caused by analysis. We separated three aliquots of rat left ventricle and analyzed differences in protein abundance on the replicate 2D gels. As the samples loaded on each gel were identical, differences in protein abundance are caused by variability in separation or interpretation of the gels. Protein spots were compared across gels by quantile values to determine differences. Fourteen percent of spots had a maximum difference in intensity of 0.4 quantile values or more between replicates. We then looked individually at the spots to determine the cause of differences between the measured intensities. Reasons for differences were: failure to identify a spot (59%), differences in spot boundaries (13%), difference in the peak height (6%), and a combination of these factors (21). This study demonstrates that spot identification and characterization make major contributions to variability seen with 2DE. Methods to highlight why measured protein spot abundance is different could reduce these errors.

  10. Autism.

    Science.gov (United States)

    Levy, Susan E; Mandell, David S; Schultz, Robert T

    2009-11-07

    Autism spectrum disorders are characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviours. Increases over time in the frequency of these disorders (to present rates of about 60 cases per 10,000 children) might be attributable to factors such as new administrative classifications, policy and practice changes, and increased awareness. Surveillance and screening strategies for early identification could enable early treatment and improved outcomes. Autism spectrum disorders are highly genetic and multifactorial, with many risk factors acting together. Genes that affect synaptic maturation are implicated, resulting in neurobiological theories focusing on connectivity and neural effects of gene expression. Several treatments might address core and comorbid symptoms. However, not all treatments have been adequately studied. Improved strategies for early identification with phenotypic characteristics and biological markers (eg, electrophysiological changes) might hopefully improve effectiveness of treatment. Further knowledge about early identification, neurobiology of autism, effective treatments, and the effect of this disorder on families is needed.

  11. Autism.

    Science.gov (United States)

    Parr, Jeremy

    2010-01-07

    Evidence for the efficacy of treatments for autism has improved in recent years. In this systematic review the evidence for both drug and non-drug treatments is appraised and clinical guidance is provided for their use. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of early intensive multidisciplinary intervention programmes in children with autism? What are the effects of dietary interventions in children with autism? What are the effects of drug treatments in children with autism? What are the effects of non-drug treatments in children with autism? We searched: Medline, Embase, The Cochrane Library, and other important databases up to May 2009 (Clinical evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 30 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: applied behavioural analysis; auditory integration training; Autism Preschool Programme; casein-free diet; chelation; Child's Talk programme; cognitive behavioural therapy; digestive enzymes; EarlyBird programme; facilitated communication; Floortime therapy; gluten-free diet; immunoglobulins; melatonin; memantine; methylphenidate; More Than Words programme; music therapy; olanzapine; omega-3 fish oil; picture exchange communication system; Portage scheme; probiotics; relationship development interventions; risperidone; secretin; selective serotonin reuptake inhibitors (SSRIs); sensory integration training; social stories; social skills training; Son-Rise programme; TEACCH

  12. Autism spectrum disorder in a community-based sample with neurodevelopmental problems in Lagos, Nigeria

    Directory of Open Access Journals (Sweden)

    Yewande O. Oshodi

    2017-01-01

    Full Text Available Autism Spectrum Disorder (ASD is a globally prevalent neurodevelopmental disorder for which early diagnosis and intervention is the mainstay of management. In the African continent, limited data is available regarding the non-clinic based samples. Lack of information available to caregivers and inadequate skilled manpower often limit early detection and access to the few available though under resourced services in the community. Community based screening can be an important drive to create awareness and improve information dissemination regarding services available for those living with this disorder. This is a descriptive cross-sectional study utilizing data obtained from participants of a community-based autism screening exercise. The surveillance exercise was part of the annual Orange Ribbon initiative for autism awareness and screening held in 2014. Data was obtained from 85 participants involved in the Autism Surveillance screening exercise within the Lagos community. Community public service radio announcements state wide and word of mouth were used to invite and enroll eligible participants to the screening and consultation exercise. A second stage screening and a brief sociodemographic questionnaire followed by a third stage clinical interview and evaluation using the Diagnostic and Statistical Manual of Mental Disorders - 5 Edition (DSM 5 were used. Appropriate consultation and referrals to services in the community were given. Participants had a mean age of 7.53 years (SD 4.35. Twenty-nine (34.5% met the diagnosis of ASD. Other diagnosis included attention deficit hyperactivity disorder (ADHD, language and speech disorder, intellectual disability (8.3% and learning disorders (9.5%. Main health concerns to caregivers were poor language development in all (100%, of which 11 (40.7% were non-verbal; gaze avoidance was seen in 14 (48.3% and challenging behavior in 12 (42.9%. Comorbidities included seizure disorders (3.4% and ADHD (6

  13. Brief Report: Further Evidence of Sensory Subtypes in Autism

    Science.gov (United States)

    Lane, Alison E.; Dennis, Simon J.; Geraghty, Maureen E.

    2011-01-01

    Distinct sensory processing (SP) subtypes in autism have been reported previously. This study sought to replicate the previous findings in an independent sample of thirty children diagnosed with an Autism Spectrum Disorder. Model-based cluster analysis of parent-reported sensory functioning (measured using the Short Sensory Profile) confirmed the…

  14. Estimating instream constituent loads using replicate synoptic sampling, Peru Creek, Colorado

    Science.gov (United States)

    Runkel, Robert L.; Walton-Day, Katherine; Kimball, Briant A.; Verplanck, Philip L.; Nimick, David A.

    2013-05-01

    SummaryThe synoptic mass balance approach is often used to evaluate constituent mass loading in streams affected by mine drainage. Spatial profiles of constituent mass load are used to identify sources of contamination and prioritize sites for remedial action. This paper presents a field scale study in which replicate synoptic sampling campaigns are used to quantify the aggregate uncertainty in constituent load that arises from (1) laboratory analyses of constituent and tracer concentrations, (2) field sampling error, and (3) temporal variation in concentration from diel constituent cycles and/or source variation. Consideration of these factors represents an advance in the application of the synoptic mass balance approach by placing error bars on estimates of constituent load and by allowing all sources of uncertainty to be quantified in aggregate; previous applications of the approach have provided only point estimates of constituent load and considered only a subset of the possible errors. Given estimates of aggregate uncertainty, site specific data and expert judgement may be used to qualitatively assess the contributions of individual factors to uncertainty. This assessment can be used to guide the collection of additional data to reduce uncertainty. Further, error bars provided by the replicate approach can aid the investigator in the interpretation of spatial loading profiles and the subsequent identification of constituent source areas within the watershed. The replicate sampling approach is applied to Peru Creek, a stream receiving acidic, metal-rich effluent from the Pennsylvania Mine. Other sources of acidity and metals within the study reach include a wetland area adjacent to the mine and tributary inflow from Cinnamon Gulch. Analysis of data collected under low-flow conditions indicates that concentrations of Al, Cd, Cu, Fe, Mn, Pb, and Zn in Peru Creek exceed aquatic life standards. Constituent loading within the study reach is dominated by effluent

  15. Estimating instream constituent loads using replicate synoptic sampling, Peru Creek, Colorado

    Science.gov (United States)

    Runkel, Robert L.; Walton-Day, Katherine; Kimball, Briant A.; Verplanck, Philip L.; Nimick, David A.

    2013-01-01

    The synoptic mass balance approach is often used to evaluate constituent mass loading in streams affected by mine drainage. Spatial profiles of constituent mass load are used to identify sources of contamination and prioritize sites for remedial action. This paper presents a field scale study in which replicate synoptic sampling campaigns are used to quantify the aggregate uncertainty in constituent load that arises from (1) laboratory analyses of constituent and tracer concentrations, (2) field sampling error, and (3) temporal variation in concentration from diel constituent cycles and/or source variation. Consideration of these factors represents an advance in the application of the synoptic mass balance approach by placing error bars on estimates of constituent load and by allowing all sources of uncertainty to be quantified in aggregate; previous applications of the approach have provided only point estimates of constituent load and considered only a subset of the possible errors. Given estimates of aggregate uncertainty, site specific data and expert judgement may be used to qualitatively assess the contributions of individual factors to uncertainty. This assessment can be used to guide the collection of additional data to reduce uncertainty. Further, error bars provided by the replicate approach can aid the investigator in the interpretation of spatial loading profiles and the subsequent identification of constituent source areas within the watershed.The replicate sampling approach is applied to Peru Creek, a stream receiving acidic, metal-rich effluent from the Pennsylvania Mine. Other sources of acidity and metals within the study reach include a wetland area adjacent to the mine and tributary inflow from Cinnamon Gulch. Analysis of data collected under low-flow conditions indicates that concentrations of Al, Cd, Cu, Fe, Mn, Pb, and Zn in Peru Creek exceed aquatic life standards. Constituent loading within the study reach is dominated by effluent from the

  16. The Structure of The Extended Psychosis Phenotype in Early Adolescence—A Cross-sample Replication

    Science.gov (United States)

    Wigman, Johanna T. W.; Vollebergh, Wilma A. M.; Raaijmakers, Quinten A. W.; Iedema, Jurjen; van Dorsselaer, Saskia; Ormel, Johan; Verhulst, Frank C.; van Os, Jim

    2011-01-01

    The extended psychosis phenotype, or the expression of nonclinical positive psychotic experiences, is already prevalent in adolescence and has a dose-response risk relationship with later psychotic disorder. In 2 large adolescent general population samples (n = 5422 and n = 2230), prevalence and structure of the extended psychosis phenotype was investigated. Positive psychotic experiences, broadly defined, were reported by the majority of adolescents. Exploratory analysis with Structural Equation Modelling (Exploratory Factor Analysis followed by Confirmatory Factor Analysis [CFA]) in sample 1 suggested that psychotic experiences were best represented by 5 underlying dimensions; CFA in sample 2 provided a replication of this model. Dimensions were labeled Hallucinations, Delusions, Paranoia, Grandiosity, and Paranormal beliefs. Prevalences differed strongly, Hallucinations having the lowest and Paranoia having the highest rates. Girls reported more experiences on all dimensions, except Grandiosity, and from age 12 to 16 years rates increased. Hallucinations, Delusions, and Paranoia, but not Grandiosity and Paranormal beliefs, were associated with distress and general measures of psychopathology. Thus, only some of the dimensions of the extended psychosis phenotype in young people may represent a continuum with more severe psychopathology and predict later psychiatric disorder. PMID:20044595

  17. The Betel Quid Dependence Scale: replication and extension in a Guamanian sample.

    Science.gov (United States)

    Herzog, Thaddeus A; Murphy, Kelle L; Little, Melissa A; Suguitan, Gil S; Pokhrel, Pallav; Kawamoto, Crissy T

    2014-05-01

    Betel quid is the fourth most commonly consumed psychoactive substance in the world. The Betel Quid Dependence Scale (BQDS) is the first instrument designed specifically to measure betel quid dependence. The three factor structure of the BQDS consists of "physical and psychological urgent need," "increasing dose," and "maladaptive use." The BQDS initially was validated in a sample of male prisoner ex-chewers in Taiwan. To replicate and extend the original validation research on the BQDS in a sample of male and female current betel quid chewers in Guam. A survey containing the BQDS was administered to 300 current betel quid chewers in Guam. Participants were compensated for their time with a gift card worth $25. Confirmatory factor analysis revealed an adequate fit with the hypothesized three-factor measurement model. ANOVAs and structural equations modeling revealed that betel quid dependence is associated with the inclusion of tobacco in the quid, number of chews per day, years of chewing, and education. The BQDS is valid for current English-speaking male and female chewers in Guam. Overall levels of betel quid dependence were high, and most chewers included tobacco in their betel quid. The results suggest that levels of dependence for betel quid are similar to those observed for nicotine dependence. Future research should explore other important psychological and behavioral aspects of betel quid chewing such as health risk perceptions and motivation to quit chewing. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  18. Replicability of time-varying connectivity patterns in large resting state fMRI samples.

    Science.gov (United States)

    Abrol, Anees; Damaraju, Eswar; Miller, Robyn L; Stephen, Julia M; Claus, Eric D; Mayer, Andrew R; Calhoun, Vince D

    2017-12-01

    The past few years have seen an emergence of approaches that leverage temporal changes in whole-brain patterns of functional connectivity (the chronnectome). In this chronnectome study, we investigate the replicability of the human brain's inter-regional coupling dynamics during rest by evaluating two different dynamic functional network connectivity (dFNC) analysis frameworks using 7 500 functional magnetic resonance imaging (fMRI) datasets. To quantify the extent to which the emergent functional connectivity (FC) patterns are reproducible, we characterize the temporal dynamics by deriving several summary measures across multiple large, independent age-matched samples. Reproducibility was demonstrated through the existence of basic connectivity patterns (FC states) amidst an ensemble of inter-regional connections. Furthermore, application of the methods to conservatively configured (statistically stationary, linear and Gaussian) surrogate datasets revealed that some of the studied state summary measures were indeed statistically significant and also suggested that this class of null model did not explain the fMRI data fully. This extensive testing of reproducibility of similarity statistics also suggests that the estimated FC states are robust against variation in data quality, analysis, grouping, and decomposition methods. We conclude that future investigations probing the functional and neurophysiological relevance of time-varying connectivity assume critical importance. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  19. Overweight and Obesity: Prevalence and Correlates in a Large Clinical Sample of Children with Autism Spectrum Disorder

    Science.gov (United States)

    Zuckerman, Katharine E.; Hill, Alison P.; Guion, Kimberly; Voltolina, Lisa; Fombonne, Eric

    2014-01-01

    Autism Spectrum Disorders (ASDs) and childhood obesity (OBY) are rising public health concerns. This study aimed to evaluate the prevalence of overweight (OWT) and OBY in a sample of 376 Oregon children with ASD, and to assess correlates of OWT and OBY in this sample. We used descriptive statistics, bivariate, and focused multivariate analyses to…

  20. Diagnosing Autism in Adults with Intellectual Disability: Validation of the DiBAS-R in an Independent Sample

    Science.gov (United States)

    Heinrich, Manuel; Böhm, Julia; Sappok, Tanja

    2018-01-01

    The study assessed the diagnostic validity of the diagnostic behavioral assessment for autism spectrum disorders-revised (DiBAS-R; 19-item screening scale based on ratings by caregivers) in a clinical sample of 381 adults with ID. Analysis revealed a sensitivity of 0.82 and a specificity of 0.67 in the overall sample (70.3% agreement). Sensitivity…

  1. Examining the Validity of Cyclothymic Disorder in a Youth Sample: Replication and Extension

    Science.gov (United States)

    Van Meter, Anna; Youngstrom, Eric A.; Demeter, Christine; Findling, Robert L.

    2013-01-01

    DSM-IV-TR defines four subtypes of bipolar disorder (BP): bipolar I, bipolar II, cyclothymic disorder and bipolar not otherwise specified (NOS). However, cyclothymic disorder in children is rarely researched, or often subsumed in an "NOS" category. The present study tests the replicability of findings from an earlier study, and expands on the…

  2. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.

    LENUS (Irish Health Repository)

    Anney, Richard J L

    2012-02-01

    Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test methodology described by O\\'Dushlaine et al to over 2100 families from the Autism Genome Project (AGP). Using a two-stage design we examine association enrichment in 5955 unique gene-ontology classifications across four groupings based on two phenotypic and two ancestral classifications. Based on estimates from simulation we identify excess of association enrichment across all analyses. We observe enrichment in association for sets of genes involved in diverse biological processes, including pyruvate metabolism, transcription factor activation, cell-signalling and cell-cycle regulation. Both genes and processes that show enrichment have previously been examined in autistic disorders and offer biologically plausibility to these findings.

  3. A Replication and Extension of the PEERS® for Young Adults Social Skills Intervention: Examining Effects on Social Skills and Social Anxiety in Young Adults with Autism Spectrum Disorder

    Science.gov (United States)

    McVey, Alana J.; Dolan, Bridget K.; Willar, Kirsten S.; Pleiss, Sheryl; Karst, Jeffrey S.; Casnar, Christina L.; Caiozzo, Christina; Vogt, Elisabeth M.; Gordon, Nakia S.; Van Hecke, Amy Vaughan

    2016-01-01

    Young adults with ASD experience difficulties with social skills, empathy, loneliness, and social anxiety. One intervention, "PEERS® for Young Adults," shows promise in addressing these challenges. The present study replicated and extended the original study by recruiting a larger sample (N = 56), employing a gold standard ASD assessment…

  4. Cascading effects of attention disengagement and sensory seeking on social symptoms in a community sample of infants at-risk for a future diagnosis of autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Grace T. Baranek

    2018-01-01

    Full Text Available Recent work suggests sensory seeking predicts later social symptomatology through reduced social orienting in infants who are at high-risk for autism spectrum disorder (ASD based on their status as younger siblings of children diagnosed with ASD. We drew on extant longitudinal data from a community sample of at-risk infants who were identified at 12 months using the First Year Inventory, and followed to 3–5 years. We replicate findings of Damiano et al. (in this issue that a high-risk infants who go on to be diagnosed with ASD show heightened sensory seeking in the second year of life relative to those who do not receive a diagnosis, and b increased sensory seeking indirectly relates to later social symptomatology via reduced social orienting. We extend previous findings to show that sensory seeking has more clinical utility later in the second year of life (20–24 months than earlier (13–15 months. Further, this study suggests that diminished attention disengagement at 12–15 months may precede and predict increased sensory seeking at 20–24 months. Findings add support for the notion that sensory features produce cascading effects on social development in infants at risk for ASD, and suggest that reduced attention disengagement early in life may set off this cascade. Keywords: Sensory features, Autism, Infants, Social, Longitudinal, Attention, Risk markers

  5. Similar brain activation during false belief tasks in a large sample of adults with and without autism.

    Science.gov (United States)

    Dufour, Nicholas; Redcay, Elizabeth; Young, Liane; Mavros, Penelope L; Moran, Joseph M; Triantafyllou, Christina; Gabrieli, John D E; Saxe, Rebecca

    2013-01-01

    Reading about another person's beliefs engages 'Theory of Mind' processes and elicits highly reliable brain activation across individuals and experimental paradigms. Using functional magnetic resonance imaging, we examined activation during a story task designed to elicit Theory of Mind processing in a very large sample of neurotypical (N = 462) individuals, and a group of high-functioning individuals with autism spectrum disorders (N = 31), using both region-of-interest and whole-brain analyses. This large sample allowed us to investigate group differences in brain activation to Theory of Mind tasks with unusually high sensitivity. There were no differences between neurotypical participants and those diagnosed with autism spectrum disorder. These results imply that the social cognitive impairments typical of autism spectrum disorder can occur without measurable changes in the size, location or response magnitude of activity during explicit Theory of Mind tasks administered to adults.

  6. Similar brain activation during false belief tasks in a large sample of adults with and without autism.

    Directory of Open Access Journals (Sweden)

    Nicholas Dufour

    Full Text Available Reading about another person's beliefs engages 'Theory of Mind' processes and elicits highly reliable brain activation across individuals and experimental paradigms. Using functional magnetic resonance imaging, we examined activation during a story task designed to elicit Theory of Mind processing in a very large sample of neurotypical (N = 462 individuals, and a group of high-functioning individuals with autism spectrum disorders (N = 31, using both region-of-interest and whole-brain analyses. This large sample allowed us to investigate group differences in brain activation to Theory of Mind tasks with unusually high sensitivity. There were no differences between neurotypical participants and those diagnosed with autism spectrum disorder. These results imply that the social cognitive impairments typical of autism spectrum disorder can occur without measurable changes in the size, location or response magnitude of activity during explicit Theory of Mind tasks administered to adults.

  7. The Added Value of the Combined Use of the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule: Diagnostic Validity in a Clinical Swedish Sample of Toddlers and Young Preschoolers

    Science.gov (United States)

    Zander, Eric; Sturm, Harald; Bölte, Sven

    2015-01-01

    The diagnostic validity of the new research algorithms of the Autism Diagnostic Interview-Revised and the revised algorithms of the Autism Diagnostic Observation Schedule was examined in a clinical sample of children aged 18-47 months. Validity was determined for each instrument separately and their combination against a clinical consensus…

  8. Investigation of Autism Spectrum Disorder and Autistic Traits in an Adolescent Sample with Anorexia Nervosa.

    Science.gov (United States)

    Postorino, Valentina; Scahill, Lawrence; De Peppo, Lavinia; Fatta, Laura Maria; Zanna, Valeria; Castiglioni, Maria Chiara; Gillespie, Scott; Vicari, Stefano; Mazzone, Luigi

    2017-04-01

    This study aimed to examine the presence of Autism Spectrum Disorder (ASD) in a sample of female adolescents with Anorexia Nervosa (AN) during the acute phase of illness. We also compare the level of autistic traits, social perception skills and obsessive-compulsive symptoms in four groups: AN, ASD, and two gender- and age-matched control groups. Of the 30 AN participants, only three scored above the conventional ADOS-2 threshold for ASD. The AN participants were similar to their controls on autistic trait measures, and to the ASD group on obsessive-compulsive measures, and on theory of mind ability and affect recognition measures. Further longitudinal studies are needed in order to determine the association between these conditions.

  9. The Association of Quality of Social Relations, Symptom Severity and Intelligence with Anxiety in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Eussen, Mart L. J. M.; Van Gool, Arthur R.; Verheij, Fop; De Nijs, Pieter F. A.; Verhulst, Frank C.; Greaves-Lord, Kirstin

    2013-01-01

    Limited quality of social relations, milder symptom severity and higher intelligence were shown to account for higher anxiety levels in autism spectrum disorders. The current study replicated and extended earlier findings by combining these three determinants of anxiety in autism spectrum disorders in one study. The sample consisted of 134…

  10. One-year prospective replication study of an untreated sample of community dysthymia subjects.

    Science.gov (United States)

    McCullough, J P; McCune, K J; Kaye, A L; Braith, J A; Friend, R; Roberts, W C; Belyea-Caldwell, S; Norris, S L; Hampton, C

    1994-07-01

    This study replicates an earlier naturalistic-prospective investigation of nontreatment, community DSM-III-R dysthymia subjects. Major goals were to determine spontaneous remission rates and monitor the stability of psychosocial functioning levels over time. Twenty-four dysthymia subjects were followed for 1 year. Three remissions (13%) were diagnosed at the final interview. At a 4-year diagnostic follow-up contact with the remitters only, one remitter had relapsed and two remained in remission. Subjects were monitored for depressive symptom intensity, personality functioning, general medical distress, cognitive functioning, coping stylistics, interpersonal functioning, quality of their social support resources, and general family functioning. Stable levels of psychosocial functioning were maintained across all measures over the 1-year period. Current psychometric findings confirm the conclusions of the earlier nontreatment prospective study that dysthymia is a chronic mood disorder with stable psychosocial features and is unlikely to remit spontaneously over time.

  11. A Cross-Cultural Exploration of the Everyday Social Participation of Individuals with Autism Spectrum Disorders in Australia and Taiwan: An Experience Sampling Study

    Science.gov (United States)

    Chen, Yu-Wei; Bundy, Anita C.; Cordier, Reinie; Chien, Yi-Ling; Einfeld, Stewart L.

    2017-01-01

    Individuals with an autism spectrum disorder commonly have limited social participation. This study aimed to examine the similarities and differences of everyday participation among males and females with autism spectrum disorder in Australia and Taiwan, using an experience sampling methodology. A total of 14 Australians (4 males, aged 16-43…

  12. Sexuality in a Community Based Sample of Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Gilmour, Laura; Schalomon, P. Melike; Smith, Veronica

    2012-01-01

    Few studies have examined the sexual attitudes and behaviours of individuals with high functioning autism spectrum disorders (ASDs) living in community settings. A total of 82 (55 female and 17 male) adults with autism were contrasted with 282 members of the general population on their responses to an online survey of sexual knowledge and…

  13. Characteristics of autism spectrum disorders in a sample of egyptian and saudi patients: transcultural cross sectional study

    Directory of Open Access Journals (Sweden)

    Hussein Hanan

    2011-11-01

    Full Text Available Abstract Background Autism is a biological disorder with clearly defined phenomenology. Studies from the Middle East on this topic have been particularly rare. Little is known about the influence of culture on clinical features, presentations and management of autism. The current study was done to compare characteristics of autism in two groups of Egyptian as well as Saudi children. Methods The sample included 48 children with Autism Spectrum Disorder. They were recruited from the Okasha Institute of Psychiatry, Ain Shams University, Cairo, Egypt and Al-Amal Complex for Mental Health, Dammam, Kingdom of Saudi Arabia. They were grouped into an Egyptian group (n = 20 and a Saudi group (n = 28. They were assessed both clinically and psychometrically using the GARS, the Vineland adaptive behavioral scale, and the Stanford Binnet IQ test. Results Typical autism was more prevalent than atypical autism in both groups. There were no statistically significant differences in clinical variables like regression, hyperactivity, epilepsy or mental retardation. Delayed language development was significantly higher in the Egyptian group while delay in all developmental milestones was more significant in the Saudi group. The Vineland communication subscale showed more significant severe and profound communication defects in the Saudi group while the Gilliam developmental subscale showed significantly more average scores in the Egyptian group. Both groups differed significantly such that the age of noticing abnormality was younger in the Saudi group. The age at diagnosis and at the commencement of intervention was lower in the Egyptian group. The Saudi group showed a higher percentage of missing examinations, older birth order and significantly higher preference to drug treatment, while the Egyptian group showed a high preference to behavioral and phoniatric therapies, higher paternal and maternal education, higher employment among parents and higher family

  14. Lack of association between digit ratio (2D:4D) and assertiveness: replication in a large sample.

    Science.gov (United States)

    Voracek, Martin

    2009-12-01

    Findings regarding within-sex associations of digit ratio (2D:4D), a putative pointer to long-lasting effects of prenatal androgen action, and sexually differentiated personality traits have generally been inconsistent or unreplicable, suggesting that effects in this domain, if any, are likely small. In contrast to evidence from Wilson's important 1983 study, a forerunner of modern 2D:4D research, two recent studies in 2005 and 2008 by Freeman, et al. and Hampson, et al. showed assertiveness, a presumably male-typed personality trait, was not associated with 2D:4D; however, these studies were clearly statistically underpowered. Hence this study examined this question anew, based on a large sample of 491 men and 627 women. Assertiveness was only modestly sexually differentiated, favoring men, and a positive correlate of age and education and a negative correlate of weight and Body Mass Index among women, but not men. Replicating the two prior studies, 2D:4D was throughout unrelated to assertiveness scores. This null finding was preserved with controls for correlates of assertiveness, also in nonparametric analysis and with tests for curvilinear relations. Discussed are implications of this specific null finding, now replicated in a large sample, for studies of 2D:4D and personality in general and novel research approaches to proceed in this field.

  15. The Structure of The Extended Psychosis Phenotype in Early Adolescence-A Cross-sample Replication

    NARCIS (Netherlands)

    Wigman, Johanna T. W.; Vollebergh, Wilma A. M.; Raaijmakers, Quinten A. W.; Iedema, Jurjen; van Dorsselaer, Saskia; Ormel, Johan; Verhulst, Frank C.; van Os, Jim

    The extended psychosis phenotype, or the expression of nonclinical positive psychotic experiences, is already prevalent in adolescence and has a dose-response risk relationship with later psychotic disorder. In 2 large adolescent general population samples (n = 5422 and n = 2230), prevalence and

  16. Diverse replication-associated protein encoding circular DNA viruses in guano samples of Central-Eastern European bats.

    Science.gov (United States)

    Kemenesi, Gábor; Kurucz, Kornélia; Zana, Brigitta; Földes, Fanni; Urbán, Péter; Vlaschenko, Anton; Kravchenko, Kseniia; Budinski, Ivana; Szodoray-Parádi, Farkas; Bücs, Szilárd; Jére, Csaba; Csősz, István; Szodoray-Parádi, Abigél; Estók, Péter; Görföl, Tamás; Boldogh, Sándor; Jakab, Ferenc

    2018-03-01

    Circular replication-associated protein encoding single-stranded DNA (CRESS DNA) viruses are increasingly recognized worldwide in a variety of samples. Representative members include well-described veterinary pathogens with worldwide distribution, such as porcine circoviruses or beak and feather disease virus. In addition, numerous novel viruses belonging to the family Circoviridae with unverified pathogenic roles have been discovered in different human samples. Viruses of the family Genomoviridae have also been described as being highly abundant in different faecal and environmental samples, with case reports showing them to be suspected pathogens in human infections. In order to investigate the genetic diversity of these viruses in European bat populations, we tested guano samples from Georgia, Hungary, Romania, Serbia and Ukraine. This resulted in the detection of six novel members of the family Circoviridae and two novel members of the family Genomoviridae. Interestingly, a gemini-like virus, namely niminivirus, which was originally found in raw sewage samples in Nigeria, was also detected in our samples. We analyzed the nucleotide composition of members of the family Circoviridae to determine the possible host origins of these viruses. This study provides the first dataset on CRESS DNA viruses of European bats, and members of several novel viral species were discovered.

  17. The impact of acute stress on the neural processing of food cues in bulimia nervosa: Replication in two samples.

    Science.gov (United States)

    Collins, Brittany; Breithaupt, Lauren; McDowell, Jennifer E; Miller, L Stephen; Thompson, James; Fischer, Sarah

    2017-07-01

    The impact of acute stress on the neural processing of food cues in bulimia nervosa (BN) is unknown, despite theory that acute stress decreases cognitive control over food and hence increases vulnerability to environmental triggers for binge eating. Thus, the goals of this manuscript were to explore the impact of acute stress on the neural processing of food cues in BN. In Study 1, 10 women with Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5; American Psychiatric Association, 2013) BN and 10 healthy controls participated in an fMRI paradigm examining the neural correlates of visual food cue processing pre and post an acute stress induction. Whole brain analysis indicated that women with BN exhibited significant decreases in activation in the precuneus, associated with self-referential processing, the paracingulate gyrus, and the anterior vermis of the cerebellum. Healthy controls exhibited increased activation in these regions in response to food cues poststress. In Study 2, 17 women with DSM-5 BN or otherwise specified feeding and eating disorder with BN symptoms participated in the same paradigm. A region of interest analysis replicated findings from Study 1. Replication of imaging findings in 2 different samples suggests the potential importance of these regions in relation to BN. Decreased activation in the precuneus, specifically, is consistent with models of BN that posit that binge eating serves as a concrete distraction from aversive internal stimuli. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  18. Characteristics of Children Who Lost the Diagnosis of Autism: A Sample from Istanbul, Turkey

    Directory of Open Access Journals (Sweden)

    Nahit Motavalli Mukaddes

    2014-01-01

    Full Text Available Aim. The aim of this study was to describe a group of children who lost a diagnosis of autism following participation in early educational programs. Method. This is a descriptive study reporting the characteristics of children (n: 39 who lost their diagnosis of autism and explaining the educational programs that these children followed. The data were collected by reviewing the participants’ files and through examinations. Results. All of the children were placed at regular psychiatric follow-ups. The mean age at referral was 2.39±0.75 years, whereas the mean age at the time of optimal outcome reported was 5.11±1.95 years. Two of the children were in early intensive behavioral intervention (EIBI, and the rest were in a comprehensive naturalistic behavioral program. The childhood autism rating scale (CARS total scores at baseline and final were 32.75±3.15 and 18.01±1.76, respectively. The mean IQ of the group at final examination was 116.70±18.88. Conclusion. It could be concluded that a group of children with an autism diagnosis could lose the diagnosis of autism upon early intervention. High IQ and the development of communicative and language skills at an early age could be the most powerful factors contributing to an optimal outcome.

  19. Prescribing Patterns in a Psychiatrically Referred Sample of Youth With Autism Spectrum Disorder.

    Science.gov (United States)

    Shekunov, Julia; Wozniak, Janet; Conroy, Kristina; Pinsky, Elizabeth; Fitzgerald, Maura; de Leon, Melissa F; Belser, Abigail; Biederman, Joseph; Joshi, Gagan

    The aim of this study was to examine the pattern of psychopharmacologic interventions in a psychiatrically referred sample of youth with autism spectrum disorder (ASD). This retrospective chart review aimed at collecting demographic and clinical information, including data on DSM-IV-TR criteria-based psychiatric disorders and related current medication treatment and response. Data were collected in December 2011. Clinicians identified the target disorder for each medication and any adverse events. Level of psychopathology and therapeutic response was assessed by the clinician-rated Clinical Global Impressions scale (CGI). Psychiatrically referred youth with ASD (n = 54) suffered from multiple psychopathologies (mean = 2.3) and had a marked level of morbidity (range of baseline CGI-Severity of Illness mean scores, 4.3-5.6). The most prevalent psychopathology was ADHD (83%), anxiety disorders (67%), bipolar spectrum disorder (43%), and mood disorder not otherwise specified (44%). The majority (80%) of the subjects received combination therapy (mean ± SD number of psychotropic medications = 3 ± 1.5). Forty percent of the participants responded on all treatment target symptoms (CGI-Improvement scale score ≤ 2), and an additional 10% experienced response versus nonresponse on a relatively greater number of target symptoms. Half of the subjects reported an adverse event, most commonly weight gain (28%) and sedation (12%), both from antipsychotic medication use. Psychiatrically referred youth with ASD suffer from multiple highly impairing psychiatric disorders that require combination pharmacotherapy. These findings highlight the need for further research to guide clinical decision-making and treatment. © Copyright 2017 Physicians Postgraduate Press, Inc.

  20. Prevalence of overweight and obesity in a large clinical sample of children with autism.

    Science.gov (United States)

    Broder-Fingert, Sarabeth; Brazauskas, Karissa; Lindgren, Kristen; Iannuzzi, Dorothea; Van Cleave, Jeanne

    2014-01-01

    Overweight and obesity are major pediatric public health problems in the United States; however, limited data exist on the prevalence and correlates of overnutrition in children with autism. Through a large integrated health care system's patient database, we identified 6672 children ages 2 to 20 years with an assigned ICD-9 code of autism (299.0), Asperger syndrome (299.8), and control subjects from 2008 to 2011 who had at least 1 weight and height recorded in the same visit. We calculated age-adjusted, sex-adjusted body mass index and classified children as overweight (body mass index 85th to 95th percentile) or obese (≥ 95th percentile). We used multinomial logistic regression to compare the odds of overweight and obesity between groups. We then used logistic regression to evaluate factors associated with overweight and obesity in children with autism, including demographic and clinical characteristics. Compared to control subjects, children with autism and Asperger syndrome had significantly higher odds of overweight (odds ratio, 95% confidence interval: autism 2.24, 1.74-2.88; Asperger syndrome 1.49, 1.12-1.97) and obesity (autism 4.83, 3.85-6.06; Asperger syndrome 5.69, 4.50-7.21). Among children with autism, we found a higher odds of obesity in older children (aged 12-15 years 1.87, 1.33-2.63; aged 16-20 years 1.94, 1.39-2.71) compared to children aged 6 to 11 years. We also found higher odds of overweight and obesity in those with public insurance (overweight 1.54, 1.25-1.89; obese 1.16, 1.02-1.40) and with co-occurring sleep disorder (obese 1.23, 1.00-1.53). Children with autism and Asperger syndrome had significantly higher odds of overweight and obesity than control subjects. Older age, public insurance, and co-occurring sleep disorder were associated with overweight or obesity in this population. Copyright © 2014 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  1. Cascading effects of attention disengagement and sensory seeking on social symptoms in a community sample of infants at-risk for a future diagnosis of autism spectrum disorder.

    Science.gov (United States)

    Baranek, Grace T; Woynaroski, Tiffany G; Nowell, Sallie; Turner-Brown, Lauren; DuBay, Michaela; Crais, Elizabeth R; Watson, Linda R

    2018-01-01

    Recent work suggests sensory seeking predicts later social symptomatology through reduced social orienting in infants who are at high-risk for autism spectrum disorder (ASD) based on their status as younger siblings of children diagnosed with ASD. We drew on extant longitudinal data from a community sample of at-risk infants who were identified at 12 months using the First Year Inventory, and followed to 3-5 years. We replicate findings of Damiano et al. (in this issue) that a) high-risk infants who go on to be diagnosed with ASD show heightened sensory seeking in the second year of life relative to those who do not receive a diagnosis, and b) increased sensory seeking indirectly relates to later social symptomatology via reduced social orienting. We extend previous findings to show that sensory seeking has more clinical utility later in the second year of life (20-24 months) than earlier (13-15 months). Further, this study suggests that diminished attention disengagement at 12-15 months may precede and predict increased sensory seeking at 20-24 months. Findings add support for the notion that sensory features produce cascading effects on social development in infants at risk for ASD, and suggest that reduced attention disengagement early in life may set off this cascade. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder

    OpenAIRE

    Rutherford, Marion; McKenzie, K; Johnson, T; Catchpole, C; OHare, A; McClure, I; Forsyth, Kirsty; McCartney, Deborah; Murray, A

    2016-01-01

    This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish children and adults recently diagnosed with autism spectrum disorder. The study reports key findings that the gender ratio in this consecutively referred...

  3. Autism Diagnostic Interview-Revised (ADI-R) Algorithms for Toddlers and Young Preschoolers: Application in a Non-US Sample of 1,104 Children

    Science.gov (United States)

    de Bildt, Annelies; Sytema, Sjoerd; Zander, Eric; Bölte, Sven; Sturm, Harald; Yirmiya, Nurit; Yaari, Maya; Charman, Tony; Salomone, Erica; LeCouteur, Ann; Green, Jonathan; Bedia, Ricardo Canal; Primo, Patricia García; van Daalen, Emma; de Jonge, Maretha V.; Guðmundsdóttir, Emilía; Jóhannsdóttir, Sigurrós; Raleva, Marija; Boskovska, Meri; Rogé, Bernadette; Baduel, Sophie; Moilanen, Irma; Yliherva, Anneli; Buitelaar, Jan; Oosterling, Iris J.

    2015-01-01

    The current study aimed to investigate the Autism Diagnostic Interview-Revised (ADI-R) algorithms for toddlers and young preschoolers (Kim and Lord, "J Autism Dev Disord" 42(1):82-93, 2012) in a non-US sample from ten sites in nine countries (n = 1,104). The construct validity indicated a good fit of the algorithms. The diagnostic…

  4. Identifying High Ability Children with DSM-5 Autism Spectrum or Social Communication Disorder: Performance on Autism Diagnostic Instruments

    Science.gov (United States)

    Foley-Nicpon, Megan; Fosenburg, Staci L.; Wurster, Kristin G.; Assouline, Susan G.

    2017-01-01

    This study was a replication of Mazefsky et al.'s ("Journal of Autism and Developmental Disabilities" 43:1236-1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine…

  5. Depression Symptoms in Boys with Autism Spectrum Disorder and Comparison Samples

    Science.gov (United States)

    Gadow, Kenneth D.; Guttmann-Steinmetz, Sarit; Rieffe, Carolien; DeVincent, Carla J.

    2012-01-01

    This study compares severity of specific depression symptoms in boys with autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), or chronic multiple tic disorder (CMTD) and typically developing boys (Controls). Children were evaluated with parent and teacher versions of the Child Symptom Inventory-4 (CSI-4) and a…

  6. Phenotypic Characteristics of Autism Spectrum Disorder in a Diverse Sample of Somali and Other Children

    Science.gov (United States)

    Esler, Amy N.; Hall-Lande, Jennifer; Hewitt, Amy

    2017-01-01

    The potential for culture to impact diagnosis of autism spectrum disorder (ASD) is high, yet remains largely unstudied. This study examined differences across racial/ethnic groups in ASD symptoms, cognitive and adaptive skills, and related behaviors in children with ASD that included a unique subgroup, children from the Somali diaspora. Somali…

  7. Unsupervised Categorization in a Sample of Children with Autism Spectrum Disorders

    Science.gov (United States)

    Edwards, Darren J.; Perlman, Amotz; Reed, Phil

    2012-01-01

    Studies of supervised Categorization have demonstrated limited Categorization performance in participants with autism spectrum disorders (ASD), however little research has been conducted regarding unsupervised Categorization in this population. This study explored unsupervised Categorization using two stimulus sets that differed in their…

  8. Reduced cortico-motor facilitation in a normal sample with high traits of autism.

    Science.gov (United States)

    Puzzo, Ignazio; Cooper, Nicholas R; Vetter, Petra; Russo, Riccardo; Fitzgerald, Paul B

    2009-12-25

    Recent research in social neuroscience proposes a link between mirror neuron system (MNS) and social cognition. The MNS has been proposed to be the neural mechanism underlying action recognition and intention understanding and more broadly social cognition. Pre-motor MNS has been suggested to modulate the motor cortex during action observation. This modulation results in an enhanced cortico-motor excitability reflected in increased motor evoked potentials (MEPs) at the muscle of interest during action observation. Anomalous MNS activity has been reported in the autistic population whose social skills are notably impaired. It is still an open question whether traits of autism in the normal population are linked to the MNS functioning. We measured TMS-induced MEPs in normal individuals with high and low traits of autism as measured by the autistic quotient (AQ), while observing videos of hand or mouth actions, static images of a hand or mouth or a blank screen. No differences were observed between the two while they observed a blank screen. However participants with low traits of autism showed significantly greater MEP amplitudes during observation of hand/mouth actions relative to static hand/mouth stimuli. In contrast, participants with high traits of autism did not show such a MEP amplitude difference between observation of actions and static stimuli. These results are discussed with reference to MNS functioning.

  9. A Replication and Extension of the PEERS® for Young Adults Social Skills Intervention: Examining Effects on Social Skills and Social Anxiety in Young Adults with Autism Spectrum Disorder.

    Science.gov (United States)

    McVey, Alana J; Dolan, Bridget K; Willar, Kirsten S; Pleiss, Sheryl; Karst, Jeffrey S; Casnar, Christina L; Caiozzo, Christina; Vogt, Elisabeth M; Gordon, Nakia S; Van Hecke, Amy Vaughan

    2016-12-01

    Young adults with ASD experience difficulties with social skills, empathy, loneliness, and social anxiety. One intervention, PEERS® for Young Adults, shows promise in addressing these challenges. The present study replicated and extended the original study by recruiting a larger sample (N = 56), employing a gold standard ASD assessment tool, and examining changes in social anxiety utilizing a randomized controlled trial design. Results indicated improvements in social responsiveness (SSIS-RS SS, p = .006 and CPB, p = .005; SRS, p = .004), PEERS® knowledge (TYASSK, p = .001), empathy (EQ, p = .044), direct interactions (QSQ-YA, p = .059), and social anxiety (LSAS-SR, p = .019). Findings demonstrate further empirical support for the intervention for individuals with ASD.

  10. Gender differences in autism spectrum disorders: Divergence among specific core symptoms.

    Science.gov (United States)

    Beggiato, Anita; Peyre, Hugo; Maruani, Anna; Scheid, Isabelle; Rastam, Maria; Amsellem, Frederique; Gillberg, Carina I; Leboyer, Marion; Bourgeron, Thomas; Gillberg, Christopher; Delorme, Richard

    2017-04-01

    Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P gender bias thus induced may participate in the underestimation of the prevalence of ASD in females. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 680-689. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  11. Proteomic explorations of autism spectrum disorder.

    Science.gov (United States)

    Szoko, Nicholas; McShane, Adam J; Natowicz, Marvin R

    2017-09-01

    Proteomics, the large-scale study of protein expression in cells and tissues, is a powerful tool to study the biology of clinical conditions and has provided significant insights in many experimental systems. Herein, we review the basics of proteomic methodology and discuss challenges in using proteomic approaches to study autism. Unlike other experimental approaches, such as genomic approaches, there have been few large-scale studies of proteins in tissues from persons with autism. Most of the proteomic studies on autism used blood or other peripheral tissues; few studies used brain tissue. Some studies found dysregulation of aspects of the immune system or of aspects of lipid metabolism, but no consistent findings were noted. Based on the challenges in using proteomics to study autism, we discuss considerations for future studies. Apart from the complex technical considerations implicit in any proteomic analysis, key nontechnical matters include attention to subject and specimen inclusion/exclusion criteria, having adequate sample size to ensure appropriate powering of the study, attention to the state of specimens prior to proteomic analysis, and the use of a replicate set of specimens, when possible. We conclude by discussing some potentially productive uses of proteomics, potentially coupled with other approaches, for future autism research including: (1) proteomic analysis of banked human brain specimens; (2) proteomic analysis of tissues from animal models of autism; and (3) proteomic analysis of induced pluripotent stem cells that are differentiated into various types of brain cells and neural organoids. Autism Res 2017, 10: 1460-1469. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  12. A Tumor-stroma Targeted Oncolytic Adenovirus Replicated in Human Ovary Cancer Samples and Inhibited Growth of Disseminated Solid Tumors in Mice

    Science.gov (United States)

    Lopez, M Veronica; Rivera, Angel A; Viale, Diego L; Benedetti, Lorena; Cuneo, Nicasio; Kimball, Kristopher J; Wang, Minghui; Douglas, Joanne T; Zhu, Zeng B; Bravo, Alicia I; Gidekel, Manuel; Alvarez, Ronald D; Curiel, David T; Podhajcer, Osvaldo L

    2012-01-01

    Targeting the tumor stroma in addition to the malignant cell compartment is of paramount importance to achieve complete tumor regression. In this work, we modified a previously designed tumor stroma-targeted conditionally replicative adenovirus (CRAd) based on the SPARC promoter by introducing a mutated E1A unable to bind pRB and pseudotyped with a chimeric Ad5/3 fiber (Ad F512v1), and assessed its replication/lytic capacity in ovary cancer in vitro and in vivo. AdF512v1 was able to replicate in fresh samples obtained from patients: (i) with primary human ovary cancer; (ii) that underwent neoadjuvant treatment; (iii) with metastatic disease. In addition, we show that four intraperitoneal (i.p.) injections of 5 × 1010 v.p. eliminated 50% of xenografted human ovary tumors disseminated in nude mice. Moreover, AdF512v1 replication in tumor models was enhanced 15–40-fold when the tumor contained a mix of malignant and SPARC-expressing stromal cells (fibroblasts and endothelial cells). Contrary to the wild-type virus, AdF512v1 was unable to replicate in normal human ovary samples while the wild-type virus can replicate. This study provides evidence on the lytic capacity of this CRAd and highlights the importance of targeting the stromal tissue in addition to the malignant cell compartment to achieve tumor regression. PMID:22948673

  13. A Replication and Extension of the PEERS Intervention: Examining Effects on Social Skills and Social Anxiety in Adolescents with Autism Spectrum Disorders

    Science.gov (United States)

    Schohl, Kirsten A.; Van Hecke, Amy V.; Carson, Audrey Meyer; Dolan, Bridget; Karst, Jeffrey; Stevens, Sheryl

    2014-01-01

    This study aimed to evaluate the Program for the Education and Enrichment of Relational Skills (PEERS: Laugeson et al. in "J Autism Dev Disord" 39(4):596-606, 2009). PEERS focuses on improving friendship quality and social skills among adolescents with higher-functioning ASD. 58 participants aged 11-16 years-old were randomly assigned to…

  14. A neuropeptide Y variant (rs16139 associated with major depressive disorder in replicate samples from Chinese Han population.

    Directory of Open Access Journals (Sweden)

    Yongjun Wang

    Full Text Available OBJECTIVE: This study aimed to investigate the single nucleotide polymorphisms (SNPs of neuropeptide Y (NPY and major depressive disorder (MDD in Chinese Han population. DESIGN: Prospective and randomized studies were carried out. PATIENTS: A total of 700 patients (324 male and 376 female; mean age = 40±14.9 years with depression who met the diagnostic criteria of Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV and 673 healthy controls (313 male and 360 female; mean age = 41.9±17.2 years were used to investigate the relationship between SNPs of NPY and the pathogenesis of MDD. A total of 417 patients (195 male and 202 female; mean age = 36±14.2 years diagnosed with MDD and 314 healthy controls (153 male and 161 female; mean age = 37.9±14.2 years from Chinese Han population were used to verify the relationship between SNPs of NPY and the pathogenesis of MDD. INTERVENTION AND OUTCOME: Ligase detection reactions were performed to detect the SNP sites of NPY. A series of statistical methods was carried out to investigate the correlation between the NPY gene SNP and MDD. RESULTS: Statistical analysis showed a significant correlation between the SNP sites rs16139 in NPY and the morbidity of depression. Patients with MDD have a lower frequency of A-allele in rs16139 in replicate samples from Chinese Han population. However, the frequency varied between male and female patients. CONCLUSION: The gene polymorphism loci rs16139 was closely related to MDD in Chinese Han population.

  15. The emotion dysregulation inventory: Psychometric properties and item response theory calibration in an autism spectrum disorder sample.

    Science.gov (United States)

    Mazefsky, Carla A; Yu, Lan; White, Susan W; Siegel, Matthew; Pilkonis, Paul A

    2018-04-06

    Individuals with autism spectrum disorder (ASD) often present with prominent emotion dysregulation that requires treatment but can be difficult to measure. The Emotion Dysregulation Inventory (EDI) was created using methods developed by the Patient-Reported Outcomes Measurement Information System (PROMIS ® ) to capture observable indicators of poor emotion regulation. Caregivers of 1,755 youth with ASD completed 66 candidate EDI items, and the final 30 items were selected based on classical test theory and item response theory (IRT) analyses. The analyses identified two factors: (a) Reactivity, characterized by intense, rapidly escalating, sustained, and poorly regulated negative emotional reactions, and (b) Dysphoria, characterized by anhedonia, sadness, and nervousness. The final items did not show differential item functioning (DIF) based on gender, age, intellectual ability, or verbal ability. Because the final items were calibrated using IRT, even a small number of items offers high precision, minimizing respondent burden. IRT co-calibration of the EDI with related measures demonstrated its superiority in assessing the severity of emotion dysregulation with as few as seven items. Validity of the EDI was supported by expert review, its association with related constructs (e.g., anxiety and depression symptoms, aggression), higher scores in psychiatric inpatients with ASD compared to a community ASD sample, and demonstration of test-retest stability and sensitivity to change. In sum, the EDI provides an efficient and sensitive method to measure emotion dysregulation for clinical assessment, monitoring, and research in youth with ASD of any level of cognitive or verbal ability. Autism Res 2018. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. This paper describes a new measure of poor emotional control called the Emotion Dysregulation Inventory (EDI). Caregivers of 1,755 youth with ASD completed candidate items, and advanced statistical

  16. Promoting Peer Acceptance of Females with Higher-Functioning Autism in a Mainstream Education Setting: A Replication and Extension of the Effects of an Autism Anti-Stigma Program

    Science.gov (United States)

    Ranson, Natalia J.; Byrne, Mitchell K.

    2014-01-01

    This study evaluated the effects of an eight-session female higher-functioning autism anti-stigma program on the knowledge, attitudes and behavioural intentions of adolescent girls. Participants were seventh-, eighth- and ninth-grade students (N = 273) in a mainstream school. Two-eighth-grade classes were randomly allocated to the intervention…

  17. Autism phenotype versus registered diagnosis in Swedish children: prevalence trends over 10 years in general population samples.

    Science.gov (United States)

    Lundström, Sebastian; Reichenberg, Abraham; Anckarsäter, Henrik; Lichtenstein, Paul; Gillberg, Christopher

    2015-04-28

    To compare the annual prevalence of the autism symptom phenotype and of registered diagnoses for autism spectrum disorder during a 10 year period in children. Population based study. Child and Adolescent Twin Study and national patient register, Sweden. 19, 993 twins (190 with autism spectrum disorder) and all children (n=1,078,975; 4620 with autism spectrum disorder) born in Sweden over a 10 year period from 1993 to 2002. Annual prevalence of the autism symptom phenotype (that is, symptoms on which the diagnostic criteria are based) assessed by a validated parental telephone interview (the Autism-Tics, ADHD and other Comorbidities inventory), and annual prevalence of reported diagnoses of autism spectrum disorder in the national patient register. The annual prevalence of the autism symptom phenotype was stable during the 10 year period (P=0.87 for linear time trend). In contrast, there was a monotonic significant increase in prevalence of registered diagnoses of autism spectrum disorder in the national patient register (Pautism symptom phenotype has remained stable in children in Sweden while the official prevalence for registered, clinically diagnosed, autism spectrum disorder has increased substantially. This suggests that administrative changes, affecting the registered prevalence, rather than secular factors affecting the pathogenesis, are important for the increase in reported prevalence of autism spectrum disorder. © Lundström et al 2015.

  18. Parents’ Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder—Data from a Norwegian Sample

    Directory of Open Access Journals (Sweden)

    Jarle Johannessen

    2017-05-01

    Full Text Available Clinical genetic testing (CGT of children with autism spectrum disorder (ASD may have positive and negative effects. Knowledge about parents’ attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents’ attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child’s ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49–67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child’s future and cause family conflicts. Parents against CGT (9% were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children’s ASD diagnosis had a weak positive association with parent’s positive attitudes to CGT (p-values range from <0.001 to 0.975. Parents prefer that CGT is offered to those having a child with ASD (65%, when the child’s development deviates from normal (48%, or before pregnancy (36%. A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

  19. Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.

    Science.gov (United States)

    Johannessen, Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Høyland, Anne Lise; Strohmaier, Jana; Heiberg, Arvid; Rietschel, Marcella; Djurovic, Srdjan; Andreassen, Ole A

    2017-05-18

    Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child's ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49-67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child's future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children's ASD diagnosis had a weak positive association with parent's positive attitudes to CGT ( p -values range from <0.001 to 0.975). Parents prefer that CGT is offered to those having a child with ASD (65%), when the child's development deviates from normal (48%), or before pregnancy (36%). A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

  20. The Autism-Spectrum Quotient--Italian version: a cross-cultural confirmation of the broader autism phenotype.

    Science.gov (United States)

    Ruta, Liliana; Mazzone, Domenico; Mazzone, Luigi; Wheelwright, Sally; Baron-Cohen, Simon

    2012-04-01

    The Autism Spectrum Quotient (AQ) has been used to define the 'broader' (BAP), 'medium' (MAP) and 'narrow' autism phenotypes (NAP). We used a new Italian version of the AQ to test if difference on AQ scores and the distribution of BAP, MAP and NAP in autism parents (n = 245) versus control parents (n = 300) were replicated in a Sicilian sample. Parents of children with autism spectrum conditions scored higher than the control parents on total AQ, social skills and communication subscales, and exhibited higher rates of BAP, MAP and NAP. We conclude that the Italian AQ is a cross-culturally reliable measure of these different phenotypes, and can be used to identify a phenotypic gradient of severity of autistic traits in families. To understand the molecular basis of these phenotypes will require its use in genetic association studies.

  1. Depression symptoms in boys with autism spectrum disorder and comparison samples.

    Science.gov (United States)

    Gadow, Kenneth D; Guttmann-Steinmetz, Sarit; Rieffe, Carolien; Devincent, Carla J

    2012-07-01

    This study compares severity of specific depression symptoms in boys with autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), or chronic multiple tic disorder (CMTD) and typically developing boys (Controls). Children were evaluated with parent and teacher versions of the Child Symptom Inventory-4 (CSI-4) and a demographic questionnaire. Mothers' and teachers' ratings generally indicated the most severe symptoms in boys with ASD ± ADHD. Associations of depression with ASD severity and IQ varied considerably for specific symptoms of depression, ASD functional domain, and informant. Findings provide additional support for the differential influence of neurobehavioral syndromes on co-occurring symptom severity and illustrate how more fine-grained analyses of clinical phenotypes may contribute to a better understanding of etiology and current nosology.

  2. Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-Site Sample of Individuals with Autism Spectrum Disorder

    Science.gov (United States)

    Tillmann, J.; Ashwood, K.; Absoud, M.; Bölte, S.; Bonnet-Brilhault, F.; Buitelaar, J. K.; Calderoni, S.; Calvo, R.; Canal-Bedia, R.; Canitano, R.; De Bildt, A.; Gomot, M.; Hoekstra, P. J.; Kaale, A.; McConachie, H.; Murphy, D. G.; Narzisi, A.; Oosterling, I.; Pejovic-Milovancevic, M.; Persico, A. M.; Puig, O.; Roeyers, H.; Rommelse, N.; Sacco, R.; Scandurra, V.; Stanfield, A. C.; Zander, E.; Charman, T.

    2018-01-01

    Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and…

  3. Association of Autism Spectrum Disorder with Obsessive-Compulsive and Attention-Deficit/ Hyperactivity Traits and Response Inhibition in a Community Sample

    Science.gov (United States)

    van der Plas, Ellen; Dupuis, Annie; Arnold, Paul; Crosbie, Jennifer; Schachar, Russell

    2016-01-01

    We examined co-occurrence of autism spectrum disorder (ASD) with (traits of) attention-deficit/hyperactivity (ADHD), obsessive-compulsive (OCD) and inhibition deficits in a community sample (n = 16,676) and tested whether having a sibling with ASD manifested in increased features of ADHD, OCD or inhibition deficits. Individuals with ASD had…

  4. Brief Report: Accuracy and Response Time for the Recognition of Facial Emotions in a Large Sample of Children with Autism Spectrum Disorders

    Science.gov (United States)

    Fink, Elian; de Rosnay, Marc; Wierda, Marlies; Koot, Hans M.; Begeer, Sander

    2014-01-01

    The empirical literature has presented inconsistent evidence for deficits in the recognition of basic emotion expressions in children with autism spectrum disorders (ASD), which may be due to the focus on research with relatively small sample sizes. Additionally, it is proposed that although children with ASD may correctly identify emotion…

  5. Gender Ratio in a Clinical Population Sample, Age of Diagnosis and Duration of Assessment in Children and Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Rutherford, Marion; McKenzie, Karen; Johnson, Tess; Catchpole, Ciara; O'Hare, Anne; McClure, Iain; Forsyth, Kirsty; McCartney, Deborah; Murray, Aja

    2016-01-01

    This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish…

  6. A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia

    DEFF Research Database (Denmark)

    Ingason, Andrés; Giegling, Ina; Cichon, Sven

    2010-01-01

    The Abelson helper integration site 1 (AHI1) gene locus on chromosome 6q23 is among a group of candidate loci for schizophrenia susceptibility that were initially identified by linkage followed by linkage disequilibrium mapping, and subsequent replication of the association in an independent sample....... Here, we present results of a replication study of AHI1 locus markers, previously implicated in schizophrenia, in a large European sample (in total 3907 affected and 7429 controls). Furthermore, we perform a meta-analysis of the implicated markers in 4496 affected and 18,920 controls. Both...... as the neighbouring phosphodiesterase 7B (PDE7B)-may be considered candidates for involvement in the genetic aetiology of schizophrenia....

  7. Examination of Local Functional Homogeneity in Autism

    Directory of Open Access Journals (Sweden)

    Lili Jiang

    2015-01-01

    Full Text Available Increasing neuroimaging evidence suggests that autism patients exhibit abnormal brain structure and function. We used the Autism Brain Imaging Data Exchange (ABIDE sample to analyze locally focal (~8 mm functional connectivity of 223 autism patients and 285 normal controls from 15 international sites using a recently developed surface-based approach. We observed enhanced local connectivity in the middle frontal cortex, left precuneus, and right superior temporal sulcus, and reduced local connectivity in the right insular cortex. The local connectivity in the right middle frontal gyrus was positively correlated with the total score of the autism diagnostic observation schedule whereas the local connectivity within the right superior temporal sulcus was positively correlated with total subscores of both the communication and the stereotyped behaviors and restricted interests of the schedule. Finally, significant interactions between age and clinical diagnosis were detected in the left precuneus. These findings replicated previous observations that used a volume-based approach and suggested possible neuropathological impairments of local information processing in the frontal, temporal, parietal, and insular cortices. Novel site-variability analysis demonstrated high reproducibility of our findings across the 15 international sites. The age-disease interaction provides a potential target region for future studies to further elucidate the neurodevelopmental mechanisms of autism.

  8. Are we under-estimating the association between autism symptoms?: The importance of considering simultaneous selection when using samples of individuals who meet diagnostic criteria for an autism spectrum disorder.

    Science.gov (United States)

    Murray, Aja Louise; McKenzie, Karen; Kuenssberg, Renate; O'Donnell, Michael

    2014-11-01

    The magnitude of symptom inter-correlations in diagnosed individuals has contributed to the evidence that autism spectrum disorders (ASD) is a fractionable disorder. Such correlations may substantially under-estimate the population correlations among symptoms due to simultaneous selection on the areas of deficit required for diagnosis. Using statistical simulations of this selection mechanism, we provide estimates of the extent of this bias, given different levels of population correlation between symptoms. We then use real data to compare domain inter-correlations in the Autism Spectrum Quotient, in those with ASD versus a combined ASD and non-ASD sample. Results from both studies indicate that samples restricted to individuals with a diagnosis of ASD potentially substantially under-estimate the magnitude of association between features of ASD.

  9. Brief Report: The Autism Spectrum Quotient Has Convergent Validity with the Social Responsiveness Scale in a High-Functioning Sample

    Science.gov (United States)

    Armstrong, Kimberly; Iarocci, Grace

    2013-01-01

    The Autism Spectrum Quotient (AQ) is widely used to measure autism spectrum disorder (ASD) symptoms and screen for ASD. It is readily available free of charge online and is easily accessible to practitioners, researchers and individuals who suspect that they may have an ASD. Thus, the AQ is a potentially useful, widely accessible tool for ASD…

  10. The Experience of Social Participation in Everyday Contexts among Individuals with Autism Spectrum Disorders: An Experience Sampling Study

    Science.gov (United States)

    Chen, Yu-Wei; Bundy, Anita; Cordier, Reinie; Chien, Yi-Ling; Einfeld, Stewart

    2016-01-01

    This study explored the everyday life experiences of individuals with an autism spectrum disorder (ASD). Fourteen Australians and 16 Taiwanese (aged 16-45 years) with Asperger syndrome/high functioning autism recorded what they were doing, level of interest/involvement, emotional reactions and preference for being alone 7 times/day for 7 days.…

  11. Autism Society

    Science.gov (United States)

    ... Español Improving the lives of all affected by autism. The Autism Society is the nation's leading grassroots ... more Improving the lives of all affected by autism. The Autism Society is the nation's leading grassroots ...

  12. Detection of foot-and-mouth disease virus RNA in pharyngeal epithelium biopsy samples obtained from infected cattle: Investigation of possible sites of virus replication and persistence

    DEFF Research Database (Denmark)

    Stenfeldt, Anna Carolina; Belsham, Graham

    2012-01-01

    measurements of the levels of FMDV RNA in the DSP as well as mandibular and retropharyngeal lymph nodes beyond 28 days after infection. Results indicated only low levels of FMDV RNA present in samples of pharyngeal epithelia during both early and persistent phases of infection with significantly higher levels...... of virus detected in pharyngeal excretions. It is concluded that the targeted area for sampling within the DSP does not harbour significant levels of virus replication during acute or persistent FMDV infection in cattle. Furthermore, the DSP and the mandibular and retropharyngeal lymph nodes cannot...

  13. Distributional Replication

    OpenAIRE

    Beare, Brendan K.

    2009-01-01

    Suppose that X and Y are random variables. We define a replicating function to be a function f such that f(X) and Y have the same distribution. In general, the set of replicating functions for a given pair of random variables may be infinite. Suppose we have some objective function, or cost function, defined over the set of replicating functions, and we seek to estimate the replicating function with the lowest cost. We develop an approach to estimating the cheapest replicating function that i...

  14. Blasthole sampling (replicate and variographic experiments) in LKAB open pit iron ore mines – fit-for-purpose representativity?

    DEFF Research Database (Denmark)

    Engström, Karin; Esbensen, Kim Harry

    2017-01-01

    The conclusion from the debate over the last decade in the mining sector is that, for grade control, reverse circulation (RC) drill sampling gives more reliable results due to less sampling problems than blasthole samples. However, by conducting the latter with well-controlled procedures there st...

  15. Effects of perceptual load and socially meaningful stimuli on crossmodal selective attention in Autism Spectrum Disorder and neurotypical samples.

    Science.gov (United States)

    Tyndall, Ian; Ragless, Liam; O'Hora, Denis

    2018-04-01

    The present study examined whether increasing visual perceptual load differentially affected both Socially Meaningful and Non-socially Meaningful auditory stimulus awareness in neurotypical (NT, n = 59) adults and Autism Spectrum Disorder (ASD, n = 57) adults. On a target trial, an unexpected critical auditory stimulus (CAS), either a Non-socially Meaningful ('beep' sound) or Socially Meaningful ('hi') stimulus, was played concurrently with the presentation of the visual task. Under conditions of low visual perceptual load both NT and ASD samples reliably noticed the CAS at similar rates (77-81%), whether the CAS was Socially Meaningful or Non-socially Meaningful. However, during high visual perceptual load NT and ASD participants reliably noticed the meaningful CAS (NT = 71%, ASD = 67%), but NT participants were unlikely to notice the Non-meaningful CAS (20%), whereas ASD participants reliably noticed it (80%), suggesting an inability to engage selective attention to ignore non-salient irrelevant distractor stimuli in ASD. Copyright © 2018 Elsevier Inc. All rights reserved.

  16. Protocadherin α (PCDHA) as a novel susceptibility gene for autism

    Science.gov (United States)

    Anitha, Ayyappan; Thanseem, Ismail; Nakamura, Kazuhiko; Yamada, Kazuo; Iwayama, Yoshimi; Toyota, Tomoko; Iwata, Yasuhide; Suzuki, Katsuaki; Sugiyama, Toshiro; Tsujii, Masatsugu; Yoshikawa, Takeo; Mori, Norio

    2013-01-01

    Background Synaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin α gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism. Methods We examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange. Results Five SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex families, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview–Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). Limitations Our results should be replicated in an independent population and/or in samples of different racial backgrounds. Conclusion Our study provides strong genetic evidence of PCDHA as a potential candidate gene for autism. PMID:23031252

  17. Replication Catastrophe

    DEFF Research Database (Denmark)

    Toledo, Luis; Neelsen, Kai John; Lukas, Jiri

    2017-01-01

    Proliferating cells rely on the so-called DNA replication checkpoint to ensure orderly completion of genome duplication, and its malfunction may lead to catastrophic genome disruption, including unscheduled firing of replication origins, stalling and collapse of replication forks, massive DNA...... breakage, and, ultimately, cell death. Despite many years of intensive research into the molecular underpinnings of the eukaryotic replication checkpoint, the mechanisms underlying the dismal consequences of its failure remain enigmatic. A recent development offers a unifying model in which the replication...... checkpoint guards against global exhaustion of rate-limiting replication regulators. Here we discuss how such a mechanism can prevent catastrophic genome disruption and suggest how to harness this knowledge to advance therapeutic strategies to eliminate cancer cells that inherently proliferate under...

  18. Replication of a Modified Factor Structure for the Eating Disorder Examination-Questionnaire: Extension to Clinical Eating Disorder and Non-clinical Samples in Portugal.

    Science.gov (United States)

    Machado, Paulo P P; Grilo, Carlos M; Crosby, Ross D

    2018-01-01

    Psychometric investigations of the Eating Disorder Examination-Questionnaire (EDE-Q) have generally not supported the original scale structure. The present study tested an alternative brief factor structure in two large Portuguese samples: (1) a non-clinical sample of N = 4117 female students and (2) a treatment-seeking sample of N = 609 patients diagnosed with eating disorders. Confirmatory factor analysis revealed a poor fit for the original EDE-Q structure in both the non-clinical and the clinical samples but revealed a good fit for the alternative 7-item 3-factor structure (dietary restraint, shape/weight overvaluation and body dissatisfaction). Factor loadings were invariant across samples and across the different specific eating disorder diagnoses in the clinical sample. These confirmatory factor analysis findings, which replicate findings from studies with diverse predominately overweight/obese samples, supported a modified 7-item, 3-factor structure for the EDE-Q. The reliable findings across different non-clinical and clinical eating disorder groups provide confidence regarding the potential utility of this brief version. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association.

  19. Mapping the structural organization of the brain in conduct disorder: replication of findings in two independent samples.

    Science.gov (United States)

    Fairchild, Graeme; Toschi, Nicola; Sully, Kate; Sonuga-Barke, Edmund J S; Hagan, Cindy C; Diciotti, Stefano; Goodyer, Ian M; Calder, Andrew J; Passamonti, Luca

    2016-09-01

    Neuroimaging methods that allow researchers to investigate structural covariance between brain regions are increasingly being used to study psychiatric disorders. Structural covariance analyses are particularly well suited for studying disorders with putative neurodevelopmental origins as they appear sensitive to changes in the synchronized maturation of different brain regions. We assessed interregional correlations in cortical thickness as a measure of structural covariance, and applied this method to investigate the coordinated development of different brain regions in conduct disorder (CD). We also assessed whether structural covariance measures could differentiate between the childhood-onset (CO-CD) and adolescence-onset (AO-CD) subtypes of CD, which may differ in terms of etiology and adult outcomes. We examined interregional correlations in cortical thickness in male youths with CO-CD or AO-CD relative to healthy controls (HCs) in two independent datasets. The age range in the Cambridge sample was 16-21 years (mean: 18.0), whereas the age range of the Southampton sample was 13-18 years (mean: 16.7). We used FreeSurfer to perform segmentations and applied structural covariance methods to the resulting parcellations. In both samples, CO-CD participants displayed a strikingly higher number of significant cross-cortical correlations compared to HC or AO-CD participants, whereas AO-CD participants presented fewer significant correlations than HCs. Group differences in the strength of the interregional correlations were observed in both samples, and each set of results remained significant when controlling for IQ and comorbid attention-deficit/hyperactivity disorder symptoms. This study provides new evidence for quantitative differences in structural brain organization between the CO-CD and AO-CD subtypes, and supports the hypothesis that both subtypes of CD have neurodevelopmental origins. © 2016 The Authors. Journal of Child Psychology and Psychiatry

  20. Database Replication

    CERN Document Server

    Kemme, Bettina

    2010-01-01

    Database replication is widely used for fault-tolerance, scalability and performance. The failure of one database replica does not stop the system from working as available replicas can take over the tasks of the failed replica. Scalability can be achieved by distributing the load across all replicas, and adding new replicas should the load increase. Finally, database replication can provide fast local access, even if clients are geographically distributed clients, if data copies are located close to clients. Despite its advantages, replication is not a straightforward technique to apply, and

  1. Autism: Diagnosis

    Science.gov (United States)

    ... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Donate Home What is Autism? What is Autism? ... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Diagnosis Home / What is Autism? / Diagnosis Expand Medical ...

  2. Psychometric support of the school climate measure in a large, diverse sample of adolescents: a replication and extension.

    Science.gov (United States)

    Zullig, Keith J; Collins, Rani; Ghani, Nadia; Patton, Jon M; Scott Huebner, E; Ajamie, Jean

    2014-02-01

    The School Climate Measure (SCM) was developed and validated in 2010 in response to a dearth of psychometrically sound school climate instruments. This study sought to further validate the SCM on a large, diverse sample of Arizona public school adolescents (N = 20,953). Four SCM domains (positive student-teacher relationships, academic support, order and discipline, and physical environment) were available for the analysis. Confirmatory factor analysis and structural equation modeling were established to construct validity, and criterion-related validity was assessed via selected Youth Risk Behavior Survey (YRBS) school safety items and self-reported grade (GPA) point average. Analyses confirmed the 4 SCM school climate domains explained approximately 63% of the variance (factor loading range .45-.92). Structural equation models fit the data well χ(2) = 14,325 (df = 293, p < .001), comparative fit index (CFI) = .951, Tuker-Lewis index (TLI) = .952, root mean square error of approximation (RMSEA) = .05). The goodness-of-fit index was .940. Coefficient alphas ranged from .82 to .93. Analyses of variance with post hoc comparisons suggested the SCM domains related in hypothesized directions with the school safety items and GPA. Additional evidence supports the validity and reliability of the SCM. Measures, such as the SCM, can facilitate data-driven decisions and may be incorporated into evidenced-based processes designed to improve student outcomes. © 2014, American School Health Association.

  3. Examination of Sex Differences in a Large Sample of Young Children with Autism Spectrum Disorder and Typical Development

    Science.gov (United States)

    Reinhardt, Vanessa P.; Wetherby, Amy M.; Schatschneider, Christopher; Lord, Catherine

    2015-01-01

    Despite consistent and substantive research documenting a large male to female ratio in Autism Spectrum Disorder (ASD), only a modest body of research exists examining sex differences in characteristics. This study examined sex differences in developmental functioning and early social communication in children with ASD as compared to children with…

  4. A comparison of DSM-IV pervasive developmental disorder and DSM-5 autism spectrum disorder prevalence in an epidemiologic sample.

    Science.gov (United States)

    Kim, Young Shin; Fombonne, Eric; Koh, Yun-Joo; Kim, Soo-Jeong; Cheon, Keun-Ah; Leventhal, Bennett L

    2014-05-01

    Changes in autism diagnostic criteria found in DSM-5 may affect autism spectrum disorder (ASD) prevalence, research findings, diagnostic processes, and eligibility for clinical and other services. Using our published, total-population Korean prevalence data, we compute DSM-5 ASD and social communication disorder (SCD) prevalence and compare them with DSM-IV pervasive developmental disorder (PDD) prevalence estimates. We also describe individuals previously diagnosed with DSM-IV PDD when diagnoses change with DSM-5 criteria. The target population was all children from 7 to 12 years of age in a South Korean community (N = 55,266), those in regular and special education schools, and a disability registry. We used the Autism Spectrum Screening Questionnaire for systematic, multi-informant screening. Parents of screen-positive children were offered comprehensive assessments using standardized diagnostic procedures, including the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Best-estimate clinical diagnoses were made using DSM-IV PDD and DSM-5 ASD and SCD criteria. DSM-5 ASD estimated prevalence was 2.20% (95% confidence interval = 1.77-3.64). Combined DSM-5 ASD and SCD prevalence was virtually the same as DSM-IV PDD prevalence (2.64%). Most children with autistic disorder (99%), Asperger disorder (92%), and PDD-NOS (63%) met DSM-5 ASD criteria, whereas 1%, 8%, and 32%, respectively, met SCD criteria. All remaining children (2%) had other psychopathology, principally attention-deficit/hyperactivity disorder and anxiety disorder. Our findings suggest that most individuals with a prior DSM-IV PDD meet DSM-5 diagnostic criteria for ASD and SCD. PDD, ASD or SCD; extant diagnostic criteria identify a large, clinically meaningful group of individuals and families who require evidence-based services. Copyright © 2014 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  5. The Autism Diagnostic Observation Schedule, Module 4: Application of the Revised Algorithms in an Independent, Well-Defined, Dutch Sample (N = 93)

    Science.gov (United States)

    de Bildt, Annelies; Sytema, Sjoerd; Meffert, Harma; Bastiaansen, Jojanneke A. C. J.

    2016-01-01

    This study examined the discriminative ability of the revised Autism Diagnostic Observation Schedule module 4 algorithm (Hus and Lord in "J Autism Dev Disord" 44(8):1996-2012, 2014) in 93 Dutch males with Autism Spectrum Disorder (ASD), schizophrenia, psychopathy or controls. Discriminative ability of the revised algorithm ASD cut-off…

  6. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

    Science.gov (United States)

    Curran, Sarah; Bolton, Patrick; Rozsnyai, Kinga; Chiocchetti, Andreas; Klauck, Sabine M; Duketis, Eftichia; Poustka, Fritz; Schlitt, Sabine; Freitag, Christine M; Lee, Irene; Muglia, Pierandrea; Poot, Martin; Staal, Wouter; de Jonge, Maretha V; Ophoff, Roel A; Lewis, Cathryn; Skuse, David; Mandy, Will; Vassos, Evangelos; Fossdal, Ragnheidur; Magnusson, Páll; Hreidarsson, Stefan; Saemundsen, Evald; Stefansson, Hreinn; Stefansson, Kari; Collier, David

    2011-09-01

    The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case-control design of 1,170 cases with autism spectrum disorder (ASD) (874 of which fulfilled narrow criteria for Autism (A)) from five centers within Europe (UK, Germany, the Netherlands, Italy, and Iceland), and 35,307 controls. The combined sample size gave us a non-centrality parameter (NCP) of 11.9, with 93% power to detect allelic association of rs4141463 at an alpha of 0.05 with odds ratio of 0.84 (the best odds ratio estimate of the AGP Consortium data), and for the narrow diagnosis of autism, an NCP of 8.9 and power of 85%. Our case-control data were analyzed for association, stratified by each center, and the summary statistics were combined using the meta-analysis program, GWAMA. This resulted in an odds ratio (OR) of 1.03 (95% CI 0.944-1.133), with a P-value of 0.5 for ASD and OR of 0.99 (95% CI 0.88-1.11) with P-value = 0.85 for the Autism (A) sub-group. Therefore, this study does not provide support for the reported association between rs4141463 and autism. Copyright © 2011 Wiley-Liss, Inc.

  7. Biological sex affects the neurobiology of autism

    Science.gov (United States)

    Lombardo, Michael V.; Suckling, John; Ruigrok, Amber N. V.; Chakrabarti, Bhismadev; Ecker, Christine; Deoni, Sean C. L.; Craig, Michael C.; Murphy, Declan G. M.; Bullmore, Edward T.; Baron-Cohen, Simon

    2013-01-01

    In autism, heterogeneity is the rule rather than the exception. One obvious source of heterogeneity is biological sex. Since autism was first recognized, males with autism have disproportionately skewed research. Females with autism have thus been relatively overlooked, and have generally been assumed to have the same underlying neurobiology as males with autism. Growing evidence, however, suggests that this is an oversimplification that risks obscuring the biological base of autism. This study seeks to answer two questions about how autism is modulated by biological sex at the level of the brain: (i) is the neuroanatomy of autism different in males and females? and (ii) does the neuroanatomy of autism fit predictions from the ‘extreme male brain’ theory of autism, in males and/or in females? Neuroanatomical features derived from voxel-based morphometry were compared in a sample of equal-sized high-functioning male and female adults with and without autism (n = 120, n = 30/group). The first question was investigated using a 2 × 2 factorial design, and by spatial overlap analyses of the neuroanatomy of autism in males and females. The second question was tested through spatial overlap analyses of specific patterns predicted by the extreme male brain theory. We found that the neuroanatomy of autism differed between adult males and females, evidenced by minimal spatial overlap (not different from that occurred under random condition) in both grey and white matter, and substantially large white matter regions showing significant sex × diagnosis interactions in the 2 × 2 factorial design. These suggest that autism manifests differently by biological sex. Furthermore, atypical brain areas in females with autism substantially and non-randomly (P males with autism. How differences in neuroanatomy relate to the similarities in cognition between males and females with autism remains to be understood. Future research should stratify by biological sex to reduce

  8. Autism Assets

    Science.gov (United States)

    Sarahan, Neal; Copas, Randy

    2014-01-01

    The Center for Disease Control estimates that 1 in 88 children have been identified with autism (CDC, 2012). Autism is often associated with other psychiatric, developmental, neurological, and genetic diagnoses. However, the majority (62%) of children identified on the autism spectrum do not have intellectual disability. Instead, they are hurting.…

  9. Inclusive education from the point of view of the mothers of students with Autism Spectrum Disorder in a Chilean sample

    Directory of Open Access Journals (Sweden)

    Marcela Villegas Otárola

    2014-12-01

    Full Text Available The purpose of the study is to show the perspective of Chilean mothers on the educational inclusion of children who have Autism Spectrum Disorder enrolled in primary schools. Evidence was collected by listening to the voices of families, which can serve as a starting point to reflect on how to move towards a more inclusive education and how to help improve the supports that are being provided to students with disabilities. The study was based on a qualitative research paradigm, using unstructured interviews to access the information. It counted with the participation of eight Chilean mothers from the Region of Valparaíso. The results show that the value of schooling is closely related to the emotional well-being, which is given greater significance than the academic results. The importance of supports adapted to the needs of the family system is emphasized.

  10. Standardized screening facilitates timely diagnosis of autism spectrum disorders in a diverse sample of low-risk toddlers.

    Science.gov (United States)

    Herlihy, Lauren E; Brooks, Bianca; Dumont-Mathieu, Thyde; Barton, Marianne L; Fein, Deborah; Chen, Chi-Ming; Robins, Diana L

    2014-01-01

    Routine, standardized screening for autism spectrum disorder (ASD) has been hypothesized to reduce known racial/ethnic and socioeconomic status (SES) disparities in age of first diagnosis. This study explored demographic differences in toddlers' age and performance on developmental measures at the time of ASD assessment. Toddlers (16-39 months at evaluation) who screened at-risk for developmental delay on the Modified Checklist for Autism in Toddlers (M-CHAT) or M-CHAT-Revised (M-CHAT-R) and follow-up interview participated in a diagnostic assessment. Of these, 44.7% were racial/ethnic minorities and 53.5% were non-minorities. Child race/ethnicity, years of maternal education (MEd), and household yearly income (YI) were parent-reported. Small but significant correlations were observed between MEd or YI and evaluation age and adaptive communication, socialization, and motor scores. Controlling for MEd and YI, minority racial/ethnic group did not predict child's performance on most measures and did not predict likelihood of ASD diagnosis. Differences in age at evaluation and receptive language skills were small effects. Significant but small effects emerged for SES and minority status on toddlers' age at evaluation and parent-reported adaptive skills, but these did not predict ASD diagnosis. The small magnitude of these effects suggests that routine, standardized screening for ASD in toddlers and timely access to diagnostic evaluation can reduce disparities in age at diagnosis and possibly reduce racial/ethnic disparities in access to services for ASD and other developmental delays.

  11. How autism became autism

    Science.gov (United States)

    Evans, Bonnie

    2013-01-01

    This article argues that the meaning of the word ‘autism’ experienced a radical shift in the early 1960s in Britain which was contemporaneous with a growth in epidemiological and statistical studies in child psychiatry. The first part of the article explores how ‘autism’ was used as a category to describe hallucinations and unconscious fantasy life in infants through the work of significant child psychologists and psychoanalysts such as Jean Piaget, Lauretta Bender, Leo Kanner and Elwyn James Anthony. Theories of autism were then associated both with schizophrenia in adults and with psychoanalytic styles of reasoning. The closure of institutions for ‘mental defectives’ and the growth in speech therapy services in the 1960s and 1970s encouraged new models for understanding autism in infants and children. The second half of the article explores how researchers such as Victor Lotter and Michael Rutter used the category of autism to reconceptualize psychological development in infants and children via epidemiological studies. These historical changes have influenced the form and function of later research into autism and related conditions. PMID:24014081

  12. Detection of human parvovirus 4 viremia in the follow-up blood samples from seropositive individuals suggests the existence of persistent viral replication or reactivation of latent viral infection.

    Science.gov (United States)

    Chen, Mao-Yuan; Hung, Chien-Ching; Lee, Kuang-Lun

    2015-06-19

    The transmission routes for human parvovirus 4 (PARV4) infections in areas with high seroprevalence are not known. In the work described here, persistent PARV4 viral replication was investigated by conducting a longitudinal study. Ten healthcare workers each provided a blood sample at the beginning of the study (first sample) and 12 months later (second sample). The paired samples were tested for PARV4-positivity by immunoblotting analysis and nested polymerase chain reactions. IgG antibodies against PARV4 were detected in six participants, three of whom also had IgM antibodies against PARV4. The immunoblotting results did not vary over time. PARV4 DNA was detected in the first blood sample from one participant who had IgG antibodies against PARV4 and in the second blood samples from 2 participants who had IgG and IgM antibodies against PARV4. Detection of PARV4 DNA in the second blood samples from two seropositive participants suggests the existence of persistent PARV4 replication or reactivation of inactive virus in the tissues. The finding of persistent or intermittent PARV4 replication in individuals with past infections provides an important clue toward unraveling the non-parenteral transmission routes of PARV4 infection in areas where the virus is endemic.

  13. Network Approach to Understanding Emotion Dynamics in Relation to Childhood Trauma and Genetic Liability to Psychopathology: Replication of a Prospective Experience Sampling Analysis

    Directory of Open Access Journals (Sweden)

    Laila Hasmi

    2017-11-01

    Full Text Available Background: The network analysis of intensive time series data collected using the Experience Sampling Method (ESM may provide vital information in gaining insight into the link between emotion regulation and vulnerability to psychopathology. The aim of this study was to apply the network approach to investigate whether genetic liability (GL to psychopathology and childhood trauma (CT are associated with the network structure of the emotions “cheerful,” “insecure,” “relaxed,” “anxious,” “irritated,” and “down”—collected using the ESM method.Methods: Using data from a population-based sample of twin pairs and siblings (704 individuals, we examined whether momentary emotion network structures differed across strata of CT and GL. GL was determined empirically using the level of psychopathology in monozygotic and dizygotic co-twins. Network models were generated using multilevel time-lagged regression analysis and were compared across three strata (low, medium, and high of CT and GL, respectively. Permutations were utilized to calculate p values and compare regressions coefficients, density, and centrality indices. Regression coefficients were presented as connections, while variables represented the nodes in the network.Results: In comparison to the low GL stratum, the high GL stratum had significantly denser overall (p = 0.018 and negative affect network density (p < 0.001. The medium GL stratum also showed a directionally similar (in-between high and low GL strata but statistically inconclusive association with network density. In contrast to GL, the results of the CT analysis were less conclusive, with increased positive affect density (p = 0.021 and overall density (p = 0.042 in the high CT stratum compared to the medium CT stratum but not to the low CT stratum. The individual node comparisons across strata of GL and CT yielded only very few significant results, after adjusting for multiple testing.Conclusions: The

  14. Variations of the Functional Brain Network Efficiency in a Young Clinical Sample within the Autism Spectrum: A fNIRS Investigation

    OpenAIRE

    Li, Yanwei; Yu, Dongchuan

    2018-01-01

    Autism is a neurodevelopmental disorder with dimensional behavioral symptoms and various damages in the structural and functional brain. Previous neuroimaging studies focused on exploring the differences of brain development between individuals with and without autism spectrum disorders (ASD). However, few of them have attempted to investigate the individual differences of the brain features among subjects within the Autism spectrum. Our main goal was to explore the individual differences of ...

  15. Lack of association between measles virus vaccine and autism with enteropathy: a case-control study.

    Directory of Open Access Journals (Sweden)

    Mady Hornig

    2008-09-01

    Full Text Available The presence of measles virus (MV RNA in bowel tissue from children with autism spectrum disorders (ASD and gastrointestinal (GI disturbances was reported in 1998. Subsequent investigations found no associations between MV exposure and ASD but did not test for the presence of MV RNA in bowel or focus on children with ASD and GI disturbances. Failure to replicate the original study design may contribute to continued public concern with respect to the safety of the measles, mumps, and rubella (MMR vaccine.The objective of this case-control study was to determine whether children with GI disturbances and autism are more likely than children with GI disturbances alone to have MV RNA and/or inflammation in bowel tissues and if autism and/or GI episode onset relate temporally to receipt of MMR. The sample was an age-matched group of US children undergoing clinically-indicated ileocolonoscopy. Ileal and cecal tissues from 25 children with autism and GI disturbances and 13 children with GI disturbances alone (controls were evaluated by real-time reverse transcription (RT-PCR for presence of MV RNA in three laboratories blinded to diagnosis, including one wherein the original findings suggesting a link between MV and ASD were reported. The temporal order of onset of GI episodes and autism relative to timing of MMR administration was examined. We found no differences between case and control groups in the presence of MV RNA in ileum and cecum. Results were consistent across the three laboratory sites. GI symptom and autism onset were unrelated to MMR timing. Eighty-eight percent of ASD cases had behavioral regression.This study provides strong evidence against association of autism with persistent MV RNA in the GI tract or MMR exposure. Autism with GI disturbances is associated with elevated rates of regression in language or other skills and may represent an endophenotype distinct from other ASD.

  16. Levels of heavy metals and essential minerals in hair samples of children with autism in Oman: a case-control study.

    Science.gov (United States)

    Al-Farsi, Yahya M; Waly, Mostafa I; Al-Sharbati, Marwan M; Al-Shafaee, Mohammed A; Al-Farsi, Omar A; Al-Khaduri, Maha M; Gupta, Ishita; Ouhtit, Allal; Al-Adawi, Samir; Al-Said, Mona F; Deth, Richard C

    2013-02-01

    Toxic levels of heavy metals and low levels of essential minerals have been suggested to play a critical role in the pathogenesis of autism spectrum disorders (ASD). This study documents the levels of heavy metals and essential minerals in hair samples of children with ASD in Muscat, the urbanized capital of Oman, Muscat. The study included 27 children with ASD and 27 matched non-ASD controls. Parental interviews were held and dietary intake questionnaires completed in conjunction with the collection of hair samples. Analysis of heavy metals and essential minerals was carried out by inductively coupled plasma mass spectrometry. Chi-square analysis and non-parametric Fisher's exact tests were used to assess statistical significance. Children with ASD had significantly higher levels of all 11 analyzed heavy metals in their hair samples (P minerals sulfur, sodium, magnesium, potassium, zinc, and iron, but lower levels of calcium and copper in their hair samples. This study corroborates data from previous studies in different parts of the world indicating the presence of elevated levels of heavy metals and selective depletion of essential minerals in the hair of children with ASD.

  17. Assessment of suicidality in children and adolescents with diagnosis of high functioning autism spectrum disorder in a Turkish clinical sample

    Directory of Open Access Journals (Sweden)

    Karakoç Demirkaya S

    2016-11-01

    Full Text Available Sevcan Karakoç Demirkaya,1 Mustafa Deniz Tutkunkardaş,2 Nahit Motavalli Mukaddes3 1Department of Child Psychiatry, Adnan Menderes University School of Medicine, Aydin, 2Department of Child Psychiatry, Istanbul School of Medicine, Istanbul University, Istanbul, 3Istanbul Institute of Child and Adolescent Psychiatry, Istanbul, Turkey Objectives: Considering that suicide is one of the most common reasons of adolescent death worldwide, there is a lack of clinical awareness on suicidal behaviors of children and adolescents with autism spectrum disorder (ASD. The present study aims to assess the rate of suicidality (suicidal ideation, behaviors and attempts and associated risk factors for suicidality in high functioning ASD.Methods: Medical records of 55 adolescents (six girls, 49 boys, aged between 7–20 years, with diagnosis of ASD were reviewed. The participants were all able to speak fluently and had no significant limitations in intellectual functioning. Clinical assessment of participants was carried out on the basis of Diagnostic and Statistical Manual of Mental Disorders 4th Edition, Text Revision criteria and Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Eskin’s Suicide Screening Questionnaire and sociodemographic data form including detailed history of suicidal behaviors were used. The study group was also divided into suicidal and non-suicidal groups for the purpose of comparing the results.Results: The rate of suicidal behaviors was 29% and suicide attempt was 12.7%. Types of suicidality were behaviors (43.7%, thoughts (37.5%, and verbal declarations (18.7%. A number of bizarre acts were recorded. Rates of comorbid psychiatric disorders such as mood disorders, anxiety disorders and disruptive behaviors were 23.6%, 43.6% and 65.4% respectively. Groups with the psychotic features, positive family history for suicidal behaviors and completed suicide showed more suicidality than

  18. Brain region-specific altered expression and association of mitochondria-related genes in autism.

    Science.gov (United States)

    Anitha, Ayyappan; Nakamura, Kazuhiko; Thanseem, Ismail; Yamada, Kazuo; Iwayama, Yoshimi; Toyota, Tomoko; Matsuzaki, Hideo; Miyachi, Taishi; Yamada, Satoru; Tsujii, Masatsugu; Tsuchiya, Kenji J; Matsumoto, Kaori; Iwata, Yasuhide; Suzuki, Katsuaki; Ichikawa, Hironobu; Sugiyama, Toshiro; Yoshikawa, Takeo; Mori, Norio

    2012-11-01

    Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions. For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct (∆∆Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism. Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC

  19. Brain region-specific altered expression and association of mitochondria-related genes in autism

    Directory of Open Access Journals (Sweden)

    Anitha Ayyappan

    2012-11-01

    Full Text Available Abstract Background Mitochondrial dysfunction (MtD has been observed in approximately five percent of children with autism spectrum disorders (ASD. MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA. Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions. Methods For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG, motor cortex (MC and thalamus (THL from autism patients (n=8 and controls (n=10 were obtained from the Autism Tissue Program (Princeton, NJ, USA. Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct (∆∆Ct method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism. Results Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2, neurofilament, light polypeptide (NEFL and solute carrier family 25, member 27 (SLC25A27 showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066 and SLC25A27 (P = 0.046; Z-score 1.990 showed genetic association with autism in Caucasian and Japanese samples, respectively. The

  20. Therapeutic Horseback Riding Crossover Effects of Attachment Behaviors with Family Pets in a Sample of Children with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Jessie D. Petty

    2017-03-01

    Full Text Available The unique needs of individuals with autism spectrum disorder (ASD have implications for animal welfare. This nested pilot study examined the effects of a randomized trial of 10-week therapeutic horseback riding (THR intervention versus a no-horse barn activity (BA control group on children’s behaviors with family pets. Sixty-seven (THR n = 31; BA n = 36 participants with ASD (ages 6–16 years with one or more family pet, were enrolled from a larger trial (n = 116 following their randomization to intervention groups, stratified by nonverbal intellectual ability. A consistent caregiver completed questionnaires about participants’ interactions with their household pets pre- and post-intervention. Caregivers of THR group participants reported significant improvements in participants’ caring actions with the family pet compared with the BA group (p = 0.013; effect size = 0.74. Engaging with horses during a standard THR intervention protocol may generalize to improving caring actions toward family pets in children and adolescents with ASD.

  1. The link between some alleles on human leukocyte antigen system and autism in children.

    Science.gov (United States)

    Mostafa, Gehan A; Shehab, Abeer A; Al-Ayadhi, Laila Y

    2013-02-15

    The reason behind the initiation of autoimmunity to brain in some patients with autism is not well understood. There is an association between some autoimmune disorders and specific alleles of human leukocyte antigen (HLA) system. Thus, we examined the frequency of some HLA-DRB1 alleles in 100 autistic children and 100 healthy matched-children by differential hybridization with sequence-specific oligonucleotide probes. The risk of association between acquisition or absence of these alleles and autism and also a history of autoimmune diseases in autistic relatives was studied. Autistic children had significantly higher frequency of HLA-DRB1*11 allele than controls (P<0.001). In contrast, autistic children had significantly lower frequency of HLA-DRB1*03 allele than controls (P<0.001). Acquisition of HLA-DRB1*011 and absence of HLA-DRB1*3 had significant risk for association with autism (odds ratio: 3.21 and 0.17, respectively; 95% CI: 1.65-6.31 and 0.06-0.45, respectively). HLA-DRB1*11 had a significant risk for association with a family history of autoimmunity in autistic children (odds ratio: 5.67; 95% CI: 2.07-16.3). In conclusions, the link of some HLA alleles to autism and to family history of autoimmunity indicates the possible contributing role of these alleles to autoimmunity in some autistic children. Despite a relatively small sample size, we are the first to report a probable protective association of HLA-DRB1*03 allele with autism. It warrants a replication study of a larger sample to validate the HLA-DRB1 genetic association with autism. This is important to determine whether therapeutic modulations of the immune function are legitimate avenues for novel therapy in selected cases of autism. Copyright © 2012 Elsevier B.V. All rights reserved.

  2. [The neurobiology of autism].

    Science.gov (United States)

    Kotsopoulos, S

    2007-07-01

    The research effort on autism has for several years been intensive. Recent progress in this field is due mainly to the development of increasingly sophisticated visualizing assessment methods of the brain. Most of the evidence reported in this review requires further replication and elaboration by ongoing research. Evidence from volumetric studies indicates that the brain of the child with autism deviates from normal paths at the early stages of development showing excessive growth during the first year and a half involving the hemispheres and the cerebellum. Post mortem studies have shown neuron abnormalities in the frontal and temporal cortex and the cerebellum. Studies using diffusion tensor imaging, an fMRI based method, have shown disruptions between white and grey matter in several areas of the hemispheres. Other studies investigating activation of the cortex showed lack of synchrony and coordination between anterior and posterior areas of the hemispheres. It has been suggested that the deviation in brain development in autism consists of excessive numbers of neurons which cause the cytoarchitectural deviation. A theory suggesting that the basic deficit in autism is due to dysfunction of the "mirror neuron system" requires further substantiation. The aetiology of autism is not known although risk factors have been identified. Predominant among them are genetic influences. The search is currently intensive for an understanding of the pathogenesis of the pathological deviation in the development of the brain in autism. Neurotrophic factors which determine the developmental steps of the brain are examined such as serotonin, brain-derived neurotrophic factor (BDNF), the neuropeptide reelin, neuroligines and others. There is evidence of some involvement of these factors with autism but it is still far from clear how they do interact with one another and how they lead to the pathological deviations observed in autism. The neurotrophic factors are evidently coded by

  3. Knowledge, attitudes, and perceptions of autism spectrum disorder in a stratified sampling of preschool teachers in China.

    Science.gov (United States)

    Liu, Yingna; Li, Jialing; Zheng, Qiaolan; Zaroff, Charles M; Hall, Brian J; Li, Xiuhong; Hao, Yuantao

    2016-05-13

    In China, children with Autism Spectrum Disorder (ASD) can potentially benefit from universal education policies and recent initiatives designed to address the needs of children with developmental disorders. However, adequate schooling is often unavailable for children with ASD, in part because teachers lack the knowledge and skills needed to work with this population. To better understand the current state of knowledge of ASD in China, we surveyed knowledge and attitudes regarding the disorder in preschool teachers. A total of 471 preschool teachers in the cities of Guangzhou and Foshan, China completed questionnaires assessing participant demographics, knowledge of typical child development and knowledge of ASD, attitudes towards ASD, practices and self-perceptions of efficacy in the education of children with ASD, and awareness of organizations and intervention approaches devoted to the care of individuals with ASD. The correlation between individual- and school-level variables with current knowledge of typical child development and ASD was examined using univariate and multivariate analyses. The majority (84%) of participants answered correctly more than half of the questionnaire items assessing understanding of typical child development. In contrast, 83% provided inaccurate responses to more than half of the questionnaire items assessing knowledge of ASD. Knowledge of typical child development and knowledge of ASD were both associated with geographic region (teachers in Guangzhou had greater knowledge than those in Foshan, p teachers in China, and greater teacher training and instruction is needed. Nonetheless, teachers report a willingness and motivation to gain the skills needed to maximize the educational experiences of children with ASD.

  4. Neural processing of intentional biological motion in unaffected siblings of children with autism spectrum disorder: an fMRI study.

    Science.gov (United States)

    Ahmed, Alex A; Vander Wyk, Brent C

    2013-12-01

    Despite often showing behaviorally typical levels of social cognitive ability, unaffected siblings of children with autism spectrum disorder have been found to show similar functional and morphological deficits within brain regions associated with social processing. They have also been reported to show increased activation to biological motion in these same regions, such as the posterior superior temporal sulcus (pSTS), relative to both children with autism and control children. It has been suggested that this increased activation may represent a compensatory reorganization of these regions as a result of the highly heritable genetic influence of autism. However, the response patterns of unaffected siblings in the domain of action perception are unstudied, and the phenomenon of compensatory activation has not yet been replicated. The present study used functional magnetic resonance imaging to determine the neural responses to intentional biological actions in 22 siblings of children with autism and 22 matched controls. The presented actions were either congruent or incongruent with the actor's emotional cue. Prior studies reported that typically developing children and adults, but not children with autism, show increased activation to incongruent actions (relative to congruent), within the pSTS and dorsolateral prefrontal cortex. We report that unaffected siblings did not show a compensatory response, or a preference for incongruent over congruent trials, in any brain region. Moreover, interaction analyses revealed a sub-region of the pSTS in which control children showed an incongruency preference to a significantly greater degree than siblings, which suggests a localized deficit in siblings. A sample of children with autism also did not show differential activation in the pSTS, providing further evidence that it is an area of selective disruption in children with autism and siblings. While reduced activation to both conditions was unique to the autism sample

  5. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.

    Science.gov (United States)

    Chow, Maggie L; Pramparo, Tiziano; Winn, Mary E; Barnes, Cynthia Carter; Li, Hai-Ri; Weiss, Lauren; Fan, Jian-Bing; Murray, Sarah; April, Craig; Belinson, Haim; Fu, Xiang-Dong; Wynshaw-Boris, Anthony; Schork, Nicholas J; Courchesne, Eric

    2012-01-01

    Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings of the disorder are largely unknown. Aberrant brain overgrowth is a well-replicated observation in the autism literature; but association, linkage, and expression studies have not identified genetic factors that explain this trajectory. Few studies have had sufficient statistical power to investigate whole-genome gene expression and genotypic variation in the autistic brain, especially in regions that display the greatest growth abnormality. Previous functional genomic studies have identified possible alterations in transcript levels of genes related to neurodevelopment and immune function. Thus, there is a need for genetic studies involving key brain regions to replicate these findings and solidify the role of particular functional pathways in autism pathogenesis. We therefore sought to identify abnormal brain gene expression patterns via whole-genome analysis of mRNA levels and copy number variations (CNVs) in autistic and control postmortem brain samples. We focused on prefrontal cortex tissue where excess neuron numbers and cortical overgrowth are pronounced in the majority of autism cases. We found evidence for dysregulation in pathways governing cell number, cortical patterning, and differentiation in young autistic prefrontal cortex. In contrast, adult autistic prefrontal cortex showed dysregulation of signaling and repair pathways. Genes regulating cell cycle also exhibited autism-specific CNVs in DNA derived from prefrontal cortex, and these genes were significantly associated with autism in genome-wide association study datasets. Our results suggest that CNVs and age-dependent gene expression changes in autism may reflect distinct pathological processes in the developing versus the mature autistic prefrontal cortex. Our results raise the hypothesis that genetic dysregulation in the developing brain leads to abnormal regional patterning, excess prefrontal neurons

  6. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.

    Directory of Open Access Journals (Sweden)

    Maggie L Chow

    Full Text Available Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings of the disorder are largely unknown. Aberrant brain overgrowth is a well-replicated observation in the autism literature; but association, linkage, and expression studies have not identified genetic factors that explain this trajectory. Few studies have had sufficient statistical power to investigate whole-genome gene expression and genotypic variation in the autistic brain, especially in regions that display the greatest growth abnormality. Previous functional genomic studies have identified possible alterations in transcript levels of genes related to neurodevelopment and immune function. Thus, there is a need for genetic studies involving key brain regions to replicate these findings and solidify the role of particular functional pathways in autism pathogenesis. We therefore sought to identify abnormal brain gene expression patterns via whole-genome analysis of mRNA levels and copy number variations (CNVs in autistic and control postmortem brain samples. We focused on prefrontal cortex tissue where excess neuron numbers and cortical overgrowth are pronounced in the majority of autism cases. We found evidence for dysregulation in pathways governing cell number, cortical patterning, and differentiation in young autistic prefrontal cortex. In contrast, adult autistic prefrontal cortex showed dysregulation of signaling and repair pathways. Genes regulating cell cycle also exhibited autism-specific CNVs in DNA derived from prefrontal cortex, and these genes were significantly associated with autism in genome-wide association study datasets. Our results suggest that CNVs and age-dependent gene expression changes in autism may reflect distinct pathological processes in the developing versus the mature autistic prefrontal cortex. Our results raise the hypothesis that genetic dysregulation in the developing brain leads to abnormal regional patterning, excess

  7. Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages

    Science.gov (United States)

    Winn, Mary E.; Barnes, Cynthia Carter; Li, Hai-Ri; Weiss, Lauren; Fan, Jian-Bing; Murray, Sarah; April, Craig; Belinson, Haim; Fu, Xiang-Dong; Wynshaw-Boris, Anthony; Schork, Nicholas J.; Courchesne, Eric

    2012-01-01

    Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings of the disorder are largely unknown. Aberrant brain overgrowth is a well-replicated observation in the autism literature; but association, linkage, and expression studies have not identified genetic factors that explain this trajectory. Few studies have had sufficient statistical power to investigate whole-genome gene expression and genotypic variation in the autistic brain, especially in regions that display the greatest growth abnormality. Previous functional genomic studies have identified possible alterations in transcript levels of genes related to neurodevelopment and immune function. Thus, there is a need for genetic studies involving key brain regions to replicate these findings and solidify the role of particular functional pathways in autism pathogenesis. We therefore sought to identify abnormal brain gene expression patterns via whole-genome analysis of mRNA levels and copy number variations (CNVs) in autistic and control postmortem brain samples. We focused on prefrontal cortex tissue where excess neuron numbers and cortical overgrowth are pronounced in the majority of autism cases. We found evidence for dysregulation in pathways governing cell number, cortical patterning, and differentiation in young autistic prefrontal cortex. In contrast, adult autistic prefrontal cortex showed dysregulation of signaling and repair pathways. Genes regulating cell cycle also exhibited autism-specific CNVs in DNA derived from prefrontal cortex, and these genes were significantly associated with autism in genome-wide association study datasets. Our results suggest that CNVs and age-dependent gene expression changes in autism may reflect distinct pathological processes in the developing versus the mature autistic prefrontal cortex. Our results raise the hypothesis that genetic dysregulation in the developing brain leads to abnormal regional patterning, excess prefrontal neurons

  8. Variations of the Functional Brain Network Efficiency in a Young Clinical Sample within the Autism Spectrum: A fNIRS Investigation

    Directory of Open Access Journals (Sweden)

    Yanwei Li

    2018-02-01

    Full Text Available Autism is a neurodevelopmental disorder with dimensional behavioral symptoms and various damages in the structural and functional brain. Previous neuroimaging studies focused on exploring the differences of brain development between individuals with and without autism spectrum disorders (ASD. However, few of them have attempted to investigate the individual differences of the brain features among subjects within the Autism spectrum. Our main goal was to explore the individual differences of neurodevelopment in young children with Autism by testing for the association between the functional network efficiency and levels of autistic behaviors, as well as the association between the functional network efficiency and age. Forty-six children with Autism (ages 2.0–8.9 years old participated in the current study, with levels of autistic behaviors evaluated by their parents. The network efficiency (global and local network efficiency were obtained from the functional networks based on the oxy-, deoxy-, and total-Hemoglobin series, respectively. Results indicated that the network efficiency decreased with age in young children with Autism in the deoxy- and total-Hemoglobin-based-networks, and children with a relatively higher level of autistic behaviors showed decreased network efficiency in the oxy-hemoglobin-based network. Results suggest individual differences of brain development in young children within the Autism spectrum, providing new insights into the psychopathology of ASD.

  9. Play complexity and toy engagement in preschoolers with autism spectrum disorder: Do girls and boys differ?

    Science.gov (United States)

    Harrop, Clare; Green, Jonathan; Hudry, Kristelle

    2017-01-01

    While sex differences in play have been extensively observed in typical development, only a handful of studies have explored this phenomenon in depth with children with autism spectrum disorders. This study explored sex differences in play complexity and toy engagement within caregiver-child interaction samples for preschool-aged children (2-5 years 11 months) with an autism spectrum disorder who were matched to typically developing children on sex and non-verbal development. Overall we found that girls and boys with autism spectrum disorder were largely equivalent in their play complexity. Despite similar play, girls and boys with autism spectrum disorder differed in a number of ways in their toy engagement, replicating traditional gender differences-girls played more with dolls and domestic items (though at lower rates than typically developing girls) and boys played more with the garage and cars (though at lower rates than typically developing boys). Our findings support the importance and utility of examining sex differences in autism spectrum disorder in light of those observed within typical development. © The Author(s) 2016.

  10. Using the brief observation of social communication change (BOSCC) to measure autism-specific development.

    Science.gov (United States)

    Kitzerow, Janina; Teufel, Karoline; Wilker, Christian; Freitag, Christine M

    2016-09-01

    To date no reliable and objective, change sensitive instrument for autistic symptoms is available. The brief observation of social communication change (BOSCC) was specifically developed to measure change of core autistic symptoms, for example, for use as outcome measure in early intervention trials. This study investigated quality criteria of a preliminary research version of the BOSCC in N = 21 children with autism spectrum disorder (ASD) who had participated for 1 year in the Frankfurt early intervention program (FFIP). BOSCC rating was done on play based ADOS video scenes. Inter-rater agreement on the BOSCC average total was very high. The BOSCC showed a significant decrease of autistic symptoms after 1 year with a medium effect size. Symptom specific improvements were captured by the social communication subscale and most single items. The BOSCC showed comparable change sensitivity to other autism specific instruments. Future studies should focus on the finalized BOSCC version, and replicate findings in a larger sample. Autism Res 2016, 9: 940-950. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

  11. The association of quality of social relations, symptom severity and intelligence with anxiety in children with autism spectrum disorders.

    Science.gov (United States)

    Eussen, Mart L J M; Van Gool, Arthur R; Verheij, Fop; De Nijs, Pieter F A; Verhulst, Frank C; Greaves-Lord, Kirstin

    2013-11-01

    Limited quality of social relations, milder symptom severity and higher intelligence were shown to account for higher anxiety levels in autism spectrum disorders. The current study replicated and extended earlier findings by combining these three determinants of anxiety in autism spectrum disorders in one study. The sample consisted of 134 school-aged children with autism spectrum disorders, of whom 58 (43%) had a co-morbid anxiety disorder according to the Diagnostic Interview Schedule for Children-Parent version. In this sample, we tested associations between these determinants and anxiety univariately and multivariately to clarify the unique contribution of all determinants. Since we hypothesized that the association between limited quality of social relations and anxiety would be amplified by low symptom severity and/or high intelligence, we additionally tested for moderating effects. We found that higher anxiety levels were associated with a lower quality of social relations and lower symptom severity. In this mainly high-functioning sample, intelligence was not related to anxiety levels. No moderation effects were found. Since lower quality of social relations and lower symptom severity are associated with higher anxiety levels in children with autism spectrum disorders, therapeutic interventions aimed at reducing anxiety in autism spectrum disorders should pay attention to improving social relations, and presumably children with a lower symptom severity could benefit most from such interventions.

  12. Database Replication Prototype

    OpenAIRE

    Vandewall, R.

    2000-01-01

    This report describes the design of a Replication Framework that facilitates the implementation and com-parison of database replication techniques. Furthermore, it discusses the implementation of a Database Replication Prototype and compares the performance measurements of two replication techniques based on the Atomic Broadcast communication primitive: pessimistic active replication and optimistic active replication. The main contributions of this report can be split into four parts....

  13. Brief report: accuracy and response time for the recognition of facial emotions in a large sample of children with autism spectrum disorders.

    Science.gov (United States)

    Fink, Elian; de Rosnay, Marc; Wierda, Marlies; Koot, Hans M; Begeer, Sander

    2014-09-01

    The empirical literature has presented inconsistent evidence for deficits in the recognition of basic emotion expressions in children with autism spectrum disorders (ASD), which may be due to the focus on research with relatively small sample sizes. Additionally, it is proposed that although children with ASD may correctly identify emotion expression they rely on more deliberate, more time-consuming strategies in order to accurately recognize emotion expressions when compared to typically developing children. In the current study, we examine both emotion recognition accuracy and response time in a large sample of children, and explore the moderating influence of verbal ability on these findings. The sample consisted of 86 children with ASD (M age = 10.65) and 114 typically developing children (M age = 10.32) between 7 and 13 years of age. All children completed a pre-test (emotion word-word matching), and test phase consisting of basic emotion recognition, whereby they were required to match a target emotion expression to the correct emotion word; accuracy and response time were recorded. Verbal IQ was controlled for in the analyses. We found no evidence of a systematic deficit in emotion recognition accuracy or response time for children with ASD, controlling for verbal ability. However, when controlling for children's accuracy in word-word matching, children with ASD had significantly lower emotion recognition accuracy when compared to typically developing children. The findings suggest that the social impairments observed in children with ASD are not the result of marked deficits in basic emotion recognition accuracy or longer response times. However, children with ASD may be relying on other perceptual skills (such as advanced word-word matching) to complete emotion recognition tasks at a similar level as typically developing children.

  14. Piloting the use of experience sampling method to investigate the everyday social experiences of children with Asperger syndrome/high functioning autism.

    Science.gov (United States)

    Cordier, Reinie; Brown, Nicole; Chen, Yu-Wei; Wilkes-Gillan, Sarah; Falkmer, Torbjorn

    2016-01-01

    This pilot study explored the nature and quality of social experiences of children with Asperger Syndrome/High Functioning Autism (AS/HFA) through experience sampling method (ESM) while participating in everyday activities. ESM was used to identify the contexts and content of daily life experiences. Six children with AS/HFA (aged 8-12) wore an iPod Touch on seven consecutive days, while being signalled to complete a short survey. Participants were in the company of others 88.3% of their waking time, spent 69.0% of their time with family and 3.8% with friends, but only conversed with others 26.8% of the time. Participants had more positive experiences and emotions when they were with friends compared with other company. Participating in leisure activities was associated with enjoyment, interest in the occasion, and having positive emotions. ESM was found to be helpful in identifying the nature and quality of social experiences of children with AS/HFA from their perspective.

  15. The role of coping strategies and self-efficacy as predictors of life satisfaction in a sample of parents of children with autism spectrum disorder.

    Science.gov (United States)

    Luque Salas, Bárbara; Yáñez Rodríguez, Virginia; Tabernero Urbieta, Carmen; Cuadrado, Esther

    2017-02-01

    This research aims to understand the role of coping strategies and self-efficacy expectations as predictors of life satisfaction in a sample of parents of boys and girls diagnosed with autistic spectrum disorder. A total of 129 parents (64 men and 65 women) answered a questionnaire on life-satisfaction, coping strategies and self-efficacy scales. Using a regression model, results show that the age of the child is associated with a lower level of satisfaction in parents. The results show that self-efficacy is the variable that best explains the level of satisfaction in mothers, while the use of problem solving explains a higher level of satisfaction in fathers. Men and women show similar levels of life satisfaction; however significant differences were found in coping strategies where women demonstrated higher expressing emotions and social support strategies than men. The development of functional coping strategies and of a high level of self-efficacy represents a key tool for adapting to caring for children with autism. Our results indicated the necessity of early intervention with parents to promote coping strategies, self-efficacy and high level of life satisfaction.

  16. Autism through the Lifespan

    Science.gov (United States)

    ... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Donate Home What is Autism? What is Autism? ... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Autism through the Lifespan Home / Living with Autism / ...

  17. Are We Under-Estimating the Association between Autism Symptoms?: The Importance of Considering Simultaneous Selection When Using Samples of Individuals Who Meet Diagnostic Criteria for an Autism Spectrum Disorder

    Science.gov (United States)

    Murray, Aja Louise; McKenzie, Karen; Kuenssberg, Renate; O'Donnell, Michael

    2014-01-01

    The magnitude of symptom inter-correlations in diagnosed individuals has contributed to the evidence that autism spectrum disorders (ASD) is a fractionable disorder. Such correlations may substantially under-estimate the population correlations among symptoms due to simultaneous selection on the areas of deficit required for diagnosis. Using…

  18. Patterns of Competence and Adjustment among Adolescents from Authoritative, Authoritarian, Indulgent, and Neglectful Homes: A Replication in a Sample of Serious Juvenile Offenders

    Science.gov (United States)

    Steinberg, Laurence; Blatt-Eisengart, Ilana; Cauffman, Elizabeth

    2006-01-01

    The correlates of authoritative, authoritarian, indulgent, and neglectful parenting were examined within a sample of 1,355 14- to 18-year-olds adjudicated of serious criminal offenses. The sample is composed primarily of poor, ethnic-minority youth living in impoverished urban neighborhoods. As has been found in community samples, juvenile…

  19. Prelife catalysts and replicators

    OpenAIRE

    Ohtsuki, Hisashi; Nowak, Martin A.

    2009-01-01

    Life is based on replication and evolution. But replication cannot be taken for granted. We must ask what there was prior to replication and evolution. How does evolution begin? We have proposed prelife as a generative system that produces information and diversity in the absence of replication. We model prelife as a binary soup of active monomers that form random polymers. ‘Prevolutionary’ dynamics can have mutation and selection prior to replication. Some sequences might have catalytic acti...

  20. Preliminary Efficacy of Adapted Responsive Teaching for Infants at Risk of Autism Spectrum Disorder in a Community Sample

    Directory of Open Access Journals (Sweden)

    Grace T. Baranek

    2015-01-01

    Full Text Available This study examined the (a feasibility of enrolling 12-month-olds at risk of ASD from a community sample into a randomized controlled trial, (b subsequent utilization of community services, and (c potential of a novel parent-mediated intervention to improve outcomes. The First Year Inventory was used to screen and recruit 12-month-old infants at risk of ASD to compare the effects of 6–9 months of Adapted Responsive Teaching (ART versus referral to early intervention and monitoring (REIM. Eighteen families were followed for ~20 months. Assessments were conducted before randomization, after treatment, and at 6-month follow-up. Utilization of community services was highest for the REIM group. ART significantly outperformed REIM on parent-reported and observed measures of child receptive language with good linear model fit. Multiphase growth models had better fit for more variables, showing the greatest effects in the active treatment phase, where ART outperformed REIM on parental interactive style (less directive, child sensory responsiveness (less hyporesponsive, and adaptive behavior (increased communication and socialization. This study demonstrates the promise of a parent-mediated intervention for improving developmental outcomes for infants at risk of ASD in a community sample and highlights the utility of earlier identification for access to community services earlier than standard practice.

  1. A possible role of the Infant/Toddler Sensory Profile in screening for autism: a proof-of-concept study in the specific sample of prematurely born children with birth weights <1,500 g

    Directory of Open Access Journals (Sweden)

    Beranova S

    2017-01-01

    to identify all of the ASD children in our sample (confirmed by cross-validation. The proposed screening tool is scored as follows: 1 if the overall CSBS-DP-ITC value is <45.5, then the screening is positive; 2 if the overall CSBS-DP-ITC value is ≥45.5 and the z-score of the Sensation Seeking subscale of ITSP is ≥1.54, then the screening is positive; 3 otherwise, the screening is negative.Conclusion: The use of CSBS-DP-ITC in combination with the Sensation Seeking subscale of the ITSP improved the accuracy of autism screening in preterm children. Keywords: autism spectrum disorders, preterm children, screening, Modified Checklist for Autism in Toddlers, Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist, Infant/Toddler Sensory Profile

  2. Three Conceptual Replication Studies in Group Theory

    Science.gov (United States)

    Melhuish, Kathleen

    2018-01-01

    Many studies in mathematics education research occur with a nonrepresentative sample and are never replicated. To challenge this paradigm, I designed a large-scale study evaluating student conceptions in group theory that surveyed a national, representative sample of students. By replicating questions previously used to build theory around student…

  3. Concordance between a simpler definition of major depressive disorder and Diagnostic and statistical manual of mental disorders, fourth edition: an independent replication in an outpatient sample.

    Science.gov (United States)

    Zimmerman, Mark; Emmert-Aronson, Benjamin O; Brown, Timothy A

    2011-01-01

    The diagnostic and statistical manual of mental disorders, fourth edition (DSM-IV) symptom criteria for major depressive disorder (MDD) are somewhat lengthy with several studies showing that clinicians have difficulty recalling all 9 symptoms. Moreover, the criteria include somatic symptoms that are difficult to apply in patients with medical illnesses. To address these problems, a simpler definition of MDD was developed that did not include the somatic symptoms. Previous reports found high levels of agreement between the simplified and full DSM-IV definition of MDD. However, the same research group has conducted all previous studies of psychiatric patients. The goal of the present study was to determine if a high level of concordance between the 2 definitions would be replicated in an independent setting. We interviewed 2907 psychiatric outpatients presenting for treatment at the Boston University Center for Anxiety and Related Disorders. A trained diagnostic rater administered a semistructured interview and inquired about all symptoms of depression for all patients. A high level of agreement was found between the DSM-IV and the simpler definition of MDD. The absolute level of agreement between the 2 definitions was 95.5% and the κ coefficient was 0.88. Thus, consistent with previous studies, a high level of concordance was found between a simpler definition of MDD and the DSM-IV definition. This new definition offers 2 advantages over the current DSM-IV definition-it is briefer, and it is easier to apply with medically ill patients because it is free of somatic symptoms. Implications of these findings for DSM-5 are discussed. Copyright © 2011 Elsevier Inc. All rights reserved.

  4. State-Dependent Differences in Functional Connectivity in Young Children With Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Ashura W. Buckley

    2015-12-01

    Interpretation: Functional connectivity is distinctly different in children with autism compared to samples with typical development and developmental delay without autism. Differences in connectivity in autism are state and region related. In this study, children with autism were characterized by a dynamically evolving pattern of altered connectivity.

  5. Patterns of Competence and Adjustment Among Adolescents from Authoritative, Authoritarian, Indulgent, and Neglectful Homes: A Replication in a Sample of Serious Juvenile Offenders.

    Science.gov (United States)

    Steinberg, Laurence; Blatt-Eisengart, Ilana; Cauffman, Elizabeth

    2006-03-01

    The correlates of authoritative, authoritarian, indulgent, and neglectful parenting were examined within a sample of 1,355 14- to 18-year-olds adjudicated of serious criminal offenses. The sample is composed primarily of poor, ethnic-minority youth living in impoverished urban neighborhoods. As has been found in community samples, juvenile offenders who describe their parents as authoritative are more psychosocially mature, more academically competent, less prone to internalized distress, and less prone to externalizing problems than their peers,whereas those who describe their parents as neglectful are less mature, less competent, and more troubled. Juvenile offenders who characterize their parents as either authoritarian or indulgent typically score somewhere between the two extremes, although those from authoritarian homes are consistently better functioning than those from indulgent homes. These patterns did not vary as a function of adolescents' ethnicity or gender.

  6. Verification of Parent-Report of Child Autism Spectrum Disorder Diagnosis to a Web-Based Autism Registry

    Science.gov (United States)

    Daniels, Amy M.; Rosenberg, Rebecca E.; Anderson, Connie; Law, J. Kiely; Marvin, Alison R.; Law, Paul A.

    2012-01-01

    Growing interest in autism spectrum disorder (ASD) research requires increasingly large samples to uncover epidemiologic trends; such a large dataset is available in a national, web-based autism registry, the Interactive Autism Network (IAN). The objective of this study was to verify parent-report of professional ASD diagnosis to the registry's…

  7. Sampling

    CERN Document Server

    Thompson, Steven K

    2012-01-01

    Praise for the Second Edition "This book has never had a competitor. It is the only book that takes a broad approach to sampling . . . any good personal statistics library should include a copy of this book." —Technometrics "Well-written . . . an excellent book on an important subject. Highly recommended." —Choice "An ideal reference for scientific researchers and other professionals who use sampling." —Zentralblatt Math Features new developments in the field combined with all aspects of obtaining, interpreting, and using sample data Sampling provides an up-to-date treat

  8. Are Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder Different Manifestations of One Overarching Disorder? Cognitive and Symptom Evidence from a Clinical and Population-Based Sample

    Science.gov (United States)

    van der Meer, Jolanda M. J.; Oerlemans, Anoek M.; van Steijn, Daphne J.; Lappenschaar, Martijn G. A.; de Sonneville, Leo M. J.; Buitelaar, Jan K.; Rommelse, Nanda N. J.

    2012-01-01

    Objective: Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur. Given the heterogeneity of both disorders, several more homogeneous ASD-ADHD comorbidity subgroups may exist. The current study examined whether such subgroups exist, and whether their overlap or distinctiveness in associated…

  9. Sexual Well-Being of a Community Sample of High-Functioning Adults on the Autism Spectrum Who Have Been in a Romantic Relationship

    Science.gov (United States)

    Byers, E. Sandra; Nichols, Shana; Voyer, Susan D.; Reilly, Georgianna

    2013-01-01

    This study explored factors (gender, age, relationship status, symptomatology) associated with the sexual well-being of 141 (56 men and 85 women) adults with high-functioning autism and Asperger syndrome (HFA/AS) living in the community. Participants completed an online survey consisting of a measure of autistic symptoms as well as measures of…

  10. Is Social Categorization the Missing Link between Weak Central Coherence and Mental State Inference Abilities in Autism? Preliminary Evidence from a General Population Sample

    Science.gov (United States)

    Skorich, Daniel P.; May, Adrienne R.; Talipski, Louisa A.; Hall, Marnie H.; Dolstra, Anita J.; Gash, Tahlia B.; Gunningham, Beth H.

    2016-01-01

    We explore the relationship between the "theory of mind" (ToM) and "central coherence" difficulties of autism. We introduce covariation between hierarchically-embedded categories and social information--at the local level, the global level, or at both levels simultaneously--within a category confusion task. We then ask…

  11. Oppositional Defiant and Conduct Disorder Behaviors in Boys with Autism Spectrum Disorder with and without Attention-Deficit Hyperactivity Disorder versus Several Comparison Samples

    Science.gov (United States)

    Guttmann-Steinmetz, Sarit; Gadow, Kenneth D.; DeVincent, Carla J.

    2009-01-01

    We compared disruptive behaviors in boys with either autism spectrum disorder (ASD) plus ADHD (n = 74), chronic multiple tic disorder plus ADHD (n = 47), ADHD Only (n = 59), or ASD Only (n = 107). Children were evaluated with parent and teacher versions of the Child Symptom Inventory-4 including parent- (n = 168) and teacher-rated (n = 173)…

  12. Exploring the Cognitive Features in Children with Autism Spectrum Disorder, Their Co-Twins, and Typically Developing Children within a Population-Based Sample

    Science.gov (United States)

    Brunsdon, Victoria E. A.; Colvert, Emma; Ames, Catherine; Garnett, Tracy; Gillan, Nicola; Hallett, Victoria; Lietz, Stephanie; Woodhouse, Emma; Bolton, Patrick; Happé, Francesca

    2015-01-01

    Background: The behavioural symptoms of autism spectrum disorder (ASD) are thought to reflect underlying cognitive deficits/differences. The findings in the literature are somewhat mixed regarding the cognitive features of ASD. This study attempted to address this issue by investigating a range of cognitive deficits and the prevalence of multiple…

  13. Are autism spectrum disorder and attention-deficit/hyperactivity disorder different manifestations of one overarching disorder? : Cognitive and symptom evidence from a clinical and population-based sample

    NARCIS (Netherlands)

    van der Meer, Jolanda M J; Oerlemans, Anoek M; van Steijn, Daphne J; Lappenschaar, Martijn G A; de Sonneville, Leo M J; Buitelaar, Jan K; Rommelse, Nanda N J

    2012-01-01

    OBJECTIVE: Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur. Given the heterogeneity of both disorders, several more homogeneous ASD-ADHD comorbidity subgroups may exist. The current study examined whether such subgroups exist, and whether their

  14. The altered promoter methylation of oxytocin receptor gene in autism.

    Science.gov (United States)

    Elagoz Yuksel, Mine; Yuceturk, Betul; Karatas, Omer Faruk; Ozen, Mustafa; Dogangun, Burak

    Autism spectrum disorder (ASD) is one of the lifelong existing disorders. Abnormal methylation status of gene promoters of oxytonergic system has been implicated as among the etiologic factors of ASDs. We, therefore, investigated the methylation frequency of oxytocin receptor gene (OXTR) promoter from peripheral blood samples of children with autistic features. Our sample includes 66 children in total (22-94 months); 27 children with ASDs according to the DSM-IV-TR and the Childhood Autism Rating Scale (CARS) and 39 children who do not have any autistic like symptoms as the healthy control group. We investigated the DNA methylation status of OXTR promoter by methylation specific enzymatic digestion of genomic DNA and polymerase chain reaction. A significant relationship has been found between ASDs and healthy controls for the reduction of methylation frequency of the regions MT1 and MT3 of OXTR. We could not find any association in the methylation frequency of MT2 and MT4 regions of OXTR. Although our findings indicate high frequency of OXTR promoter hypomethylation in ASDs, there is need for independent replication of the results for a bigger sample set. We expect that future studies with the inclusion of larger, more homogeneous samples will attempt to disentangle the causes of ASDs.

  15. A Comparison of Urinary Mercury between Children with Autism Spectrum Disorders and Control Children

    Science.gov (United States)

    Wright, Barry; Pearce, Helen; Allgar, Victoria; Miles, Jeremy; Whitton, Clare; Leon, Irene; Jardine, Jenny; McCaffrey, Nicola; Smith, Rob; Holbrook, Ian; Lewis, John; Goodall, David; Alderson-Day, Ben

    2012-01-01

    Background Urinary mercury concentrations are used in research exploring mercury exposure. Some theorists have proposed that autism is caused by mercury toxicity. We set out to test whether mercury concentrations in the urine of children with autism were significantly increased or decreased compared to controls or siblings. Methods Blinded cohort analyses were carried out on the urine of 56 children with autism spectrum disorders (ASD) compared to their siblings (n = 42) and a control sample of children without ASD in mainstream (n = 121) and special schools (n = 34). Results There were no statistically significant differences in creatinine levels, in uncorrected urinary mercury levels or in levels of mercury corrected for creatinine, whether or not the analysis is controlled for age, gender and amalgam fillings. Conclusions This study lends no support for the hypothesis of differences in urinary mercury excretion in children with autism compared to other groups. Some of the results, however, do suggest further research in the area may be warranted to replicate this in a larger group and with clear measurement of potential confounding factors. PMID:22355303

  16. A comparison of urinary mercury between children with autism spectrum disorders and control children.

    Directory of Open Access Journals (Sweden)

    Barry Wright

    Full Text Available BACKGROUND: Urinary mercury concentrations are used in research exploring mercury exposure. Some theorists have proposed that autism is caused by mercury toxicity. We set out to test whether mercury concentrations in the urine of children with autism were significantly increased or decreased compared to controls or siblings. METHODS: Blinded cohort analyses were carried out on the urine of 56 children with autism spectrum disorders (ASD compared to their siblings (n = 42 and a control sample of children without ASD in mainstream (n = 121 and special schools (n = 34. RESULTS: There were no statistically significant differences in creatinine levels, in uncorrected urinary mercury levels or in levels of mercury corrected for creatinine, whether or not the analysis is controlled for age, gender and amalgam fillings. CONCLUSIONS: This study lends no support for the hypothesis of differences in urinary mercury excretion in children with autism compared to other groups. Some of the results, however, do suggest further research in the area may be warranted to replicate this in a larger group and with clear measurement of potential confounding factors.

  17. Unusual Fears in Children with Autism

    Science.gov (United States)

    Mayes, Susan Dickerson; Calhoun, Susan L.; Aggarwal, Richa; Baker, Courtney; Mathapati, Santosh; Molitoris, Sarah; Mayes, Rebecca D.

    2013-01-01

    Unusual fears have long been recognized as common in autism, but little research exists. In our sample of 1033 children with autism, unusual fears were reported by parents of 421 (41%) of the children, representing 92 different fears. Many additional children had common childhood fears (e.g., dogs, bugs, and the dark). More than half of children…

  18. Behavioral phenotypes of genetic mouse models of autism.

    Science.gov (United States)

    Kazdoba, T M; Leach, P T; Crawley, J N

    2016-01-01

    More than a hundred de novo single gene mutations and copy-number variants have been implicated in autism, each occurring in a small subset of cases. Mutant mouse models with syntenic mutations offer research tools to gain an understanding of the role of each gene in modulating biological and behavioral phenotypes relevant to autism. Knockout, knockin and transgenic mice incorporating risk gene mutations detected in autism spectrum disorder and comorbid neurodevelopmental disorders are now widely available. At present, autism spectrum disorder is diagnosed solely by behavioral criteria. We developed a constellation of mouse behavioral assays designed to maximize face validity to the types of social deficits and repetitive behaviors that are central to an autism diagnosis. Mouse behavioral assays for associated symptoms of autism, which include cognitive inflexibility, anxiety, hyperactivity, and unusual reactivity to sensory stimuli, are frequently included in the phenotypic analyses. Over the past 10 years, we and many other laboratories around the world have employed these and additional behavioral tests to phenotype a large number of mutant mouse models of autism. In this review, we highlight mouse models with mutations in genes that have been identified as risk genes for autism, which work through synaptic mechanisms and through the mTOR signaling pathway. Robust, replicated autism-relevant behavioral outcomes in a genetic mouse model lend credence to a causal role for specific gene contributions and downstream biological mechanisms in the etiology of autism. © 2015 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  19. Myths about autism: An exploratory study using focus groups.

    Science.gov (United States)

    John, Rachael Ps; Knott, Fiona J; Harvey, Kate N

    2017-08-01

    Individuals with autism are often stigmatised and isolated by their typically developing peers according to parental, teacher and self-reports. While quantitative studies often report negative attitudes towards individuals with autism, it is still unclear how understandings of autism influence attitudes. In this exploratory study, misconceptions or myths about autism, that is, the cognitive component of attitudes, were examined using focus groups. Purposive sampling was used to recruit undergraduate and postgraduate students, and adults with and without experience of autism, to one of the five focus groups (n = 37). Content analysis was used to identify emergent themes. The data identified seven commonly held beliefs about individuals with autism. The first four were related to social interaction, such as that people with autism do not like to be touched. The fifth reflected the view that all individuals with autism have a special talent, and the final two concerned beliefs that people with autism are dangerous. The findings from this study demonstrate that people with varying experience or knowledge of autism often hold inaccurate beliefs about autism. These findings improve our understandings of lay beliefs about autism and will aid the development and implementation of interventions designed to improve lay knowledge of autism.

  20. Data from Investigating Variation in Replicability: A “Many Labs” Replication Project

    Directory of Open Access Journals (Sweden)

    Richard A. Klein

    2014-04-01

    Full Text Available This dataset is from the Many Labs Replication Project in which 13 effects were replicated across 36 samples and over 6,000 participants. Data from the replications are included, along with demographic variables about the participants and contextual information about the environment in which the replication was conducted. Data were collected in-lab and online through a standardized procedure administered via an online link. The dataset is stored on the Open Science Framework website. These data could be used to further investigate the results of the included 13 effects or to study replication and generalizability more broadly.

  1. Replication of High Fetal Alcohol Spectrum Disorders Prevalence Rates, Child Characteristics, and Maternal Risk Factors in a Second Sample of Rural Communities in South Africa.

    Science.gov (United States)

    May, Philip A; De Vries, Marlene M; Marais, Anna-Susan; Kalberg, Wendy O; Buckley, David; Adnams, Colleen M; Hasken, Julie M; Tabachnick, Barbara; Robinson, Luther K; Manning, Melanie A; Bezuidenhout, Heidre; Adam, Margaret P; Jones, Kenneth L; Seedat, Soraya; Parry, Charles D H; Hoyme, H Eugene

    2017-05-12

    Background : Prevalence and characteristics of fetal alcohol syndrome (FAS) and total fetal alcohol spectrum disorders (FASD) were studied in a second sample of three South African rural communities to assess change. Methods : Active case ascertainment focused on children with height, weight and/or head circumference ≤25th centile and randomly-selected children. Final diagnoses were based on dysmorphology, neurobehavioral scores, and maternal risk interviews. Results : Cardinal facial features, head circumference, and total dysmorphology scores differentiated specific FASD diagnostic categories in a somewhat linear fashion but all FASD traits were significantly worse than those of randomly-selected controls. Neurodevelopmental delays were significantly worse for children with FASD than controls. Binge alcohol use was clearly documented as the proximal maternal risk factor for FASD, and significant distal risk factors were: low body mass, education, and income; high gravidity, parity, and age at birth of the index child. FAS rates continue to extremely high in these communities at 9-129 per 1000 children. Total FASD affect 196-276 per 1000 or 20-28% of the children in these communities. Conclusions : Very high rates of FASD persist in these general populations where regular, heavy drinking, often in a binge fashion, co-occurs with low socioeconomic conditions.

  2. Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders.

    Science.gov (United States)

    Huerta, Marisela; Bishop, Somer L; Duncan, Amie; Hus, Vanessa; Lord, Catherine

    2012-10-01

    Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses. Three data sets included 4,453 children with DSM-IV clinical PDD diagnoses and 690 with non-PDD diagnoses (e.g., language disorder). Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) and clinical observation instrument (Autism Diagnostic Observation Schedule) were matched to DSM-5 criteria and used to evaluate the sensitivity and specificity of the proposed DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. Based on just parent data, the proposed DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses. Sensitivity remained high in specific subgroups, including girls and children under 4. The specificity of DSM-5 ASD was 0.53 overall, while the specificity of DSM-IV ranged from 0.24, for clinically diagnosed PDD not otherwise specified (PDD-NOS), to 0.53, for autistic disorder. When data were required from both parent and clinical observation, the specificity of the DSM-5 criteria increased to 0.63. These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger's disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.

  3. Assessment of Hair Aluminum, Lead, and Mercury in a Sample of Autistic Egyptian Children: Environmental Risk Factors of Heavy Metals in Autism.

    Science.gov (United States)

    Mohamed, Farida El Baz; Zaky, Eman Ahmed; El-Sayed, Adel Bassuoni; Elhossieny, Reham Mohammed; Zahra, Sally Soliman; Salah Eldin, Waleed; Youssef, Walaa Yousef; Khaled, Rania Abdelmgeed; Youssef, Azza Mohamed

    2015-01-01

    The etiological factors involved in the etiology of autism remain elusive and controversial, but both genetic and environmental factors have been implicated. The aim of this study was to assess the levels and possible environmental risk factors and sources of exposure to mercury, lead, and aluminum in children with autism spectrum disorder (ASD) as compared to their matched controls. One hundred ASD children were studied in comparison to 100 controls. All participants were subjected to clinical evaluation and measurement of mercury, lead, and aluminum through hair analysis which reflects past exposure. The mean Levels of mercury, lead, and aluminum in hair of the autistic patients were significantly higher than controls. Mercury, lead, and aluminum levels were positively correlated with maternal fish consumptions, living nearby gasoline stations, and the usage of aluminum pans, respectively. Levels of mercury, lead, and aluminum in the hair of autistic children are higher than controls. Environmental exposure to these toxic heavy metals, at key times in development, may play a causal role in autism.

  4. Prevalence and impact of unhealthy weight in a national sample of US adolescents with autism and other learning and behavioral disabilities.

    Science.gov (United States)

    Phillips, Keydra L; Schieve, Laura A; Visser, Susanna; Boulet, Sheree; Sharma, Andrea J; Kogan, Michael D; Boyle, Coleen A; Yeargin-Allsopp, Marshalyn

    2014-10-01

    We estimated the prevalence of obesity, overweight, and underweight among US adolescents with and without autism and other learning and behavioral developmental disabilities (DDs) and assessed the health consequences of obesity among adolescents with DDs. From the 2008 to 2010 National Health Interview Survey, we selected 9,619 adolescents ages 12-17 years. Parent respondents reported weight, height, presence of DDs and health conditions. We calculated body mass index (BMI) and defined obesity, overweight, and underweight as ≥95th, ≥85th to obesity and underweight prevalences were higher among adolescents with than without DDs [adjusted prevalence ratios (aPR) 1.5 (1.25-1.75) and 1.5 (1.01-2.20), respectively]. Obesity was elevated among adolescents with all DD types, and was highest among the autism subgroup [aPR 2.1 (1.44-3.16)]. Adolescents with either a DD or obesity had higher prevalences of common respiratory, gastrointestinal, dermatological and neurological conditions/symptoms than nonobese adolescents without DDs. Adolescents with both DDs and obesity had the highest estimates for most conditions. Obesity is high among adolescents with autism and other DDs and poses added chronic health risks. Obesity prevention and management approaches for this vulnerable population subgroup need further consideration.

  5. Do the venous blood samples replicate malaria parasite densities found in capillary blood? A field study performed in naturally-infected asymptomatic children in Cameroon.

    Science.gov (United States)

    Sandeu, Maurice M; Bayibéki, Albert N; Tchioffo, Majoline T; Abate, Luc; Gimonneau, Geoffrey; Awono-Ambéné, Parfait H; Nsango, Sandrine E; Diallo, Diadier; Berry, Antoine; Texier, Gaétan; Morlais, Isabelle

    2017-08-17

    The measure of new drug- or vaccine-based approaches for malaria control is based on direct membrane feeding assays (DMFAs) where gametocyte-infected blood samples are offered to mosquitoes through an artificial feeder system. Gametocyte donors are identified by the microscopic detection and quantification of malaria blood stages on blood films prepared using either capillary or venous blood. However, parasites are known to sequester in the microvasculature and this phenomenon may alter accurate detection of parasites in blood films. The blood source may then impact the success of mosquito feeding experiments and investigations are needed for the implementation of DMFAs under natural conditions. Thick blood smears were prepared from blood obtained from asymptomatic children attending primary schools in the vicinity of Mfou (Cameroon) over four transmission seasons. Parasite densities were determined microscopically from capillary and venous blood for 137 naturally-infected gametocyte carriers. The effect of the blood source on gametocyte and asexual stage densities was then assessed by fitting cumulative link mixed models (CLMM). DMFAs were performed to compare the infectiousness of gametocytes from the different blood sources to mosquitoes. Prevalence of Plasmodium falciparum asexual stages among asymptomatic children aged from 4 to 15 years was 51.8% (2116/4087). The overall prevalence of P. falciparum gametocyte carriage was 8.9% and varied from one school to another. No difference in the density of gametocyte and asexual stages was found between capillary and venous blood. Attempts to perform DMFAs with capillary blood failed. Plasmodium falciparum malaria parasite densities do not differ between capillary and venous blood in asymptomatic subjects for both gametocyte and trophozoite stages. This finding suggests that the blood source should not interfere with transmission efficiency in DMFAs.

  6. Contextual Autism

    DEFF Research Database (Denmark)

    Raahauge, Kirsten Marie

    2009-01-01

    This project deals with the notion of ghost anthropologically and artistic. The contextual autism of ghosting reveals itself as a sensation of in-betweeness in art as well as in everyday life. The ghost is not easily defined; as Jacques Derrida states in Spectres of Marx (1993/1994) about...

  7. DNA replication and cancer

    DEFF Research Database (Denmark)

    Boyer, Anne-Sophie; Walter, David; Sørensen, Claus Storgaard

    2016-01-01

    A dividing cell has to duplicate its DNA precisely once during the cell cycle to preserve genome integrity avoiding the accumulation of genetic aberrations that promote diseases such as cancer. A large number of endogenous impacts can challenge DNA replication and cells harbor a battery of pathways...... causing DNA replication stress and genome instability. Further, we describe cellular and systemic responses to these insults with a focus on DNA replication restart pathways. Finally, we discuss the therapeutic potential of exploiting intrinsic replicative stress in cancer cells for targeted therapy....

  8. A genome-wide scan for common alleles affecting risk for autism

    Science.gov (United States)

    Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R.; Correia, Catarina; Abrahams, Brett S.; Sykes, Nuala; Pagnamenta, Alistair T.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J.; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R.; Casallo, Guillermo; Casey, Jillian; Chu, Su H.; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L.; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Fombonne, Eric; Freitag, Christine M.; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J.; Hakonarson, Hakon; Heron, Elizabeth A.; Hill, Matthew; Holt, Richard; Howe, Jennifer L.; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M.; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M.; Lamb, Janine A.; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L.; Lionel, Anath C.; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C.; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R.; McConachie, Helen; McDougle, Christopher J.; McGrath, Jane; McMahon, William M.; Melhem, Nadine M.; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J.; Mirza, Ghazala K.; Munson, Jeff; Nelson, Stanley F.; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R.; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L.; Bierut, Laura J.; Rice, John P.; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C.; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P.; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B.; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H.; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L.; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D.; Cantor, Rita M.; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Gallagher, Louise; Geschwind, Daniel H.; Gill, Michael; Haines, Jonathan L.; Miller, Judith; Monaco, Anthony P.; Nurnberger, John I.; Paterson, Andrew D.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Sutcliffe, James S.; Szatmari, Peter; Vicente, Astrid M.; Vieland, Veronica J.; Wijsman, Ellen M.; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim

    2010-01-01

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. PMID:20663923

  9. A genome-wide scan for common alleles affecting risk for autism.

    LENUS (Irish Health Repository)

    Anney, Richard

    2010-10-15

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner\\'s curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

  10. A genome-wide scan for common alleles affecting risk for autism.

    Science.gov (United States)

    Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Sykes, Nuala; Pagnamenta, Alistair T; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Melhem, Nadine M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Miller, Judith; Monaco, Anthony P; Nurnberger, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim

    2010-10-15

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

  11. Prenatal Exposure to Maternal Cigarette Smoking and DNA Methylation: Epigenome-Wide Association in a Discovery Sample of Adolescents and Replication in an Independent Cohort at Birth through 17 Years of Age

    Science.gov (United States)

    Lee, Ken W.K.; Richmond, Rebecca; Hu, Pingzhao; French, Leon; Shin, Jean; Bourdon, Celine; Reischl, Eva; Waldenberger, Melanie; Zeilinger, Sonja; Gaunt, Tom; McArdle, Wendy; Ring, Susan; Woodward, Geoff; Bouchard, Luigi; Gaudet, Daniel; Smith, George Davey; Relton, Caroline; Paus, Tomas

    2014-01-01

    , Pausova Z. 2015. Prenatal exposure to maternal cigarette smoking and DNA methylation: epigenome-wide association in a discovery sample of adolescents and replication in an independent cohort at birth through 17 years of age. Environ Health Perspect 123:193–199; http://dx.doi.org/10.1289/ehp.1408614 PMID:25325234

  12. Diagnosing Autism Spectrum Disorders in Adults : the Use of Autism Diagnostic Observation Schedule (ADOS) Module 4

    NARCIS (Netherlands)

    Bastiaansen, Jojanneke A.; Meffert, Harma; Hein, Simone; Huizinga, Petra; Ketelaars, Cees; Pijnenborg, Marieke; Bartels, Arnold; Minderaa, Ruud; Keysers, Christian; de Bildt, Annelies

    Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a

  13. Diagnosing Autism Spectrum Disorders in Adults: The Use of Autism Diagnostic Observation Schedule (ADOS) Module 4

    Science.gov (United States)

    Bastiaansen, Jojanneke A.; Meffert, Harma; Hein, Simone; Huizinga, Petra; Ketelaars, Cees; Pijnenborg, Marieke; Bartels, Arnold; Minderaa, Ruud; Keysers, Christian; de Bildt, Annelies

    2011-01-01

    Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a reliable instrument with good predictive value. It…

  14. Autism Treatment Survey: Services Received by Children with Autism Spectrum Disorders in Public School Classrooms

    Science.gov (United States)

    Hess, Kristen L.; Morrier, Michael J.; Heflin, L.; Ivey, Michelle L.

    2008-01-01

    The Autism Treatment Survey was developed to identify strategies used in education of children with autism spectrum disorders (ASD) in Georgia. Respondents of the web-based survey included a representative sample of 185 teachers across the state, reporting on 226 children with ASD in grades preschool-12th. The top five strategies being used in…

  15. Prevalence and Impact of Unhealthy Weight in a National Sample of US Adolescents with Autism and Other Learning and Behavioral Disabilities

    Science.gov (United States)

    Phillips, Keydra L.; Visser, Susanna; Boulet, Sheree; Sharma, Andrea J.; Kogan, Michael D.; Boyle, Coleen A.; Yeargin-Allsopp, Marshalyn

    2015-01-01

    We estimated the prevalence of obesity, overweight, and underweight among US adolescents with and without autism and other learning and behavioral developmental disabilities (DDs) and assessed the health consequences of obesity among adolescents with DDs. From the 2008 to 2010 National Health Interview Survey, we selected 9,619 adolescents ages 12–17 years. Parent respondents reported weight, height, presence of DDs and health conditions. We calculated body mass index (BMI) and defined obesity, overweight, and underweight as ≥95th, ≥85th to learning disorder/other developmental delay. We compared BMI outcomes among adolescents in each DD group versus adolescents without DDs using multivariable logistic regression. Socio-demographic factors and birthweight were included as confounders. Estimates were weighted to reflect the US population. Both obesity and underweight prevalences were higher among adolescents with than without DDs [adjusted prevalence ratios (aPR) 1.5 (1.25–1.75) and 1.5 (1.01–2.20), respectively]. Obesity was elevated among adolescents with all DD types, and was highest among the autism subgroup [aPR 2.1 (1.44–3.16)]. Adolescents with either a DD or obesity had higher prevalences of common respiratory, gastrointestinal, dermatological and neurological conditions/symptoms than nonobese adolescents without DDs. Adolescents with both DDs and obesity had the highest estimates for most conditions. Obesity is high among adolescents with autism and other DDs and poses added chronic health risks. Obesity prevention and management approaches for this vulnerable population subgroup need further consideration. PMID:24553796

  16. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    ... Español (Spanish) Recommend on Facebook Tweet Share Compartir Autism spectrum disorder (ASD) is a developmental disability that can cause ... work. Autism: What's New MMWR article: Prevalence of Autism Spectrum Disorder Data Community Report Press release: Autism Prevalence Slightly ...

  17. Replicating animal mitochondrial DNA

    Directory of Open Access Journals (Sweden)

    Emily A. McKinney

    2013-01-01

    Full Text Available The field of mitochondrial DNA (mtDNA replication has been experiencing incredible progress in recent years, and yet little is certain about the mechanism(s used by animal cells to replicate this plasmid-like genome. The long-standing strand-displacement model of mammalian mtDNA replication (for which single-stranded DNA intermediates are a hallmark has been intensively challenged by a new set of data, which suggests that replication proceeds via coupled leading-and lagging-strand synthesis (resembling bacterial genome replication and/or via long stretches of RNA intermediates laid on the mtDNA lagging-strand (the so called RITOLS. The set of proteins required for mtDNA replication is small and includes the catalytic and accessory subunits of DNA polymerase y, the mtDNA helicase Twinkle, the mitochondrial single-stranded DNA-binding protein, and the mitochondrial RNA polymerase (which most likely functions as the mtDNA primase. Mutations in the genes coding for the first three proteins are associated with human diseases and premature aging, justifying the research interest in the genetic, biochemical and structural properties of the mtDNA replication machinery. Here we summarize these properties and discuss the current models of mtDNA replication in animal cells.

  18. Who Needs Replication?

    Science.gov (United States)

    Porte, Graeme

    2013-01-01

    In this paper, the editor of a recent Cambridge University Press book on research methods discusses replicating previous key studies to throw more light on their reliability and generalizability. Replication research is presented as an accepted method of validating previous research by providing comparability between the original and replicated…

  19. Social maturity and theory of mind in typically developing children and those on the autism spectrum.

    Science.gov (United States)

    Peterson, Candida C; Slaughter, Virginia P; Paynter, Jessica

    2007-12-01

    Results of several studies using the Vineland scale to explore links between social behavior and theory of mind (ToM) have produced mixed results, especially for children on the autism spectrum. The present pair of studies developed a psychometrically sound, age-referenced measure of social maturity to explore these issues further. In Study 1, 37 typically developing preschoolers took a battery of standard false belief tests of ToM and were rated by their teachers on a newly developed age-referenced social maturity scale with 7 items. In Study 2, a further group of 43 children aged 4 to 12 years (13 with autism, 14 with Asperger's disorder and 16 with typical development) took part in the same procedure. In Study 1, ToM was found to predict typical preschoolers' social maturity independently of age and verbal maturity. In Study 2, children with autism scored below age-matched and younger typical developers in both ToM and social maturity. Those with Asperger's disorder did well on ToM but poorly on social maturity. Study 2 replicated Study 1's finding (for typical children and for the full sample) that ToM was linked with social maturity independently of age and verbal ability, although the link was not independent of autism diagnosis. Teachers are capable of rating children's social behavior with peers as advanced, on-time or delayed for their age. Suggestive links between these ratings and ToM require further investigation, especially among children on the autism spectrum.

  20. Identifying High Ability Children with DSM-5 Autism Spectrum or Social Communication Disorder: Performance on Autism Diagnostic Instruments.

    Science.gov (United States)

    Foley-Nicpon, Megan; L Fosenburg, Staci; G Wurster, Kristin; Assouline, Susan G

    2017-02-01

    This study was a replication of Mazefsky et al.'s (Journal of Autism and Developmental Disabilities 43:1236-1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine whether participants would meet either diagnosis under DSM-5. If the ADOS were administered alone, 62% of individuals diagnosed with ASD would no longer meet criteria under DSM-5; however, when the ADI-R and ADOS scores were combined, 100% of individuals would continue to meet ASD diagnosis. The ADOS was determined to be an insufficient measure for SCD due to the small number of algorithm items measuring SCD diagnostic criteria, suggesting the development of SCD measures is required.

  1. Quantifying social development in autism.

    Science.gov (United States)

    Volkmar, F R; Carter, A; Sparrow, S S; Cicchetti, D V

    1993-05-01

    This study was concerned with the development of quantitative measures of social development in autism. Multiple regression equations predicting social, communicative, and daily living skills on the Vineland Adaptive Behavior Scales were derived from a large, normative sample and applied to groups of autistic and nonautistic, developmentally disordered children. Predictive models included either mental or chronological age and other relevant variables. Social skills in the autistic group were more than two standard deviations below those predicted by their mental age; an index derived from the ratio of actual to predicted social skills correctly classified 94% of the autistic and 92% of the nonautistic, developmentally disordered cases. The findings are consistent with the idea that social disturbance is central in the definition of autism. The approach used in this study has potential advantages for providing more precise measures of social development in autism.

  2. Registered Replication Report

    DEFF Research Database (Denmark)

    Bouwmeester, S.; Verkoeijen, P. P.J.L.; Aczel, B.

    2017-01-01

    and colleagues. The results of studies using time pressure have been mixed, with some replication attempts observing similar patterns (e.g., Rand et al., 2014) and others observing null effects (e.g., Tinghög et al., 2013; Verkoeijen & Bouwmeester, 2014). This Registered Replication Report (RRR) assessed...... the size and variability of the effect of time pressure on cooperative decisions by combining 21 separate, preregistered replications of the critical conditions from Study 7 of the original article (Rand et al., 2012). The primary planned analysis used data from all participants who were randomly assigned...

  3. The replication recipe : What makes for a convincing replication?

    NARCIS (Netherlands)

    Brandt, M.J.; IJzerman, H.; Dijksterhuis, Ap; Farach, Frank J.; Geller, Jason; Giner-Sorolla, Roger; Grange, James A.; Perugini, Marco; Spies, Jeffrey R.; van 't Veer, Anna

    Psychological scientists have recently started to reconsider the importance of close replications in building a cumulative knowledge base; however, there is no consensus about what constitutes a convincing close replication study. To facilitate convincing close replication attempts we have developed

  4. The Replication Recipe: What makes for a convincing replication?

    NARCIS (Netherlands)

    Brandt, M.J.; IJzerman, H.; Dijksterhuis, A.J.; Farach, F.J.; Geller, J.; Giner-Sorolla, R.; Grange, J.A.; Perugini, M.; Spies, J.R.; Veer, A. van 't

    2014-01-01

    Psychological scientists have recently started to reconsider the importance of close replications in building a cumulative knowledge base; however, there is no consensus about what constitutes a convincing close replication study. To facilitate convincing close replication attempts we have developed

  5. Common DNA methylation alterations in multiple brain regions in autism.

    Science.gov (United States)

    Ladd-Acosta, C; Hansen, K D; Briem, E; Fallin, M D; Kaufmann, W E; Feinberg, A P

    2014-08-01

    Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders defined clinically by a triad of features including impairment in social interaction, impairment in communication in social situations and restricted and repetitive patterns of behavior and interests, with considerable phenotypic heterogeneity among individuals. Although heritability estimates for ASD are high, conventional genetic-based efforts to identify genes involved in ASD have yielded only few reproducible candidate genes that account for only a small proportion of ASDs. There is mounting evidence to suggest environmental and epigenetic factors play a stronger role in the etiology of ASD than previously thought. To begin to understand the contribution of epigenetics to ASD, we have examined DNA methylation (DNAm) in a pilot study of postmortem brain tissue from 19 autism cases and 21 unrelated controls, among three brain regions including dorsolateral prefrontal cortex, temporal cortex and cerebellum. We measured over 485,000 CpG loci across a diverse set of functionally relevant genomic regions using the Infinium HumanMethylation450 BeadChip and identified four genome-wide significant differentially methylated regions (DMRs) using a bump hunting approach and a permutation-based multiple testing correction method. We replicated 3/4 DMRs identified in our genome-wide screen in a different set of samples and across different brain regions. The DMRs identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.

  6. Eukaryotic DNA Replication Fork.

    Science.gov (United States)

    Burgers, Peter M J; Kunkel, Thomas A

    2017-06-20

    This review focuses on the biogenesis and composition of the eukaryotic DNA replication fork, with an emphasis on the enzymes that synthesize DNA and repair discontinuities on the lagging strand of the replication fork. Physical and genetic methodologies aimed at understanding these processes are discussed. The preponderance of evidence supports a model in which DNA polymerase ε (Pol ε) carries out the bulk of leading strand DNA synthesis at an undisturbed replication fork. DNA polymerases α and δ carry out the initiation of Okazaki fragment synthesis and its elongation and maturation, respectively. This review also discusses alternative proposals, including cellular processes during which alternative forks may be utilized, and new biochemical studies with purified proteins that are aimed at reconstituting leading and lagging strand DNA synthesis separately and as an integrated replication fork.

  7. Modeling DNA Replication.

    Science.gov (United States)

    Bennett, Joan

    1998-01-01

    Recommends the use of a model of DNA made out of Velcro to help students visualize the steps of DNA replication. Includes a materials list, construction directions, and details of the demonstration using the model parts. (DDR)

  8. Chromatin Immunoprecipitation of Replication Factors Moving with the Replication Fork

    OpenAIRE

    Rapp, Jordan B.; Ansbach, Alison B.; Noguchi, Chiaki; Noguchi, Eishi

    2009-01-01

    Replication of chromosomes involves a variety of replication proteins including DNA polymerases, DNA helicases, and other accessory factors. Many of these proteins are known to localize at replication forks and travel with them as components of the replisome complex. Other proteins do not move with replication forks but still play an essential role in DNA replication. Therefore, in order to understand the mechanisms of DNA replication and its controls, it is important to examine localization ...

  9. Anxiety Symptoms in Young People with Autism Spectrum Disorder Attending Special Schools: Associations with Gender, Adaptive Functioning and Autism Symptomatology

    Science.gov (United States)

    Magiati, Iliana; Ong, Clarissa; Lim, Xin Yi; Tan, Julianne Wen-Li; Ong, Amily Yi Lin; Patrycia, Ferninda; Fung, Daniel Shuen Sheng; Sung, Min; Poon, Kenneth K.; Howlin, Patricia

    2016-01-01

    Anxiety-related problems are among the most frequently reported mental health difficulties in autism spectrum disorder. As most research has focused on clinical samples or high-functioning children with autism spectrum disorder, less is known about the factors associated with anxiety in community samples across the ability range. This…

  10. Executive dysfunction in high functioning autism

    OpenAIRE

    Burnett, Hollie

    2017-01-01

    Background: There is presently a lack of consistency in research designed to measure executive functioning (EF) in autism that may be attributable to lack of homogeneity or comorbid conditions (i.e. learning disability or additional diagnosis) in test samples. Aim: A systematic review focused on a subset of EF (verbal fluency: VF) was conducted, using only studies of high-functioning individuals with autism (HFA) without an additional diagnosis or learning disability. An emp...

  11. Chromosomal abnormalities and autism

    African Journals Online (AJOL)

    Farida El-Baz

    2015-06-19

    Jun 19, 2015 ... Abstract Background: Autism is a neurodevelopmental disorder characterized by clinical, etio- logic and ... twin and family studies provide evidence for strong genetic ..... adolescents rats: relevant to autism spectrum disorders.

  12. Diagnosis of autism

    OpenAIRE

    Baird, Gillian; Cass, Hilary; Slonims, Vicky

    2003-01-01

    Parents want autism to be diagnosed as early as possible, and early intervention may improve long term outcomes. The authors of this review discuss the identification and assessment process for children with autism and autistic spectrum disorder

  13. Configuring the autism epidemic

    DEFF Research Database (Denmark)

    Seeberg, Jens; Christensen, Fie Lund Lindegaard

    2017-01-01

    Autism has been described as an epidemic, but this claim is contested and may point to an awareness epidemic, i.e. changes in the definition of what autism is and more attention being invested in diagnosis leading to a rise in registered cases. The sex ratio of children diagnosed with autism...... is skewed in favour of boys, and girls with autism tend to be diagnosed much later than boys. Building and further developing the notion of ‘configuration’ of epidemics, this article explores the configuration of autism in Denmark, with a particular focus on the health system and social support to families...... with children diagnosed with autism, seen from a parental perspective. The article points to diagnostic dynamics that contribute to explaining why girls with autism are not diagnosed as easily as boys. We unfold these dynamics through the analysis of a case of a Danish family with autism....

  14. Kids' Quest: Autism

    Science.gov (United States)

    ... I Have Information For… Parents / Educators What is autism and how do I recognize a kid who might be diagnosed as having an autism spectrum disorder? Recommend on Facebook Tweet Share Compartir ...

  15. Autism Spectrum Disorder

    Science.gov (United States)

    ... Caregiver Education » Fact Sheets Autism Spectrum Disorder Fact Sheet What is autism spectrum disorder? What are some ... of mutations in individual genes but rather spontaneous coding mutations across many genes. De novo mutations may ...

  16. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    ... within the category. These were autistic disorder ("classic" autism), Asperger syndrome (which usually involved milder symptoms, mostly related ... but not all, of the features of classic autism or Asperger syndrome). 2 Health care providers no longer use ...

  17. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

    NARCIS (Netherlands)

    Curran, S.; Bolton, P.; Rozsnyai, K.; Chiocchetti, A.; Klauck, S.M.; Duketis, E.; Poustka, F.; Schlitt, S.; Freitag, C.M.; Lee, I. van der; Muglia, P.; Poot, M.; Staal, W.G.; Jonge, M.V. de; Ophoff, R.A.; Lewis, C.; Skuse, D.; Mandy, W.; Vassos, E.; Fossdal, R.; Magnusson, P.; Hreidarsson, S.; Saemundsen, E.; Stefansson, H.; Stefansson, K.; Collier, D.

    2011-01-01

    The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case-control

  18. Prevalence of Autism Spectrum Disorder in Nurseries in Lebanon: A Cross Sectional Study

    Science.gov (United States)

    Chaaya, Monique; Saab, Dahlia; Maalouf, Fadi T.; Boustany, Rose-Mary

    2016-01-01

    In Lebanon, no estimate for autism prevalence exists. This cross-sectional study examines the prevalence of Autism spectrum disorder (ASD) in toddlers in nurseries in Beirut and Mount-Lebanon. The final sample included 998 toddlers (16-48 months) from 177 nurseries. We sent parents the Modified Checklist for Autism in Toddlers (M-CHAT) for…

  19. Voices of Young Adults with Autism and Their Perspective on Life Choices after Secondary Education

    Science.gov (United States)

    Galler, Susan

    2013-01-01

    The purpose of this phenomenological qualitative research study was to explore how young adults who have an autism spectrum disorder perceive their life choices after secondary education. The focus participants in the sample were young adults with Autism Spectrum Disorder (ASD). For the purpose of this research, ASD includes autism and Asperger's…

  20. Modeling the Phenotypic Architecture of Autism Symptoms from Time of Diagnosis to Age 6

    Science.gov (United States)

    Georgiades, Stelios; Boyle, Michael; Szatmari, Peter; Hanna, Steven; Duku, Eric; Zwaigenbaum, Lonnie; Bryson, Susan; Fombonne, Eric; Volden, Joanne; Mirenda, Pat; Smith, Isabel; Roberts, Wendy; Vaillancourt, Tracy; Waddell, Charlotte; Bennett, Teresa; Elsabbagh, Mayada; Thompson, Ann

    2014-01-01

    The latent class structure of autism symptoms from the time of diagnosis to age 6 years was examined in a sample of 280 children with autism spectrum disorder. Factor mixture modeling was performed on 26 algorithm items from the Autism Diagnostic Interview-Revised at diagnosis (Time 1) and again at age 6 (Time 2). At Time 1, a…

  1. Disparities in Diagnoses Received Prior to a Diagnosis of Autism Spectrum Disorder

    Science.gov (United States)

    Mandell, David S.; Ittenbach, Richard F.; Levy, Susan E.; Pinto-Martin, Jennifer A.

    2007-01-01

    This study estimated differences by ethnicity in the diagnoses assigned prior to the diagnosis of autism. In this sample of 406 Medicaid-eligible children, African-Americans were 2.6 times less likely than white children to receive an autism diagnosis on their first specialty care visit. Among children who did not receive an autism diagnosis on…

  2. Brief Report: Platelet-Poor Plasma Serotonin in Autism

    Science.gov (United States)

    Anderson, George M.; Hertzig, Margaret E.; McBride, P. A.

    2012-01-01

    Possible explanations for the well-replicated platelet hyperserotonemia of autism include an alteration in the platelet's handling of serotonin (5-hydroxyserotonin, 5-HT) or an increased exposure of the platelet to 5-HT. Measurement of platelet-poor plasma (PPP) levels of 5-HT appears to provide the best available index of in vivo exposure of the…

  3. Evidence for Latent Classes of IQ In Young Children with Autism Spectrum Disorder

    OpenAIRE

    Munson, Jeffrey; Dawson, Geraldine; Sterling, Lindsey; Beauchaine, Theodore; Zhou, Andrew; Koehler, Elizabeth; Lord, Catherine; Rogers, Sally; Sigman, Marian; Estes, Annette; Abbott, Robert

    2008-01-01

    Autism is currently viewed as a spectrum condition including strikingly different severity levels. IQ is consistently described as one of the primary aspects of the heterogeneity in autism. To investigate the possibility of more than one distinct subtype of autism based on IQ, both latent class analysis and taxometric methods were used to classify Mullen IQ scores in a sample of children with autism spectrum disorder (N=456). Evidence for multiple IQ-based subgroups was found using both metho...

  4. Roses for Autism

    Science.gov (United States)

    Tomaino, Robert

    2011-01-01

    This article discusses Roses for Autism, a program that provides training, guidance and employment opportunities for older students and adults on the autistic spectrum. Roses for Autism tackles one of the biggest challenges currently facing the autism community--a disproportionally high unemployment rate that hovers around 88 percent. Although a…

  5. Genetically meaningful phenotypic subgroups in autism spectrum disorders.

    Science.gov (United States)

    Veatch, O J; Veenstra-Vanderweele, J; Potter, M; Pericak-Vance, M A; Haines, J L

    2014-03-01

    Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong evidence for genetic susceptibility. However, the effect sizes for implicated chromosomal loci are small, hard to replicate and current evidence does not explain the majority of the estimated heritability. Phenotypic heterogeneity could be one phenomenon complicating identification of genetic factors. We used data from the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, Vineland Adaptive Behavior Scales, head circumferences, and ages at exams as classifying variables to identify more clinically similar subgroups of individuals with ASD. We identified two distinct subgroups of cases within the Autism Genetic Resource Exchange dataset, primarily defined by the overall severity of evaluated traits. In addition, there was significant familial clustering within subgroups (odds ratio, OR ≈ 1.38-1.42, P definition that should increase power to detect genetic factors influencing risk for ASD. © 2013 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  6. Evolution of Replication Machines

    Science.gov (United States)

    Yao, Nina Y.; O'Donnell, Mike E.

    2016-01-01

    The machines that decode and regulate genetic information require the translation, transcription and replication pathways essential to all living cells. Thus, it might be expected that all cells share the same basic machinery for these pathways that were inherited from the primordial ancestor cell from which they evolved. A clear example of this is found in the translation machinery that converts RNA sequence to protein. The translation process requires numerous structural and catalytic RNAs and proteins, the central factors of which are homologous in all three domains of life, bacteria, archaea and eukarya. Likewise, the central actor in transcription, RNA polymerase, shows homology among the catalytic subunits in bacteria, archaea and eukarya. In contrast, while some “gears” of the genome replication machinery are homologous in all domains of life, most components of the replication machine appear to be unrelated between bacteria and those of archaea and eukarya. This review will compare and contrast the central proteins of the “replisome” machines that duplicate DNA in bacteria, archaea and eukarya, with an eye to understanding the issues surrounding the evolution of the DNA replication apparatus. PMID:27160337

  7. Replication studies in longevity

    DEFF Research Database (Denmark)

    Varcasia, O; Garasto, S; Rizza, T

    2001-01-01

    In Danes we replicated the 3'APOB-VNTR gene/longevity association study previously carried out in Italians, by which the Small alleles (less than 35 repeats) had been identified as frailty alleles for longevity. In Danes, neither genotype nor allele frequencies differed between centenarians and 20...

  8. Cortical Changes Across the Autism Lifespan.

    Science.gov (United States)

    Osipowicz, Karol; Bosenbark, Danielle D; Patrick, Kristina E

    2015-08-01

    Although it is widely accepted that autism spectrum disorder (ASD) involves neuroanatomical abnormalities and atypical neurodevelopmental patterns, there is little consensus regarding the precise pattern of neuroanatomical differences or how these differences relate to autism symptomology. Furthermore, there is limited research related to neuroanatomical correlates of autism symptomology in individuals with ASD and the studies that do exist primarily include small samples. This study was the first to investigate gray matter (GM) changes throughout the ASD lifespan, using voxel-based morphometry to determine whether significant differences exist in the GM volumes of a large sample of individuals with ASD compared to age- and IQ-matched typical controls. We examined GM volume across the lifespan in 531 individuals diagnosed with ASD and 571 neurotypical controls, aged 7-64. We compared groups and correlated GM with age and autism severity in the ASD group. Findings suggest bilateral decreased GM volume for individuals with ASD in regions extending from the thalamus to the cerebellum, anterior medial temporal lobes, and orbitofrontal regions. Higher autism severity was associated with decreased GM volumes in prefrontal cortex, inferior parietal and temporal regions, and temporal poles. Similar relationships were found between GM volume and age. ASD diagnosis and severity were not associated with increased GM volumes in any region. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

  9. Expressive drawing ability in children with autism.

    Science.gov (United States)

    Jolley, Richard P; O'Kelly, Rachael; Barlow, Claire M; Jarrold, Christopher

    2013-03-01

    The autistic impairments in emotional and social competence, imagination and generating ideas predict qualitative differences in expressive drawings by children with autism beyond that accounted by any general learning difficulties. In a sample of 60 5-19-year-olds, happy and sad drawings were requested from 15 participants with non-savant autism and compared with those drawn by three control groups matched on either degree of learning difficulty (MLD), mental age (MA) or chronological age (CA). All drawings were rated by two artists on a 7-point quality of expression scale. Contrary to our predictions, the drawings from the autistic group were rated similar to those of the MA and MLD groups. Analysis of the people and social content of the drawings revealed that although children with autism did not draw fewer people, they did draw more immature forms than mental age controls. Furthermore, there was tentative evidence that fewer social scenes were produced by the autism sample. We conclude that the overall merit of expressive drawing in autism is commensurate with their general learning difficulties, but the social/emotional impairment in autism affects their drawings of people and social scenes. © 2013 The British Psychological Society.

  10. Sensory perception in autism.

    Science.gov (United States)

    Robertson, Caroline E; Baron-Cohen, Simon

    2017-11-01

    Autism is a complex neurodevelopmental condition, and little is known about its neurobiology. Much of autism research has focused on the social, communication and cognitive difficulties associated with the condition. However, the recent revision of the diagnostic criteria for autism has brought another key domain of autistic experience into focus: sensory processing. Here, we review the properties of sensory processing in autism and discuss recent computational and neurobiological insights arising from attention to these behaviours. We argue that sensory traits have important implications for the development of animal and computational models of the condition. Finally, we consider how difficulties in sensory processing may relate to the other domains of behaviour that characterize autism.

  11. Abnormal Size-Dependent Modulation of Motion Perception in Children with Autism Spectrum Disorder (ASD).

    Science.gov (United States)

    Sysoeva, Olga V; Galuta, Ilia A; Davletshina, Maria S; Orekhova, Elena V; Stroganova, Tatiana A

    2017-01-01

    Excitation/Inhibition (E/I) imbalance in neural networks is now considered among the core neural underpinnings of autism psychopathology. In motion perception at least two phenomena critically depend on E/I balance in visual cortex: spatial suppression (SS), and spatial facilitation (SF) corresponding to impoverished or improved motion perception with increasing stimuli size, respectively. While SS is dominant at high contrast, SF is evident for low contrast stimuli, due to the prevalence of inhibitory contextual modulations in the former, and excitatory ones in the latter case. Only one previous study (Foss-Feig et al., 2013) investigated SS and SF in Autism Spectrum Disorder (ASD). Our study aimed to replicate previous findings, and to explore the putative contribution of deficient inhibitory influences into an enhanced SF index in ASD-a cornerstone for interpretation proposed by Foss-Feig et al. (2013). The SS and SF were examined in 40 boys with ASD, broad spectrum of intellectual abilities (63 ASD. The presence of abnormally enhanced SF in children with ASD was the only consistent finding between our study and that of Foss-Feig et al. While the SS and SF indexes were strongly interrelated in TD participants, this correlation was absent in their peers with ASD. In addition, the SF index but not the SS index correlated with the severity of autism and the poor registration abilities. The pattern of results is partially consistent with the idea of hypofunctional inhibitory transmission in visual areas in ASD. Nonetheless, the absence of correlation between SF and SS indexes paired with a strong direct link between abnormally enhanced SF and autism symptoms in our ASD sample emphasizes the role of the enhanced excitatory influences by themselves in the observed abnormalities in low-level visual phenomena found in ASD.

  12. Autism Developmental Profiles and Cooperation with Oral Health Screening

    Science.gov (United States)

    Du, Rennan Y.; Yiu, Cynthia C. Y.; Wong, Virginia C. N.; McGrath, Colman P.

    2015-01-01

    To determine the associations between autism developmental profiles and cooperation with an oral health screening among preschool children with autism spectrum disorders (ASDs). A random sample of Special Child Care Centres registered with the Government Social Welfare Department in Hong Kong was selected (19 out of 37 Centres). All preschool…

  13. Brief Report: Circumscribed Attention in Young Children with Autism

    Science.gov (United States)

    Sasson, Noah J.; Elison, Jed T.; Turner-Brown, Lauren M.; Dichter, Gabriel S.; Bodfish, James W.

    2011-01-01

    School-aged children and adolescents with autism demonstrate circumscribed attentional patterns to nonsocial aspects of complex visual arrays (Sasson et al. "2008"). The current study downward extended these findings to a sample of 2-5 year-olds with autism and 2-5 year-old typically developing children. Eye-tracking was used to quantify discrete…

  14. Explicit versus Implicit Social Cognition Testing in Autism Spectrum Disorder

    Science.gov (United States)

    Callenmark, Björn; Kjellin, Lars; Rönnqvist, Louise; Bölte, Sven

    2014-01-01

    Although autism spectrum disorder is defined by reciprocal social-communication impairments, several studies have found no evidence for altered social cognition test performance. This study examined explicit (i.e. prompted) and implicit (i.e. spontaneous) variants of social cognition testing in autism spectrum disorder. A sample of 19 adolescents…

  15. Bullying-related behaviour in adolescents with autism: Links with autism severity and emotional and behavioural problems

    NARCIS (Netherlands)

    Fink, Elian; Olthof, Tjeert; Goossens, Frits; van der Meijden, Sandra; Begeer, Sander

    2017-01-01

    This study examined the association between peer-reported bullying-related behaviours (bully, victim, outsider and defender), age, gender, autism severity and teacher-rated emotional and behavioural problems in adolescents with autism spectrum disorder, using a multi-informant approach. The sample

  16. The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians.

    Science.gov (United States)

    Baron-Cohen, S; Wheelwright, S; Skinner, R; Martin, J; Clubley, E

    2001-02-01

    Currently there are no brief, self-administered instruments for measuring the degree to which an adult with normal intelligence has the traits associated with the autistic spectrum. In this paper, we report on a new instrument to assess this: the Autism-Spectrum Quotient (AQ). Individuals score in the range 0-50. Four groups of subjects were assessed: Group 1: 58 adults with Asperger syndrome (AS) or high-functioning autism (HFA); Group 2: 174 randomly selected controls. Group 3: 840 students in Cambridge University; and Group 4: 16 winners of the UK Mathematics Olympiad. The adults with AS/HFA had a mean AQ score of 35.8 (SD = 6.5), significantly higher than Group 2 controls (M = 16.4, SD = 6.3). 80% of the adults with AS/HFA scored 32+, versus 2% of controls. Among the controls, men scored slightly but significantly higher than women. No women scored extremely highly (AQ score 34+) whereas 4% of men did so. Twice as many men (40%) as women (21%) scored at intermediate levels (AQ score 20+). Among the AS/HFA group, male and female scores did not differ significantly. The students in Cambridge University did not differ from the randomly selected control group, but scientists (including mathematicians) scored significantly higher than both humanities and social sciences students, confirming an earlier study that autistic conditions are associated with scientific skills. Within the sciences, mathematicians scored highest. This was replicated in Group 4, the Mathematics Olympiad winners scoring significantly higher than the male Cambridge humanities students. 6% of the student sample scored 32+ on the AQ. On interview, 11 out of 11 of these met three or more DSM-IV criteria for AS/HFA, and all were studying sciences/mathematics, and 7 of the 11 met threshold on these criteria. Test-retest and interrater reliability of the AQ was good. The AQ is thus a valuable instrument for rapidly quantifying where any given individual is situated on the continuum from autism to

  17. Second Version of Google Glass as a Wearable Socio-Affective Aid: Positive School Desirability, High Usability, and Theoretical Framework in a Sample of Children with Autism.

    Science.gov (United States)

    Sahin, Ned T; Keshav, Neha U; Salisbury, Joseph P; Vahabzadeh, Arshya

    2018-01-04

    Computerized smartglasses are being developed as an assistive technology for daily activities in children and adults with autism spectrum disorder (ASD). While smartglasses may be able to help with educational and behavioral needs, their usability and acceptability in children with ASD is largely unknown. There have been reports of negative social perceptions surrounding smartglasses use in mainstream populations, a concern given that assistive technologies may already carry their own stigma. Children with ASD may also have a range of additional behavioral, developmental, and social challenges when asked to use this emerging technology in school and home settings. The usability and acceptability of Glass Enterprise Edition (Glass), the successor to Google Glass smartglasses, were explored in children with ASD and their caregivers. Eight children with ASD and their caregivers were recruited to attend a demonstration session with Glass smartglasses the week they were publicly released. The children had a wide range of ability, including limited speech to speaking, and represented a full range of school ages (6 to 17 years). Children and caregivers were interviewed about their experience of using the smartglasses and whether they would use them at school and home. All 8 children succeeded in using Glass and did not feel stressed (8/8, 100%) or experience any overwhelming sensory or emotional issues during the session (8/8, 100%). All 8 children (8/8, 100%) endorsed that they would be willing to wear and use the device in both home and school settings. Caregivers felt the experience was fun for the children (8/8, 100%), and most caregivers felt the experience was better than they had expected (6/8, 75%). A wide age and ability range of children with ASD used Glass immediately after it was released and found it to be usable and acceptable. Despite concerns about potential stigma or social acceptability, all of the children were prepared to use the technology in both

  18. Replication and robustness in developmental research.

    Science.gov (United States)

    Duncan, Greg J; Engel, Mimi; Claessens, Amy; Dowsett, Chantelle J

    2014-11-01

    Replications and robustness checks are key elements of the scientific method and a staple in many disciplines. However, leading journals in developmental psychology rarely include explicit replications of prior research conducted by different investigators, and few require authors to establish in their articles or online appendices that their key results are robust across estimation methods, data sets, and demographic subgroups. This article makes the case for prioritizing both explicit replications and, especially, within-study robustness checks in developmental psychology. It provides evidence on variation in effect sizes in developmental studies and documents strikingly different replication and robustness-checking practices in a sample of journals in developmental psychology and a sister behavioral science-applied economics. Our goal is not to show that any one behavioral science has a monopoly on best practices, but rather to show how journals from a related discipline address vital concerns of replication and generalizability shared by all social and behavioral sciences. We provide recommendations for promoting graduate training in replication and robustness-checking methods and for editorial policies that encourage these practices. Although some of our recommendations may shift the form and substance of developmental research articles, we argue that they would generate considerable scientific benefits for the field. (PsycINFO Database Record (c) 2014 APA, all rights reserved).

  19. Brief Report: Checklist for Autism Spectrum Disorder--Most Discriminating Items for Diagnosing Autism

    Science.gov (United States)

    Mayes, Susan D.

    2018-01-01

    The smallest subset of items from the 30-item Checklist for Autism Spectrum Disorder (CASD) that differentiated 607 referred children (3-17 years) with and without autism with 100% accuracy was identified. This 6-item subset (CASD-Short Form) was cross-validated on an independent sample of 397 referred children (1-18 years) with and without autism…

  20. The French Version of the Modified-Checklist for Autism in Toddlers (M-CHAT): A Validation Study on a French Sample of 24 Month-Old Children

    Science.gov (United States)

    Baduel, Sophie; Guillon, Quentin; Afzali, Mohammad H.; Foudon, Nadège; Kruck, Jeanne; Rogé, Bernadette

    2017-01-01

    Early ASD screening has the potential to reduce delays between initial parental concerns and diagnosis, and promote early intervention. The aim of this study was to validate the M-CHAT on a French population sample of 24 month-old children. This study included a low-risk sample of 1,227 children. A total of 20 children screened positive on the…

  1. Autism spectrum disorder - Asperger syndrome

    Science.gov (United States)

    ... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... VA: American Psychiatric Publishing: 2013;50-59. Raviola GJ, ...

  2. Mechanisms of DNA replication termination.

    Science.gov (United States)

    Dewar, James M; Walter, Johannes C

    2017-08-01

    Genome duplication is carried out by pairs of replication forks that assemble at origins of replication and then move in opposite directions. DNA replication ends when converging replication forks meet. During this process, which is known as replication termination, DNA synthesis is completed, the replication machinery is disassembled and daughter molecules are resolved. In this Review, we outline the steps that are likely to be common to replication termination in most organisms, namely, fork convergence, synthesis completion, replisome disassembly and decatenation. We briefly review the mechanism of termination in the bacterium Escherichia coli and in simian virus 40 (SV40) and also focus on recent advances in eukaryotic replication termination. In particular, we discuss the recently discovered E3 ubiquitin ligases that control replisome disassembly in yeast and higher eukaryotes, and how their activity is regulated to avoid genome instability.

  3. Influence of children's formed beliefs about characheristic of autism on acceptance of peers with autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Čolić Marija

    2015-01-01

    Full Text Available The aim of this study was to determine the influence of formed beliefs about autism of students in fourth and seventh grade of primary school on acceptance of peers with autism. Belief about autism was formed using the vignettes which were constructed with the aim to explain autism as a disorder in communication, socialization and restrictive/repetitive interests. After the students read a vignette they were expected to fill out The Shared Activities Questionnaire. The mean scores indicate moderate positive behavioral intentions within three domains (Social, Academic and Recreational. The students rather participated in activities within the social domain than in academic and recreational domains. The girls expressed more positive behavioral intention within all three domains towards a peer with autism than the boys. The boys were more willing to participate in activities with a peer with autism when they were told that autism is a disorder in socialization. Although our sample on the whole reported moderate positive attitude towards peers with autism, when isolated items are observed, it is clear that one third of the students would not participate in certain activities with a peer with autism, which indicates the necessity for intervention in order to create a more positive attitude.

  4. Chromatin replication and epigenome maintenance

    DEFF Research Database (Denmark)

    Alabert, Constance; Groth, Anja

    2012-01-01

    Stability and function of eukaryotic genomes are closely linked to chromatin structure and organization. During cell division the entire genome must be accurately replicated and the chromatin landscape reproduced on new DNA. Chromatin and nuclear structure influence where and when DNA replication...... initiates, whereas the replication process itself disrupts chromatin and challenges established patterns of genome regulation. Specialized replication-coupled mechanisms assemble new DNA into chromatin, but epigenome maintenance is a continuous process taking place throughout the cell cycle. If DNA...

  5. Replication Research and Special Education

    Science.gov (United States)

    Travers, Jason C.; Cook, Bryan G.; Therrien, William J.; Coyne, Michael D.

    2016-01-01

    Replicating previously reported empirical research is a necessary aspect of an evidence-based field of special education, but little formal investigation into the prevalence of replication research in the special education research literature has been conducted. Various factors may explain the lack of attention to replication of special education…

  6. Experimental toxicology: Issues of statistics, experimental design, and replication.

    Science.gov (United States)

    Briner, Wayne; Kirwan, Jeral

    2017-01-01

    The difficulty of replicating experiments has drawn considerable attention. Issues with replication occur for a variety of reasons ranging from experimental design to laboratory errors to inappropriate statistical analysis. Here we review a variety of guidelines for statistical analysis, design, and execution of experiments in toxicology. In general, replication can be improved by using hypothesis driven experiments with adequate sample sizes, randomization, and blind data collection techniques. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. How Valid Is the Checklist for Autism Spectrum Disorder When a Child Has Apraxia of Speech?

    Science.gov (United States)

    Tierney, Cheryl; Mayes, Susan; Lohs, Sally R; Black, Amanda; Gisin, Eugenia; Veglia, Megan

    2015-10-01

    Our objective was to determine if the Checklist for Autism Spectrum Disorder (CASD) was inadvertently overemphasizing autism symptoms in a population of children without autism. Children noted with communication delays were referred to both a developmental pediatrician and a speech and language pathologist for an apraxia and autism evaluation. All children who underwent both autism and apraxia evaluations and met rule-in or rule-out criteria for both diagnoses were included in the study, resulting in a sample size of 30. Our results show that 63.6% of children initially diagnosed with autism also had apraxia, 36.8% of children initially diagnosed with apraxia also had autism, 23.3% had neither, and 23.3% had both. Overall diagnostic accuracy for the CASD was 96.7%. Overall accuracy for the CASD for children without apraxia was 100% and accuracy for children with apraxia was 94.7%. Specificity for the CASD was 100%, while sensitivity was 90.9%. The PPV was 100% and the NPV was 95.0%. This study demonstrates that the CASD does not overemphasize autism symptoms in a population of children without autism. It also shows that autism and apraxia are highly comorbid. Thus, it is important to monitor all children diagnosed with apraxia for signs of autism and all children diagnosed with autism for signs of apraxia. This will help identify children as early as possible and allow them access to services appropriate to their needs.

  8. Combination of atomic force microscopy and mass spectrometry for the detection of target protein in the serum samples of children with autism spectrum disorders

    Science.gov (United States)

    Kaysheva, A. L.; Pleshakova, T. O.; Kopylov, A. T.; Shumov, I. D.; Iourov, I. Y.; Vorsanova, S. G.; Yurov, Y. B.; Ziborov, V. S.; Archakov, A. I.; Ivanov, Y. D.

    2017-10-01

    Possibility of detection of target proteins associated with development of autistic disorders in children with use of combined atomic force microscopy and mass spectrometry (AFM/MS) method is demonstrated. The proposed method is based on the combination of affine enrichment of proteins from biological samples and visualization of these proteins by AFM and MS analysis with quantitative detection of target proteins.

  9. MECP2 promoter methylation and X chromosome inactivation in autism.

    Science.gov (United States)

    Nagarajan, Raman P; Patzel, Katherine A; Martin, Michelle; Yasui, Dag H; Swanberg, Susan E; Hertz-Picciotto, Irva; Hansen, Robin L; Van de Water, Judy; Pessah, Isaac N; Jiang, Ruby; Robinson, Wendy P; LaSalle, Janine M

    2008-06-01

    Epigenetic mechanisms have been proposed to play a role in the etiology of autism. This hypothesis is supported by the discovery of increased MECP2 promoter methylation associated with decreased MeCP2 protein expression in autism male brain. To further understand the influence of female X chromosome inactivation (XCI) and neighboring methylation patterns on aberrant MECP2 promoter methylation in autism, multiple methylation analyses were peformed on brain and blood samples from individuals with autism. Bisulfite sequencing analyses of a region 0.6 kb upstream of MECP2 in brain DNA samples revealed an abrupt transition from a highly methylated region in both sexes to a region unmethylated in males and subject to XCI in females. Chromatin immunoprecipitation analysis demonstrated that the CCTC-binding factor (CTCF) bound to this transition region in neuronal cells, consistent with a chromatin boundary at the methylation transition. Male autism brain DNA samples displayed a slight increase in methylation in this transition region, suggesting a possible aberrant spreading of methylation into the MECP2 promoter in autism males across this boundary element. In addition, autistic female brain DNA samples showed evidence for aberrant MECP2 promoter methylation as an increase in the number of bisulfite sequenced clones with undefined XCI status for MECP2 but not androgen receptor (AR). To further investigate the specificity of MECP2 methylation alterations in autism, blood DNA samples from females and mothers of males with autism were also examined for XCI skewing at AR, but no significant increase in XCI skewing was observed compared to controls. These results suggest that the aberrant MECP2 methylation in autism brain DNA samples is due to locus-specific rather than global X chromosome methylation changes.

  10. International Expansion through Flexible Replication

    DEFF Research Database (Denmark)

    Jonsson, Anna; Foss, Nicolai Juul

    2011-01-01

    Business organizations may expand internationally by replicating a part of their value chain, such as a sales and marketing format, in other countries. However, little is known regarding how such “international replicators” build a format for replication, or how they can adjust it in order to ada......, etc.) are replicated in a uniform manner across stores, and change only very slowly (if at all) in response to learning (“flexible replication”). We conclude by discussing the factors that influence the approach to replication adopted by an international replicator.......Business organizations may expand internationally by replicating a part of their value chain, such as a sales and marketing format, in other countries. However, little is known regarding how such “international replicators” build a format for replication, or how they can adjust it in order to adapt...

  11. Effectiveness of a Phonological Awareness Training Intervention on Word Recognition Ability of Children with Autism Spectrum Disorder

    Science.gov (United States)

    Mohammed, Adel Abdulla; Mostafa, Amaal Ahmed

    2012-01-01

    This study describes an action research project designed to improve word recognition ability of children with Autism Spectrum Disorder. A total of 47 children diagnosed as having Autism Spectrum Disorder using Autism Spectrum Disorder Evaluation Inventory (Mohammed, 2006), participated in this study. The sample was randomly divided into two…

  12. Modeling inhomogeneous DNA replication kinetics.

    Directory of Open Access Journals (Sweden)

    Michel G Gauthier

    Full Text Available In eukaryotic organisms, DNA replication is initiated at a series of chromosomal locations called origins, where replication forks are assembled proceeding bidirectionally to replicate the genome. The distribution and firing rate of these origins, in conjunction with the velocity at which forks progress, dictate the program of the replication process. Previous attempts at modeling DNA replication in eukaryotes have focused on cases where the firing rate and the velocity of replication forks are homogeneous, or uniform, across the genome. However, it is now known that there are large variations in origin activity along the genome and variations in fork velocities can also take place. Here, we generalize previous approaches to modeling replication, to allow for arbitrary spatial variation of initiation rates and fork velocities. We derive rate equations for left- and right-moving forks and for replication probability over time that can be solved numerically to obtain the mean-field replication program. This method accurately reproduces the results of DNA replication simulation. We also successfully adapted our approach to the inverse problem of fitting measurements of DNA replication performed on single DNA molecules. Since such measurements are performed on specified portion of the genome, the examined DNA molecules may be replicated by forks that originate either within the studied molecule or outside of it. This problem was solved by using an effective flux of incoming replication forks at the model boundaries to represent the origin activity outside the studied region. Using this approach, we show that reliable inferences can be made about the replication of specific portions of the genome even if the amount of data that can be obtained from single-molecule experiments is generally limited.

  13. The Idea Is Good, but…: Failure to Replicate Associations of Oxytocinergic Polymorphisms with Face-Inversion in the N170.

    Directory of Open Access Journals (Sweden)

    Aisha J L Munk

    Full Text Available In event-related potentials, the N170 manifests itself especially in reaction to faces. In the healthy population, face-inversion leads to stronger negative amplitudes and prolonged latencies of the N170, effects not being present in patients with autism-spectrum-disorder (ASD. ASD has frequently been associated with differences in oxytocinergic neurotransmission. This ERP-study aimed to investigate the face-inversion effect in association with oxytocinergic candidate genes. It was expected that risk-allele-carriers of the oxytocin-receptor-gene-polymorphism (rs53576 and of CD38 (rs379863 responded similar to upright and inverted faces as persons with ASD. Additionally, reactions to different facial emotional expressions were studied. As there have been difficulties with replications of those molecular genetic association studies, we aimed to replicate our findings in a second study.Seventy-two male subjects in the first-, and seventy-eight young male subjects in the replication-study conducted a face-inversion-paradigm, while recording EEG. DNA was extracted from buccal cells.Results revealed stronger N170-amplitudes and longer latencies in reaction to inverted faces in comparison to upright ones. Furthermore, effects of emotion on N170 were evident. Those effects were present in the first and in the second study. Whereas we found molecular-genetic associations of oxytocinergic polymorphisms with the N170 in the first study, we failed to do so in the replication sample.Results indicate that a deeper theoretical understanding of this research-field is needed, in order to generate possible explanations for these findings. Results, furthermore, support the hypotheses that success of reproducibility is correlated with strength of lower original p-values and larger effect sizes in the original study.

  14. SUMO and KSHV Replication

    Energy Technology Data Exchange (ETDEWEB)

    Chang, Pei-Ching [Institute of Microbiology and Immunology, National Yang-Ming University, Taipei 112, Taiwan (China); Kung, Hsing-Jien, E-mail: hkung@nhri.org.tw [Institute for Translational Medicine, College of Medical Science and Technology, Taipei Medical University, Taipei 110, Taiwan (China); Department of Biochemistry and Molecular Medicine, University of California, Davis, CA 95616 (United States); UC Davis Cancer Center, University of California, Davis, CA 95616 (United States); Division of Molecular and Genomic Medicine, National Health Research Institutes, 35 Keyan Road, Zhunan, Miaoli County 35053, Taiwan (China)

    2014-09-29

    Small Ubiquitin-related MOdifier (SUMO) modification was initially identified as a reversible post-translational modification that affects the regulation of diverse cellular processes, including signal transduction, protein trafficking, chromosome segregation, and DNA repair. Increasing evidence suggests that the SUMO system also plays an important role in regulating chromatin organization and transcription. It is thus not surprising that double-stranded DNA viruses, such as Kaposi’s sarcoma-associated herpesvirus (KSHV), have exploited SUMO modification as a means of modulating viral chromatin remodeling during the latent-lytic switch. In addition, SUMO regulation allows the disassembly and assembly of promyelocytic leukemia protein-nuclear bodies (PML-NBs), an intrinsic antiviral host defense, during the viral replication cycle. Overcoming PML-NB-mediated cellular intrinsic immunity is essential to allow the initial transcription and replication of the herpesvirus genome after de novo infection. As a consequence, KSHV has evolved a way as to produce multiple SUMO regulatory viral proteins to modulate the cellular SUMO environment in a dynamic way during its life cycle. Remarkably, KSHV encodes one gene product (K-bZIP) with SUMO-ligase activities and one gene product (K-Rta) that exhibits SUMO-targeting ubiquitin ligase (STUbL) activity. In addition, at least two viral products are sumoylated that have functional importance. Furthermore, sumoylation can be modulated by other viral gene products, such as the viral protein kinase Orf36. Interference with the sumoylation of specific viral targets represents a potential therapeutic strategy when treating KSHV, as well as other oncogenic herpesviruses. Here, we summarize the different ways KSHV exploits and manipulates the cellular SUMO system and explore the multi-faceted functions of SUMO during KSHV’s life cycle and pathogenesis.

  15. Use of Gilliam Asperger's disorder scale in differentiating high and low functioning autism and ADHD.

    Science.gov (United States)

    Mayes, Susan Dickerson; Calhoun, Susan L; Murray, Michael J; Morrow, Jill D; Yurich, Kirsten K L; Cothren, Shiyoko; Purichia, Heather; Bouder, James N

    2011-02-01

    Little is known about the validity of Gilliam Asperger's Disorder Scale (GADS), although it is widely used. This study of 199 children with high functioning autism or Asperger's disorder, 195 with low functioning autism, and 83 with attention deficit hyperactivity disorder (ADHD) showed high classification accuracy (autism vs. ADHD) for clinicians' GADS Quotients (92%), and somewhat lower accuracy (77%) for parents' Quotients. Both children with high and low functioning autism had clinicians' Quotients (M=99 and 101, respectively) similar to the Asperger's Disorder mean of 100 for the GADS normative sample. Children with high functioning autism scored significantly higher on the cognitive patterns subscale than children with low functioning autism, and the latter had higher scores on the remaining subscales: social interaction, restricted patterns of behavior, and pragmatic skills. Using the clinicians' Quotient and Cognitive Patterns score, 70% of children were correctly identified as having high or low functioning autism or ADHD.

  16. Addressing the "Replication Crisis": Using Original Studies to Design Replication Studies with Appropriate Statistical Power.

    Science.gov (United States)

    Anderson, Samantha F; Maxwell, Scott E

    2017-01-01

    Psychology is undergoing a replication crisis. The discussion surrounding this crisis has centered on mistrust of previous findings. Researchers planning replication studies often use the original study sample effect size as the basis for sample size planning. However, this strategy ignores uncertainty and publication bias in estimated effect sizes, resulting in overly optimistic calculations. A psychologist who intends to obtain power of .80 in the replication study, and performs calculations accordingly, may have an actual power lower than .80. We performed simulations to reveal the magnitude of the difference between actual and intended power based on common sample size planning strategies and assessed the performance of methods that aim to correct for effect size uncertainty and/or bias. Our results imply that even if original studies reflect actual phenomena and were conducted in the absence of questionable research practices, popular approaches to designing replication studies may result in a low success rate, especially if the original study is underpowered. Methods correcting for bias and/or uncertainty generally had higher actual power, but were not a panacea for an underpowered original study. Thus, it becomes imperative that 1) original studies are adequately powered and 2) replication studies are designed with methods that are more likely to yield the intended level of power.

  17. DNA Replication Profiling Using Deep Sequencing.

    Science.gov (United States)

    Saayman, Xanita; Ramos-Pérez, Cristina; Brown, Grant W

    2018-01-01

    Profiling of DNA replication during progression through S phase allows a quantitative snap-shot of replication origin usage and DNA replication fork progression. We present a method for using deep sequencing data to profile DNA replication in S. cerevisiae.

  18. Hydroxyurea-Induced Replication Stress

    Directory of Open Access Journals (Sweden)

    Kenza Lahkim Bennani-Belhaj

    2010-01-01

    Full Text Available Bloom's syndrome (BS displays one of the strongest known correlations between chromosomal instability and a high risk of cancer at an early age. BS cells combine a reduced average fork velocity with constitutive endogenous replication stress. However, the response of BS cells to replication stress induced by hydroxyurea (HU, which strongly slows the progression of replication forks, remains unclear due to publication of conflicting results. Using two different cellular models of BS, we showed that BLM deficiency is not associated with sensitivity to HU, in terms of clonogenic survival, DSB generation, and SCE induction. We suggest that surviving BLM-deficient cells are selected on the basis of their ability to deal with an endogenous replication stress induced by replication fork slowing, resulting in insensitivity to HU-induced replication stress.

  19. Autism Spectrum Disorders (ASD) and Diet

    Science.gov (United States)

    ... Conditions Autism Autism Spectrum Disorders (ASD) and Diet Autism Spectrum Disorders (ASD) and Diet By Karen Ansel, MS, RDN, CDN Published April 2, 2018 nambitomo/iStock/Thinkstock Autism Spectrum Disorder, or ASD, is a complex developmental and neurological ...

  20. Stereotypes of autism.

    Science.gov (United States)

    Draaisma, Douwe

    2009-05-27

    In their landmark papers, both Kanner and Asperger employed a series of case histories to shape clinical insight into autistic disorders. This way of introducing, assessing and representing disorders has disappeared from today's psychiatric practice, yet it offers a convincing model of the way stereotypes may build up as a result of representations of autism. Considering that much of what society at large learns on disorders on the autism spectrum is produced by representations of autism in novels, TV-series, movies or autobiographies, it will be of vital importance to scrutinize these representations and to check whether or not they are, in fact, misrepresenting autism. In quite a few cases, media representations of talent and special abilities can be said to have contributed to a harmful divergence between the general image of autism and the clinical reality of the autistic condition.

  1. DATABASE REPLICATION IN HETEROGENOUS PLATFORM

    OpenAIRE

    Hendro Nindito; Evaristus Didik Madyatmadja; Albert Verasius Dian Sano

    2014-01-01

    The application of diverse database technologies in enterprises today is increasingly a common practice. To provide high availability and survavibality of real-time information, a database replication technology that has capability to replicate databases under heterogenous platforms is required. The purpose of this research is to find the technology with such capability. In this research, the data source is stored in MSSQL database server running on Windows. The data will be replicated to MyS...

  2. Expressive Drawing Ability in Children with Autism

    Science.gov (United States)

    Jolley, Richard P.; O'Kelly, Rachael; Barlow, Claire M.; Jarrold, Christopher

    2013-01-01

    The autistic impairments in emotional and social competence, imagination and generating ideas predict qualitative differences in expressive drawings by children with autism beyond that accounted by any general learning difficulties. In a sample of 60 5-19-year-olds, happy and sad drawings were requested from 15 participants with non-savant autism…

  3. A possible role of the Infant/Toddler Sensory Profile in screening for autism: a proof-of-concept study in the specific sample of prematurely born children with birth weights <1,500 g

    Czech Academy of Sciences Publication Activity Database

    Beranová, Š.; Stoklasa, J.; Dudová, I.; Marková, D.; Kašparová, M.; Zemánková, J.; Urbánek, Tomáš; Talášek, T.; Luukka, P.; Hrdlička, M.

    2017-01-01

    Roč. 13, January (2017), s. 191-200 ISSN 1178-2021 Institutional support: RVO:68081740 Keywords : autism spectrum disorders * preterm children * screening * Modified Checklist for Autism in Toddlers * Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist * Infant/Toddler Sensory Profile Subject RIV: AN - Psychology OBOR OECD: Psychology (including human - machine relations) Impact factor: 2.198, year: 2016 https://www.dovepress.com/a-possible-role-of-the-infanttoddler-sensory-profile-in-screening-for--peer-reviewed-article-NDT

  4. Exploring sex differences in autistic traits: A factor analytic study of adults with autism.

    Science.gov (United States)

    Grove, Rachel; Hoekstra, Rosa A; Wierda, Marlies; Begeer, Sander

    2017-08-01

    Research has highlighted potential differences in the phenotypic and clinical presentation of autism spectrum conditions across sex. Furthermore, the measures utilised to evaluate autism spectrum conditions may be biased towards the male autism phenotype. It is important to determine whether these instruments measure the autism phenotype consistently in autistic men and women. This study evaluated the factor structure of the Autism Spectrum Quotient Short Form in a large sample of autistic adults. It also systematically explored specific sex differences at the item level, to determine whether the scale assesses the autism phenotype equivalently across males and females. Factor analyses were conducted among 265 males and 285 females. A two-factor structure consisting of a social behaviour and numbers and patterns factor was consistent across groups, indicating that the latent autism phenotype is similar among both autistic men and women. Subtle differences were observed on two social behaviour item thresholds of the Autism Spectrum Quotient Short Form, with women reporting scores more in line with the scores expected in autism on these items than men. However, these differences were not substantial. This study showed that the Autism Spectrum Quotient Short Form detects autistic traits equivalently in males and females and is not biased towards the male autism phenotype.

  5. Autism beyond diagnostic categories: characterization of autistic phenotypes in schizophrenia.

    Science.gov (United States)

    Kästner, Anne; Begemann, Martin; Michel, Tanja Maria; Everts, Sarah; Stepniak, Beata; Bach, Christiane; Poustka, Luise; Becker, Joachim; Banaschewski, Tobias; Dose, Matthias; Ehrenreich, Hannelore

    2015-05-13

    Behavioral phenotypical continua from health to disease suggest common underlying mechanisms with quantitative rather than qualitative differences. Until recently, autism spectrum disorders and schizophrenia were considered distinct nosologic entities. However, emerging evidence contributes to the blurring of symptomatic and genetic boundaries between these conditions. The present study aimed at quantifying behavioral phenotypes shared by autism spectrum disorders and schizophrenia to prepare the ground for biological pathway analyses. Specific items of the Positive and Negative Syndrome Scale were employed and summed up to form a dimensional autism severity score (PAUSS). The score was created in a schizophrenia sample (N = 1156) and validated in adult high-functioning autism spectrum disorder (ASD) patients (N = 165). To this end, the Autism Diagnostic Observation Schedule (ADOS), the Autism (AQ) and Empathy Quotient (EQ) self-rating questionnaires were applied back to back with the newly developed PAUSS. PAUSS differentiated between ASD, schizophrenia and a disease-control sample and substantially correlated with the Autism Diagnostic Observation Schedule. Patients with ADOS scores ≥12 obtained highest, those with scores genetic constellations modulating autistic phenotypes.

  6. Replication of bacteriophage lambda DNA

    International Nuclear Information System (INIS)

    Tsurimoto, T.; Matsubara, K.

    1983-01-01

    In this paper results of studies on the mechanism of bacteriophage lambda replication using molecular biological and biochemical approaches are reported. The purification of the initiator proteins, O and P, and the role of the O and P proteins in the initiation of lambda DNA replication through interactions with specific DNA sequences are described. 47 references, 15 figures

  7. Pattern replication by confined dewetting

    NARCIS (Netherlands)

    Harkema, S.; Schäffer, E.; Morariu, M.D.; Steiner, U

    2003-01-01

    The dewetting of a polymer film in a confined geometry was employed in a pattern-replication process. The instability of dewetting films is pinned by a structured confining surface, thereby replicating its topographic pattern. Depending on the surface energy of the confining surface, two different

  8. Charter School Replication. Policy Guide

    Science.gov (United States)

    Rhim, Lauren Morando

    2009-01-01

    "Replication" is the practice of a single charter school board or management organization opening several more schools that are each based on the same school model. The most rapid strategy to increase the number of new high-quality charter schools available to children is to encourage the replication of existing quality schools. This policy guide…

  9. Oral Health among Preschool Children with Autism Spectrum Disorders: A Case-Control Study

    Science.gov (United States)

    Du, Rennan Y; Yiu, Cynthia K. Y.; King, Nigel M.; Wong, Virginia C. N.; McGrath, Colman P. J.

    2015-01-01

    Aim: To assess and compare the oral health status of preschool children with and without autism spectrum disorders. Methods: A random sample of 347 preschool children with autism spectrum disorder was recruited from 19 Special Child Care Centres in Hong Kong. An age- and gender-matched sample was recruited from mainstream preschools as the control…

  10. The Prevalence of Internet Addiction among a Japanese Adolescent Psychiatric Clinic Sample with Autism Spectrum Disorder And/or Attention-Deficit Hyperactivity Disorder: A Cross-Sectional Study

    Science.gov (United States)

    So, Ryuhei; Makino, Kazunori; Fujiwara, Masaki; Hirota, Tomoya; Ohcho, Kozo; Ikeda, Shin; Tsubouchi, Shouko; Inagaki, Masatoshi

    2017-01-01

    Extant literature suggests that autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are risk factors for internet addiction (IA). The present cross-sectional study explored the prevalence of IA among 132 adolescents with ASD and/or ADHD in a Japanese psychiatric clinic using Young's Internet Addiction Test. The…

  11. [Behavioral intervention for preschool children with autism – outcome of parent-based Intervention].

    Science.gov (United States)

    Molnár, Claire; Eldevik, Sigmund

    2017-01-01

    Early intensive behavioral intervention (EIBI) has proved to be an effective intervention for children with autism spectrum disorder (ASD). In this exploratory study, we evaluated the effects of a community-based service model with parents as active therapists. 13 children with ASD between 2 and 5 years of age at intake participated in the study. A waiting-list control design was employed. The children received 1 year of home-based EIBI for approximately 20 hours a week, their parents functioning as primary therapists. The waiting-list control group consisted of seven children who were tested 6 months before the intervention commenced. The intervention was based on the University of California at Los Angeles Young Autism Project model (UCLA YAP; Lovaas, 1981, 1987, 2003). The Psychoeducational Profile (3rd ed., PEP-3), the Parenting Stress Index (PSI), and the Childhood Autism Rating Scale (2nd ed., CARS 2) were used to measure outcome. In addition, a mental developmental index (MDI) was calculated on the basis of the Cognitive Verbal/Preverbal subscale of the PEP-3. After 1 year of EIBI, we found a significant increase in the PEP-3 scores and MDI scores as well as a significant reduction in the CARS 2 scores. No significant changes were seen when participants were on the waiting list. The stress level of the parents did not change significantly and in fact showed overall a slight decrease. This model of providing EIBI appears to hold some promise. Comprehensive parental involvement did not affect their stress level. The study need to be replicated with a larger sample and an improved design.

  12. Assisted reproductive technology has no association with autism spectrum disorders: The Taiwan Birth Cohort Study.

    Science.gov (United States)

    Lung, For-Wey; Chiang, Tung-Liang; Lin, Shio-Jean; Lee, Meng-Chih; Shu, Bih-Ching

    2018-04-01

    The use of assisted reproduction technology has increased over the last two decades. Autism spectrum disorders and assisted reproduction technology share many risk factors. However, previous studies on the association between autism spectrum disorders and assisted reproduction technology have shown inconsistent results. The purpose of this study was to investigate the association between assisted reproduction technology and autism spectrum disorder diagnosis in a national birth cohort database. Furthermore, the results from the assisted reproduction technology and autism spectrum disorder propensity score matching exact matched datasets were compared. For this study, the 6- and 66-month Taiwan Birth Cohort Study datasets were used (N = 20,095). In all, 744 families were propensity score matching exact matched and selected as the assisted reproduction technology sample (ratio of assisted reproduction technology to controls: 1:2) and 415 families as the autism spectrum disorder sample (ratio of autism spectrum disorder to controls: 1:4). Using a national birth cohort dataset, controlling for the confounding factors of assisted reproduction technology conception and autism spectrum disorder diagnosis, both assisted reproduction technology and autism spectrum disorder propensity score matching matched datasets showed the same results of no association between assisted reproduction technology and autism spectrum disorder. Further study on the detailed information regarding the processes and methods of assisted reproduction technology may provide us with more information on the association between assisted reproduction technology and autism spectrum disorder.

  13. LHCb experience with LFC replication

    International Nuclear Information System (INIS)

    Bonifazi, F; Carbone, A; D'Apice, A; Dell'Agnello, L; Re, G L; Martelli, B; Ricci, P P; Sapunenko, V; Vitlacil, D; Perez, E D; Duellmann, D; Girone, M; Peco, G; Vagnoni, V

    2008-01-01

    Database replication is a key topic in the framework of the LHC Computing Grid to allow processing of data in a distributed environment. In particular, the LHCb computing model relies on the LHC File Catalog, i.e. a database which stores information about files spread across the GRID, their logical names and the physical locations of all the replicas. The LHCb computing model requires the LFC to be replicated at Tier-1s. The LCG 3D project deals with the database replication issue and provides a replication service based on Oracle Streams technology. This paper describes the deployment of the LHC File Catalog replication to the INFN National Center for Telematics and Informatics (CNAF) and to other LHCb Tier-1 sites. We performed stress tests designed to evaluate any delay in the propagation of the streams and the scalability of the system. The tests show the robustness of the replica implementation with performance going much beyond the LHCb requirements

  14. LHCb experience with LFC replication

    CERN Document Server

    Bonifazi, F; Perez, E D; D'Apice, A; dell'Agnello, L; Düllmann, D; Girone, M; Re, G L; Martelli, B; Peco, G; Ricci, P P; Sapunenko, V; Vagnoni, V; Vitlacil, D

    2008-01-01

    Database replication is a key topic in the framework of the LHC Computing Grid to allow processing of data in a distributed environment. In particular, the LHCb computing model relies on the LHC File Catalog, i.e. a database which stores information about files spread across the GRID, their logical names and the physical locations of all the replicas. The LHCb computing model requires the LFC to be replicated at Tier-1s. The LCG 3D project deals with the database replication issue and provides a replication service based on Oracle Streams technology. This paper describes the deployment of the LHC File Catalog replication to the INFN National Center for Telematics and Informatics (CNAF) and to other LHCb Tier-1 sites. We performed stress tests designed to evaluate any delay in the propagation of the streams and the scalability of the system. The tests show the robustness of the replica implementation with performance going much beyond the LHCb requirements.

  15. NACSA Charter School Replication Guide: The Spectrum of Replication Options. Authorizing Matters. Replication Brief 1

    Science.gov (United States)

    O'Neill, Paul

    2010-01-01

    One of the most important and high-profile issues in public education reform today is the replication of successful public charter school programs. With more than 5,000 failing public schools in the United States, there is a tremendous need for strong alternatives for parents and students. Replicating successful charter school models is an…

  16. AUTISM. Unraveling a pathway to autism

    NARCIS (Netherlands)

    Burbach, J Peter H

    2016-01-01

    Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders with shared symptoms in the area of communication and language, restricted interests, and stereotyped and social behaviors. Causes lie in perturbations of brain development, which can be manifold, but genetic

  17. Examining the Quality of IEPs for Young Children with Autism

    OpenAIRE

    Ruble, Lisa A.; McGrew, John; Dalrymple, Nancy; Jung, Lee Ann

    2010-01-01

    The purpose of this study was to develop an Individual Education Program (IEP) evaluation tool based on Individuals with Disabilities Education Act (IDEA) requirements and National Research Council recommendations for children with autism; determine the tool’s reliability; test the tool on a pilot sample of IEPs of young children; and examine associations between IEP quality and school, teacher, and child characteristics. IEPs for 35 students with autism (Mage = 6.1 years; SD = 1.6) from 35 d...

  18. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  19. Learning about Autism

    Science.gov (United States)

    Skip to main content Learning About Autism Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

  20. Autism Spectrum Disorder

    Centers for Disease Control (CDC) Podcasts

    This podcast discusses autism spectrum disorder (ASD), a developmental disability that causes problems with social, communication, and behavioral skills. CDC estimates that one in 68 children has been identified as having ASD.

  1. Childhood Autism In Africa

    Science.gov (United States)

    Lotter, Victor

    1978-01-01

    Mentally handicapped children were screened in 5 countries in Africa in order to explore the usefulness of Western criteria for the recognition of childhood autism in children from developing countries. (CM)

  2. Explicit versus implicit social cognition testing in autism spectrum disorder.

    Science.gov (United States)

    Callenmark, Björn; Kjellin, Lars; Rönnqvist, Louise; Bölte, Sven

    2014-08-01

    Although autism spectrum disorder is defined by reciprocal social-communication impairments, several studies have found no evidence for altered social cognition test performance. This study examined explicit (i.e. prompted) and implicit (i.e. spontaneous) variants of social cognition testing in autism spectrum disorder. A sample of 19 adolescents with autism spectrum disorder and 19 carefully matched typically developing controls completed the Dewey Story Test. 'Explicit' (multiple-choice answering format) and 'implicit' (free interview) measures of social cognition were obtained. Autism spectrum disorder participants did not differ from controls regarding explicit social cognition performance. However, the autism spectrum disorder group performed more poorly than controls on implicit social cognition performance in terms of spontaneous perspective taking and social awareness. Findings suggest that social cognition alterations in autism spectrum disorder are primarily implicit in nature and that an apparent absence of social cognition difficulties on certain tests using rather explicit testing formats does not necessarily mean social cognition typicality in autism spectrum disorder. © The Author(s) 2013.

  3. Behavioural and cognitive sex/gender differences in autism spectrum condition and typically developing males and females.

    Science.gov (United States)

    Hull, Laura; Mandy, William; Petrides, K V

    2017-08-01

    Studies assessing sex/gender differences in autism spectrum conditions often fail to include typically developing control groups. It is, therefore, unclear whether observed sex/gender differences reflect those found in the general population or are particular to autism spectrum conditions. A systematic search identified articles comparing behavioural and cognitive characteristics in males and females with and without an autism spectrum condition diagnosis. A total of 13 studies were included in meta-analyses of sex/gender differences in core autism spectrum condition symptoms (social/communication impairments and restricted/repetitive behaviours and interests) and intelligence quotient. A total of 20 studies were included in a qualitative review of sex/gender differences in additional autism spectrum condition symptoms. For core traits and intelligence quotient, sex/gender differences were comparable in autism spectrum conditions and typical samples. Some additional autism spectrum condition symptoms displayed different patterns of sex/gender differences in autism spectrum conditions and typically developing groups, including measures of executive function, empathising and systemising traits, internalising and externalising problems and play behaviours. Individuals with autism spectrum conditions display typical sex/gender differences in core autism spectrum condition traits, suggesting that diagnostic criteria based on these symptoms should take into account typical sex/gender differences. However, awareness of associated autism spectrum condition symptoms should include the possibility of different male and female phenotypes, to ensure those who do not fit the 'typical' autism spectrum condition presentation are not missed.

  4. Evaluating the iPad Mini® as a Speech-Generating Device in the Acquisition of a Discriminative Mand Repertoire for Young Children with Autism

    Science.gov (United States)

    Lorah, Elizabeth R.

    2018-01-01

    There has been an increased interest in research evaluating the use of handheld computing technology as speech-generating devices (SGD) for children with autism. However, given the reliance on single-subject research methodology, replications of these investigations are necessary. This study presents a replication with variation, of a method for…

  5. Pulih Dari Autisme

    OpenAIRE

    Hidayat, Meilinah

    2003-01-01

    Autisme adalah gangguan perkembangan pervasif pada anak yang umumnya muncul sebelum usia 3 tahun. Autisme bukan gangguan perilaku semata, tapi ada sebab-sebab fisik yang mendasarinya. Jadi pengobatannya selain untuk terapi mental, juga diperlukan intervensi biomedis untuk terapi fisik sesuai penyebab gejalanya. Dipaparkan kasus Alan yang didiagnosis sebagai ADD (Attention Deficit Disorder) / ADHD (Attention Deficit Disorder + Hiperactivity) dan Taylor yang didiagnosis sebagai Late onset infan...

  6. Occupational Therapy's Role with Autism

    Science.gov (United States)

    Fact Sheet Occupational Therapy’s Role with Autism Autism is a lifelong condition associated with a varied course from early childhood through adulthood. Occupational therapy practitioners are distinctly qualified to ...

  7. Signs and Symptoms of Autism

    Science.gov (United States)

    ... Search Form Controls Cancel Submit Search the CDC Autism Spectrum Disorder (ASD) Note: Javascript is disabled or ... Mitochondrial Disease FAQs Data & Statistics New Data on Autism Research & Tracking ADDM Community Report CADDRE SEED Frequently ...

  8. Race influences parent report of concerns about symptoms of autism spectrum disorder.

    Science.gov (United States)

    Donohue, Meghan Rose; Childs, Amber W; Richards, Megan; Robins, Diana L

    2017-11-01

    Racial differences in parent report of concerns about their child's development to healthcare providers may contribute to delayed autism spectrum disorder diagnoses in Black children. We tested the hypotheses that compared to White parents, Black parents of children with autism spectrum disorder would report fewer concerns about autism symptoms and would be more likely to report concerns about disruptive behaviors. A sample of 18- to 40-month-old toddlers ( N = 174) with autism spectrum disorder and their parent participated. After screening positive for autism spectrum disorder risk, but prior to a diagnostic evaluation, parents completed free-response questions soliciting concerns about their child's development. Parent responses were coded for the presence or the absence of 10 possible concerns, which were grouped into autism concerns (e.g. social and restricted and repetitive behavior concerns) or non-autism concerns (e.g. general developmental and disruptive behavior concerns). Compared to White parents, Black parents reported significantly fewer autism concerns and fewer social and restricted and repetitive behavior concerns. However, Black parents did not report significantly fewer non-autism concerns. Race did not influence parent report of disruptive behavior concerns. Lower reporting of autism concerns by Black parents may impact providers' abilities to identify children who need further screening or evaluation.

  9. Comparison of a Broad-Based Screen versus Disorder-Specific Screen in Detecting Young Children with an Autism Spectrum Disorder

    Science.gov (United States)

    Wiggins, Lisa D; Piazza, Vivian; Robins, Diana L

    2014-01-01

    The goals of our study were to (a) compare agreement between autism spectrum disorder diagnosis and outcome of the Modified Checklist for Autism in Toddlers and Parents Evaluation of Developmental Status in a sample of toddlers and (b) examine specific concerns noted for toddlers who screened negative on the Modified Checklist for Autism in…

  10. Affective Modulation of the Startle Eyeblink and Postauricular Reflexes in Autism Spectrum Disorder

    Science.gov (United States)

    Dichter, Gabriel S.; Benning, Stephen D.; Holtzclaw, Tia N.; Bodfish, James W.

    2010-01-01

    Eyeblink and postauricular reflexes to standardized affective images were examined in individuals without (n = 37) and with (n = 20) autism spectrum disorders (ASDs). Affective reflex modulation in control participants replicated previous findings. The ASD group, however, showed anomalous reflex modulation patterns, despite similar self-report…

  11. Using the Teaching Interactions Procedure to Teach Social Skills to Children with Autism and Intellectual Disability

    Science.gov (United States)

    Ng, Aubrey Hui Shyuan; Schulze, Kim; Rudrud, Eric; Leaf, Justin B.

    2016-01-01

    This study implemented a modified teaching interaction procedure to teach social skills to 4 children diagnosed with autism spectrum disorder with an intellectual disability. A multiple baseline design across social skills and replicated across participants was utilized to evaluate the effects of the modified teaching interaction procedure. The…

  12. Using a Personal Digital Assistant to Increase Independent Task Completion by Students with Autism Spectrum Disorder

    Science.gov (United States)

    Mechling, Linda C.; Gast, David L.; Seid, Nicole H.

    2009-01-01

    In this study, a personal digital assistant (PDA) with picture, auditory, and video prompts with voice over, was evaluated as a portable self-prompting device for students with autism spectrum disorder (ASD). Using a multiple probe design across three cooking recipes and replicated with three students with ASD, the system was tested for its…

  13. Using a Constant Time Delay Procedure to Teach Foundational Swimming Skills to Children with Autism

    Science.gov (United States)

    Rogers, Laura; Hemmeter, Mary Louise; Wolery, Mark

    2010-01-01

    The purpose of this study was to evaluate the effectiveness of using a constant time delay procedure to teach foundational swimming skills to three children with autism. The skills included flutter kick, front-crawl arm strokes, and head turns to the side. A multiple-probe design across behaviors and replicated across participants was used.…

  14. Structural Magnetic Resonance Imaging Data Do Not Help Support DSM-5 Autism Spectrum Disorder Category

    Science.gov (United States)

    Pina-Camacho, Laura; Villero, Sonia; Boada, Leticia; Fraguas, David; Janssen, Joost; Mayoral, Maria; Llorente, Cloe; Arango, Celso; Parellada, Mara

    2013-01-01

    This systematic review aims to determine whether or not structural magnetic resonance imaging (sMRI) data support the DSM-5 proposal of an autism spectrum disorder (ASD) diagnostic category, and whether or not classical DSM-IV autistic disorder (AD) and Asperger syndrome (AS) categories should be subsumed into it. The most replicated sMRI findings…

  15. Comparison of a Broad-Based Screen versus Disorder-Specific Screen in Detecting Young Children with an Autism Spectrum Disorder

    OpenAIRE

    Wiggins, Lisa D.; Piazza, Vivian; Robins, Diana L.

    2012-01-01

    The goals of our study were to (a) compare agreement between autism spectrum disorder diagnosis and outcome of the Modified Checklist for Autism in Toddlers and Parents Evaluation of Developmental Status in a sample of toddlers and (b) examine specific concerns noted for toddlers who screened negative on the Modified Checklist for Autism in Toddlers or Parents Evaluation of Developmental Status but were later diagnosed with autism spectrum disorder. Participants were administered the Modified...

  16. Strabismus in Autism Spectrum Disorder.

    Science.gov (United States)

    Kaplan, Melvin; Edelson, Stephen M.; Rimland, Bernard

    1999-01-01

    Two studies of strabismus ("crossed eyes") in children with autism are reported. A clinical optometric evaluation of 34 individuals with autism, ages 7 to 19 years, found a strabismus rate of 50% and a parent survey of 7,640 families of children with autism found an incidence of 18% (compared to 2-4% in the general population). (Author/DB)

  17. Green Space and Childhood Autism

    Science.gov (United States)

    Autism, a group of complex neurodevelopmental disorders typically identified in early childhood, affects more than 3 million people in the U.S. To date, the cause of autism is unclear. It is believed that autism results from a combination of genetic and environmental factors incl...

  18. SAP SE: Autism at Work

    DEFF Research Database (Denmark)

    Pisano, Gary P.; Austin, Robert D.

    2016-01-01

    This case describes SAP's 'Autism at Work' program, which integrates people with autism into the company's workforce. The company has a stated objective of making 1% o its workforce people with autism by 2020. SAP's rationale for the program is based on the belief that 'neurodiversity' contributes...

  19. Random Number Generation in Autism.

    Science.gov (United States)

    Williams, Mark A.; Moss, Simon A.; Bradshaw, John L.; Rinehart, Nicole J.

    2002-01-01

    This study explored the ability of 14 individuals with autism to generate a unique series of digits. Individuals with autism were more likely to repeat previous digits than comparison individuals, suggesting they may exhibit a shortfall in response inhibition. Results support the executive dysfunction theory of autism. (Contains references.)…

  20. Autism Overview: What We Know

    Science.gov (United States)

    US Department of Health and Human Services, 2005

    2005-01-01

    The National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH), within the U.S. Department of Health and Human Services, is one of many federal agencies working to understand autism. The NICHD supports and conducts research on what causes autism, how many people have autism, how best to treat…

  1. Language and pragmatic functions in school-age children on the autism spectrum.

    Science.gov (United States)

    Ramberg, C; Ehlers, S; Nydén, A; Johansson, M; Gillberg, C

    1996-01-01

    This study examined group differences in language and pragmatic functions across sex-, age- and IQ-matched samples of Asperger syndrome (N = 22), high-functioning autism (N = 11), deficits in attention, motor control and perception (DAMP) (N = 11), and speech and language disorder (SLD) (N = 11) groups. The purpose was to explore possible differentiating features in the fields of vocabulary, comprehension and pragmatics and, in addition, to determine whether Asperger syndrome could be reliably separated from high-functioning autism on these variables. The findings suggest that Asperger syndrome may be associated with higher full-scale and verbal IQ than high-functioning autism; Asperger syndrome may not be associated with better pragmatic skills (as defined in this context) than high-functioning autism; language comprehension may not clearly separate Asperger syndrome and high-functioning autism once the effects of very low IQ are partialled out; both DAMP and SLD can be distinctly separated from Asperger syndrome and autism.

  2. Embracing autism in Canadian rural communities.

    Science.gov (United States)

    Hoogsteen, Lindsey; Woodgate, Roberta L

    2013-06-01

    The purpose of this study was to explore the lived experience of Canadian parents living in rural areas who were parenting a child with autism. A phenomenological design described by van Manen was applied to guide this study. This study took place in rural communities of Western Canada. Purposive sampling was used to recruit 26 families parenting a child with autism in rural communities. Participants ranged in age from 26 to 50 years old and lived an average of 197 kilometres away from an urban city. Parents of children with autism took part in audio-taped, in-depth interviews. A total of 26 open-ended interviews were completed over four months with an average of 83 minutes per interview. All interviews and field notes were transcribed verbatim and analyzed using van Manen's selective highlighting approach. When describing the characteristics of living rurally while parenting a child with autism, parents reported that the rural community had (i) less of everything, (ii) safety and familiarity, and (iii) a family of support. Parents believed that although there were disadvantages to living in a rural community, parents felt isolated in terms of services but not in terms of the support received by the community. The results of this study add to our knowledge of parenting experiences with attention to the rural experience and furthermore, recommendations for nurses and health care professionals were provided. © 2013 The Authors. Australian Journal of Rural Health © National Rural Health Alliance Inc.

  3. Replicability and generalizability of PTSD networks

    DEFF Research Database (Denmark)

    Eiko I., Fried; Eidhof, Marloes B.; Palic, Sabina

    2018-01-01

    The growing literature conceptualizing mental disorders like Posttraumatic Stress Disorder (PTSD) as networks of interacting symptoms faces three key challenges. Prior studies predominantly used (a) small samples with low power for precise estimation, (b) non-clinical samples, and (c) single...... samples. This renders network structures in clinical data, and the extent to which networks replicate across datasets, unknown. To overcome these limitations, the present cross-cultural multisite study estimated regularized partial correlation networks of 16 PTSD symptoms across four datasets...... of traumatized patients receiving treatment for PTSD (total N=2,782). Despite differences in culture, trauma-type and severity of the samples, considerable similarities emerged, with moderate to high correlations between symptom profiles (0.43-0.82), network structures (0.62-0.74), and centrality estimates (0...

  4. REPLICATION TOOL AND METHOD OF PROVIDING A REPLICATION TOOL

    DEFF Research Database (Denmark)

    2016-01-01

    The invention relates to a replication tool (1, 1a, 1b) for producing a part (4) with a microscale textured replica surface (5a, 5b, 5c, 5d). The replication tool (1, 1a, 1b) comprises a tool surface (2a, 2b) defining a general shape of the item. The tool surface (2a, 2b) comprises a microscale...... energy directors on flange portions thereof uses the replication tool (1, 1a, 1b) to form an item (4) with a general shape as defined by the tool surface (2a, 2b). The formed item (4) comprises a microscale textured replica surface (5a, 5b, 5c, 5d) with a lateral arrangement of polydisperse microscale...

  5. Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Karen Blackmon

    2016-01-01

    Full Text Available Malformations of cortical development are found at higher rates in autism spectrum disorder (ASD than in healthy controls on postmortem neuropathological evaluation but are more variably observed on visual review of in-vivo MRI brain scans. This may be due to the visually elusive nature of many malformations on MRI. Here, we utilize a quantitative approach to determine whether a volumetric measure of heterotopic gray matter in the white matter is elevated in people with ASD, relative to typically developing controls (TDC. Data from a primary sample of 48 children/young adults with ASD and 48 age-, and gender-matched TDCs, selected from the Autism Brain Imaging Data Exchange (ABIDE open-access database, were analyzed to compare groups on (1 blinded review of high-resolution T1-weighted research sequences; and (2 quantitative measurement of white matter hypointensity (WMH volume calculated from the same T1-weighted scans. Groupwise WMH volume comparisons were repeated in an independent, multi-site sample (80 ASD/80 TDC, also selected from ABIDE. Visual review resulted in equivalent proportions of imaging abnormalities in the ASD and TDC group. However, quantitative analysis revealed elevated periventricular and deep subcortical WMH volumes in ASD. This finding was replicated in the independent, multi-site sample. Periventricular WMH volume was not associated with age but was associated with greater restricted repetitive behaviors on both parent-reported and clinician-rated assessment inventories. Thus, findings demonstrate that periventricular WMH volume is elevated in ASD and associated with a higher degree of repetitive behaviors and restricted interests. Although the etiology of focal WMH clusters is unknown, the absence of age effects suggests that they may reflect a static anomaly.

  6. Video Game Access, Parental Rules, and Problem Behavior: A Study of Boys with Autism Spectrum Disorder

    Science.gov (United States)

    Engelhardt, Christopher R.; Mazurek, Micah O.

    2014-01-01

    Environmental correlates of problem behavior among individuals with autism spectrum disorder remain relatively understudied. The current study examined the contribution of in-room (i.e. bedroom) access to a video game console as one potential correlate of problem behavior among a sample of 169 boys with autism spectrum disorder (ranging from 8 to…

  7. Epilepsy and other central nervous system diseases in atypical autism: a case control study

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2011-01-01

    There is an increased but variable risk of epilepsy in autism spectrum disorders. The objective of this study is to compare the prevalence and types of epilepsy and other central nervous system (CNS) diseases in a clinical sample of 89 individuals diagnosed as children with atypical autism (AA...

  8. Untended Wounds: Non-Suicidal Self-Injury in Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Maddox, Brenna B.; Trubanova, Andrea; White, Susan W.

    2017-01-01

    Recent studies have examined non-suicidal self-injury in community and clinical samples, but there is no published research on non-suicidal self-injury in individuals with autism spectrum disorder. This lack of research is surprising, since individuals with autism spectrum disorder have high rates of risk factors for non-suicidal self-injury,…

  9. Weight Status in Iranian Children with Autism Spectrum Disorders: Investigation of Underweight, Overweight and Obesity

    Science.gov (United States)

    Memari, Amir Hossein; Kordi, Ramin; Ziaee, Vahid; Mirfazeli, Fatemeh Sadat; Setoodeh, Mohammad S.

    2012-01-01

    The purpose of this study was to survey the weight status of children and adolescents with autism spectrum disorders (ASDs) in Iranian pupils and further to investigate the most likely associated factors such as demographics, autism severity and medications. The survey was designed to provide a random sample of 113 children and adolescents (boys =…

  10. Classifying Autism Spectrum Disorders by ADI-R: Subtypes or Severity Gradient?

    Science.gov (United States)

    Cholemkery, Hannah; Medda, Juliane; Lempp, Thomas; Freitag, Christine M.

    2016-01-01

    To reduce phenotypic heterogeneity of Autism spectrum disorders (ASD) and add to the current diagnostic discussion this study aimed at identifying clinically meaningful ASD subgroups. Cluster analyses were used to describe empirically derived groups based on the Autism Diagnostic Interview-revised (ADI-R) in a large sample of n = 463 individuals…

  11. Prevalence of Autism Spectrum Disorder Symptomatology and Related Behavioural Characteristics in Individuals with Down Syndrome

    Science.gov (United States)

    Moss, Jo; Richards, Caroline; Nelson, Lisa; Oliver, Chris

    2013-01-01

    We evaluated the proportion of individuals with Down syndrome (DS: N = 108) who met criteria for autism spectrum disorder (ASD) on the Social Communication Questionnaire and the severity of ASD-related symptomatology in this group. The proportions of individuals with DS meeting the cut-off for ASD and autism in this sample were 19% and 8%,…

  12. Parental Romantic Expectations and Parent-Child Sexuality Communication in Autism Spectrum Disorders

    Science.gov (United States)

    Holmes, Laura G.; Himle, Michael B.; Strassberg, Donald S.

    2016-01-01

    This study examined the relationship between core symptoms of autism spectrum disorder, parental romantic expectations, and parental provision of sexuality and relationship education in an online sample of 190 parents of youth 12-18 years of age with a parent-reported diagnosis of autism spectrum disorder. Regression analyses were conducted…

  13. Factors Influencing the Probability of a Diagnosis of Autism Spectrum Disorder in Girls versus Boys

    Science.gov (United States)

    Duvekot, Jorieke; van der Ende, Jan; Verhulst, Frank C.; Slappendel, Geerte; van Daalen, Emma; Maras, Athanasios; Greaves-Lord, Kirstin

    2017-01-01

    In order to shed more light on why referred girls are less likely to be diagnosed with autism spectrum disorder than boys, this study examined whether behavioral characteristics influence the probability of an autism spectrum disorder diagnosis differently in girls versus boys derived from a multicenter sample of consecutively referred children…

  14. Examination of the Korean Modified Checklist of Autism in Toddlers: Item Response Theory

    Science.gov (United States)

    Seung, HyeKyeung; Ji, Juye; Kim, Soo-Jin; Sung, Inkyung; Youn, Young-Ah; Hong, Gyunghun; Lee, Hyeonjin; Lee, Young Hwan; Lee, Hyunsuk; Youm, Hyun Kyung

    2015-01-01

    The study examined the clinical utility and psychometric properties of the Korean Modified Checklist of Autism in Toddlers (K-M-CHAT)-2. A sample of 2300 parents of 16- to 36-month-old children was recruited across South Korea. A phone interview was utilized to follow up with participants who initially screened positive for autism spectrum…

  15. The Association between Child Autism Symptomatology, Maternal Quality of Life, and Risk for Depression

    Science.gov (United States)

    Zablotsky, Benjamin; Anderson, Connie; Law, Paul

    2013-01-01

    Parents raising children with autism spectrum disorders (ASDs) have been shown to experience high levels of stress and report a lower quality of life. The current study examined the association between child autism symptomatology, mother's quality of life, and mother's risk for depression in a sample of 1,110 mothers recruited from a…

  16. The Broader Autism Phenotype and Friendships in Non-Clinical Dyads

    Science.gov (United States)

    Wainer, Allison L.; Block, Nicole; Donnellan, M. Brent; Ingersoll, Brooke

    2013-01-01

    The broader autism phenotype (BAP) is a set of subclinical traits qualitatively similar to those observed in autism spectrum disorders. The current study sought to elucidate the association between self- and informant-reports of the BAP and friendships, in a non-clinical sample of college student dyads. Self-informant agreement of the BAP and…

  17. Theory of Mind in Children with and without Autism Spectrum Disorder: Associations with the Sibling Constellation

    Science.gov (United States)

    Matthews, Nicole L.; Goldberg, Wendy A.

    2018-01-01

    The two prior studies that have examined associations between the sibling constellation and theory of mind in autism spectrum disorder yielded discrepant findings. Thus, efforts to better understand the sibling-theory of mind link in autism spectrum disorder are necessary. This study examined a sample of prekindergarten- and kindergarten-aged…

  18. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  19. The Anisotropy of Replicated Aluminum Foams

    Directory of Open Access Journals (Sweden)

    Eugeny L. Furman

    2014-01-01

    Full Text Available The replication casting process gives the open-cell aluminum foams that can be used in many industrial applications as well as in filtering technology. The essential requirement for filters is the uniformity of filtering degree which is defined by the minimal pore size. However the structure of replication castings is often inhomogeneous and the minimal pore radius is decreasing in the direction of melt infiltration. The objective of this investigation is to study the dynamics of melt impregnation of the porous medium by vacuum suction to identify the possibility of reducing the anisotropy. Theoretical data illustrate the processes at the boundary between melt and gas medium. The experiments were carried out using the replication aluminum samples produced according to commercial technology. It was found that the permeability coefficient varies throughout the height of castings. A method for estimation of pressure on the line of melt movement was proposed. The resistance of NaCl layer and circular vents of the mold causes the inhomogeneity of castings. Finally the ways of minimizing the anisotropy were offered.

  20. Biomarkers of replicative senescence revisited

    DEFF Research Database (Denmark)

    Nehlin, Jan

    2016-01-01

    Biomarkers of replicative senescence can be defined as those ultrastructural and physiological variations as well as molecules whose changes in expression, activity or function correlate with aging, as a result of the gradual exhaustion of replicative potential and a state of permanent cell cycle...... arrest. The biomarkers that characterize the path to an irreversible state of cell cycle arrest due to proliferative exhaustion may also be shared by other forms of senescence-inducing mechanisms. Validation of senescence markers is crucial in circumstances where quiescence or temporary growth arrest may...... be triggered or is thought to be induced. Pre-senescence biomarkers are also important to consider as their presence indicate that induction of aging processes is taking place. The bona fide pathway leading to replicative senescence that has been extensively characterized is a consequence of gradual reduction...

  1. Regulation of beta cell replication

    DEFF Research Database (Denmark)

    Lee, Ying C; Nielsen, Jens Høiriis

    2008-01-01

    Beta cell mass, at any given time, is governed by cell differentiation, neogenesis, increased or decreased cell size (cell hypertrophy or atrophy), cell death (apoptosis), and beta cell proliferation. Nutrients, hormones and growth factors coupled with their signalling intermediates have been...... suggested to play a role in beta cell mass regulation. In addition, genetic mouse model studies have indicated that cyclins and cyclin-dependent kinases that determine cell cycle progression are involved in beta cell replication, and more recently, menin in association with cyclin-dependent kinase...... inhibitors has been demonstrated to be important in beta cell growth. In this review, we consider and highlight some aspects of cell cycle regulation in relation to beta cell replication. The role of cell cycle regulation in beta cell replication is mostly from studies in rodent models, but whether...

  2. Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder.

    Science.gov (United States)

    Gadow, Kenneth D; Roohi, Jasmin; DeVincent, Carla J; Kirsch, Sarah; Hatchwell, Eli

    2009-11-01

    The aim of the study is to examine rs4680 (COMT) and rs6265 (BDNF) as genetic markers of anxiety, ADHD, and tics. Parents and teachers completed a DSM-IV-referenced rating scale for a total sample of 67 children with autism spectrum disorder (ASD). Both COMT (p = 0.06) and BDNF (p = 0.07) genotypes were marginally significant for teacher ratings of social phobia (etap (2) = 0.06). Analyses also indicated associations of BDNF genotype with parent-rated ADHD (p = 0.01, etap (2) = 0.10) and teacher-rated tics (p = 0.04; etap (2) = 0.07). There was also evidence of a possible interaction (p = 0.02, etap (2) = 0.09) of BDNF genotype with DAT1 3' VNTR with tic severity. BDNF and COMT may be biomarkers for phenotypic variation in ASD, but these preliminary findings remain tentative pending replication with larger, independent samples.

  3. Personality and Academic Motivation: Replication, Extension, and Replication

    Science.gov (United States)

    Jones, Martin H.; McMichael, Stephanie N.

    2015-01-01

    Previous work examines the relationships between personality traits and intrinsic/extrinsic motivation. We replicate and extend previous work to examine how personality may relate to achievement goals, efficacious beliefs, and mindset about intelligence. Approximately 200 undergraduates responded to the survey with a 150 participants replicating…

  4. Neuroimaging of autism

    Energy Technology Data Exchange (ETDEWEB)

    Verhoeven, Judith S; Cock, Paul de; Lagae, Lieven [University Hospitals of the Catholic University of Leuven, Department of Pediatrics, Leuven (Belgium); Sunaert, Stefan [University Hospitals of the Catholic University of Leuven, Department of Radiology, Leuven (Belgium)

    2010-01-15

    Neuroimaging studies done by means of magnetic resonance imaging (MRI) have provided important insights into the neurobiological basis for autism. The aim of this article is to review the current state of knowledge regarding brain abnormalities in autism. Results of structural MRI studies dealing with total brain volume, the volume of the cerebellum, caudate nucleus, thalamus, amygdala and the area of the corpus callosum are summarised. In the past 5 years also new MRI applications as functional MRI and diffusion tensor imaging brought considerable new insights in the pathophysiological mechanisms of autism. Dysfunctional activation in key areas of verbal and non-verbal communication, social interaction, and executive functions are revised. Finally, we also discuss white matter alterations in important communication pathways in the brain of autistic patients. (orig.)

  5. Neuroimaging of autism

    International Nuclear Information System (INIS)

    Verhoeven, Judith S.; Cock, Paul de; Lagae, Lieven; Sunaert, Stefan

    2010-01-01

    Neuroimaging studies done by means of magnetic resonance imaging (MRI) have provided important insights into the neurobiological basis for autism. The aim of this article is to review the current state of knowledge regarding brain abnormalities in autism. Results of structural MRI studies dealing with total brain volume, the volume of the cerebellum, caudate nucleus, thalamus, amygdala and the area of the corpus callosum are summarised. In the past 5 years also new MRI applications as functional MRI and diffusion tensor imaging brought considerable new insights in the pathophysiological mechanisms of autism. Dysfunctional activation in key areas of verbal and non-verbal communication, social interaction, and executive functions are revised. Finally, we also discuss white matter alterations in important communication pathways in the brain of autistic patients. (orig.)

  6. Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Rebecca E. Rosenberg

    2011-01-01

    Full Text Available We used a national online registry to examine variation in cumulative prevalence of community diagnosis of psychiatric comorbidity in 4343 children with autism spectrum disorders (ASD. Adjusted multivariate logistic regression models compared influence of individual, family, and geographic factors on cumulative prevalence of parent-reported anxiety disorder, depression, bipolar disorder, and attention deficit/hyperactivity disorder or attention deficit disorder. Adjusted odds of community-assigned lifetime psychiatric comorbidity were significantly higher with each additional year of life, with increasing autism severity, and with Asperger syndrome and pervasive developmental disorder—not otherwise specified compared with autistic disorder. Overall, in this largest study of parent-reported community diagnoses of psychiatric comorbidity, gender, autistic regression, autism severity, and type of ASD all emerged as significant factors correlating with cumulative prevalence. These findings could suggest both underlying trends in actual comorbidity as well as variation in community interpretation and application of comorbid diagnoses in ASD.

  7. Autonomous model protocell division driven by molecular replication.

    Science.gov (United States)

    Taylor, J W; Eghtesadi, S A; Points, L J; Liu, T; Cronin, L

    2017-08-10

    The coupling of compartmentalisation with molecular replication is thought to be crucial for the emergence of the first evolvable chemical systems. Minimal artificial replicators have been designed based on molecular recognition, inspired by the template copying of DNA, but none yet have been coupled to compartmentalisation. Here, we present an oil-in-water droplet system comprising an amphiphilic imine dissolved in chloroform that catalyses its own formation by bringing together a hydrophilic and a hydrophobic precursor, which leads to repeated droplet division. We demonstrate that the presence of the amphiphilic replicator, by lowering the interfacial tension between droplets of the reaction mixture and the aqueous phase, causes them to divide. Periodic sampling by a droplet-robot demonstrates that the extent of fission is increased as the reaction progresses, producing more compartments with increased self-replication. This bridges a divide, showing how replication at the molecular level can be used to drive macroscale droplet fission.Coupling compartmentalisation and molecular replication is essential for the development of evolving chemical systems. Here the authors show an oil-in-water droplet containing a self-replicating amphiphilic imine that can undergo repeated droplet division.

  8. Ubiquinol Improves Symptoms in Children with Autism

    NARCIS (Netherlands)

    Gvozdjakova, Anna; Kucharska, Jarmila; Ostatnikova, Daniela; Babinska, Katarina; Nakladal, Dalibor; Crane, Fred L.

    2014-01-01

    Background. Autism is a spectrum of neurodevelopmental disorders with manifestation within 3 years after birth. Manifestations of autism include behavior problems (hyperactivity, toys destruction, self-harm, and agression) and sleep and eating disorders. Etiology of autism is poorly understood.

  9. Autism Spectrum Disorder and Fragile X Syndrome

    Science.gov (United States)

    ... only after another family member has been diagnosed. Autism Spectrum Disorder and Fragile X Syndrome Fragile X syndrome is ... gene cause of ASD What Is Autism Spectrum Disorder? Autism spectrum disorder (ASD) is a behavioral diagnosis. The range ...

  10. Therapies for Children With Autism Spectrum Disorder

    Science.gov (United States)

    ... With Autism Spectrum Disorder Therapies for Children With Autism Spectrum Disorder Consumer Summary September 23, 2014 Download PDF 692. ... Web page Understanding Your Child's Condition What is autism spectrum disorder (ASD)? ASD includes a range of behavioral symptoms. ...

  11. Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism.

    Science.gov (United States)

    Philippi, A; Roschmann, E; Tores, F; Lindenbaum, P; Benajou, A; Germain-Leclerc, L; Marcaillou, C; Fontaine, K; Vanpeene, M; Roy, S; Maillard, S; Decaulne, V; Saraiva, J P; Brooks, P; Rousseau, F; Hager, J

    2005-10-01

    Autism is a developmental disorder characterized by impairments in social interaction and communication associated with repetitive patterns of interest or behavior. Autism is highly influenced by genetic factors. Genome-wide linkage and candidate gene association approaches have been used to try and identify autism genes. A few loci have repeatedly been reported linked to autism. Several groups reported evidence for linkage to a region on chromosome 16p. We have applied a direct physical identity-by-descent (IBD) mapping approach to perform a high-density (0.85 megabases) genome-wide linkage scan in 116 families from the AGRE collection. Our results confirm linkage to a region on chromosome 16p with autism. High-resolution single-nucleotide polymorphism (SNP) genotyping and analysis of this region show that haplotypes in the protein kinase c-beta gene are strongly associated with autism. An independent replication of the association in a second set of 167 trio families with autism confirmed our initial findings. Overall, our data provide evidence that the PRKCB1 gene on chromosome 16p may be involved in the etiology of autism.

  12. Autism and exergaming: effects on repetitive behaviors and cognition

    Directory of Open Access Journals (Sweden)

    Anderson-Hanley C

    2011-09-01

    Full Text Available Cay Anderson-Hanley, Kimberly Tureck, Robyn L Schneiderman Department of Psychology, Union College, Schenectady, NY, USA Abstract: Autism is a neurodevelopmental disorder that leads to impairment in social skills and delay in language development, and results in repetitive behaviors and restricted interests that impede academic and social involvement. Physical exercise has been shown to decrease repetitive behaviors in autistic children and improve cognitive function across the life-span. Exergaming combines physical and mental exercise simultaneously by linking physical activity movements to video game control and may yield better compliance with exercise. In this investigation, two pilot studies explored the potential behavioral and cognitive benefits of exergaming. In Pilot I, twelve children with autism spectrum disorders completed a control task and an acute bout of Dance Dance Revolution (DDR; in Pilot II, ten additional youths completed an acute bout of cyber cycling. Repetitive behaviors and executive function were measured before and after each activity. Repetitive behaviors significantly decreased, while performance on Digits Backwards improved following the exergaming conditions compared with the control condition. Additional research is needed to replicate these findings, and to explore the application of exergaming for the management of behavioral disturbance and to increase cognitive control in children on the autism spectrum. Keywords: autism, repetitive behaviors, exergaming, exercise, executive function

  13. Polybrominated diphenyl ethers in relation to autism and developmental delay: a case-control study

    Science.gov (United States)

    2011-01-01

    Background Polybrominated diphenyl ethers (PBDEs) are flame retardants used widely and in increasing amounts in the U.S. over the last few decades. PBDEs and their metabolites cross the placenta and studies in rodents demonstrate neurodevelopmental toxicity from prenatal exposures. PBDE exposures occur both via breastfeeding and hand-to-mouth activities in small children. Methods Participants were 100 children from the CHARGE (CHildhood Autism Risk from Genetics and the Environment) Study, a case-control epidemiologic investigation of children with autism/autism spectrum disorder, with developmental delay and from the general population. Diagnoses of autism were confirmed by the Autism Diagnostic Observation Schedule and Autism Diagnostic Inventory-Revised, and of developmental delay using the Mullen's Scales of Early Learning and the Vineland Adaptive Behavior Scales. Typically developing controls were those with no evidence of delay, autism, or autism spectrum disorder. Eleven PBDE congeners were measured by gas chromatography/mass spectrometry from serum specimens collected after children were assessed. Logistic regression was used to evaluate the association between plasma PBDEs and autism. Results Children with autism/autism spectrum disorder and developmental delay were similar to typically developing controls for all PBDE congeners, but levels were high for all three groups. Conclusions Plasma samples collected post-diagnosis in this study may not represent early life exposures due to changes in diet and introduction of new household products containing PBDEs. Studies with direct measurements of prenatal or infant exposures are needed to assess the possible causal role for these compounds in autism spectrum disorders. PMID:21205326

  14. Parental romantic expectations and parent-child sexuality communication in autism spectrum disorders.

    Science.gov (United States)

    Holmes, Laura G; Himle, Michael B; Strassberg, Donald S

    2016-08-01

    This study examined the relationship between core symptoms of autism spectrum disorder, parental romantic expectations, and parental provision of sexuality and relationship education in an online sample of 190 parents of youth 12-18 years of age with a parent-reported diagnosis of autism spectrum disorder. Regression analyses were conducted separately for youth with autism spectrum disorder + parent-reported average or above IQ and youth with autism spectrum disorder + parent-reported below average IQ. For youth with autism spectrum disorder + parent-reported average or above IQ, autism spectrum disorder severity predicted parental romantic expectations, but not parental provision of sexuality and relationship education. For youth with autism spectrum disorder + parent-reported below average IQ, parental romantic expectations mediated the relationship between autism spectrum disorder severity and parent provision of sexuality and relationship education. This supports the importance of carefully considering intellectual functioning in autism spectrum disorder sexuality research and suggests that acknowledging and addressing parent expectations may be important for parent-focused sexuality and relationship education interventions. © The Author(s) 2015.

  15. Social Communication Questionnaire Scoring Procedures for Autism Spectrum Disorder and the Prevalence of Potential Social Communication Disorder in ASD

    Science.gov (United States)

    Barnard-Brak, Lucy; Richman, David M.; Chesnut, Steven Randall; Little, Todd D.

    2016-01-01

    In analyzing data from the National Database for Autism Research, we utilized Mokken scaling techniques as a means of creating a more effective and efficient screening procedure for autism spectrum disorder (ASD) via the Social Communication Questionnaire (SCQ). With a sample of 1,040, approximately 80% (n = 827) of the sample were males while…

  16. Coping strategies of Taiwanese children with autism spectrum disorders.

    Science.gov (United States)

    Chin, Wei-Chih; Chao, Kuo-Yu; Chang, Hsueh-Ling; Li, Hsin-Mei; Chen, Sue-Hsien

    2017-11-01

    To explore and describe the coping experiences of children with autism spectrum disorders in Taiwan. Children with autism spectrum disorders are faced with daily social and living challenges, which can cause stress. Chinese culture emphasises discipline and obedience, which may influence coping strategies of children with autism spectrum disorders in Taiwan. This qualitative study employed an exploratory descriptive design. Data were collected from in-depth, face-to-face structured interviews. Interviews explored coping strategies of Taiwanese school-aged children (aged 6-19) with autism spectrum disorders. Children (N = 17) and their caregivers were recruited by purposive sampling. Transcribed interview data were thematically analysed using the procedure of Miles and Huberman. Five themes emerged from the analysis of the data, which described the coping strategies of the children: (1) problem-solving, (2) acting-out, (3) avoidance, (4) seeking help and (5) self-regulation. These themes included multiple coping strategies, which employed the concepts of engagement and disengagement. The children with autism spectrum disorder used many strategies to cope with the stresses resulting from behaviours and symptoms associated with the disorder. Most of the Taiwanese children use both problem-solving and emotional-focused coping strategies. Understanding coping strategies of children with autism spectrum disorder could help caregivers (parents, teachers) and medical professionals develop interventions to reduce these challenges, which could alleviate stress and improve social functioning for these children. © 2016 John Wiley & Sons Ltd.

  17. Gender Differences in Symptoms of Autism Spectrum Disorders in Toddlers

    Science.gov (United States)

    Sipes, Megan; Matson, Johnny L.; Worley, Julie A.; Kozlowski, Alison M.

    2011-01-01

    Gender differences in symptoms representing the triad of impairments of Autism Spectrum Disorders remain unclear. To date, the majority of research conducted on this topic has utilized samples of older children. Thus, the purpose of the current study was to utilize a sample of toddlers to investigate gender differences in symptom endorsements of…

  18. Neonatal levels of cytokines and risk of autism spectrum disorders

    DEFF Research Database (Denmark)

    Abdallah, Morsi; Larsen, Nanna; Mortensen, Erik L

    2012-01-01

    The aim of the study was to analyze cytokine profiles in neonatal dried blood samples (n-DBSS) retrieved from The Danish Newborn Screening Biobank of children developing Autism Spectrum Disorders (ASD) later in life and controls. Samples of 359 ASD cases and 741 controls were analyzed using Luminex...

  19. Chameleon Chasing II: A Replication.

    Science.gov (United States)

    Newsom, Doug A.; And Others

    1993-01-01

    Replicates a 1972 survey of students, educators, and Public Relations Society of America members regarding who the public relations counselor really serves. Finds that, in 1992, most respondents thought primary responsibility was to the client, then to the client's relevant publics, then to self, then to society, and finally to media. Compares…

  20. Hyperthermia stimulates HIV-1 replication.

    Directory of Open Access Journals (Sweden)

    Ferdinand Roesch

    Full Text Available HIV-infected individuals may experience fever episodes. Fever is an elevation of the body temperature accompanied by inflammation. It is usually beneficial for the host through enhancement of immunological defenses. In cultures, transient non-physiological heat shock (42-45°C and Heat Shock Proteins (HSPs modulate HIV-1 replication, through poorly defined mechanisms. The effect of physiological hyperthermia (38-40°C on HIV-1 infection has not been extensively investigated. Here, we show that culturing primary CD4+ T lymphocytes and cell lines at a fever-like temperature (39.5°C increased the efficiency of HIV-1 replication by 2 to 7 fold. Hyperthermia did not facilitate viral entry nor reverse transcription, but increased Tat transactivation of the LTR viral promoter. Hyperthermia also boosted HIV-1 reactivation in a model of latently-infected cells. By imaging HIV-1 transcription, we further show that Hsp90 co-localized with actively transcribing provirus, and this phenomenon was enhanced at 39.5°C. The Hsp90 inhibitor 17-AAG abrogated the increase of HIV-1 replication in hyperthermic cells. Altogether, our results indicate that fever may directly stimulate HIV-1 replication, in a process involving Hsp90 and facilitation of Tat-mediated LTR activity.

  1. Adressing Replication and Model Uncertainty

    DEFF Research Database (Denmark)

    Ebersberger, Bernd; Galia, Fabrice; Laursen, Keld

    innovation survey data for France, Germany and the UK, we conduct a ‘large-scale’ replication using the Bayesian averaging approach of classical estimators. Our method tests a wide range of determinants of innovation suggested in the prior literature, and establishes a robust set of findings on the variables...

  2. Replication of kinetoplast minicircle DNA

    International Nuclear Information System (INIS)

    Sheline, C.T.

    1989-01-01

    These studies describe the isolation and characterization of early minicircle replication intermediates from Crithidia fasciculata, and Leishmania tarentolae, the mitochondrial localization of a type II topoisomerase (TIImt) in C. fasciculata, and the implication of the aforementioned TIImt in minicircle replication in L. tarentolae. Early minicircle replication intermediates from C. fasciculata were identified and characterized using isolated kinetoplasts to incorporate radiolabeled nucleotides into its DNA. The pulse-label in an apparent theta-type intermediate chase into two daughter molecules. A uniquely gapped, ribonucleotide primed, knotted molecule represents the leading strand in the model proposed, and a highly gapped molecule represents the lagging strand. This theta intermediate is repaired in vitro to a doubly nicked catenated dimer which was shown to result from the replication of a single parental molecule. Very similar intermediates were found in the heterogeneous population of minicircles of L. tarentolae. The sites of the Leishmania specific discontinuities were mapped and shown to lie within the universally conserved sequence blocks in identical positions as compared to C. fasciculata and Trypanosoma equiperdum

  3. Manual of Cupule Replication Technology

    Directory of Open Access Journals (Sweden)

    Giriraj Kumar

    2015-09-01

    Full Text Available Throughout the world, iconic rock art is preceded by non-iconic rock art. Cupules (manmade, roughly semi-hemispherical depressions on rocks form the major bulk of the early non-iconic rock art globally. The antiquity of cupules extends back to the Lower Paleolithic in Asia and Africa, hundreds of thousand years ago. When one observes these cupules, the inquisitive mind poses so many questions with regard to understanding their technology, reasons for selecting the site, which rocks were used to make the hammer stones used, the skill and cognitive abilities employed to create the different types of cupules, the objective of their creation, their age, and so on. Replication of the cupules can provide satisfactory answers to some of these questions. Comparison of the hammer stones and cupules produced by the replication process with those obtained from excavation can provide support to observations. This paper presents a manual of cupule replication technology based on our experience of cupule replication on hard quartzite rock near Daraki-Chattan in the Chambal Basin, India.

  4. Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.

    Directory of Open Access Journals (Sweden)

    Po-Hsiu Kuo

    Full Text Available Autism spectrum disorder (ASD is a neurodevelopmental disorder with strong genetic components. Several recent genome-wide association (GWA studies in Caucasian samples have reported a number of gene regions and loci correlated with the risk of ASD--albeit with very little consensus across studies.A two-stage GWA study was employed to identify common genetic variants for ASD in the Taiwanese Han population. The discovery stage included 315 patients with ASD and 1,115 healthy controls, using the Affymetrix SNP array 6.0 platform for genotyping. Several gene regions were then selected for fine-mapping and top markers were examined in extended samples. Single marker, haplotype, gene-based, and pathway analyses were conducted for associations.Seven SNPs had p-values ranging from 3.4~9.9*10-6, but none reached the genome-wide significant level. Five of them were mapped to three known genes (OR2M4, STYK1, and MNT with significant empirical gene-based p-values in OR2M4 (p = 3.4*10(-5 and MNT (p = 0.0008. Results of the fine-mapping study showed single-marker associations in the GLIS1 (rs12082358 and rs12080993 and NAALADL2 (rs3914502 and rs2222447 genes, and gene-based associations for the OR2M3-OR2T5 (olfactory receptor genes, p = 0.02, and GLIPR1/KRR1 gene regions (p = 0.015. Pathway analyses revealed important pathways for ASD, such as olfactory and G protein-coupled receptors signaling pathways.We reported Taiwanese Han specific susceptibility genes and variants for ASD. However, further replication in other Asian populations is warranted to validate our findings. Investigation in the biological functions of our reported genetic variants might also allow for better understanding on the underlying pathogenesis of autism.

  5. Parental Stress in Families of Children With Autism and Other Developmental Disabilities.

    Science.gov (United States)

    Valicenti-McDermott, Maria; Lawson, Katharine; Hottinger, Kathryn; Seijo, Rosa; Schechtman, Merryl; Shulman, Lisa; Shinnar, Shlomo

    2015-11-01

    The level of parental stress in families of children with autism and other developmental disabilities and its association with child comorbid symptoms was studied in an ethnically diverse population, in a cross-sectional study with structured interview. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included Parenting Stress Index-Short Form, Gastrointestinal Questionnaire, Child Sleep Habits Questionnaire, and Aberrant Behavior Checklist. In this ethnically diverse sample, parental stress was significantly higher for the autism group and for non-Hispanic and US-born mothers. In both study groups, parental stress was related to child irritability. Parental stress was also related to gastrointestinal problems in the autism group and to sleep difficulties in the developmental disabilities group. Targeting child irritability may be particularly important in reducing parental stress for families of children with autism and other developmental disabilities. © The Author(s) 2015.

  6. Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.

    Science.gov (United States)

    Vojinovic, Dina; Brison, Nathalie; Ahmad, Shahzad; Noens, Ilse; Pappa, Irene; Karssen, Lennart C; Tiemeier, Henning; van Duijn, Cornelia M; Peeters, Hilde; Amin, Najaf

    2017-08-01

    Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with a complex genetic architecture. To identify genetic variants underlying ASD, we performed single-variant and gene-based genome-wide association studies using a dense genotyping array containing over 2.3 million single-nucleotide variants in a discovery sample of 160 families with at least one child affected with non-syndromic ASD using a binary (ASD yes/no) phenotype and a quantitative autistic trait. Replication of the top findings was performed in Psychiatric Genomics Consortium and Erasmus Rucphen Family (ERF) cohort study. Significant association of quantitative autistic trait was observed with the TTC25 gene at 17q21.2 (effect size=10.2, P-value=3.4 × 10 -7 ) in the gene-based analysis. The gene also showed nominally significant association in the cohort-based ERF study (effect=1.75, P-value=0.05). Meta-analysis of discovery and replication improved the association signal (P-value meta =1.5 × 10 -8 ). No genome-wide significant signal was observed in the single-variant analysis of either the binary ASD phenotype or the quantitative autistic trait. Our study has identified a novel gene TTC25 to be associated with quantitative autistic trait in patients with ASD. The replication of association in a cohort-based study and the effect estimate suggest that variants in TTC25 may also be relevant for broader ASD phenotype in the general population. TTC25 is overexpressed in frontal cortex and testis and is known to be involved in cilium movement and thus an interesting candidate gene for autistic trait.

  7. Crinivirus replication and host interactions

    Directory of Open Access Journals (Sweden)

    Zsofia A Kiss

    2013-05-01

    Full Text Available Criniviruses comprise one of the genera within the family Closteroviridae. Members in this family are restricted to the phloem and rely on whitefly vectors of the genera Bemisia and/or Trialeurodes for plant-to-plant transmission. All criniviruses have bipartite, positive-sense ssRNA genomes, although there is an unconfirmed report of one having a tripartite genome. Lettuce infectious yellows virus (LIYV is the type species of the genus, the best studied so far of the criniviruses and the first for which a reverse genetics system was available. LIYV RNA 1 encodes for proteins predicted to be involved in replication, and alone is competent for replication in protoplasts. Replication results in accumulation of cytoplasmic vesiculated membranous structures which are characteristic of most studied members of the Closteroviridae. These membranous structures, often referred to as BYV-type vesicles, are likely sites of RNA replication. LIYV RNA 2 is replicated in trans when co-infecting cells with RNA 1, but is temporally delayed relative to RNA1. Efficient RNA 2 replication also is dependent on the RNA 1-encoded RNA binding protein, P34. No LIYV RNA 2-encoded proteins have been shown to affect RNA replication, but at least four, CP, CPm, Hsp70h, and p59 are virion structural components and CPm is a determinant of whitefly transmissibility. Roles of other LIYV RNA 2-encoded proteins are largely as yet unknown, but P26 is a non-virion protein that accumulates in cells as characteristic plasmalemma deposits which in plants are localized within phloem parenchyma and companion cells over plasmodesmata connections to sieve elements. The two remaining crinivirus-conserved RNA 2-encoded proteins are P5 and P9. P5 is 39 amino acid protein and is encoded at the 5’ end of RNA 2 as ORF1 and is part of the hallmark closterovirus gene array. The orthologous gene in BYV has been shown to play a role in cell-to-cell movement and indicated to be localized to the

  8. Autism spectrum disorder - childhood disintegrative disorder

    Science.gov (United States)

    ... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... VA: American Psychiatric Publishing: 2013;50-59. Raviola GJ, ...

  9. Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families.

    Science.gov (United States)

    Losh, Molly; Childress, Debra; Lam, Kristen; Piven, Joseph

    2008-06-05

    This study examined the frequency of personality, language, and social-behavioral characteristics believed to comprise the broad autism phenotype (BAP), across families differing in genetic liability to autism. We hypothesized that within this unique sample comprised of multiple-incidence autism families (MIAF), single-incidence autism families (SIAF), and control Down syndrome families (DWNS), a graded expression would be observed for the principal characteristics conferring genetic susceptibility to autism, in which such features would express most profoundly among parents from MIAFs, less strongly among SIAFs, and least of all among comparison parents from DWNS families, who should display population base rates. Analyses detected linear expression of traits in line with hypotheses, and further suggested differential intrafamilial expression across family types. In the vast majority of MIAFs both parents displayed BAP characteristics, whereas within SIAFs, it was equally likely that one, both, or neither parent show BAP features. The significance of these findings is discussed in relation to etiologic mechanisms in autism and relevance to molecular genetic studies. (c) 2007 Wiley-Liss, Inc.

  10. No evidence of early head circumference enlargements in children later diagnosed with autism in Israel.

    Science.gov (United States)

    Dinstein, Ilan; Haar, Shlomi; Atsmon, Shir; Schtaerman, Hen

    2017-01-01

    Large controversy exists regarding the potential existence and clinical significance of larger brain volumes in toddlers who later develop autism. Assessing this relationship is important for determining the clinical utility of early head circumference (HC) measures and for assessing the validity of the early overgrowth hypothesis of autism, which suggests that early accelerated brain development may be a hallmark of the disorder. We performed a retrospective comparison of HC, height, and weight measurements between 66 toddlers who were later diagnosed with autism and 66 matched controls. These toddlers represent an unbiased regional sample from a single health service provider in the southern district of Israel. On average, participating toddlers had >8 measurements between birth and the age of two, which enabled us to characterize individual HC, height, and weight development with high precision and fit a negative exponential growth model to the data of each toddler with exceptional accuracy. The analyses revealed that HC sizes and growth rates were not significantly larger in toddlers with autism even when stratifying the autism group based on verbal capabilities at the time of diagnosis. In addition, there were no significant correlations between ADOS scores at the time of diagnosis and HC at any time-point during the first 2 years of life. These negative results add to accumulating evidence, which suggest that brain volume is not necessarily larger in toddlers who develop autism. We believe that conflicting results reported in other studies are due to small sample sizes, use of misleading population norms, changes in the clinical definition of autism over time, and/or inclusion of individuals with syndromic autism. While abnormally large brains may be evident in some individuals with autism and more clearly visible in MRI scans, converging evidence from this and other studies suggests that enlarged HC is not a common etiology of the entire autism population

  11. Epigenetics and autism.

    Science.gov (United States)

    Mbadiwe, Tafari; Millis, Richard M

    2013-01-01

    This review identifies mechanisms for altering DNA-histone interactions of cell chromatin to upregulate or downregulate gene expression that could serve as epigenetic targets for therapeutic interventions in autism. DNA methyltransferases (DNMTs) can phosphorylate histone H3 at T6. Aided by protein kinase C β 1, the DNMT lysine-specific demethylase-1 prevents demethylation of H3 at K4. During androgen-receptor-(AR-) dependent gene activation, this sequence may produce AR-dependent gene overactivation which may partly explain the male predominance of autism. AR-dependent gene overactivation in conjunction with a DNMT mechanism for methylating oxytocin receptors could produce high arousal inputs to the amygdala resulting in aberrant socialization, a prime characteristic of autism. Dysregulation of histone methyltransferases and histone deacetylases (HDACs) associated with low activity of methyl CpG binding protein-2 at cytosine-guanine sites in genes may reduce the capacity for condensing chromatin and silencing genes in frontal cortex, a site characterized by decreased cortical interconnectivity in autistic subjects. HDAC1 inhibition can overactivate mRNA transcription, a putative mechanism for the increased number of cerebral cortical columns and local frontal cortex hyperactivity in autistic individuals. These epigenetic mechanisms underlying male predominance, aberrant social interaction, and low functioning frontal cortex may be novel targets for autism prevention and treatment strategies.

  12. Epigenetics and Autism

    Directory of Open Access Journals (Sweden)

    Tafari Mbadiwe

    2013-01-01

    Full Text Available This review identifies mechanisms for altering DNA-histone interactions of cell chromatin to upregulate or downregulate gene expression that could serve as epigenetic targets for therapeutic interventions in autism. DNA methyltransferases (DNMTs can phosphorylate histone H3 at T6. Aided by protein kinase Cβ1, the DNMT lysine-specific demethylase-1 prevents demethylation of H3 at K4. During androgen-receptor-(AR- dependent gene activation, this sequence may produce AR-dependent gene overactivation which may partly explain the male predominance of autism. AR-dependent gene overactivation in conjunction with a DNMT mechanism for methylating oxytocin receptors could produce high arousal inputs to the amygdala resulting in aberrant socialization, a prime characteristic of autism. Dysregulation of histone methyltransferases and histone deacetylases (HDACs associated with low activity of methyl CpG binding protein-2 at cytosine-guanine sites in genes may reduce the capacity for condensing chromatin and silencing genes in frontal cortex, a site characterized by decreased cortical interconnectivity in autistic subjects. HDAC1 inhibition can overactivate mRNA transcription, a putative mechanism for the increased number of cerebral cortical columns and local frontal cortex hyperactivity in autistic individuals. These epigenetic mechanisms underlying male predominance, aberrant social interaction, and low functioning frontal cortex may be novel targets for autism prevention and treatment strategies.

  13. Autism Spectrum Disorder

    Centers for Disease Control (CDC) Podcasts

    2014-04-02

    This podcast discusses autism spectrum disorder (ASD), a developmental disability that causes problems with social, communication, and behavioral skills. CDC estimates that one in 68 children has been identified as having ASD.  Created: 4/2/2014 by National Center on Birth Defects and Developmental Disabilities (NCBDDD).   Date Released: 4/2/2014.

  14. Cognitive Theories of Autism

    Science.gov (United States)

    Rajendran, Gnanathusharan; Mitchell, Peter

    2007-01-01

    This article considers three theories of autism: The Theory of Mind Deficit, Executive Dysfunction and the Weak Central Coherence accounts. It outlines each along with studies relevant to their emergence, their expansion, their limitations and their possible integration. Furthermore, consideration is given to any implication from the theories in…

  15. Autism and Mitochondrial Disease

    Science.gov (United States)

    Haas, Richard H.

    2010-01-01

    Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears…

  16. Change in Autism Symptoms and Maladaptive Behaviors in Adolescence and Adulthood: The Role of Positive Family Processes

    OpenAIRE

    Woodman, Ashley C.; Smith, Leann E.; Greenberg, Jan S.; Mailick, Marsha R.

    2015-01-01

    Little is known about outcomes for individuals with autism spectrum disorders (ASD) into adulthood. Several characteristics of individuals with ASD predict long-term outcomes, and the family environment may also play a role. The present study uses a prospective, longitudinal design to describe and predict trajectories of autism symptoms and maladaptive behaviors over 8.5 years in a large, community-based sample of adolescents and adults with ASD. Overall, autism symptoms and maladaptive behav...

  17. Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age.

    Science.gov (United States)

    Tsang, Tawny; Gillespie-Lynch, Kristen; Hutman, Ted

    2016-01-01

    Subclinical variants of the social-communicative challenges and rigidity that define autism spectrum disorder (ASD) are known as the broader autism phenotype (BAP). The BAP has been conceptualized categorically (as specific to a subset of relatives of individuals with ASD) and dimensionally (as continuously distributed within the general population). The current study examined the compatibility of these two approaches by assessing associations among autism symptoms and social-communicative skills in young school-age children with ASD, children who have a sibling with ASD, and children without a sibling with ASD. Autism symptoms were associated with reduced Theory of Mind (ToM), adaptive skills, cognitive empathy, and language skills across the full sample. Reduced ToM was a core aspect of the BAP in the current sample regardless of whether the BAP was defined categorically (in terms of siblings of children with ASD who exhibited atypical developmental) or dimensionally (in terms of associations with autism symptoms across the entire sample). Early language skills predicted school-age ToM. Findings support the compatibility of categorical and dimensional approaches to the BAP, highlight reduced ToM as a core aspect of the school-age BAP, and suggest that narrative-based approaches to promoting ToM may be beneficial for siblings of children with ASD.

  18. Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age

    Directory of Open Access Journals (Sweden)

    Tawny Tsang

    2016-01-01

    Full Text Available Subclinical variants of the social-communicative challenges and rigidity that define autism spectrum disorder (ASD are known as the broader autism phenotype (BAP. The BAP has been conceptualized categorically (as specific to a subset of relatives of individuals with ASD and dimensionally (as continuously distributed within the general population. The current study examined the compatibility of these two approaches by assessing associations among autism symptoms and social-communicative skills in young school-age children with ASD, children who have a sibling with ASD, and children without a sibling with ASD. Autism symptoms were associated with reduced Theory of Mind (ToM, adaptive skills, cognitive empathy, and language skills across the full sample. Reduced ToM was a core aspect of the BAP in the current sample regardless of whether the BAP was defined categorically (in terms of siblings of children with ASD who exhibited atypical developmental or dimensionally (in terms of associations with autism symptoms across the entire sample. Early language skills predicted school-age ToM. Findings support the compatibility of categorical and dimensional approaches to the BAP, highlight reduced ToM as a core aspect of the school-age BAP, and suggest that narrative-based approaches to promoting ToM may be beneficial for siblings of children with ASD.

  19. Meta-analysis of Big Five personality traits in autism spectrum disorder.

    Science.gov (United States)

    Lodi-Smith, Jennifer; Rodgers, Jonathan D; Cunningham, Sara A; Lopata, Christopher; Thomeer, Marcus L

    2018-04-01

    The present meta-analysis synthesizes the emerging literature on the relationship of Big Five personality traits to autism spectrum disorder. Studies were included if they (1) either (a) measured autism spectrum disorder characteristics using a metric that yielded a single score quantification of the magnitude of autism spectrum disorder characteristics and/or (b) studied individuals with an autism spectrum disorder diagnosis compared to individuals without an autism spectrum disorder diagnosis and (2) measured Big Five traits in the same sample or samples. Fourteen reviewed studies include both correlational analyses and group comparisons. Eighteen effect sizes per Big Five trait were used to calculate two overall effect sizes per trait. Meta-analytic effects were calculated using random effects models. Twelve effects (per trait) from nine studies reporting correlations yielded a negative association between each Big Five personality trait and autism spectrum disorder characteristics (Fisher's z ranged from -.21 (conscientiousness) to -.50 (extraversion)). Six group contrasts (per trait) from six studies comparing individuals diagnosed with autism spectrum disorder to neurotypical individuals were also substantial (Hedges' g ranged from -.88 (conscientiousness) to -1.42 (extraversion)). The potential impact of personality on important life outcomes and new directions for future research on personality in autism spectrum disorder are discussed in light of results.

  20. Working Memory, Language Skills, and Autism Symptomatology

    Directory of Open Access Journals (Sweden)

    Jillian M. Schuh

    2012-11-01

    Full Text Available While many studies have reported working memory (WM impairments in autism spectrum disorders, others do not. Sample characteristics, WM domain, and task complexity likely contribute to these discrepancies. Although deficits in visuospatial WM have been more consistently documented, there is much controversy regarding verbal WM in autism. The goal of the current study was to explore visuospatial and verbal WM in a well-controlled sample of children with high-functioning autism (HFA and typical development. Individuals ages 9–17 with HFA (n = 18 and typical development (n = 18, were carefully matched on gender, age, IQ, and language, and were administered a series of standardized visuospatial and verbal WM tasks. The HFA group displayed significant impairment across WM domains. No differences in performance were noted across WM tasks for either the HFA or typically developing groups. Over and above nonverbal cognition, WM abilities accounted for significant variance in language skills and symptom severity. The current study suggests broad WM limitations in HFA. We further suggest that deficits in verbal WM are observed in more complex tasks, as well as in simpler tasks, such as phonological WM. Increased task complexity and linguistic demands may influence WM abilities.

  1. Mechanisms of bacterial DNA replication restart

    Science.gov (United States)

    Windgassen, Tricia A; Wessel, Sarah R; Bhattacharyya, Basudeb

    2018-01-01

    Abstract Multi-protein DNA replication complexes called replisomes perform the essential process of copying cellular genetic information prior to cell division. Under ideal conditions, replisomes dissociate only after the entire genome has been duplicated. However, DNA replication rarely occurs without interruptions that can dislodge replisomes from DNA. Such events produce incompletely replicated chromosomes that, if left unrepaired, prevent the segregation of full genomes to daughter cells. To mitigate this threat, cells have evolved ‘DNA replication restart’ pathways that have been best defined in bacteria. Replication restart requires recognition and remodeling of abandoned replication forks by DNA replication restart proteins followed by reloading of the replicative DNA helicase, which subsequently directs assembly of the remaining replisome subunits. This review summarizes our current understanding of the mechanisms underlying replication restart and the proteins that drive the process in Escherichia coli (PriA, PriB, PriC and DnaT). PMID:29202195

  2. Stoppage in Autism Spectrum Disorders

    DEFF Research Database (Denmark)

    Grønborg, Therese Koops; Hansen, Stefan Nygaard; Nielsen, Svend V

    2015-01-01

    of bias in sibling recurrence risk estimation. This study investigated whether stoppage occurs in Danish families with a firstborn child diagnosed with autism spectrum disorders, and if stoppage was differential. We found that stoppage occurs moderately in Danish families affected by autism spectrum...... disorders, and that stoppage is differential. However, differential stoppage is a minor source of estimation bias in Danish sibling recurrence risk studies of autism spectrum disorders....

  3. Novel Probiotic Therapies for Autism

    Science.gov (United States)

    2013-09-01

    1 AD_________________ Award Number: W81XWH-11-1-0515 TITLE: Novel Probiotic Therapies for Autism PRINCIPAL...August 2012 – 21 August 2013 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Novel Probiotic Therapies for Autism 5b. GRANT NUMBER W81XWH-11-0515...suggest a gut-microbiome-brain connection in autism, and identify a potential probiotic therapy for ASD. We have now developed assays for some of

  4. Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages

    OpenAIRE

    Chow, Maggie L.; Pramparo, Tiziano; Winn, Mary E.; Barnes, Cynthia Carter; Li, Hai-Ri; Weiss, Lauren; Fan, Jian-Bing; Murray, Sarah; April, Craig; Belinson, Haim; Fu, Xiang-Dong; Wynshaw-Boris, Anthony; Schork, Nicholas J.; Courchesne, Eric

    2012-01-01

    Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings of the disorder are largely unknown. Aberrant brain overgrowth is a well-replicated observation in the autism literature; but association, linkage, and expression studies have not identified genetic factors that explain this trajectory. Few studies have had sufficient statistical power to investigate whole-genome gene expression and genotypic variation in the autistic brain, especially in regions that disp...

  5. Mood Disorders in Mothers of Children on the Autism Spectrum Are Associated with Higher Functioning Autism

    Directory of Open Access Journals (Sweden)

    Roma A. Vasa

    2012-01-01

    Full Text Available Mood disorders occur more frequently in family members of individuals with autism spectrum disorders (ASD than in the general population. There may be associations between maternal mood disorder history patterns and specific ASD phenotypes. We therefore examined the relationship between maternal mood disorders and child autism spectrum disorders in 998 mother-child dyads enrolled in a national online autism registry and database. Mothers of children with ASD completed online questionnaires addressing their child’s ASD as well as their own mood disorder history. In multivariate logistic regression models of ASD diagnoses, the odds of an Asperger disorder versus autistic disorder diagnosis were higher among those children whose mothers had a lifetime history of bipolar disorder (OR 2.11, CI 1.20, 3.69 or depression (OR 1.62, CI 1.19, 2.19. Further, maternal mood disorder onset before first pregnancy was associated with higher odds (OR 2.35, CI 1.48, 3.73 of an Asperger versus autism diagnosis among this sample of children with ASD. These data suggest that differences in maternal mood disorder history may be associated with ASD phenotype in offspring.

  6. Gluten-free and casein-free diets in the therapy of autism.

    Science.gov (United States)

    Lange, Klaus W; Hauser, Joachim; Reissmann, Andreas

    2015-11-01

    The purpose of this study is to discuss the role of gluten-free and casein-free diets in the treatment of autism. In a recent UK survey, more than 80% of parents of children with autism spectrum disorder reported some kind of dietary intervention for their child (gluten-free and casein-free diet in 29%). When asked about the effects of the gluten-free and casein-free diet, 20-29% of the parents reported significant improvements on the autism spectrum disorder core dimensions. The findings of this study suggest additional effects of a gluten-free and casein-free diet on comorbid problems of autism such as gastrointestinal symptoms, concentration, and attention. The findings of another recent investigation suggested that age and certain urine compounds may predict the response of autism symptoms to a gluten-free and casein-free diet. Although these results need to be replicated, they highlight the importance of patient subgroup analysis. Intervention trials evaluating the effects of a gluten-free and casein-free diet on autistic symptoms have so far been contradictory and inconclusive. Most investigations assessing the efficacy of a gluten-free and casein-free diet in the treatment of autism are seriously flawed. The evidence to support the therapeutic value of this diet is limited and weak. A gluten-free and casein-free diet should only be administered if an allergy or intolerance to nutritional gluten or casein is diagnosed.

  7. [Specificity hypothesis of a theory of mind deficit in early childhood autism].

    Science.gov (United States)

    Kissgen, R; Schleiffer, R

    2002-02-01

    In order to test the hypothesis that a theory of mind deficit is specific for autism, the present study presents the first replication of the Sally-Anne test (Baron-Cohen, Leslie & Frith, 1985) in the German-speaking countries. The Sally-Anne test was administered to 16 autistic, 24 probands with Down's syndrome and 20 normal preschool prosands. The intelligence of the autistic group and that with Down's syndrome was measured by the CPM/SPM. In addition, the ADI-R was used with the principal caregivers of the autistic and Down's syndrome subjects. With regard to the clinical diagnosis, theory of mind deficit turned out to be not specific for autism. Six of 16 (37.5%) autistic subjects passed the theory of mind tasks. Thus performance in the autistic group surpassed that of both control groups. Out of 16 autistic subjects, autism could be confirmed in only 8 on the basis of the ADI-R diagnostic criteria, only one of whom showed a theory of mind. The autistic individuals with a theory of mind differed significantly in their mean IQ from those without this ability. Spectrum and specificity of a theory of mind deficit in autism remain controversial. For further research it seems important to administer the ADI-R during the diagnostic process. The findings suggest that the clinical diagnosis of autism is not precise enough to distinguish between autism and nonautistic mental handicap.

  8. The yeast replicative aging model.

    Science.gov (United States)

    He, Chong; Zhou, Chuankai; Kennedy, Brian K

    2018-03-08

    It has been nearly three decades since the budding yeast Saccharomyces cerevisiae became a significant model organism for aging research and it has emerged as both simple and powerful. The replicative aging assay, which interrogates the number of times a "mother" cell can divide and produce "daughters", has been a stalwart in these studies, and genetic approaches have led to the identification of hundreds of genes impacting lifespan. More recently, cell biological and biochemical approaches have been developed to determine how cellular processes become altered with age. Together, the tools are in place to develop a holistic view of aging in this single-celled organism. Here, we summarize the current state of understanding of yeast replicative aging with a focus on the recent studies that shed new light on how aging pathways interact to modulate lifespan in yeast. Copyright © 2018. Published by Elsevier B.V.

  9. Replicator dynamics in value chains

    DEFF Research Database (Denmark)

    Cantner, Uwe; Savin, Ivan; Vannuccini, Simone

    2016-01-01

    The pure model of replicator dynamics though providing important insights in the evolution of markets has not found much of empirical support. This paper extends the model to the case of firms vertically integrated in value chains. We show that i) by taking value chains into account, the replicator...... dynamics may revert its effect. In these regressive developments of market selection, firms with low fitness expand because of being integrated with highly fit partners, and the other way around; ii) allowing partner's switching within a value chain illustrates that periods of instability in the early...... stage of industry life-cycle may be the result of an 'optimization' of partners within a value chain providing a novel and simple explanation to the evidence discussed by Mazzucato (1998); iii) there are distinct differences in the contribution to market selection between the layers of a value chain...

  10. Replication confers β cell immaturity.

    Science.gov (United States)

    Puri, Sapna; Roy, Nilotpal; Russ, Holger A; Leonhardt, Laura; French, Esra K; Roy, Ritu; Bengtsson, Henrik; Scott, Donald K; Stewart, Andrew F; Hebrok, Matthias

    2018-02-02

    Pancreatic β cells are highly specialized to regulate systemic glucose levels by secreting insulin. In adults, increase in β-cell mass is limited due to brakes on cell replication. In contrast, proliferation is robust in neonatal β cells that are functionally immature as defined by a lower set point for glucose-stimulated insulin secretion. Here we show that β-cell proliferation and immaturity are linked by tuning expression of physiologically relevant, non-oncogenic levels of c-Myc. Adult β cells induced to replicate adopt gene expression and metabolic profiles resembling those of immature neonatal β that proliferate readily. We directly demonstrate that priming insulin-producing cells to enter the cell cycle promotes a functionally immature phenotype. We suggest that there exists a balance between mature functionality and the ability to expand, as the phenotypic state of the β cell reverts to a less functional one in response to proliferative cues.

  11. Chromatin replication and histone dynamics

    DEFF Research Database (Denmark)

    Alabert, Constance; Jasencakova, Zuzana; Groth, Anja

    2017-01-01

    Inheritance of the DNA sequence and its proper organization into chromatin is fundamental for genome stability and function. Therefore, how specific chromatin structures are restored on newly synthesized DNA and transmitted through cell division remains a central question to understand cell fate...... choices and self-renewal. Propagation of genetic information and chromatin-based information in cycling cells entails genome-wide disruption and restoration of chromatin, coupled with faithful replication of DNA. In this chapter, we describe how cells duplicate the genome while maintaining its proper...... organization into chromatin. We reveal how specialized replication-coupled mechanisms rapidly assemble newly synthesized DNA into nucleosomes, while the complete restoration of chromatin organization including histone marks is a continuous process taking place throughout the cell cycle. Because failure...

  12. Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome

    Science.gov (United States)

    Yuhas, Jennifer; Cordeiro, Lisa; Tassone, Flora; Ballinger, Elizabeth; Schneider, Andrea; Long, James M.; Ornitz, Edward M.; Hessl, David

    2011-01-01

    Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to…

  13. [Genetics and epigenetics in autism].

    Science.gov (United States)

    Nakayama, Atsuo; Masaki, Shiego; Aoki, Eiko

    2006-11-01

    Autism is a behaviorally defined syndrome characterized by impaired social interaction and communication, and restricted, stereotyped interests and behaviors. Several lines of evidence support the contention that genetic factors are a large component to autism etiology. However, in spite of vigorous genetic studies, no single causative or susceptibility gene common in autism has been identified. Thus multiple susceptibility genes in interaction are considered to account for the disorder. Furthermore, environmental risk factors can accelerate the autism development of. Recent advances in understanding the epigenetic regulation may shed light on the interaction among multiple genetic factors and environmental factors.

  14. Prenatal exposure to organophosphate pesticides and risk of autism spectrum disorders and other non-typical development at 3 years in a high-risk cohort.

    Science.gov (United States)

    Philippat, Claire; Barkoski, Jacqueline; Tancredi, Daniel J; Elms, Bill; Barr, Dana Boyd; Ozonoff, Sally; Bennett, Deborah H; Hertz-Picciotto, Irva

    2018-04-01

    Organophosphates are widely used pesticides that have been shown to affect child neurodevelopment. Previous studies that explored their potential effects on Autism Spectrum Disorder (ASD) relied either on proxies of external exposure or on questionnaires completed by the parents to identify autism-like behaviors but did not provide a clinical diagnosis of ASD. We studied the associations between prenatal biologic markers for exposure to organophosphate pesticides and the risk of having a child with ASD or other developmental concerns (ODC). We analyzed 203 mother-child pairs of the ongoing MARBLES (Markers of Autism Risk in Babies - Learning Early Signs) mother-child cohort, which enrolls mothers who are either pregnant or planning a pregnancy and whose expected child has an elevated risk to develop ASD. Seven metabolites of organophosphate pesticides were assessed in repeated urine samples collected during pregnancy. At 36 months, children were assessed with intruments measuring cognitive function and adaptive behaviors, and with two gold-standard diagnostic instruments for ASD: the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. Children were classified in one of the following groups: ASD (n = 46), ODC (n = 55) and typically developing (TD, n = 102). After adjustment for potential confounders, organophosphate metabolite concentrations were not associated with an increased risk of ASD or ODC when boys and girls were studied together. After stratification by sex, dimethylthiophosphate (DMTP) pregnancy concentration tended to be associated with an increased ASD risk among girls (OR for a doubling in the DMTP concentration: 1.64 (95%CI, 0.95; 2.82)) but not among boys (OR: 0.84, 95%CI: 0.63; 1.11). This is the first study of clinically confirmed diagnoses of ASD that utilized repeated measurements of organophosphate metabolites during pregnancy to explore the associations between these pesticides and ASD risk in

  15. A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale

    Science.gov (United States)

    Connolly, John J.; Glessner, Joseph T.; Hakonarson, Hakon

    2013-01-01

    Efforts to understand the causes of autism spectrum disorders (ASDs) have been hampered by genetic complexity and heterogeneity among individuals. One strategy for reducing complexity is to target endophenotypes, simpler biologically based measures that may involve fewer genes and constitute a more homogenous sample. A genome-wide association…

  16. A replication of a factor analysis of motivations for trapping

    Science.gov (United States)

    Schroeder, Susan; Fulton, David C.

    2015-01-01

    Using a 2013 sample of Minnesota trappers, we employed confirmatory factor analysis to replicate an exploratory factor analysis of trapping motivations conducted by Daigle, Muth, Zwick, and Glass (1998).  We employed the same 25 items used by Daigle et al. and tested the same five-factor structure using a recent sample of Minnesota trappers. We also compared motivations in our sample to those reported by Daigle et el.

  17. Live Replication of Paravirtual Machines

    OpenAIRE

    Stodden, Daniel

    2009-01-01

    Virtual machines offer a fair degree of system state encapsulation, which promotes practical advances in fault tolerance, system debugging, profiling and security applications. This work investigates deterministic replay and semi-active replication for system paravirtualization, a software discipline trading guest kernel binar compatibility for reduced dependency on costly trap-and-emulate techniques. A primary contribution is evidence that trace capturing under a piecewise deterministic exec...

  18. In vitro replication of poliovirus

    International Nuclear Information System (INIS)

    Lubinski, J.M.

    1986-01-01

    Poliovirus is a member of the Picornaviridae whose genome is a single stranded RNA molecule of positive polarity surrounded by a proteinaceous capsid. Replication of poliovirus occurs via negative strand intermediates in infected cells using a virally encoded RNA-dependent RNA polymerase and host cell proteins. The authors have exploited the fact that complete cDNA copies of the viral genome when transfected onto susceptible cells generate virus. Utilizing the bacteriophage SP6 DNA dependent RNA polymerase system to synthesize negative strands in vitro and using these in an in vitro reaction the authors have generated full length infectious plus strands. Mutagenesis of the 5' and 3' ends of the negative and positive strands demonstrated that replication could occur either de novo or be extensions of the templates from their 3' ends or from nicks occurring during replication. The appearance of dimeric RNA molecules generated in these reactions was not dependent upon the same protein required for de novo initiation. Full length dimeric RNA molecules using a 5' 32 P end-labelled oligo uridylic acid primer and positive strand template were demonstrated in vitro containing only the 35,000 Mr host protein and the viral RNA-dependent RNA polymerase. A model for generating positive strands without protein priming by cleavage of dimeric RNA molecules was proposed

  19. Teaching Language Skills to Preschool Students with Developmental Delays and Autism Spectrum Disorder Using Language for Learning

    Science.gov (United States)

    Flores, Margaret M.; Schweck, Kelly B.; Hinton, Vanessa

    2016-01-01

    Language intervention using Direct Instruction (DI) has shown positive results. There is a growing body of investigation of Language for Learning (LL), a DI program, on the performance of students with autism spectrum disorders (ASD) and students with developmental delays (DD). There is need for replication and extension of research to include…

  20. A Rapid Assessment of Instructional Strategies to Teach Auditory-Visual Conditional Discriminations to Children with Autism

    Science.gov (United States)

    Kodak, Tiffany; Clements, Andrea; LeBlanc, Brittany

    2013-01-01

    The purpose of the present investigation was to evaluate a rapid assessment procedure to identify effective instructional strategies to teach auditory-visual conditional discriminations to children diagnosed with autism. We replicated and extended previous rapid skills assessments (Lerman, Vorndran, Addison, & Kuhn, 2004) by evaluating the effects…

  1. A Randomized Controlled Trial to Improve Social Skills in Young Adults with Autism Spectrum Disorder: The UCLA PEERS® Program

    Science.gov (United States)

    Laugeson, Elizabeth A.; Gantman, Alexander; Kapp, Steven K.; Orenski, Kaely; Ellingsen, Ruth

    2015-01-01

    Research suggests that impaired social skills are often the most significant challenge for those with autism spectrum disorder (ASD), yet few evidence-based social skills interventions exist for adults on the spectrum. This replication trial tested the effectiveness of PEERS, a caregiver-assisted social skills program for high-functioning young…

  2. Adapted Shared Storybook Reading: A Study of Its Application for Children with Autism Spectrum Disorders in Home Settings

    Science.gov (United States)

    Golloher, Andrea N.

    2018-01-01

    This study investigated the use of an adapted shared reading protocol with three children with autism spectrum disorders (ASD) in home settings. Using a multiple baseline across participants design, this investigation replicated and extended a previous investigation by Browder et al. to children with ASD and home settings. In addition, this study…

  3. Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?

    Science.gov (United States)

    Wilson, C Ellie; Murphy, Clodagh M; McAlonan, Grainne; Robertson, Dene M; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P Quinton; Gillan, Nicola; Ohlsen, J Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C; Murphy, Declan GM

    2016-01-01

    It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered. PMID:26802113

  4. Comparative analysis of three screening instruments for autism spectrum disorder in toddlers at high risk.

    NARCIS (Netherlands)

    Oosterling, I.J.; Swinkels, S.H.N.; Gaag, R.J. van der; Visser, J.C.; Dietz, C.; Buitelaar, J.K.

    2009-01-01

    Several instruments have been developed to screen for autism spectrum disorders (ASD) in high-risk populations. However, few studies compare different instruments in one sample. Data were gathered from the Early Screening of Autistic Traits Questionnaire, Social Communication Questionnaire,

  5. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

    Directory of Open Access Journals (Sweden)

    Worley Gordon

    2009-10-01

    Full Text Available Abstract Background Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders. Methods We describe the use of high-resolution genome-wide tilepath microarrays and comparative genomic hybridization to identify copy number variants within 119 probands from multiplex autism families. We next carried out DNA methylation analysis by bisulfite sequencing in a proband and his family, expanding this analysis to methylation analysis of peripheral blood and temporal cortex DNA of autism cases and matched controls from independent datasets. We also assessed oxytocin receptor (OXTR gene expression within the temporal cortex tissue by quantitative real-time polymerase chain reaction (PCR. Results Our analysis revealed a genomic deletion containing the oxytocin receptor gene, OXTR (MIM accession no.: 167055, previously implicated in autism, was present in an autism proband and his mother who exhibits symptoms of obsessive-compulsive disorder. The proband's affected sibling did not harbor this deletion but instead may exhibit epigenetic misregulation of this gene through aberrant gene silencing by DNA methylation. Further DNA methylation analysis of the CpG island known to regulate OXTR expression identified several CpG dinucleotides that show independent statistically significant increases in the DNA methylation status in the peripheral blood cells and temporal cortex in independent datasets of individuals with autism as compared to control samples. Associated with the increase in methylation of these CpG dinucleotides is our finding that OXTR mRNA showed decreased expression in the temporal cortex tissue of autism cases matched for age and sex compared to controls. Conclusion Together, these data provide

  6. Translation and validation of Autism Diagnostic Interview-Revised (ADI-R for autism diagnosis in Brazil

    Directory of Open Access Journals (Sweden)

    Michele M. Becker

    2012-03-01

    Full Text Available OBJECTIVE: To translate into Brazilian Portuguese the Autism Diagnostic Interview-Revised (ADI-R, an extremely useful diagnostic tool in autism. METHODS: A case-control study was done to validate the ADI-R. After being translated, the interview was applied in a sample of 20 patients with autism and 20 patients with intellectual disability without autism, in order to obtain the initial psychometric properties. RESULTS: The internal consistency was high, with a of Crombach of 0.967. The validity of criterion had sensitivity and specificity of 100%, having as a gold standard the DSM-IV diagnostic criteria. The interview had high discriminant validity, with higher scores in the group of patients with autism, as well as high interobserver consistency, with median kappa of 0.824. CONCLUSION: The final version of ADI-R had satisfactory psychometric characteristics, indicating good preliminary validation properties. The instrument needs to be applied in bigger samples in other areas of the country.

  7. The sensitivity and specificity of the social communication questionnaire for autism spectrum with respect to age.

    Science.gov (United States)

    Barnard-Brak, Lucy; Brewer, Adam; Chesnut, Steven; Richman, David; Schaeffer, Anna Marie

    2016-08-01

    The age neutrality of the Social Communication Questionnaire (SCQ) was examined as a common screener for ASD. Mixed findings have been reported regarding the recommended cutoff score's ability to accurately classify an individual as at-risk for autism spectrum disorder (ASD) (sensitivity) versus accurately classifying an individual as not at-risk for ASD (specificity). With a sample from the National Database for Autism Research, this study examined the SCQ's sensitivity versus specificity. Analyses indicated that the actual sensitivity and specificity scores were lower than initially reported by the creators of the SCQ. Autism Res 2016, 9: 838-845. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

  8. Increasing Autism Prevalence in Metropolitan New Jersey

    Science.gov (United States)

    Zahorodny, Walter; Shenouda, Josephine; Howell, Sandra; Rosato, Nancy Scotto; Peng, Bo; Mehta, Uday

    2014-01-01

    High baseline autism spectrum disorder prevalence estimates in New Jersey led to a follow-up surveillance. The objectives were to determine autism spectrum disorder prevalence in the year 2006 in New Jersey and to identify changes in the prevalence of autism spectrum disorder or in the characteristics of the children with autism spectrum disorder,…

  9. Neural Mechanisms of Qigong Sensory Training Massage for Children With Autism Spectrum Disorder: A Feasibility Study.

    Science.gov (United States)

    Jerger, Kristin K; Lundegard, Laura; Piepmeier, Aaron; Faurot, Keturah; Ruffino, Amanda; Jerger, Margaret A; Belger, Aysenil

    2018-01-01

    Despite the enormous prevalence of autism spectrum disorder (ASD), its global impact has yet to be realized. Millions of families worldwide need effective treatments to help them get through everyday challenges like eating, sleeping, digestion, and social interaction. Qigong Sensory Training (QST) is a nonverbal, parent-delivered intervention recently shown to be effective at reducing these everyday challenges in children with ASD. This study tested the feasibility of a protocol for investigating QST's neural mechanism. During a single visit, 20 children, 4- to 7-year-old, with ASD viewed images of emotional faces before and after receiving QST or watching a video (controls). Heart rate variability was recorded throughout the visit, and power in the high frequency band (0.15-0.4 Hz) was calculated to estimate parasympathetic tone in 5-s nonoverlapping windows. Cerebral oximetry of prefrontal cortex was recorded during rest and while viewing emotional faces. 95% completion rate and 7.6% missing data met a priori standards confirming protocol feasibility for future studies. Preliminary data suggest: (1) during the intervention, parasympathetic tone increased more in children receiving massage (M = 2.9, SD = 0.3) versus controls (M = 2.5, SD = 0.5); (2) while viewing emotional faces post-intervention, parasympathetic tone was more affected (reduced) in the massage group ( p  = 0.036); and (3) prefrontal cortex response to emotional faces was greater after massage compared to controls. These results did not reach statistical significance in this small study powered to test feasibility. This study demonstrates solid protocol feasibility. If replicated in a larger sample, these findings would provide important clues to the neural mechanism of action underlying QST's efficacy for improving sensory, social, and communication difficulties in children with autism.

  10. Replication of micro and nano surface geometries

    DEFF Research Database (Denmark)

    Hansen, Hans Nørgaard; Hocken, R.J.; Tosello, Guido

    2011-01-01

    The paper describes the state-of-the-art in replication of surface texture and topography at micro and nano scale. The description includes replication of surfaces in polymers, metals and glass. Three different main technological areas enabled by surface replication processes are presented......: manufacture of net-shape micro/nano surfaces, tooling (i.e. master making), and surface quality control (metrology, inspection). Replication processes and methods as well as the metrology of surfaces to determine the degree of replication are presented and classified. Examples from various application areas...... are given including replication for surface texture measurements, surface roughness standards, manufacture of micro and nano structured functional surfaces, replicated surfaces for optical applications (e.g. optical gratings), and process chains based on combinations of repeated surface replication steps....

  11. Adenovirus sequences required for replication in vivo.

    OpenAIRE

    Wang, K; Pearson, G D

    1985-01-01

    We have studied the in vivo replication properties of plasmids carrying deletion mutations within cloned adenovirus terminal sequences. Deletion mapping located the adenovirus DNA replication origin entirely within the first 67 bp of the adenovirus inverted terminal repeat. This region could be further subdivided into two functional domains: a minimal replication origin and an adjacent auxillary region which boosted the efficiency of replication by more than 100-fold. The minimal origin occup...

  12. Parametrised Constants and Replication for Spatial Mobility

    DEFF Research Database (Denmark)

    Hüttel, Hans; Haagensen, Bjørn

    2009-01-01

    Parametrised replication and replication are common ways of expressing infinite computation in process calculi. While parametrised constants can be encoded using replication in the π-calculus, this changes in the presence of spatial mobility as found in e.g. the distributed π- calculus...... of the distributed π-calculus with parametrised constants and replication are incomparable. On the other hand, we shall see that there exists a simple encoding of recursion in mobile ambients....

  13. Broader autistic phenotype in parents of children with autism: Autism Spectrum Quotient-Turkish version.

    Science.gov (United States)

    Kose, Sezen; Bora, Emre; Erermiş, Serpil; Özbaran, Burcu; Bildik, Tezan; Aydın, Cahide

    2013-01-01

    The Autism Spectrum Quotient (AQ) is a self-assessment screening instrument for measuring the degree to which an individual of normal intelligence shows autistic traits. Genetic factors could be responsible for the relatives of individuals with autism exhibiting higher than normal rates of autism-related impairments, referred to as the 'broader autism phenotype' (BAP). The aim of this study was to test whether there is a difference between the parents of autistic and those of typically developing children (TDC) on AQ scores in a Turkish sample. The AQ total and subscale scores of the 100 parents (47 fathers, 53 mothers) of children with autistic disorder (AD) were compared with the 100 parents (48 fathers, 52 mothers) of TDC. The parents of AD children scored significantly higher than the TDC parents on total AQ score, and two of five subscale scores; social skills, and communication. The other three subscales (attention to detail, attention switching, imagination) did not differentiate groups. There was no significant difference between mothers and fathers on any AQ scores, neither in the AD nor TDC group. The group × gender interaction was not significant on the total or the five subscale scores of AQ. Social skill and communication subscales differentiate AD parents more successfully, and are more sensitive, as reported in other studies. The present findings confirm that social skill and communication impairments in parents of children with autism spectrum disorders are indicators of BAP. © 2013 The Authors. Psychiatry and Clinical Neurosciences © 2013 Japanese Society of Psychiatry and Neurology.

  14. Olfactory functions are not associated with autism severity in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Dudova I

    2013-11-01

    Full Text Available Iva Dudova, Michal HrdlickaDepartment of Child Psychiatry, University Hospital Motol, Prague, Czech RepublicBackground: Changes in olfactory functions have been found in many neurodegenerative and psychiatric disorders, including autism spectrum disorders (ASDs. The aim of the present study was to evaluate the relationship between olfactory functions (odor-detection thresholds, odor identification, and odor preference and autism severity and sensory-related behavior in children and adolescents with ASD.Subjects and methods: Our sample consisted of 35 high-functioning patients with ASD (mean age 10.8±3.6 years, 31 boys. Olfactory testing (threshold and identification used the Sniffin' Sticks test. Odor pleasantness was assessed on a 5-point scale using the Identification part of the Sniffin’ Sticks test. The severity of autistic psychopathology was measured using the Childhood Autism Rating Scale (CARS.Results: Using Spearman’s correlation, we found no significant correlations between autism severity (as expressed by total CARS score and odor-detection thresholds (R=0.144, P=0.409, odor identification (R=0.07, P=0.966, or odor pleasantness (R=-0.046, P=0.794. There was also no significant relationship between CARS item 9 (“Taste, smell, and touch response and use” and odor-detection thresholds (R=0.170, P=0.330, odor identification (R=0.282, P=0.100, or odor pleasantness (R=0.017, P=0.923.Conclusion: We did not find any significant relationship between the severity of autistic psychopathology and olfactory functions.Keywords: autism spectrum disorders, psychopathology, Sniffin’ Sticks, odor threshold, odor identification, odor pleasantness

  15. Autism – environmental risk

    Directory of Open Access Journals (Sweden)

    Henryka Langauer-Lewowicka 1

    2016-06-01

    Full Text Available The incidence of infantile autism due to developmental brain disorders has been permanently increasing in many parts of the world. Autism is characterized by impairments of communication and reciprocal social interaction and by restricted repetitive behaviours or interests. The causes of these disorders are not yet known. Experimental studies and clinical observation suggest that genetic and environmental factors could converge to result in neurotoxic mechanisms. These may lead to the development of autistic spectrum disorders (ASD. Several recent studies have indicated that perinatal exposure to environmental toxins may be the risk factor for ASD, among them: polybrominated diphenyl, esters, phthalates, bisphenol A, tetrabrombisphenol A, solvents, pesticides, and heavy metals. They can easily pass the placental and blood brain barriers and affect brain development.

  16. Biomarkers in Autism

    Directory of Open Access Journals (Sweden)

    Robert eHendren

    2014-08-01

    Full Text Available Autism spectrum disorders (ASD are complex, heterogeneous disorders caused by an interaction between genetic vulnerability and environmental factors. In an effort to better target the underlying roots of ASD for diagnosis and treatment, efforts to identify reliable biomarkers in genetics, neuroimaging, gene expression and measures of the body’s metabolism are growing. For this article, we review the published studies of potential biomarkers in autism and conclude that while there is increasing promise of finding biomarkers that can help us target treatment, there are none with enough evidence to support routine clinical use unless medical illness is suspected. Promising biomarkers include those for mitochondrial function, oxidative stress, and immune function. Genetic clusters are also suggesting the potential for useful biomarkers.

  17. Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder.

    Science.gov (United States)

    Freitag, Christine M; Agelopoulos, Konstantin; Huy, Ellen; Rothermundt, Matthias; Krakowitzky, Petra; Meyer, Jobst; Deckert, Jürgen; von Gontard, Alexander; Hohoff, Christa

    2010-01-01

    Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with increased rates of anxiety. The adenosine A(2A) receptor gene (ADORA2A) is associated with panic disorder and is located on chromosome 22q11.23. Its gene product, the adenosine A(2A) receptor, is strongly expressed in the caudate nucleus, which also is involved in ASD. As autistic symptoms are increased in individuals with 22q11.2 deletion syndrome, and large 22q11.2 deletions and duplications have been observed in ASD individuals, in this study, 98 individuals with ASD and 234 control individuals were genotyped for eight single-nucleotide polymorphisms in ADORA2A. Nominal association with the disorder was observed for rs2236624-CC, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474. In addition, association of ADORA2A variants with anxiety was replicated for individuals with ASD. Findings point toward a possible mediating role of ADORA2A variants on phenotypic expression in ASD that need to be replicated in a larger sample.

  18. Relationship between motor abilities and severity of autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Cvijetić Marija

    2017-01-01

    Full Text Available According to the findings in literature, motor skills of children with autism spectrum disorders generally differ from age expectations and are increasingly being associated with speech and language and social development, and adaptive behavior. The aim of the research was to determine the relationship between the development level of fine and gross motor skills and autism severity of children with autism spectrum disorder. The sample included 30 children with autism spectrum disorder and associated intellectual disability, seven to 19 years of age (M=11.97; SD=3.70. The assessment was conducted using the Peabody Motor Development Scale, the Vineland Adaptive Behavior Scale, and the criteria for describing the level of severity of autism spectrum disorder (APA, 2013. The results have shown that participants' motor skills significantly correlate with social communication (Peabody fine motor skills r=-0.452; p=0.012; Vineland fine motor skills r=-0.511; p=0.004; Vineland total r=-0.391; p=0.032 and restricted, repetitive behaviors (Peabody fine motor skills r=-0.383; p=0.037; Vineland fine motor skills r=-0.433; p=0.017; Vineland total r=-0.371; p=0.044. Lower level of autistic symptomatology is associated with higher motor achievements. It is necessary to pay more attention to the assessment and treatment of motor skills in children with autism spectrum disorder, given the established delay in the development of these skills, and bearing in mind their relationship with the severity of the symptoms of autism spectrum disorder. Timely identification of motor disorders would allow the use of early treatment and potentially lead to better results, compared to later inclusion in intervention programs.

  19. Epigenetics and Autism

    OpenAIRE

    Mbadiwe, Tafari; Millis, Richard M.

    2013-01-01

    This review identifies mechanisms for altering DNA-histone interactions of cell chromatin to upregulate or downregulate gene expression that could serve as epigenetic targets for therapeutic interventions in autism. DNA methyltransferases (DNMTs) can phosphorylate histone H3 at T6. Aided by protein kinase C ? 1, the DNMT lysine-specific demethylase-1 prevents demethylation of H3 at K4. During androgen-receptor-(AR-) dependent gene activation, this sequence may produce AR-dependent gene overac...

  20. Autism and sleep disorders

    OpenAIRE

    Devnani, Preeti A.; Hegde, Anaita U.

    2015-01-01

    Autism Spectrum Disorders” (ASDs) are neurodevelopment disorders and are characterized by persistent impairments in reciprocal social interaction and communication. Sleep problems in ASD, are a prominent feature that have an impact on social interaction, day to day life, academic achievement, and have been correlated with increased maternal stress and parental sleep disruption. Polysomnography studies of ASD children showed most of their abnormalities related to rapid eye movement (REM) slee...

  1. Equivalent neural responses in children and adolescents with and without autism during judgments of affect

    Directory of Open Access Journals (Sweden)

    Brent C. Vander Wyk

    2014-04-01

    Full Text Available Previous research has noted disrupted patterns of neural activation during emotion, processing in individuals with autism spectrum disorders (ASD. However, prior research relied on, designs that may place greater cognitive load on individuals with ASD. In order to address this issue, we adapted the fMRI task of Ochsner et al. (2004a for children by, presenting fewer stimuli, with fewer valence levels, and longer stimuli duration. A localizer sample of, typically developing children (n = 26 was used to construct regions of interest involved in emotional, processing. Activations in these regions during self- and other-referential emotion processing was, compared in age, IQ, gender matched groups (n = 17 ASD, n = 16 TD. Matched samples replicate, condition contrasts of the localizer, but no group differences were found in behavior measures or, neural activation. An exploratory functional connectivity analysis in a subset of the matched groups, also did not detect striking differences between the groups. These findings suggest that disruptions in activation in emotion processing neural networks in ASD is partially a function of task related cognitive load.

  2. 36 CFR 910.64 - Replication.

    Science.gov (United States)

    2010-07-01

    ... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Replication. 910.64 Section 910.64 Parks, Forests, and Public Property PENNSYLVANIA AVENUE DEVELOPMENT CORPORATION GENERAL... DEVELOPMENT AREA Glossary of Terms § 910.64 Replication. Replication means the process of using modern methods...

  3. Exploiting replicative stress to treat cancer

    DEFF Research Database (Denmark)

    Dobbelstein, Matthias; Sørensen, Claus Storgaard

    2015-01-01

    DNA replication in cancer cells is accompanied by stalling and collapse of the replication fork and signalling in response to DNA damage and/or premature mitosis; these processes are collectively known as 'replicative stress'. Progress is being made to increase our understanding of the mechanisms...

  4. Variance Swap Replication: Discrete or Continuous?

    Directory of Open Access Journals (Sweden)

    Fabien Le Floc’h

    2018-02-01

    Full Text Available The popular replication formula to price variance swaps assumes continuity of traded option strikes. In practice, however, there is only a discrete set of option strikes traded on the market. We present here different discrete replication strategies and explain why the continuous replication price is more relevant.

  5. Psychological type and attitude toward Christianity: a replication.

    Science.gov (United States)

    Francis, Leslie J; Robbins, Mandy; Boxer, Anna; Lewis, Christopher Alan; McGuckin, Conor; McDaid, Charles J

    2003-02-01

    A sample of 149 university students completed the Francis Psychological Type Scales together with the Francis Scale of Attitude Toward Christianity. The data indicated that university students classified as Feeling Types hold a more positive attitude toward Christianity than those classified as Thinking Types. These findings replicate the 1999 report of Jones and Francis.

  6. Personality and attitude toward Christianity among churchgoers: a replication.

    Science.gov (United States)

    Williams, Emyr; Francis, Leslie J

    2006-08-01

    A sample of 158 churchgoers attending eight Anglican churches in the United Kingdom completed the abbreviated Revised Eysenck Personality Questionnaire together with the Francis Scale of Attitude toward Christianity to replicate a 1996 study by Carter, Kay, and Francis. Data confirm that scores on Attitude toward Christianity were significantly negatively related to Psychoticism, but to neither Extraversion nor Neuroticism scores.

  7. Sleep Disorders, Epilepsy, and Autism

    Science.gov (United States)

    Malow, Beth A.

    2004-01-01

    The purpose of this review article is to describe the clinical data linking autism with sleep and epilepsy and to discuss the impact of treating sleep disorders in children with autism either with or without coexisting epileptic seizures. Studies are presented to support the view that sleep is abnormal in individuals with autistic spectrum…

  8. [Autism spectrum disorders in adults

    NARCIS (Netherlands)

    Kan, C.C.; Buitelaar, J.K.; Gaag, R.J. van der

    2008-01-01

    Early infantile autism' as defined by Kanner has grown into a spectrum of autistic disorders. The recognition of Asperger's disorder and of pervasive developmental disorder not otherwise specified (PDD-NOS), has led to increased demand for appropriate diagnostic assessment of autism in adults. The

  9. Children with Autism & Their Siblings

    Science.gov (United States)

    Cancro, Ralph

    2008-01-01

    The parent of the child with autism is faced with many home management challenges, not the least of which is the achievement of intra-family harmony among siblings. Sibling rivalry occurs in all families. However, the presence of a child with autism may, in some instances, intensify this rivalry. In this article, the author provides tips for…

  10. Material Voices: Intermediality and Autism

    Science.gov (United States)

    Trimingham, Melissa; Shaughnessy, Nicola

    2016-01-01

    Autism continues to be regarded enigmatically; a community that is difficult to access due to perceived disruptions of interpersonal connectedness. Through detailed observations of two children participating in the Arts and Humanities Research Council funded project "Imagining Autism: Drama, Performance and Intermediality as Interventions for…

  11. Understanding Autism in Schizophrenia

    Directory of Open Access Journals (Sweden)

    Arnaldo Ballerini

    2012-01-01

    Full Text Available Detachment from external reality, distancing from others, closure into a sort of virtual hermitage, and prevalence of inner fantasies, are the descriptive aspects of autism. However, from an anthropological-phenomenological point of view, in schizophrenia, the autistic mode of life can arise from a person’s being confronted with a pathological crisis in the obviousness of the intersubjective world, essentially a crisis in the intersubjective foundation of human presence. The “condition of possibility” of the autistic way of being is the deficiency of the operation that phenomenology call empathetic-intuitive constitution of the Other, an Other which is the naturalness of evidence of being a subject like me. The theme of the Other, of intersubjectivity, has become so central in the psychopathological analysis of schizophrenic disorders because the modifications of interhuman encounter cannot be seen as the secondary consequences of symptoms but constitute the fundamental disorder of schizophrenic alienation. Revision of the concept of autism from the original definition, centered on the prevalence of inner fantasies, leads to the profound change with the vision of autism as “loss” and “void.” I call attention to possibility of phenomenological research to understand autistic world starting from this “void.”

  12. Dietary methanol and autism.

    Science.gov (United States)

    Walton, Ralph G; Monte, Woodrow C

    2015-10-01

    The authors sought to establish whether maternal dietary methanol during pregnancy was a factor in the etiology of autism spectrum disorders. A seven item questionnaire was given to women who had given birth to at least one child after 1984. The subjects were solicited from a large primary care practice and several internet sites and separated into two groups - mothers who had given birth to a child with autism and those who had not. Average weekly methanol consumption was calculated based on questionnaire responses. 550 questionnaires were completed by women who gave birth to a non-autistic child. On average these women consumed 66.71mg. of methanol weekly. 161 questionnaires were completed by women who had given birth to an autistic child. The average estimated weekly methanol consumption for this group was 142.31mg. Based on the results of the Wilcoxon rank sum-test, we see a significant difference between the reported methanol consumption rates of the two groups. This study suggests that women who have given birth to an autistic child are likely to have had higher intake of dietary sources of methanol than women who have not. Further investigation of a possible link of dietary methanol to autism is clearly warranted. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  13. Brain imaging and autism

    International Nuclear Information System (INIS)

    Zilbovicius, M.

    2006-01-01

    Autism is a neuro-developmental disorder with a range of clinical presentations, from mild to severe, referred to as autism spectrum disorders (ASD). The most common clinical ASD sign is social interaction impairment, which is associated with verbal and non-verbal communication deficits and stereotyped and obsessive behaviors. Thanks to recent brain imaging studies, scientists are getting a better idea of the neural circuits involved in ASD. Indeed, functional brain imaging, such as positron emission tomography (PET), single positron emission tomograph y (SPECT) and functional MRI (fMRI) have opened a new perspective to study normal and pathological brain functions. Three independent studies have found anatomical and rest functional temporal abnormalities. These anomalies are localized in the superior temporal sulcus bilaterally which are critical for perception of key social stimuli. In addition, functional studies have shown hypo-activation of most areas implicated in social perception (face and voice perception) and social cognition (theory of mind). These data suggest an abnormal functioning of the social brain network. The understanding of such crucial abnormal mechanism may drive the elaboration of new and more adequate social re-educative strategies in autism. (author)

  14. Brain imaging and autism

    Energy Technology Data Exchange (ETDEWEB)

    Zilbovicius, M [Service Hospitalier Frederic Joliot (CEA/DSV/DRM), INSERM CEA 0205, 91 - Orsay (France)

    2006-07-01

    Autism is a neuro-developmental disorder with a range of clinical presentations, from mild to severe, referred to as autism spectrum disorders (ASD). The most common clinical ASD sign is social interaction impairment, which is associated with verbal and non-verbal communication deficits and stereotyped and obsessive behaviors. Thanks to recent brain imaging studies, scientists are getting a better idea of the neural circuits involved in ASD. Indeed, functional brain imaging, such as positron emission tomography (PET), single positron emission tomograph y (SPECT) and functional MRI (fMRI) have opened a new perspective to study normal and pathological brain functions. Three independent studies have found anatomical and rest functional temporal abnormalities. These anomalies are localized in the superior temporal sulcus bilaterally which are critical for perception of key social stimuli. In addition, functional studies have shown hypo-activation of most areas implicated in social perception (face and voice perception) and social cognition (theory of mind). These data suggest an abnormal functioning of the social brain network. The understanding of such crucial abnormal mechanism may drive the elaboration of new and more adequate social re-educative strategies in autism. (author)

  15. Understanding autism in schizophrenia.

    Science.gov (United States)

    Ballerini, Arnaldo

    2012-01-01

    Detachment from external reality, distancing from others, closure into a sort of virtual hermitage, and prevalence of inner fantasies, are the descriptive aspects of autism. However, from an anthropological-phenomenological point of view, in schizophrenia, the autistic mode of life can arise from a person's being confronted with a pathological crisis in the obviousness of the intersubjective world, essentially a crisis in the intersubjective foundation of human presence. The "condition of possibility" of the autistic way of being is the deficiency of the operation that phenomenology call empathetic-intuitive constitution of the Other, an Other which is the naturalness of evidence of being a subject like me. The theme of the Other, of intersubjectivity, has become so central in the psychopathological analysis of schizophrenic disorders because the modifications of interhuman encounter cannot be seen as the secondary consequences of symptoms but constitute the fundamental disorder of schizophrenic alienation. Revision of the concept of autism from the original definition, centered on the prevalence of inner fantasies, leads to the profound change with the vision of autism as "loss" and "void." I call attention to possibility of phenomenological research to understand autistic world starting from this "void."

  16. Effects of serial and concurrent training on receptive identification tasks: A Systematic replication.

    Science.gov (United States)

    Wunderlich, Kara L; Vollmer, Timothy R

    2017-07-01

    The current study compared the use of serial and concurrent methods to train multiple exemplars when teaching receptive language skills, providing a systematic replication of Wunderlich, Vollmer, Donaldson, and Phillips (2014). Five preschoolers diagnosed with developmental delays or autism spectrum disorders were taught to receptively identify letters or letter sounds. Subjects learned the target stimuli slightly faster in concurrent training and a high degree of generalization was obtained following both methods of training, indicating that both the serial and concurrent methods of training are efficient and effective instructional procedures. © 2017 Society for the Experimental Analysis of Behavior.

  17. Autism from a cognitive-pragmatic perspective

    OpenAIRE

    Reboul , Anne; Manificat , Sabine; Foudon , Nadège

    2012-01-01

    International audience; Autism is one of a group of three neuro-developmental disorders including, in addition to autism itself, Asperger Syndrome and a fairly heterogeneous group of patients who present some but not all of the symptoms of autism (see below, section 2.2). Asperger Syndrome and autism being the best described pathologies, notably in terms of language and language development, they will be the focus of our attention in what follows. Autism has been described as being to pragmat...

  18. Music therapy for children with autism

    OpenAIRE

    Thálová, Kateřina

    2012-01-01

    Music Therapy and Children with Autism Abstract The thesis entitled Music Therapy and Children with Autism deals with the characteristics of childhood autism and introduces music therapy as one of the possible forms of therapies, by means of which the development of children with autism can be positively influenced. The objective of the thesis is to record and organize theoretical knowledge regarding therapeutic effect of music on children with autism. The practical, empiric, part of the thes...

  19. The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders

    OpenAIRE

    Gerdts, Jennifer; Bernier, Raphael

    2011-01-01

    The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical tw...

  20. Autism: Collaborative Perspektives in Education

    Directory of Open Access Journals (Sweden)

    Imanuel Hitipeuw

    2016-02-01

    Full Text Available Autism is the continuum of impairments. Children with autism show intellectual, social, emotional, and language or communication disorder. Collaboration is an important aspect in delivering education/intervention for children. Professionals have to have knowledge and skill related to autism and have to team up with parent in dealing with the disorder. The unique profile of the individual with autism calls for emphasis in the areas of communication skills, social-emotional, behavioral, and sensory regulation, and communication. Pre-identification of the children may help teachers and parents to make decisions whether the child needs a referral or not. In this case, Indonesia needs to make more political will in order to implement autism education in various setting to address immediate needs of the children before the problem becomes more complicated

  1. The Gluten-Free, Casein-Free Diet in Autism: Results of a Preliminary Double Blind Clinical Trial

    Science.gov (United States)

    Elder, Jennifer Harrison; Shankar, Meena; Shuster, Jonathan; Theriaque, Douglas; Burns, Sylvia; Sherrill, Lindsay

    2006-01-01

    This study tested the efficacy of a gluten-free and casein-free (GFCF) diet in treating autism using a randomized, double blind repeated measures crossover design. The sample included 15 children aged 2-16 years with autism spectrum disorder. Data on autistic symptoms and urinary peptide levels were collected in the subjects' homes over the 12…

  2. Cognitive-Behavioral Therapy for Anxiety in Youth with an Autism Spectrum Disorder: A Follow-Up Study

    Science.gov (United States)

    Selles, Robert R.; Arnold, Elysse B.; Phares, Vicky; Lewin, Adam B.; Murphy, Tanya K.; Storch, Eric A.

    2015-01-01

    Cognitive-behavioral therapy for anxiety in youth with an autism spectrum disorder appears efficacious; however, maintenance of treatment gains has not yet been studied. Using a sample of 32 youth who had benefited at least minimally from a past trial of cognitive-behavioral therapy for anxiety in autism spectrum disorder, this study assessed…

  3. A Comparative Study of the Spontaneous Social Interactions of Children with High-Functioning Autism and Children with Asperger's Disorder

    Science.gov (United States)

    Macintosh, Kathleen; Dissanayake, Cheryl

    2006-01-01

    A comparative observational study was undertaken of the spontaneous social interactions of children with high-functioning autism and Asperger's disorder. The sample comprised 20 children with high-functioning autism, 19 children with Asperger's disorder and 17 typically developing children matched on chronological age and overall mental age. A…

  4. The Efficiency of Peer Teaching of Developing Non Verbal Communication to Children with Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    Alshurman, Wael; Alsreaa, Ihsani

    2015-01-01

    This study aimed at identifying the efficiency of peer teaching of developing non-verbal communication to children with autism spectrum disorder (ASD). The study was carried out on a sample of (10) children with autism spectrum disorder (ASD), diagnosed according to basics and criteria adopted at Al-taif qualification center at (2013) in The…

  5. The Mental Health of Individuals Referred for Assessment of Autism Spectrum Disorder in Adulthood: A Clinic Report

    Science.gov (United States)

    Russell, Ailsa J.; Murphy, Clodagh M.; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M.; Craig, Michael C.; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M.; Spain, Deborah; Murphy, Declan G. M.

    2016-01-01

    Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric…

  6. Psychiatric Disorders in Adolescents and Adults with Autism and Intellectual Disability: A Representative Study in One County in Norway

    Science.gov (United States)

    Bakken, Trine L.; Helverschou, Sissel B; Eilertsen, Dag E.; Heggelund, Trond; Myrbakk, Even; Martinsen, Harald

    2010-01-01

    Few studies assess psychiatric disorders in representative samples of individuals with autism and ID. Symptoms of autism and psychiatric disorders have been confounded. PAC, a conceptually analysed and validated screening instrument, was used. Aims: Assess prevalence of psychiatric disorders in individuals with intellectual disability only…

  7. Challenges and Successful Pedagogical Strategies: Experiences from Six Swedish Students with Blindness and Autism in Different School Settings

    Science.gov (United States)

    de Verdier, Kim; Fernell, Elisabeth; Ek, Ulla

    2018-01-01

    The prevalence of autism in children with blindness is much higher than in the general population. There are many challenges regarding the school situation for children with this complex dual disability. This study explored challenges and successful strategies in school for a sample of six Swedish children with blindness and autism, with and…

  8. Disembedding performance in children and adolescents with Asperger syndrome or high-functioning autism.

    Science.gov (United States)

    Kaland, Nils; Mortensen, Erik Lykke; Smith, Lars

    2007-01-01

    The aim of the present study was to assess the findings, reported in earlier studies, that individuals with autism spectrum disorders process visuo-spatial tasks faster than typically developing control persons. The participants in the present study were children and adolescents with Asperger syndrome (AS) or high-functioning autism (HFA) (N = 13), and a matched group of typically developing children and adolescents (N = 13). The results showed that the participants in the clinical group performed marginally less well than those in the control group on both the Block Design Test and the Embedded Figures Test, but the differences were not statistically significant. Thus, earlier findings suggesting that individuals with autism spectrum disorders solve non-social cognitive tasks faster than typically developing control persons were not replicated. The results are discussed with special reference to the hypothesis of weak central coherence.

  9. Physical Aggression in Children and Adolescents with Autism Spectrum Disorders

    Science.gov (United States)

    Mazurek, Micah O.; Kanne, Stephen M.; Wodka, Ericka L.

    2013-01-01

    Aggression is a clinically significant problem for many children and adolescents with autism spectrum disorders (ASD). However, there have been few large-scale studies addressing this issue. The current study examined the prevalence and correlates of physical aggression in a sample of 1584 children and adolescents with ASD enrolled in the Autism…

  10. Symbolic Communication Forms in Young Children with Autism Spectrum Disorder

    Science.gov (United States)

    Braddock, Barbara A.; Armbrecht, Eric S.

    2016-01-01

    The aim of this study was to examine how early symbolic forms (and their associated communicative functions) are related to change in communication among a sample of 12 young children with autism spectrum disorder (ASD) who produced two or fewer spoken words ("M" age = 28.75 months; 11 male, 1 female). Parents reported on children's…

  11. Comorbid Psychiatric Diagnoses in Preschoolers with Autism Spectrum Disorders

    Science.gov (United States)

    Hayashida, Kristen; Anderson, Bryan; Paparella, Tanya; Freeman, Stephanny F. N.; Forness, Steven R.

    2010-01-01

    Although comorbid or co-occurring psychiatric diagnoses such as attention deficit hyperactivity disorder, anxiety disorders, depression, and oppositional defiant or conduct disorders have been well studied in children or adolescents with autism spectrum disorders (ASDs), very little research is available on preschool samples. The current study…

  12. Injury Patterns among Individuals Diagnosed with Infantile Autism during Childhood

    DEFF Research Database (Denmark)

    Mouridsen, Svend-Erik; Rich, Bente; Isager, Torben

    2016-01-01

    Background: To date, injury risk among people with infantile autism (IA) has been a relatively poorly researched issue.Objective:The purpose of our study was to compare the prevalence and types of injuries in a clinical sample of 118 patients diagnosed with IA during childhood with those of 336 age...

  13. The Clinician Perspective on Sex Differences in Autism Spectrum Disorders

    Science.gov (United States)

    Jamison, Rene; Bishop, Somer L.; Huerta, Marisela; Halladay, Alycia K.

    2017-01-01

    Research studies using existing samples of individuals with autism spectrum disorders have identified differences in symptoms between males and females. Differences are typically reported in school age and adolescence, with similarities in symptom presentation at earlier ages. However, existing studies on sex differences are significantly limited,…

  14. Brief Report: Sexual Attraction and Relationships in Adolescents with Autism

    Science.gov (United States)

    May, Tamara; Pang, Ken C.; Williams, Katrina

    2017-01-01

    Past research suggests more variation in sexual attraction in Autism Spectrum Disorder (ASD) using clinical samples. This study utilised a population representative group of 14/15 year olds from the Longitudinal Study of Australian Children. Ninety-four adolescents (73 males, 21 females) with ASD and 3454 (1685 males, 1675 females) without…

  15. Tics and Tourette Syndrome in Autism Spectrum Disorders

    Science.gov (United States)

    Canitano, Roberto; Vivanti, Giacomo

    2007-01-01

    Autism spectrum disorders (ASDs) are more frequently associated with tic disorders than expected by chance. Variable rates of comorbidity have been reported and common genetic and neurobiological factors are probably involved. The aim of this study was to determine the rate of tic disorders in a clinical sample (n = 105) of children and…

  16. Examining the Quality of IEPs for Young Children with Autism

    Science.gov (United States)

    Ruble, Lisa A.; McGrew, John; Dalrymple, Nancy; Jung, Lee Ann

    2010-01-01

    The purpose of this study was to develop an Individual Education Program (IEP) evaluation tool based on Individuals with Disabilities Education Act (IDEA) requirements and National Research Council recommendations for children with autism; determine the tool's reliability; test the tool on a pilot sample of IEPs of young children; and examine…

  17. Neonatal chemokine levels and risk of autism spectrum disorders

    DEFF Research Database (Denmark)

    Abdallah, Morsi; Larsen, Nanna; Grove, Jakob

    2013-01-01

    A potential role of chemokines in the pathophysiology of Autism Spectrum Disorders (ASDs) has been previously suggested. In a recent study we examined levels of three inflammatory chemokines (MCP-1, MIP-1a and RANTES) in samples of amniotic fluid of children diagnosed later in life with ASD...

  18. Amniotic fluid MMP-9 and neurotrophins in autism spectrum disorders

    DEFF Research Database (Denmark)

    Abdallah, Morsi; Pearce, Brad D; Larsen, Nanna

    2012-01-01

    Evidence suggests that some developmental disorders, such as autism spectrum disorders (ASDs), are caused by errors in brain plasticity. Given the important role of matrix metalloproteinases (MMPs) and neurotrophins (NTs) in neuroplasticity, amniotic fluid samples for 331 ASD cases and 698...

  19. Autism genetic database (AGD: a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

    Directory of Open Access Journals (Sweden)

    Talebizadeh Zohreh

    2009-09-01

    Full Text Available Abstract Background Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism, but most discoveries either fail to be replicated or account for a small effect. Thus, in most cases the underlying causative genetic mechanisms are not fully understood. In the present work, the Autism Genetic Database (AGD was developed as a literature-driven, web-based, and easy to access database designed with the aim of creating a comprehensive repository for all the currently reported genes and genomic copy number variations (CNVs associated with autism in order to further facilitate the assessment of these autism susceptibility genetic factors. Description AGD is a relational database that organizes data resulting from exhaustive literature searches for reported susceptibility genes and CNVs associated with autism. Furthermore, genomic information about human fragile sites and noncoding RNAs was also downloaded and parsed from miRBase, snoRNA-LBME-db, piRNABank, and the MIT/ICBP siRNA database. A web client genome browser enables viewing of the features while a web client query tool provides access to more specific information for the features. When applicable, links to external databases including GenBank, PubMed, miRBase, snoRNA-LBME-db, piRNABank, and the MIT siRNA database are provided. Conclusion AGD comprises a comprehensive list of susceptibility genes and copy number variations reported to-date in association with autism, as well as all known human noncoding RNA genes and fragile sites. Such a unique and inclusive autism genetic database will facilitate the evaluation of autism susceptibility factors in relation to known human noncoding RNAs and fragile sites, impacting on human diseases. As a result, this new autism database offers a valuable tool for the research

  20. Power and precision of replicated helicopter surveys in mixed bushveld

    Directory of Open Access Journals (Sweden)

    B.K. Reilly

    1998-07-01

    Full Text Available It is well known that aerial game counts in South Africa are often applied in a non-standardised, unreplicated fashion. They contribute to poor management decisions based on their results as they may be subject to large statistical Type I and II errors. Replicate counts of large herbivores were conducted in a 8 500 ha sample site in the Loskop Dam Nature Reserve in July 1991. These data were used to estimate precision of the counts and estimate statistical power to detect population changes for different combinations of replications and significance levels.

  1. The Validity and Reliability of Autism Behavior Checklist

    Directory of Open Access Journals (Sweden)

    Negin Yousefi

    2015-11-01

    Full Text Available  Objectives: The aim of this study was to evaluate the psychometric features of the Persian version of the Autism Behavior Checklist (ABC.  Method:The International Quality of Life Assessment (IQOLA approach was used to translate the English ABC into Persian. A total sample of 184 parents of children including 114 children with autism disorder (mean age =7.21, SD =1.65 and 70 typically developing children (mean age = 6.82, SD =1.75 completed the ABC. Internal consistency, test-retest reliability, concurrent and discriminant validity, and cut-off score were assessed. Results: The results of this study revealed that the Persian version of the ABC has an acceptable degree of internal consistency (.73. Test–retest comparisons using interclass correlation confirmed the instrument’s time stability (.83. The instrument’s concurrent validity with Gilliam Autism Rating Scale (GARS was verified; the correlation between total scores was .94. In the discriminant validity, the autism group had significantly higher scores compared to the normal group. Receiver Operating Characteristic (ROC analysis revealed that individuals with total scores below 25 are less likely to be in the autism group. Conclusion:The Persian version of the ABC can be used as an initial screening tool in clinical contexts.

  2. Autism spectrum features in Smith-Magenis syndrome.

    Science.gov (United States)

    Laje, Gonzalo; Morse, Rebecca; Richter, William; Ball, Jonathan; Pao, Maryland; Smith, Ann C M

    2010-11-15

    Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T-scores (P = 0.02), in the social cognition (P = 0.01) and autistic mannerisms (P = 0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and autism spectrum disorders.

  3. Replication dynamics of the yeast genome.

    Science.gov (United States)

    Raghuraman, M K; Winzeler, E A; Collingwood, D; Hunt, S; Wodicka, L; Conway, A; Lockhart, D J; Davis, R W; Brewer, B J; Fangman, W L

    2001-10-05

    Oligonucleotide microarrays were used to map the detailed topography of chromosome replication in the budding yeast Saccharomyces cerevisiae. The times of replication of thousands of sites across the genome were determined by hybridizing replicated and unreplicated DNAs, isolated at different times in S phase, to the microarrays. Origin activations take place continuously throughout S phase but with most firings near mid-S phase. Rates of replication fork movement vary greatly from region to region in the genome. The two ends of each of the 16 chromosomes are highly correlated in their times of replication. This microarray approach is readily applicable to other organisms, including humans.

  4. Chromosomal DNA replication of Vicia faba cells

    International Nuclear Information System (INIS)

    Ikushima, Takaji

    1976-01-01

    The chromosomal DNA replication of higher plant cells has been investigated by DNA fiber autoradiography. The nuclear DNA fibers of Vicia root meristematic cells are organized into many tandem arrays of replication units or replicons which exist as clusters with respect to replication. DNA is replicated bidirectionally from the initiation points at the average rate of 0.15 μm/min at 20 0 C, and the average interinitiation interval is about 16 μm. The manner of chromosomal DNA replication in this higher plant is similar to that found in other eukaryotic cells at a subchromosomal level. (auth.)

  5. Inferential misconceptions and replication crisis

    Directory of Open Access Journals (Sweden)

    Norbert Hirschauer

    2016-12-01

    Full Text Available Misinterpretations of the p value and the introduction of bias through arbitrary analytical choices have been discussed in the literature for decades. Nonetheless, they seem to have persisted in empirical research, and criticisms of p value misuses have increased in the recent past due to the non-replicability of many studies. Unfortunately, the critical concerns that have been raised in the literature are scattered over many disciplines, often linguistically confusing, and differing in their main reasons for criticisms. Misuses and misinterpretations of the p value are currently being discussed intensely under the label “replication crisis” in many academic disciplines and journals, ranging from specialized scientific journals to Nature and Science. In a drastic response to the crisis, the editors of the journal Basic and Applied Social Psychology even decided to ban the use of p values from future publications at the beginning of 2015, a fact that has certainly added fuel to the discussions in the relevant scientific forums. Finally, in early March, the American Statistical Association released a brief formal statement on p values that explicitly addresses misuses and misinterpretations. In this context, we systematize the most serious flaws related to the p value and discuss suggestions of how to prevent them and reduce the rate of false discoveries in the future.

  6. Mammalian RAD52 Functions in Break-Induced Replication Repair of Collapsed DNA Replication Forks

    DEFF Research Database (Denmark)

    Sotiriou, Sotirios K; Kamileri, Irene; Lugli, Natalia

    2016-01-01

    Human cancers are characterized by the presence of oncogene-induced DNA replication stress (DRS), making them dependent on repair pathways such as break-induced replication (BIR) for damaged DNA replication forks. To better understand BIR, we performed a targeted siRNA screen for genes whose...... RAD52 facilitates repair of collapsed DNA replication forks in cancer cells....

  7. Repair replication in replicating and nonreplicating DNA after irradiation with uv light

    Energy Technology Data Exchange (ETDEWEB)

    Slor, H.; Cleaver, J.E.

    1978-06-01

    Ultraviolet light induces more pyrimidine dimers and more repair replication in DNA that replicates within 2 to 3 h of irradiation than in DNA that does not replicate during this period. This difference may be due to special conformational changes in DNA and chromatin that might be associated with semiconservative DNA replication.

  8. Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort.

    Science.gov (United States)

    Feinberg, Jason I; Bakulski, Kelly M; Jaffe, Andrew E; Tryggvadottir, Rakel; Brown, Shannon C; Goldman, Lynn R; Croen, Lisa A; Hertz-Picciotto, Irva; Newschaffer, Craig J; Fallin, M Daniele; Feinberg, Andrew P

    2015-08-01

    Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical association of Prader-Willi syndrome, an imprinting disorder, with autistic features. Here we tested for the relationship of paternal sperm DNA methylation with autism risk in offspring, examining an enriched-risk cohort of fathers of autistic children. We examined genome-wide DNA methylation (DNAm) in paternal semen biosamples obtained from an autism spectrum disorder (ASD) enriched-risk pregnancy cohort, the Early Autism Risk Longitudinal Investigation (EARLI) cohort, to estimate associations between sperm DNAm and prospective ASD development, using a 12-month ASD symptoms assessment, the Autism Observation Scale for Infants (AOSI). We analysed methylation data from 44 sperm samples run on the CHARM 3.0 array, which contains over 4 million probes (over 7 million CpG sites), including 30 samples also run on the Illumina Infinium HumanMethylation450 (450K) BeadChip platform (∼485 000 CpG sites). We also examined associated regions in an independent sample of post-mortem human brain ASD and control samples for which Illumina 450K DNA methylation data were available. Using region-based statistical approaches, we identified 193 differentially methylated regions (DMRs) in paternal sperm with a family-wise empirical P-value [family-wise error rate (FWER)] Autism Observational Scale for Infants (AOSI) at 12 months of age in offspring. The DMRs clustered near genes involved in developmental processes, including many genes in the SNORD family, within the Prader-Willi syndrome gene cluster. These results were consistent among the 75 probes on the Illumina 450K array that cover AOSI-associated DMRs from CHARM. Further, 18 of 75 (24%) 450K array probes showed consistent differences in the cerebellums of autistic individuals compared with controls. These data suggest that epigenetic differences in paternal sperm may contribute to autism risk in

  9. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation.

    Science.gov (United States)

    Nagarajan, Raman P; Hogart, Amber R; Gwye, Ynnez; Martin, Michelle R; LaSalle, Janine M

    2006-01-01

    Mutations in MECP2, encoding methyl CpG binding protein 2 (MeCP2), cause most cases of Rett syndrome (RTT), an X-linked neurodevelopmental disorder. Both RTT and autism are "pervasive developmental disorders" and share a loss of social, cognitive and language skills and a gain in repetitive stereotyped behavior, following apparently normal perinatal development. Although MECP2 coding mutations are a rare cause of autism, MeCP2 expression defects were previously found in autism brain. To further study the role of MeCP2 in autism spectrum disorders (ASDs), we determined the frequency of MeCP2 expression defects in brain samples from autism and other ASDs. We also tested the hypotheses that MECP2 promoter mutations or aberrant promoter methylation correlate with reduced expression in cases of idiopathic autism. MeCP2 immunofluorescence in autism and other neurodevelopmental disorders was quantified by laser scanning cytometry and compared with control postmortem cerebral cortex samples on a large tissue microarray. A significant reduction in MeCP2 expression compared to age-matched controls was found in 11/14 autism (79%), 9/9 RTT (100%), 4/4 Angelman syndrome (100%), 3/4 Prader-Willi syndrome (75%), 3/5 Down syndrome (60%), and 2/2 attention deficit hyperactivity disorder (100%) frontal cortex samples. One autism female was heterozygous for a rare MECP2 promoter variant that correlated with reduced MeCP2 expression. A more frequent occurrence was significantly increased MECP2 promoter methylation in autism male frontal cortex compared to controls. Furthermore, percent promoter methylation of MECP2 significantly correlated with reduced MeCP2 protein expression. These results suggest that both genetic and epigenetic defects lead to reduced MeCP2 expression and may be important in the complex etiology of autism.

  10. Hydroxyurea inhibits parvovirus B19 replication in erythroid progenitor cells.

    Science.gov (United States)

    Bonvicini, Francesca; Bua, Gloria; Conti, Ilaria; Manaresi, Elisabetta; Gallinella, Giorgio

    2017-07-15

    Parvovirus B19 (B19V) infection is restricted to erythroid progenitor cells (EPCs) of the human bone marrow, leading to transient arrest of erythropoiesis and severe complications mainly in subjects with underlying hematological disorders or with immune system deficits. Currently, there are no specific antiviral drugs for B19V treatment, but identification of compounds inhibiting B19V replication can be pursued by a drug repositioning strategy. In this frame, the present study investigates the activity of hydroxyurea (HU), the only disease-modifying therapy approved for sickle cell disease (SCD), towards B19V replication in the two relevant cellular systems, the UT7/EpoS1 cell line and EPCs. Results demonstrate that HU inhibits B19V replication with EC 50 values of 96.2µM and 147.1µM in UT7/EpoS1 and EPCs, respectively, providing experimental evidence of the antiviral activity of HU towards B19V replication, and confirming the efficacy of a drug discovery process by drug repositioning strategy. The antiviral activity occurs in vitro at concentrations lower than those affecting cellular DNA replication and viability, and at levels measured in plasma samples of SCD patients undergoing HU therapy. HU might determine a dual beneficial effect on SCD patients, not only for the treatment of the disease but also towards a virus responsible for severe complications. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1 gene polymorphisms and autism in Chinese Han population: a family-based association study

    Directory of Open Access Journals (Sweden)

    Ruan Yan

    2011-05-01

    Full Text Available Abstract Background Disrupted-in-Schizophrenia 1 (DISC1 gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism. Methods We genotyped seven tag single nucleotide polymorphisms (SNPs in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT and Haploview software. Results We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02. After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values. Conclusions Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.

  12. Autism and exergaming: effects on repetitive behaviors and cognition.

    Science.gov (United States)

    Anderson-Hanley, Cay; Tureck, Kimberly; Schneiderman, Robyn L

    2011-01-01

    Autism is a neurodevelopmental disorder that leads to impairment in social skills and delay in language development, and results in repetitive behaviors and restricted interests that impede academic and social involvement. Physical exercise has been shown to decrease repetitive behaviors in autistic children and improve cognitive function across the life-span. Exergaming combines physical and mental exercise simultaneously by linking physical activity movements to video game control and may yield better compliance with exercise. In this investigation, two pilot studies explored the potential behavioral and cognitive benefits of exergaming. In Pilot I, twelve children with autism spectrum disorders completed a control task and an acute bout of Dance Dance Revolution (DDR); in Pilot II, ten additional youths completed an acute bout of cyber cycling. Repetitive behaviors and executive function were measured before and after each activity. Repetitive behaviors significantly decreased, while performance on Digits Backwards improved following the exergaming conditions compared with the control condition. Additional research is needed to replicate these findings, and to explore the application of exergaming for the management of behavioral disturbance and to increase cognitive control in children on the autism spectrum.

  13. Variation: Use It or Misuse It--Replication and Its Variants

    Science.gov (United States)

    Drummond, Gordon B.; Vowler, Sarah L.

    2012-01-01

    In this article, the authors talk about variation and how variation between measurements may be reduced if sampling is not random. They also talk about replication and its variants. A replicate is a repeated measurement from the same experimental unit. An experimental unit is the smallest part of an experiment or a study that can be subject to a…

  14. The mental health of individuals referred for assessment of autism spectrum disorder in adulthood: A clinic report.

    Science.gov (United States)

    Russell, Ailsa J; Murphy, Clodagh M; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M; Craig, Michael C; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M; Spain, Deborah; Murphy, Declan Gm

    2016-07-01

    Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric co-morbidity in autism spectrum disorder remain unclear. A retrospective case review of 859 adults referred for assessment of autism spectrum disorder compares International Classification of Diseases, Tenth Revision diagnoses in those that met criteria for autism spectrum disorder (n = 474) with those that did not (n = 385). Rates of psychiatric diagnosis (>57%) were equivalent across both groups and exceeded general population rates for a number of conditions. The prevalence of anxiety disorders, particularly obsessive compulsive disorder, was significantly higher in adults with autism spectrum disorder than adults without autism spectrum disorder. Limitations of this observational clinic study, which may impact generalisability of the findings, include the lack of standardised structured psychiatric diagnostic assessments by assessors blind to autism spectrum disorder diagnosis and inter-rater reliability. The implications of this study highlight the need for careful consideration of mental health needs in all adults referred for autism spectrum disorder diagnosis. © The Author(s) 2015.

  15. Language and Speech in Autism.

    Science.gov (United States)

    Gernsbacher, Morton Ann; Morson, Emily M; Grace, Elizabeth J

    2016-01-01

    Autism is a developmental disability characterized by atypical social interaction, interests or body movements, and communication. Our review examines the empirical status of three communication phenomena believed to be unique to autism: pronoun reversal (using the pronoun you when the pronoun I is intended, and vice versa), echolalia (repeating what someone has said), and a reduced or even reversed production-comprehension lag (a reduction or reversal of the well-established finding that speakers produce less sophisticated language than they can comprehend). Each of these three phenomena has been claimed to be unique to autism; therefore, each has been proposed to be diagnostic of autism, and each has been interpreted in autism-centric ways (psychoanalytic interpretations of pronoun reversal, behaviorist interpretations of echolalia, and clinical lore about the production-comprehension lag). However, as our review demonstrates, none of these three phenomena is in fact unique to autism; none can or should serve as diagnostic of autism, and all call into question unwarranted assumptions about autistic persons and their language development and use.

  16. Increasing autism prevalence in metropolitan New Jersey.

    Science.gov (United States)

    Zahorodny, Walter; Shenouda, Josephine; Howell, Sandra; Rosato, Nancy Scotto; Peng, Bo; Mehta, Uday

    2014-02-01

    High baseline autism spectrum disorder prevalence estimates in New Jersey led to a follow-up surveillance. The objectives were to determine autism spectrum disorder prevalence in the year 2006 in New Jersey and to identify changes in the prevalence of autism spectrum disorder or in the characteristics of the children with autism spectrum disorder, between 2002 and 2006. The cohorts included 30,570 children, born in 1998 and 28,936 children, born in 1994, residing in Hudson, Union, and Ocean counties, New Jersey. Point prevalence estimates by sex, ethnicity, autism spectrum disorder subtype, and previous autism spectrum disorder diagnosis were determined. For 2006, a total of 533 children with autism spectrum disorder were identified, consistent with prevalence of 17.4 per 1000 (95% confidence interval = 15.9-18.9), indicating a significant increase in the autism spectrum disorder prevalence (p autism spectrum disorder was broad, affecting major demographic groups and subtypes. Boys with autism spectrum disorder outnumbered girls by nearly 5:1. Autism spectrum disorder prevalence was higher among White children than children of other ethnicities. Additional studies are needed to specify the influence of better awareness of autism spectrum disorder prevalence estimates and to identify possible autism spectrum disorder risk factors. More resources are necessary to address the needs of individuals affected by autism spectrum disorder.

  17. Can Asperger syndrome be distinguished from autism? An anatomic likelihood meta-analysis of MRI studies.

    Science.gov (United States)

    Yu, Kevin K; Cheung, Charlton; Chua, Siew E; McAlonan, Gráinne M

    2011-11-01

    The question of whether Asperger syndrome can be distinguished from autism has attracted much debate and may even incur delay in diagnosis and intervention. Accordingly, there has been a proposal for Asperger syndrome to be subsumed under autism in the forthcoming Diagnostic and Statistical Manual of Mental Disorders, fifth edition, in 2013. One approach to resolve this question has been to adopt the criterion of absence of clinically significant language or cognitive delay--essentially, the "absence of language delay." To our knowledge, this is the first meta-analysis of magnetic resonance imaging (MRI) studies of people with autism to compare absence with presence of language delay. It capitalizes on the voxel-based morphometry (VBM) approach to systematically explore the whole brain for anatomic correlates of delay and no delay in language acquisition in people with autism spectrum disorders. We conducted a systematic search for VBM MRI studies of grey matter volume in people with autism. Studies with a majority (at least 70%) of participants with autism diagnoses and a history of language delay were assigned to the autism group (n = 151, control n = 190). Those with a majority (at least 70%) of individuals with autism diagnoses and no language delay were assigned to the Asperger syndrome group (n = 149, control n = 214). We entered study coordinates into anatomic likelihood estimation meta-analysis software with sampling size weighting to compare grey matter summary maps driven by Asperger syndrome or autism. The summary autism grey matter map showed lower volumes in the cerebellum, right uncus, dorsal hippocampus and middle temporal gyrus compared with controls; grey matter volumes were greater in the bilateral caudate, prefrontal lobe and ventral temporal lobe. The summary Asperger syndrome map indicated lower grey matter volumes in the bilateral amygdala/hippocampal gyrus and prefrontal lobe, left occipital gyrus, right cerebellum, putamen and precuneus

  18. Overcoming natural replication barriers: differential helicase requirements.

    Science.gov (United States)

    Anand, Ranjith P; Shah, Kartik A; Niu, Hengyao; Sung, Patrick; Mirkin, Sergei M; Freudenreich, Catherine H

    2012-02-01

    DNA sequences that form secondary structures or bind protein complexes are known barriers to replication and potential inducers of genome instability. In order to determine which helicases facilitate DNA replication across these barriers, we analyzed fork progression through them in wild-type and mutant yeast cells, using 2-dimensional gel-electrophoretic analysis of the replication intermediates. We show that the Srs2 protein facilitates replication of hairpin-forming CGG/CCG repeats and prevents chromosome fragility at the repeat, whereas it does not affect replication of G-quadruplex forming sequences or a protein-bound repeat. Srs2 helicase activity is required for hairpin unwinding and fork progression. Also, the PCNA binding domain of Srs2 is required for its in vivo role of replication through hairpins. In contrast, the absence of Sgs1 or Pif1 helicases did not inhibit replication through structural barriers, though Pif1 did facilitate replication of a telomeric protein barrier. Interestingly, replication through a protein barrier but not a DNA structure barrier was modulated by nucleotide pool levels, illuminating a different mechanism by which cells can regulate fork progression through protein-mediated stall sites. Our analyses reveal fundamental differences in the replication of DNA structural versus protein barriers, with Srs2 helicase activity exclusively required for fork progression through hairpin structures.

  19. Normal movement selectivity in autism.

    Science.gov (United States)

    Dinstein, Ilan; Thomas, Cibu; Humphreys, Kate; Minshew, Nancy; Behrmann, Marlene; Heeger, David J

    2010-05-13

    It has been proposed that individuals with autism have difficulties understanding the goals and intentions of others because of a fundamental dysfunction in the mirror neuron system. Here, however, we show that individuals with autism exhibited not only normal fMRI responses in mirror system areas during observation and execution of hand movements but also exhibited typical movement-selective adaptation (repetition suppression) when observing or executing the same movement repeatedly. Movement selectivity is a defining characteristic of neurons involved in movement perception, including mirror neurons, and, as such, these findings argue against a mirror system dysfunction in autism. Copyright 2010 Elsevier Inc. All rights reserved.

  20. Autism and Related Disorders

    Science.gov (United States)

    McPartland, James; Volkmar, Fred R.

    2012-01-01

    The Pervasive Developmental Disorders are a group of neurodevelopmental disorders that include Autistic Disorder, Asperger’s Disorder, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), Childhood Disintegrative Disorder (CDD), and Rett’s Disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (Autistic Disorder, Asperger’s Disorder, and PDD-NOS) are currently referred to as Autism Spectrum Disorders, reflecting divergent phenotypic and etiologic characteristics compared to Rett’s Disorder and CDD. This chapter reviews relevant research and clinical information relevant to appropriate medical diagnosis and treatment. PMID:22608634

  1. A meta-analysis of the social communication questionnaire: Screening for autism spectrum disorder.

    Science.gov (United States)

    Chesnut, Steven R; Wei, Tianlan; Barnard-Brak, Lucy; Richman, David M

    2017-11-01

    The current meta-analysis examines the previous research on the utility of the Social Communication Questionnaire as a screening instrument for autism spectrum disorder. Previously published reports have highlighted the inconsistencies between Social Communication Questionnaire-screening results and formal autism spectrum disorder diagnoses. The variations in accuracy resulted in some researchers questioning the validity of the Social Communication Questionnaire. This study systematically examined the accuracy of the Social Communication Questionnaire as a function of the methodological decisions made by researchers screening for autism spectrum disorder over the last 15 years. Findings from this study suggest that the Social Communication Questionnaire is an acceptable screening instrument for autism spectrum disorder (area under the curve = 0.885). Variations in methodological decisions, however, greatly influenced the accuracy of the Social Communication Questionnaire in screening for autism spectrum disorder. Of these methodological variations, using the Current instead of the Lifetime version of the Social Communication Questionnaire resulted in the largest detrimental effect ( d = -3.898), followed by using the Social Communication Questionnaire with individuals younger than 4 years of age ( d = -2.924) and relying upon convenience samples ( d = -4.828 for clinical samples, -2.734 for convenience samples, and -1.422 for community samples). Directions for future research and implications for using the Social Communication Questionnaire to screen for autism spectrum disorder are discussed.

  2. Systematic reconstruction of autism biology from massive genetic mutation profiles.

    Science.gov (United States)

    Luo, Weijun; Zhang, Chaolin; Jiang, Yong-Hui; Brouwer, Cory R

    2018-04-01

    Autism spectrum disorder (ASD) affects 1% of world population and has become a pressing medical and social problem worldwide. As a paradigmatic complex genetic disease, ASD has been intensively studied and thousands of gene mutations have been reported. Because these mutations rarely recur, it is difficult to (i) pinpoint the fewer disease-causing versus majority random events and (ii) replicate or verify independent studies. A coherent and systematic understanding of autism biology has not been achieved. We analyzed 3392 and 4792 autism-related mutations from two large-scale whole-exome studies across multiple resolution levels, that is, variants (single-nucleotide), genes (protein-coding unit), and pathways (molecular module). These mutations do not recur or replicate at the variant level, but significantly and increasingly do so at gene and pathway levels. Genetic association reveals a novel gene + pathway dual-hit model, where the mutation burden becomes less relevant. In multiple independent analyses, hundreds of variants or genes repeatedly converge to several canonical pathways, either novel or literature-supported. These pathways define recurrent and systematic ASD biology, distinct from previously reported gene groups or networks. They also present a catalog of novel ASD risk factors including 118 variants and 72 genes. At a subpathway level, most variants disrupt the pathway-related gene functions, and in the same gene, they tend to hit residues extremely close to each other and in the same domain. Multiple interacting variants spotlight key modules, including the cAMP (adenosine 3',5'-monophosphate) second-messenger system and mGluR (metabotropic glutamate receptor) signaling regulation by GRKs (G protein-coupled receptor kinases). At a superpathway level, distinct pathways further interconnect and converge to three biology themes: synaptic function, morphology, and plasticity.

  3. Surface micro topography replication in injection moulding

    DEFF Research Database (Denmark)

    Arlø, Uffe Rolf

    Thermoplastic injection moulding is a widely used industrial process that involves surface generation by replication. The surface topography of injection moulded plastic parts can be important for aesthetical or technical reasons. With the emergence of microengineering and nanotechnology additional...... importance of surface topography follows. In general the replication is not perfect and the topography of the plastic part differs from the inverse topography of the mould cavity. It is desirable to be able to control the degree of replication perfection or replication quality. This requires an understanding...... of the physical mechanisms of replication. Such understanding can lead to improved process design and facilitate in-line process quality control with respect to surface properties. The purpose of the project is to identify critical factors that affect topography replication quality and to obtain an understanding...

  4. Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence

    Directory of Open Access Journals (Sweden)

    Lingjun Zuo

    2016-11-01

    Full Text Available It has been hypothesized that the nicotinic acetylcholine receptors (nAChRs play important roles in nicotine dependence (ND and influence the number of cigarettes smoked per day (CPD in smokers. We compiled the associations between nicotinic cholinergic receptor genes (CHRNs and ND/CPD that were replicated across different studies, reviewed the expression of these risk genes in human/mouse brains, and verified their expression using independent samples of both human and mouse brains. The potential functions of the replicated risk variants were examined using cis-eQTL analysis or predicted using a series of bioinformatics analyses. We found replicated and significant associations for ND/CPD at 19 SNPs in six genes in three genomic regions (CHRNB3-A6, CHRNA5-A3-B4 and CHRNA4. These six risk genes are expressed in at least 18 distinct areas of the human/mouse brain, with verification in our independent human and mouse brain samples. The risk variants might influence the transcription, expression and splicing of the risk genes, alter RNA secondary or protein structure. We conclude that the replicated associations between CHRNB3-A6, CHRNA5-A3-B4, CHRNA4 and ND/CPD are very robust. More research is needed to examine how these genetic variants contribute to the risk for ND/CPD.

  5. Association of ADHD, tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder.

    Science.gov (United States)

    Gadow, Kenneth D; Roohi, Jasmin; DeVincent, Carla J; Hatchwell, Eli

    2008-12-01

    Autism spectrum disorder (ASD) is associated with high rates of psychiatric disturbance to include attention-deficit/hyperactivity disorder (ADHD), tic disorder, and anxiety disorders. The aim of the present study was to examine the association between a variable number tandem repeat (VNTR) functional polymorphism located in the 3'-untranslated region of the dopamine transporter gene (DAT1) and the severity of these symptoms as well as the association between the DAT1 DdeI polymorphism and severity of tics. Parents (n = 62) and teachers (n = 57) completed a DSM-IV-referenced rating scale for 67 children with ASD. According to parent ratings, children with the 10-10 repeat allele (versus a combined group of all other genotypes) exhibited less severe symptoms of hyperactivity and impulsivity as well as less severe language deficits. Teacher ratings indicated that social anxiety and tic symptoms were more severe for children with the 10-10 genotype versus all others. Exploratory analyses provided preliminary support for the notion that heterozygosity (9-10 repeat genotype) may be a risk/protective factor. There were no associations of tic severity with the DAT1 DdeI polymorphism. Collectively, these results suggest that the extraordinary variability in ASD clinical phenotypes may be explained in part by the same genes that are implicated in a host of other psychiatric disorders in non-ASD populations. Nevertheless, replication with independent samples is necessary to confirm this preliminary finding.

  6. Replicating chromatin: a tale of histones

    DEFF Research Database (Denmark)

    Groth, Anja

    2009-01-01

    Chromatin serves structural and functional roles crucial for genome stability and correct gene expression. This organization must be reproduced on daughter strands during replication to maintain proper overlay of epigenetic fabric onto genetic sequence. Nucleosomes constitute the structural...... framework of chromatin and carry information to specify higher-order organization and gene expression. When replication forks traverse the chromosomes, nucleosomes are transiently disrupted, allowing the replication machinery to gain access to DNA. Histone recycling, together with new deposition, ensures...

  7. Enzymatic recognition of DNA replication origins

    International Nuclear Information System (INIS)

    Stayton, M.M.; Bertsch, L.; Biswas, S.

    1983-01-01

    In this paper we discuss the process of recognition of the complementary-strand origin with emphasis on RNA polymerase action in priming M13 DNA replication, the role of primase in G4 DNA replication, and the function of protein n, a priming protein, during primosome assembly. These phage systems do not require several of the bacterial DNA replication enzymes, particularly those involved in the regulation of chromosome copy number of the initiatiion of replication of duplex DNA. 51 references, 13 figures, 1 table

  8. Rethinking language in autism.

    Science.gov (United States)

    Sterponi, Laura; de Kirby, Kenton; Shankey, Jennifer

    2015-07-01

    In this article, we invite a rethinking of traditional perspectives of language in autism. We advocate a theoretical reappraisal that offers a corrective to the dominant and largely tacitly held view that language, in its essence, is a referential system and a reflection of the individual's cognition. Drawing on scholarship in Conversation Analysis and linguistic anthropology, we present a multidimensional view of language, showing how it also functions as interactional accomplishment, social action, and mode of experience. From such a multidimensional perspective, we revisit data presented by other researchers that include instances of prototypical features of autistic speech, giving them a somewhat different-at times complementary, at times alternative-interpretation. In doing so, we demonstrate that there is much at stake in the view of language that we as researchers bring to our analysis of autistic speech. Ultimately, we argue that adopting a multidimensional view of language has wide ranging implications, deepening our understanding of autism's core features and developmental trajectory. © The Author(s) 2014.

  9. Rating parent-child interactions: joint engagement, communication dynamics, and shared topics in autism, Down syndrome, and typical development.

    Science.gov (United States)

    Adamson, Lauren B; Bakeman, Roger; Deckner, Deborah F; Nelson, P Brooke

    2012-12-01

    A battery of 17 rating items were applied to video records of typically-developing toddlers and young children with autism and Down syndrome interacting with their parents during the Communication Play Protocol. This battery provided a reliable and broad view of the joint engagement triad of child, partner, and shared topic. Ratings of the child's joint engagement correlated very strongly with state coding of joint engagement and replicated the finding that coordinated joint engagement was less likely in children with autism. Ratings of other child actions, of parent contributions, and of shared topics and communicative dynamics also documented pervasive variations related to diagnosis, language facility, and communicative context.

  10. Family Process - Autism Spectrum Disorders

    OpenAIRE

    Benson, Mark

    2012-01-01

    Slides for a talk about family process and the importance of parenting dimensions in adolescent development. The slides list findings to date, and propose research into the influence of family on outcomes for those diagnosed with an autism spectrum disorder.

  11. IMUNODIAGNOSTIC AND IMMUNOTHERAPY OF AUTISM

    Directory of Open Access Journals (Sweden)

    Vladimir TRAJKOVSKI

    2000-06-01

    Full Text Available Infantile autism is one of the most disabling illnesses of neurological, emotional and intellectual development. The cause of autism remains unknown. However, recent investigations suggest that this disorder shares several features of established autoimmune disorders.The aim of this article is to describe the news of imunodiagnostic and immunotherapy in autism. Interpretation of data is made by conceptual and methodological differences between studies. The autoimmune response is most likely directed against the brain myelin, perhaps secondary to a viral infection. The idea that autism is an autoimmune disorder is further strengthened by the fact that autistic patients respond well to treatment with immune modulating drugs. Immune interventions can produce immune modulation-state of suppression or stimulation. Immune therapy should always be done in consultation with physicians.

  12. Social demographic change and autism.

    Science.gov (United States)

    Liu, Kayuet; Zerubavel, Noam; Bearman, Peter

    2010-05-01

    Parental age at child's birth--which has increased for U.S. children in the 1992-2000 birth cohorts--is strongly associated with an increased risk of autism. By turning a social demographic lens on the historical patterning of concordance among twin pairs, we identify a central mechanism for this association: de novo mutations, which are deletions, insertions, and duplications of DNA in the germ cells that are not present in the parents' DNA. Along the way, we show that a demographic eye on the rising prevalence of autism leads to three major discoveries. First, the estimated heritability of autism has been dramatically overstated. Second, heritability estimates can change over remarkably short periods of time because of increases in germ cell mutations. Third, social demographic change can yield genetic changes that, at the population level, combine to contribute to the increased prevalence of autism.

  13. Autismo: neuroimagem Autism: neuroimaging

    Directory of Open Access Journals (Sweden)

    Mônica Zilbovicius

    2006-05-01

    Full Text Available O autismo é um transtorno de neurodesenvolvimento com diversas apresentações clínicas. Essas apresentações variam em gravidade (leves a graves e são denominadas transtornos do espectro do autismo. O sinal mais comum aos transtornos desse espectro é o déficit de interação social, que está associado a déficits de comunicação verbal e não-verbal e a comportamentos estereotipados e repetitivos. Graças a estudos recentes que utilizam métodos de imagem cerebral, os cientistas obtiveram uma idéia melhor dos circuitos neurais envolvidos nos transtornos do espectro do autismo. De fato, os exames de imagem cerebral funcionais, como tomografia por emissão de pósitrons, tomografia por emissão de fóton único e ressonância magnética funcional abriram uma nova perspectiva para o estudo do funcionamento cerebral normal e patológico. Três estudos independentes encontraram anormalidades da anatomia e do funcionamento em repouso do lobo temporal em pacientes autistas. Essas alterações estão localizadas bilateralmente nos sulcos temporais superiores. Essa região anatômica é de grande importância para a percepção de estímulos sociais essenciais. Além disso, estudos funcionais demonstraram hipoativação da maior parte das áreas envolvidas na percepção social (percepção de faces e voz e cognição social (teoria da mente. Esses dados sugerem um funcionamento anormal da rede de pensamentos do cérebro social no autismo. A compreensão das alterações nesse importante mecanismo pode estimular a elaboração de novas e mais adequadas estratégias sociais de reeducação para pacientes autistas.Autism is a neurodevelopmental disorder with a range of clinical presentations. These presentations vary from mild to severe and are referred to as autism spectrum disorders. The most common clinical sign of autism spectrum disorders is social interaction impairment, which is associated with verbal and non-verbal communication deficits

  14. Absence of sex differences in mental rotation performance in autism spectrum disorder.

    Science.gov (United States)

    Rohde, Melanie S; Georgescu, Alexandra L; Vogeley, Kai; Fimmers, Rolf; Falter-Wagner, Christine M

    2017-08-01

    Mental rotation is one of the most investigated cognitive functions showing consistent sex differences. The 'Extreme Male Brain' hypothesis attributes the cognitive profile of individuals with autism spectrum disorder to an extreme version of the male cognitive profile. Previous investigations focused almost exclusively on males with autism spectrum disorder with only limited implications for affected females. This study is the first testing a sample of 12 female adults with high-functioning autism spectrum disorder compared to 14 males with autism spectrum disorder, 12 typically developing females and 14 typically developing males employing a computerised version of the mental rotation test. Reaction time and accuracy served as dependent variables. Their linear relationship with degree of rotation allows separation of rotational aspects of the task, indicated by slopes of the psychometric function, and non-rotational aspects, indicated by intercepts of the psychometric function. While the typical and expected sex difference for rotational task aspects was corroborated in typically developing individuals, no comparable sex difference was found in autism spectrum disorder individuals. Autism spectrum disorder and typically developing individuals did not differ in mental rotation performance. This finding does not support the extreme male brain hypothesis of autism.

  15. The motivation for very early intervention for infants at high risk for autism spectrum disorders.

    Science.gov (United States)

    Webb, Sara Jane; Jones, Emily J H; Kelly, Jean; Dawson, Geraldine

    2014-02-01

    The first Autism Research Matrix (IACC, 2003) listed the identification of behavioural and biological markers of risk for autism as a top priority. This emphasis was based on the hypothesis that intervention with infants at-risk, at an early age when the brain is developing and before core autism symptoms have emerged, could significantly alter the developmental trajectory of children at risk for the disorder and impact long-range outcome. Research has provided support for specific models of early autism intervention (e.g., Early Start Denver Model) for improving outcomes in young children with autism, based on both behavioural and brain activity measures. Although great strides have been made in ability to identify risk markers for autism in younger infant/toddler samples, how and when to intervene during the prodromal state remains a critical question. Emerging evidence suggests that abnormal brain circuitry in autism precedes altered social behaviours; thus, an intervention designed to promote early social engagement and reciprocity potentially could steer brain development back toward the normal trajectory and remit or reduce the expression of symptoms.

  16. The familial risk of autism.

    Science.gov (United States)

    Sandin, Sven; Lichtenstein, Paul; Kuja-Halkola, Ralf; Larsson, Henrik; Hultman, Christina M; Reichenberg, Abraham

    2014-05-07

    Autism spectrum disorder (ASD) aggregates in families, but the individual risk and to what extent this is caused by genetic factors or shared or nonshared environmental factors remains unresolved. To provide estimates of familial aggregation and heritability of ASD. A population-based cohort including 2,049,973 Swedish children born 1982 through 2006. We identified 37,570 twin pairs, 2,642,064 full sibling pairs, 432,281 maternal and 445,531 paternal half sibling pairs, and 5,799,875 cousin pairs. Diagnoses of ASD to December 31, 2009 were ascertained. The relative recurrence risk (RRR) measures familial aggregation of disease. The RRR is the relative risk of autism in a participant with a sibling or cousin who has the diagnosis (exposed) compared with the risk in a participant with no diagnosed family member (unexposed). We calculated RRR for both ASD and autistic disorder adjusting for age, birth year, sex, parental psychiatric history, and parental age. We estimated how much of the probability of developing ASD can be related to genetic (additive and dominant) and environmental (shared and nonshared) factors. In the sample, 14,516 children were diagnosed with ASD, of whom 5689 had autistic disorder. The RRR and rate per 100,000 person-years for ASD among monozygotic twins was estimated to be 153.0 (95% CI, 56.7-412.8; rate, 6274 for exposed vs 27 for unexposed ); for dizygotic twins, 8.2 (95% CI, 3.7-18.1; rate, 805 for exposed vs 55 for unexposed); for full siblings, 10.3 (95% CI, 9.4-11.3; rate, 829 for exposed vs 49 for unexposed); for maternal half siblings, 3.3 (95% CI, 2.6-4.2; rate, 492 for exposed vs 94 for unexposed); for paternal half siblings, 2.9 (95% CI, 2.2-3.7; rate, 371 for exposed vs 85 for unexposed); and for cousins, 2.0 (95% CI, 1.8-2.2; rate, 155 for exposed vs 49 for unexposed). The RRR pattern was similar for autistic disorder but of slightly higher magnitude.We found support for a disease etiology including only additive genetic and

  17. Autism and the Good Life

    DEFF Research Database (Denmark)

    Rodogno, Raffaele; Krause-Jensen, Katrine; Ashcroft, Richard

    2016-01-01

    that, as it stands, the current approach to the study of well-being is for the most part unable to answer these questions. In particular, much effort is needed in order to improve the epistemology of well-being, especially so if we wish this epistemology to be ‘autism-sensitive.’ Towards the end...... of the paper, we sketch a new, autism-sensitive approach and apply it in order to begin answering our initial questions....

  18. Normal Movement Selectivity in Autism

    OpenAIRE

    Dinstein, Ilan; Thomas, Cibu; Humphreys, Kate; Minshew, Nancy; Behrmann, Marlene; Heeger, David J.

    2010-01-01

    It has been proposed that individuals with autism have difficulties understanding the goals and intentions of others because of a fundamental dysfunction in the mirror neuron system. Here, however, we show that individuals with autism exhibited not only normal fMRI responses in mirror system areas during observation and execution of hand movements, but also exhibited typical movement-selective adaptation (repetition suppression) when observing or executing the same movement repeatedly. Moveme...

  19. Replicative Intermediates of Human Papillomavirus Type 11 in Laryngeal Papillomas: Site of Replication Initiation and Direction of Replication

    Science.gov (United States)

    Auborn, K. J.; Little, R. D.; Platt, T. H. K.; Vaccariello, M. A.; Schildkraut, C. L.

    1994-07-01

    We have examined the structures of replication intermediates from the human papillomavirus type 11 genome in DNA extracted from papilloma lesions (laryngeal papillomas). The sites of replication initiation and termination utilized in vivo were mapped by using neutral/neutral and neutral/alkaline two-dimensional agarose gel electrophoresis methods. Initiation of replication was detected in or very close to the upstream regulatory region (URR; the noncoding, regulatory sequences upstream of the open reading frames in the papillomavirus genome). We also show that replication forks proceed bidirectionally from the origin and converge 180circ opposite the URR. These results demonstrate the feasibility of analysis of replication of viral genomes directly from infected tissue.

  20. Complex epigenetic regulation of engrailed-2 (EN-2) homeobox gene in the autism cerebellum.

    Science.gov (United States)

    James, S J; Shpyleva, Svitlana; Melnyk, Stepan; Pavliv, Oleksandra; Pogribny, I P

    2013-02-19

    The elucidation of epigenetic alterations in the autism brain has potential to provide new insights into the molecular mechanisms underlying abnormal gene expression in this disorder. Given strong evidence that engrailed-2 (EN-2) is a developmentally expressed gene relevant to cerebellar abnormalities and autism, the epigenetic evaluation of this candidate gene was undertaken in 26 case and control post-mortem cerebellar samples. Assessments included global DNA methylation, EN-2 promoter methylation, EN-2 gene expression and EN-2 protein levels. Chromatin immunoprecipitation was used to evaluate trimethylation status of histone H3 lysine 27 (H3K27) associated with gene downregulation and histone H3 lysine 4 (H3K4) associated with gene activation. The results revealed an unusual pattern of global and EN-2 promoter region DNA hypermethylation accompanied by significant increases in EN-2 gene expression and protein levels. Consistent with EN-2 overexpression, histone H3K27 trimethylation mark in the EN-2 promoter was significantly decreased in the autism samples relative to matched controls. Supporting a link between reduced histone H3K27 trimethylation and increased EN-2 gene expression, the mean level of histone H3K4 trimethylation was elevated in the autism cerebellar samples. Together, these results suggest that the normal EN-2 downregulation that signals Purkinje cell maturation during late prenatal and early-postnatal development may not have occurred in some individuals with autism and that the postnatal persistence of EN-2 overexpression may contribute to autism cerebellar abnormalities.

  1. Activation of human herpesvirus replication by apoptosis.

    Science.gov (United States)

    Prasad, Alka; Remick, Jill; Zeichner, Steven L

    2013-10-01

    A central feature of herpesvirus biology is the ability of herpesviruses to remain latent within host cells. Classically, exposure to inducing agents, like activating cytokines or phorbol esters that stimulate host cell signal transduction events, and epigenetic agents (e.g., butyrate) was thought to end latency. We recently showed that Kaposi's sarcoma-associated herpesvirus (KSHV, or human herpesvirus-8 [HHV-8]) has another, alternative emergency escape replication pathway that is triggered when KSHV's host cell undergoes apoptosis, characterized by the lack of a requirement for the replication and transcription activator (RTA) protein, accelerated late gene kinetics, and production of virus with decreased infectivity. Caspase-3 is necessary and sufficient to initiate the alternative replication program. HSV-1 was also recently shown to initiate replication in response to host cell apoptosis. These observations suggested that an alternative apoptosis-triggered replication program might be a general feature of herpesvirus biology and that apoptosis-initiated herpesvirus replication may have clinical implications, particularly for herpesviruses that almost universally infect humans. To explore whether an alternative apoptosis-initiated replication program is a common feature of herpesvirus biology, we studied cell lines latently infected with Epstein-Barr virus/HHV-4, HHV-6A, HHV-6B, HHV-7, and KSHV. We found that apoptosis triggers replication for each HHV studied, with caspase-3 being necessary and sufficient for HHV replication. An alternative apoptosis-initiated replication program appears to be a common feature of HHV biology. We also found that commonly used cytotoxic chemotherapeutic agents activate HHV replication, which suggests that treatments that promote apoptosis may lead to activation of latent herpesviruses, with potential clinical significance.

  2. Biomarkers for Autism and for Gastrointestinal and Sleep Problems in Autism

    Science.gov (United States)

    2015-12-01

    Award Number: W81XWH-10-1-0889 TITLE: Biomarkers for Autism and for Gastrointestinal and Sleep Problems in Autism PRINCIPAL INVESTIGATOR...29Sep2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER AR093240 Biomarkers for Autism and for Gastrointestinal and Sleep Problems in Autism 5b. GRANT NUMBER...and daytime excretions of melatonin sulfate were not significantly different between typically developing (TD) toddlers and toddlers with autism

  3. Genetics Home Reference: autism spectrum disorder

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions ASD Autism spectrum disorder Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Autism spectrum disorder ( ASD ) is a condition that appears very early ...

  4. Prenatal Inflammation Linked to Autism Risk

    Science.gov (United States)

    ... Thursday, January 24, 2013 Prenatal inflammation linked to autism risk Maternal inflammation during early pregnancy may be related to an increased risk of autism in children, according to new findings supported by ...

  5. Autism Spectrum Disorder and Mitochondrial Disease

    Science.gov (United States)

    ... Search Form Controls Cancel Submit Search the CDC Autism Spectrum Disorder (ASD) Note: Javascript is disabled or is not ... with a mitochondrial disease: may also have an autism spectrum disorder, may have some of the symptoms/signs of ...

  6. Autism Spectrum Disorder (ASD): Related Topics

    Science.gov (United States)

    ... Facebook Tweet Share Compartir Q: Do vaccines cause autism spectrum disorder (ASD)? A: Many studies that have looked at whether there is a relationship between vaccines and autism spectrum disorder (ASD). To date, the studies continue to show ...

  7. Symptomatic Autism in Childhood and Adolescence

    Science.gov (United States)

    Easson, William M.

    1971-01-01

    The frequency of symptomatic autism in children with severe perceptual or intellectual handicaps is noted and early diagnosis and treatment urged to permit healthy child development. Highlighted are some common causes leading to symptomatic autism. (KW)

  8. DNA replication and cancer: From dysfunctional replication origin activities to therapeutic opportunities.

    Science.gov (United States)

    Boyer, Anne-Sophie; Walter, David; Sørensen, Claus Storgaard

    2016-06-01

    A dividing cell has to duplicate its DNA precisely once during the cell cycle to preserve genome integrity avoiding the accumulation of genetic aberrations that promote diseases such as cancer. A large number of endogenous impacts can challenge DNA replication and cells harbor a battery of pathways to promote genome integrity during DNA replication. This includes suppressing new replication origin firing, stabilization of replicating forks, and the safe restart of forks to prevent any loss of genetic information. Here, we describe mechanisms by which oncogenes can interfere with DNA replication thereby causing DNA replication stress and genome instability. Further, we describe cellular and systemic responses to these insults with a focus on DNA replication restart pathways. Finally, we discuss the therapeutic potential of exploiting intrinsic replicative stress in cancer cells for targeted therapy. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Picture Exchange Communication System and Pals: A Peer-Mediated Augmentative and Alternative Communication Intervention for Minimally Verbal Preschoolers with Autism

    Science.gov (United States)

    Thiemann-Bourque, Kathy; Brady, Nancy; McGuff, Sara; Strump, Keenan; Naylor, Amy

    2016-01-01

    Purpose: This study was conducted to investigate the effectiveness of a social intervention that integrates peer-mediated approaches and the Picture Exchange Communication System (PECS). Method: Effects were evaluated using a series of A-B designs replicated across 4 children with severe autism and limited verbal skills. Seven peers without…

  10. The social brain network and autism.

    Science.gov (United States)

    Misra, Vivek

    2014-04-01

    Available research data in Autism suggests the role of a network of brain areas, often known as the 'social brain'. Recent studies highlight the role of genetic mutations as underlying patho-mechanism in Autism. This mini review, discusses the basic concepts behind social brain networks, theory of mind and genetic factors associated with Autism. It critically evaluates and explores the relationship between the behavioral outcomes and genetic factors providing a conceptual framework for understanding of autism.

  11. Prediction Interval: What to Expect When You're Expecting … A Replication.

    Directory of Open Access Journals (Sweden)

    Jeffrey R Spence

    Full Text Available A challenge when interpreting replications is determining whether the results of a replication "successfully" replicate the original study. Looking for consistency between two studies is challenging because individual studies are susceptible to many sources of error that can cause study results to deviate from each other and the population effect in unpredictable directions and magnitudes. In the current paper, we derive methods to compute a prediction interval, a range of results that can be expected in a replication due to chance (i.e., sampling error, for means and commonly used indexes of effect size: correlations and d-values. The prediction interval is calculable based on objective study characteristics (i.e., effect size of the original study and sample sizes of the original study and planned replication even when sample sizes across studies are unequal. The prediction interval provides an a priori method for assessing if the difference between an original and replication result is consistent with what can be expected due to sample error alone. We provide open-source software tools that allow researchers, reviewers, replicators, and editors to easily calculate prediction intervals.

  12. Replication and Robustness in Developmental Research

    Science.gov (United States)

    Duncan, Greg J.; Engel, Mimi; Claessens, Amy; Dowsett, Chantelle J.

    2014-01-01

    Replications and robustness checks are key elements of the scientific method and a staple in many disciplines. However, leading journals in developmental psychology rarely include explicit replications of prior research conducted by different investigators, and few require authors to establish in their articles or online appendices that their key…

  13. Using Replication Projects in Teaching Research Methods

    Science.gov (United States)

    Standing, Lionel G.; Grenier, Manuel; Lane, Erica A.; Roberts, Meigan S.; Sykes, Sarah J.

    2014-01-01

    It is suggested that replication projects may be valuable in teaching research methods, and also address the current need in psychology for more independent verification of published studies. Their use in an undergraduate methods course is described, involving student teams who performed direct replications of four well-known experiments, yielding…

  14. Dynamic behavior of DNA replication domains

    NARCIS (Netherlands)

    Manders, E. M.; Stap, J.; Strackee, J.; van Driel, R.; Aten, J. A.

    1996-01-01

    Like many nuclear processes, DNA replication takes place in distinct domains that are scattered throughout the S-phase nucleus. Recently we have developed a fluorescent double-labeling procedure that allows us to visualize nascent DNA simultaneously with "newborn" DNA that had replicated earlier in

  15. EFFECT OF FAMILY EMPOWERMENT IN ENHANCING THE CAPABILITIES OF CHILDREN WITH AUTISM

    Directory of Open Access Journals (Sweden)

    Suprajitno

    2017-10-01

    Full Text Available Background: Children with autism as individuals have a right to receive developmental needs obtained from parent/caregiver during their stay in the family. The family ability can be improved through empowerment training to provide stimulation for the development of children with autism. Objective: This study aims examine the effect of family empowerment in enhancing the capabilities of children with autism. Methods: The research design used a two-stage quasi-experiment. The first stage was a training for parent/caregiver of children with autism using modules. Training was done three times in the Autism Service Center (PLA of Blitar City. The second stage was the parent/caregiver provided stimulation to their children at home. There were 33 children selected using total sampling in the PLA of Blitar City on April – August, 2016. Data were analyzed using descriptive statistics and paired t-test. Results: The family ability to stimulate the capability of children with autism in the sense of hearing, vision, motoric, and inviting to play obtained average changes of 61.99%, with average items increased from 18.52 to 30.00. While the increase capabilities of children with autism were categorized into five classification: communication, fulfilling of activity daily living, language-numbers–tactile, psychology, and understanding commands. Conclusion: There was a significant effect of family empowerment in enhancing the capabilities of children with autism. Thus, training to improve the ability of parent/caregiver in caring children with autism needs to be implemented in a planned and gradually manner.

  16. Factor Structure, Internal Consistency, and Screening Sensitivity of the GARS-2 in a Developmental Disabilities Sample

    OpenAIRE

    Martin A. Volker; Elissa H. Dua; Christopher Lopata; Marcus L. Thomeer; Jennifer A. Toomey; Audrey M. Smerbeck; Jonathan D. Rodgers; Joshua R. Popkin; Andrew T. Nelson; Gloria K. Lee

    2016-01-01

    The Gilliam Autism Rating Scale-Second Edition (GARS-2) is a widely used screening instrument that assists in the identification and diagnosis of autism. The purpose of this study was to examine the factor structure, internal consistency, and screening sensitivity of the GARS-2 using ratings from special education teaching staff for a sample of 240 individuals with autism or other significant developmental disabilities. Exploratory factor analysis yielded a correlated three-factor solution si...

  17. A Replication by Any Other Name: A Systematic Review of Replicative Intervention Studies

    Science.gov (United States)

    Cook, Bryan G.; Collins, Lauren W.; Cook, Sara C.; Cook, Lysandra

    2016-01-01

    Replication research is essential to scientific knowledge. Reviews of replication studies often electronically search for "replicat*" as a textword, which does not identify studies that replicate previous research but do not self-identify as such. We examined whether the 83 intervention studies published in six non-categorical research…

  18. Recommendations for Replication Research in Special Education: A Framework of Systematic, Conceptual Replications

    Science.gov (United States)

    Coyne, Michael D.; Cook, Bryan G.; Therrien, William J.

    2016-01-01

    Special education researchers conduct studies that can be considered replications. However, they do not often refer to them as replication studies. The purpose of this article is to consider the potential benefits of conceptualizing special education intervention research within a framework of systematic, conceptual replication. Specifically, we…

  19. Surface Microstructure Replication in Injection Moulding

    DEFF Research Database (Denmark)

    Hansen, Hans Nørgaard; Arlø, Uffe Rolf

    2005-01-01

    topography is transcribed onto the plastic part through complex mechanisms. This replication however, is not perfect, and the replication quality depends on the plastic material properties, the topography itself, and the process conditions. This paper describes and discusses an investigation of injection...... moulding of surface microstructures. Emphasis is put on the ability to replicate surface microstructures under normal injection moulding conditions, notably with low cost materials at low mould temperatures. The replication of surface microstructures in injection moulding has been explored...... for Polypropylene at low mould temperatures. The process conditions were varied over the recommended process window for the material. The geometry of the obtained structures was analyzed. Evidence suggests that step height replication quality depends linearly on structure width in a certain range. Further...

  20. Surface microstructure replication in injection molding

    DEFF Research Database (Denmark)

    Theilade, Uffe Arlø; Hansen, Hans Nørgaard

    2006-01-01

    topography is transcribed onto the plastic part through complex mechanisms. This replication, however, is not perfect, and the replication quality depends on the plastic material properties, the topography itself, and the process conditions. This paper describes and discusses an investigation of injection...... molding of surface microstructures. The fundamental problem of surface microstructure replication has been studied. The research is based on specific microstructures as found in lab-on-a-chip products and on rough surfaces generated from EDM (electro discharge machining) mold cavities. Emphasis is put...... on the ability to replicate surface microstructures under normal injection-molding conditions, i.e., with commodity materials within typical process windows. It was found that within typical process windows the replication quality depends significantly on several process parameters, and especially the mold...

  1. Rescue from replication stress during mitosis.

    Science.gov (United States)

    Fragkos, Michalis; Naim, Valeria

    2017-04-03

    Genomic instability is a hallmark of cancer and a common feature of human disorders, characterized by growth defects, neurodegeneration, cancer predisposition, and aging. Recent evidence has shown that DNA replication stress is a major driver of genomic instability and tumorigenesis. Cells can undergo mitosis with under-replicated DNA or unresolved DNA structures, and specific pathways are dedicated to resolving these structures during mitosis, suggesting that mitotic rescue from replication stress (MRRS) is a key process influencing genome stability and cellular homeostasis. Deregulation of MRRS following oncogene activation or loss-of-function of caretaker genes may be the cause of chromosomal aberrations that promote cancer initiation and progression. In this review, we discuss the causes and consequences of replication stress, focusing on its persistence in mitosis as well as the mechanisms and factors involved in its resolution, and the potential impact of incomplete replication or aberrant MRRS on tumorigenesis, aging and disease.

  2. Suppression of Poxvirus Replication by Resveratrol.

    Science.gov (United States)

    Cao, Shuai; Realegeno, Susan; Pant, Anil; Satheshkumar, Panayampalli S; Yang, Zhilong

    2017-01-01

    Poxviruses continue to cause serious diseases even after eradication of the historically deadly infectious human disease, smallpox. Poxviruses are currently being developed as vaccine vectors and cancer therapeutic agents. Resveratrol is a natural polyphenol stilbenoid found in plants that has been shown to inhibit or enhance replication of a number of viruses, but the effect of resveratrol on poxvirus replication is unknown. In the present study, we found that resveratrol dramatically suppressed the replication of vaccinia virus (VACV), the prototypic member of poxviruses, in various cell types. Resveratrol also significantly reduced the replication of monkeypox virus, a zoonotic virus that is endemic in Western and Central Africa and causes human mortality. The inhibitory effect of resveratrol on poxviruses is independent of VACV N1 protein, a potential resveratrol binding target. Further experiments demonstrated that resveratrol had little effect on VACV early gene expression, while it suppressed VACV DNA synthesis, and subsequently post-replicative gene expression.

  3. Suppression of Poxvirus Replication by Resveratrol

    Directory of Open Access Journals (Sweden)

    Shuai Cao

    2017-11-01

    Full Text Available Poxviruses continue to cause serious diseases even after eradication of the historically deadly infectious human disease, smallpox. Poxviruses are currently being developed as vaccine vectors and cancer therapeutic agents. Resveratrol is a natural polyphenol stilbenoid found in plants that has been shown to inhibit or enhance replication of a number of viruses, but the effect of resveratrol on poxvirus replication is unknown. In the present study, we found that resveratrol dramatically suppressed the replication of vaccinia virus (VACV, the prototypic member of poxviruses, in various cell types. Resveratrol also significantly reduced the replication of monkeypox virus, a zoonotic virus that is endemic in Western and Central Africa and causes human mortality. The inhibitory effect of resveratrol on poxviruses is independent of VACV N1 protein, a potential resveratrol binding target. Further experiments demonstrated that resveratrol had little effect on VACV early gene expression, while it suppressed VACV DNA synthesis, and subsequently post-replicative gene expression.

  4. Autism and ADHD: Overlapping and Discriminating Symptoms

    Science.gov (United States)

    Mayes, Susan Dickerson; Calhoun, Susan L.; Mayes, Rebecca D.; Molitoris, Sarah

    2012-01-01

    Children with ADHD and autism have some similar features, complicating a differential diagnosis. The purpose of our study was to determine the degree to which core ADHD and autistic symptoms overlap in and discriminate between children 2-16 years of age with autism and ADHD. Our study demonstrated that 847 children with autism were easily…

  5. Color Perception in Children with Autism

    Science.gov (United States)

    Franklin, Anna; Sowden, Paul; Burley, Rachel; Notman, Leslie; Alder, Elizabeth

    2008-01-01

    This study examined whether color perception is atypical in children with autism. In experiment 1, accuracy of color memory and search was compared for children with autism and typically developing children matched on age and non-verbal cognitive ability. Children with autism were significantly less accurate at color memory and search than…

  6. Elderly with Autism: Executive Functions and Memory

    Science.gov (United States)

    Geurts, Hilde M.; Vissers, Marlies E.

    2012-01-01

    Cognitive autism research is mainly focusing on children and young adults even though we know that autism is a life-long disorder and that healthy aging already has a strong impact on cognitive functioning. We compared the neuropsychological profile of 23 individuals with autism and 23 healthy controls (age range 51-83 years). Deficits were…

  7. Low Endogenous Neural Noise in Autism

    Science.gov (United States)

    Davis, Greg; Plaisted-Grant, Kate

    2015-01-01

    "Heuristic" theories of autism postulate that a single mechanism or process underpins the diverse psychological features of autism spectrum disorder. Although no such theory can offer a comprehensive account, the parsimonious descriptions they provide are powerful catalysts to autism research. One recent proposal holds that…

  8. Test Review: Autism Spectrum Rating Scales

    Science.gov (United States)

    Simek, Amber N.; Wahlberg, Andrea C.

    2011-01-01

    This article reviews Autism Spectrum Rating Scales (ASRS) which are designed to measure behaviors in children between the ages of 2 and 18 that are associated with disorders on the autism spectrum as rated by parents/caregivers and/or teachers. The rating scales include items related to behaviors associated with Autism, Asperger's Disorder, and…

  9. Developing Undergraduate Coursework in Autism Spectrum Disorders

    Science.gov (United States)

    Masterson, Tracy Loye; Dimitriou, Francine; Turko, Kristine; McPartland, James

    2014-01-01

    With rates of autism spectrum disorders (ASD) continuing to rise alongside improvements in early identification and treatment, service providers are in great demand. Providing undergraduate students with opportunities for education and applied experiences with autism spectrum disorders (ASD) can help fill a valuable niche in the autism community.…

  10. Survey of Bilingualism in Autism Spectrum Disorders

    Science.gov (United States)

    Kay-Raining Bird, Elizabeth; Lamond, Erin; Holden, Jeanette

    2012-01-01

    This survey study investigates issues related to bilingualism and autism. Bilingualism is common around the world but there is little published information to guide professionals and parents in making decisions about bilingualism for children with autism. Participants were 49 parents or guardians of children with autism who were members of a…

  11. Mind and body: concepts of human cognition, physiology and false belief in children with autism or typical development.

    Science.gov (United States)

    Peterson, Candida C

    2005-08-01

    This study examined theory of mind (ToM) and concepts of human biology (eyes, heart, brain, lungs and mind) in a sample of 67 children, including 25 high functioning children with autism (age 6-13), plus age-matched and preschool comparison groups. Contrary to Baron-Cohen [1989, Journal of Autism and Developmental Disorders, 19(4), 579-600], most children with autism correctly understood the functions of the brain (84%) and the mind (64%). Their explanations were predominantly mentalistic. They outperformed typically developing preschoolers in understanding inner physiological (heart, lungs) and cognitive (brain, mind) systems, and scored as high as age-matched typical children. Yet, in line with much previous ToM research, most children with autism (60%) failed false belief, and their ToM performance was unrelated to their understanding of. human biology. Results were discussed in relation to neurobiological and social-experiential accounts of the ToM deficit in autism.

  12. A New Replication Norm for Psychology

    Directory of Open Access Journals (Sweden)

    Etienne P LeBel

    2015-10-01

    Full Text Available In recent years, there has been a growing concern regarding the replicability of findings in psychology, including a mounting number of prominent findings that have failed to replicate via high-powered independent replication attempts. In the face of this replicability “crisis of confidence”, several initiatives have been implemented to increase the reliability of empirical findings. In the current article, I propose a new replication norm that aims to further boost the dependability of findings in psychology. Paralleling the extant social norm that researchers should peer review about three times as many articles that they themselves publish per year, the new replication norm states that researchers should aim to independently replicate important findings in their own research areas in proportion to the number of original studies they themselves publish per year (e.g., a 4:1 original-to-replication studies ratio. I argue this simple approach could significantly advance our science by increasing the reliability and cumulative nature of our empirical knowledge base, accelerating our theoretical understanding of psychological phenomena, instilling a focus on quality rather than quantity, and by facilitating our transformation toward a research culture where executing and reporting independent direct replications is viewed as an ordinary part of the research process. To help promote the new norm, I delineate (1 how each of the major constituencies of the research process (i.e., funders, journals, professional societies, departments, and individual researchers can incentivize replications and promote the new norm and (2 any obstacles each constituency faces in supporting the new norm.

  13. A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood.

    Science.gov (United States)

    Mazlum, Betül; Anlar, Banu; Kalkanoğlu-Sivri, H Serap; Karlı-Oğuz, Kader; Özusta, Şeniz; Ünal, Fatih

    2016-01-01

    Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients. We present a three-year old boy who exhibited the symptoms of autism and was subsequently diagnosed with phenylketonuria. This case illustrates that because the majority of autism cases are idiopathic, an occasional patient with a metabolic disorder might be overlooked especially in the era of newborn screening. We also discuss the possible pathogenetic processes leading to autistic symptoms in phenylketonuria, and wish to draw attention to the possibility of cases missed in the screening program because of less than 100% coverage or insufficient food intake before blood sampling. Clinicians should keep in mind the possibility of treatable disorders in children with autism even when such disorders appear unlikely.

  14. Investigation of SLC6A4 gene expression in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Elif Funda Şener

    2015-06-01

    Full Text Available Objective: Autism is defined as a complex neurodevelopmental disorder. Genetics plays a major role in the etiology of autism spectrum disorders (ASD. The role of the serotonin in the development of autism has been widely investigated. SLC6A4 gene (SERT or 5-HT has an important role reuptaking of serotonin. Because of this, our study examined the expression level of SLC6A4 gene in autism patients. Methods: Thirty-four patients (26 male, 8 female who diagnosed as autism firstly according to DSM-V criteria in the Department of child psychiatry, Erciyes University Medical Faculty and healthy 23 controls (16 male, 7 female were enrolled in this study. Total RNA was isolated from peripheral blood samples using TRIzol. Quantitative Real-time PCR (qRT-PCR was performed to detect SLC6A4 gene expression. Results: SLC6A4 gene expression was found statistically significant and low in autism group compared with controls (p=0,027. Conclusion: The low gene expression in the patient group implied that there is an abnormality of serotonin reuptake. According to our results, we suggest that much more studies may be planned with the expression and methylation profile of this gene combined with gene polymorphisms especially affecting the expression in larger sample sizes. J Clin Exp Invest 2015; 6 (2: 165-169

  15. Theory of mind in children with and without autism spectrum disorder: Associations with the sibling constellation.

    Science.gov (United States)

    Matthews, Nicole L; Goldberg, Wendy A

    2018-04-01

    The two prior studies that have examined associations between the sibling constellation and theory of mind in autism spectrum disorder yielded discrepant findings. Thus, efforts to better understand the sibling-theory of mind link in autism spectrum disorder are necessary. This study examined a sample of prekindergarten- and kindergarten-aged (i.e. 4-6 years) typically developing children ( n = 39) and verbal children with autism spectrum disorder ( n = 61). Sibling presence, number of siblings, and having younger and older siblings were positively associated with theory of mind in typically developing children, but not in the full sample of children with autism spectrum disorder. However, in the subgroup of children with autism spectrum disorder without sibling recurrence, the presence of at least one older sibling was positively associated with theory of mind. Findings expand previous limited research on the sibling-theory of mind link in children with autism spectrum disorder by demonstrating a potential difference in the influence of the sibling constellation between children from simplex and multiplex families.

  16. Language performance in siblings of nonverbal children with autism.

    Science.gov (United States)

    Levy, Yonata; Bar-Yuda, Chanit

    2011-05-01

    The study focuses on language and cognitive abilities of siblings of the linguistically most affected children with autism (i.e. siblings of nonverbal children - SIBS-ANV). Twenty-eight SIBS-ANV (17 boys), ages 4-9 years, took part in the study. All children attended regular schools, and none had received a diagnosis of autism. Controls were 27 typically developing children (SIBS-TD; 16 boys) matched to the SIBS-ANV on age, family background, socioeconomic status and type of school they attended. Significant IQ differences, as well as language differences as measured on the Clinical Evaluation of Language Fundamentals (CELF), emerged between SIBS-ANV and SIBS-TD. However, differences in the language scores mostly disappeared when PIQ and FSIQ were controlled for. Furthermore, grammatical analysis of spontaneous speech samples produced in the course of testing did not reveal any significant differences between the groups. These results add to recent work suggesting that language deficits may not be part of the Broad Autism Phenotype (BAP). It further suggests that the cognitive deficit characteristic of nonverbal people with autism may be familial.

  17. Targeting DNA Replication Stress for Cancer Therapy

    Directory of Open Access Journals (Sweden)

    Jun Zhang

    2016-08-01

    Full Text Available The human cellular genome is under constant stress from extrinsic and intrinsic factors, which can lead to DNA damage and defective replication. In normal cells, DNA damage response (DDR mediated by various checkpoints will either activate the DNA repair system or induce cellular apoptosis/senescence, therefore maintaining overall genomic integrity. Cancer cells, however, due to constitutive growth signaling and defective DDR, may exhibit “replication stress” —a phenomenon unique to cancer cells that is described as the perturbation of error-free DNA replication and slow-down of DNA synthesis. Although replication stress has been proven to induce genomic instability and tumorigenesis, recent studies have counterintuitively shown that enhancing replicative stress through further loosening of the remaining checkpoints in cancer cells to induce their catastrophic failure of proliferation may provide an alternative therapeutic approach. In this review, we discuss the rationale to enhance replicative stress in cancer cells, past approaches using traditional radiation and chemotherapy, and emerging approaches targeting the signaling cascades induced by DNA damage. We also summarize current clinical trials exploring these strategies and propose future research directions including the use of combination therapies, and the identification of potential new targets and biomarkers to track and predict treatment responses to targeting DNA replication stress.

  18. Factors influencing microinjection molding replication quality

    Science.gov (United States)

    Vera, Julie; Brulez, Anne-Catherine; Contraires, Elise; Larochette, Mathieu; Trannoy-Orban, Nathalie; Pignon, Maxime; Mauclair, Cyril; Valette, Stéphane; Benayoun, Stéphane

    2018-01-01

    In recent years, there has been increased interest in producing and providing high-precision plastic parts that can be manufactured by microinjection molding: gears, pumps, optical grating elements, and so on. For all of these applications, the replication quality is essential. This study has two goals: (1) fabrication of high-precision parts using the conventional injection molding machine; (2) identification of robust parameters that ensure production quality. Thus, different technological solutions have been used: cavity vacuuming and the use of a mold coated with DLC or CrN deposits. AFM and SEM analyses were carried out to characterize the replication profile. The replication quality was studied in terms of the process parameters, coated and uncoated molds and crystallinity of the polymer. Specific studies were processed to quantify the replicability of injection molded parts (ABS, PC and PP). Analysis of the Taguchi experimental designs permits prioritization of the impact of each parameter on the replication quality. A discussion taking into account these new parameters and the thermal and spreading properties on the coatings is proposed. It appeared that, in general, increasing the mold temperature improves the molten polymer fill in submicron features except for the steel insert (for which the presence of a vacuum is the most important factor). Moreover, the DLC coating was the best coating to increase the quality of the replication. This result could be explained by the lower thermal diffusivity of this coating. We noted that the viscosity of the polymers is not a primordial factor of the replication quality.

  19. The Inherent Asymmetry of DNA Replication.

    Science.gov (United States)

    Snedeker, Jonathan; Wooten, Matthew; Chen, Xin

    2017-10-06

    Semiconservative DNA replication has provided an elegant solution to the fundamental problem of how life is able to proliferate in a way that allows cells, organisms, and populations to survive and replicate many times over. Somewhat lost, however, in our admiration for this mechanism is an appreciation for the asymmetries that occur in the process of DNA replication. As we discuss in this review, these asymmetries arise as a consequence of the structure of the DNA molecule and the enzymatic mechanism of DNA synthesis. Increasing evidence suggests that asymmetries in DNA replication are able to play a central role in the processes of adaptation and evolution by shaping the mutagenic landscape of cells. Additionally, in eukaryotes, recent work has demonstrated that the inherent asymmetries in DNA replication may play an important role in the process of chromatin replication. As chromatin plays an essential role in defining cell identity, asymmetries generated during the process of DNA replication may play critical roles in cell fate decisions related to patterning and development.

  20. Ultrastructural Characterization of Zika Virus Replication Factories

    Directory of Open Access Journals (Sweden)

    Mirko Cortese

    2017-02-01

    Full Text Available Summary: A global concern has emerged with the pandemic spread of Zika virus (ZIKV infections that can cause severe neurological symptoms in adults and newborns. ZIKV is a positive-strand RNA virus replicating in virus-induced membranous replication factories (RFs. Here we used various imaging techniques to investigate the ultrastructural details of ZIKV RFs and their relationship with host cell organelles. Analyses of human hepatic cells and neural progenitor cells infected with ZIKV revealed endoplasmic reticulum (ER membrane invaginations containing pore-like openings toward the cytosol, reminiscent to RFs in Dengue virus-infected cells. Both the MR766 African strain and the H/PF/2013 Asian strain, the latter linked to neurological diseases, induce RFs of similar architecture. Importantly, ZIKV infection causes a drastic reorganization of microtubules and intermediate filaments forming cage-like structures surrounding the viral RF. Consistently, ZIKV replication is suppressed by cytoskeleton-targeting drugs. Thus, ZIKV RFs are tightly linked to rearrangements of the host cell cytoskeleton. : Cortese et al. show that ZIKV infection in both human hepatoma and neuronal progenitor cells induces drastic structural modification of the cellular architecture. Microtubules and intermediate filaments surround the viral replication factory composed of vesicles corresponding to ER membrane invagination toward the ER lumen. Importantly, alteration of microtubule flexibility impairs ZIKV replication. Keywords: Zika virus, flavivirus, human neural progenitor cells, replication factories, replication organelles, microtubules, intermediate filaments, electron microscopy, electron tomography, live-cell imaging