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Sample records for autism replication samples

  1. 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.

  2. 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…

  3. 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 ...

  4. 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.

  5. Anxiety in High-Functioning Autism: A Pilot Study of Experience Sampling Using a Mobile Platform

    Science.gov (United States)

    Hare, Dougal Julian; Gracey, Carolyn; Wood, Christopher

    2016-01-01

    Anxiety and stress are everyday issues for many people with high-functioning autism, and while cognitive-behavioural therapy is the treatment of choice for the management of anxiety, there are challenges in using it with people with high-functioning autism. This study used modified experience sampling techniques to examine everyday anxiety and…

  6. The Strange Stories Test: A Replication with High-Functioning Adults with Autism or Asperger Syndrome.

    Science.gov (United States)

    Jolliffe, Therese; Baron-Cohen, Simon

    1999-01-01

    Individuals with either high-functioning autism (N=17) or Asperger Syndrome (N=17) were tested with Happe's Strange Stories Test, which assesses the ability to interpret a nonliteral statement. Compared to normal controls, both groups had greater difficulty providing contextually appropriate mental state answers, with the autistic group having the…

  7. A Systematic Replication of Teaching Children with Autism to Respond Appropriately to Lures from Strangers

    Science.gov (United States)

    Bergstrom, Ryan; Najdowski, Adel C.; Tarbox, Jonathan

    2014-01-01

    We evaluated the effects of behavioral skills training in the home for teaching children with autism to abstain from going with strangers and immediately inform a familiar adult of the stranger's attempt to lure them in the natural environment. All participants learned to respond correctly to lures in the home and demonstrated concomitant…

  8. Replication of Major Profile Patterns in Structural Equation Modeling: Effect of Bootstrapping in a Small Sample.

    Science.gov (United States)

    Kim, Se-Kang

    The effect of bootstrapping was studied by examining whether major profile patterns were replicated when sample sizes were reduced. Profile patterns estimated from the original sample (n=645) of the Wechsler Preschool and Primary Scale of IntelligenceThird Edition (WPPSI-III) Standardization Data were considered major profiles. For bootstrapping,…

  9. 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.

  10. 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.|info:eu-repo/dai/nl/194111423; 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,

  11. 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,

  12. 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.

  13. 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

  14. 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…

  15. 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 .

  16. 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.

  17. Morphological and syntactic skills in language samples of pre school aged children with autism: atypical development?

    Science.gov (United States)

    Park, Carlie J; Yelland, Gregory W; Taffe, John R; Gray, Kylie M

    2012-04-01

    This study investigated whether children with autism have atypical development of morphological and syntactic skills, including whether they use rote learning to compensate for impaired morphological processing and acquire grammatical morphemes in an atypical order. Participants were children aged from 3-6 years who had autism (n = 17), developmental delay without autism (n = 7), and typically-developing children (n = 19). Language samples were taken from participants during the administration of the Autism Diagnostic Observation Schedule, and transcripts were coded using the Index of Productive Syntax, and for usage of Brown's grammatical morphemes. Participants were also administered an elicitation task requiring the application of inflections to non-words; the Wugs Task. The main finding of this study was that children with autism have unevenly developed morphological and syntactic sub-skills; they have skills which are a combination of intact, delayed, and atypical. It was also found that children with autism and children with developmental delays can acquire and use morphological rules. The implications of these findings are that, in order to maximize language acquisition for these children, clinicians need to utilize comprehensive language assessment tools and design interventions that are tailored to the child's strengths and weaknesses.

  18. 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...... research must agree on the definitions of core concepts such as autism and psychosis. A possible redefinition of the concept of autism may be a condition in which the rationale of an individual's behaviour differs qualitatively from that of the social environment due to characteristic cognitive impairments...

  19. 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

  20. 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.…

  1. 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…

  2. 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

  3. 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.

  4. 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

  5. The tripartite influence model of body image and eating disturbance: a replication with a Japanese sample.

    Science.gov (United States)

    Yamamiya, Yuko; Shroff, Hemal; Thompson, J Kevin

    2008-01-01

    To examine the tripartite influence model of body image and eating disturbance as a viable sociocultural explanation for the development of eating and body image problems with young Japanese females. A sample of 289 Japanese female undergraduates completed a variety of measures designed to index family, peer, and media influences, as well as levels of body dissatisfaction, eating disturbances, and self-esteem. The data were evaluated with structural equation modeling to test the tripartite model. Fit indices indicated a moderate fit to the overall tripartite model, replicating previous findings. This study suggests that the sociocultural variables found to influence body image and eating disturbances in Japan are similar to those observed with US samples. The implications for prevention and intervention programs are discussed.

  6. 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…

  7. EAT-UP™ Family-Centered Feeding Intervention to Promote Food Acceptance and Decrease Challenging Behaviors: A Single-Case Experimental Design Replicated across Three Families of Children with Autism Spectrum Disorder

    Science.gov (United States)

    Cosbey, Joanna; Muldoon, Deirdre

    2017-01-01

    This study evaluated the effectiveness of a family-centered feeding intervention, Easing Anxiety Together with Understanding and Perseverance (EAT-UP™), for promoting food acceptance of children with autism spectrum disorder at home. A concurrent multiple-baseline design was used with systematic replication across three families. Baseline was…

  8. Single-shot all-optical sampling oscilloscope using a polarization-maintaining resonator for pulse replication

    Czech Academy of Sciences Publication Activity Database

    Komanec, M.; Honzátko, Pavel; Zvánovec, S.

    2010-01-01

    Roč. 52, č. 11 (2010), s. 2452-2456 ISSN 0895-2477 R&D Projects: GA AV ČR 1ET300670502 Institutional research plan: CEZ:AV0Z20670512 Keywords : optical sampling oscilloscope * four-wave mixing * fiber pulse replicator * highly nonlinear fiber Subject RIV: BH - Optics, Masers, Lasers Impact factor: 0.656, year: 2010

  9. 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…

  10. 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…

  11. 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…

  12. 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.

  13. 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…

  14. 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…

  15. Examination of the Properties of the Modified Checklist for Autism in Toddlers (M-CHAT) in a Population Sample

    Science.gov (United States)

    Yama, Brie; Freeman, Tom; Graves, Erin; Yuan, Su; Campbell, M. Karen

    2012-01-01

    This study examines the following properties of the Modified Checklist for Autism in Toddlers (M-CHAT) in an unselected low-risk sample: (a) the maximum age for screen administration; (b) the positive screen rate in the absence of follow-up telephone interviews and; (c) the distributional properties of positive screens. Data came from a…

  16. Assessing bacterial populations in the lung by replicate analysis of samples from the upper and lower respiratory tracts.

    Directory of Open Access Journals (Sweden)

    Emily S Charlson

    Full Text Available Microbes of the human respiratory tract are important in health and disease, but accurate sampling of the lung presents challenges. Lung microbes are commonly sampled by bronchoscopy, but to acquire samples the bronchoscope must pass through the upper respiratory tract, which is rich in microbes. Here we present methods to identify authentic lung microbiota in bronchoalveolar lavage (BAL fluid that contains substantial oropharyngeal admixture. We studied clinical BAL samples from six selected subjects with potential heavy lung colonization. A single sample of BAL fluid was obtained from each subject along with contemporaneous oral wash (OW to sample the oropharynx, and then DNA was extracted from three separate aliquots of each. Bacterial 16S rDNA sequences were amplified and products analyzed by 454 pyrosequencing. By comparing replicates, we were able to specify the depth of sequencing needed to reach a 95% chance of identifying a bacterial lineage of a given proportion--for example, at a depth of 5,000 tags, OTUs of proportion 0.3% or greater would be called with 95% confidence. We next constructed a single-sided outlier test that allowed lung-enriched organisms to be quantified against a background of oropharyngeal admixture, and assessed improvements available with replicate sequence analysis. This allowed identification of lineages enriched in lung in some BAL specimens. Finally, using samples from healthy volunteers collected at multiple sites in the upper respiratory tract, we show that OW provides a reasonable but not perfect surrogate for bacteria carried into to the lung by a bronchoscope. These methods allow identification of microbes that can replicate in the lung despite the background due to oropharyngeal microbes derived from aspiration and bronchoscopic carry-over.

  17. Experience Sampling of Positive Affect in Adolescents with Autism: Feasibility and Preliminary Findings.

    Science.gov (United States)

    Kovac, Megan; Mosner, Maya; Miller, Stephanie; Hanna, Eleanor K; Dichter, Gabriel S

    2016-01-01

    Experience sampling is a powerful method for obtaining ecologically valid data from research participants in real-world contexts. Given the urgent need for innovative and sensitive outcome measures in autism spectrum disorder (ASD) research, the present study sought to examine the feasibility of using experience sampling of positive affect and behavior in adolescents with ASD. Nineteen high functioning adolescents with ASD and 20 sex and age matched controls completed smartphone- and Qualtrics® -based experience sampling of positive affect and behavior six times over four days. Adherence was excellent: adolescents with ASD completed 85% of the assessments, compared to 93% in controls, and response rates were not impacted by age or IQ. Groups did not differ in positive affect overall or as a function of activities, nor did groups differ in the proportion of assessments completed during social or nonsocial activities. However, groups did differ in the proportion of assessments completed during preferred activities. Results suggest that smartphone- and Qualtrics® -based experience sampling with high functioning adolescents with ASD is feasible and captures real-world behaviors that would not be possible using laboratory-based measures.

  18. 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…

  19. 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…

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

    NARCIS (Netherlands)

    de Bildt, Annelies; Sytema, Sjoerd; Zander, Eric; Bolte, Sven; Sturm, Harald; Yirmiya, Nurit; Yaari, Maya; Charman, Tony; Salomone, Erica; LeCouteur, Ann; Green, Jonathan; Canal Bedia, Ricardo; Primo, Patricia Garcia; van Daalen, Emma; de Jonge, Maretha V.; Gudmundsdottir, Emilia; Johannsdottir, Sigurros; Raleva, Marija; Boskovska, Meri; Roge, Bernadette; Baduel, Sophie; Moilanen, Irma; Yliherva, Anneli; Buitelaar, Jan; Oosterling, Iris J.

    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

  1. 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…

  2. A limited sampling approach in bioequivalence studies: application to long half-life drugs and replicate design studies.

    Science.gov (United States)

    Mahmood, I; Mahayni, H

    1999-06-01

    The objectives of this study was to develop a limited sampling model (LSM) to predict the area under the curve (AUC) and the maximum plasma concentration (Cmax) for the assessment of bioequivalence studies. Two drugs (A and B) were selected for this purpose. Drug A was chosen to test bioequivalence of two formulations with a long half-life (> 35 hours), whereas drug B was chosen to test the bioequivalence of two formulations (half-life = 12 hrs) with a replicate design study. The LSM for both drugs was developed using 5 blood samples each from 15 healthy subjects. The relationship between plasma concentration (independent variable) at selected time points with the AUC or Cmax (dependent variable) was evaluated by multiple linear regression analysis. The multiple linear regression which gave the best correlation coefficient (r) for 5 sampling time vs AUC or Cmax was chosen as the LSM. The predicted AUC and Cmax from the LSM were then used to assess bioequivalence of two different formulations of each drug following a single oral dose. The model provided good estimates of both AUC and Cmax for both drugs. The 90% confidence intervals on log-transformed observed and predicted AUC and Cmax were comparable for both drugs. The method described here may be used to estimate AUC and Cmax for bioequivalence studies for drugs with long half-lives or for highly variable drugs which may require replicate design studies without detailed blood sampling.

  3. 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

  4. Replication Study of the Milwaukee Inventory for Subtypes of Trichotillomania–Adult Version in a Clinically Characterized Sample

    Science.gov (United States)

    Keuthen, Nancy J.; Tung, Esther S.; Woods, Douglas W.; Franklin, Martin E.; Altenburger, Erin M.; Pauls, David L.; Flessner, Christopher A.

    2015-01-01

    In the present study, we evaluated the Milwaukee Inventory for Subtypes of Trichotillomania–Adult Version (MIST-A) in a replication sample of clinically characterized hair pullers using exploratory factor analysis (EFA; N = 193). EFA eigenvalues and visual inspection of our scree plot revealed a two-factor solution. Factor structure coefficients and internal consistencies suggested a 13-item scale with an 8-item “Intention” scale and a 5-item “Emotion” scale. Both scales displayed good construct and discriminant validity. These findings indicate the need for a revised scale that provides a more refined assessment of pulling phenomenology that can facilitate future treatment advances. PMID:25868534

  5. Replication study of the milwaukee inventory for subtypes of trichotillomania-adult version in a clinically characterized sample.

    Science.gov (United States)

    Keuthen, Nancy J; Tung, Esther S; Woods, Douglas W; Franklin, Martin E; Altenburger, Erin M; Pauls, David L; Flessner, Christopher A

    2015-07-01

    In the present study, we evaluated the Milwaukee Inventory for Subtypes of Trichotillomania-Adult Version (MIST-A) in a replication sample of clinically characterized hair pullers using exploratory factor analysis (EFA; N = 193). EFA eigenvalues and visual inspection of our scree plot revealed a two-factor solution. Factor structure coefficients and internal consistencies suggested a 13-item scale with an 8-item "Intention" scale and a 5-item "Emotion" scale. Both scales displayed good construct and discriminant validity. These findings indicate the need for a revised scale that provides a more refined assessment of pulling phenomenology that can facilitate future treatment advances. © The Author(s) 2015.

  6. 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.

  7. 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).

  8. 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.

  9. 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…

  10. 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…

  11. Sex Differences in Autism Spectrum Disorder: Evidence from a Large Sample of Children and Adolescents

    Science.gov (United States)

    Mandy, William; Chilvers, Rebecca; Chowdhury, Uttom; Salter, Gemma; Seigal, Anna; Skuse, David

    2012-01-01

    Sex differences have been found amongst toddlers and young children with autism spectrum disorder (ASD). We investigated the presence and stability of these ASD sex differences throughout childhood and adolescence. Participants (N = 325, 52 females; aged 3-18 years) consecutively received an ASD diagnosis at a clinic for assessing high-functioning…

  12. 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…

  13. 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.

  14. 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…

  15. 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

    2014-11-01

    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 condition. The remaining students were either allocated to the no-intervention peer or no-intervention non-peer condition. The anti-stigma program positively influenced knowledge, attitudes and to a lesser extent behavioural intentions towards peers with higher-functioning autism within the intervention condition. Some degree of attitudinal improvement occurred across all conditions following the program suggesting some spill over effects. Overall, findings provide preliminary evidence supporting the efficacy of an anti-stigma program tailored to support females with higher-functioning autism.

  16. Adaptive Function in Preschoolers in Relation to Developmental Delay and Diagnosis of Autism Spectrum Disorders: Insights from a Clinical Sample

    Science.gov (United States)

    Milne, Susan L.; McDonald, Jenny L.; Comino, Elizabeth J.

    2013-01-01

    This study aims to explore the relationship between developmental ability, autism and adaptive skills in preschoolers. Adaptive function was assessed in 152 preschoolers with autism, with and without developmental delay, and without autism, with and without developmental delay. Their overall adaptive function, measured by the general adaptive…

  17. 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…

  18. 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

  19. Assessing Quality of Program Environments for Children and Youth with Autism: Autism Program Environment Rating Scale (APERS).

    Science.gov (United States)

    Odom, Samuel L; Cox, Ann; Sideris, John; Hume, Kara A; Hedges, Susan; Kucharczyk, Suzanne; Shaw, Evelyn; Boyd, Brian A; Reszka, Stephanie; Neitzel, Jennifer

    2018-03-01

    The purpose of this study was to examine the psychometric properties of the Autism Program Environment Rating Scale (APERS), an instrument designed to assess quality of program environments for students with autism spectrum disorder. Data sets from two samples of public school programs that provided services to children and youth with autism spectrum disorder were utilized. Cronbach alpha analyses indicated high coefficients of internal consistency for the total APERS and moderate levels for item domains for the first data set, which was replicated with the second data set. A factor analysis of the first data set indicated that all domain scores loaded on one main factor, in alignment with the conceptual model, with this finding being replicated in the second data set. Also, the APERS was sensitive to changes resulting from a professional development program designed to promote program quality.

  20. 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.

  1. 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.

  2. Social Communication Coaching Smartglasses: Well Tolerated in a Diverse Sample of Children and Adults With Autism.

    Science.gov (United States)

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

    2017-09-21

    Augmented reality (AR) smartglasses are an emerging technology that is under investigation as a social communication aid for children and adults with autism spectrum disorder (ASD) and as a research tool to aid with digital phenotyping. Tolerability of this wearable technology in people with ASD is an important area for research, especially as these individuals may experience sensory, cognitive, and attentional challenges. The aim of this study was to assess the tolerability and usability of a novel smartglasses system that has been designed as a social communication aid for children and adults with autism (the Brain Power Autism System [BPAS]). BPAS runs on Google Glass Explorer Edition and other smartglasses, uses both AR and affective artificial intelligence, and helps users learn key social and emotional skills. A total of 21 children and adults with ASD across a spectrum of severity used BPAS for a coaching session. The user's tolerability to the smartglasses, user being able to wear the smartglasses for 1 minute (initial tolerability threshold), and user being able to wear the smartglasses for the entire duration of the coaching session (whole session tolerability threshold) were determined through caregiver report. Of 21 users, 19 (91%) demonstrated tolerability on all 3 measures. Caregivers reported 21 out of 21 users (100%) as tolerating the experience, while study staff found only 19 out of 21 users managed to demonstrate initial tolerability (91%). Of the 19 users who demonstrated initial tolerability, all 19 (100%) were able to use the smartglasses for the entire session (whole session tolerability threshold). Caregivers reported that 19 out of 21 users (91%) successfully used BPAS, and users surpassed caregiver expectations in 15 of 21 cases (71%). Users who could communicate reported BPAS as being comfortable (94%). This preliminary report suggests that BPAS is well tolerated and usable to a diverse age- and severity-range of people with ASD. This is

  3. 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...... increased DNA replication stress....

  4. Brief Report: Accuracy and response time for the recognition of facial emotions in a large sample of children with autism spectrum disorders

    NARCIS (Netherlands)

    Fink, E.; De Rosnay, M.; Wierda, M.; Koot, H.M.; Begeer, S.

    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

  5. 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…

  6. 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.

  7. Prevalence and Predictors of Complementary and Alternative Medicine Use in a Large Insured Sample of Children with Autism Spectrum Disorders.

    Science.gov (United States)

    Owen-Smith, Ashli A; Bent, Stephen; Lynch, Frances L; Coleman, Karen J; Yau, Vincent M; Pearson, Kathryn A; Massolo, Maria L; Quinn, Virginia; Croen, Lisa A

    2015-09-01

    The purpose of the present study was to examine the prevalence and predictors of complementary and alternative medicine (CAM) use as well as parental perceptions of CAM efficacy in a large, geographically diverse sample of children with Autism Spectrum Disorders (ASD). Data were obtained from a web-based survey administered to parents of children with ASD at four sites participating in the Mental Health Research Network (MHRN). The web survey obtained information about services and treatments received by children with ASD as well as the caregivers' experiences with having a child with ASD. Approximately 88% of the sample had either used CAM in the past or had recently used some type of CAM. The following characteristics were associated with CAM use: greater parental education, younger child age, a mix of regular and special classroom settings and prescription drug use in the past three months. The use of CAM was very prevalent in this large, geographically diverse sample of children with ASD. It is critical that providers be prepared to discuss the advantages and potential side effects with families to help them make well-informed health care decisions and prevent possible CAM-drug interactions.

  8. 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 ...

  9. Association of HLA-DRB1 alleles and neuropsychological function in autism.

    Science.gov (United States)

    Chien, Yi-Ling; Wu, Yu-Yu; Chen, Chia-Hsiang; Gau, Susan Shur-Fen; Huang, Yu-Shu; Chien, Wei-Hsien; Hu, Fu-Chang; Chao, Yu-Lin

    2012-02-01

    Evidence suggests an association between autism and immune dysfunction. The associations between human lymphocyte antigen (HLA)-A2, B44, DRβ1*04 (DR4), C4B, and haplotype B44-SC30-DR4 and autism have been reported in western countries but there is a lack of such information in Asian population. This study aimed to assess the association between HLA-DRB1 allele frequencies and the clinical phenomenology of autism. The sample included 141 participants (male, 87.2%), who were diagnosed with autistic disorder based on clinical assessments and structured interviews using the Chinese version of the Autism Diagnostic Interview-Revised, and 156 healthy controls (male, 38.6%). The HLA-DRB1 alleles were determined by sequencing-based typing method. A subsample of patients (n=39) were assessed for intelligence and neuropsychological functions. The results showed that the pattern of DRB1 allele frequencies was significantly different between patients with autism and the controls (P=0.047). After adjusting for sex by haplotype regression, the frequencies of DR4, DR11, and DR14 were significantly different between patients with autism and healthy controls. In addition, patients with autism and DR4, DR11, or DR14 had different performance on intelligence and neuropsychology tests. Despite a relatively small sample size and a case-control association design, the findings suggest HLA-DRB1 gene might be associated with autism in Han Chinese. The true functional variants associated with autism in our samples remain to be further clarified. It warrants a replication study of a larger family sample and to validate the HLA genetic association with autism and its influence on neuropsychological function.

  10. 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...

  11. Replicability and generalizability of PTSD networks: A cross-cultural multisite study of PTSD symptoms in four trauma patient samples

    DEFF Research Database (Denmark)

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

    2018-01-01

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

  12. 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.

  13. Autism risk assessment in siblings of affected children using sex-specific genetic scores

    Directory of Open Access Journals (Sweden)

    Carayol Jerome

    2011-10-01

    Full Text Available Abstract Background The inheritance pattern in most cases of autism is complex. The risk of autism is increased in siblings of children with autism and previous studies have indicated that the level of risk can be further identified by the accumulation of multiple susceptibility single nucleotide polymorphisms (SNPs allowing for the identification of a higher-risk subgroup among siblings. As a result of the sex difference in the prevalence of autism, we explored the potential for identifying sex-specific autism susceptibility SNPs in siblings of children with autism and the ability to develop a sex-specific risk assessment genetic scoring system. Methods SNPs were chosen from genes known to be associated with autism. These markers were evaluated using an exploratory sample of 480 families from the Autism Genetic Resource Exchange (AGRE repository. A reproducibility index (RI was proposed and calculated in all children with autism and in males and females separately. Differing genetic scoring models were then constructed to develop a sex-specific genetic score model designed to identify individuals with a higher risk of autism. The ability of the genetic scores to identify high-risk children was then evaluated and replicated in an independent sample of 351 affected and 90 unaffected siblings from families with at least 1 child with autism. Results We identified three risk SNPs that had a high RI in males, two SNPs with a high RI in females, and three SNPs with a high RI in both sexes. Using these results, genetic scoring models for males and females were developed which demonstrated a significant association with autism (P = 2.2 × 10-6 and 1.9 × 10-5, respectively. Conclusions Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects. We also show that a sex-specific risk score based on the presence of multiple susceptibility associated SNPs allow for the identification of

  14. A partial replication of Lippin (1990) using the Myers-Briggs type indicator with a sample of female prisoners.

    Science.gov (United States)

    Long, C K; Lenoir, C; Phung, T; Witherspoon, A D

    1995-10-01

    A sample of 108 women incarcerated in a state prison who volunteered to participate in an employment seminar were given the Myers-Briggs Type Indicator. Comparison of the distribution of types here and in Myers and McCaulley's 1985 sample using a Selection Ratio Type Table for analysis indicated an overrepresentation of ISTJ, ISFJ, and ISTP. The ESFP and ESFJ types were underrepresented. Further analysis of the types and the relationship to criminal offense was not significant. Results are compared with those of Lippin from 1990.

  15. 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

    Foot-and-mouth disease (FMD) is a highly contagious viral infection of significant financial importance to the export and trade of agricultural products. The occurrence of persistently infected ‘‘carriers’’ of FMD-virus (FMDV) in ruminant species adds further complications to disease control....... There have been significant discrepancies in reports regarding the pathogenesis of FMDV infection in cattle with specific emphasis on the anatomical sites involved in early and persistent virus replication. In this study, collection of small biopsy samples from the dorsal soft palate (DSP) of live animals...... was used to investigate the level of FMDV RNA present at this site at sequential time points during the infection. Results were compared to measurements of virus excretion in samples of oropharyngeal fluid collected at corresponding time points. Possible sites of virus persistence were investigated through...

  16. 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

  17. 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 ...

  18. 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

  19. Database Replication

    Directory of Open Access Journals (Sweden)

    Marius Cristian MAZILU

    2010-12-01

    Full Text Available For someone who has worked in an environment in which the same database is used for data entry and reporting, or perhaps managed a single database server that was utilized by too many users, the advantages brought by data replication are clear. The main purpose of this paper is to emphasize those advantages as well as presenting the different types of Database Replication and the cases in which their use is recommended.

  20. Failure to replicate the structure of a Spanish-language brief Wisconsin Inventory of Smoking Dependence Motives across three samples of Latino smokers.

    Science.gov (United States)

    Castro, Yessenia; Correa-Fernández, Virmarie; Cano, Miguel Á; Mazas, Carlos; Gonzalez, Karla; Vidrine, Damon J; Vidrine, Jennifer I; Wetter, David W

    2014-09-01

    Research in smoking is hindered by a lack of validated measures available in languages other than English. Availability of measures in languages other than English is vital to the inclusion of diverse groups in smoking research. To help address this gap, this study attempted to validate a Spanish-language version of the brief Wisconsin Inventory of Smoking Dependence Motives (Brief WISDM). Data from 3 independent, diverse samples of Spanish-speaking Latino smokers seeking cessation counseling were utilized. Confirmatory factor analyses of 3 known structures of the Brief WISDM were examined for fit within each sample. A separate analysis was also conducted with the 3 samples combined. A post-hoc exploratory factor analyses with the combined sample was also conducted. Across 12 confirmatory factor analyses, none of the 3 structures demonstrated good fit in any of the samples independently or in the combined sample. Across the 3 samples, high intercorrelations (>.90) were found among the Loss of Control, Craving, Tolerance, and Cue Exposure scales, suggesting great redundancy among these scales. An exploratory factor analyses (EFAs) further supported these high intercorrelations. Some subscales remained intact in the EFA but accounted for little variance. Overall, this study was unable to replicate the structure of a Spanish-language Brief WISDM in 3 independent samples of smokers. Possible explanations include inadequate translation of the measure and/or true and meaningful differences in the construct of dependence among Spanish-speaking Latino smokers. Both possibilities merit further research. © The Author 2014. Published by Oxford University Press on behalf of the Society for Research on Nicotine and Tobacco. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  1. 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.

  2. 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…

  3. Prevalence and risk factors of anxiety in a clinical Dutch sample of children with an autism spectrum disorder

    NARCIS (Netherlands)

    Wijnhoven, L.A.M.W.; Creemers, D.H.M.; Vermulst, A.A.; Granic, I.

    2018-01-01

    Anxiety is highly prevalent in children with an autism spectrum disorder (ASD). However, there is inconsistency in studies investigating prevalence and risk factors of anxiety in children with ASD. Therefore, the first aim of the present study was to give an overview of the prevalence of anxiety

  4. The measurement properties of the spence children's anxiety scale-parent version in a large international pooled sample of young people with autism spectrum disorder.

    Science.gov (United States)

    Magiati, Iliana; Lerh, Jian Wei; Hollocks, Matthew J; Uljarevic, Mirko; Rodgers, Jacqui; McConachie, Helen; Ozsivadjian, Ann; South, Mikle; Van Hecke, Amy; Hardan, Antonio; Libove, Robin; Leekam, Susan; Simonoff, Emily

    2017-10-01

    Anxiety-related difficulties are common in ASD, but measuring anxiety reliably and validly is challenging. Despite an increasing number of studies, there is no clear agreement on which existing anxiety measure is more psychometrically sound and what is the factor structure of anxiety in ASD. The present study examined the internal consistency, convergent, divergent, and discriminant validity, as well as the factor structure of the Spence Children's Anxiety Scale-Parent Version (SCAS-P), in a large international pooled sample of 870 caregivers of youth with ASD from 12 studies in the United Kingdom, United States, and Singapore who completed the SCAS-P. Most were community recruited, while the majority had at least one measure of ASD symptomatology and either cognitive or adaptive functioning measures completed. Existing SCAS-P total scale and subscales had excellent internal consistency and good convergent, divergent and discriminant validity similar to or better than SCAS-P properties reported in typically developing children, except for the poorer internal consistency of the physical injury subscale. Confirmatory Factor Analysis (CFA) of the existing SCAS-P six-correlated factor structure was a poor fit for this pooled database. Principal component analysis using half of the pooled sample identified a 30-item five correlated factor structure, but a CFA of this PCA-derived structure in the second half of this pooled sample revealed a poor fit, although the PCA-derived SCAS-P scale and subscales had stronger validity and better internal consistency than the original SCAS-P. The study's limitations, the use of the SCAS-P to screen for DSM-derived anxiety problems in ASD and future research directions are discussed. Autism Res 2017, 10: 1629-1652. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  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. Association and mutation analyses of 16p11.2 autism candidate genes.

    Directory of Open Access Journals (Sweden)

    Ravinesh A Kumar

    Full Text Available Autism is a complex childhood neurodevelopmental disorder with a strong genetic basis. Microdeletion or duplication of a approximately 500-700-kb genomic rearrangement on 16p11.2 that contains 24 genes represents the second most frequent chromosomal disorder associated with autism. The role of common and rare 16p11.2 sequence variants in autism etiology is unknown.To identify common 16p11.2 variants with a potential role in autism, we performed association studies using existing data generated from three microarray platforms: Affymetrix 5.0 (777 families, Illumina 550 K (943 families, and Affymetrix 500 K (60 families. No common variants were identified that were significantly associated with autism. To look for rare variants, we performed resequencing of coding and promoter regions for eight candidate genes selected based on their known expression patterns and functions. In total, we identified 26 novel variants in autism: 13 exonic (nine non-synonymous, three synonymous, and one untranslated region and 13 promoter variants. We found a significant association between autism and a coding variant in the seizure-related gene SEZ6L2 (12/1106 autism vs. 3/1161 controls; p = 0.018. Sez6l2 expression in mouse embryos was restricted to the spinal cord and brain. SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus. Association analysis of SEZ6L2 in an independent sample set failed to replicate our initial findings.We have identified sequence variation in at least one candidate gene in 16p11.2 that may represent a novel genetic risk factor for autism. However, further studies are required to substantiate these preliminary findings.

  7. Active and observational reward learning in adults with autism spectrum disorder: relationship with empathy in an atypical sample.

    Science.gov (United States)

    Bellebaum, Christian; Brodmann, Katja; Thoma, Patrizia

    2014-01-01

    Autism spectrum disorders (ASDs) are characterised by disturbances in social behaviour. A prevailing hypothesis suggests that these problems are related to deficits in assigning rewarding value to social stimuli. The present study aimed to examine monetary reward processing in adults with ASDs by means of event-related potentials (ERPs). Ten individuals with mild ASDs (Asperger's syndrome and high-functioning autism) and 12 healthy control subjects performed an active and an observational probabilistic reward-learning task. Both groups showed similar overall learning performance. With respect to reward processing, subjects with ASDs exhibited a general reduction in feedback-related negativity (FRN) amplitude, irrespective of feedback valence and type of learning (active or observational). Individuals with ASDs showed lower scores for cognitive empathy, while affective empathy did not differ between groups. Correlation analyses revealed that higher empathy (both cognitive and affective) negatively affected performance in observational learning in controls and in active learning in ASDs (only cognitive empathy). No relationships were seen between empathy and ERPs. Reduced FRN amplitudes are discussed in terms of a deficit in fast reward processing in ASDs, which may indicate altered reward system functioning.

  8. 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

  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. Polychlorinated Biphenyl and Organochlorine Pesticide Concentrations in Maternal Mid-Pregnancy Serum Samples: Association with Autism Spectrum Disorder and Intellectual Disability.

    Science.gov (United States)

    Lyall, Kristen; Croen, Lisa A; Sjödin, Andreas; Yoshida, Cathleen K; Zerbo, Ousseny; Kharrazi, Martin; Windham, Gayle C

    2017-03-01

    Polychlorinated biphenyls (PCBs) and organochlorine pesticides (OCPs) are neurodevelopmental toxicants, but few studies have examined associations with autism spectrum disorder (ASD). We aimed to determine whether prenatal exposure to PCBs and OCPs influences offspring risk of ASD and intellectual disability without autism (ID). We conducted a population-based case-control study among Southern California births, including children with ASD ( n = 545) meeting Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV-TR) criteria and ID ( n = 181), as well as general population (GP) controls ( n = 418). Concentrations of 11 PCB congeners and 2 OCPs measured in banked second-trimester serum samples were compared between the diagnostic groups. Logistic regression was used to calculate crude and adjusted odds ratios (AOR) for associations with ASD, and separately for ID, compared with GP controls, by quartiles of analyte concentrations in primary analyses. Geometric mean levels of several PCB congeners were higher in the ASD group than in the ID and GP groups. ASD risk was elevated for a number of PCB congeners, particularly for the highest vs. lowest quartile of PCB138/158 (AOR = 1.79; 95% CI: 1.10, 2.71) and PCB153 (AOR = 1.82; 95% CI: 1.10, 3.02), and for highest deciles of other congeners in secondary analyses. PCB138/158 was also associated with increased ID (AOR = 2.41; 95% CI: 1.18, 4.91), though no trend was suggested. OCPs were not associated with increased risk of ASD in primary analyses, whereas nonmonotonic increases in risk of ID were found with p,p ´-DDE. Our results suggest higher levels of some organochlorine compounds during pregnancy are associated with ASD and ID. Citation: Lyall K, Croen LA, Sjödin A, Yoshida CK, Zerbo O, Kharrazi M, Windham GC. 2017. Polychlorinated biphenyl and organochlorine pesticide concentrations in maternal mid-pregnancy serum samples: association with autism spectrum disorder and intellectual disability

  11. Autism across Cultures: Rethinking Autism

    Science.gov (United States)

    Kim, Hyun Uk

    2012-01-01

    Whereas the autism prevalence rate has been very closely monitored in the United States, the same has not been observed in many other countries. This may be attributed to the fact that each culture views and defines autism differently. Using field notes and semi-structured interviews with family members with an individual with autism, teachers,…

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

    Science.gov (United States)

    Hasmi, Laila; Drukker, Marjan; Guloksuz, Sinan; Menne-Lothmann, Claudia; Decoster, Jeroen; van Winkel, Ruud; Collip, Dina; Delespaul, Philippe; De Hert, Marc; Derom, Catherine; Thiery, Evert; Jacobs, Nele; Rutten, Bart P F; Wichers, Marieke; van Os, Jim

    2017-01-01

    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 present findings demonstrate

  13. 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.

  14. Brief report: Further evidence of sensory subtypes in autism.

    Science.gov (United States)

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

    2011-06-01

    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 triad of sensory subtypes reported earlier. Subtypes were differentiated from each other based on degree of SP dysfunction, taste/smell sensitivity and vestibular/proprioceptive processing. Further elucidation of two of the subtypes was also achieved in this study. Children with a primary pattern of sensory-based inattention could be further described as sensory seekers or non-seekers. Children with a primary pattern of vestibular/proprioceptive dysfunction were also differentiated on movement and tactile sensitivity.

  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

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    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. CENTRIOLE REPLICATION

    Science.gov (United States)

    Mizukami, Ikuko; Gall, Joseph

    1966-01-01

    Sperm formation was studied in the fern, Marsilea, and the cycad, Zamia, with particular emphasis on the centrioles. In Marsilea, the mature sperm possesses over 100 flagella, the basal bodies of which have the typical cylindrical structure of centrioles. Earlier observations by light microscopy suggested that these centrioles arise by fragmentation of a body known as the blepharoplast. In the youngest spermatids the blepharoplast is a hollow sphere approximately 0.8 µ in diameter. Its wall consists of closely packed immature centrioles, or procentrioles. The procentrioles are short cylinders which progressively lengthen during differentiation of the spermatid. At the same time they migrate to the surface of the cell, where each of them puts out a flagellum. A blepharoplast is found at each pole of the spindle during the last antheridial mitosis, and two blepharoplasts are found in the cytoplasm before this mitosis. Blepharoplasts are also found in the preceding cell generation, but their ultimate origin is obscure. Before the last mitosis the blepharoplasts are solid, consisting of a cluster of radially arranged tubules which bear some structural similarity to centrioles. In Zamia, similar stages are found during sperm formation, although here the number of flagella on each sperm is close to 20,000 and the blepharoplast measures about 10 µ in diameter. These observations are discussed in relation to theories of centriole replication. PMID:5950730

  19. 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.

  20. Depressive and anxiety symptom trajectories from school age through young adulthood in samples with autism spectrum disorder and developmental delay.

    Science.gov (United States)

    Gotham, Katherine; Brunwasser, Steven M; Lord, Catherine

    2015-05-01

    The objectives of this study were to model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD), and to assess relationships among internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Data were collected between ages 6 and 24 years in 165 participants (n = 109 with ASD; n = 56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3 to 6 months between ages 9 and 24 years. Parent-rated Child Behavior Checklist (CBCL), Adult Behavior Checklist (ABCL), and Developmental Behaviour Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant 2- and 3-way interactions. Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. Although symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by

  1. Biological sex affects the neurobiology of autism.

    Science.gov (United States)

    Lai, Meng-Chuan; 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

    2013-09-01

    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 neurobiology of autism.

  2. 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.

  3. 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

  4. Functional Connectivity Magnetic Resonance Imaging Classification of Autism

    Science.gov (United States)

    Anderson, Jeffrey S.; Nielsen, Jared A.; Froehlich, Alyson L.; DuBray, Molly B.; Druzgal, T. Jason; Cariello, Annahir N.; Cooperrider, Jason R.; Zielinski, Brandon A.; Ravichandran, Caitlin; Fletcher, P. Thomas; Alexander, Andrew L.; Bigler, Erin D.; Lange, Nicholas; Lainhart, Janet E.

    2011-01-01

    Group differences in resting state functional magnetic resonance imaging connectivity between individuals with autism and typically developing controls have been widely replicated for a small number of discrete brain regions, yet the whole-brain distribution of connectivity abnormalities in autism is not well characterized. It is also unclear…

  5. 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.

  6. Infantilizing Autism.

    Science.gov (United States)

    Stevenson, Jennifer L; Harp, Bev; Gernsbacher, Morton Ann

    2011-01-01

    When members of the public envision the disability of autism, they most likely envision a child, rather than an adult. In this empirically based essay, three authors, one of whom is an autistic self-advocate, analyzed the role played by parents, charitable organizations, the popular media, and the news industry in infantilizing autism. Parents portrayed the face of autism to be that of a child 95% of the time on the homepages of regional and local support organizations. Nine of the top 12 autism charitable organizations restricted descriptions of autism to child-referential discourse. Characters depicted as autistic were children in 90% of fictional books and 68% of narrative films and television programs. The news industry featured autistic children four times as often as they featured autistic adults in contemporary news articles. The cyclical interaction between parent-driven autism societies, autism fundraising charities, popular media, and contemporary news silences adult self-advocates by denying their very existence. Society's overwhelming proclivity for depicting autism as a disability of childhood poses a formidable barrier to the dignity and well-being of autistic people of all ages.

  7. 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 / ...

  8. 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.

  9. 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

    2015-08-01

    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 cognitive atypicalities in a large population-based sample comprising children with ASD, their unaffected co-twins, and typically developing comparison children. Participants included families from the Twins Early Development Study (TEDS) where one or both children met diagnostic criteria for ASD. Overall, 181 adolescents with a diagnosis of ASD and 73 unaffected co-twins were included, plus an additional 160 comparison control participants. An extensive cognitive battery was administered to measure IQ, central coherence, executive function, and theory of mind ability. Differences between groups (ASD, co-twin, control) are reported on tasks assessing theory of mind, executive function, and central coherence. The ASD group performed atypically in significantly more cognitive tasks than the unaffected co-twin and control groups. Nearly a third of the ASD group presented with multiple cognitive atypicalities. Multiple cognitive atypicalities appear to be a characteristic, but not universal feature, of ASD. Further work is needed to investigate whether specific cognitive atypicalities, either alone or together, are related to specific behaviours characteristic of ASD. © 2014 The Authors. Journal of Child Psychology and Psychiatry published by John Wiley & Sons Ltd on behalf of Association for Child and Adolescent Mental Health.

  10. Psychotropic Medication Use among Children with Autism Spectrum Disorders within the Simons Simplex Collection: Are Core Features of Autism Spectrum Disorder Related?

    Science.gov (United States)

    Mire, Sarah S.; Nowell, Kerri P.; Kubiszyn, Thomas; Goin-Kochel, Robin P.

    2014-01-01

    Psychotropic medication use and its relationship to autism spectrum core features were examined in a well-characterized but nonstratified North American sample (N = 1605) of children/adolescents diagnosed with autism spectrum disorders utilizing the "Autism Diagnostic Observation Schedule" and the "Autism Diagnostic…

  11. 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…

  12. 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.

  13. Preliminary efficacy of adapted responsive teaching for infants at risk of autism spectrum disorder in a community sample.

    Science.gov (United States)

    Baranek, Grace T; Watson, Linda R; Turner-Brown, Lauren; Field, Samuel H; Crais, Elizabeth R; Wakeford, Linn; Little, Lauren M; Reznick, J Steven

    2015-01-01

    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.

  14. 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

  15. 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.

  16. 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.

  17. 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 sexually dimorphic in neurotypical controls, in both grey and white matter, suggesting neural ‘masculinization’. This was not seen in males with autism. How differences in neuroanatomy relate to the similarities in

  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

    2006-03-01

    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.

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

    OpenAIRE

    Klein, Richard A.; Ratliff, Kate A; Vianello, Michelangelo; Adams Jr., Reginald B; Bahník, Stĕpán; Bernstein, Michael J; Bocian, Konrad; Brandt, Mark J; Brooks, Beach; Brumbaugh, Claudia Chloe; Cemalcilar, Zeynep; Chandler, Jesse; Cheong, Winnee; Davis, William E; Devos, Thierry

    2014-01-01

    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 da...

  20. 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)…

  1. 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

  2. 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…

  3. Comparison of the Bender Gestalt-II and VMI-V in Samples of Typical Children and Children with High-Functioning Autism Spectrum Disorders

    Science.gov (United States)

    Volker, Martin A.; Lopata, Christopher; Vujnovic, Rebecca K.; Smerbeck, Audrey M.; Toomey, Jennifer A.; Rodgers, Jonathan D.; Schiavo, Audrey; Thomeer, Marcus L.

    2010-01-01

    The visual-motor skills of 60 children with high-functioning autism spectrum disorders (HFASDs) and 46 typically developing children were assessed using the Bender Visual-Motor Gestalt Test-Second Edition (BG-II) and Beery-Buktenica Developmental Test of Visual-Motor Integration, Fifth Edition (VMI-V). Within-group comparisons yielded substantive…

  4. 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.

  5. 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...... 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....

  6. 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…

  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. 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

  9. 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.

  10. Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

    OpenAIRE

    Talebizadeh Zohreh; Matuszek Gregory

    2009-01-01

    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 dev...

  11. Change in Autism Symptoms and Maladaptive Behaviors in Adolescents and Adults with an Autism Spectrum Disorder

    OpenAIRE

    Shattuck, Paul T.; Seltzer, Marsha Mailick; Greenberg, Jan S.; Orsmond, Gael I.; Bolt, Daniel; Kring, Sheilah; Lounds, Julie; Lord, Catherine

    2006-01-01

    This study examined change prospectively in autism symptoms and maladaptive behaviors during a 4.5 year period in 241 adolescents and adults with an autism spectrum disorder who were 10–52 years old (mean = 22.0) when the study began. Although many individuals’ symptoms remained stable, a greater proportion of the sample experienced declines than increases in their level of autism symptoms and maladaptive behaviors, and there were significant improvements in mean levels of symptoms. Individua...

  12. 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.

  13. 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.

  14. 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...

  15. Terapi Okupasi Perkembangan Motorik Halus Anak Autisme

    Directory of Open Access Journals (Sweden)

    Evi Hasnita

    2017-02-01

    Full Text Available Anak autis diartikan sebagai gangguan perkembangan pervasif yang ditandai oleh adanya abnormalitas dan kelainan yang muncul sebelum anak berusia 3 tahun. Hampir semua anak autisme mempunyai keterlambatan dalam perkembangan motorik halus. Penelitian ini bertujuan untuk mengetahui efektifitas terapi okupasi terhadap perkembangan motorik halus anak dengan autisme di Sekolah Luar Biasa (SLB Khusus Autis Al-Ikhlas Bukittinggi tahun 2014. Menggunakan rancangan penelitian eksperimen dengan menggunakan One Group Pretest Post Test Design, dengan cara total sampling dan jumlah sampel 13 orang. Hasil penelitian didapatkan sebelum intervensi yaitu mean 3,62 (diragukan dan setelah intervensi menjadi mean 7,85 (sesuai tahap perkembangan dimana p value = 0.00 (α<0.05. Dapat disimpulkan bahwa terapi okupasi efektif terhadap perkembangan motorik halus anak dengan autisme dan kepada pihak petugas sekolah autis agar dapat secara rutin melaksanakan terapi okupasi sebagai salah satu intervensi keperawatan terhadap perkembangan motorik halus anak dengan autisme. Diharapkan dengan adanya penelitian ini, terapi yang telah diteliti dapat berguna dalam memberikan intervensi khususnya anak yang mengalami gangguan motorik halus agar bisa lebih mandiri. Kata kunci: Terapi Okupasi, Motorik Halus, Anak Autisme This study aims to determine the effectiveness of occupational therapy on the development of fine motor skills in children with autism in Al-Ikhlas Special Children’s School (SCS for Autism Bukittinggi 2014.This research was conducted by observation in SCS for Autism Al-Ikhlas from November 2014 until December 2014. The design of this research was an experimental research using One Group Pretest Post Test Design. The sample was taken by using total sampling technique with the total sample of 13 people. The result of this research showed the average of stimulation in child’s development before the intervention, was 3.62 (doubtful and after the intervention, the

  16. 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…

  17. 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

  18. Change in Autism Symptoms and Maladaptive Behaviors in Adolescents and Adults with an Autism Spectrum Disorder

    Science.gov (United States)

    Shattuck, Paul T.; Seltzer, Marsha Mailick; Greenberg, Jan S.; Orsmond, Gael I.; Bolt, Daniel; Kring, Sheilah; Lounds, Julie; Lord, Catherine

    2007-01-01

    This study examined change prospectively in autism symptoms and maladaptive behaviors during a 4.5 year period in 241 adolescents and adults with an autism spectrum disorder who were 10-52 years old (mean=22.0) when the study began. Although many individuals' symptoms remained stable, a greater proportion of the sample experienced declines than…

  19. 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.

  20. 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

  1. 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.

  2. DNA Virus Replication Compartments

    Science.gov (United States)

    Schmid, Melanie; Speiseder, Thomas; Dobner, Thomas

    2014-01-01

    Viruses employ a variety of strategies to usurp and control cellular activities through the orchestrated recruitment of macromolecules to specific cytoplasmic or nuclear compartments. Formation of such specialized virus-induced cellular microenvironments, which have been termed viroplasms, virus factories, or virus replication centers, complexes, or compartments, depends on molecular interactions between viral and cellular factors that participate in viral genome expression and replication and are in some cases associated with sites of virion assembly. These virus-induced compartments function not only to recruit and concentrate factors required for essential steps of the viral replication cycle but also to control the cellular mechanisms of antiviral defense. In this review, we summarize characteristic features of viral replication compartments from different virus families and discuss similarities in the viral and cellular activities that are associated with their assembly and the functions they facilitate for viral replication. PMID:24257611

  3. Primary olfactory cortex in autism and epilepsy: increased glial cells in autism.

    Science.gov (United States)

    Menassa, David A; Sloan, Carolyn; Chance, Steven A

    2017-07-01

    Autism Spectrum Disorder is characterized by sensory anomalies including impaired olfactory identification. Between 5 and 46 percent of individuals with autism have a clinical diagnosis of epilepsy. Primary olfactory cortex (piriform cortex) is central to olfactory identification and is an epileptogenic structure. Cytoarchitectural changes in olfactory cortex may underlie olfactory differences seen in autism. Primary olfactory cortex was sampled from 17 post-mortem autism cases with and without epilepsy, 11 epilepsy cases without autism and 11 typically developed cases. Stereological and neuropathological methods were used to quantify glial, pyramidal and non-pyramidal cell densities in layers of the piriform as well as identify pathological differences in this area and its neighbouring region, the olfactory tubercle. We found increased layer II glial cell densities in autism with and without epilepsy, which were negatively correlated with age and positively correlated with levels of corpora amylacea in layer I. These changes were also associated with greater symptom severity and did not extend to the olfactory tubercle. Glial cell organization may follow an altered trajectory of development with age in autism. The findings are consistent with other studies implicating increased glial cells in the autism brain. Altered cytoarchitecture may contribute to sensory deficits observed in affected individuals. This study provides evidence that autism is linked to alterations in the cytoarchitectural structure that underlies primary sensory processes and is not restricted to heteromodal ("higher") cognitive centers. © 2016 International Society of Neuropathology.

  4. Is psychology suffering from a replication crisis? What does "failure to replicate" really mean?

    Science.gov (United States)

    Maxwell, Scott E; Lau, Michael Y; Howard, George S

    2015-09-01

    Psychology has recently been viewed as facing a replication crisis because efforts to replicate past study findings frequently do not show the same result. Often, the first study showed a statistically significant result but the replication does not. Questions then arise about whether the first study results were false positives, and whether the replication study correctly indicates that there is truly no effect after all. This article suggests these so-called failures to replicate may not be failures at all, but rather are the result of low statistical power in single replication studies, and the result of failure to appreciate the need for multiple replications in order to have enough power to identify true effects. We provide examples of these power problems and suggest some solutions using Bayesian statistics and meta-analysis. Although the need for multiple replication studies may frustrate those who would prefer quick answers to psychology's alleged crisis, the large sample sizes typically needed to provide firm evidence will almost always require concerted efforts from multiple investigators. As a result, it remains to be seen how many of the recently claimed failures to replicate will be supported or instead may turn out to be artifacts of inadequate sample sizes and single study replications. (PsycINFO Database Record (c) 2015 APA, all rights reserved).

  5. Adenovirus DNA Replication

    Science.gov (United States)

    Hoeben, Rob C.; Uil, Taco G.

    2013-01-01

    Adenoviruses have attracted much attention as probes to study biological processes such as DNA replication, transcription, splicing, and cellular transformation. More recently these viruses have been used as gene-transfer vectors and oncolytic agents. On the other hand, adenoviruses are notorious pathogens in people with compromised immune functions. This article will briefly summarize the basic replication strategy of adenoviruses and the key proteins involved and will deal with the new developments since 2006. In addition, we will cover the development of antivirals that interfere with human adenovirus (HAdV) replication and the impact of HAdV on human disease. PMID:23388625

  6. 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.

  7. 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…

  8. Animal Mitochondrial DNA Replication

    Science.gov (United States)

    Ciesielski, Grzegorz L.; Oliveira, Marcos T.; Kaguni, Laurie S.

    2016-01-01

    Recent advances in the field of mitochondrial DNA (mtDNA) replication highlight the diversity of both the mechanisms utilized and the structural and functional organization of the proteins at mtDNA replication fork, despite the simplicity of the animal mtDNA genome. DNA polymerase γ, mtDNA helicase and mitochondrial single-stranded DNA-binding protein- the key replisome proteins, have evolved distinct structural features and biochemical properties. These appear to be correlated with mtDNA genomic features in different metazoan taxa and with their modes of DNA replication, although a substantial integrative research is warranted to establish firmly these links. To date, several modes of mtDNA replication have been described for animals: rolling circle, theta, strand-displacement, and RITOLS/bootlace. Resolution of a continuing controversy relevant to mtDNA replication in mammals/vertebrates will have a direct impact on the mechanistic interpretation of mtDNA-related human diseases. Here we review these subjects, integrating earlier and recent data to provide a perspective on the major challenges for future research. PMID:27241933

  9. 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 ...

  10. Configuring the autism epidemic

    DEFF Research Database (Denmark)

    Seeberg, Jens; Christensen, Fie Lund Lindegaard

    2017-01-01

    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.......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...

  11. Medical homes for children with autism: a physician survey.

    Science.gov (United States)

    Golnik, Allison; Ireland, Marjorie; Borowsky, Iris Wagman

    2009-03-01

    Primary care physicians can enhance the health and quality of life of children with autism by providing high-quality and comprehensive primary care. To explore physicians' perspectives on primary care for children with autism. National mail and e-mail surveys were sent to a random sample of 2325 general pediatricians and 775 family physicians from April 2007 to October 2007. The response rate was 19%. Physicians reported significantly lower overall self-perceived competency, a greater need for primary care improvement, and a greater desire for education for children with autism compared with both children with other neurodevelopmental conditions and those with chronic/complex medical conditions. The following barriers to providing primary care were endorsed as greater for children with autism: lack of care coordination, reimbursement and physician education, family skeptical of traditional medicine and vaccines, and patients using complementary alternative medicine. Adjusting for key demographic variables, predictors of both higher perceived autism competency and encouraging an empirically supported therapy, applied behavior analysis, included having a greater number of autism patient visits, having a friend or relative with autism, and previous training about autism. Primary care physicians report a lack of self-perceived competency, a desire for education, and a need for improvement in primary care for children with autism. Physician education is needed to improve primary care for children with autism. Practice parameters and models of care should address physician-reported barriers to care.

  12. 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…

  13. 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…

  14. The Pathophysiology of Autism

    OpenAIRE

    Compart, Pamela J.

    2013-01-01

    Autism has been classically defined by its behavioral symptoms. Traditional medical research has focused on genetic or intrinsic brain-based causes of autism. While both of these are important, additional research has focused on the underlying disordered biochemistry seen in many individuals with autism. Many of these biomedical factors are amenable to treatment. This article will review the main pathophysiologic factors seen in individuals with autism spectrum disorders.

  15. Psychology, replication & beyond.

    Science.gov (United States)

    Laws, Keith R

    2016-06-01

    Modern psychology is apparently in crisis and the prevailing view is that this partly reflects an inability to replicate past findings. If a crisis does exists, then it is some kind of 'chronic' crisis, as psychologists have been censuring themselves over replicability for decades. While the debate in psychology is not new, the lack of progress across the decades is disappointing. Recently though, we have seen a veritable surfeit of debate alongside multiple orchestrated and well-publicised replication initiatives. The spotlight is being shone on certain areas and although not everyone agrees on how we should interpret the outcomes, the debate is happening and impassioned. The issue of reproducibility occupies a central place in our whig history of psychology.

  16. Registered Replication Report

    DEFF Research Database (Denmark)

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

    2017-01-01

    In an anonymous 4-person economic game, participants contributed more money to a common project (i.e., cooperated) when required to decide quickly than when forced to delay their decision (Rand, Greene & Nowak, 2012), a pattern consistent with the social heuristics hypothesis proposed by Rand...... 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...

  17. Replication, refinement & reachability

    DEFF Research Database (Denmark)

    Debois, Søren; Hildebrandt, Thomas T.; Slaats, Tijs

    2018-01-01

    We explore the complexity of reachability and run-time refinement under safety and liveness constraints in event-based process models. Our study is framed in the DCR? process language, which supports modular specification through a compositional operational semantics. DCR? encompasses the “Dynamic...... Condition Response (DCR) graphs” declarative process model for analysis, execution and safe run-time refinement of process-aware information systems; including replication of sub-processes. We prove that event-reachability and refinement are np-hard for DCR? processes without replication...

  18. 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 ... of CDC’s work. Autism: What's New Prevalence of Autism Spectrum Disorder Data Community Report Press Release Learn the Signs. ...

  19. Autism and Learning Disability

    Science.gov (United States)

    O'Brien, Gregory; Pearson, Joanne

    2004-01-01

    In this article a short overview is given of the relationship between autism and learning disability. Autism exists with any level of intelligence, but many individuals with autism suffer also from learning disability. Although both disorders show overlap in some behaviours they are different in many aspects. Are they distinct syndromes which…

  20. 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…

  1. 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.

  2. 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

  3. Human Mitochondrial DNA Replication

    Science.gov (United States)

    Holt, Ian J.; Reyes, Aurelio

    2012-01-01

    Elucidation of the process of DNA replication in mitochondria is in its infancy. For many years, maintenance of the mitochondrial genome was regarded as greatly simplified compared to the nucleus. Mammalian mitochondria were reported to lack all DNA repair systems, to eschew DNA recombination, and to possess but a single DNA polymerase, polymerase γ. Polγ was said to replicate mitochondrial DNA exclusively via one mechanism, involving only two priming events and a handful of proteins. In this “strand-displacement model,” leading strand DNA synthesis begins at a specific site and advances approximately two-thirds of the way around the molecule before DNA synthesis is initiated on the “lagging” strand. Although the displaced strand was long-held to be coated with protein, RNA has more recently been proposed in its place. Furthermore, mitochondrial DNA molecules with all the features of products of conventional bidirectional replication have been documented, suggesting that the process and regulation of replication in mitochondria is complex, as befits a genome that is a core factor in human health and longevity. PMID:23143808

  4. 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...

  5. Effects of Serial and Concurrent Training on Receptive Identification Tasks: A Systematic Replication

    Science.gov (United States)

    Wunderlich, Kara L.; Vollmer, Timothy R.

    2017-01-01

    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…

  6. Anger, Stress Proliferation, and Depressed Mood among Parents of Children with ASD: A Longitudinal Replication

    Science.gov (United States)

    Benson, Paul R.; Karlof, Kristie L.

    2009-01-01

    "Stress proliferation" (the tendency for stressors to create additional stressors) has been suggested as an important contributor to depression among caregivers. The present study utilized longitudinal data from 90 parents of children with ASD to replicate and extend a prior cross-sectional study on stress proliferation by Benson (J Autism Develop…

  7. Commentary: The Modified Checklist for Autism in Toddlers.

    Science.gov (United States)

    Charman, Tony; Baron-Cohen, Simon; Baird, Gillian; Cox, Antony; Wheelwright, Sally; Swettenham, John; Drew, Auriol

    2001-01-01

    This article comments on results of a study (EC 629 869) on the reliability of the Modified Checklist for Autism in Toddlers (M-CHAT), a early detection screening test. It discusses concerns relating to clinic vs. population samples, data analysis, use of a parent questionnaire only to identify autism, and the age of screening. (Contains…

  8. 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…

  9. 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…

  10. 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.

  11. How are autism and schizotypy related? Evidence from a non-clinical population.

    Directory of Open Access Journals (Sweden)

    Natalie L Dinsdale

    Full Text Available Both autism spectrum conditions (ASCs and schizophrenia spectrum conditions (SSCs involve altered or impaired social and communicative functioning, but whether these shared features indicate overlapping or different etiological factors is unknown. We outline three hypotheses (overlapping, independent, and diametric for the possible relationship between ASCs and SSCs, and compare their predictions for the expected relationships between autistic and schizotypal phenotypes using the Autism Spectrum Quotient and the Schizotypal Personality Questionnaire-Brief Revised from a large non-clinical sample of undergraduate students. Consistent with previous research, autistic features were positively associated with several schizotypal features, with the most overlap occurring between interpersonal schizotypy and autistic social and communication phenotypes. The first component of a principal components analysis (PCA of subscale scores reflected these positive correlations, and suggested the presence of an axis (PC1 representing general social interest and aptitude. By contrast, the second principal component (PC2 exhibited a pattern of positive and negative loadings indicative of an axis from autism to positive schizotypy, such that positive schizotypal features loaded in the opposite direction to core autistic features. These overall PCA patterns were replicated in a second data set from a Japanese population. To evaluate the validity of our interpretation of the PCA results, we measured handedness and mental rotation ability, as these are established correlates of SSCs and ASCs, respectively. PC2 scores were significantly associated with hand preference, such that increasingly 'schizotypal' scores predicted reduced strength of handedness, which is consistent with previous research. PC1 scores were positively related to performance on the mental rotation task, suggesting trade-offs between social skills and visual-spatial ability. These results provide

  12. Predicting Behavior Assessment System for Children-Second Edition Self-Report of Personality Child Form Results Using the Behavioral and Emotional Screening System Student Form: A Replication Study with an Urban, Predominantly Latino/a Sample

    Science.gov (United States)

    Kiperman, Sarah; Black, Mary S.; McGill, Tia M.; Harrell-Williams, Leigh M.; Kamphaus, Randy W.

    2014-01-01

    This study assesses the ability of a brief screening form, the Behavioral and Emotional Screening System-Student Form (BESS-SF), to predict scores on the much longer form from which it was derived: the Behavior Assessment System for Children-Second Edition Self-Report of Personality-Child Form (BASC-2-SRP-C). The present study replicates a former…

  13. 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

  14. 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…

  15. 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, ...

  16. 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.

  17. Translation and validation of Autism Diagnostic Interview-Revised (ADI-R) for autism diagnosis in Brazil.

    Science.gov (United States)

    Becker, Michele M; Wagner, Mário B; Bosa, Cleonice A; Schmidt, Carlo; Longo, Danae; Papaleo, Clarissa; Riesgo, Rudimar S

    2012-03-01

    To translate into Brazilian Portuguese the Autism Diagnostic Interview-Revised (ADI-R), an extremely useful diagnostic tool in autism. 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. 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. 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.

  18. [Schooling of patients exhibiting Autism Spectrum Disorders without mental retardation].

    Science.gov (United States)

    Grimm, D; Assouline, B; Piero, A

    2015-12-01

    Autism Spectrum Disorders belong to Pervasive Development Disorders. Although access to education is recommended by the French National High Authority for Health (HAS), the practice remains limited and the reasons for the low education rate of these children have still not been sufficiently explored in the literature. The main objective of this study was to analyze the links between Autism Spectrum Disorder without mental retardation, psychiatric comorbidity and education. The secondary objective was to analyze the cognitive and contextual factors that could limit educational inclusion. Eighty-three autistic patients (3-18years old; 73 males and 10 females) with childhood autism, atypical autism or Asperger's syndrome (criteria from the International Classification of Diseases-10) without mental retardation and in education were assessed at the Alpine Centre for Early Diagnosis of Autism. The sample included 45 subjects with childhood autism, 12 subjects with atypical autism and 26 subjects with Asperger's syndrome. The diagnosis was based on the Autism Diagnostic Interview Revised (ADI-R), in accordance with the recommendations of the HAS, the Autism Diagnostic Observation Schedule (ADOS) and the Wechsler Intelligence Scale for Children, 4th edition (WISC-IV). Our results showed that childhood autism and atypical autism were mainly found in nursery and primary school, whereas Asperger's syndrome was mainly found in secondary school (Chi(2)=18.23; df=6; Pautism and atypical autism were more likely to receive the support of a special educational assistant (Chi(2)=15.61; df=2; Pautism and atypical autism (respectively, F=23.11, PAutism Spectrum Disorders and neuropsychological functioning, as assessed by WISC-IV, along a continuum that ranges from childhood autism (more needs and deficits) to atypical autism to Asperger's syndrome. The Verbal Comprehension Index (VCI) and the Processing Speed Index (PSI) could be used to evaluate the number of hours of support needed

  19. Multicultural issues in autism.

    Science.gov (United States)

    Dyches, Tina Taylor; Wilder, Lynn K; Sudweeks, Richard R; Obiakor, Festus E; Algozzine, Bob

    2004-04-01

    The professional literature provides ample evidence that individuals with autism exhibit a myriad of unusual social, communication, and behavioral patterns of interactions that present challenges to their families and service providers. However, there is a dearth of quality works on multicultural issues regarding autistic spectrum disorders. In this article, we explore issues surrounding autism and multiculturalism, with the intent not to provide answers but to raise questions for further examination. We focus our discussions on two primary issues: autism within cultural groups and multicultural family adaptation based on the framework of pluralistic societies in which some cultural groups are a minority within the dominant culture. We found differences in prevalence rates across races for autism and little information regarding how multicultural families adapt to raising a child with autism. Further, students with multicultural backgrounds and autism are challenged on at least four dimensions: communication, social skills, behavioral repertoires, and culture. Future research in these areas is clearly warranted.

  20. 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…

  1. Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data.

    Directory of Open Access Journals (Sweden)

    Valerie W Hu

    Full Text Available The heterogeneity of symptoms associated with autism spectrum disorders (ASDs has presented a significant challenge to genetic analyses. Even when associations with genetic variants have been identified, it has been difficult to associate them with a specific trait or characteristic of autism. Here, we report that quantitative trait analyses of ASD symptoms combined with case-control association analyses using distinct ASD subphenotypes identified on the basis of symptomatic profiles result in the identification of highly significant associations with 18 novel single nucleotide polymorphisms (SNPs. The symptom categories included deficits in language usage, non-verbal communication, social development, and play skills, as well as insistence on sameness or ritualistic behaviors. Ten of the trait-associated SNPs, or quantitative trait loci (QTL, were associated with more than one subtype, providing partial replication of the identified QTL. Notably, none of the novel SNPs is located within an exonic region, suggesting that these hereditary components of ASDs are more likely related to gene regulatory processes (or gene expression than to structural or functional changes in gene products. Seven of the QTL reside within intergenic chromosomal regions associated with rare copy number variants that have been previously reported in autistic samples. Pathway analyses of the genes associated with the QTL identified in this study implicate neurological functions and disorders associated with autism pathophysiology. This study underscores the advantage of incorporating both quantitative traits as well as subphenotypes into large-scale genome-wide analyses of complex disorders.

  2. 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.

  3. 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.

  4. 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.

  5. DNA replication origins in archaea

    Directory of Open Access Journals (Sweden)

    Zhenfang eWu

    2014-04-01

    Full Text Available DNA replication initiation, which starts at specific chromosomal site (known as replication origins, is the key regulatory stage of chromosome replication. Archaea, the third domain of life, use a single or multiple origin(s to initiate replication of their circular chromosomes. The basic structure of replication origins is conserved among archaea, typically including an AT-rich unwinding region flanked by several conserved repeats (origin recognition box, ORB that are located adjacent to a replication initiator gene. Both the ORB sequence and the adjacent initiator gene are considerably diverse among different replication origins, while in silico and genetic analyses have indicated the specificity between the initiator genes and their cognate origins. These replicator-initiator pairings are reminiscent of the oriC-dnaA system in bacteria, and a model for the negative regulation of origin activity by a downstream cluster of ORB elements has been recently proposed in haloarchaea. Moreover, comparative genomic analyses have revealed that the mosaics of replicator-initiator pairings in archaeal chromosomes originated from the integration of extrachromosomal elements. This review summarizes the research progress in understanding of archaeal replication origins with particular focus on the utilization, control and evolution of multiple replication origins in haloarchaea.

  6. Replication ofVibrio choleraeclassical CTX phage.

    Science.gov (United States)

    Kim, Eun Jin; Yu, Hyun Jin; Lee, Je Hee; Kim, Jae-Ouk; Han, Seung Hyun; Yun, Cheol-Heui; Chun, Jongsik; Nair, G Balakrish; Kim, Dong Wook

    2017-02-28

    The toxigenic classical and El Tor biotype Vibrio cholerae serogroup O1 strains are generated by lysogenization of host-type-specific cholera toxin phages (CTX phages). Experimental evidence of the replication and transmission of an El Tor biotype-specific CTX phage, CTX-1, has explained the evolution of V. cholerae El Tor biotype strains. The generation of classical biotype strains has not been demonstrated in the laboratory, and the classical biotype-specific CTX phage, CTX-cla, is considered to be defective with regard to replication. However, the identification of atypical El Tor strains that contain CTX-cla-like phage, CTX-2, indicates that CTX-cla and CTX-2 replicate and can be transmitted to V. cholerae strains. The replication of CTX-cla and CTX-2 phages and the transduction of El Tor biotype strains by various CTX phages under laboratory conditions are demonstrated in this report. We have established a plasmid-based CTX phage replication system that supports the replication of CTX-1, CTX-cla, CTX-2, and CTX-O139. The replication of CTX-2 from the tandem repeat of lysogenic CTX-2 in Wave 2 El Tor strains is also presented. El Tor biotype strains can be transduced by CTX phages in vitro by introducing a point mutation in toxT , the transcriptional activator of the tcp (toxin coregulated pilus) gene cluster and the cholera toxin gene. This mutation also increases the expression of cholera toxin in El Tor strains in a sample single-phase culture. Our results thus constitute experimental evidence of the genetic mechanism of the evolution of V. cholerae .

  7. 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.

  8. The replication of expansive production knowledge

    DEFF Research Database (Denmark)

    Wæhrens, Brian Vejrum; Yang, Cheng; Madsen, Erik Skov

    2012-01-01

    Purpose – With the aim to support offshore production line replication, this paper specifically aims to explore the use of templates and principles to transfer expansive productive knowledge embedded in a production line and understand the contingencies that influence the mix of these approaches...... exploration, the small sample size is an obvious limitation for generalisation. Practical implications – A roadmap for knowledge transfer within the replication of a production line is suggested, which, together with four managerial suggestions, provides strong support and clear directions to managers....... Originality/value – Research in replication to date has mostly focused on templates and has mainly taken an organizational perspective. This paper shows its potential contribution on bridging the relevant theoretical gaps by (1) addressing the effects of principles; and (2) exploring how to use templates...

  9. Nutritional and metabolic status of children with autism vs. neurotypical children, and the association with autism severity.

    Science.gov (United States)

    Adams, James B; Audhya, Tapan; McDonough-Means, Sharon; Rubin, Robert A; Quig, David; Geis, Elizabeth; Gehn, Eva; Loresto, Melissa; Mitchell, Jessica; Atwood, Sharon; Barnhouse, Suzanne; Lee, Wondra

    2011-06-08

    The relationship between relative metabolic disturbances and developmental disorders is an emerging research focus. This study compares the nutritional and metabolic status of children with autism with that of neurotypical children and investigates the possible association of autism severity with biomarkers. Participants were children ages 5-16 years in Arizona with Autistic Spectrum Disorder (n = 55) compared with non-sibling, neurotypical controls (n = 44) of similar age, gender and geographical distribution. Neither group had taken any vitamin/mineral supplements in the two months prior to sample collection. Autism severity was assessed using the Pervasive Development Disorder Behavior Inventory (PDD-BI), Autism Treatment Evaluation Checklist (ATEC), and Severity of Autism Scale (SAS). Study measurements included: vitamins, biomarkers of vitamin status, minerals, plasma amino acids, plasma glutathione, and biomarkers of oxidative stress, methylation, sulfation and energy production. Biomarkers of children with autism compared to those of controls using a t-test or Wilcoxon test found the following statistically significant differences (p Autism group, mean levels of vitamins, minerals, and most amino acids commonly measured in clinical care were within published reference ranges.A stepwise, multiple linear regression analysis demonstrated significant associations between several groups of biomarkers with all three autism severity scales, including vitamins (adjusted R2 of 0.25-0.57), minerals (adj. R2 of 0.22-0.38), and plasma amino acids (adj. R2 of 0.22-0.39). The autism group had many statistically significant differences in their nutritional and metabolic status, including biomarkers indicative of vitamin insufficiency, increased oxidative stress, reduced capacity for energy transport, sulfation and detoxification. Several of the biomarker groups were significantly associated with variations in the severity of autism. These nutritional and metabolic

  10. 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.

  11. Atypical coordination of cortical oscillations in response to speech in autism

    Directory of Open Access Journals (Sweden)

    Delphine eJochaut

    2015-03-01

    Full Text Available Subjects with autism often show language difficulties, but it is unclear how they relate to neurophysiological anomalies of cortical speech processing. We used combined EEG and fMRI in 13 subjects with autism and 13 control participants and show that in autism, gamma and theta cortical activity do not engage synergistically in response to speech. Theta activity in left auditory cortex fails to track speech modulations in the group with autism and to down-regulate gamma oscillations. This deficit predicts the severity of both verbal impairment and autism symptoms in the affected sample. Finally, we found that oscillation-based connectivity between auditory and other language cortices is altered in autism. These results suggest that the verbal disorder in autism could be associated with the altered balance of slow and fast auditory oscillations, and that this anomaly could compromise the mapping between sensory input and higher-level cognitive representations.

  12. Autism and Rhetoric

    Science.gov (United States)

    Heilker, Paul; Yergeau, Melanie

    2011-01-01

    Autism is a profoundly rhetorical phenomenon. And all--parents, educators, caregivers, policymakers, the public, and autistic people themselves--would be significantly empowered to understand and respond to it as such. In the continuing absence of stable scientific or medical knowledge about autism, one needs to shine a bright and insistent light…

  13. Autism and attachment security

    NARCIS (Netherlands)

    Rutgers, Anna Hinderika

    2006-01-01

    Autisme en veilige gehechtheid Men heeft lang gedacht dat kinderen met autisme, door hun problemen in sociale interacties en communicatie, niet in staat zijn om een emotionele band te ontwikkelen met hun ouders, met andere woorden zich te hechten aan hun ouders. Empirisch onderzoek heeft echter

  14. Psychophysiological perspectives on autism

    NARCIS (Netherlands)

    Hoeksma, Marco Rudolf

    2002-01-01

    Autism is a severe developmental neuropsychiatric disorder, with an onset in the first three years of life. It essentially affects aspects of behaviour which are generally regarded as 'human'. Core characteristics of autism are abnormalities in language, communication and soical interaction,

  15. Trajectory of Externalizing Child Behaviors in a KEEP Replication

    Science.gov (United States)

    Uretsky, Mathew C.; Lee, Bethany R.; Greeno, Elizabeth J.; Barth, Richard P.

    2017-01-01

    Objective: The purpose of this study is to examine the correlates of child behavior change over time in a replication of the KEEP intervention. Method: The study sample was drawn from the treatment group of the Maryland replication of KEEP (n=65). Change over time was analyzed using multilevel linear mixed modeling. Results: Parents' use of…

  16. 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.

  17. Sensory correlations in autism.

    Science.gov (United States)

    Kern, Janet K; Trivedi, Madhukar H; Grannemann, Bruce D; Garver, Carolyn R; Johnson, Danny G; Andrews, Alonzo A; Savla, Jayshree S; Mehta, Jyutika A; Schroeder, Jennifer L

    2007-03-01

    This study examined the relationship between auditory, visual, touch, and oral sensory dysfunction in autism and their relationship to multisensory dysfunction and severity of autism. The Sensory Profile was completed on 104 persons with a diagnosis of autism, 3 to 56 years of age. Analysis showed a significant correlation between the different processing modalities using total scores. Analysis also showed a significant correlation between processing modalities for both high and low thresholds, with the exception that auditory high threshold processing did not correlate with oral low threshold or touch low threshold processing. Examination of the different age groups suggests that sensory disturbance correlates with severity of autism in children, but not in adolescents and adults. Evidence from this study suggests that: all the main modalities and multisensory processing appear to be affected; sensory processing dysfunction in autism is global in nature; and sensory processing problems need to be considered part of the disorder.

  18. Sexual Orientation in Autism Spectrum Disorder.

    Science.gov (United States)

    George, R; Stokes, M A

    2018-01-01

    Clinical impressions suggest a different sexual profile between individuals with and without Autism Spectrum Disorder (ASD). Little is presently known about the demographics of sexual orientation in ASD. Sexual Orientation was surveyed using the Sell Scale of Sexual Orientation in an international online sample of individuals with ASD (N = 309, M = 90, F= 219), aged (M = 32.30 years, SD = 11.93) and this was compared to sexual orientation of typically-developing individuals (N = 310, M = 84, F= 226), aged (M = 29.82 years, SD = 11.85). Findings suggested that sexual orientation was contingent on diagnosis (N = 570, χ 2 (9) =104.05, P Autism Res 2018, 11: 133-141. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Research suggests that individuals with Autism Spectrum Disorder (ASD) report increased homosexuality, bisexuality, and asexuality, but decreased heterosexuality. It is important to increase awareness about increased non-heterosexuality in ASD among autistic populations, medical professionals and care-takers, so as to provide specialized care, if needed and increase support and inclusion for non-heterosexual autistic individuals. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  19. Elevated fetal steroidogenic activity in autism

    Science.gov (United States)

    Baron-Cohen, S; Auyeung, B; Nørgaard-Pedersen, B; Hougaard, D M; Abdallah, M W; Melgaard, L; Cohen, A S; Chakrabarti, B; Ruta, L; Lombardo, M V

    2015-01-01

    Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen's d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism. PMID:24888361

  20. 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.

  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. 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

  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 * Communicat ion 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. 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...... synthesis is perturbed, cells can suffer loss of both genome and epigenome integrity with severe consequences for the organism....

  5. What is known about autism: genes, brain, and behavior.

    Science.gov (United States)

    Santangelo, Susan L; Tsatsanis, Katherine

    2005-01-01

    Autism is a neurodevelopmental disorder of genetic origins, with a heritability of about 90%. Autistic disorder is classed within the broad domain of pervasive developmental disorders (PDD) that also includes Rett syndrome, childhood disintegrative disorder, Asperger syndrome, and PDD not otherwise specified (PDD-NOS). Prevalence estimates suggest a rate of 0.1-0.2% for autism and 0.6% for the range of PDD disorders. There is considerable phenotypic heterogeneity within this class of disorders as well as continued debate regarding their clinical boundaries. Autism is the prototypical PDD, and is characterized by impairments in three core domains: social interaction, language development, and patterns of behavior (restricted and stereotyped). Clinical pattern and severity of impairment vary along these dimensions, and the level of cognitive functioning of individuals with autism spans the entire range, from profound mental retardation to superior intellect. There is no single biological or clinical marker for autism, nor is it expected that a single gene is responsible for its expression; as many as 15+ genes may be involved. However, environmental influences are also important, as concordance in monozygotic twins is less than 100% and the phenotypic expression of the disorder varies widely, even within monozygotic twins. Multiple susceptibility factors are being explored using varied methodologies, including genome-wide linkage studies, and family- and case-control candidate gene association studies. This paper reviews what is currently known about the genetic and environmental risk factors, neuropathology, and psychopharmacology of autism. Discussion of genetic factors focuses on the findings from linkage and association studies, the results of which have implicated the involvement of nearly every chromosome in the human genome. However, the most consistently replicated linkage findings have been on chromosome 7q, 2q, and 15q. The positive associations from

  6. Parental psychiatric disorders and autism spectrum disorders

    Science.gov (United States)

    Jokiranta, Elina; Brown, Alan S.; Heinimaa, Markus; Cheslack-Postava, Keely; Partanen, Auli; Sourander, Andre

    2013-01-01

    The present population-based, case-control study examines associations between specific parental psychiatric disorders and autism spectrum disorders (ASD) including childhood autism, Asperger’s syndrome and pervasive developmental disorder (PDD-NOS). The cohort includes 4713 children born between 1987 and 2005 with diagnoses of childhood autism, Asperger’s syndrome or PDD-NOS. Cases were ascertained from the Finnish Hospital Discharge Register, and each was matched to four controls by gender, date of birth, place of birth, and residence in Finland. Controls were selected from the Finnish Medical Birth Register. Parents were identified through the Finnish Medical Birth Register and Finnish Central Population Register. Parental psychiatric diagnoses from inpatient care were collected from the Finnish Hospital Discharge Register. Conditional logistic regression models were used to assess whether parents’ psychiatric disorders predicted ASD after controlling for parents’ age, smoking during pregnancy and weight for gestational age. In summary, parental schizophrenia spectrum disorders and affective disorders were associated with the risk of ASD regardless of the subgroup. PDD-NOS was associated with all parental psychiatric disorders investigated. Further studies are needed to replicate these findings. These results may facilitate the investigation of shared genetic and familial factors between ASD and other psychiatric disorders. PMID:23391634

  7. 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…

  8. Nutritional and metabolic status of children with autism vs. neurotypical children, and the association with autism severity

    Directory of Open Access Journals (Sweden)

    Gehn Eva

    2011-06-01

    Full Text Available Abstract Background The relationship between relative metabolic disturbances and developmental disorders is an emerging research focus. This study compares the nutritional and metabolic status of children with autism with that of neurotypical children and investigates the possible association of autism severity with biomarkers. Method Participants were children ages 5-16 years in Arizona with Autistic Spectrum Disorder (n = 55 compared with non-sibling, neurotypical controls (n = 44 of similar age, gender and geographical distribution. Neither group had taken any vitamin/mineral supplements in the two months prior to sample collection. Autism severity was assessed using the Pervasive Development Disorder Behavior Inventory (PDD-BI, Autism Treatment Evaluation Checklist (ATEC, and Severity of Autism Scale (SAS. Study measurements included: vitamins, biomarkers of vitamin status, minerals, plasma amino acids, plasma glutathione, and biomarkers of oxidative stress, methylation, sulfation and energy production. Results Biomarkers of children with autism compared to those of controls using a t-test or Wilcoxon test found the following statistically significant differences (p A stepwise, multiple linear regression analysis demonstrated significant associations between several groups of biomarkers with all three autism severity scales, including vitamins (adjusted R2 of 0.25-0.57, minerals (adj. R2 of 0.22-0.38, and plasma amino acids (adj. R2 of 0.22-0.39. Conclusion The autism group had many statistically significant differences in their nutritional and metabolic status, including biomarkers indicative of vitamin insufficiency, increased oxidative stress, reduced capacity for energy transport, sulfation and detoxification. Several of the biomarker groups were significantly associated with variations in the severity of autism. These nutritional and metabolic differences are generally in agreement with other published results and are likely amenable to

  9. 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…

  10. 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

  11. 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.

  12. 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

  13. The Grieving Process Experienced Family and Charges in Treating Children with Autism

    OpenAIRE

    Koesoemo, Rizki Fitryasari Patra

    2010-01-01

    Introduction: Children with autism will be a stressor to their family. This research aims to describe about family grieving process and family burden when taking care of their children with autism at Special Needs School Bangun Bangsa, Surabaya. Method: This research used descriptive phenomenology design with indepth interview method. The participant of this research was six member of a family who plays role as the main caregiver for autism child. This study employs the purposive sampling met...

  14. The Autism Spectrum Quotient: Children's Version (AQ-Child)

    Science.gov (United States)

    Auyeung, Bonnie; Baron-Cohen, Simon; Wheelwright, Sally; Allison, Carrie

    2008-01-01

    The Autism Spectrum Quotient-Children's Version (AQ-Child) is a parent-report questionnaire that aims to quantify autistic traits in children 4-11 years old. The range of scores on the AQ-Child is 0-150. It was administered to children with an autism spectrum condition (ASC) (n = 540) and a general population sample (n = 1,225). Results showed a…

  15. 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...

  16. The Broad Autism Phenotype Questionnaire: Prevalence and Diagnostic Classification

    OpenAIRE

    Sasson, Noah J.; Lam, Kristen S. L.; Childress, Debra; Parlier, Morgan; Daniels, Julie L.; Piven, Joseph

    2013-01-01

    The Broad Autism Phenotype Questionnaire (BAPQ; Hurley et al, 2007) was administered to a large community-based sample of biological parents of children with autism (PCAs) and comparison parents (CPs) (n = 1692). Exploratory factor analysis and internal consistency parameters confirmed a robust three factor structure of the BAPQ, corresponding to the proposed aloof, pragmatic language and rigidity subscales. Based upon the distribution of BAP features in the general population, new normative ...

  17. 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 ...

  18. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    ... the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), the guidelines health care providers use to diagnose different mental health conditions, was released. The DSM-5 made significant changes to how autism is classified ...

  19. 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.

  20. [Autism and neuropsychology].

    Science.gov (United States)

    Labruyère, Nelly; Sonie, Sandrine

    2014-01-01

    In neuropsychology, the deficiencies associated with autism are generally classed into three areas: social cognition, executive functioning and central coherence. Autistic people however have singular capacities, notably with regard to their perceptual processing focused on details.

  1. Coronavirus Attachment and Replication

    Science.gov (United States)

    1988-03-28

    receptors on intestinal brush border membranes from normal host species were developed for canine (CCV), feline (FIPV), porcine ( TGEV ), human (HCV...229E), and bovine (BCV) coronaviruses. The antigenically related coronaviruses, CCV, FIPV, TGEV , and HCV -229E bound to intestinal brush border...Forest virus SPA staphylococcal protein A STM sample treatment mix TCA trichloroacetic acid TCV turkey corona virus TGEV transmissible

  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. Autism and psychosis: Clinical implications for depression and suicide.

    Science.gov (United States)

    Upthegrove, Rachel; Abu-Akel, Ahmad; Chisholm, Katharine; Lin, Ashleigh; Zahid, Sofia; Pelton, Mirabel; Apperly, Ian; Hansen, Peter C; Wood, Stephen J

    2017-08-18

    There is increasing recognition of the co-occurrence of autism and schizophrenia spectrum disorders. However, the clinical significance of this on outcomes such as depression and suicidal thinking has not been explored. This study examines the association of autism spectrum traits, depressive symptoms and suicidal behaviour in individuals with psychotic experiences. In two cross sectional studies, individuals from a non-help seeking university student sample and patients with first episode psychosis (FEP) service completed standardized measures of autism spectrum traits, psychotic experiences, depressive symptoms and suicidal thinking. In healthy non-help seeking students, increased autism traits and increased subclinical psychotic experiences were significantly associated with depressive symptoms; a significant interaction effect suggests their combined presence has a greater impact on depression. In FEP, high autism traits and positive symptoms were associated with increased depression, hopelessness and suicidality, however there was no significant interaction effect. In FEP a multiple mediation model revealed that the relationship between autism traits and risk for suicidality was mediated through hopelessness. Young people with subclinical psychotic experiences and all patients with FEP should be screened for autism spectrum traits, which may have significant impact on clinical outcomes. Tailored interventions for patients with high levels of autistic spectrum co-morbidities in FEP should be a priority for future research. Copyright © 2017. Published by Elsevier B.V.

  4. 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.

  5. The Pathogenesis of Autism

    Directory of Open Access Journals (Sweden)

    Timothy John Watts

    2008-01-01

    Full Text Available Autism is well known as a complex developmental disorder with a seemingly confusing and uncertain pathogenesis. The definitive mechanisms that promote autism are poorly understood and mostly unknown, yet available theories do appear to focus on the disruption of normal cerebral development and its subsequent implications on the functional brain unit. This mini-review aims solely to discuss and evaluate the most prominent current theories regarding the pathogenesis of autism. The main conclusion is that although there is not a clear pathway of mechanisms directed towards a simple pathogenesis and an established link to autism on the symptomatic level; there are however several important theories (neural connectivity, neural migration, excitatory-inhibitory neural activity, dendritic morphology, neuroimmune; calcium signalling and mirror neurone which appear to offer an explanation to how autism develops. It seems probable that autism's neurodevelopmental defect is ‘multi-domain’ in origin (rather than a single anomaly and is hence distributed across numerous levels of study (genetic, immunopathogenic, etc.. A more definitive understanding of the pathogenesis could facilitate the development of better treatments for this complex psychiatric disorder.

  6. Replication-uncoupled histone deposition during adenovirus DNA replication.

    Science.gov (United States)

    Komatsu, Tetsuro; Nagata, Kyosuke

    2012-06-01

    In infected cells, the chromatin structure of the adenovirus genome DNA plays critical roles in its genome functions. Previously, we reported that in early phases of infection, incoming viral DNA is associated with both viral core protein VII and cellular histones. Here we show that in late phases of infection, newly synthesized viral DNA is also associated with histones. We also found that the knockdown of CAF-1, a histone chaperone that functions in the replication-coupled deposition of histones, does not affect the level of histone H3 bound on viral chromatin, although CAF-1 is accumulated at viral DNA replication foci together with PCNA. Chromatin immunoprecipitation assays using epitope-tagged histone H3 demonstrated that histone variant H3.3, which is deposited onto the cellular genome in a replication-independent manner, is selectively associated with both incoming and newly synthesized viral DNAs. Microscopic analyses indicated that histones but not USF1, a transcription factor that regulates viral late gene expression, are excluded from viral DNA replication foci and that this is achieved by the oligomerization of the DNA binding protein (DBP). Taken together, these results suggest that histone deposition onto newly synthesized viral DNA is most likely uncoupled with viral DNA replication, and a possible role of DBP oligomerization in this replication-uncoupled histone deposition is discussed.

  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. 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 ...

  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. 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…

  11. Chromatin replication and histone dynamics

    DEFF Research Database (Denmark)

    Alabert, Constance; Jasencakova, Zuzana; Groth, Anja

    2017-01-01

    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. 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)

  13. 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...

  14. 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...

  15. 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…

  16. 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.)…

  17. Synchronous replication of remote storage

    OpenAIRE

    Mirzoev, Dr. Timur

    2014-01-01

    Storage replication is one of the essential requirements for network environments. While many forms of Network Attached Storage (NAS), Storage Area Networks (SAN) and other forms of network storage exist, there is a need for a reliable synchronous storage replication technique between distant sites (less than 1 mile). Such technology allows setting new standards for network failover and failback systems for virtual servers; specifically, addressing the growing need for effective disaster reco...

  18. 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.…

  19. 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…

  20. 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…

  1. The Effects of Peer Training on the Social Interactions of Children with Autism Spectrum Disorders

    Science.gov (United States)

    Krebs, Mindy Leigh; McDaniel, D. Mike; Neeley, Richard A.

    2010-01-01

    This study investigated the effects of peer training intervention on social interactions of two participants with autism spectrum disorders (ASD) and four typically developing peers. A multiple probe (Horner & Baer, 1978) across tasks, replicated across participants design, was used to evaluate these effects. Prior to data collection, a task…

  2. 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…

  3. Aggressive Behaviors and Verbal Communication Skills in Autism Spectrum Disorders.

    Science.gov (United States)

    De Giacomo, Andrea; Craig, Francesco; Terenzio, Vanessa; Coppola, Annamaria; Campa, Maria Gloria; Passeri, Gianfranco

    2016-01-01

    Aggressive behavior is a common problem among children with autism spectrum disorder (ASD) and could negatively affect family functioning and school and social competence. The aim of the present study was to investigate the relationship between aggressive behavior, such as self-aggression and other-aggression, with verbal communication ability and IQ level in children with ASD. The sample examined in this study included 88 children with a diagnosis of ASD. For the purposes of our study, much attention was focused on individual items of the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised that were useful to evaluate the aggressive behavior. We have not found any association between aggressive behavior (other-aggression and self-aggression) and the absence of language or low IQ in children with ASD. Thus, the degree of severity of autism is probably the most important risk factor for this behavior.

  4. Systematic determination of replication activity type highlights interconnections between replication, chromatin structure and nuclear localization.

    Science.gov (United States)

    Farkash-Amar, Shlomit; David, Yaara; Polten, Andreas; Hezroni, Hadas; Eldar, Yonina C; Meshorer, Eran; Yakhini, Zohar; Simon, Itamar

    2012-01-01

    DNA replication is a highly regulated process, with each genomic locus replicating at a distinct time of replication (ToR). Advances in ToR measurement technology enabled several genome-wide profiling studies that revealed tight associations between ToR and general genomic features and a remarkable ToR conservation in mammals. Genome wide studies further showed that at the hundreds kb-to-megabase scale the genome can be divided into constant ToR regions (CTRs) in which the replication process propagates at a faster pace due to the activation of multiple origins and temporal transition regions (TTRs) in which the replication process propagates at a slower pace. We developed a computational tool that assigns a ToR to every measured locus and determines its replication activity type (CTR versus TTR). Our algorithm, ARTO (Analysis of Replication Timing and Organization), uses signal processing methods to fit a constant piece-wise linear curve to the measured raw data. We tested our algorithm and provide performance and usability results. A Matlab implementation of ARTO is available at http://bioinfo.cs.technion.ac.il/people/zohar/ARTO/. Applying our algorithm to ToR data measured in multiple mouse and human samples allowed precise genome-wide ToR determination and replication activity type characterization. Analysis of the results highlighted the plasticity of the replication program. For example, we observed significant ToR differences in 10-25% of the genome when comparing different tissue types. Our analyses also provide evidence for activity type differences in up to 30% of the probes. Integration of the ToR data with multiple aspects of chromosome organization characteristics suggests that ToR plays a role in shaping the regional chromatin structure. Namely, repressive chromatin marks, are associated with late ToR both in TTRs and CTRs. Finally, characterization of the differences between TTRs and CTRs, with matching ToR, revealed that TTRs are associated with

  5. Systematic determination of replication activity type highlights interconnections between replication, chromatin structure and nuclear localization.

    Directory of Open Access Journals (Sweden)

    Shlomit Farkash-Amar

    Full Text Available DNA replication is a highly regulated process, with each genomic locus replicating at a distinct time of replication (ToR. Advances in ToR measurement technology enabled several genome-wide profiling studies that revealed tight associations between ToR and general genomic features and a remarkable ToR conservation in mammals. Genome wide studies further showed that at the hundreds kb-to-megabase scale the genome can be divided into constant ToR regions (CTRs in which the replication process propagates at a faster pace due to the activation of multiple origins and temporal transition regions (TTRs in which the replication process propagates at a slower pace. We developed a computational tool that assigns a ToR to every measured locus and determines its replication activity type (CTR versus TTR. Our algorithm, ARTO (Analysis of Replication Timing and Organization, uses signal processing methods to fit a constant piece-wise linear curve to the measured raw data. We tested our algorithm and provide performance and usability results. A Matlab implementation of ARTO is available at http://bioinfo.cs.technion.ac.il/people/zohar/ARTO/. Applying our algorithm to ToR data measured in multiple mouse and human samples allowed precise genome-wide ToR determination and replication activity type characterization. Analysis of the results highlighted the plasticity of the replication program. For example, we observed significant ToR differences in 10-25% of the genome when comparing different tissue types. Our analyses also provide evidence for activity type differences in up to 30% of the probes. Integration of the ToR data with multiple aspects of chromosome organization characteristics suggests that ToR plays a role in shaping the regional chromatin structure. Namely, repressive chromatin marks, are associated with late ToR both in TTRs and CTRs. Finally, characterization of the differences between TTRs and CTRs, with matching ToR, revealed that TTRs are

  6. Specificity of dyspraxia in children with autism.

    Science.gov (United States)

    MacNeil, Lindsey K; Mostofsky, Stewart H

    2012-03-01

    To explore the specificity of impaired praxis and postural knowledge to autism by examining three samples of children, including those with autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and typically developing (TD) children. Twenty-four children with ASD, 24 children with ADHD, and 24 TD children, ages 8-13, completed measures assessing basic motor control (the Physical and Neurological Exam for Subtle Signs; PANESS), praxis (performance of skilled gestures to command, with imitation, and tool use) and the ability to recognize correct hand postures necessary to perform skilled gestures (the Postural Knowledge Test; PKT). Children with ASD performed significantly worse than TD children on all three assessments. In contrast, children with ADHD performed significantly worse than TD controls on PANESS but not on the praxis examination or PKT. Furthermore, children with ASD performed significantly worse than children with ADHD on both the praxis examination and PKT, but not on the PANESS. Whereas both children with ADHD and children with ASD show impairments in basic motor control, impairments in performance and recognition of skilled motor gestures, consistent with dyspraxia, appear to be specific to autism. The findings suggest that impaired formation of perceptual-motor action models necessary to development of skilled gestures and other goal directed behavior is specific to autism; whereas, impaired basic motor control may be a more generalized finding.

  7. Effects of stimuli organization on identity matching-to-sample performances of persons with autism / Desempenho de pessoas com autismo em tarefas de emparelhamento com o modelo por identidade: efeitos da organização dos estímulos

    Directory of Open Access Journals (Sweden)

    Camila Graciella Santos Gomes

    2008-01-01

    Full Text Available This study assessed the performance of 20 persons with autism in an identity matching-to-sample task, using two procedures with different stimuli arrangements and different response requirements. The typical matching procedure presented one sample stimulus and three comparison stimuli; the adapted matching displayed three sample stimuli and three comparison stimuli simultaneously. Three consecutive sets of trials were conducted: a 10-trial set of adapted matching, a 10-trial set of typical matching, and a 20-trial set intermixing both trial types in an unsystematic order. The average score of correct performance was significantly higher under the adapted matching than under the typical matching, but the inter-individual variability was large and the adapted arrangement favored mainly the performance of participants with lower scores. The participants' previous history in learning may have played a role in the way they solved the present task, but further investigation, with experimental controls additional will be necessary to evaluate this possibility.

  8. The genetics of autism.

    Science.gov (United States)

    Muhle, Rebecca; Trentacoste, Stephanie V; Rapin, Isabelle

    2004-05-01

    Autism is a complex, behaviorally defined, static disorder of the immature brain that is of great concern to the practicing pediatrician because of an astonishing 556% reported increase in pediatric prevalence between 1991 and 1997, to a prevalence higher than that of spina bifida, cancer, or Down syndrome. This jump is probably attributable to heightened awareness and changing diagnostic criteria rather than to new environmental influences. Autism is not a disease but a syndrome with multiple nongenetic and genetic causes. By autism (the autistic spectrum disorders [ASDs]), we mean the wide spectrum of developmental disorders characterized by impairments in 3 behavioral domains: 1) social interaction; 2) language, communication, and imaginative play; and 3) range of interests and activities. Autism corresponds in this article to pervasive developmental disorder (PDD) of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition and International Classification of Diseases, Tenth Revision. Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause. Review of 2 major textbooks on autism and of papers published between 1961 and 2003 yields convincing evidence for multiple interacting genetic factors as the main causative determinants of autism. Epidemiologic studies indicate that environmental factors such as toxic exposures, teratogens, perinatal insults, and prenatal infections such as rubella and cytomegalovirus account for few cases. These studies fail to confirm that immunizations with the measles-mumps-rubella vaccine are responsible for the surge in autism. Epilepsy, the medical condition most highly associated with autism, has equally complex genetic/nongenetic (but mostly unknown

  9. The McGurk effect in children with autism and Asperger syndrome.

    Science.gov (United States)

    Bebko, James M; Schroeder, Jessica H; Weiss, Jonathan A

    2014-02-01

    Children with autism may have difficulties in audiovisual speech perception, which has been linked to speech perception and language development. However, little has been done to examine children with Asperger syndrome as a group on tasks assessing audiovisual speech perception, despite this group's often greater language skills. Samples of children with autism, Asperger syndrome, and Down syndrome, as well as a typically developing sample, were presented with an auditory-only condition, a speech-reading condition, and an audiovisual condition designed to elicit the McGurk effect. Children with autism demonstrated unimodal performance at the same level as the other groups, yet showed a lower rate of the McGurk effect compared with the Asperger, Down and typical samples. These results suggest that children with autism may have unique intermodal speech perception difficulties linked to their representations of speech sounds. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

  10. 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.

  11. Predicting Language Outcome in Infants with Autism and Pervasive Developmental Disorder

    Science.gov (United States)

    Charman, Tony; Baron-Cohen, Simon; Swettenham, John; Baird, Gillian; Drew, Auriol; Cox, Antony

    2003-01-01

    Background: To examine longitudinal associations between diagnosis, joint attention, play and imitation abilities and language outcome in infants with autism and pervasive developmental disorder. Methods and Procedures: Experimental measures of joint attention, play and imitation were conducted with a sample of infants with autism spectrum…

  12. Discriminative and Criterion Validity of the Autism Spectrum Identity Scale (ASIS)

    Science.gov (United States)

    McDonald, T. A. M.

    2017-01-01

    Individuals on the autism spectrum face stigma that can influence identity development. Previous research on the 22-item Autism Spectrum Identity Scale (ASIS) reported a four-factor structure with strong split-sample cross-validation and good internal consistency. This study reports the discriminative and criterion validity of the ASIS with other…

  13. The Developmental, Dimensional and Diagnostic Interview (3Di): A Novel Computerized Assessment for Autism Spectrum Disorders

    Science.gov (United States)

    Skuse, David; Warrington, Richard; Bishop, Dorothy; Chowdhury, Uttom; Lau, Jennifer; Mandy, William; Place, Maurice

    2004-01-01

    Objective: Autism is a diagnostic spectrum of variable severity, with significant comorbidity. No existing standardized interview measures autistic features dimensionally. The authors aimed to develop a parental autism interview that could be administered to unselected clinical and general population samples that measures both symptom intensity…

  14. Detail and Gestalt Focus in Individuals with Optimal Outcomes from Autism Spectrum Disorders

    Science.gov (United States)

    Fitch, Allison; Fein, Deborah A.; Eigsti, Inge-Marie

    2015-01-01

    Individuals with high-functioning autism (HFA) have a cognitive style that privileges local over global or gestalt details. While not a core symptom of autism, individuals with HFA seem to reliably show this bias. Our lab has been studying a sample of children who have overcome their early ASD diagnoses, showing "optimal outcomes" (OO).…

  15. The Real-World Effectiveness of Early Teaching Interventions for Children with Autism Spectrum Disorder

    Science.gov (United States)

    Reed, Phil; Osborne, Lisa A.; Corness, Mark

    2007-01-01

    The effectiveness of 3 early teaching interventions (applied behavior analysis [ABA], special nursery placement, and portage) for children with autism spectrum disorder was studied in a community-based sample over 10 months. Measures of autism severity as well as intellectual, educational, and adaptive behavioral function were administered. In…

  16. 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 =…

  17. 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...

  18. 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,…

  19. 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…

  20. 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…

  1. 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…

  2. 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...

  3. 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.

  4. STX1A and Asperger syndrome: a replication study.

    Science.gov (United States)

    Durdiaková, Jaroslava; Warrier, Varun; Banerjee-Basu, Sharmila; Baron-Cohen, Simon; Chakrabarti, Bhismadev

    2014-02-18

    Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation of serotonergic and GABAergic systems and its expression is altered in autism. In this study, the association between three single nucleotide polymorphisms (SNPs) (rs4717806, rs941298 and rs6951030) in STX1A gene and Asperger syndrome (AS) were tested in 650 controls and 479 individuals with AS, all of Caucasian ancestry. rs4717806 (P = 0.00334) and rs941298 (P = 0.01741) showed a significant association with AS, replicating previous results. Both SNPs putatively alter transcription factor binding sites both directly and through other variants in high linkage disequilibrium. The current study confirms the role of STX1A as an important candidate gene in ASC. The exact molecular mechanisms through which STX1A contributes to the etiology remain to be elucidated.

  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. 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.)

  7. 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.

  8. ETIOLOGY OF AUTISM

    Directory of Open Access Journals (Sweden)

    Vladimir TRAJKOVSKI

    2004-06-01

    Full Text Available Although there is good evidence that autism is a multifactorial disorder, an adequate understanding of the genetic and nongenetic causes has yet to be achieved. With empirical research findings review is made to evidence on possible causal influences. Much the strongest evidence concerns the importance of susceptibility genes, but such genes have yet to be identified. Specific somatic conditions (tuberous sclerosis and the fragile X syndrome account for a small proportion of cases. Over recent decades there has been a major rise in the rate of diagnosed autism. The main explanation for this rise is to be found in better ascertainment and a broadening of the diagnostic concept. Progress on the elucidation of the causes of autism will be crucially dependent on the combination of epidemiology with more basic science laboratory studies.

  9. The neuropsychology of autism.

    Science.gov (United States)

    Happé, F; Frith, U

    1996-08-01

    In this review, we aim to bring together major trends in autism research at three levels: biology, behaviour and cognition. We propose that cognitive theories are vital in neuropsychology, which seeks to make connections between brain abnormality and behavioural symptoms. Research at each of the three levels is incomplete, but important advances have been made. At the biological level, there is strong evidence for genetic factors, although the mechanism is, as yet, unknown. At the behavioural level, diagnosis and education are becoming more coherent and less controversial, although the possibility of autism subtypes has provoked new debate. At the cognitive level, three major theories are proving fruitful (mentalizing impairment, executive dysfunction and weak central coherence), although the relation and overlap between these is uncertain. Rapidly advancing technology and methodology (e.g. brain imaging, gene mapping), as tools of cognitive theory, may help to make autism one of the first developmental disorders to be understood at the neuropsychological level.

  10. 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...

  11. Defects of mitochondrial DNA replication.

    Science.gov (United States)

    Copeland, William C

    2014-09-01

    Mitochondrial DNA is replicated by DNA polymerase γ in concert with accessory proteins such as the mitochondrial DNA helicase, single-stranded DNA binding protein, topoisomerase, and initiating factors. Defects in mitochondrial DNA replication or nucleotide metabolism can cause mitochondrial genetic diseases due to mitochondrial DNA deletions, point mutations, or depletion, which ultimately cause loss of oxidative phosphorylation. These genetic diseases include mitochondrial DNA depletion syndromes such as Alpers or early infantile hepatocerebral syndromes, and mitochondrial DNA deletion disorders, such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. This review focuses on our current knowledge of genetic defects of mitochondrial DNA replication (POLG, POLG2, C10orf2, and MGME1) that cause instability of mitochondrial DNA and mitochondrial disease. © The Author(s) 2014.

  12. 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...

  13. Autism and Clostridium tetani.

    Science.gov (United States)

    Bolte, E R

    1998-08-01

    Autism is a severe developmental disability believed to have multiple etiologies. This paper outlines the possibility of a subacute, chronic tetanus infection of the intestinal tract as the underlying cause for symptoms of autism observed in some individuals. A significant percentage of individuals with autism have a history of extensive antibiotic use. Oral antibiotics significantly disrupt protective intestinal microbiota, creating a favorable environment for colonization by opportunistic pathogens. Clostridium tetani is an ubiquitous anaerobic bacillus that produces a potent neurotoxin. Intestinal colonization by C. tetani, and subsequent neurotoxin release, have been demonstrated in laboratory animals which were fed vegetative cells. The vagus nerve is capable of transporting tetanus neurotoxin (TeNT) and provides a route of ascent from the intestinal tract to the CNS. This route bypasses TeNT's normal preferential binding sites in the spinal cord, and therefore the symptoms of a typical tetanus infection are not evident. Once in the brain, TeNT disrupts the release of neurotransmitters by the proteolytic cleavage of synaptobrevin, a synaptic vesicle membrane protein. This inhibition of neurotransmitter release would explain a wide variety of behavioral deficits apparent in autism. Lab animals injected in the brain with TeNT have exhibited many of these behaviors. Some children with autism have also shown a significant reduction in stereotyped behaviors when treated with antimicrobials effective against intestinal clostridia. When viewed as sequelae to a subacute, chronic tetanus infection, many of the puzzling abnormalities of autism have a logical basis. A review of atypical tetanus cases, and strategies to test the validity of this paper's hypothesis, are included.

  14. 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 ... known single gene cause of ASD What Is Autism Spectrum Disorder? Autism spectrum disorder (ASD) is a behavioral diagnosis. ...

  15. 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. ...

  16. 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.

  17. 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…

  18. International Expansion through Flexible Replication

    DEFF Research Database (Denmark)

    Jonsson, Anna; Foss, Nicolai Juul

    2011-01-01

    to local environments and under the impact of new learning. To illuminate these issues, we draw on a longitudinal in-depth study of Swedish home furnishing giant IKEA, involving more than 70 interviews. We find that IKEA has developed organizational mechanisms that support an ongoing learning process aimed...... at frequent modification of the format for replication. Another finding is that IKEA treats replication as hierarchical: lower-level features (marketing efforts, pricing, etc.) are allowed to vary across IKEA stores in response to market-based learning, while higher-level features (fundamental values, vision...

  19. 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

    2017-07-01

    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 prevalence of IA among adolescents with ASD alone, with ADHD alone and with comorbid ASD and ADHD were 10.8, 12.5, and 20.0%, respectively. Our results emphasize the clinical importance of screening and intervention for IA when mental health professionals see adolescents with ASD and/or ADHD in psychiatric services.

  20. 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.

  1. 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…

  2. 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

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

    DEFF Research Database (Denmark)

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

    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...

  4. 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…

  5. 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, ...

  6. 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.

  7. 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…

  8. 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.

  9. Diagnosis of Autism

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-10-01

    Full Text Available The identification and assessment process for children with autism and autistic spectrum disorder is reviewed by a developmental pediatrician, speech and language therapist, and consultant in pediatric disability at Guy’s and St Thomas’ Hospitals, and Great Ormond Street Children’s Hospital, London, UK.

  10. Autism, oxytocin and interoception.

    Science.gov (United States)

    Quattrocki, E; Friston, Karl

    2014-11-01

    Autism is a pervasive developmental disorder characterized by profound social and verbal communication deficits, stereotypical motor behaviors, restricted interests, and cognitive abnormalities. Autism affects approximately 1% of children in developing countries. Given this prevalence, identifying risk factors and therapeutic interventions are pressing objectives—objectives that rest on neurobiologically grounded and psychologically informed theories about the underlying pathophysiology. In this article, we review the evidence that autism could result from a dysfunctional oxytocin system early in life. As a mediator of successful procreation, not only in the reproductive system, but also in the brain, oxytocin plays a crucial role in sculpting socio-sexual behavior. Formulated within a (Bayesian) predictive coding framework, we propose that oxytocin encodes the saliency or precision of interoceptive signals and enables the neuronal plasticity necessary for acquiring a generative model of the emotional and social 'self.' An aberrant oxytocin system in infancy could therefore help explain the marked deficits in language and social communication—as well as the sensory, autonomic, motor, behavioral, and cognitive abnormalities—seen in autism. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  11. 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.

  12. Chromosomal abnormalities and autism

    African Journals Online (AJOL)

    Farida El-Baz

    2015-06-19

    Jun 19, 2015 ... ORIGINAL ARTICLE. Chromosomal abnormalities and autism. Farida El-Baz a. , Mohamed Saad Zaghloul a. , Ezzat El Sobky a. ,. Reham M Elhossiny a,. *, Heba Salah a. , Neveen Ezy Abdelaziz b a Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt b Children with Special ...

  13. 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…

  14. 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.

  15. 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.

  16. Autism and art.

    Science.gov (United States)

    James, Ioan

    2010-01-01

    The link between mild forms of autism and artistic creativity is suggested by a number of individual cases. Here those of a well-known composer, Béla Bártok, and a famous visual artist, Andy Warhol, are considered. Copyright (c) 2010 S. Karger AG, Basel.

  17. 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.

  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. 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....

  2. 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.

  3. Social attention and autism symptoms in high functioning women with autism spectrum disorders.

    Science.gov (United States)

    Ketelaars, Mieke P; In't Velt, Anne; Mol, Audrey; Swaab, Hanna; Bodrij, Fenne; van Rijn, Sophie

    2017-05-01

    Research has suggested a different, less visible, clinical manifestation of Autism Spectrum Disorders (ASD) in females. There is, however, limited research into possible underlying mechanisms explaining the female phenotype. This study investigates social attention in females with ASD. 26 women diagnosed with ASD and 26 typical female controls were shown three video clips containing intense emotions. Social attention was assessed by measuring eye fixation patterns during the video clips. Autism symptoms were assessed using the informant reported Social Responsiveness Scale (SRS). Results show normal time to first fixation to the face, but lower fixation duration to the face in women with ASD. Analyzing the visual patterns further, there were similar impairments in fixation to mouth, eyes and other facial areas. Relating social attention to autism symptoms revealed several significant correlations within the ASD group. Women with ASD show abnormalities in social attention and these abnormalities are related to level of autism symptoms. In contrast to other studies which investigate male dominated ASD samples, a hyperfocus to the mouth area could not be found. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. [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.

  5. 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…

  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. 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...

  8. Replication Clamps and Clamp Loaders

    Science.gov (United States)

    Hedglin, Mark; Kumar, Ravindra; Benkovic, Stephen J.

    2013-01-01

    To achieve the high degree of processivity required for DNA replication, DNA polymerases associate with ring-shaped sliding clamps that encircle the template DNA and slide freely along it. The closed circular structure of sliding clamps necessitates an enzyme-catalyzed mechanism, which not only opens them for assembly and closes them around DNA, but specifically targets them to sites where DNA synthesis is initiated and orients them correctly for replication. Such a feat is performed by multisubunit complexes known as clamp loaders, which use ATP to open sliding clamp rings and place them around the 3′ end of primer–template (PT) junctions. Here we discuss the structure and composition of sliding clamps and clamp loaders from the three domains of life as well as T4 bacteriophage, and provide our current understanding of the clamp-loading process. PMID:23545418

  9. 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

  10. 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...... that govern replicative stress, thus providing ample opportunities to enhance replicative stress for therapeutic purposes. Rather than trying to halt cell cycle progression, cancer therapeutics could aim to increase replicative stress by further loosening the checkpoints that remain available to cancer cells...

  11. 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,

  12. The structure of intelligence in children and adults with high functioning autism.

    Science.gov (United States)

    Goldstein, Gerald; Allen, Daniel N; Minshew, Nancy J; Williams, Diane L; Volkmar, Fred; Klin, Ami; Schultz, Robert T

    2008-05-01

    Confirmatory factor analyses of the commonly used 11 subtests of the Wechsler child and adult intelligence scales were accomplished for 137 children and 117 adults with high functioning autism (HFA) and for comparable age groups from the standardization samples contained in the Wechsler manuals. The objectives were to determine whether the structure of intelligence in HFA groups was similar to that found in the normative samples, and whether a separate "social context" factor would emerge that was unique to HFA. Four-factor models incorporating a Social Context factor provided the best fit in both the autism and normative samples, but the subtest intercorrelations were generally lower in the autism samples. Findings suggest similar organization of cognitive abilities in HFA, but with the possibility of underconnectivity or reduced communication among brain regions in autism.

  13. Autism cornered: network analyses reveal mechanisms of autism spectrum disorders

    OpenAIRE

    Auffray, Charles

    2014-01-01

    Despite a wealth of behavioral, cognitive, biological, and genetic studies, the causes of autism have remained largely unknown. In their recent work, Snyder and colleagues (Li et?al, 2014) use a systems biology approach and shed light on the molecular and cellular mechanisms underlying autism, thus opening novel avenues for understanding the disease and developing potential treatments.

  14. 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…

  15. 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…

  16. 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…

  17. Controlled Evaluation of the Effects of Hyperbaric Oxygen Therapy on the Behavior of 16 Children with Autism Spectrum Disorders

    Science.gov (United States)

    Jepson, Bryan; Granpeesheh, Doreen; Tarbox, Jonathan; Olive, Melissa L.; Stott, Carol; Braud, Scott; Yoo, J. Helen; Wakefield, Andrew; Allen, Michael S.

    2011-01-01

    Hyperbaric oxygen therapy (HBOT) has been used to treat individuals with autism. However, few studies of its effectiveness have been completed. The current study examined the effects of 40 HBOT sessions at 24% oxygen at 1.3 ATA on 11 topographies of directly observed behavior. Five replications of multiple baselines were completed across a total…

  18. 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,…

  19. Recombination-dependent concatemeric viral DNA replication.

    Science.gov (United States)

    Lo Piano, Ambra; Martínez-Jiménez, María I; Zecchi, Lisa; Ayora, Silvia

    2011-09-01

    The initiation of viral double stranded (ds) DNA replication involves proteins that recruit and load the replisome at the replication origin (ori). Any block in replication fork progression or a programmed barrier may act as a factor for ori-independent remodelling and assembly of a new replisome at the stalled fork. Then replication initiation becomes dependent on recombination proteins, a process called recombination-dependent replication (RDR). RDR, which is recognized as being important for replication restart and stability in all living organisms, plays an essential role in the replication cycle of many dsDNA viruses. The SPP1 virus, which infects Bacillus subtilis cells, serves as a paradigm to understand the links between replication and recombination in circular dsDNA viruses. SPP1-encoded initiator and replisome assembly proteins control the onset of viral replication and direct the recruitment of host-encoded replisomal components at viral oriL. SPP1 uses replication fork reactivation to switch from ori-dependent θ-type (circle-to-circle) replication to σ-type RDR. Replication fork arrest leads to a double strand break that is processed by viral-encoded factors to generate a D-loop into which a new replisome is assembled, leading to σ-type viral replication. SPP1 RDR proteins are compared with similar proteins encoded by other viruses and their possible in vivo roles are discussed. Copyright © 2011 Elsevier B.V. All rights reserved.

  20. 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.

  1. Mercury, Vaccines, and Autism

    Science.gov (United States)

    Baker, Jeffrey P.

    2008-01-01

    The controversy regarding the once widely used mercury-containing preservative thimerosal in childhood vaccines has raised many historical questions that have not been adequately explored. Why was this preservative incorporated in the first place? Was there any real evidence that it caused harm? And how did thimerosal become linked in the public mind to the “autism epidemic”? I examine the origins of the thimerosal controversy and their legacy for the debate that has followed. More specifically, I explore the parallel histories of three factors that converged to create the crisis: vaccine preservatives, mercury poisoning, and autism. An understanding of this history provides important lessons for physicians and policymakers seeking to preserve the public’s trust in the nation’s vaccine system. PMID:18172138

  2. Autisme-spektrum forstyrrelser

    DEFF Research Database (Denmark)

    Laursen, Kathrine Bang

    2014-01-01

    praksis kombineret med stigende krav til sociale færdigheder og fleksibilitet. Autisme kan findes i forskellige grader og er fire gange hyppigere hos drenge end hos piger. Udenlandske studier har vist en højere forekomst af ASF hos familier med høj socioøkonomisk status, men det er uvist, om denne...... sammenhæng blot er udtryk for en ulige adgang til sundhedssystemet. I Danmark er der ikke tegn på større social skævhed i relation til denne diagnose. Der findes ingen medicinsk behandling for autisme, men en tidlig erkendelse af problemerne og efterfølgende støtte kan formodentlig forbedre livsforløbet....

  3. 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

  4. 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.

  5. Salience network-based classification and prediction of symptom severity in children with autism.

    Science.gov (United States)

    Uddin, Lucina Q; Supekar, Kaustubh; Lynch, Charles J; Khouzam, Amirah; Phillips, Jennifer; Feinstein, Carl; Ryali, Srikanth; Menon, Vinod

    2013-08-01

    Autism spectrum disorder (ASD) affects 1 in 88 children and is characterized by a complex phenotype, including social, communicative, and sensorimotor deficits. Autism spectrum disorder has been linked with atypical connectivity across multiple brain systems, yet the nature of these differences in young children with the disorder is not well understood. To examine connectivity of large-scale brain networks and determine whether specific networks can distinguish children with ASD from typically developing (TD) children and predict symptom severity in children with ASD. Case-control study performed at Stanford University School of Medicine of 20 children 7 to 12 years old with ASD and 20 age-, sex-, and IQ-matched TD children. Between-group differences in intrinsic functional connectivity of large-scale brain networks, performance of a classifier built to discriminate children with ASD from TD children based on specific brain networks, and correlations between brain networks and core symptoms of ASD. We observed stronger functional connectivity within several large-scale brain networks in children with ASD compared with TD children. This hyperconnectivity in ASD encompassed salience, default mode, frontotemporal, motor, and visual networks. This hyperconnectivity result was replicated in an independent cohort obtained from publicly available databases. Using maps of each individual's salience network, children with ASD could be discriminated from TD children with a classification accuracy of 78%, with 75% sensitivity and 80% specificity. The salience network showed the highest classification accuracy among all networks examined, and the blood oxygen-level dependent signal in this network predicted restricted and repetitive behavior scores. The classifier discriminated ASD from TD in the independent sample with 83% accuracy, 67% sensitivity, and 100% specificity. Salience network hyperconnectivity may be a distinguishing feature in children with ASD. Quantification of

  6. Salience Network–Based Classification and Prediction of Symptom Severity in Children With Autism

    Science.gov (United States)

    Uddin, Lucina Q.; Supekar, Kaustubh; Lynch, Charles J.; Khouzam, Amirah; Phillips, Jennifer; Feinstein, Carl; Ryali, Srikanth; Menon, Vinod

    2014-01-01

    IMPORTANCE Autism spectrum disorder (ASD) affects 1 in 88 children and is characterized by a complex phenotype, including social, communicative, and sensorimotor deficits. Autism spectrum disorder has been linked with atypical connectivity across multiple brain systems, yet the nature of these differences in young children with the disorder is not well understood. OBJECTIVES To examine connectivity of large-scale brain networks and determine whether specific networks can distinguish children with ASD from typically developing (TD) children and predict symptom severity in children with ASD. DESIGN, SETTING, AND PARTICIPANTS Case-control study performed at Stanford University School of Medicine of 20 children 7 to 12 years old with ASD and 20 age-, sex-, and IQ-matched TD children. MAIN OUTCOMES AND MEASURES Between-group differences in intrinsic functional connectivity of large-scale brain networks, performance of a classifier built to discriminate children with ASD from TD children based on specific brain networks, and correlations between brain networks and core symptoms of ASD. RESULTS We observed stronger functional connectivity within several large-scale brain networks in children with ASD compared with TD children. This hyperconnectivity in ASD encompassed salience, default mode, frontotemporal, motor, and visual networks. This hyperconnectivity result was replicated in an independent cohort obtained from publicly available databases. Using maps of each individual’s salience network, children with ASD could be discriminated from TD children with a classification accuracy of 78%, with 75% sensitivity and 80% specificity. The salience network showed the highest classification accuracy among all networks examined, and the blood oxygen–level dependent signal in this network predicted restricted and repetitive behavior scores. The classifier discriminated ASD from TD in the independent sample with 83% accuracy, 67% sensitivity, and 100% specificity. CONCLUSIONS

  7. Serotonin 2A receptor gene (HTR2A) regulatory variants: possible association with severity of depression symptoms in children with autism spectrum disorder.

    Science.gov (United States)

    Gadow, Kenneth D; Smith, Ryan M; Pinsonneault, Julia K

    2014-06-01

    Our aim was to characterize the association of 2 functional single nucleotide polymorphisms (rs6311 and rs6314) in the serotonin 2A receptor gene (HTR2A) with severity of depression symptoms in children with autism spectrum disorder. These polymorphisms have been shown to be associated with depression symptom severity and response to selective serotonin reuptake inhibitor drugs in adults with diagnosed depressive disorder. Parents of 104 children with autism spectrum disorder rated their children's depressive symptoms using a validated scale based on criteria from the Diagnostic and Statistical Manual of Mental Disorders, 4th edition. We compared severity of depression symptoms across the rs6311 and rs6314 genotypes, measured from the children's genomic DNA. Children homozygous for the G allele of rs6311 had significantly more severe depression symptoms than those with G/A or A/A genotypes (P=0.025). The effect size (partial eta-squared) was small (ηp=0.047) but was somewhat larger when we controlled for severity of generalized anxiety disorder symptoms (P=0.006, ηp=0.072). When we restricted our analyses to white participants, our results were essentially the same as for the entire sample (P=0.004, ηp=0.086). There was no significant association between rs6314 (C/C versus T carriers) and severity of depression. Our findings suggest that the HTR2A functional rs6311 polymorphism, which other studies have associated with differential HTR2A mRNA expression, may modulate the severity of depression symptoms in children with autism spectrum disorder. These tentative, hypothesis-generating findings need replication with larger, independent samples.

  8. 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...

  9. 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....

  10. Evaluating replicability of laboratory experiments in economics.

    Science.gov (United States)

    Camerer, Colin F; Dreber, Anna; Forsell, Eskil; Ho, Teck-Hua; Huber, Jürgen; Johannesson, Magnus; Kirchler, Michael; Almenberg, Johan; Altmejd, Adam; Chan, Taizan; Heikensten, Emma; Holzmeister, Felix; Imai, Taisuke; Isaksson, Siri; Nave, Gideon; Pfeiffer, Thomas; Razen, Michael; Wu, Hang

    2016-03-25

    The replicability of some scientific findings has recently been called into question. To contribute data about replicability in economics, we replicated 18 studies published in the American Economic Review and the Quarterly Journal of Economics between 2011 and 2014. All of these replications followed predefined analysis plans that were made publicly available beforehand, and they all have a statistical power of at least 90% to detect the original effect size at the 5% significance level. We found a significant effect in the same direction as in the original study for 11 replications (61%); on average, the replicated effect size is 66% of the original. The replicability rate varies between 67% and 78% for four additional replicability indicators, including a prediction market measure of peer beliefs. Copyright © 2016, American Association for the Advancement of Science.

  11. Multiaxial yield behaviour of Al replicated foam

    Science.gov (United States)

    Combaz, E.; Bacciarini, C.; Charvet, R.; Dufour, W.; Mortensen, A.

    2011-09-01

    Multiaxial experiments are performed on replicated aluminium foam using a custom-built apparatus. The foam structure is isotropic, and features open monomodal pores 75 μm in average diameter. Plane stress ( σ1, σ2, σ3=0) and axisymmetric ( σ1, σ2=σ3) yield envelopes are measured using cubical specimens, supplemented by tests on hollow cylindrical and uniaxial samples. In addition to the three stress components at 0.2% offset strain, the computer-controlled testing apparatus also measures the three instantaneous displacement vectors. Results show that the shape of the yield surface is independent of the relative density of the foam in the explored range (13-28%). Strain increment vectors lie, within error, roughly normal to the line traced through data points in stress space. Replicated foams feature asymmetric yield behaviour between tension and compression. The data additionally show an influence on the yield surface of the third stress tensor invariant (i.e., of the Lode angle). Simple general expressions for the yield surface are fitted to the data, leading to conclude that their behaviour is slightly better captured by parabolic rather than elliptic expressions dependent on all three stress invariants.

  12. 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…

  13. [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

  14. 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)

  15. 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)

  16. 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.

  17. Corporeal reflexivity and autism.

    Science.gov (United States)

    Ochs, Elinor

    2015-06-01

    Ethnographic video recordings of high functioning children with autism or Aspergers Syndrome in everyday social encounters evidence their first person perspectives. High quality visual and audio data allow detailed analysis of children's bodies and talk as loci of reflexivity. Corporeal reflexivity involves displays of awareness of one's body as an experiencing subject and a physical object accessible to the gaze of others. Gaze, demeanor, actions, and sotto voce commentaries on unfolding situations indicate a range of moment-by-moment reflexive responses to social situations. Autism is associated with neurologically based motor problems (e.g. delayed action-goal coordination, clumsiness) and highly repetitive movements to self-soothe. These behaviors can provoke derision among classmates at school. Focusing on a 9-year-old girl's encounters with peers on the playground, this study documents precisely how autistic children can become enmeshed as unwitting objects of stigma and how they reflect upon their social rejection as it transpires. Children with autism spectrum disorders in laboratory settings manifest diminished understandings of social emotions such as embarrassment, as part of a more general impairment in social perspective-taking. Video ethnography, however, takes us further, into discovering autistic children's subjective sense of vulnerability to the gaze of classmates.

  18. 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.”

  19. 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."

  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. 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.

  2. 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.

  3. 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.

  4. Equivalent neural responses in children and adolescents with and without autism during judgments of affect.

    Science.gov (United States)

    Vander Wyk, Brent C; Hoffman, Ferdinand; Pelphrey, Kevin A

    2014-04-01

    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. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

  5. 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.

    2005-01-01

    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),…

  6. 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…

  7. 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…

  8. 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…

  9. 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.

  10. 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.

  11. Precision in systematic trawl surveys as assessed from replicate ...

    African Journals Online (AJOL)

    Precision in systematic trawl surveys as assessed from replicate sampling by parallel trawling off Namibia. ... The main statistical techniques applied were less susceptible to outlier catches than straightforward correlations or regressions and could therefore, perhaps with some advantage, also be used to estimate the vessel ...

  12. Temperament and Sensory Features of Children with Autism

    Science.gov (United States)

    Brock, M. E.; Freuler, A.; Baranek, G. T.; Watson, L. R.; Poe, M. D.; Sabatino, A.

    2012-01-01

    This study sought to characterize temperament traits in a sample of children with autism spectrum disorder (ASD), ages 3-7 years old, and to determine the potential association between temperament and sensory features in ASD. Individual differences in sensory processing may form the basis for aspects of temperament and personality, and aberrations…

  13. 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...

  14. 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...

  15. 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…

  16. Phenomenology and Measurement of Circumscribed Interests in Autism Spectrum Disorders

    Science.gov (United States)

    Turner-Brown, Lauren M.; Lam, Kristen S. L.; Holtzclaw, Tia N.; Dichter, Gabriel S.; Bodfish, James W.

    2011-01-01

    Circumscribed interests (CI) are important and understudied symptoms that affect individuals with autism spectrum disorders (ASD). The present study sought to develop quantitative measures of the content, intensity and functional impairment of CI in 50 children with high-functioning ASD compared to an age-, IQ-, and gender-matched sample of 50…

  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. 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…

  19. 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…

  20. 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…

  1. 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…

  2. Palm Reversal Errors in Native-Signing Children with Autism

    Science.gov (United States)

    Shield, Aaron; Meier, Richard P.

    2012-01-01

    Children with autism spectrum disorder (ASD) who have native exposure to a sign language such as American Sign Language (ASL) have received almost no scientific attention. This paper reports the first studies on a sample of five native-signing children (four deaf children of deaf parents and one hearing child of deaf parents; ages 4;6 to 7;5)…

  3. Corpus Callosum Area in Children and Adults with Autism

    Science.gov (United States)

    Prigge, Molly B. D.; Lange, Nicholas; Bigler, Erin D.; Merkley, Tricia L.; Neeley, E. Shannon; Abildskov, Tracy J.; Froehlich, Alyson L.; Nielsen, Jared A.; Cooperrider, Jason R.; Cariello, Annahir N.; Ravichandran, Caitlin; Alexander, Andrew L.; Lainhart, Janet E.

    2013-01-01

    Despite repeated findings of abnormal corpus callosum structure in autism, the developmental trajectories of corpus callosum growth in the disorder have not yet been reported. In this study, we examined corpus callosum size from a developmental perspective across a 30-year age range in a large cross-sectional sample of individuals with autism…

  4. A computational perspective on autism.

    Science.gov (United States)

    Rosenberg, Ari; Patterson, Jaclyn Sky; Angelaki, Dora E

    2015-07-28

    Autism is a neurodevelopmental disorder that manifests as a heterogeneous set of social, cognitive, motor, and perceptual symptoms. This system-wide pervasiveness suggests that, rather than narrowly impacting individual systems such as affection or vision, autism may broadly alter neural computation. Here, we propose that alterations in nonlinear, canonical computations occurring throughout the brain may underlie the behavioral characteristics of autism. One such computation, called divisive normalization, balances a neuron's net excitation with inhibition reflecting the overall activity of the neuronal population. Through neural network simulations, we investigate how alterations in divisive normalization may give rise to autism symptomatology. Our findings show that a reduction in the amount of inhibition that occurs through divisive normalization can account for perceptual consequences of autism, consistent with the hypothesis of an increased ratio of neural excitation to inhibition (E/I) in the disorder. These results thus establish a bridge between an E/I imbalance and behavioral data on autism that is currently absent. Interestingly, our findings implicate the context-dependent, neuronal milieu as a key factor in autism symptomatology, with autism reflecting a less "social" neuronal population. Through a broader discussion of perceptual data, we further examine how altered divisive normalization may contribute to a wide array of the disorder's behavioral consequences. These analyses show how a computational framework can provide insights into the neural basis of autism and facilitate the generation of falsifiable hypotheses. A computational perspective on autism may help resolve debates within the field and aid in identifying physiological pathways to target in the treatment of the disorder.

  5. 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.

  6. 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.

  7. 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

  8. Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.

    Science.gov (United States)

    Matuszek, Gregory; Talebizadeh, Zohreh

    2009-09-24

    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. 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. 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 community to evaluate genetic findings for this complex

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. 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. Assess prevalence of psychiatric disorders in individuals with intellectual disability only (ID-only) and with combination of autism and ID (autism). Sixty-two (autism) and 132 (ID-only) participants were screened for psychiatric disorders with the Psychopathology in Autism Checklist (PAC); included general adjustment problems (GAP), and severe adjustment problems (SGAP) in one county in Norway. Psychosis, depression, anxiety, and OCD were addressed. Both SGAP and a high psychiatric disorder score were required to screen a psychiatric disorder. "Diagnostic overlap" was defined as more than one psychiatric disorder concurrent with autism. Psychiatric disorders and SGAP were found to be high both in the autism (53.2%) and ID-only group (17.4%). More than 50% of the autism and approximately 20% of ID-only group had SGAP. The differences were significant. The autism-psychiatric disorder interaction was significant. The largest differences between the prevalence in the autism and the ID-only group were shown in individuals with anxiety. The majority of the individuals in both study groups were afflicted with more than one psychiatric disorder. About 60% were found to have more than one disorder. The individuals with more severe psychiatric symptoms had higher degrees of diagnostic overlap. Having an intellectual disability seem to imply high risk for developing adjustment problems, and it seems especially difficult for individuals with autism to master every-day challenges. Copyright © 2010 Elsevier Ltd. All rights reserved.

  14. A Marketing Approach Towards the Sufficiency of Ready-Made Garments to Satisfy the Needs of Children With Autism

    Directory of Open Access Journals (Sweden)

    Mehmet Akalın

    2015-06-01

    Full Text Available Autism is a term of which we have been aware recently in our country through visual and printed media and which we have seen examples around us. Together with opening Dependent and Independent Education Centres for Children with Autism, children with autism have found the opportunity to receive education in line with their needs. With individual education programs developed by the teacher suitable for the development of the child with autism, they can acquire skills in various development areas. Dressing skill, which is one of the main skills necessary for every individual, is a mandatory skill that children with autism need to acquire to satisfy their own needs. In the first three parts of the study a conceptual frame was given and the definition, history, types, characteristics, and behaviour problems of children with autism were presented, and clothing comfort and other concepts were explained. In the fourth part, method, material, research approach, sample and population, numerals, limitations, data collection technique and data analysis technique were explained and the results were presented in tables. The study was carried out to reveal dressing problems children with autism encounter and to determine to what extent the clothes made by ready-made clothing sector satisfy the needs of children with autism and it was found that children with autism have difficulties in using ready-made clothes.

  15. 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.

  16. 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.

  17. Addressing voice recording replications for tracking Parkinson's disease progression.

    Science.gov (United States)

    Naranjo, Lizbeth; Pérez, Carlos J; Martín, Jacinto

    2017-03-01

    Tracking Parkinson's disease symptom severity by using characteristics automatically extracted from voice recordings is a very interesting and challenging problem. In this context, voice features are automatically extracted from multiple voice recordings from the same subjects. In principle, for each subject, the features should be identical at a concrete time, but the imperfections in technology and the own biological variability result in nonidentical replicated features. The involved within-subject variability must be addressed since replicated measurements from voice recordings can not be directly used in independence-based pattern recognition methods as they have been routinely used through the scientific literature. Besides, the time plays a key role in the experimental design. In this paper, for the first time, a Bayesian linear regression approach suitable to handle replicated measurements and time is proposed. Moreover, a version favoring the best predictors and penalizing the worst ones is also presented. Computational difficulties have been avoided by developing Gibbs sampling-based approaches.

  18. 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

  19. 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...... which shape the introduction of new to the firm and new to the world innovations. We provide some implications for innovation research, and explore the potential application of our approach to other domains of research in strategic management.......Many fields of strategic management are subject to an important degree of model uncertainty. This is because the true model, and therefore the selection of appropriate explanatory variables, is essentially unknown. Drawing on the literature on the determinants of innovation, and by analyzing...

  20. 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.

  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. A question of balance: a proposal for new mouse models of autism.

    Science.gov (United States)

    Murcia, Crystal L; Gulden, Forrest; Herrup, Karl

    2005-01-01

    Autism spectrum disorder (ASD) represents a major mental health problem with estimates of prevalence ranging from 1/500 to 1/2000. While generally recognized as developmental in origin, little to nothing is certain about its etiology. Currently, diagnosis is made on the basis of a variety of early developmental delays and/or regressions in behavior. There are no universally agreed upon changes in brain structure or cell composition. No biomarkers of any type are available to aid or confirm the clinical diagnosis. In addition, while estimates of the heritability of the condition range from 60 to 90%, as of this writing no disease gene has been unequivocally identified. The prevalence of autism is three- to four-fold higher in males than in females, but the reason for this sexual dimorphism is unknown. In light of all of these ambiguities, a proposal to discuss potential animal models may seem the heart of madness. However, parsing autism into its individual genetic, behavioral, and neurobiological components has already facilitated a 'conversation' between the human disease and the neuropathology and biochemistry underlying the disorder. Building on these results, it should be possible to not just replicate one aspect of autism but to connect the developmental abnormalities underlying the ultimate behavioral phenotype. A reciprocal conversation such as this, wherein the human disease informs on how to make a better animal model and the animal model teaches of the biology causal to autism, would be highly beneficial.

  3. The effectiveness of video prompting on teaching aquatic play skills for children with autism.

    Science.gov (United States)

    Yanardag, Mehmet; Akmanoglu, Nurgul; Yilmaz, Ilker

    2013-01-01

    To investigate the effectiveness of the video prompting procedure on teaching aquatic play skills and to determine the effects of aquatic exercise training on the motor performance of children with autism. A multiple probe design across behaviours was used and replicated across subjects for the instructional part of this study. Pretest-posttest design was applied for the exercise training part of this study. Three children with autism were taught three aquatic play skills in a one-to-one training format. Aquatic play skills intervention and aquatic exercise training were performed separately throughout 12 weeks at three sessions per week, each lasting 1 h. The video prompting procedure was utilized for the instruction part of this study. Video prompting was effective in teaching aquatic play skills to children with autism. In addition, aquatic exercise training increased the total motor performance scores of all the participants after 12 weeks. According to the social validity results, the families gave positive feedback about the learned skills and movement capabilities of their children. Aquatic play skills and swimming pools are favoured for children with autism. This attractive intervention is recommended as a means to extend knowledge of leisure skills and motor development of children with autism.

  4. 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.

  5. Replication of Muscle Cell Using Bioimprint

    Science.gov (United States)

    Samsuri, Fahmi; Mitchell, John S.; Alkaisi, Maan M.; Evans, John J.

    2009-07-01

    In our earlier study a heat-curable PDMS or a UV curable elastomer, was used as the replicating material to introduce Bioimprint methodology to facilitate cell imaging [1-2] But, replicating conditions for thermal polymerization is known to cause cell dehydration during curing. In this study, a new type of polymer was developed for use in living cell replica formation, and it was tested on human muscle cells. The cells were incubated and cultured according to standard biological culturing procedures, and they were grown for about 10 days. The replicas were then separated from the muscle cells and taken for analysis under an Atomic Force Microscope (AFM). The new polymer was designed to be biocompatible with higher resolution and fast curing process compared to other types of silicon-based organic polymers such as polydimethylsiloxane (PDMS). Muscle cell imprints were achieved and higher resolution images were able to show the micro structures of the muscle cells, including the cellular fibers and cell membranes. The AFM is able to image features at nanoscale resolution. This capacity enables a number of characteristics of biological cells to be visualized in a unique manner. Polymer and muscle cells preparations were developed at Hamilton, in collaboration between Plant and Food Research and the Department of Electrical and Computer Engineering, University of Canterbury. Tapping mode was used for the AFM image analysis as it has low tip-sample forces and non-destructive imaging capability. We will be presenting the bioimprinting processes of muscle cells, their AFM imaging and characterization of the newly developed polymer.

  6. Failure to Replicate Depletion of Self-Control

    Science.gov (United States)

    Xu, Xiaomeng; Demos, Kathryn E.; Leahey, Tricia M.; Hart, Chantelle N.; Trautvetter, Jennifer; Coward, Pamela; Middleton, Kathryn R.; Wing, Rena R.

    2014-01-01

    The limited resource or strength model of self-control posits that the use of self-regulatory resources leads to depletion and poorer performance on subsequent self-control tasks. We conducted four studies (two with community samples, two with young adult samples) utilizing a frequently used depletion procedure (crossing out letters protocol) and the two most frequently used dependent measures of self-control (handgrip perseverance and modified Stroop). In each study, participants completed a baseline self-control measure, a depletion or control task (randomized), and then the same measure of self-control a second time. There was no evidence for significant depletion effects in any of these four studies. The null results obtained in four attempts to replicate using strong methodological approaches may indicate that depletion has more limited effects than implied by prior publications. We encourage further efforts to replicate depletion (particularly among community samples) with full disclosure of positive and negative results. PMID:25333564

  7. Failure to replicate depletion of self-control.

    Directory of Open Access Journals (Sweden)

    Xiaomeng Xu

    Full Text Available The limited resource or strength model of self-control posits that the use of self-regulatory resources leads to depletion and poorer performance on subsequent self-control tasks. We conducted four studies (two with community samples, two with young adult samples utilizing a frequently used depletion procedure (crossing out letters protocol and the two most frequently used dependent measures of self-control (handgrip perseverance and modified Stroop. In each study, participants completed a baseline self-control measure, a depletion or control task (randomized, and then the same measure of self-control a second time. There was no evidence for significant depletion effects in any of these four studies. The null results obtained in four attempts to replicate using strong methodological approaches may indicate that depletion has more limited effects than implied by prior publications. We encourage further efforts to replicate depletion (particularly among community samples with full disclosure of positive and negative results.

  8. 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.

  9. Replicating chromatin: a tale of histones

    DEFF Research Database (Denmark)

    Groth, Anja

    2009-01-01

    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...... reassembly on nascent DNA strands. The aim of this review is to discuss how histones - new and old - are handled at the replication fork, highlighting new mechanistic insights and revisiting old paradigms....

  10. 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.

  11. Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.

    Directory of Open Access Journals (Sweden)

    Eyal Ben-David

    Full Text Available Autism spectrum disorders (ASD are neurodevelopmental disorders with phenotypic and genetic heterogeneity. Recent studies have reported rare and de novo mutations in ASD, but the allelic architecture of ASD remains unclear. To assess the role of common and rare variations in ASD, we constructed a gene co-expression network based on a widespread survey of gene expression in the human brain. We identified modules associated with specific cell types and processes. By integrating known rare mutations and the results of an ASD genome-wide association study (GWAS, we identified two neuronal modules that are perturbed by both rare and common variations. These modules contain highly connected genes that are involved in synaptic and neuronal plasticity and that are expressed in areas associated with learning and memory and sensory perception. The enrichment of common risk variants was replicated in two additional samples which include both simplex and multiplex families. An analysis of the combined contribution of common variants in the neuronal modules revealed a polygenic component to the risk of ASD. The results of this study point toward contribution of minor and major perturbations in the two sub-networks of neuronal genes to ASD risk.

  12. 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

  13. 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....

  14. The autism-epilepsy connection.

    Science.gov (United States)

    Levisohn, Paul M

    2007-01-01

    The high prevalence of epilepsy in children with autism supports a neurobiologic etiology for autism. It remains unclear whether seizures and epileptiform activity on the EEG are causative or comorbid. It is also uncertain if focal epileptiform EEG abnormalities may be associated with stable cognitive impairment. Even less clear is whether these EEG abnormalities can result in the combination of language and social dysfunction seen in autistic spectrum disorders.

  15. Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ

    Directory of Open Access Journals (Sweden)

    Wheelwright Sally

    2010-06-01

    Full Text Available Abstract Background The Autism Spectrum Quotient (AQ is a self-report questionnaire for quantifying autistic traits. This study tests whether the AQ can differentiate between parents of children with an autism spectrum condition (ASC and control parents. In this paper, the use of the AQ to define the broader, medium and narrow autism phenotypes (BAP, MAP, NAP is reported, and the proportion of parents with each phenotype is compared between the two groups. Methods A sample of 571 fathers and 1429 mothers of children with an ASC completed the AQ, along with 349 fathers and 658 mothers of developing typically children. Results Both mothers and fathers of the diagnosed children scored higher than the control parents on total AQ score and on four out of five of the subscales. Additionally, there were more parents of diagnosed children with a BAP, MAP or NAP. Conclusions The AQ provides an efficient method for quantifying where an individual lies along the dimension of autistic traits, and extends the notion of a broader phenotype among first-degree relatives of those with ASC. The AQ is likely to have many applications, including population and clinical screening, and stratification in genetic studies.

  16. 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

  17. The clinician's guide to autism.

    Science.gov (United States)

    Harrington, John W; Allen, Korrie

    2014-02-01

    On the basis of the most recent epidemiologic research, Autism Spectrum Disorder (ASD) affects approximately 1% to 2% of all children. (1)(2) On the basis of some research evidence and consensus, the Modified Checklist for Autism in Toddlers isa helpful tool to screen for autism in children between ages 16 and 30 months. (11) The Diagnostic Statistical Manual of Mental Disorders, Fourth Edition, changes to a 2-symptom category from a 3-symptom category in the Diagnostic Statistical Manual of Mental Disorders, Fifth Edition(DSM-5): deficits in social communication and social interaction are combined with repetitive and restrictive behaviors, and more criteria are required per category. The DSM-5 subsumes all the previous diagnoses of autism (classic autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified) into just ASDs. On the basis of moderate to strong evidence, the use of applied behavioral analysis and intensive behavioral programs has a beneficial effect on language and the core deficits of children with autism. (16) Currently, minimal or no evidence is available to endorse most complementary and alternative medicine therapies used by parents, such as dietary changes (gluten free), vitamins, chelation, and hyperbaric oxygen. (16) On the basis of consensus and some studies, pediatric clinicians should improve their capacity to provide children with ASD a medical home that is accessible and provides family-centered, continuous, comprehensive and coordinated, compassionate, and culturally sensitive care. (20)

  18. Meconium exposure and autism risk.

    Science.gov (United States)

    Miller, K M; Xing, G; Walker, C K

    2017-02-01

    This study aims to determine whether fetal meconium passage is associated with autism. This retrospective birth cohort analysis of 9 945 896 children born in California 1991 to 2008 linked discharge diagnosis and procedure codes for prenatal stressors, meconium-stained amniotic fluid (MSAF) and meconium aspiration syndrome (MAS) with autism diagnoses for 47 277 children through 2012. We assessed the relative risk of autism by meconium status using logistic regression, adjusting for demographic and clinical features. Children exposed to meconium (MSAF and MAS) were more likely to be diagnosed with autism in comparison with unexposed children (0.60% and 0.52%, vs 0.47%, respectively). In adjusted analyses, there was a small increase in autism risk associated with MSAF exposure (adjusted relative risk (aRR) 1.18, 95% confidence interval (CI) 1.12 to 1.25), and a marginal association that failed to achieve significance between MAS and autism (aRR 1.08, 95% CI 0.98 to 1.20). Resuscitation of neonates with respiratory compromise from in utero meconium exposure may mitigate long-term neurodevelopmental damage.

  19. 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.

  20. 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

  1. 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 ...

  2. 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 ...

  3. Upbringing and education of children with autism

    OpenAIRE

    Čížkovská, Lucie

    2012-01-01

    The theme of this thesis is upbringing and education of children with autism. The text is divided into five parts. The first chapter is primarily devoted to the diagnosis. There are introduced the types of autism spectrum disorders and disorders, which can be associated with autism. Furthermore, I describe the typical symptoms of autism in social interaction, communication, imagination, and more. The following chapter deals with possible treatments and therapies and various educational method...

  4. Employment of people with autism spectrum disorders

    OpenAIRE

    Andrlová, Lucie

    2011-01-01

    The bachelor thesis deals with adult people with Autism Spectrum Disorders, especially Asperger's Syndrome and High Functioning Autism, in connection with their employment in the Czech Republic. The goal of this thesis is to find out the labour opportunities and the support for these people. The thesis consists of a theoretical part and a case study. Introductory chapter describes Autism in general and defines all of Autism Spectrum Disorders. The second chapter is already focused on adults a...

  5. High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

    Directory of Open Access Journals (Sweden)

    Raymond J Kelleher

    Full Text Available Identification of common molecular pathways affected by genetic variation in autism is important for understanding disease pathogenesis and devising effective therapies. Here, we test the hypothesis that rare genetic variation in the metabotropic glutamate-receptor (mGluR signaling pathway contributes to autism susceptibility. Single-nucleotide variants in genes encoding components of the mGluR signaling pathway were identified by high-throughput multiplex sequencing of pooled samples from 290 non-syndromic autism cases and 300 ethnically matched controls on two independent next-generation platforms. This analysis revealed significant enrichment of rare functional variants in the mGluR pathway in autism cases. Higher burdens of rare, potentially deleterious variants were identified in autism cases for three pathway genes previously implicated in syndromic autism spectrum disorder, TSC1, TSC2, and SHANK3, suggesting that genetic variation in these genes also contributes to risk for non-syndromic autism. In addition, our analysis identified HOMER1, which encodes a postsynaptic density-localized scaffolding protein that interacts with Shank3 to regulate mGluR activity, as a novel autism-risk gene. Rare, potentially deleterious HOMER1 variants identified uniquely in the autism population affected functionally important protein regions or regulatory sequences and co-segregated closely with autism among children of affected families. We also identified rare ASD-associated coding variants predicted to have damaging effects on components of the Ras/MAPK cascade. Collectively, these findings suggest that altered signaling downstream of mGluRs contributes to the pathogenesis of non-syndromic autism.

  6. 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.

  7. ATM and ATR Activities Maintain Replication Fork Integrity during SV40 Chromatin Replication

    Science.gov (United States)

    Sowd, Gregory A.; Li, Nancy Yan; Fanning, Ellen

    2013-01-01

    Mutation of DNA damage checkpoint signaling kinases ataxia telangiectasia-mutated (ATM) or ATM- and Rad3-related (ATR) results in genomic instability disorders. However, it is not well understood how the instability observed in these syndromes relates to DNA replication/repair defects and failed checkpoint control of cell cycling. As a simple model to address this question, we have studied SV40 chromatin replication in infected cells in the presence of inhibitors of ATM and ATR activities. Two-dimensional gel electrophoresis and southern blotting of SV40 chromatin replication products reveal that ATM activity prevents accumulation of unidirectional replication products, implying that ATM promotes repair of replication-associated double strand breaks. ATR activity alleviates breakage of a functional fork as it converges with a stalled fork. The results suggest that during SV40 chromatin replication, endogenous replication stress activates ATM and ATR signaling, orchestrating the assembly of genome maintenance machinery on viral replication intermediates. PMID:23592994

  8. Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology.

    Science.gov (United States)

    Nguyen, Lam Son; Lepleux, Marylin; Makhlouf, Mélanie; Martin, Christelle; Fregeac, Julien; Siquier-Pernet, Karine; Philippe, Anne; Feron, François; Gepner, Bruno; Rougeulle, Claire; Humeau, Yann; Colleaux, Laurence

    2016-01-01

    Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders caused by the interaction between genetic vulnerability and environmental factors. MicroRNAs (miRNAs) are key posttranscriptional regulators involved in multiple aspects of brain development and function. Previous studies have investigated miRNAs expression in ASD using non-neural cells like lymphoblastoid cell lines (LCL) or postmortem tissues. However, the relevance of LCLs is questionable in the context of a neurodevelopmental disorder, and the impact of the cause of death and/or post-death handling of tissue likely contributes to the variations observed between studies on brain samples. miRNA profiling using TLDA high-throughput real-time qPCR was performed on miRNAs extracted from olfactory mucosal stem cells (OMSCs) biopsied from eight patients and six controls. This tissue is considered as a closer tissue to neural stem cells that could be sampled in living patients and was never investigated for such a purpose before. Real-time PCR was used to validate a set of differentially expressed miRNAs, and bioinformatics analysis determined common pathways and gene targets. Luciferase assays and real-time PCR analysis were used to evaluate the effect of miRNAs misregulation on the expression and translation of several autism-related transcripts. Viral vector-mediated expression was used to evaluate the impact of miRNAs deregulation on neuronal or glial cells functions. We identified a signature of four miRNAs (miR-146a, miR-221, miR-654-5p, and miR-656) commonly deregulated in ASD. This signature is conserved in primary skin fibroblasts and may allow discriminating between ASD and intellectual disability samples. Putative target genes of the differentially expressed miRNAs were enriched for pathways previously associated to ASD, and altered levels of neuronal transcripts targeted by miR-146a, miR-221, and miR-656 were observed in patients' cells. In the mouse brain, miR-146a, and miR-221

  9. 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…

  10. Change in Autism Core Symptoms with Intervention

    Science.gov (United States)

    Zachor, Ditza A.; Ben-Itzchak, Esther; Rabinovich, Ana-Lia; Lahat, Eli

    2007-01-01

    It is still debated what is the best early intervention approach for autism. This study compared two intervention approaches, Eclectic-Developmental (ED) and Applied Behavioral Analysis (ABA) in very young children with autism/autism spectrum disorder (ASD). Nineteen children received ED intervention, using combination of methods. Twenty children…

  11. Dialogic Linkage and Resonance in Autism

    Science.gov (United States)

    Hobson, R. Peter; Hobson, Jessica A.; Garcia-Perez, Rosa; Du Bois, John

    2012-01-01

    We evaluated how children with autism make linguistic adjustments when talking with someone else. We devised two novel measures to assess (a) overall conversational linkage and (b) utterance-by-utterance resonance within dialogue between an adult and matched participants with and without autism (n = 12 per group). Participants with autism were…

  12. Awareness and knowledge of autism among pharmacists.

    Science.gov (United States)

    Khanna, Rahul; Jariwala, Krutika

    2012-01-01

    In the past few decades, the prevalence of autism has increased tremendously in the United States. The prevalence of autism is now higher than the combined prevalence of juvenile diabetes, pediatric cancer, and pediatric AIDS. As health care professionals with a high visibility in a community, pharmacists are likely to encounter more and more families having a child affected by this disorder. The purpose of this study was to assess pharmacists' awareness and knowledge of autism. The study aimed to assess pharmacists' familiarity with autism symptoms, treatment medications, and community resources devoted to this disorder. Further, pharmacists' knowledge of common myths associated with autism, etiology, prognosis, and treatment were assessed. Using a cross-sectional design, an online survey of pharmacists registered in the state of Mississippi (MS) was conducted, using the Qualtrics software program. Descriptive analysis of study items was conducted. A total of 147 usable responses (5.8%) were received. The results indicated gaps in pharmacists' awareness and knowledge of autism. Approximately, 23% of pharmacists did not know that autism is a developmental disorder, and 32% did not believe that genetics has a major role in autism etiology. More than 18% believed that vaccines can cause autism. Most (>90%) felt that they could benefit from autism continuing education (CE). Policy makers and autism agencies should consider providing educational interventions or CE programs to increase pharmacists' awareness and knowledge of autism. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. 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.…

  14. 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…

  15. 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…

  16. Elderly with autism: Executive functions and memory

    NARCIS (Netherlands)

    Geurts, H.M.; Vissers, M.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

  17. Why Autism Must Be Taken Apart

    Science.gov (United States)

    Waterhouse, Lynn; Gillberg, Christopher

    2014-01-01

    Although accumulated evidence has demonstrated that autism is found with many varied brain dysfunctions, researchers have tried to find a single brain dysfunction that would provide neurobiological validity for autism. However, unitary models of autism brain dysfunction have not adequately addressed conflicting evidence, and efforts to find a…

  18. 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…

  19. 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…

  20. A Comparison of Topography-Based and Selection-Based Verbal Behavior in Typically Developed Children and Developmentally Disabled Persons with Autism

    Science.gov (United States)

    Vignes, Tore

    2007-01-01

    This study is a replication of Sundberg and Sundberg (1990) that compared topography-based verbal behavior with selection-based verbal behavior in terms of acquisition, accuracy, and testing for the emergence of a new verbal relation. Participants were three typical children and three developmentally disabled persons with autism. The study sought…

  1. Host factors involved in chikungunya virus replication

    NARCIS (Netherlands)

    Scholte, Florine Elisabeth Maria

    2015-01-01

    In this thesis the interplay of CHIKV with cellular (host) factors involved in its replication is addressed. An in-depth understanding of the interactions between the viral proteins and those of their host is required for the elucidation of molecular mechanisms underlying viral replication. A

  2. 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…

  3. 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…

  4. Identification of Psychometric Characteristics of Sample of Vocal Behaviour and Interaction Assessment Record Forms

    OpenAIRE

    Aksoy, Veysel; Diken, İbrahim H.

    2016-01-01

    The purpose of thisresearch is to study the Sample of Vocal Behaviour Record Form (SVBRF),included in the third edition of Autism Screening Instrument for EducationalPlanning-3 (ASIEP-3), and the psychometric properties of the trucked forms forthe informal assessment tools of Autism Screening Instrument for EducationalPlanning-3 (ASIEP-3). The rationale for the research is the lack ofstandardised informal assessment tools to use for the educational assessment ofchildren with Autism Spectrum D...

  5. Hypotension and Environmental Noise: A Replication Study

    Directory of Open Access Journals (Sweden)

    Peter Lercher

    2014-08-01

    Full Text Available Up to now, traffic noise effect studies focused on hypertension as health outcome. Hypotension has not been considered as a potential health outcome although in experiments some people also responded to noise with decreases of blood pressure. Currently, the characteristics of these persons are not known and whether this down regulation of blood pressure is an experimental artifact, selection, or can also be observed in population studies is unanswered. In a cross-sectional replication study, we randomly sampled participants (age 20–75, N = 807 from circular areas (radius = 500 m around 31 noise measurement sites from four noise exposure strata (35–44, 45–54, 55–64, >64 Leq, dBA. Repeated blood pressure measurements were available for a smaller sample (N = 570. Standardized information on socio-demographics, housing, life style and health was obtained by door to door visits including anthropometric measurements. Noise and air pollution exposure was assigned by GIS based on both calculation and measurements. Reported hypotension or hypotension medication past year was the main outcome studied. Exposure-effect relationships were modeled with multiple non-linear logistic regression techniques using separate noise estimations for total, highway and rail exposure. Reported hypotension was significantly associated with rail and total noise exposure and strongly modified by weather sensitivity. Reported hypotension medication showed associations of similar size with rail and total noise exposure without effect modification by weather sensitivity. The size of the associations in the smaller sample with BMI as additional covariate was similar. Other important cofactors (sex, age, BMI, health and moderators (weather sensitivity, adjacent main roads and associated annoyance need to be considered as indispensible part of the observed relationship. This study confirms a potential new noise effect pathway and discusses potential patho

  6. 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.

  7. 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.

  8. Characteristics of the poliovirus replication complex.

    Science.gov (United States)

    Bienz, K; Egger, D; Pfister, T

    1994-01-01

    In the infected cell, the poliovirus replication complex (RC) is found in the center of a rosette formed by many virus-induced vesicles. The RC is attached to the vesicular membranes and contains a compact central part which encloses the replication forks of the replicative intermediate and all proteins necessary for strand elongation. The growing plus strands of the replicative intermediate protrude from the central part of the RC, but are still enclosed by membraneous structures of the rosette. After completion, progeny 36S RNA is set free at the surface of the rosette. In an in vitro transcription system, isolated replication complex-containing rosettes are active in initiation, elongation and maturation (release) of plus strand progeny RNA. Full functionality of the RC depends on an intact structural framework of all membraneous components of the rosette.

  9. 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…

  10. 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.

  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. 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

  13. Autism spectrum disorder and pet therapy.

    Science.gov (United States)

    Siewertsen, Caitlin M; French, Emma D; Teramoto, Masaru

    2015-01-01

    Autism Spectrum Disorder (ASD) encompasses a wide range of social and mental afflictions that are difficult to treat. Due to a lack of established treatments for ASD, alternative therapies have been the primary form of intervention. One of these alternatives is pet therapy, a field that has experienced growing interest and has recently accumulated studies that investigate its efficacy. This article reviews and summarizes that effectiveness as well as the findings and limitations associated with pet therapy for ASD. The majority of research on ASD and pet therapy has examined children and has primarily used dogs and horses for therapy. Studies have shown positive effects for the therapy, including high satisfaction rates among the participants' families. Major limitations of studies in the current literature include the lack of control groups and small sample sizes. Future research should incorporate better study designs and large samples to validate pet therapy as an appropriate treatment for ASD.

  14. [Autism spectrum syndrome replaces Asperger syndrome and autism].

    Science.gov (United States)

    Bejerot, Susanne; Nordin, Viviann

    2014-09-23

    Autism spectrum disorder describes a behaviourally defined impairment in social interaction and communication, along with the presence of restricted interests and repetitive behaviours. Although the etiology is mostly unknown, it is evident that biological factors affect the brain and result in the autistic clinical presentation. Assessment for diagnosing autism spectrum disorder should be comprehensive in order to cover all sorts of problems related to the disorder. Knowledge and experience from working with neurological and psychiatric disorders are a prerequisite for quality in the examination. Up to now, there is no cure for autism spectrum disorder, but support and adaptations in education are nevertheless important for obtaining sufficient life quality for the patients and the family.

  15. Functional neuroimaging and childhood autism

    Energy Technology Data Exchange (ETDEWEB)

    Boddaert, Nathalie [Service de Radiologie Pediatrique, Necker-Enfants Malades Hospital, Paris (France); Service Hospitalier Frederic Joliot, DRM, DSV, CEA, Orsay (France); Zilbovicius, Monica [Service Hospitalier Frederic Joliot, DRM, DSV, CEA, Orsay (France); INSERM, Tours (France)

    2002-01-01

    Childhood autism is now widely viewed as being of developmental neurobiological origin. Yet, localised structural and functional brain correlates of autism have to be established. Structural brain-imaging studies performed in autistic patients have reported abnormalities such as increased total brain volume and cerebellar abnormalities. However, none of these abnormalities fully account for the full range of autistic symptoms. Functional brain imaging, such as positron emission tomography (PET), single photon emission computed tomography (SPECT) and functional MRI (fMRI) have added a new perspective to the study of normal and pathological brain functions. In autism, functional studies have been performed at rest or during activation. However, first-generation functional imaging devices were not sensitive enough to detect any consistent dysfunction. Recently, with improved technology, two independent groups have reported bilateral hypoperfusion of the temporal lobes in autistic children. In addition, activation studies, using perceptive and cognitive paradigms, have shown an abnormal pattern of cortical activation in autistic patients. These results suggest that different connections between particular cortical regions could exist in autism. The purpose of this review is to present the main results of rest and activation studies performed in autism. (orig.)

  16. Stability and Change in Autism Spectrum Disorder Diagnosis from Age 3 to Middle Childhood in a High-Risk Sibling Cohort

    Science.gov (United States)

    Brian, Jessica; Bryson, Susan E.; Smith, Isabel M.; Roberts, Wendy; Roncadin, Caroline; Szatmari, Peter; Zwaigenbaum, Lonnie

    2016-01-01

    Considerable evidence on autism spectrum disorder emergence comes from longitudinal high-risk samples (i.e. younger siblings of children with autism spectrum disorder). Diagnostic stability to age 3 is very good when diagnosed as early as 18-24 months, but sensitivity is weaker, and relatively little is known beyond toddlerhood. We examined…

  17. Making the Transition from Diagnosis to Treatment-Planning: Validity, Reliability and Factor Structure of the Autism Spectrum Disorder Behaviour Checklist

    Science.gov (United States)

    Bitsika, Vicki; Sharpley, Christopher F.

    2018-01-01

    The validity, reliability and factor structure of the Autism Spectrum Disorder Behaviour Checklist-Revised (ASDBC-R) were measured in a sample of 140 boys with Autism Spectrum Disorder (ASD) aged between 6 and 18 years. Internal consistency (Cronbach's alpha) was satisfactory and the ASDBC-R significantly correlated with the Social Responsiveness…

  18. 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.

  19. 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.

  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

  1. What aspects of autism predispose to talent?

    Science.gov (United States)

    Happé, Francesca; Vital, Pedro

    2009-05-27

    In this paper, we explore the question, why are striking special skills so much more common in autism spectrum conditions (ASC) than in other groups? Current cognitive accounts of ASC are briefly reviewed in relation to special skills. Difficulties in 'theory of mind' may contribute to originality in ASC, since individuals who do not automatically 'read other minds' may be better able to think outside prevailing fashions and popular theories. However, originality alone does not confer talent. Executive dysfunction has been suggested as the 'releasing' mechanism for special skills in ASC, but other groups with executive difficulties do not show raised incidence of talents. Detail-focused processing bias ('weak coherence', 'enhanced perceptual functioning') appears to be the most promising predisposing characteristic, or 'starting engine', for talent development. In support of this notion, we summarize data from a population-based twin study in which parents reported on their 8-year-olds' talents and their ASC-like traits. Across the whole sample, ASC-like traits, and specifically 'restricted and repetitive behaviours and interests' related to detail focus, were more pronounced in children reported to have talents outstripping older children. We suggest that detail-focused cognitive style predisposes to talent in savant domains in, and beyond, autism spectrum disorders.

  2. The visual rooting reflex in individuals with autism spectrum disorders and co-occurring intellectual disability.

    Science.gov (United States)

    de Bildt, Annelies; Mulder, Erik J; Van Lang, Natasja D J; de With, S A Jytte; Minderaa, Ruud B; Stahl, Sherin S; Anderson, George M

    2012-02-01

    The rooting reflex has long been studied by neurologists and developmentalists and is defined as an orientation toward tactile stimulation in the perioral region or visual stimulation near the face. Nearly, all previous reports of the visual rooting reflex (VRR) concern its presence in adults with neurological dysfunction. Previously, the VRR was reported to be present in a majority of individuals with autism and absent in control subjects. In the present larger study, we examined the presence of the VRR in 155 individuals with ASD and co-occurring Intellectual Disability (ASD + ID: autism, N = 60; Pervasive Developmental Disorder-Not Otherwise Specified (PDD_NOS), N = 95) and in a contrast group of 65 individuals with ID only. The VRR was present significantly more often in the ASD + ID (43.9%) group than in the ID-only group (24.6%; χ(1)(2)= 7.19; P = 0.007). Individuals with autism displayed a VRR more often (55.0%) than individuals with PDD-NOS (36.8%; χ(1)(2)= 4.92; P = 0.026) and individuals with ID only (24.6%; χ(1)(2)= 12.09; P = 0.001). A positive VRR was associated with lower IQ and adaptive functioning; in the ASD + ID group, ADI-R/ADOS domain scores were significantly higher in the VRR-positive subgroup. The results replicate and extend the finding of an increased occurrence of the VRR in autism. Although some association with IQ was observed, the VRR occurred substantially more often in the autism group compared with an intellectually disabled group, indicating some degree of specificity. Additional studies of infants and children with typical development, ASD and ID are needed to determine the utility of the VRR in ASD risk assessment and to elucidate possible specific behavioral associations. Copyright © 2011, International Society for Autism Research, Wiley-Liss, Inc.

  3. Replicated Data Management for Mobile Computing

    CERN Document Server

    Douglas, Terry

    2008-01-01

    Managing data in a mobile computing environment invariably involves caching or replication. In many cases, a mobile device has access only to data that is stored locally, and much of that data arrives via replication from other devices, PCs, and services. Given portable devices with limited resources, weak or intermittent connectivity, and security vulnerabilities, data replication serves to increase availability, reduce communication costs, foster sharing, and enhance survivability of critical information. Mobile systems have employed a variety of distributed architectures from client-server

  4. Replication and Analysis of Ebbinghaus' Forgetting Curve.

    Science.gov (United States)

    Murre, Jaap M J; Dros, Joeri

    2015-01-01

    We present a successful replication of Ebbinghaus' classic forgetting curve from 1880 based on the method of savings. One subject spent 70 hours learning lists and relearning them after 20 min, 1 hour, 9 hours, 1 day, 2 days, or 31 days. The results are similar to Ebbinghaus' original data. We analyze the effects of serial position on forgetting and investigate what mathematical equations present a good fit to the Ebbinghaus forgetting curve and its replications. We conclude that the Ebbinghaus forgetting curve has indeed been replicated and that it is not completely smooth but most probably shows a jump upwards starting at the 24 hour data point.

  5. Replication and Analysis of Ebbinghaus’ Forgetting Curve

    Science.gov (United States)

    Murre, Jaap M. J.; Dros, Joeri

    2015-01-01

    We present a successful replication of Ebbinghaus’ classic forgetting curve from 1880 based on the method of savings. One subject spent 70 hours learning lists and relearning them after 20 min, 1 hour, 9 hours, 1 day, 2 days, or 31 days. The results are similar to Ebbinghaus' original data. We analyze the effects of serial position on forgetting and investigate what mathematical equations present a good fit to the Ebbinghaus forgetting curve and its replications. We conclude that the Ebbinghaus forgetting curve has indeed been replicated and that it is not completely smooth but most probably shows a jump upwards starting at the 24 hour data point. PMID:26148023

  6. Replication and Analysis of Ebbinghaus' Forgetting Curve.

    Directory of Open Access Journals (Sweden)

    Jaap M J Murre

    Full Text Available We present a successful replication of Ebbinghaus' classic forgetting curve from 1880 based on the method of savings. One subject spent 70 hours learning lists and relearning them after 20 min, 1 hour, 9 hours, 1 day, 2 days, or 31 days. The results are similar to Ebbinghaus' original data. We analyze the effects of serial position on forgetting and investigate what mathematical equations present a good fit to the Ebbinghaus forgetting curve and its replications. We conclude that the Ebbinghaus forgetting curve has indeed been replicated and that it is not completely smooth but most probably shows a jump upwards starting at the 24 hour data point.

  7. Replication-Competent Controlled Herpes Simplex Virus.

    Science.gov (United States)

    Bloom, David C; Feller, Joyce; McAnany, Peterjon; Vilaboa, Nuria; Voellmy, Richard

    2015-10-01

    We present the development and characterization of a replication-competent controlled herpes simplex virus 1 (HSV-1). Replication-essential ICP4 and ICP8 genes of HSV-1 wild-type strain 17syn+ were brought under the control of a dually responsive gene switch. The gene switch comprises (i) a transactivator that is activated by a narrow class of antiprogestins, including mifepristone and ulipristal, and whose expression is mediated by a promoter cassette that comprises an HSP70B promoter and a transactivator-responsive promoter and (ii) transactivator-responsive promoters that drive the ICP4 and ICP8 genes. Single-step growth experiments in different cell lines demonstrated that replication of the recombinant virus, HSV-GS3, is strictly dependent on an activating treatment consisting of administration of a supraphysiological heat dose in the presence of an antiprogestin. The replication-competent controlled virus replicates with an efficiency approaching that of the wild-type virus from which it was derived. Essentially no replication occurs in the absence of activating treatment or if HSV-GS3-infected cells are exposed only to heat or antiprogestin. These findings were corroborated by measurements of amounts of viral DNA and transcripts of the regulated ICP4 gene and the glycoprotein C (gC) late gene, which was not regulated. Similar findings were made in experiments with a mouse footpad infection model. The alphaherpesviruses have long been considered vectors for recombinant vaccines and oncolytic therapies. The traditional approach uses vector backbones containing attenuating mutations that restrict replication to ensure safety. The shortcoming of this approach is that the attenuating mutations tend to limit both the immune presentation and oncolytic properties of these vectors. HSV-GS3 represents a novel type of vector that, when activated, replicates with the efficiency of a nonattenuated virus and whose safety is derived from deliberate, stringent regulation of

  8. Effectiveness of strategies to increase the validity of findings from association studies: size vs. replication

    Directory of Open Access Journals (Sweden)

    Kallischnigg Gerd

    2010-05-01

    Full Text Available Abstract Background The capacity of multiple comparisons to produce false positive findings in genetic association studies is abundantly clear. To address this issue, the concept of false positive report probability (FPRP measures "the probability of no true association between a genetic variant and disease given a statistically significant finding". This concept involves the notion of prior probability of an association between a genetic variant and a disease, making it difficult to achieve acceptable levels for the FPRP when the prior probability is low. Increasing the sample size is of limited efficiency to improve the situation. Methods To further clarify this problem, the concept of true report probability (TRP is introduced by analogy to the positive predictive value (PPV of diagnostic testing. The approach is extended to consider the effects of replication studies. The formula for the TRP after k replication studies is mathematically derived and shown to be only dependent on prior probability, alpha, power, and number of replication studies. Results Case-control association studies are used to illustrate the TRP concept for replication strategies. Based on power considerations, a relationship is derived between TRP after k replication studies and sample size of each individual study. That relationship enables study designers optimization of study plans. Further, it is demonstrated that replication is efficient in increasing the TRP even in the case of low prior probability of an association and without requiring very large sample sizes for each individual study. Conclusions True report probability is a comprehensive and straightforward concept for assessing the validity of positive statistical testing results in association studies. By its extension to replication strategies it can be demonstrated in a transparent manner that replication is highly effective in distinguishing spurious from true associations. Based on the generalized TRP

  9. Food selectivity in autism spectrum disorders: A systematic review

    OpenAIRE

    Bauset, S.M. (Salvador M.); Zazpe, I. (Itziar); Mari-Sanchis, A. (Amelia); Llopis-Gonzalez, A. (Agustín); Suarez-Varela, M.M. (María M.)

    2014-01-01

    Autism spectrum disorders are characterized by difficulties with reciprocal social interactions and restricted patterns of behavior and interest; one of these characteristic behaviors is food selectivity. The objective of this study was to perform a systematic review of the literature published between 1970 and 2013 concerning this eating behavior. The articles identified were analyzed in terms of sample size, study design, and criteria for assessment and intervention, as well as the results,...

  10. Dietary docosahexaenoic acid supplementation in children with autism.

    Science.gov (United States)

    Voigt, Robert G; Mellon, Michael W; Katusic, Slavica K; Weaver, Amy L; Matern, Dietrich; Mellon, Bryan; Jensen, Craig L; Barbaresi, William J

    2014-06-01

    The aim of the study was to determine whether docosahexaenoic acid (DHA) supplementation improves the behavior of children with autism. A group of 3- to 10-year-old children with autism were randomized in a double-blind fashion to receive a supplement containing 200 mg of DHA or a placebo for 6 months. The parents and the investigator completed the Clinical Global Impressions-Improvement scale to rate changes in core symptoms of autism after 3 and 6 months. The parents completed the Child Development Inventory and the Aberrant Behavior Checklist, and both parents and teachers completed the Behavior Assessment Scale for Children (BASC) at enrollment and after 6 months. A total of 48 children (40 [83%] boys, mean age [standard deviation] 6.1 [2.0] years) were enrolled; 24 received DHA and 24 placebo. Despite a median 431% increase in total plasma DHA levels after 6 months, the DHA group was not rated as improved in core symptoms of autism compared to the placebo group on the CGI-I. Based on the analysis of covariance models adjusted for the baseline rating scores, parents (but not teachers) provided a higher average rating of social skills on the BASC for the children in the placebo group compared to the DHA group (P = 0.04), and teachers (but not parents) provided a higher average rating of functional communication on the BASC for the children in the DHA group compared to the placebo group (P = 0.02). Dietary DHA supplementation of 200 mg/day for 6 months does not improve the core symptoms of autism. Our results may have been limited by inadequate sample size.

  11. Prevalence of autism spectrum disorder and autistic symptoms in a school-based cohort of children in Kolkata, India.

    Science.gov (United States)

    Rudra, Alokananda; Belmonte, Matthew K; Soni, Parmeet Kaur; Banerjee, Saoni; Mukerji, Shaneel; Chakrabarti, Bhismadev

    2017-10-01

    Despite housing ∼18% of the world's population, India does not yet have an estimate of prevalence of autism. This study was carried out to estimate the prevalence of autism in a selected population of school-children in India. N = 11,849 children (mean age = 5.9 [SD = 1.3], 39.5% females) were selected from various school types from three boroughs in Kolkata, India. Parents/caregivers and teachers filled in the social and communication disorders checklist (SCDC). Children meeting cutoff on parent-reported SCDC were followed up with the social communication questionnaire (SCQ). SCQ-positive children were administered the autism diagnostic observation schedule (ADOS). Teacher report on SCDC was available on all 11,849 children. Parent-report SCDC scores were obtained for 5,947 children. Mean scores on teacher SCDC were significantly lower than parent SCDC. Out of 1,247 SCDC-positive children, 882 answered the SCQ, of whom 124 met the cutoff score of 15. Six of these children met criteria for autism, autism spectrum disorder (ASD), or broader autism spectrum on the ADOS. The weighted estimate of supra-threshold SCQ scores was 3.54% (CI: 2.88-4.3%). The weighted prevalence estimate of positive scores (for broader autism spectrum + ASD + autism) was 0.23% (0.07-0.46%). As ∼20% children in this state are known to be out of the school system, and ASD prevalence is likely to be higher in this group, this estimate is likely to represent the lower-bound of the true prevalence. This study provides preliminary data on the prevalence of broader-spectrum autism and supra-threshold autistic traits in a population sample of school children in Eastern India. Autism Res 2017, 10: 1597-1605. ©2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research. © 2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

  12. dbMDEGA: a database for meta-analysis of differentially expressed genes in autism spectrum disorder.

    Science.gov (United States)

    Zhang, Shuyun; Deng, Libin; Jia, Qiyue; Huang, Shaoting; Gu, Junwang; Zhou, Fankun; Gao, Meng; Sun, Xinyi; Feng, Chang; Fan, Guangqin

    2017-11-16

    Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed. Here, we conducted a meta-analysis of brain gene expression profiles in the current reported human ASD expression datasets (with 84 frozen male cortex samples, 17 female cortex samples, 32 cerebellum samples and 4 formalin fixed samples) and knock-out mouse ASD model expression datasets (with 80 collective brain samples). Then, we applied R language software and developed an interactive shared and updated database (dbMDEGA) displaying the results of meta-analysis of data from ASD studies regarding differentially expressed genes (DEGs) in the brain. This database, dbMDEGA ( https://dbmdega.shinyapps.io/dbMDEGA/ ), is a publicly available web-portal for manual annotation and visualization of DEGs in the brain from data from ASD studies. This database uniquely presents meta-analysis values and homologous forest plots of DEGs in brain tissues. Gene entries are annotated with meta-values, statistical values and forest plots of DEGs in brain samples. This database aims to provide searchable meta-analysis results based on the current reported brain gene expression datasets of ASD to help detect candidate genes underlying this disorder. This new analytical tool may provide valuable assistance in the discovery of DEGs and the elucidation of the molecular pathogenicity of ASD. This database model may be replicated to study other disorders.

  13. LHCb Data Replication During SC3

    CERN Multimedia

    Smith, A

    2006-01-01

    LHCb's participation in LCG's Service Challenge 3 involves testing the bulk data transfer infrastructure developed to allow high bandwidth distribution of data across the grid in accordance with the computing model. To enable reliable bulk replication of data, LHCb's DIRAC system has been integrated with gLite's File Transfer Service middleware component to make use of dedicated network links between LHCb computing centres. DIRAC's Data Management tools previously allowed the replication, registration and deletion of files on the grid. For SC3 supplementary functionality has been added to allow bulk replication of data (using FTS) and efficient mass registration to the LFC replica catalog.Provisional performance results have shown that the system developed can meet the expected data replication rate required by the computing model in 2007. This paper details the experience and results of integration and utilisation of DIRAC with the SC3 transfer machinery.

  14. 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......In recent years polymer components with surface microstructures have been in rising demand for applications such as lab-on-a-chip and optical components. Injection moulding has proven to be a feasible and efficient way to manufacture such components. In injection moulding the mould surface...... 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...

  15. Lipid Tales of Viral Replication and Transmission.

    Science.gov (United States)

    Altan-Bonnet, Nihal

    2017-03-01

    Positive-strand RNA viruses are the largest group of RNA viruses on Earth and cellular membranes are critical for all aspects of their life cycle, from entry and replication to exit. In particular, membranes serve as platforms for replication and as carriers to transmit these viruses to other cells, the latter either as an envelope surrounding a single virus or as the vesicle containing a population of viruses. Notably, many animal and human viruses appear to induce and exploit phosphatidylinositol 4-phosphate/cholesterol-enriched membranes for replication, whereas many plant and insect-vectored animal viruses utilize phosphatidylethanolamine/cholesterol-enriched membranes for the same purpose; and phosphatidylserine-enriched membrane carriers are widely used by both single and populations of viruses for transmission. Here I discuss the implications for viral pathogenesis and therapeutic development of this remarkable convergence on specific membrane lipid blueprints for replication and transmission. Published by Elsevier Ltd.

  16. Surface Micro Topography Replication in Injection Moulding

    DEFF Research Database (Denmark)

    Arlø, Uffe Rolf; Hansen, Hans Nørgaard; Kjær, Erik Michael

    2005-01-01

    carried out with rough EDM (electrical discharge machining) mould surfaces, a PS grade, and by applying established three-dimensional topography parameters. Significant quantitative relationships between process parameters and topography parameters were established. It further appeared that replication...

  17. Molecular Mechanisms of DNA Replication Checkpoint Activation

    Directory of Open Access Journals (Sweden)

    Bénédicte Recolin

    2014-03-01

    Full Text Available The major challenge of the cell cycle is to deliver an intact, and fully duplicated, genetic material to the daughter cells. To this end, progression of DNA synthesis is monitored by a feedback mechanism known as replication checkpoint that is untimely linked to DNA replication. This signaling pathway ensures coordination of DNA synthesis with cell cycle progression. Failure to activate this checkpoint in response to perturbation of DNA synthesis (replication stress results in forced cell division leading to chromosome fragmentation, aneuploidy, and genomic instability. In this review, we will describe current knowledge of the molecular determinants of the DNA replication checkpoint in eukaryotic cells and discuss a model of activation of this signaling pathway crucial for maintenance of genomic stability.

  18. Biological Motion Perception in Autism

    Directory of Open Access Journals (Sweden)

    J Cusack

    2011-04-01

    Full Text Available Typically developing adults can readily recognize human actions, even when conveyed to them via point-like markers placed on the body of the actor (Johansson, 1973. Previous research has suggested that children affected by autism spectrum disorder (ASD are not equally sensitive to this type of visual information (Blake et al, 2003, but it remains unknown why ASD would impact the ability to perceive biological motion. We present evidence which looks at how adolescents and adults with autism are affected by specific factors which are important in biological motion perception, such as (eg, inter-agent synchronicity, upright/inverted, etc.

  19. Clinical neurogenetics: autism spectrum disorders.

    Science.gov (United States)

    Mehta, Sunil Q; Golshani, Peyman

    2013-11-01

    Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social interactions, communication, and repetitive or restricted interests. There is strong evidence that de novo or inherited genetic alterations play a critical role in causing Autism Spectrum Disorders, but non-genetic causes, such as in utero infections, may also play a role. Magnetic resonance imaging based and autopsy studies indicate that early rapid increase in brain size during infancy could underlie the deficits in a large subset of subjects. Clinical studies show benefits for both behavioral and pharmacological treatment strategies. Genotype-specific treatments have the potential for improving outcome in the future. Published by Elsevier Inc.

  20. Autism: tactile perception and emotion.

    Science.gov (United States)

    Pernon, E; Pry, R; Baghdadli, A

    2007-08-01

    For many years, and especially since Waynbaum and Wallon, psychology and psychopathology have dealt with cognitive perception, but have had little to do with the affective qualities of perception. Our aim was to study the influence of the sensory environment on people with autism. Several experiments were carried out using different forms of tactile stimulation (passive and active subjects). Our data showed specific responses in children with autism and intellectual disability. These children displayed a strong (positive) valence to the stimulation provided. They were very attracted to the stimulation and were excited by it.

  1. Autism Spectrum Disorders in Iran

    OpenAIRE

    Mohammad Reza MOHAMMADI; Maryam SALMANIAN; Shahin AKHONDZADEH

    2011-01-01

    How to Cite this Article: Mohammadi MR, Salmanian M, Akhondzadeh Sh. Autism Spectrum Disorders in Iran. Iranian Journal of Child Neurology2011;5(4):1-9.ObjectiveAutistic disorder, Asperger syndrome, and PDD-Not Otherwise Specified are subsets of autism spectrum disorders (ASDs), which are characterized by impairments in social communication and stereotyped behavior. This article reviews the prevalence, etiology, diagnosis, and treatment of ASDs in Iran.Materials & MethodsWe searched PubMe...

  2. Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA

    Directory of Open Access Journals (Sweden)

    Freedman Jane

    2009-03-01

    Full Text Available Abstract Background The temporal order of allelic replication is interrelated to the epigenomic profile. A significant epigenetic marker is the asynchronous replication of monoallelically-expressed genes versus the synchronous replication of biallelically-expressed genes. The present study sought to determine whether a microdeletion in the genome affects epigenetic profiles of genes unrelated to the missing segment. In order to test this hypothesis, we checked the replication patterns of two genes – SNRPN, a normally monoallelically expressed gene (assigned to 15q11.13, and the RB1, an archetypic biallelically expressed gene (assigned to 13.q14 in the genomes of patients carrying the 22q11.2 deletion (DiGeorge/Velocardiofacial syndrome and those carrying the 7q11.23 deletion (Williams syndrome. Results The allelic replication timing was determined by fluorescence in situ hybridization (FISH technology performed on peripheral blood cells. As expected, in the cells of normal subjects the frequency of cells showing asynchronous replication for SNRPN was significantly (P -12 higher than the corresponding value for RB1. In contrast, cells of the deletion-carrying patients exhibited a reversal in this replication pattern: there was a significantly lower frequency of cells engaging in asynchronous replication for SNRPN than for RB1 (P -4 and P -3 for DiGeorge/Velocardiofacial and Williams syndromes, respectively. Accordingly, the significantly lower frequency of cells showing asynchronous replication for SNRPN than for RB1 is a new epigenetic marker distinguishing these deletion syndrome genotypes from normal ones. Conclusion In cell samples of each deletion-carrying individual, an aberrant, reversed pattern of replication is delineated, namely, where a monoallelic gene replicates more synchronously than a biallelic gene. This inverted pattern, which appears to be non-deletion-specific, clearly distinguishes cells of deletion-carriers from normal

  3. Replication and Analysis of Ebbinghaus? Forgetting Curve

    OpenAIRE

    Murre, Jaap M. J.; Dros, Joeri

    2015-01-01

    We present a successful replication of Ebbinghaus’ classic forgetting curve from 1880 based on the method of savings. One subject spent 70 hours learning lists and relearning them after 20 min, 1 hour, 9 hours, 1 day, 2 days, or 31 days. The results are similar to Ebbinghaus' original data. We analyze the effects of serial position on forgetting and investigate what mathematical equations present a good fit to the Ebbinghaus forgetting curve and its replications. We conclude that the Ebbingha...

  4. Evolution of Database Replication Technologies for WLCG

    OpenAIRE

    Baranowski, Zbigniew; Pardavila, Lorena Lobato; Blaszczyk, Marcin; Dimitrov, Gancho; Canali, Luca

    2015-01-01

    In this article we summarize several years of experience on database replication technologies used at WLCG and we provide a short review of the available Oracle technologies and their key characteristics. One of the notable changes and improvement in this area in recent past has been the introduction of Oracle GoldenGate as a replacement of Oracle Streams. We report in this article on the preparation and later upgrades for remote replication done in collaboration with ATLAS and Tier 1 databas...

  5. The Legal Road To Replicating Silicon Valley

    OpenAIRE

    John Armour; Douglas Cumming

    2004-01-01

    Must policymakers seeking to replicate the success of Silicon Valley’s venture capital market first replicate other US institutions, such as deep and liquid stock markets? Or can legal reforms alone make a significant difference? In this paper, we compare the economic and legal determinants of venture capital investment, fundraising and exits. We introduce a cross-sectional and time series empirical analysis across 15 countries and 13 years of data spanning an entire business cycle. We show t...

  6. Commercial Building Partnerships Replication and Diffusion

    Energy Technology Data Exchange (ETDEWEB)

    Antonopoulos, Chrissi A.; Dillon, Heather E.; Baechler, Michael C.

    2013-09-16

    This study presents findings from survey and interview data investigating replication efforts of Commercial Building Partnership (CBP) partners that worked directly with the Pacific Northwest National Laboratory (PNNL). PNNL partnered directly with 12 organizations on new and retrofit construction projects, which represented approximately 28 percent of the entire U.S. Department of Energy (DOE) CBP program. Through a feedback survey mechanism, along with personal interviews, PNNL gathered quantitative and qualitative data relating to replication efforts by each organization. These data were analyzed to provide insight into two primary research areas: 1) CBP partners’ replication efforts of technologies and approaches used in the CBP project to the rest of the organization’s building portfolio (including replication verification), and, 2) the market potential for technology diffusion into the total U.S. commercial building stock, as a direct result of the CBP program. The first area of this research focused specifically on replication efforts underway or planned by each CBP program participant. Factors that impact replication include motivation, organizational structure and objectives firms have for implementation of energy efficient technologies. Comparing these factors between different CBP partners revealed patterns in motivation for constructing energy efficient buildings, along with better insight into market trends for green building practices. The second area of this research develops a diffusion of innovations model to analyze potential broad market impacts of the CBP program on the commercial building industry in the United States.

  7. Immunization uptake in younger siblings of children with autism spectrum disorder.

    Science.gov (United States)

    Abu Kuwaik, Ghassan; Roberts, Wendy; Zwaigenbaum, Lonnie; Bryson, Susan; Smith, Isabel M; Szatmari, Peter; Modi, Bonnie M; Tanel, Nadia; Brian, Jessica

    2014-02-01

    Parental concerns persist that immunization increases the risk of autism spectrum disorder, resulting in the potential for reduced uptake by parents of younger siblings of children with autism spectrum disorder ("younger sibs"). To compare immunization uptake by parents for their younger child relative to their older child with autism spectrum disorder ("proband") and controls. Immunization status was obtained for 98 "younger sibs," 98 "probands," and 65 controls. A significant group difference emerged for overall immunization status (Fisher's exact test = 62.70, p immunizations in 59/98 younger sibs were delayed (47/98; 48%) or declined (12/98; 12.2%); immunizations were delayed in 16/98 probands (16.3%) and declined in only one. All controls were fully immunized, with only 6 (9.2%) delayed. Within the "younger sibs" group, 25/98 received an autism spectrum disorder diagnosis; 7 of whom (28%) were fully immunized. The rates of autism spectrum disorder diagnosis did not differ between immunized and nonimmunized younger sib groups, although small sample size limits interpretability of this result. Parents who already have one child with autism spectrum disorder may delay or decline immunization for their younger children, potentially placing them at increased risk of preventable infectious diseases.

  8. Trajectories and correlates of special education supports for youth with autism spectrum disorder and psychiatric comparisons.

    Science.gov (United States)

    Spaulding, Christine J; Lerner, Matthew D; Gadow, Kenneth D

    2017-05-01

    Relatively little is known about patterns of school-based supportive services for youth with autism spectrum disorder. This study describes these supportive services and their correlates, both cross-sectionally and retrospectively, in a large sample ( N = 283) of 6- to 18- year-old youth. To assess whether special education designation and classroom placement patterns were peculiar to autism spectrum disorder, we also conducted analyses comparing youth with autism spectrum disorder to those with other psychiatric diagnoses ( N = 1088). In higher grades, the relative quantity of three common supportive services received by youth with autism spectrum disorder decreased, while total supportive service quantity remained stable over time. Youth with autism spectrum disorder were more likely to receive a special education designation and were placed in less inclusive classroom settings than youth with other psychiatric diagnoses. These findings suggest that as youth with autism spectrum disorder reach higher grades, changes in service provision occur in terms of both time and quantity.

  9. APPLIED BEHAVIOUR ANALYZE METHOD INCREASE SOCIAL INTERACTION CHILDREN WITH AUTISME, 2-5 YEARS OLD

    Directory of Open Access Journals (Sweden)

    Khoridatul Bahiyah

    2017-07-01

    Full Text Available Introduction: Autism is social interaction disorder in children. They were seemingly living in their own world. ABA method was a technique to decrease behaviour disorder or social interaction in autism children. The aimed of this research was to evaluate correlation between ABA method implementation and parents role with social interaction development in children with autism. Method: This research was used a cross sectional with purposive sampling. There  were 22 respondents who met to the inclusion criteria. The independent variable was ABA methode and the dependent variable was social interaction development. Data were collected by using questionnaire and observation, then analyzed by using Spearman Rho Correlation with significance level α≤0.05. Result: The result showed that there was a correlation between ABA method and social interaction development in autism children with p<0.30. Discussion: It can be concluded that ABA method has a correlation with social interaction in autism children. It is recommended that ABA method can be used as a technique to decrease social interaction disorder on autism children.

  10. MYmind: Mindfulness training for Youngsters with autism spectrum disorders and their parents.

    Science.gov (United States)

    de Bruin, Esther I; Blom, René; Smit, Franka Ma; van Steensel, Francisca Ja; Bögels, Susan M

    2015-11-01

    Despite the dramatic increase in autism spectrum disorder in youth and the extremely high costs, hardly any evidence-based interventions are available. The aim of this study is to examine the effects of mindfulness training for adolescents with autism spectrum disorder, combined with Mindful Parenting training. A total of 23 adolescents with autism spectrum disorder, referred to a mental health clinic, received nine weekly sessions of mindfulness training in group format. Their parents (18 mothers, 11 fathers) participated in parallel Mindful Parenting training. A pre-test, post-test, and 9-week follow-up design was used. Data were analyzed using multi-level analyses. Attendance rate was 88% for adolescents and fathers and 86% for mothers. Adolescents reported an increase in quality of life and a decrease in rumination, but no changes in worry, autism spectrum disorder core symptoms, or mindful awareness. Although parents reported no change in adolescent's autism spectrum disorder core symptoms, they reported improved social responsiveness, social communication, social cognition, preoccupations, and social motivation. About themselves, parents reported improvement in general as well as in parental mindfulness. They reported improved competence in parenting, overall parenting styles, more specifically a less lax, verbose parenting style, and an increased quality of life. Mindfulness training for adolescents with autism spectrum disorder combined with Mindful Parenting is feasible. Although the sample size was small and no control group was included, the first outcomes of this innovative training are positive. © The Author(s) 2014.

  11. Health-related quality of life in children with high-functioning autism.

    Science.gov (United States)

    Potvin, Marie-Christine; Snider, Laurie; Prelock, Patricia A; Wood-Dauphinee, Sharon; Kehayia, Eva

    2015-01-01

    The health-related quality of life of school-aged children with high-functioning autism is poorly understood. The objectives of this study were to compare the health-related quality of life of children with high-functioning autism to that of typically developing peers and to compare child-self and parent-proxy reports of health-related quality of life of children. A cross-sectional study of children with high-functioning autism (n = 30) and peers (n = 31) was conducted using the Pediatric Quality of Life Inventory 4.0 Generic Core Scales. Children with high-functioning autism had significantly poorer health-related quality of life than peers whether reported by themselves (p autism as compared to a sample of peers, from the child's perspective. It strengthens earlier findings that children with high-functioning autism experience poorer health-related quality of life than those without this disorder and points to the importance of clinicians working with families to identify areas in a child's life that promote or hinder their sense of well-being. © The Author(s) 2013.

  12. 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

    2017-08-01

    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 aged 2.5-10 years. Based on information from the short version of the Developmental, Dimensional and Diagnostic Interview and the Autism Diagnostic Observation Schedule, 130 children (106 boys and 24 girls) received a diagnosis of autism spectrum disorder according to Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.) criteria and 101 children (61 boys and 40 girls) did not. Higher overall levels of parent-reported repetitive and restricted behavior symptoms were less predictive of an autism spectrum disorder diagnosis in girls than in boys (odds ratio interaction = 0.41, 95% confidence interval = 0.18-0.92, p = 0.03). In contrast, higher overall levels of parent-reported emotional and behavioral problems increased the probability of an autism spectrum disorder diagnosis more in girls than in boys (odds ratio interaction = 2.44, 95% confidence interval = 1.13-5.29, p = 0.02). No differences were found between girls and boys in the prediction of an autism spectrum disorder diagnosis by overall autistic impairment, sensory symptoms, and cognitive functioning. These findings provide insight into possible explanations for the assumed underidentification of autism spectrum disorder in girls in the clinic.

  13. Nice Doggie! Contact Desensitization Plus Reinforcement Decreases Dog Phobias for Children with Autism.

    Science.gov (United States)

    Tyner, Shannon; Brewer, Adam; Helman, Meghan; Leon, Yanerys; Pritchard, Joshua; Schlund, Michael

    2016-03-01

    Dog phobias are common in individuals with autism; however, evidence supporting behavioral interventions is limited. The current study evaluated the efficacy of contact desensitization plus reinforcement on dog phobic behavior exhibited by three children diagnosed with autism. The treatment package improved contact with dogs in analog and naturalistic settings and the improvements were maintained at follow-up and in generalization tests. Parents/caregivers also provided high consumer satisfaction reports.Approximately 30 % of individuals diagnosed with autism also receive a comorbid diagnosis of a clinical phobia.Research has shown that behavioral treatment for dog phobias in individuals with intellectual disabilities is contact desensitization plus reinforcement using two hierarchies: size of the dog and distance to the dog; no escape extinction was necessary.The current systematic replication shows that this treatment package was effective for children with autism using only a single hierarchy composed of distance to the dog.Future practitioners may wish to examine whether this treatment package also produces changes in supplemental physiological measures such as pupil dilation, heart rate, galvanic skin responses, and respiration.

  14. Replication Rate, Framing, and Format Affect Attitudes and Decisions about Science Claims

    Science.gov (United States)

    Barnes, Ralph M.; Tobin, Stephanie J.; Johnston, Heather M.; MacKenzie, Noah; Taglang, Chelsea M.

    2016-01-01

    A series of five experiments examined how the evaluation of a scientific finding was influenced by information about the number of studies that had successfully replicated the initial finding. The experiments also tested the impact of frame (negative, positive) and numeric format (percentage, natural frequency) on the evaluation of scientific findings. In Experiments 1 through 4, an attitude difference score served as the dependent measure, while a measure of choice served as the dependent measure in Experiment 5. Results from a diverse sample of 188 non-institutionalized U.S. adults (Experiment 2) and 730 undergraduate college students (Experiments 1, 3, and 4) indicated that attitudes became more positive as the replication rate increased and attitudes were more positive when the replication information was framed positively. The results also indicate that the manner in which replication rate was framed had a greater impact on attitude than the replication rate itself. The large effect for frame was attenuated somewhat when information about replication was presented in the form of natural frequencies rather than percentages. A fifth study employing 662 undergraduate college students in a task in which choice served as the dependent measure confirmed the framing effect and replicated the replication rate effect in the positive frame condition, but provided no evidence that the use of natural frequencies diminished the effect. PMID:27920743

  15. Human Parvovirus B19 Utilizes Cellular DNA Replication Machinery for Viral DNA Replication.

    Science.gov (United States)

    Zou, Wei; Wang, Zekun; Xiong, Min; Chen, Aaron Yun; Xu, Peng; Ganaie, Safder S; Badawi, Yomna; Kleiboeker, Steve; Nishimune, Hiroshi; Ye, Shui Qing; Qiu, Jianming

    2018-03-01

    Human parvovirus B19 (B19V) infection of human erythroid progenitor cells (EPCs) induces a DNA damage response and cell cycle arrest at late S phase, which facilitates viral DNA replication. However, it is not clear exactly which cellular factors are employed by this single-stranded DNA virus. Here, we used microarrays to systematically analyze the dynamic transcriptome of EPCs infected with B19V. We found that DNA metabolism, DNA replication, DNA repair, DNA damage response, cell cycle, and cell cycle arrest pathways were significantly regulated after B19V infection. Confocal microscopy analyses revealed that most cellular DNA replication proteins were recruited to the centers of viral DNA replication, but not the DNA repair DNA polymerases. Our results suggest that DNA replication polymerase δ and polymerase α are responsible for B19V DNA replication by knocking down its expression in EPCs. We further showed that although RPA32 is essential for B19V DNA replication and the phosphorylated forms of RPA32 colocalized with the replicating viral genomes, RPA32 phosphorylation was not necessary for B19V DNA replication. Thus, this report provides evidence that B19V uses the cellular DNA replication machinery for viral DNA replication. IMPORTANCE Human parvovirus B19 (B19V) infection can cause transient aplastic crisis, persistent viremia, and pure red cell aplasia. In fetuses, B19V infection can result in nonimmune hydrops fetalis and fetal death. These clinical manifestations of B19V infection are a direct outcome of the death of human erythroid progenitors that host B19V replication. B19V infection induces a DNA damage response that is important for cell cycle arrest at late S phase. Here, we analyzed dynamic changes in cellular gene expression and found that DNA metabolic processes are tightly regulated during B19V infection. Although genes involved in cellular DNA replication were downregulated overall, the cellular DNA replication machinery was tightly

  16. Statistical correction of the Winner's Curse explains replication variability in quantitative trait genome-wide association studies.

    Directory of Open Access Journals (Sweden)

    Cameron Palmer

    2017-07-01

    Full Text Available Genome-wide association studies (GWAS have identified hundreds of SNPs responsible for variation in human quantitative traits. However, genome-wide-significant associations often fail to replicate across independent cohorts, in apparent inconsistency with their apparent strong effects in discovery cohorts. This limited success of replication raises pervasive questions about the utility of the GWAS field. We identify all 332 studies of quantitative traits from the NHGRI-EBI GWAS Database with attempted replication. We find that the majority of studies provide insufficient data to evaluate replication rates. The remaining papers replicate significantly worse than expected (p < 10-14, even when adjusting for regression-to-the-mean of effect size between discovery- and replication-cohorts termed the Winner's Curse (p < 10-16. We show this is due in part to misreporting replication cohort-size as a maximum number, rather than per-locus one. In 39 studies accurately reporting per-locus cohort-size for attempted replication of 707 loci in samples with similar ancestry, replication rate matched expectation (predicted 458, observed 457, p = 0.94. In contrast, ancestry differences between replication and discovery (13 studies, 385 loci cause the most highly-powered decile of loci to replicate worse than expected, due to difference in linkage disequilibrium.

  17. Autism counts. Stereological studies on human postmortem brains and a mouse model for autism

    NARCIS (Netherlands)

    van Kooten, I.A.J.

    2008-01-01

    Autism is a neurodevelopmental disorder with a strong genetic component and several known environmental risk factors. Classical neuropathology studies have reported consistent findings in the limbic system, cerebellum and cerebral cortex of patients with autism. However, the neurobiological

  18. What is this thing called autism? A critical analysis of the tenacious search for autism's essence

    NARCIS (Netherlands)

    Verhoeff, Berend

    2012-01-01

    Currently, autism is a widespread and diverse neurodevelopmental disorder that includes both severely impaired and institutionalized patients and the fairly geeky but brilliant university professor. Despite its heterogeneity, autism is often presented as a distinct nosological entity with a unifying

  19. Use of complementary and alternative medicine in children with autism and other developmental disabilities: associations with ethnicity, child comorbid symptoms, and parental stress.

    Science.gov (United States)

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

    2014-03-01

    The use of complementary and alternative medicine by children with autism and the association of its use with child comorbid symptoms and parental stress was studied in an ethnically diverse population, in a cross-sectional study with structured interviews. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included the Complementary and Alternative Medicine Questionnaire, Gastrointestinal Questionnaire, Children's Sleep Habits Questionnaire, Aberrant Behavior Checklist, and Parenting Stress Index. In this ethnically diverse sample, the use of complementary and alternative medicine was significantly higher for the autism group. In the autism group, use was significantly related to child's irritability, hyperactivity, food allergies, and parental stress; in the developmental disabilities group, there was no association with child comorbid symptoms or parental stress. The results contribute information to health care providers about families of children with autism who are more likely to use complementary and alternative medicine.

  20. The structure and function of replication protein A in DNA replication.

    Science.gov (United States)

    Prakash, Aishwarya; Borgstahl, Gloria E O

    2012-01-01

    In all organisms from bacteria and archaea to eukarya, single-stranded DNA binding proteins play an essential role in most, if not all, nuclear metabolism involving single-stranded DNA (ssDNA). Replication protein A (RPA), the major eukaryotic ssDNA binding protein, has two important roles in DNA metabolism: (1) in binding ssDNA to protect it and to keep it unfolded, and (2) in coordinating the assembly and disassembly of numerous proteins and protein complexes during processes such as DNA replication. Since its discovery as a vital player in the process of replication, RPAs roles in recombination and DNA repair quickly became evident. This chapter summarizes the current understanding of RPA's roles in replication by reviewing the available structural data, DNA-binding properties, interactions with various replication proteins, and interactions with DNA repair proteins when DNA replication is stalled.

  1. Psychotherapy for Anxiety in Children With Autism Spectrum Disorder

    Science.gov (United States)

    2017-11-30

    Autism Spectrum Disorders; Autism; Asperger's Syndrome; Pervasive Developmental Disability - Not Otherwise Specified; Obsessive-compulsive Disorder; Social Phobia; Generalized Anxiety Disorder; Specific Phobia; Separation Anxiety Disorder

  2. [Estimated prevalence of autism spectrum disorders in the Canary Islands].

    Science.gov (United States)

    Fortea Sevilla, M S; Escandell Bermúdez, M O; Castro Sánchez, J J

    2013-12-01

    To make an initial estimate of the prevalence of autism spectrum disorders (ASDs) among children in the province of Las Palmas (Spain). Descriptive study was conducted on 1,796 children between the ages of 18 and 30 months of age, all part of the Child Health Surveillance of the Canary Islands, more specifically the province of Las Palmas, with a population of 1,090,605. The parents of children involved completed the Spanish version of the Modified Checklist for Autism in Toddlers (M-CHAT/ES) in the paediatric clinic. The positive cases were then diagnosed by experts by means of the Autism Diagnostic Interview-Revised (ADIR) and the Autism Diagnostic Observation Schedule (ADOS). A 0.61% prevalence of ASDs was determined, similar to that reported in previous studies using the same tools. The ratio was six girls for every five boys. This was contrary to the results of previous studies which suggested more boys than girls were affected. This may have been due to the sample size, which will have to be increased in future studies to confirm this outcome. An increased sample size and also spread to other age ranges should be used in order to obtain a more reliable estimate of prevalence. As regards the gender ratio, this could be a result of the small size of the sample researched, and should therefore be confirmed by further studies. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  3. Dynamics of Escherichia coli Chromosome Segregation during Multifork Replication

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck; Youngren, Brenda; Hansen, Flemming G.

    2007-01-01

    Slowly growing Escherichia coli cells have a simple cell cycle, with replication and progressive segregation of the chromosome completed before cell division. In rapidly growing cells, initiation of replication occurs before the previous replication rounds are complete. At cell division...

  4. AuPairWise: A Method to Estimate RNA-Seq Replicability through Co-expression.

    Directory of Open Access Journals (Sweden)

    Sara Ballouz

    2016-04-01

    Full Text Available In addition to detecting novel transcripts and higher dynamic range, a principal claim for RNA-sequencing has been greater replicability, typically measured in sample-sample correlations of gene expression levels. Through a re-analysis of ENCODE data, we show that replicability of transcript abundances will provide misleading estimates of the replicability of conditional variation in transcript abundances (i.e., most expression experiments. Heuristics which implicitly address this problem have emerged in quality control measures to obtain 'good' differential expression results. However, these methods involve strict filters such as discarding low expressing genes or using technical replicates to remove discordant transcripts, and are costly or simply ad hoc. As an alternative, we model gene-level replicability of differential activity using co-expressing genes. We find that sets of housekeeping interactions provide a sensitive means of estimating the replicability of expression changes, where the co-expressing pair can be regarded as pseudo-replicates of one another. We model the effects of noise that perturbs a gene's expression within its usual distribution of values and show that perturbing expression by only 5% within that range is readily detectable (AUROC~0.73. We have made our method available as a set of easily implemented R scripts.

  5. Sensory Features of Toddlers at Risk for Autism Spectrum Disorder.

    Science.gov (United States)

    Philpott-Robinson, Kelsey; Lane, Alison E; Harpster, Karen

    2016-01-01

    We observed sensory features in toddlers ages 12-24 mo with risk factors for autism spectrum disorder (ASD) and explored their relationship to general development and early signs of ASD. Participants (N = 46) included toddlers with higher risk for ASD. All participants were administered standardized assessments of sensory features, early signs of ASD, and general development at a single study visit. Sensory features in toddlers were characterized as either adaptive or reactive. Toddlers with more difficulties in oral sensory processing displayed more early signs of ASD. Typical oral and auditory processing were associated with higher cognitive function, and toddlers with fewer sensory features overall had more mature language skills. Specific sensory features were associated with both early signs of ASD and less mature general development. Replication of this preliminary study is required. Copyright © 2016 by the American Occupational Therapy Association, Inc.

  6. National Database for Autism Research (NDAR): Big Data Opportunities for Health Services Research and Health Technology Assessment.

    Science.gov (United States)

    Payakachat, Nalin; Tilford, J Mick; Ungar, Wendy J

    2016-02-01

    The National Database for Autism Research (NDAR) is a US National Institutes of Health (NIH)-funded research data repository created by integrating heterogeneous datasets through data sharing agreements between autism researchers and the NIH. To date, NDAR is considered the largest neuroscience and genomic data repository for autism research. In addition to biomedical data, NDAR contains a large collection of clinical and behavioral assessments and health outcomes from novel interventions. Importantly, NDAR has a global unique patient identifier that can be linked to aggregated individual-level data for hypothesis generation and testing, and for replicating research findings. As such, NDAR promotes collaboration and maximizes public investment in the original data collection. As screening and diagnostic technologies as well as interventions for children with autism are expensive, health services research (HSR) and health technology assessment (HTA) are needed to generate more evidence to facilitate implementation when warranted. This article describes NDAR and explains its value to health services researchers and decision scientists interested in autism and other mental health conditions. We provide a description of the scope and structure of NDAR and illustrate how data are likely to grow over time and become available for HSR and HTA.

  7. Child with autism in inclusive educational setting

    Directory of Open Access Journals (Sweden)

    Tomić Katarina N.

    2014-01-01

    Full Text Available The paper examines the possibility of including children with autistic spectrum disorders in mainstream groups in kindergartens, but from the perspective of preschool educators in inclusive educational groups, examining their attitudes to the problem concerned, and knowledge of the basic aspects of the disorder and effective methodological solutions, which were used in their work. The research conducted in Preschool institution 'Nata Veljkovic' in Krusevac, on a sample of 36 preschool teachers selected randomly, with the request to have more than five years of working experience, has shown that most teachers expressed concern and fear of the inclusion of children with autism and that there was a need for additional education in the field of developmental disabilities, that would make them better equipped to work and give them more confidence.

  8. Autism Spectrum Disorder - Multiple Languages

    Science.gov (United States)

    ... Spectrum Disorder (An Introduction) - English MP4 Autism Spectrum Disorder (An Introduction) - español (Spanish) MP4 Healthy Roads Media Characters not displaying correctly on this page? See language display issues . Return to the MedlinePlus Health Information ...

  9. Evaluating Parental Autism Disclosure Strategies

    Science.gov (United States)

    Austin, Jillian E.; Galijot, Ratka; Davies, W. Hobart

    2018-01-01

    The relative effects of different autism disclosure methods on the perceptions of a mother-child dyad were investigated. Using three conditions, disclosure card, disclosure bracelet, and no disclosure, U.S. community parents (N = 383) were asked 18 questions about their perceptions of the dyad. An ANOVA revealed significant protection from stigma…

  10. Risperidone and Explosive Aggressive Autism.

    Science.gov (United States)

    Horrigan, Joseph P.; Barnhill, L. Jarrett

    1997-01-01

    In this study, 11 males with autism and mental retardation were administered risperidone. Substantial clinical improvement was noted almost immediately; patients with aggression, self-injury, explosivity, and poor sleep hygiene were most improved. The modal dose for optimal response was 0.5 mg bid. Weight gain was a significant side effect.…

  11. Autism: Tactile Perception and Emotion

    Science.gov (United States)

    Pernon, E.; Pry, R.; Baghdadli, A.

    2007-01-01

    Background: For many years, and especially since Waynbaum and Wallon, psychology and psychopathology have dealt with cognitive perception, but have had little to do with the affective qualities of perception. Our aim was to study the influence of the sensory environment on people with autism. Method: Several experiments were carried out using…

  12. Metamemory in children with autism.

    Science.gov (United States)

    Farrant, A; Boucher, J; Blades, M

    1999-01-01

    Five experiments are reported comparing metamemory abilities in children with autism, age- and language-matched mentally retarded children, and language-matched young normal controls. The mean language age of the participants in Experiment 1 was approximately 6 years, in Experiments 2, 3, and 4 approximately 8 years, and in Experiment 5 approximately 9 years. All the children were given one or more false belief tests. Experiment 1 assessed the children's understanding that a task variable (list length) and a person variable (age) will affect their own and others' performances on an immediate auditory-verbal recall task. Experiment 2 assessed the ability to utilize category cues in a picture recall task. Experiments 3 and 4 assessed the ability to verbalize strategies used in a memory span test and in one retrospective and two prospective memory situations. Experiment 5 assessed the children's knowledge and understanding of another person's memory. On the basis of available evidence and theory, we predicted that the children with autism would be impaired on all the metamemory tasks and that impairment would be associated with failure on tests of false belief. Our predictions were not supported. The children with autism were not impaired on any of the metamemory tasks, although they were less likely than controls to make spontaneous use of memory strategies involving other people. Unexpectedly few of the children failed the false belief tasks. These results are discussed in relation to theories concerning primary psychological deficits underlying autism.

  13. Neurofeedback in Autism Spectrum Disorders

    Science.gov (United States)

    Holtmann, Martin; Steiner, Sabina; Hohmann, Sarah; Poustka, Luise; Banaschewski, Tobias; Bolte, Sven

    2011-01-01

    Aim: To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD). Method: Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: "Neurofeedback" OR "EEG Biofeedback" OR "Neurotherapy"…

  14. Autism Spectrum Disorders and Epigenetics

    Science.gov (United States)

    Grafodatskaya, Daria; Chung, Brian; Szatmari, Peter; Weksberg, Rosanna

    2010-01-01

    Objective: Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate…

  15. Mercury and Autism: A Review

    Science.gov (United States)

    Zhang, Jie; Wheeler, John J.

    2010-01-01

    The prevalence of autism has increased approximately four times in children in nearly one decade (California Health and Human Services Agency, 2003). It has been reported that explanations such as immigration, shifts in the interpretation of diagnostic criteria, improved identification, or diagnostic accuracies cannot explain the observed increase…

  16. Autism Research: Prospects and Priorities.

    Science.gov (United States)

    Rutter, Michael

    1996-01-01

    Research prospects and priorities in autism are discussed with respect to: (1) diagnosis, classification, and epidemiology; (2) clinical research; (3) neuropsychological research; (4) genetics; (5) structural and functional brain imaging; (6) postmortem studies; (7) other biological research; and (8) treatment research. Application of research…

  17. Beyond the Spectrum: Rethinking Autism

    Directory of Open Access Journals (Sweden)

    Heather Thomas

    2017-03-01

    Full Text Available The "spectrum" has become the dominant metaphor for conceptualizing autism, with fundamental consequences for notions of disability, diversity, and normality. In this article, we draw on ethnographic research with autistic communities to explore how the notion of the autism spectrum has become a focus of explicit identification, reflection, and contestation. To further this inquiry, we place these debates into conversation with earlier debates regarding another spectrum—the Kinsey Scale, a "spectrum" for conceptualizing sexual orientation that first appeared in 1948 but has been critiqued since the 1970s. How might responses to the Kinsey Scale (like the Klein Grid contribute to rethinking the autism spectrum? This is a question about the cultural and political implications of metaphors and conceptual models. It is of broad importance because the spectrum metaphor is being extended to a range of conditions beyond autism itself. Our goal is thus to build on insights from sexuality studies as well as the insights of autistic persons, advocates, and researchers who wish to forestall the naturalization of "the spectrum." In doing so, we seek to contribute to a discussion of what alternative frameworks might bring to questions of social justice, ability, and human flourishing.

  18. Which Terms Should Be Used to Describe Autism? Perspectives from the UK Autism Community

    Science.gov (United States)

    Kenny, Lorcan; Hattersley, Caroline; Molins, Bonnie; Buckley, Carole; Povey, Carol; Pellicano, Elizabeth

    2016-01-01

    Recent public discussions suggest that there is much disagreement about the way autism is and should be described. This study sought to elicit the views and preferences of UK autism community members--autistic people, parents and their broader support network--about the terms they use to describe autism. In all, 3470 UK residents responded to an…

  19. The Association between Epilepsy and Autism Symptoms and Maladaptive Behaviors in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Viscidi, Emma W.; Johnson, Ashley L.; Spence, Sarah J.; Buka, Stephen L.; Morrow, Eric M.; Triche, Elizabeth W.

    2014-01-01

    Epilepsy is common in children with autism spectrum disorder (ASD) but little is known about how seizures impact the autism phenotype. The association between epilepsy and autism symptoms and associated maladaptive behaviors was examined in 2,645 children with ASD, of whom 139 had epilepsy, from the Simons Simplex Collection. Children with ASD and…

  20. Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

    Science.gov (United States)

    Clements, Caitlin C; Wenger, Tara L; Zoltowski, Alisa R; Bertollo, Jennifer R; Miller, Judith S; de Marchena, Ashley B; Mitteer, Lauren M; Carey, John C; Yerys, Benjamin E; Zackai, Elaine H; Emanuel, Beverly S; McDonald-McGinn, Donna M; Schultz, Robert T

    2017-01-01

    Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. We recruited 46 patients with nested deletions ( n  = 33) or duplications ( n  = 13) of 22q11.2, including LCR-A to B ( n del  = 11), LCR-A to C ( n del  = 4), LCR-B to D ( n del  = 14; n dup  = 8), LCR-C to D ( n del  = 4; n dup  = 2), and smaller nested regions ( n  = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed.