WorldWideScience

Sample records for autism replication samples

  1. Organic Compounds Detected in Deciduous Teeth: A Replication Study from Children with Autism in Two Samples

    Directory of Open Access Journals (Sweden)

    Raymond F. Palmer

    2015-01-01

    Full Text Available Biological samples are an important part of investigating toxic exposures and disease outcomes. However, blood, urine, saliva, or hair can only reflect relatively recent exposures. Alternatively, deciduous teeth have served as a biomarker of early developmental exposure to heavy metals, but little has been done to assess organic toxic exposures such as pesticides, plastics, or medications. The purpose of our study was to determine if organic chemicals previously detected in a sample of typically developing children could be detected in teeth from a sample of children with autism. Eighty-three deciduous teeth from children with autism spectrum disorders (ASD were chosen from our tooth repository. Organic compounds were assessed using liquid chromatography tandem mass spectrometry and gas chromatography methods. Consistent with a prior report from Camann et al., (2013, we have demonstrated that specific semivolatile organic chemicals relevant to autism etiology can be detected in deciduous teeth. This report provides evidence that teeth can be useful biomarkers of early life exposure for use in epidemiologic case-control studies seeking to identify differential unbiased exposures during development between those with and without specific disorders such as autism.

  2. A Replication of the Autism Diagnostic Observation Schedule (ADOS) Revised Algorithms

    Science.gov (United States)

    Gotham, Katherine; Risi, Susan; Dawson, Geraldine; Tager-Flusberg, Helen; Joseph, Robert; Carter, Alice; Hepburn, Susan; McMahon, William; Rodier, Patricia; Hyman, Susan L.; Sigman, Marian; Rogers, Sally; Landa, Rebecca; Spence, M. Anne; Osann, Kathryn; Flodman, Pamela; Volkmar, Fred; Hollander, Eric; Buxbaum, Joseph; Pickles, Andrew; Lord, Catherine

    2008-01-01

    A study replicated the module comparability and predictive ability of the revised algorithms of the Autism Diagnostic Observation Schedule (ADOS) in an independent dataset of children with autism. Results indicated that the revised ADOS algorithms improved module comparability and predictive validity for autistic children than the earlier…

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

    NARCIS (Netherlands)

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

    2005-01-01

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

  4. The autism inpatient collection: methods and preliminary sample description

    OpenAIRE

    Siegel, Matthew; Smith, Kahsi A.; Mazefsky, Carla; Gabriels, Robin L.; Erickson, Craig; Kaplan, Desmond; Morrow, Eric M; Wink, Logan; Santangelo, Susan L.; ,

    2015-01-01

    Background Individuals severely affected by autism spectrum disorder (ASD), including those with intellectual disability, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data. An understanding of ASD’s etiology and subtypes can only be as complete as the studied samples are representative. Methods The Autism Inpatient Collection (AIC) is a multi-site study enrolling children an...

  5. Assessing Expressed Emotion in Mothers of Children with Autism: The Autism-Specific Five Minute Speech Sample

    Science.gov (United States)

    Benson, Paul R.; Daley, Dave; Karlof, Kristie L.; Robison, Dorothy

    2011-01-01

    Background: Expressed emotion (EE) is a measure of family emotional climate found to be predictive of symptom levels in a range of psychiatric, medical, and developmental disorders, including autism. Method: Employing data from 104 mothers of children with autism, this study examines the Autism-Specific Five Minute Speech Sample (AFMSS), a…

  6. A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.

    Science.gov (United States)

    Ronald, Angelica; Butcher, Lee M; Docherty, Sophia; Davis, Oliver S P; Schalkwyk, Leonard C; Craig, Ian W; Plomin, Robert

    2010-01-01

    Two separate genome-wide association studies were conducted to identify single nucleotide polymorphisms (SNPs) associated with social and nonsocial autistic-like traits. We predicted that we would find SNPs associated with social and non-social autistic-like traits and that different SNPs would be associated with social and nonsocial. In Stage 1, each study screened for allele frequency differences in approximately 430,000 autosomal SNPs using pooled DNA on microarrays in high-scoring versus low-scoring boys from a general population sample (N = approximately 400/group). In Stage 2, 22 and 20 SNPs in the social and non-social studies, respectively, were tested for QTL association by individually genotyping an independent community sample of 1,400 boys. One SNP (rs11894053) was nominally associated (P < .05, uncorrected for multiple testing) with social autistic-like traits. When the sample was increased by adding females, 2 additional SNPs were nominally significant (P < .05). These 3 SNPs, however, showed no significant association in transmission disequilibrium analyses of diagnosed ASD families.

  7. Randomized Clinical Trial Replication of a Psychosocial Treatment for Children with High-Functioning Autism Spectrum Disorders

    Science.gov (United States)

    Thomeer, Marcus L.; Lopata, Christopher; Volker, Martin A.; Toomey, Jennifer A.; Lee, Gloria K.; Smerbeck, Audrey M.; Rodgers, Jonathan D.; McDonald, Christin A.; Smith, Rachael A.

    2012-01-01

    This replication randomized clinical trial examined the efficacy of a comprehensive psychosocial intervention for children aged 7 to 12 years with high-functioning autism spectrum disorders (HFASDs). Participants were randomly assigned to treatment or wait-list conditions. Treatment included instruction and therapeutic activities targeting social…

  8. DESIGN SAMPLING AND REPLICATION ASSIGNMENT UNDER FIXED COMPUTING BUDGET

    Institute of Scientific and Technical Information of China (English)

    Loo Hay LEE; Ek Peng CHEW

    2005-01-01

    For many real world problems, when the design space is huge and unstructured, and time consuming simulation is needed to estimate the performance measure, it is important to decide how many designs to sample and how long to run for each design alternative given that we have only a fixed amount of computing time. In this paper, we present a simulation study on how the distribution of the performance measures and distribution of the estimation errors/noises will affect the decision.From the analysis, it is observed that when the underlying distribution of the noise is bounded and if there is a high chance that we can get the smallest noise, then the decision will be to sample as many as possible, but if the noise is unbounded, then it will be important to reduce the noise level first by assigning more replications for each design. On the other hand, if the distribution of the performance measure indicates that we will have a high chance of getting good designs, the suggestion is also to reduce the noise level, otherwise, we need to sample more designs so as to increase the chances of getting good designs. For the special case when the distributions of both the performance measures and noise are normal, we are able to estimate the number of designs to sample, and the number of replications to run in order to obtain the best performance.

  9. 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…

  10. A New Symptom Model for Autism Cross-Validated in an Independent Sample

    Science.gov (United States)

    Boomsma, A.; Van Lang, N. D. J.; De Jonge, M. V.; De Bildt, A. A.; Van Engeland, H.; Minderaa, R. B.

    2008-01-01

    Background: Results from several studies indicated that a symptom model other than the DSM triad might better describe symptom domains of autism. The present study focused on a) investigating the stability of a new symptom model for autism by cross-validating it in an independent sample and b) examining the invariance of the model regarding three…

  11. The Autism-Spectrum Quotient--Italian Version: A Cross-Cultural Confirmation of the Broader Autism Phenotype

    Science.gov (United States)

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

    2012-01-01

    The Autism Spectrum Quotient (AQ) has been used to define the "broader" (BAP), "medium" (MAP) and "narrow" autism phenotypes (NAP). We used a new Italian version of the AQ to test if difference on AQ scores and the distribution of BAP, MAP and NAP in autism parents (n = 245) versus control parents (n = 300) were replicated in a Sicilian sample.…

  12. Autism

    Science.gov (United States)

    ... for problems with things like attention, hyperactivity, and sleep) Many other types of therapy (including diet, music, and art therapies) can help people with autism spectrum disorder. Teens with autism ...

  13. 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…

  14. Autism

    Science.gov (United States)

    ... Anxiety Disorders Autism Bipolar Disorder Borderline Personality Disorder Depression Dissociative Disorders Eating Disorders Obsessive-Compulsive Disorder Posttraumatic Stress Disorder Schizoaffective ...

  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. 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…

  17. 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

    1997-01-01

    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

  18. 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

    2016-08-01

    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 stress in adults with high-functioning autism and to explore the feasibility of delivering real-time stress management techniques using a mobile platform. High levels of anxiety were found to be characterised by worry, confusing thoughts and being alone but was not associated with internal focus, imagery or rumination. Participants reported improved mood and less worry and anxious thinking in the active phase of the study. These results support previous studies indicating that people with high-functioning autism differ in their experience of anxiety and provided preliminary data on the feasibility of real-time stress management. The limitations of this approach are discussed together with considerations for future work in the area of developing clinical interventions on mobile platforms. PMID:26514793

  19. 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, 2011).…

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

    Science.gov (United States)

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

    2013-01-01

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

  1. 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.

  2. Faux Pas Detection and Intentional Action in Asperger Syndrome. A Replication on a French Sample

    Science.gov (United States)

    Zalla, Tiziana; Sav, Anca-Maria; Stopin, Astrid; Ahade, Sabrina; Leboyer, Marion

    2009-01-01

    In the present study, we investigated mindreading abilities in a group of adults with Asperger Syndrome (AS) by using the faux pas task, an advanced test of theory of mind (Baron-Cohen et al. (1999). "Journal of Autism and Developmental Disorders, 29," 407-418). The faux pas is a particular case of a non-intentional action reflecting an…

  3. A Comparison of Three Self-Report Measures of the Broader Autism Phenotype in a Non-Clinical Sample

    Science.gov (United States)

    Ingersoll, Brooke; Hopwood, Christopher J.; Wainer, Allison; Donnellan, M. Brent

    2011-01-01

    Three self-report measures of the broader autism phenotype (BAP) were evaluated in terms of their internal consistency, distribution of scores, factor structure, and criterion-related validity in a non-clinical sample. All measures showed a continuous distribution. The SRS-A and BAPQ showed expected sex differences and were superior to the AQ in…

  4. 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…

  5. 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; 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

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

    NARCIS (Netherlands)

    Bildt, A. de; Sytema, S.; Zander, E.; Bolte, S.; Sturm, H.; Yirmiya, N.; Yaari, M.; Charman, T.; Salomone, E.; LeCouteur, A.; Green, J.; Bedia, R.C.; Primo, P.G.; Daalen, E. van; Jonge, M.V. de; Guethmundsdottir, E.; Johannsdottir, S.; Raleva, M.; Boskovska, M.; Roge, B.; Baduel, S.; Moilanen, I.; Yliherva, A.; Buitelaar, J.; Oosterling, I.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

  7. 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.

    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

  8. 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…

  9. Validation of the Autism Spectrum Screening Questionnaire in a Total Population Sample

    Science.gov (United States)

    Posserud, Maj-Britt; Lundervold, Astri J.; Gillberg, Christopher

    2009-01-01

    There is a lack of instruments validated for screening of autism spectrum disorders (ASD) in general populations and primary care settings. The Autism Spectrum Screening Questionnaire (ASSQ) has previously been shown to have good screening properties in clinical settings. We used the ASSQ to screen a total population of 7-9 year-olds (N = 9430)…

  10. 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

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

    OpenAIRE

    Nahit Motavalli Mukaddes; Mustafa Deniz Tutkunkardas; Oktay Sari; Aydan Aydin; Pınar Kozanoglu

    2014-01-01

    Aim. The aim of this study was to describe a group of children who lost a diagnosis of autism following participation in early educational programs. Method. This is a descriptive study reporting the characteristics of children (n: 39) who lost their diagnosis of autism and explaining the educational programs that these children followed. The data were collected by reviewing the participants' files and through examinations. Results. All of the children were placed at regular psychiatric follow...

  13. Autism Society

    Science.gov (United States)

    ... is Autism? What is Autism? Symptoms Diagnosis Causes Asperger’s Syndrome Facts and Statistics Living with Autism Living with ... is Autism? What is Autism? Symptoms Diagnosis Causes Asperger’s Syndrome Facts and Statistics Living with Autism Living with ...

  14. Brief Report: The Go/No-Go Task Online: Inhibitory Control Deficits in Autism in a Large Sample.

    Science.gov (United States)

    Uzefovsky, F; Allison, C; Smith, P; Baron-Cohen, S

    2016-08-01

    Autism Spectrum Conditions (ASC, also referred to as Autism Spectrum Disorders) entail difficulties with inhibition: inhibiting action, inhibiting one's own point of view, and inhibiting distractions that may interfere with a response set. However, the association between inhibitory control (IC) and ASC, especially in adulthood, is unclear. The current study measured IC, using the Go/No-Go task online, in a large adult sample of 201 people with ASC and 240 controls. Number of both False Alarm and False Positive responses were significantly associated with autistic traits and diagnostic status, separately, but not jointly. These findings suggest that deficits in inhibition are associated with ASC. Future studies need to investigate the role of inhibition in ASC in everyday difficulties. PMID:27103120

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

    Directory of Open Access Journals (Sweden)

    Nahit Motavalli Mukaddes

    2014-01-01

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

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

    OpenAIRE

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

    2016-01-01

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

  17. 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…

  18. Developmental, Familial and Educational Characteristics of a Sample of Children with Autism Spectrum Disorders in Greece

    Science.gov (United States)

    Stampoltzis, Aglaia; Papatrecha, Virginia; Polychronopoulou, Stavroula; Mavronas, Dimitris

    2012-01-01

    The aim of this study is to describe the developmental, familial and educational characteristics of 91 children with a clinical diagnosis of autism spectrum disorders (ASDs), from one educational district of Athens, Greece. Records of the 91 children, aged 4-14 years old, were examined with respect to sex, age of diagnosis, type of ASDs, school…

  19. Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders

    Science.gov (United States)

    Ververi, Athina; Vargiami, Efthymia; Papadopoulou, Vassiliki; Tryfonas, Dimitrios; Zafeiriou, Dimitrios I.

    2012-01-01

    The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5-9 years. The mean age at diagnosis was 43.7 [plus or minus] 17.6 months. Significantly earlier diagnoses were noted in children…

  20. Improved ligand binding energies derived from molecular dynamics: replicate sampling enhances the search of conformational space.

    Science.gov (United States)

    Adler, Marc; Beroza, Paul

    2013-08-26

    Does a single molecular trajectory provide an adequate sample conformational space? Our calculations indicate that for Molecular Mechanics--Poisson-Boltzmann Surface Area (MM-PBSA) measurement of protein ligand binding, a single molecular dynamics trajectory does not provide a representative sampling of phase space. For a single trajectory, the binding energy obtained by averaging over a number of molecular dynamics frames in an equilibrated system will converge after an adequate simulation time. A separate trajectory with nearly identical starting coordinates (1% randomly perturbed by 0.001 Å), however, can lead to a significantly different calculated binding energy. Thus, even though the calculated energy converges for a single molecular dynamics run, the variation across separate runs implies that a single run inadequately samples the system. The divergence in the trajectories is reflected in the individual energy components, such as the van der Waals and the electrostatics terms. These results indicate that the trajectories sample different conformations that are not in rapid exchange. Extending the length of the dynamics simulation does not resolve the energy differences observed between different trajectories. By averaging over multiple simulations, each with a nearly equivalent starting structure, we find the standard deviation in the calculated binding energy to be ∼1.3 kcal/mol. The work presented here indicates that combining MM-PBSA with multiple samples of the initial starting coordinates will produce more precise and accurate estimates of protein/ligand affinity. PMID:23845109

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  2. A Controlled Study of Mercury Levels in Hair Samples of Children with Autism as Compared to Their Typically Developing Siblings

    Science.gov (United States)

    Williams, P. Gail; Hersh, Joseph H.; Allard, AnnaMary; Sears, Lonnie L.

    2008-01-01

    Autism is a developmental disability characterized by severe, pervasive deficits in social interaction, communication and range of interests and activities. The neurobiologic basis of autism is well accepted, although the specific etiology is unknown. It has been theorized that autism may result from a combination of predisposing genes and…

  3. 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.

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

    Science.gov (United States)

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

    2014-01-01

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

  5. Clinical audit for occupational therapy intervention for children with autism spectrum disorder: sampling steps and sample size calculation

    OpenAIRE

    Weeks, Scott; Atlas, Alvin

    2015-01-01

    A priori sample size calculations are used to determine the adequate sample size to estimate the prevalence of the target population with good precision. However, published audits rarely report a priori calculations for their sample size. This article discusses a process in health services delivery mapping to generate a comprehensive sampling frame, which was used to calculate an a priori sample size for a targeted clinical record audit. We describe how we approached methodological and defini...

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

    Science.gov (United States)

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

    2016-07-01

    This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish children and adults recently diagnosed with autism spectrum disorder. The study reports key findings that the gender ratio in this consecutively referred cohort is lower than anticipated in some age groups and reduces with increasing age. The gender ratio in children, together with the significant difference in the mean age of referral and diagnosis for girls compared to boys, adds evidence of delayed recognition of autism spectrum disorder in younger girls. There was no significant difference in duration of assessment for males and females suggesting that delays in diagnosis of females occur prior to referral for assessment. Implications for practice and research are considered.

  7. Examination of Local Functional Homogeneity in Autism

    Directory of Open Access Journals (Sweden)

    Lili Jiang

    2015-01-01

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

  8. Clinical audit for occupational therapy intervention for children with autism spectrum disorder: sampling steps and sample size calculation.

    Science.gov (United States)

    Weeks, Scott; Atlas, Alvin

    2015-01-01

    A priori sample size calculations are used to determine the adequate sample size to estimate the prevalence of the target population with good precision. However, published audits rarely report a priori calculations for their sample size. This article discusses a process in health services delivery mapping to generate a comprehensive sampling frame, which was used to calculate an a priori sample size for a targeted clinical record audit. We describe how we approached methodological and definitional issues in the following steps: (1) target population definition, (2) sampling frame construction, and (3) a priori sample size calculation. We recommend this process for clinicians, researchers, or policy makers when detailed information on a reference population is unavailable. PMID:26122044

  9. "The Intolerance of Uncertainty Index: Replication and Extension With an English Sample": Correction to Carleton, Gosselin, and Asmundson (2010).

    Science.gov (United States)

    2016-02-01

    Reports an error in "The Intolerance of Uncertainty Index: Replication and extension with an English sample" by R. Nicholas Carleton, Patrick Gosselin and Gordon J. G. Asmundson (Psychological Assessment, 2010[Jun], Vol 22[2], 396-406). In the article, the Factor loading of the First sample in Table 2 should have begun with Item 2 and the final value in that table should not exist. Factor 1 should be associated with Items 2, 5, 6, 7, 9, 11, 13, 17, 21, and 30; Factor 2 should be associated with Items 3, 14, 19, 23, and 29; and Factor 3 should be associated with Items 4, 10, 18, 24, and 27. (The following abstract of the original article appeared in record 2010-10892-019.) Intolerance of uncertainty (IU) is related to anxiety, depression, worry, and anxiety sensitivity. Precedent IU measures were criticized for psychometric instability and redundancy; alternative measures include the novel 45-item measure (Intolerance of Uncertainty Index; IUI). The IUI was developed in French with 2 parts, assessing general unacceptability of uncertainty (15 items, Part A) and manifestations of uncertainty approximating more common anxiety disorder symptoms (30 items, Part B). The psychometric stability of the back-translated English items of the IUI as well as the incremental variance of Parts A and B remain to be assessed. The current study involved 2 samples of English-speaking community participants (n = 437 and n = 309; 73% women and 27% men) who completed the IUI and several related measures. Exploratory and confirmatory factor analyses suggested a refinement of IUI items as well as a unitary structure for Part A and a 3-factor structure for Part B. Regression results suggested Parts A and B each provide incremental validity in measures of worry, generalized anxiety disorder symptoms, negative problem orientation, and depression. Comprehensive results, implications, and future research directions are discussed. (PsycINFO Database Record PMID:26502201

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

    Science.gov (United States)

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

    2016-01-01

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

  11. Autism Spectrum Disorders as a Qualitatively Distinct Category from Typical Behavior in a Large, Clinically Ascertained Sample

    Science.gov (United States)

    Frazier, Thomas W.; Youngstrom, Eric A.; Sinclair, Leslie; Kubu, Cynthia S.; Law, Paul; Rezai, Ali; Constantino, John N.; Eng, Charis

    2010-01-01

    The present study evaluated the hypothesis that autism spectrum disorders (ASDs) are best represented as a discrete category distinct from typical behavior within autism-affected families. The latent structure, categorical versus dimensional, of ASDs informs future diagnostic revisions, clinical assessment, and the design of future research. Data…

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

    Science.gov (United States)

    Armstrong, Kimberly; Iarocci, Grace

    2013-01-01

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

  13. Predictors and Moderators of Parent Training Efficacy in a Sample of Children with Autism Spectrum Disorders and Serious Behavioral Problems

    Science.gov (United States)

    Farmer, Cristan; Lecavalier, Luc; Yu, Sunkyung; Arnold, L. Eugene; McDougle, Christopher J.; Scahill, Lawrence; Handen, Benjamin; Johnson, Cynthia R.; Stigler, Kimberly A.; Bearss, Karen; Swiezy, Naomi B.; Aman, Michael G.

    2012-01-01

    The Research Units on Pediatric Psychopharmacology-Autism Network reported additional benefit when adding parent training (PT) to antipsychotic medication in children with autism spectrum disorders and serious behavior problems. The intent-to-treat analyses were rerun with putative predictors and moderators. The "Home Situations Questionnaire"…

  14. Co-Occurrence of Autism and Asthma in a Nationally-Representative Sample of Children in the United States

    Science.gov (United States)

    Kotey, Stanley; Ertel, Karen; Whitcomb, Brian

    2014-01-01

    Few large epidemiological studies have examined the co-occurrence of autism and asthma. We performed a cross-sectional study to examine this association using the 2007 National Survey of Children's Health dataset (n = 77,951). We controlled for confounders and tested for autism-secondhand smoke interaction. Prevalence of asthma and autism…

  15. Brief Report: The Go/No-Go Task Online: Inhibitory Control Deficits in Autism in a Large Sample

    Science.gov (United States)

    Uzefovsky, F.; Allison, C.; Smith, P.; Baron-Cohen, S.

    2016-01-01

    Autism Spectrum Conditions (ASC, also referred to as Autism Spectrum Disorders) entail difficulties with inhibition: inhibiting action, inhibiting one's own point of view, and inhibiting distractions that may interfere with a response set. However, the association between inhibitory control (IC) and ASC, especially in adulthood, is unclear. The…

  16. Disclosing the Firing Protocol of Athenian Pottery Production: A Raman and Colorimetric Study of Replicates and Original Samples

    Science.gov (United States)

    Cianchetta, I.; Trentelman, K.; Maish, J.; Walton, M.

    2014-06-01

    The work presented here examines the technological foundations of Athenian pottery production through the replication of the firing technology. Raman spectroscopy and colorimetry were used to investigate composition and color of ceramics slips.

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

    Directory of Open Access Journals (Sweden)

    Yongjun Wang

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

  18. Determination of total carbon and nitrogen content in a range of tropical soils using near infrared spectroscopy : influence of replication and sample grinding and drying

    OpenAIRE

    Barthès, Bernard; Brunet, Didier; Ferrer, Henri; Chotte, Jean-Luc; Feller, Christian

    2006-01-01

    Near infrared (NIR) reflectance spectroscopy has been receiving increased attention for the rapid and inexpensive determination of soil properties and of total carbon (Ct) and nitrogen content (Nt) in particular. However, methodological aspects such as sample grinding and drying or replication have not been addressed extensively. The objectives of the paper were, thus, to assess how NIR predictions of Ct and Nt were affected by sample grinding (2 mm sieving vs. 0.2 mm grinding), drying (air-d...

  19. 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

  20. Autism Plus versus Autism Pure

    Science.gov (United States)

    Gillberg, Christopher; Fernell, Elisabeth

    2014-01-01

    The reported prevalence of autism is going up and up. We propose that some--even much--of the increase in the rate of autism spectrum disorder (ASD) is driven by "Autism Plus". Autism Plus refers to autism with comorbidities (including intellectual developmental disorder, language disorder, and attention-deficit/hyperactivity disorder),…

  1. Absence of evidence for increase in risk for autism or attention-deficit hyperactivity disorder following antidepressant exposure during pregnancy: a replication study.

    Science.gov (United States)

    Castro, V M; Kong, S W; Clements, C C; Brady, R; Kaimal, A J; Doyle, A E; Robinson, E B; Churchill, S E; Kohane, I S; Perlis, R H

    2016-01-05

    Multiple studies have examined the risk of prenatal antidepressant exposure and risk for autism spectrum disorder (ASD) or attention-deficit hyperactivity disorder (ADHD), with inconsistent results. Precisely estimating such risk, if any, is of great importance in light of the need to balance such risk with the benefit of depression and anxiety treatment. We developed a method to integrate data from multiple New England health systems, matching offspring and maternal health data in electronic health records to characterize diagnoses and medication exposure. Children with ASD or ADHD were matched 1:3 with children without neurodevelopmental disorders. Association between maternal antidepressant exposure and ASD or ADHD liability was examined using logistic regression, adjusting for potential sociodemographic and psychiatric confounding variables. In new cohorts of 1245 ASD cases and 1701 ADHD cases, along with age-, sex- and socioeconomic status matched controls, neither disorder was significantly associated with prenatal antidepressant exposure in crude or adjusted models (adjusted odds ratio 0.90, 95% confidence interval 0.50-1.54 for ASD; 0.97, 95% confidence interval 0.53-1.69 for ADHD). Pre-pregnancy antidepressant exposure significantly increased risk for both disorders. These results suggest that prior reports of association between prenatal antidepressant exposure and neurodevelopmental disease are likely to represent a false-positive finding, which may arise in part through confounding by indication. They further demonstrate the potential to integrate data across electronic health records studies spanning multiple health systems to enable efficient pharmacovigilance investigation.

  2. Absence of evidence for increase in risk for autism or attention-deficit hyperactivity disorder following antidepressant exposure during pregnancy: a replication study

    Science.gov (United States)

    Castro, V M; Kong, S W; Clements, C C; Brady, R; Kaimal, A J; Doyle, A E; Robinson, E B; Churchill, S E; Kohane, I S; Perlis, R H

    2016-01-01

    Multiple studies have examined the risk of prenatal antidepressant exposure and risk for autism spectrum disorder (ASD) or attention-deficit hyperactivity disorder (ADHD), with inconsistent results. Precisely estimating such risk, if any, is of great importance in light of the need to balance such risk with the benefit of depression and anxiety treatment. We developed a method to integrate data from multiple New England health systems, matching offspring and maternal health data in electronic health records to characterize diagnoses and medication exposure. Children with ASD or ADHD were matched 1:3 with children without neurodevelopmental disorders. Association between maternal antidepressant exposure and ASD or ADHD liability was examined using logistic regression, adjusting for potential sociodemographic and psychiatric confounding variables. In new cohorts of 1245 ASD cases and 1701 ADHD cases, along with age-, sex- and socioeconomic status matched controls, neither disorder was significantly associated with prenatal antidepressant exposure in crude or adjusted models (adjusted odds ratio 0.90, 95% confidence interval 0.50−1.54 for ASD; 0.97, 95% confidence interval 0.53−1.69 for ADHD). Pre-pregnancy antidepressant exposure significantly increased risk for both disorders. These results suggest that prior reports of association between prenatal antidepressant exposure and neurodevelopmental disease are likely to represent a false-positive finding, which may arise in part through confounding by indication. They further demonstrate the potential to integrate data across electronic health records studies spanning multiple health systems to enable efficient pharmacovigilance investigation. PMID:26731445

  3. Investigating variation in replicability: A "Many Labs" replication project

    NARCIS (Netherlands)

    Klein, R.A.; Ratliff, K.A.; Vianello, M.; Adams, R.B.; Bahnik, S.; Bernstein, M.J.; Bocian, K.; Brandt, M.J.; Brooks, B.; Brumbaugh, C.C.; Cemalcilar, Z.; Chandler, J.; Cheong, W.; Davis, W.E.; Devos, T.; Eisner, M.; Frankowska, N.; Furrow, D.; Galliani, E.M.; Hasselman, F.W.; Hicks, J.A.; Hovermale, J.F.; Hunt, S.J.; Huntsinger, J.R.; IJzerman, H.; John, M.S.; Joy-Gaba, J.A.; Kappes, H.B.; Krueger, L.E.; Kurtz, J.; Levitan, C.A.; Mallett, R.K.; Morris, W.L.; Nelson, A.J.; Nier, J.A.; Packard, G.; Pilati, R.; Rutchick, A.M.; Schmidt, K.; Skorinko, J.L.M.; Smith, R.; Steiner, T.G.; Storbeck, J.; Van Swol, L.M.; Thompson, D.; Veer, A.E. van 't; Vaughn, L.A.; Vranka, M.; Wichman, A.L.; Woodzicka, J.A.; Nosek, B.A.

    2014-01-01

    Although replication is a central tenet of science, direct replications are rare in psychology. This research tested variation in the replicability of 13 classic and contemporary effects across 36 independent samples totaling 6,344 participants. In the aggregate, 10 effects replicated consistently.

  4. 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…

  5. DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes

    OpenAIRE

    Grzadzinski, Rebecca; Huerta, Marisela; Lord, Catherine

    2013-01-01

    The heterogeneous clinical presentations of individuals with autism spectrum disorders (ASDs) poses a significant challenge for sample characterization and limits the interpretability and replicability of research studies. The Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) diagnostic criteria for ASD, with its dimensional approach, may be a useful framework to increase the homogeneity of research samples. In this review, we summarize the revisions to the diagnostic...

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

    Science.gov (United States)

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

    2016-04-01

    This study explored the everyday life experiences of individuals with an autism spectrum disorder (ASD). Fourteen Australians and 16 Taiwanese (aged 16-45 years) with Asperger syndrome/high functioning autism recorded what they were doing, level of interest/involvement, emotional reactions and preference for being alone 7 times/day for 7 days. Multilevel analyses showed that 'solitary/parallel leisure' and 'social activities' were positively associated with interest and involvement. Engaging in these two activities and interacting with friends were positively associated with enjoyment. However, engaging in 'social activities' and having less severe ASD symptoms were associated with in-the-moment anxiety. Severity of ASD and social anxiety moderated experience in social situations. The findings highlight the importance of considering the in-the-moment experience of people with ASD. PMID:26687569

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

    Directory of Open Access Journals (Sweden)

    Ravinesh A Kumar

    Full Text Available BACKGROUND: 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. METHODOLOGY/PRINCIPAL FINDINGS: 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. CONCLUSIONS/SIGNIFICANCE: 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.

  8. 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…

  9. 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...

  10. Autism Speaks

    Science.gov (United States)

    ... summary of House to Home Prize Congress highlights role of small business employing those with autism The Importance of Water Safety: Tips and Tools See all Families & Adults Adult Services Autism Apps and Technology Autism Response Team Community Outreach Grants Non-English Resources Resource Guide ...

  11. How autism became autism

    Science.gov (United States)

    Evans, Bonnie

    2013-01-01

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

  12. 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,…

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

    Science.gov (United States)

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

    2016-09-01

    We examined co-occurrence of autism spectrum disorder (ASD) with (traits of) attention-deficit/hyperactivity (ADHD), obsessive-compulsive (OCD) and inhibition deficits in a community sample (n = 16,676) and tested whether having a sibling with ASD manifested in increased features of ADHD, OCD or inhibition deficits. Individuals with ASD had increased ADHD and OCD traits compared with individuals without ASD. Individuals with a sibling with ASD exhibited more ADHD traits than did individuals whose sibling did not have ASD. The "sibling effect" on manifestation of ADHD traits was observed in individuals with and without ASD. Having a sibling with ASD did not affect OCD traits. Inhibition was impaired in individuals with ASD who had a sibling with ASD only. PMID:27401994

  14. 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

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

    OpenAIRE

    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) diagnosed with ASD. A domain-general deficit in the ability of children with ASD to replicate the gestures of others is hypothesized to be a source of p...

  16. Sensory Features as Diagnostic Criteria for Autism: Sensory Features in Autism

    OpenAIRE

    Grapel, Jordan N.; Cicchetti, Domenic V.; Volkmar, Fred R.

    2015-01-01

    In this study, we examined the frequency of sensory-related issues as reported by parents in a large sample of school-age adolescents and adults with autism/autism spectrum disorder (ASD) [1] as compared to a group of individuals receiving similar clinical evaluations for developmental/behavioral difficulties but whose final diagnoses were not on the autism spectrum. In no comparison were the features examined predictive of autism or autism spectrum in comparison to the non-ASD sample. Only f...

  17. Functional connectivity magnetic resonance imaging classification of autism

    OpenAIRE

    Jeffrey S Anderson; 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; Andrew L. Alexander; 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 whether functional connectivity is sufficiently robust to be used as a diagnostic or prognostic metric in individual patients with autism. We obtained p...

  18. 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

  19. 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…

  20. Factor Structure Evaluation of the Childhood Autism Rating Scale

    Science.gov (United States)

    Magyar, Caroline I.; Pandolfi, Vincent

    2007-01-01

    This study investigated the factor structure of the Childhood Autism Rating Scale (CARS). Principal components analysis (PCA) and principal axis factor analysis (PAF) evaluated archival data from children presenting to a university clinic with suspected autism spectrum disorders (ASDs; N = 164). PCA did not replicate components identified by…

  1. Replicating vaccines

    Science.gov (United States)

    Early work on fish immunology and disease resistance demonstrated fish (like animals and humans) that survived infection were typically resistant to re-infection with the same pathogen. The concepts of resistance upon reinfection lead to the research and development of replicating (live) vaccines in...

  2. Microbiota-Gut-Brain Axis: Yeast Species Isolated from Stool Samples of Children with Suspected or Diagnosed Autism Spectrum Disorders and In Vitro Susceptibility Against Nystatin and Fluconazole.

    Science.gov (United States)

    Kantarcioglu, A Serda; Kiraz, Nuri; Aydin, Ahmet

    2016-02-01

    Autism spectrum disorder (ASD) is a general term for a group of complex neurodevelopmental disorders of brain development that limits a person's ability to function normally. Etiology has not been clearly defined up to date. However, gut microbiota and the bidirectional communication between the gastrointestinal tract and brain, the so-called microbiota-gut-brain axis, are hypothesized, which may be involved in the etiology of several mental disorders. Recent reports suggest that Candida, particularly Candida albicans, growth in intestines may cause lower absorption of carbohydrates and minerals and higher toxin levels which are thought to contribute autistic behaviors. The aim of this study was to identify the 3-year deposited yeasts isolated from stool samples of children with diagnosed or suspected ASD and to determine in vitro activity of nystatin and fluconazole against these isolates using Clinical Laboratory Standards Institute M27-A3 guidelines. A 17-year retrospective assessment was also done using our laboratory records. Among the species identified, intrinsically fluconazole-resistant Candida krusei (19.8 %) and Candida glabrata (14.8 %) with elevated MICs were remarkable. Overall, C. albicans (57.4 %) was the most commonly isolated species in 17 years. The species identification and/or antifungal susceptibility tests have to be performed using the strain isolated from stool sample, to select the appropriate antifungal agent, if antimycotic therapy is needed.

  3. A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases

    Directory of Open Access Journals (Sweden)

    Delgado Marietha

    2005-03-01

    Full Text Available Abstract Background Autism is a heritable developmental disorder of communication and socialization that has not been well studied in Hispanic populations. Therefore, we are collecting and evaluating all possible cases of autism from a population isolate in the Central Valley of Costa Rica (CVCR for a clinical and genetic study. Methods We are assessing all subjects and parents, as appropriate, using the newly translated Spanish versions of the Autism Diagnostic Interview-Revised (ADI-R and the Autism Diagnostic Observation Schedule (ADOS as well as tests of intelligence and adaptive behavior. Detailed obstetric and family medical/psychiatric histories are taken. All cases are tested for Fragile X and will be extensively evaluated for cytogenetic abnormalities. Results To date we have obtained clinical evaluations on over 76 cases of possible autism referred to our study and report data for the initial 35 complete cases. The mean age of the probands is 6.7 years, and 31 of the 35 cases are male. Twenty-one of the cases have IQs Conclusion Diagnostic data gathered on cases of autism in the CVCR using Spanish versions of the ADI-R and ADOS look similar to that generated by studies of English-speaking cases. However, only 17% of our cases have IQs within the normal range, compared to the figure of 25% seen in most studies. This result reflects an ascertainment bias in that only severe cases of autism come to treatment in the CVCR because there are no government-sponsored support programs or early intervention programs providing an incentive to diagnose autism. The severity of mental retardation seen in most of our cases may also be exaggerated by the lack of early intervention programs and the use of IQ tests without Costa Rican norms. Still, we must formally train healthcare providers and teachers to recognize and refer autistic cases with normal or near normal IQs that are not seen in treatment.

  4. Global Autism: Autism, Autism Etiology, Perceptions, Epistemology, Prevalence and Action

    OpenAIRE

    Ganaie S.A; Bashir A

    2014-01-01

    Autism is a Neuro-Developmental Disorder affecting socialization and communication with stereotype behaviors. The research Scientists all over world found that genetic and environmental factors are causes of Autism Spectrum Disorders. Over the past decade, worldwide Autism, advanced rehabilitation services and research estimates of increase between 50% to over 2000% in cases of Autism Spectrum Disorder diagnoses. The rise in diagnoses of Autism Spectrum Disorder impacts us all....

  5. Efficient usage of Adabas replication

    CERN Document Server

    Storr, Dieter W

    2011-01-01

    In today's IT organization replication becomes more and more an essential technology. This makes Software AG's Event Replicator for Adabas an important part of your data processing. Setting the right parameters and establishing the best network communication, as well as selecting efficient target components, is essential for successfully implementing replication. This book provides comprehensive information and unique best-practice experience in the field of Event Replicator for Adabas. It also includes sample codes and configurations making your start very easy. It describes all components ne

  6. Autism and Genes

    Science.gov (United States)

    National Institutes of Health, 2005

    2005-01-01

    This document defines and discusses autism and how genes play a role in the condition. Answers to the following questions are covered: (1) What are genes? (2) What is autism? (3) What causes autism? (4) Why study genes to learn about autism? (5) How do researchers look for the genes involved in autism? (screen the whole genome; conduct cytogenetic…

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

    Science.gov (United States)

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

    2016-03-01

    We explore the relationship between the 'theory of mind' (ToM) and 'central coherence' difficulties of autism. We introduce covariation between hierarchically-embedded categories and social information--at the local level, the global level, or at both levels simultaneously--within a category confusion task. We then ask participants to infer the mental state of novel category members, and measure participants' autism-spectrum quotient (AQ). Results reveal a positive relationship between AQ and the degree of local/global social categorization, which in turn predicts the pattern of mental state inferences. These results provide preliminary evidence for a causal relationship between central coherence and ToM abilities. Implications with regard to ToM processes, social categorization, intervention, and the development of a unified account of autism are discussed.

  8. Teaching Helping to Adolescents with Autism

    Science.gov (United States)

    Day-Watkins, Jessica; Murray, Rachel; Connell, James E.

    2014-01-01

    This study is a replication and extension of Reeve, Reeve, Townsend, and Poulson (2007) evaluating the effects of a treatment package that included multiple-exemplar training, video modeling, prompting, and reinforcement on helping of 3 adolescents with autism. Results demonstrated that all participants acquired the helping responses. Probes…

  9. Behavioral phenotypes of genetic mouse models of autism.

    Science.gov (United States)

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

    2016-01-01

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

  10. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    ... Español (Spanish) Recommend on Facebook Tweet Share Compartir Autism spectrum disorder (ASD) is a group of developmental ... key findings. About Us Overview of CDC’s work. Autism: What's New New Data on Autism: Five Facts ...

  11. 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…

  12. 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...

  13. 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

    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 reli

  14. 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…

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

    Directory of Open Access Journals (Sweden)

    Farida El Baz Mohamed

    2015-01-01

    Full Text Available Background and Aims. 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. Methods. 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. Results. 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. Conclusion. 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.

  16. Replication in Economics

    OpenAIRE

    Hamermesh, Daniel S.

    2007-01-01

    This examination of the role and potential for replication in economics points out the paucity of both pure replication -- checking on others' published papers using their data -- and scientific replication -- using data representing different populations in one's own work or in a Comment. Several controversies in empirical economics illustrate how and how not to behave when replicating others' work. The incentives for replication facing editors, authors and potential replicators are examined...

  17. Autism and tuberous sclerosis.

    OpenAIRE

    Smalley, SL; Tanguay, PE; Smith, M.; Gutierrez, G.

    1992-01-01

    Autism is a behavior disorder with genetic influences indicated from twin and family studies and from the co-occurrence of autism with known genetic disorders. Tuberous sclerosis complex (TSC) is a known genetic disorder with behavioral manifestations including autism. A literature review of these two disorders substantiates a significant association of autism and TSC with 17-58% of TSC subjects manifesting autism and 0.4-3% of autistic subjects having TSC. In initial data collected on 13 TSC...

  18. 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.

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

    Science.gov (United States)

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

    2010-01-01

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

  20. 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

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

    OpenAIRE

    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 offenders who describe their parents as authoritative are more psychosocially mature, more academically competent, less prone to internalized distress, and...

  2. Brief Report: Excellent Agreement between Two Brief Autism Scales (Checklist for Autism Spectrum Disorder and Social Responsiveness Scale) Completed Independently by Parents and the Autism Diagnostic Interview-Revised

    Science.gov (United States)

    Murray, Michael J.; Mayes, Susan Dickerson; Smith, Laura A.

    2011-01-01

    Agreement between the Autism Diagnostic Interview-Revised (ADI-R) and two brief scales completed by parents was 93.1% for the Checklist for Autism Spectrum Disorder (CASD) and 89.7% for the Social Responsiveness Scale (SRS) in a sample of adolescents with suspected autism spectrum disorders. Our study is consistent with others showing that brief…

  3. Empirical Bayes accomodation of batch-effects in microarray data using identical replicate reference samples: application to RNA expression profiling of blood from Duchenne muscular dystrophy patients

    Directory of Open Access Journals (Sweden)

    McCulloch Charles E

    2008-10-01

    Full Text Available Abstract Background Non-biological experimental error routinely occurs in microarray data collected in different batches. It is often impossible to compare groups of samples from independent experiments because batch effects confound true gene expression differences. Existing methods can correct for batch effects only when samples from all biological groups are represented in every batch. Results In this report we describe a generalized empirical Bayes approach to correct for cross-experimental batch effects, allowing direct comparisons of gene expression between biological groups from independent experiments. The proposed experimental design uses identical reference samples in each batch in every experiment. These reference samples are from the same tissue as the experimental samples. This design with tissue matched reference samples allows a gene-by-gene correction to be performed using fewer arrays than currently available methods. We examine the effects of non-biological variation within a single experiment and between experiments. Conclusion Batch correction has a significant impact on which genes are identified as differentially regulated. Using this method, gene expression in the blood of patients with Duchenne Muscular Dystrophy is shown to differ for hundreds of genes when compared to controls. The numbers of specific genes differ depending upon whether between experiment and/or between batch corrections are performed.

  4. Cross-cultural replication of the five-factor model and comparison of the NEO-PI-R and MMPI-2 PSY-5 scales in a Dutch psychiatric sample.

    Science.gov (United States)

    Egger, Jos I M; De Mey, Hubert R A; Derksen, Jan J L; van der Staak, Cees P F

    2003-03-01

    The authors investigated cross-cultural replicability of the five-factor model (FFM) of personality as represented by the revised NEO Personality Inventory (NEO-PI-R; P. T. Costa & R. R. McCrae, 1992) in a sample of 423 Dutch psychiatric patients. Also, NEO-PI-R domain scales were compared with the Personality Psychopathology Five (PSY-5; A. R. Harkness & J. L. McNulty, 1994) scales of the Minnesota Multiphasic Personality Inventory-2 (J. N. Butcher, W. G. Dahlstrom, J. R. Graham, A. Tellegen, & B. Kaemmer, 2002). Principal-components analysis with procrustean rotation confirmed the hypothesized structural similarity of the present sample with the U.S. normative factor scores. All of the hypothesized relations between NEO-PI-R and PSY-5 scales were confirmed. The results provide evidence for cross-cultural replicability of the FFM and for validity of the NEO-PI-R and PSY-5 constructs in the psychological assessment of psychiatric patients. PMID:12674727

  5. 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…

  6. Elevated fetal steroidogenic activity in autism

    OpenAIRE

    Baron-Cohen, S.; Auyeung, B; Nørgaard-Pedersen, B; Hougaard, D. M.; Abdallah, M. W.; Melgaard, L.; Cohen, A S; Chakrabarti, Bhisma; 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 deve...

  7. Replicability of Experiment

    Directory of Open Access Journals (Sweden)

    John D. Norton

    2015-06-01

    Full Text Available The replicability of experiment is routinely offered as the gold standard of evidence. I argue that it is not supported by a universal principle of replicability in inductive logic. A failure of replication may not impugn a credible experimental result; and a successful replication can fail to vindicate an incredible experimental result. Rather, employing a material approach to inductive inference, the evidential import of successful replication of an experiment is determined by the prevailing background facts. Commonly, these background facts do support successful replication as a good evidential guide and this has fostered the illusion of a deeper, exceptionless principle.

  8. Nosology and epidemiology in autism: classification counts.

    Science.gov (United States)

    Fisch, Gene S

    2012-05-15

    Since its initial description by Kanner in 1943, the criteria by which a diagnosis of autism or autism-like disorders was made--and their alleged etiologies portrayed--have undergone manifold changes, from a psychiatric disorder engendered by "refridgerator" parents to a neurodevelopmental disability produced in the main by genetic abnormalities. In addition, the behavioral characterization of autism has also entered the public consciousness and professional domains increasingly in the past 30 years, the effects of which we are continually coming to terms. A diagnosis of autism that once seemed quite unusual is now considered almost epidemic. Increasing numbers of individuals diagnosed with autism and related pervasive developmental disabilities will, in turn, affect the calculated prevalence of the disorder. In this essay, I attempt to account for the increasing prevalence of autism and autism-related disorders by examining its changing criteria, the individuals and instruments used to make the diagnosis, the reliability and validity of same, and the sample sizes and other aspects of the methodology needed to make an accurate estimate of its prevalence. PMID:22499526

  9. Kids' Quest: Autism

    Science.gov (United States)

    ... For... Parents / Educators National Center Homepage 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. Learning about Autism

    Science.gov (United States)

    ... Genetics 101 Genomic Medicine and Health Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics ... have idiopathic autism. Exposure during pregnancy to rubella (German ... for new environmental causes of secondary autism has centered primarily ...

  11. Biomarkers of replicative senescence revisited

    DEFF Research Database (Denmark)

    Nehlin, Jan

    2016-01-01

    of telomere length and associated damage, and the accompanying changes that take place elicit signals that have an impact on a number of molecules and downstream events. Precise measurements of replicative senescence biomarkers in biological samples from individuals could be clinically associated...

  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. Archaeal DNA replication.

    Science.gov (United States)

    Kelman, Lori M; Kelman, Zvi

    2014-01-01

    DNA replication is essential for all life forms. Although the process is fundamentally conserved in the three domains of life, bioinformatic, biochemical, structural, and genetic studies have demonstrated that the process and the proteins involved in archaeal DNA replication are more similar to those in eukaryal DNA replication than in bacterial DNA replication, but have some archaeal-specific features. The archaeal replication system, however, is not monolithic, and there are some differences in the replication process between different species. In this review, the current knowledge of the mechanisms governing DNA replication in Archaea is summarized. The general features of the replication process as well as some of the differences are discussed. PMID:25421597

  14. 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....

  15. AUTISM SPECTRUM DISORDERS (ASD)

    OpenAIRE

    Middha Akanksha; Kataria Sahil; Sandhu Premjeet; Kapoor Bhawna

    2011-01-01

    Autism or Autism Spectrum Disorders (ASD) is a serious neurological disorder affecting communication skills, social interactions, adaptability in an individual, and also causes dramatic changes in behavioral patterns. This condition typically lasts throughout one’s lifetime and affects both, children as well as adults. Research has shown a tenfold increase in autism cases over the past decade and still rising at an alarming pace. The origins of autism are not known even to modern science. Aut...

  16. Roses for Autism

    Science.gov (United States)

    Tomaino, Robert

    2011-01-01

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

  17. Refinement of variant selection for the LDL-C genetic risk score in the diagnosis of the polygenic form of clinical Familial Hypercholesterolemia and replication in samples from six countries

    Science.gov (United States)

    Futema, Marta; Shah, Sonia; Cooper, Jackie A; Li, KaWah; Whittall, Ros A; Sharifi, Mahtab; Goldberg, Olivia; Drogari, Euridiki; Mollaki, Vasiliki; Wiegman, Albert; Defesche, Joep; D’Agostino, Maria N; D’Angelo, Antonietta; Rubba, Paolo; Fortunato, Giuliana; Walus-Miarka, Małgorzata; Hegele, Robert A; Bamimore, Mary Aderayo; Durst, Ronen; Leitersdorf, Eran; Mulder, Monique T; Roeters van Lennep, Janine E; Sijbrands, Eric J G; Whittaker, John C; Talmud, Philippa J; Humphries, Steve E

    2016-01-01

    Background Familial Hypercholesterolemia (FH) is an autosomal-dominant disorder caused by mutations in one of three genes. In the 60% of patients who are mutation-negative we have recently shown that the clinical phenotype can be associated with an accumulation of common small-effect LDL-C-raising alleles using a 12-SNP score. The aims of the study were to improve the selection of SNPs, and to replicate the results in additional samples. Methods Receiver-operating characteristic curves were used to determine the optimum number of LDL-C SNPs. For replication analysis, we genotyped patients with a clinical diagnosis of FH from six countries for six LDL-C-associated alleles. We compared the weighted SNP score among patients with no confirmed mutation (FH/M-), those with a mutation (FH/M+), and controls from an UK population sample (WHII). Results Increasing the number of SNPs to 33 did not improve the ability of the score to discriminate between FH/M- and controls, while sequential removal of SNPs with smaller effects/lower frequency showed a weighted score of six SNPs performed as well as the 12-SNP score. Meta-analysis of the weighted 6-SNP score, based on polymorphisms in CELSR2, APOB, ABCG5/8, LDLR and APOE loci, in the independent FH/M- cohorts showed a consistently higher score in comparison to the WHII population (P95% likelihood of a polygenic explanation of their increased LDL-C. Conclusion A 6-SNP LDL-C score consistently distinguishes FH/M- patients from healthy subjects. The hypercholesterolemia in 88% of mutation-negative patients is likely to have a polygenic basis. PMID:25414277

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

    Directory of Open Access Journals (Sweden)

    Richard A. Klein

    2014-04-01

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

  19. Mimiviruses: Replication, Purification, and Quantification.

    Science.gov (United States)

    Abrahão, Jônatas Santos; Oliveira, Graziele Pereira; Ferreira da Silva, Lorena Christine; Dos Santos Silva, Ludmila Karen; Kroon, Erna Geessien; La Scola, Bernard

    2016-01-01

    The aim of this protocol is to describe the replication, purification, and titration of mimiviruses. These viruses belong to the Mimiviridae family, the first member of which was isolated in 1992 from a cooling tower water sample collected during an outbreak of pneumonia in a hospital in Bradford, England. In recent years, several new mimiviruses have been isolated from different environmental conditions. These giant viruses are easily replicated in amoeba of the Acanthamoeba genus, its natural host. Mimiviruses present peculiar features that make them unique viruses, such as the particle and genome size and the genome's complexity. The discovery of these viruses rekindled discussions about their origin and evolution, and the genetic and structural complexity opened up a new field of study. Here, we describe some methods utilized for mimiviruses replication, purification, and titration. © 2016 by John Wiley & Sons, Inc. PMID:27153385

  20. Configuring the autism epidemic

    DEFF Research Database (Denmark)

    Christensen, Fie Lund Lindegaard; Seeberg, Jens

    2017-01-01

    Autism has been described as an epidemic, but this claim is contested and may point to an awareness epidemic, i.e. changes in the definition of what autism is and more attention being invested in diagnosis leading to a rise in registered cases. The sex ratio of children diagnosed with autism...... is skewed in favour of boys, and girls with autism tend to be diagnosed much later than boys. Building and further developing the notion of ‘configuration’ of epidemics, this article explores the configuration of autism in Denmark, with a particular focus on the health system and social support to families...

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

    Science.gov (United States)

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

    2011-01-01

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

  2. Signs and Symptoms of Autism

    Science.gov (United States)

    ... content Start of Search Controls Search Form Controls Autism Cancel Submit Search The CDC CDC A-Z ... Z # Start of Search Controls Search Form Controls Autism Cancel Submit Search The CDC Autism Spectrum Disorder ( ...

  3. 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

  4. MOLECULAR REPLICATOR DYNAMICS

    OpenAIRE

    BÄRBEL M. R. STADLER; Stadler, Peter F

    2003-01-01

    Template-dependent replication at the molecular level is the basis of reproduction in nature. A detailed understanding of the peculiarities of the chemical reaction kinetics associated with replication processes is therefore an indispensible prerequisite for any understanding of evolution at the molecular level. Networks of interacting self-replicating species can give rise to a wealth of different dynamical phenomena, from competitive exclusion to permanent coexistence, from global stability...

  5. Self-replicating systems.

    Science.gov (United States)

    Clixby, Gregory; Twyman, Lance

    2016-05-01

    Over the past 25 years, there has been a surge of development in research towards self-replication and self-replicating systems. The interest in these systems relates to one of the most fundamental questions posed in all fields of science - How did life on earth begin? Investigating how the self-replication process evolved may hold the key to understanding the emergence and evolution of living systems and, ultimately, gain a clear insight into the origin of life on earth. This introductory review aims to highlight the fundamental prerequisites of self-replication along with the important research that has been conducted over the past few decades. PMID:27086507

  6. Anxiety symptoms in young people with autism spectrum disorder attending special schools:Associations with gender, adaptive functioning and autism symptomatology

    OpenAIRE

    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 cross-sectional study examined the association of gender, age, adaptive functioning and autism symptom severity with different caregiver-reported anxiety sympto...

  7. 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.

  8. AUTISM ON THE INTERNET

    OpenAIRE

    Vladimir TRAJKOVSKI

    2000-01-01

    The Internet as the world wide information system is a global information network that provides instantly communication between a million users through its services. The Internet can be used in any science discipline especially in medicine. The aim of this paper is to show the possibilities of Internet in studying all the aspects of autism syndrome, introducing the public with some web-sites which treats autism and presenting the one and only web-site in Macedonia called Autism-Macedonia. In ...

  9. Reward Processing in Autism

    OpenAIRE

    Scott-Van Zeeland, Ashley A.; DAPRETTO, MIRELLA; Ghahremani, Dara G.; Poldrack, Russell A.; Bookheimer, Susan Y.

    2010-01-01

    The social motivation hypothesis of autism posits that infants with autism do not experience social stimuli as rewarding, thereby leading to a cascade of potentially negative consequences for later development. While possible downstream effects of this hypothesis such as altered face and voice processing have been examined, there has not been a direct investigation of social reward processing in autism. Here we use functional magnetic resonance imaging to examine social and monetary rewarded ...

  10. Sample entropy of electro encephalogram for children with autism based on virtual driving game%基于虚拟开车环境的自闭症儿童脑电样本熵∗

    Institute of Scientific and Technical Information of China (English)

    雷敏; 孟光; 张文明; Nilanjan Sarkar

    2016-01-01

    自闭症谱系障碍是一种涉及感觉、情感、记忆、语言、智力、动作等认知功能和执行功能障碍的精神疾病。本文从神经工效学角度出发,用虚拟开车环境作为复杂多任务激励源将大脑系统与人体动作控制等有机地结合起来,通过对脑电信号的滑动平均样本熵分析来探索自闭症儿童在虚拟开车环境中的脑活动特征。研究发现不论是休息状态还是开车状态,自闭症患者的滑动平均样本熵总体上低于健康者,尤其在前额叶、颞叶、顶叶和枕叶功能区,表明自闭症儿童的行为适应性较低。不过,自闭症患者的开车状态与健康受试者的休息状态比较接近,表明虚拟开车环境或许有助于自闭症患者的干预治疗。此外,自闭症患者在颞叶区呈现显著性右半球优势性。本研究为进一步深入开展自闭症疾病的机理研究及其诊断、评估和干预等研究提供一种新的研究思路。%Autism spectrum disorder is a kind of mental disease which involves the disorders of the perception, emotion, mem-ory, language, intelligence, thinking, action, etc. The aim of this paper is to investigate the brain activity characteristics of the children with autism during complex environments by analyzing electroencephalogram (EEG) signals from the neuroergonomics perspective. The virtual driving environment as a complex multi-task source is used to organically con-nect brain systems with human motion control. The 14-channel EEG signals are obtained including the EEG baseline signals on a resting state (about 3 min) and the EEG activity signals during driving (about 5 min). The method of the shift average sample entropy is proposed to deal with EEG signals in the resting and the virtual driving environments. Considering the highly complex hyper-dimensional characteristics of EEG signals, the different embedding dimensions (such as 2 and 6 dimensions) are analyzed in the

  11. The PCSK6 gene is associated with handedness, the autism spectrum, and magical ideation in a non-clinical population.

    Science.gov (United States)

    Robinson, Kelsey J; Hurd, Peter L; Read, Silven; Crespi, Bernard J

    2016-04-01

    Common polymorphisms in the gene PCSK6, whose protein product mediates the development of brain and body asymmetry through the NODAL pathway, have recently been associated with handedness in three studies, making it a key candidate gene for understanding the developmental and expression of human lateralization. We tested the hypothesis that the PCSK6 VNTR polymorphism rs1053972 influences the expression of handedness and aspects of dimensional schizotypy and autism. For a sample of 709 healthy individuals, rs1053972 genotype was significantly associated with categorical measures of handedness, and with dimensional handedness in subsets of the population with high schizotypy and magical ideation or a lack of strong right-handedness. Both findings showed evidence of stronger or exclusive effects among females, compared to males. Genotypes of PCSK6 also showed significant sex-limited associations with magical ideation, a component of positive schizotypal cognition measured using the Schizotypal Personality Questionnaire, and total autism score, measured using the Autism Spectrum Quotient. These results partially replicate previous studies on effects of PCSK6 rs1053972 genetic variation on handedness phenotypes, link the PCSK6 gene with the dimensional expression of neurodevelopmental conditions in healthy individuals, and show that associations of this gene with handedness and psychological phenotypes exhibit evidence of sex-limited effects. PMID:26921480

  12. Multiple peer use of pivotal response training to increase social behaviors of classmates with autism: results from trained and untrained peers.

    OpenAIRE

    Pierce, K; Schreibman, L

    1997-01-01

    Two children with autism and 8 typical peers participated in a study designed to replicate an earlier finding of successful social-skills intervention for children with autism using peer-implemented pivotal response training (PRT) and to assess the effects of using multiple peer trainers on generalization of treatment effects. During training, peers were taught PRT strategies using didactic instruction, modeling, role playing, and feedback. After treatment, children with autism engaged in inc...

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

    OpenAIRE

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

    2009-01-01

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

  14. 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…

  15. 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.

  16. The Coherence of Autism

    Science.gov (United States)

    Hobson, R. Peter

    2014-01-01

    There is a growing body of opinion that we should view autism as fractionable into different, largely independent sets of clinical features. The alternative view is that autism is a coherent syndrome in which principal features of the disorder stand in intimate developmental relationship with each other. Studies of congenitally blind children…

  17. Autism and Dyslexia

    OpenAIRE

    Frith, Uta

    2013-01-01

    Autism and dyslexia are wrongly classified as childhood disorders: They are lifelong and therefore have to be studied in adults as well as in children. Individual variability is enormous, and, as a result, behavioral diagnosis remains problematic. The study of the underlying cognitive abilities in autism and dyslexia has acted as a gateway for the emergence of developmental cognitive neuroscience.

  18. Modeling DNA Replication.

    Science.gov (United States)

    Bennett, Joan

    1998-01-01

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

  19. Autism Spectrum Disorders in Iran

    Directory of Open Access Journals (Sweden)

    Mohammad Reza MOHAMMADI

    2011-12-01

    children referred to treatment and rehabilitation centers. Journal of Hamedan University of Medical Sciences 2006;13: 58-60.Jannati M. Epidemiology of autism in exceptional studentsin Mashhd. MA thesis in psychology of exceptionalchildren field. Islamic Azad University of Birjand; 2001.Mansouri M, Chalabianlou GR, Malekirad AA, MosadedAA. The comparison of factors affecting the theory of mind development in autistic and normal children. Arak Medical University Journal 2011; 13: 115-125.Salmanian M. Visual memory of shapes and face in children with ASDs as compared to normal children. MS thesis in cognitive psychology. Institute for cognitive science studies; 2010.22. Ghanizadeh A, Mohammadi MR, Sadeghiyeh T, Alavi Shooshtari A, Akhondzadeh S. Symptoms of Childrenwith Autism Spectrum Disorder, a Clinical Sample. Iran J Psychiatry 2009; 4: 165-169. Sasanfar R, Haddad SA, Tolouei A, Ghadami M, Yu D, Santangelo SL. Parental age increases the risk for autismin an Iranian population sample. Mol Autism 2010; 1:2.Abolfazli R, Mirbagheri SA, Zabihi AA, Abouzari M. Autism and Celiac Disease: Failure to Validate the Hypothesis of a Possible Link. Iranian Red Crescent Medical Journal 2009; 11: 442-444.Hamidi Nahrani M, Sedaei M, Fatahi J, Sarough Farahani S, Faghihzadeh S. Auditory brain stem responses in autistic children in comparison with normal children. Audiology 2008; 16: 16-22.Sheikhani A, Behnam H, Mohammadi MR, Noroozian M. Evaluation of Quantitative Electroencephalography in Children with Autistic Disorders in Various Conditions Based on Spectrogram. Iran J Psychiatry 2007; 3: 4-10.Niedermeyer E, Lopes da Silva F. Electroencephalography:Basic principles, clinical applications, and related fields,5th ed. Philadelphia: Lippincott Williams & Wilkins;2005.Sheikhani A, Behnam H, Mohammadi MR, Noroozian M, Mohammadi M. Detection of Abnormalities for Diagnosing of Children with Autism Disorders Using of Quantitative Electroencephalography Analysis. J MedSyst 2010.Noroozian M

  20. Abiotic self-replication.

    Science.gov (United States)

    Meyer, Adam J; Ellefson, Jared W; Ellington, Andrew D

    2012-12-18

    The key to the origins of life is the replication of information. Linear polymers such as nucleic acids that both carry information and can be replicated are currently what we consider to be the basis of living systems. However, these two properties are not necessarily coupled. The ability to mutate in a discrete or quantized way, without frequent reversion, may be an additional requirement for Darwinian evolution, in which case the notion that Darwinian evolution defines life may be less of a tautology than previously thought. In this Account, we examine a variety of in vitro systems of increasing complexity, from simple chemical replicators up to complex systems based on in vitro transcription and translation. Comparing and contrasting these systems provides an interesting window onto the molecular origins of life. For nucleic acids, the story likely begins with simple chemical replication, perhaps of the form A + B → T, in which T serves as a template for the joining of A and B. Molecular variants capable of faster replication would come to dominate a population, and the development of cycles in which templates could foster one another's replication would have led to increasingly complex replicators and from thence to the initial genomes. The initial genomes may have been propagated by RNA replicases, ribozymes capable of joining oligonucleotides and eventually polymerizing mononucleotide substrates. As ribozymes were added to the genome to fill gaps in the chemistry necessary for replication, the backbone of a putative RNA world would have emerged. It is likely that such replicators would have been plagued by molecular parasites, which would have been passively replicated by the RNA world machinery without contributing to it. These molecular parasites would have been a major driver for the development of compartmentalization/cellularization, as more robust compartments could have outcompeted parasite-ridden compartments. The eventual outsourcing of metabolic

  1. Stereotypes of autism.

    Science.gov (United States)

    Draaisma, Douwe

    2009-05-27

    In their landmark papers, both Kanner and Asperger employed a series of case histories to shape clinical insight into autistic disorders. This way of introducing, assessing and representing disorders has disappeared from today's psychiatric practice, yet it offers a convincing model of the way stereotypes may build up as a result of representations of autism. Considering that much of what society at large learns on disorders on the autism spectrum is produced by representations of autism in novels, TV-series, movies or autobiographies, it will be of vital importance to scrutinize these representations and to check whether or not they are, in fact, misrepresenting autism. In quite a few cases, media representations of talent and special abilities can be said to have contributed to a harmful divergence between the general image of autism and the clinical reality of the autistic condition. PMID:19528033

  2. Expressive Drawing Ability in Children with Autism

    Science.gov (United States)

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

    2013-01-01

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

  3. 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

    2015-03-01

    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

  4. Persistent HIV-1 replication during antiretroviral therapy

    Science.gov (United States)

    Martinez-Picado, Javier; Deeks, Steven G.

    2016-01-01

    Purpose of review The present review will highlight some of the recent findings regarding the capacity of HIV-1 to replicate during antiretroviral therapy (ART). Recent findings Although ART is highly effective at inhibiting HIV replication, it is not curative. Several mechanisms contribute to HIV persistence during ART, including HIV latency, immune dysfunction, and perhaps persistent low-level spread of the virus to uninfected cells (replication). The success in curing HIV will depend on efficiently targeting these three aspects. The degree to which HIV replicates during ART remains controversial. Most studies have failed to find any evidence of HIV evolution in blood, even with samples collected over many years, although a recent very intensive study of three individuals suggested that the virus population does shift, at least during the first few months of therapy. Stronger but still not definitive evidence for replication comes from a series of studies in which standard regimens were intensified with an integration inhibitor, resulting in changes in episomal DNA (blood) and cell-associated RNA (tissue). Limited drug penetration within tissues and the presence of immune sanctuaries have been argued as potential mechanisms allowing HIV to spread during ART. Mathematical models suggest that HIV replication and evolution is possible even without the selection of fully drug-resistant variants. As persistent HIV replication could have clinical consequences and might limit the efficacy of curative interventions, determining if HIV replicates during ART and why, should remain a key focus of the HIV research community. Summary Residual viral replication likely persists in lymphoid tissues, at least in a subset of individuals. Abnormal levels of immune activation might contribute to sustain virus replication. PMID:27078619

  5. Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?

    Science.gov (United States)

    Wilson, C Ellie; Murphy, Clodagh M; McAlonan, Grainne; Robertson, Dene M; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P Quinton; Gillan, Nicola; Ohlsen, J Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C; Murphy, Declan Gm

    2016-10-01

    It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x(2) = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered.

  6. Association of transcription factor gene LMX1B with autism.

    Directory of Open Access Journals (Sweden)

    Ismail Thanseem

    Full Text Available Multiple lines of evidence suggest a serotoninergic dysfunction in autism. The role of LMX1B in the development and maintenance of serotoninergic neurons is well known. In order to examine the role, if any, of LMX1B with autism pathophysiology, a trio-based SNP association study using 252 family samples from the AGRE was performed. Using pair-wise tagging method, 24 SNPs were selected from the HapMap data, based on their location and minor allele frequency. Two SNPs (rs10732392 and rs12336217 showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test. The haplotype AGCGTG also showed significant association (p = 0.008. Further, LMX1B mRNA expressions were studied in the postmortem brain tissues of autism subjects and healthy controls samples. LMX1B transcripts was found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p = 0.049. Our study suggests a possible role of LMX1B in the pathophysiology of autism. Based on previous reports, it is likely to be mediated through a seretoninergic mechanism. This is the first report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.

  7. Association of transcription factor gene LMX1B with autism.

    Science.gov (United States)

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

    2011-01-01

    Multiple lines of evidence suggest a serotoninergic dysfunction in autism. The role of LMX1B in the development and maintenance of serotoninergic neurons is well known. In order to examine the role, if any, of LMX1B with autism pathophysiology, a trio-based SNP association study using 252 family samples from the AGRE was performed. Using pair-wise tagging method, 24 SNPs were selected from the HapMap data, based on their location and minor allele frequency. Two SNPs (rs10732392 and rs12336217) showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test. The haplotype AGCGTG also showed significant association (p = 0.008). Further, LMX1B mRNA expressions were studied in the postmortem brain tissues of autism subjects and healthy controls samples. LMX1B transcripts was found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p = 0.049). Our study suggests a possible role of LMX1B in the pathophysiology of autism. Based on previous reports, it is likely to be mediated through a seretoninergic mechanism. This is the first report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.

  8. Hepatitis B virus replication

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Hepadnaviruses, including human hepatitis B virus (HBV), replicate through reverse transcription of an RNA intermediate, the pregenomic RNA (pgRNA). Despite this kinship to retroviruses, there are fundamental differences beyond the fact that hepadnavirions contain DNA instead of RNA. Most peculiar is the initiation of reverse transcription: it occurs by protein-priming, is strictly committed to using an RNA hairpin on the pgRNA,ε, as template, and depends on cellular chaperones;moreover, proper replication can apparently occur only in the specialized environment of intact nucleocapsids.This complexity has hampered an in-depth mechanistic understanding. The recent successful reconstitution in the test tube of active replication initiation complexes from purified components, for duck HBV (DHBV),now allows for the analysis of the biochemistry of hepadnaviral replication at the molecular level. Here we review the current state of knowledge at all steps of the hepadnaviral genome replication cycle, with emphasis on new insights that turned up by the use of such cellfree systems. At this time, they can, unfortunately,not be complemented by three-dimensional structural information on the involved components. However, at least for the s RNA element such information is emerging,raising expectations that combining biophysics with biochemistry and genetics will soon provide a powerful integrated approach for solving the many outstanding questions. The ultimate, though most challenging goal,will be to visualize the hepadnaviral reverse transcriptase in the act of synthesizing DNA, which will also have strong implications for drug development.

  9. Optimal Allocation of Replicates for Measurement Evaluation Studies

    Institute of Scientific and Technical Information of China (English)

    Stanislav O.Zakharkin; Kyoungmi Kim; Alfred A.Bartolucci; Grier P.Page; David B.Allison

    2006-01-01

    Optimal experimental design is important for the efficient use of modern highthroughput technologies such as microarrays and proteomics. Multiple factors including the reliability of measurement system, which itself must be estimated from prior experimental work, could influence design decisions. In this study, we describe how the optimal number of replicate measures (technical replicates) for each biological sample (biological replicate) can be determined. Different allocations of biological and technical replicates were evaluated by minimizing the variance of the ratio of technical variance (measurement error) to the total variance (sum of sampling error and measurement error). We demonstrate that if the number of biological replicates and the number of technical replicates per biological sample are variable, while the total number of available measures is fixed, then the optimal allocation of replicates for measurement evaluation experiments requires two technical replicates for each biological replicate. Therefore, it is recommended to use two technical replicates for each biological replicate if the goal is to evaluate the reproducibility of measurements.

  10. 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…

  11. 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

  12. Growing Through Innovation Replicability

    DEFF Research Database (Denmark)

    Hsuan, Juliana; Lévesque, Moren

    2012-01-01

    We propose a formal model of firm growth through replication that considers the extent of the investment to adapt routines as replication unfolds and the portion of this investment that goes toward innovation in the routines. The use of these two investment constructs brings about four types...... of growth policies. We use a utility function that considers proxies for both growth and failure potential to uncover the role played in selecting these policies by the economic environment of the targeted market for expansion. Our analysis further reveals the importance of the innovation...

  13. Autism-spectrum traits predict humor styles in the general population

    OpenAIRE

    Eriksson, Kimmo

    2013-01-01

    Previous research shows that individuals with Asperger syndrome or high-functioning autism tend to have impaired processing of humor and laugh at things that are not commonly found funny. Here the relationship between humor styles and the broader autism phenotype was investigated in a sample of the general population. The autism-spectrum quotient (AQ) and the humor styles questionnaire (HSQ) were administered to six hundred US participants recruited through an Internet-based service. On the w...

  14. [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.

  15. 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.

  16. Autism Data & Statistics

    Science.gov (United States)

    ... 2006-2008, ranging from mild disabilities such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities, cerebral palsy, and autism. [ Read summary ] Learn more about prevalence of ASD ...

  17. Advances in autism.

    Science.gov (United States)

    Geschwind, Daniel H

    2009-01-01

    Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic susceptibility locus accounting for only a small fraction of cases or having a small effect. Therefore, it is not surprising that no unifying structural or neuropathological features have been conclusively identified. Given the heterogeneity of autism spectrum disorder (ASD), approaches based on studying heritable components of the disorder, or endophenotypes, such as language or social cognition, provide promising avenues for genetic and neurobiological investigations. Early intensive behavioral and cognitive interventions are efficacious in many cases, but autism does not remit in the majority of children. Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research. PMID:19630577

  18. Autism Spectrum Disorder

    Science.gov (United States)

    Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. ... be known as Asperger syndrome and pervasive developmental disorders. It is called a "spectrum" disorder because people ...

  19. Anxiety in Children and Adolescents with Autism Spectrum Disorders

    OpenAIRE

    White, Susan W.; Oswald, Donald; Ollendick, Thomas; Scahill, Lawrence

    2009-01-01

    Anxiety and poor stress management are common concerns in clinical samples of children with autism spectrum disorders (ASD). Anxiety may worsen during adolescence, as young people face an increasingly complex social milieu and often become more aware of their differences and interpersonal difficulties. This review summarizes the state of research on the prevalence, phenomenology, and treatment of anxiety in youth with autism and related conditions such as Asperger’s disorder. Using search wor...

  20. 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…

  1. 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.

  2. Atypical Face Perception in Autism: A Point of View?

    Science.gov (United States)

    Morin, Karine; Guy, Jacalyn; Habak, Claudine; Wilson, Hugh R; Pagani, Linda; Mottron, Laurent; Bertone, Armando

    2015-10-01

    Face perception is the most commonly used visual metric of social perception in autism. However, when found to be atypical, the origin of face perception differences in autism is contentious. One hypothesis proposes that a locally oriented visual analysis, characteristic of individuals with autism, ultimately affects performance on face tasks where a global analysis is optimal. The objective of this study was to evaluate this hypothesis by assessing face identity discrimination with synthetic faces presented with and without changes in viewpoint, with the former condition minimizing access to local face attributes used for identity discrimination. Twenty-eight individuals with autism and 30 neurotypical participants performed a face identity discrimination task. Stimuli were synthetic faces extracted from traditional face photographs in both front and 20° side viewpoints, digitized from 37 points to provide a continuous measure of facial geometry. Face identity discrimination thresholds were obtained using a two-alternative, temporal forced choice match-to-sample paradigm. Analyses revealed an interaction between group and condition, with group differences found only for the viewpoint change condition, where performance in the autism group was decreased compared to that of neurotypical participants. The selective decrease in performance for the viewpoint change condition suggests that face identity discrimination in autism is more difficult when access to local cues is minimized, and/or when dependence on integrative analysis is increased. These results lend support to a perceptual contribution of atypical face perception in autism. PMID:25683613

  3. Relationship satisfaction and mental health of parents of children with autism: A comparison of autism, ADHD, and normative children

    OpenAIRE

    Tarabek, Jessica

    2011-01-01

    This research compares the relationship satisfaction and mental health of parents of children diagnosed with Autism or Autism Spectrum Disorders (ASD) to parents of children with Attention Deficit Hyperactivity Disorder (ADHD) or Attention Deficit Disorder (ADD) and parents of normative children. The analytical sample was obtained from the 2007 National Survey of Childrenâ s Health, and ANOVA statistical procedures were used to analyze the data. Results indicate that significant difference...

  4. 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…

  5. Environmental risk factors for autism

    OpenAIRE

    Dietert, Rodney R.; Janice M. Dietert; DeWitt, Jamie C.

    2011-01-01

    Autism is a devastating childhood condition that has emerged as an increasing social concern just as it has increased in prevalence in recent decades. Autism and the broader category of autism spectrum disorders are among the increasingly seen examples in which there is a fetal basis for later disease or disorder. Environmental, genetic, and epigenetic factors all play a role in determining the risk of autism and some of these effects appear to be transgenerational. Identification of the most...

  6. Autism Symptoms and Internalizing Psychopathology in Girls and Boys with Autism Spectrum Disorders

    OpenAIRE

    Solomon, Marjorie; Miller, Meghan; Taylor, Sandra L.; Hinshaw, Stephen P.; Carter, Cameron S.

    2011-01-01

    Findings regarding phenotypic differences between boys and girls with ASD are mixed. We compared autism and internalizing symptoms in a sample of 8-18 year-old girls (n = 20) and boys (n = 20) with ASD and typically developing (TYP) girls (n = 19) and boys (n = 17). Girls with ASD were more impaired than TYP girls but did not differ from boys with ASD in autism symptoms. In adolescence, girls with ASD had higher internalizing symptoms than boys with ASD and TYP girls, and higher symptoms of d...

  7. The Broad Autism Phenotype Questionnaire

    Science.gov (United States)

    Hurley, Robert S. E.; Losh, Molly; Parlier, Morgan; Reznick, J. Steven; Piven, Joseph

    2007-01-01

    The broad autism phenotype (BAP) is a set of personality and language characteristics that reflect the phenotypic expression of the genetic liability to autism, in non-autistic relatives of autistic individuals. These characteristics are milder but qualitatively similar to the defining features of autism. A new instrument designed to measure the…

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

    OpenAIRE

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

    2012-01-01

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

  9. [Current status of autism studies].

    Science.gov (United States)

    Kurita, H

    2001-01-01

    The current status of autism studies was reviewed based on English articles published during the 1990s. Although the concepts of autism and pervasive developmental disorders (PDD) are established, diagnostic criteria of PDDNOS or atypical autism, which is frequently difficult to differentiate from autism, need to be established. The prevalence of autism has been estimated as about 0.05% in the U.S and many European countries, while it was reported to be 0.1% or higher in Japan and some European countries, though the reasons for this difference are unclear. High-functioning (IQ > or = 70) autism may not be as rare a condition as previously thought and both its difference from and similarity to Asperger's syndrome, the highest functioning PDD subtype, need clarification. About 20 to 40% of children with autism lose meaningful words by the age of 2 years and display autistic symptoms thereafter. Such autism, called the setback type in Japan, has been demonstrated to have a poorer adolescent/adult outcome compared to autism without setback and its relationship with childhood disintegrative disorder, which displays a clearer regression after normal development for at least the first 2 years of life, needs to be addressed. The etiology of autism is now considered mostly genetic for reasons, such as the significantly higher concordance rate of autism in identical twin pairs (60-80%) than in fraternal twin pairs (0-10%) and an 3-5% incidence of autism among sibs of an autism proband, 30 to 100 times higher than that in the general population. The involvement of several genes is implicated to create susceptibility for autism, yet the responsible genes have not been identified. Although there is no medication to cure autism, some psychotropic drugs, such as antipsychotics and SSRIs, seem effective for behavior problems in autism patients. Psychosocial treatments are the main therapeutic approach to autism, though they are yet to be well systematized. It is important to

  10. Reasoning on the Autism Spectrum: A Dual Process Theory Account.

    Science.gov (United States)

    Brosnan, Mark; Lewton, Marcus; Ashwin, Chris

    2016-06-01

    Dual process theory proposes two distinct reasoning processes in humans, an intuitive style that is rapid and automatic and a deliberative style that is more effortful. However, no study to date has specifically examined these reasoning styles in relation to the autism spectrum. The present studies investigated deliberative and intuitive reasoning profiles in: (1) a non-clinical sample from the general population with varying degrees of autism traits (n = 95), and (2) males diagnosed with ASD (n = 17) versus comparisons (n = 18). Taken together, the results suggest reasoning on the autism spectrum is compatible with the processes proposed by Dual Process Theory and that higher autism traits and ASD are characterised by a consistent bias towards deliberative reasoning (and potentially away from intuition).

  11. Stimulus Overselectivity in Autism, Down Syndrome, and Typical Development.

    Science.gov (United States)

    Dube, William V; Farber, Rachel S; Mueller, Marlana R; Grant, Eileen; Lorin, Lucy; Deutsch, Curtis K

    2016-05-01

    Stimulus overselectivity refers to maladaptive narrow attending that is a common learning problem among children with intellectual disabilities and frequently associated with autism. The present study contrasted overselectivity among groups of children with autism, Down syndrome, and typical development. The groups with autism and Down syndrome were matched for intellectual level, and all three groups were matched for developmental levels on tests of nonverbal reasoning and receptive vocabulary. Delayed matching-to-sample tests presented color/form compounds, printed words, photographs of faces, Mayer-Johnson Picture Communication Symbols, and unfamiliar black forms. No significant differences among groups emerged for test accuracy scores. Overselectivity was not statistically overrepresented among individuals with autism in contrast to those with Down syndrome or typically developing children.

  12. Stimulus Overselectivity in Autism, Down Syndrome, and Typical Development.

    Science.gov (United States)

    Dube, William V; Farber, Rachel S; Mueller, Marlana R; Grant, Eileen; Lorin, Lucy; Deutsch, Curtis K

    2016-05-01

    Stimulus overselectivity refers to maladaptive narrow attending that is a common learning problem among children with intellectual disabilities and frequently associated with autism. The present study contrasted overselectivity among groups of children with autism, Down syndrome, and typical development. The groups with autism and Down syndrome were matched for intellectual level, and all three groups were matched for developmental levels on tests of nonverbal reasoning and receptive vocabulary. Delayed matching-to-sample tests presented color/form compounds, printed words, photographs of faces, Mayer-Johnson Picture Communication Symbols, and unfamiliar black forms. No significant differences among groups emerged for test accuracy scores. Overselectivity was not statistically overrepresented among individuals with autism in contrast to those with Down syndrome or typically developing children. PMID:27119213

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

    Directory of Open Access Journals (Sweden)

    Aisha J L Munk

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

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

    Science.gov (United States)

    Munk, Aisha J. L.; Hermann, Andrea; El Shazly, Jasmin; Grant, Phillip; Hennig, Jürgen

    2016-01-01

    Background 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. Method 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 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. Conclusion 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. PMID:27015428

  15. Autism Advocacy: A Network Striving for Equity

    Science.gov (United States)

    Itkonen, Tiina; Ream, Robert

    2013-01-01

    In this exploratory case study, we examine the rise of autism on the policy agenda and the new generation of autism advocacy. We focus especially on interconnections between the rhetoric about autism in the media and the emergence and political effectiveness of Autism Speaks, the nation's largest autism advocacy group. We portray how…

  16. Campus Values in Mate Selection: A Replication

    Science.gov (United States)

    Hudson, John W.; Henze, lura F.

    1969-01-01

    Replicates research by Hill (1939) and McGinnis (1956) through use of questionnaire with random sample on four campuses. Concludes that values expressed currently and a generation ago show remarkable consistency. Revised version of paper presented at Rocky Muntain Social Science Association, Denver, Colorado, 1968. (CJ)

  17. The replication of expansive production knowledge

    DEFF Research Database (Denmark)

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

    2012-01-01

    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...

  18. Chromatin replication and epigenome maintenance

    DEFF Research Database (Denmark)

    Alabert, Constance; Groth, Anja

    2012-01-01

    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...

  19. Immunological findings in autism.

    Science.gov (United States)

    Cohly, Hari Har Parshad; Panja, Asit

    2005-01-01

    The immunopathogenesis of autism is presented schematically in Fig. 1. Two main immune dysfunctions in autism are immune regulation involving pro-inflammatory cytokines and autoimmunity. Mercury and an infectious agent like the measles virus are currently two main candidate environmental triggers for immune dysfunction in autism. Genetically immune dysfunction in autism involves the MHC region, as this is an immunologic gene cluster whose gene products are Class I, II, and III molecules. Class I and II molecules are associated with antigen presentation. The antigen in virus infection initiated by the virus particle itself while the cytokine production and inflammatory mediators are due to the response to the putative antigen in question. The cell-mediated immunity is impaired as evidenced by low numbers of CD4 cells and a concomitant T-cell polarity with an imbalance of Th1/Th2 subsets toward Th2. Impaired humoral immunity on the other hand is evidenced by decreased IgA causing poor gut protection. Studies showing elevated brain specific antibodies in autism support an autoimmune mechanism. Viruses may initiate the process but the subsequent activation of cytokines is the damaging factor associated with autism. Virus specific antibodies associated with measles virus have been demonstrated in autistic subjects. Environmental exposure to mercury is believed to harm human health possibly through modulation of immune homeostasis. A mercury link with the immune system has been postulated due to the involvement of postnatal exposure to thimerosal, a preservative added in the MMR vaccines. The occupational hazard exposure to mercury causes edema in astrocytes and, at the molecular level, the CD95/Fas apoptotic signaling pathway is disrupted by Hg2+. Inflammatory mediators in autism usually involve activation of astrocytes and microglial cells. Proinflammatory chemokines (MCP-1 and TARC), and an anti-inflammatory and modulatory cytokine, TGF-beta1, are consistently

  20. An Evaluation of Choice on Instructional Efficacy and Individual Preferences among Children with Autism

    Science.gov (United States)

    Toussaint, Karen A.; Kodak, Tiffany; Vladescu, Jason C.

    2016-01-01

    The current study compared the differential effects of choice and no-choice reinforcement conditions on skill acquisition. In addition, we assessed preference for choice-making opportunities with 3 children with autism, using a modified concurrent-chains procedure. We replicated the experiment with 2 participants. The results indicated that…

  1. 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…

  2. 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.

  3. 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…

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

    Science.gov (United States)

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

    2015-01-01

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

  5. Broader Autism Phenotype and Nonverbal Sensitivity: Evidence for an Association in the General Population

    Science.gov (United States)

    Ingersoll, Brooke

    2010-01-01

    This study examined the relationship between characteristics of the Broader Autism Phenotype (BAP) and nonverbal sensitivity, the ability to interpret nonverbal aspects of communication, in a non-clinical sample of college students. One hundred and two participants completed a self-report measure of the BAP, the Autism Spectrum Quotient (AQ), and…

  6. 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…

  7. Preparing Adapted Physical Educators to Teach Students with Autism: Current Practices and Future Directions

    Science.gov (United States)

    Healy, Sean; Judge, Joann P.; Block, Martin E.; Kwon, Eun Hye

    2016-01-01

    For many students with autism spectrum disorder, physical education is the responsibility of an adapted physical education specialist. In this study, we examined the training focused on teaching students with autism spectrum disorder received by a sample of 106 adapted physical education specialists. Competencies necessary on a course to train…

  8. 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…

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

    Science.gov (United States)

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

    2012-01-01

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

  10. Children with Autism Spectrum Disorders Who Do Not Develop Phrase Speech in the Preschool Years

    Science.gov (United States)

    Norrelgen, Fritjof; Fernell, Elisabeth; Eriksson, Mats; Hedvall, Asa; Persson, Clara; Sjölin, Maria; Gillberg, Christopher; Kjellmer, Liselotte

    2015-01-01

    There is uncertainty about the proportion of children with autism spectrum disorders who do not develop phrase speech during the preschool years. The main purpose of this study was to examine this ratio in a population-based community sample of children. The cohort consisted of 165 children (141 boys, 24 girls) with autism spectrum disorders aged…

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

    Science.gov (United States)

    Zablotsky, Benjamin; Anderson, Connie; Law, Paul

    2013-01-01

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

  12. 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…

  13. 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).…

  14. 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...

  15. 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…

  16. The replication of expansive production knowledge

    DEFF Research Database (Denmark)

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

    2012-01-01

    ; and (2) rather than being viewed as alternative approaches, templates and principles should be seen as complementary once the transfer motive moves beyond pure replication. Research limitations – The concepts introduced in this paper were derived from two Danish cases. While acceptable for theory...... 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...

  17. 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.)

  18. Neuroimaging of autism

    International Nuclear Information System (INIS)

    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.)

  19. 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.

  20. 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......-sex interaction relevant to Long alleles (more than 37 repeats). The different findings in Denmark and Italy suggest that gene/longevity associations are population-specific, and heavily affected by the population-specific genetic and environmental history....

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

    Science.gov (United States)

    Blackmon, Karen; Ben-Avi, Emma; Wang, Xiuyuan; Pardoe, Heath R.; Di Martino, Adriana; Halgren, Eric; Devinsky, Orrin; Thesen, Thomas; Kuzniecky, Ruben

    2015-01-01

    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. PMID:26693400

  2. 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.

  3. Autism in Angelman syndrome: implications for autism research.

    Science.gov (United States)

    Peters, S U; Beaudet, A L; Madduri, N; Bacino, C A

    2004-12-01

    Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, ataxia, and a happy/sociable disposition. Maternally, but not paternally, derived defects, such as duplications, within the AS critical region result in autistic symptomatology, suggesting that the UBE3A gene might be implicated in the causation of autism. This study examined the prevalence of autism in AS in 19 children representing three known molecular classes of AS. Children were studied over the course of 1 year. Forty-two percent of this population, eight of 19 children, met criteria for autism according to the Autism Diagnostic Observation Schedule (ADOS). Parents of children who were diagnosed with autism according to Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV criteria as well as the ADOS - Generic, Module 1 (ADOS-G) were administered the Autism Diagnostic Interview - Revised (ADI-R). Data from the ADI-R were convergent with data from the ADOS-G in all cases. Children with comorbid autism and AS scored lower on measures of language, adaptive behavior, and cognition, and demonstrated a slower rate of improvement over the course of the study. Furthermore, they demonstrated deficits in communication and socialization that mirror those observed in children with idiopathic autism. The study highlights the phenotypic overlap between autism and AS and increases the probability that dysregulation of UBE3A may play a role in the causation of autism.

  4. Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population.

    Science.gov (United States)

    Li, Jun; You, Yang; Yue, Weihua; Yu, Hao; Lu, Tianlan; Wu, Zhiliu; Jia, Meixiang; Ruan, Yanyan; Liu, Jing; Zhang, Dai; Wang, Lifang

    2016-01-01

    Autism spectrum disorder (ASD) is a group of severe neurodevelopmental disorders. Epigenetic factors play a critical role in the etiology of ASD. Enhancer of zest homolog 2 (EZH2), which encodes a histone methyltransferase, plays an important role in the process of chromatin remodeling during neurodevelopment. Further, EZH2 is located in chromosome 7q35-36, which is one of the linkage regions for autism. However, the genetic relationship between autism and EZH2 remains unclear. To investigate the association between EZH2 and autism in Chinese Han population, we performed a family-based association study between autism and three tagged single nucleotide polymorphisms (SNPs) that covered 95.4% of the whole region of EZH2. In the discovery cohort of 239 trios, two SNPs (rs740949 and rs6464926) showed a significant association with autism. To decrease false positive results, we expanded the sample size to 427 trios. A SNP (rs6464926) was significantly associated with autism even after Bonferroni correction (p=0.008). Haplotype G-T (rs740949 and rs6464926) was a risk factor for autism (Z=2.655, p=0.008, Global p=0.024). In silico function prediction for SNPs indicated that these two SNPs might be regulatory SNPs. Expression pattern of EZH2 showed that it is highly expressed in human embryonic brains. In conclusion, our findings demonstrate that EZH2 might contribute to the genetic etiology of autism in Chinese Han population.

  5. 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. PMID:26408632

  6. Biological sex affects the neurobiology of autism

    OpenAIRE

    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

    2013-01-01

    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 stu...

  7. Defining Key Features of the Broad Autism Phenotype

    Science.gov (United States)

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

    2009-01-01

    This study examined the frequency of personality, language, and social-behavioral characteristics believed to comprise the broad autism phenotype (BAP), across families differing in genetic liability to autism. We hypothesized that within this unique sample comprised of multiple-incidence autism families (MIAF), single-incidence autism families (SIAF), and control Down syndrome families (DWNS), a graded expression would be observed for the principal characteristics conferring genetic susceptibility to autism, in which such features would express most profoundly among parents from MIAFs, less strongly among SIAFs, and least of all among comparison parents from DWNS families, who should display population base rates. Analyses detected linear expression of traits in line with hypotheses, and further suggested differential intrafamilial expression across family types. In the vast majority of MIAFs both parents displayed BAP characteristics, whereas within SIAFs, it was equally likely that one, both, or neither parent show BAP features. The significance of these findings is discussed in relation to etiologic mechanisms in autism and relevance to molecular genetic studies. PMID:17948871

  8. 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.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  10. 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…

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

    Science.gov (United States)

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

    2015-11-01

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

  12. Ordered-subset analysis of savant skills in autism for 15q11-q13.

    Science.gov (United States)

    Ma, D Q; Jaworski, J; Menold, M M; Donnelly, S; Abramson, R K; Wright, H H; Delong, G R; Gilbert, J R; Pericak-Vance, M A; Cuccaro, Michael L

    2005-05-01

    Autism is a complex disorder characterized by genetic and phenotypic heterogeneity. Analysis of phenotypically homogeneous subtypes has been used to both confirm and narrow potential autism linkage regions such as the chromosomal region 15q11-q13. Increased evidence for linkage in this region had been found in a subgroup of 21 autism families (total families = 94) stratified based on a savant skill factor (SSF) from the Autism Diagnostic Interview, Revised (ADI-R). We examined the savant phenotypic finding in our sample of 91 multiplex autism families. Using two-point parametric analysis in stratification with a cutoff point of a savant skill score of 0.16, our families failed to demonstrate linkage to 15q11-q13. In addition, ordered subset analysis (OSA) using SSF as a covariate also failed to show evidence for linkage. Our findings do not support savant skills as an informative phenotypic subset for linkage in our sample.

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

    Science.gov (United States)

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

    2008-06-01

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

  14. 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

  15. Deafness and Autism

    Science.gov (United States)

    Morton, Diane D.

    2008-01-01

    At the most basic level, autism is a neurological disorder that most likely involves a distinct abnormality in brain structure and affects a child's abilities in two areas: communication and social development. It also is marked by repetitive or stereotypical behavior. Because of the variability in the causes of deafness as well as…

  16. 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.

  17. Autism and sleep disorders

    Directory of Open Access Journals (Sweden)

    Preeti A Devnani

    2015-01-01

    Full Text Available “Autism Spectrum Disorders” (ASDs are neurodevelopment disorders and are characterized by persistent impairments in reciprocal social interaction and communication. Sleep problems in ASD, are a prominent feature that have an impact on social interaction, day to day life, academic achievement, and have been correlated with increased maternal stress and parental sleep disruption. Polysomnography studies of ASD children showed most of their abnormalities related to rapid eye movement (REM sleep which included decreased quantity, increased undifferentiated sleep, immature organization of eye movements into discrete bursts, decreased time in bed, total sleep time, REM sleep latency, and increased proportion of stage 1 sleep. Implementation of nonpharmacotherapeutic measures such as bedtime routines and sleep-wise approach is the mainstay of behavioral management. Treatment strategies along with limited regulated pharmacotherapy can help improve the quality of life in ASD children and have a beneficial impact on the family. PubMed search was performed for English language articles from January 1995 to January 2015. Following key words: Autism spectrum disorder, sleep disorders and autism, REM sleep and autism, cognitive behavioral therapy, sleep-wise approach, melatonin and ASD were used. Only articles reporting primary data relevant to the above questions were included.

  18. 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…

  19. 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.

  20. 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. PMID:20375530

  1. Sensational Stars with Autism

    Science.gov (United States)

    Simmons, Karen; Miller, Lucy Jane

    2008-01-01

    Sensory processing refers to the way the brain takes incoming sensory messages, converts them into meaningful messages, then makes a response. If the responses are disorganized or inappropriate given the sensory input, sensory processing disorder (SPD) may co-exist with autism. If a child has an occasional atypical response to sensation, he or she…

  2. 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. PMID:25277283

  3. Replicated Spectrographs in Astronomy

    CERN Document Server

    Hill, Gary J

    2014-01-01

    As telescope apertures increase, the challenge of scaling spectrographic astronomical instruments becomes acute. The next generation of extremely large telescopes (ELTs) strain the availability of glass blanks for optics and engineering to provide sufficient mechanical stability. While breaking the relationship between telescope diameter and instrument pupil size by adaptive optics is a clear path for small fields of view, survey instruments exploiting multiplex advantages will be pressed to find cost-effective solutions. In this review we argue that exploiting the full potential of ELTs will require the barrier of the cost and engineering difficulty of monolithic instruments to be broken by the use of large-scale replication of spectrographs. The first steps in this direction have already been taken with the soon to be commissioned MUSE and VIRUS instruments for the Very Large Telescope and the Hobby-Eberly Telescope, respectively. MUSE employs 24 spectrograph channels, while VIRUS has 150 channels. We compa...

  4. 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.

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

    Science.gov (United States)

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

    2016-01-01

    Subclinical variants of the social-communicative challenges and rigidity that define autism spectrum disorder (ASD) are known as the broader autism phenotype (BAP). The BAP has been conceptualized categorically (as specific to a subset of relatives of individuals with ASD) and dimensionally (as continuously distributed within the general population). The current study examined the compatibility of these two approaches by assessing associations among autism symptoms and social-communicative skills in young school-age children with ASD, children who have a sibling with ASD, and children without a sibling with ASD. Autism symptoms were associated with reduced Theory of Mind (ToM), adaptive skills, cognitive empathy, and language skills across the full sample. Reduced ToM was a core aspect of the BAP in the current sample regardless of whether the BAP was defined categorically (in terms of siblings of children with ASD who exhibited atypical developmental) or dimensionally (in terms of associations with autism symptoms across the entire sample). Early language skills predicted school-age ToM. Findings support the compatibility of categorical and dimensional approaches to the BAP, highlight reduced ToM as a core aspect of the school-age BAP, and suggest that narrative-based approaches to promoting ToM may be beneficial for siblings of children with ASD. PMID:26881074

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

    Science.gov (United States)

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

    2016-01-01

    Subclinical variants of the social-communicative challenges and rigidity that define autism spectrum disorder (ASD) are known as the broader autism phenotype (BAP). The BAP has been conceptualized categorically (as specific to a subset of relatives of individuals with ASD) and dimensionally (as continuously distributed within the general population). The current study examined the compatibility of these two approaches by assessing associations among autism symptoms and social-communicative skills in young school-age children with ASD, children who have a sibling with ASD, and children without a sibling with ASD. Autism symptoms were associated with reduced Theory of Mind (ToM), adaptive skills, cognitive empathy, and language skills across the full sample. Reduced ToM was a core aspect of the BAP in the current sample regardless of whether the BAP was defined categorically (in terms of siblings of children with ASD who exhibited atypical developmental) or dimensionally (in terms of associations with autism symptoms across the entire sample). Early language skills predicted school-age ToM. Findings support the compatibility of categorical and dimensional approaches to the BAP, highlight reduced ToM as a core aspect of the school-age BAP, and suggest that narrative-based approaches to promoting ToM may be beneficial for siblings of children with ASD. PMID:26881074

  7. 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.

  8. 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.

  9. 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....

  10. A computational perspective on autism

    OpenAIRE

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

    2015-01-01

    Autism is a pervasive disorder that broadly impacts perceptual, cognitive, social, and motor functioning. Across individuals, the disorder manifests with a large degree of phenotypic diversity. Here, we propose that autism symptomatology reflects alterations in neural computation. Using neural network simulations, we show that a reduction in the amount of inhibition occurring through a computation called divisive normalization can account for perceptual consequences reported in autism, as wel...

  11. 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.

  12. Microcephaly and Macrocephaly in Autism.

    Science.gov (United States)

    Fombonne, Eric; Roge, Bernadette; Claverie, Jacques; Courty, Stephanie; Fremolle, Jeanne

    1999-01-01

    Analysis of data from 126 children with autism found macrocephaly (head circumstance microcephaly (head circumference Microcephaly was significantly associated with the presence of medical disorders. (Author/DB)

  13. Psychometric properties of the STAT for early autism screening.

    Science.gov (United States)

    Stone, Wendy L; Coonrod, Elaine E; Turner, Lauren M; Pozdol, Stacie L

    2004-12-01

    The STAT is an interactive screening measure for autism that assesses behaviors in the areas of play, communication, and imitation skills. In Study 1, signal detection procedures were employed to identify a cutoff score for the STAT using developmentally matched groups of 2-year-old children with autism and with nonspectrum disorders. The resulting cutoff yielded high sensitivity, specificity, and predictive values for the development sample as well as for an independent validation sample. Study 2 examined psychometric properties of the STAT and revealed acceptable levels of interrater agreement, test-retest reliability, and agreement between STAT risk category and ADOS-G classification. The STAT demonstrates strong psychometric properties and shows promising utility as a Level 2 screening measure for autism.

  14. 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…

  15. A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.

    Science.gov (United States)

    Connolly, John J; Glessner, Joseph T; Hakonarson, Hakon

    2013-01-01

    Efforts to understand the causes of autism spectrum disorders (ASDs) have been hampered by genetic complexity and heterogeneity among individuals. One strategy for reducing complexity is to target endophenotypes, simpler biologically based measures that may involve fewer genes and constitute a more homogenous sample. A genome-wide association study of 2,165 participants (mean age = 8.95 years) examined associations between genomic loci and individual assessment items from the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale. Significant associations with a number of loci were identified, including KCND2 (overly serious facial expressions), NOS2A (loss of motor skills), and NELL1 (faints, fits, or blackouts). These findings may help prioritize directions for future genomic efforts. PMID:22935194

  16. Association of MET with social and communication phenotypes in individuals with autism spectrum disorder.

    Science.gov (United States)

    Campbell, Daniel B; Warren, Dana; Sutcliffe, James S; Lee, Evon Batey; Levitt, Pat

    2010-03-01

    Autism is a complex neurodevelopmental disorder diagnosed by impairments in social interaction, communication, and behavioral flexibility. Autism is highly heritable, but it is not known whether a genetic risk factor contributes to all three core domains of the disorder or autism results from the confluence of multiple genetic risk factors for each domain. We and others reported previously association of variants in the gene encoding the MET receptor tyrosine kinase in five independent samples. We further described enriched association of the MET promoter variant rs1858830 C allele in families with co-occurring autism and gastrointestinal conditions. To test the contribution of this functional MET promoter variant to the domains of autism, we analyzed its association with quantitative scores derived from three instruments used to diagnose and describe autism phenotypes: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS), and both the parent and the teacher report forms of the Social Responsiveness Scale (SRS). In 748 individuals from 367 families, the transmission of the MET C allele from parent to child was consistently associated with both social and communication phenotypes of autism. Stratification by gastrointestinal conditions revealed a similar pattern of association with both social and communication phenotypes in 242 individuals with autism from 118 families with co-occurring gastrointestinal conditions, but a lack of association with any domain in 181 individuals from 96 families with ASD and no co-occurring gastrointestinal condition. These data indicate that the MET C allele influences at least two of the three domains of the autism triad. PMID:19548256

  17. Hyperbaric oxygen therapy for treatment of children with autism: a systematic review of randomized trials.

    Science.gov (United States)

    Ghanizadeh, Ahmad

    2012-01-01

    There is a controversy about the efficacy of hyperbaric oxygen (HBO) therapy for the treatment of autism. This study systematically reviews the current evidences for treating of autism with HBO therapy. According to PRISMA guidelines for a systematic review, the databases of MEDLINE/Pubmed, Google Scholar, and Randomised Controlled Trials in Hyperbaric Medicine were electronically searched. In addition, medical subject heading terms and text words for hyperbaric oxygen therapy and autism were used. The main inclusion criteria were published studies which reported the original data from the trials conducted on the patients with autism and assessed outcomes with a valid and reliable instrument. A quality assessment was also conducted. The electronically search resulted in 18 title of publications. Two studies were randomized, double-blind, controlled-clinical trials. While some uncontrolled and controlled studies suggested that HBO therapy is effective for the treatment of autism, these promising effects are not replicated. Therefore, sham-controlled studies with rigorous methodology are required to be conducted in order to provide scientific evidence-based HBO therapy for autism treatment. PMID:22577817

  18. Hyperbaric oxygen therapy for treatment of children with autism: a systematic review of randomized trials

    Directory of Open Access Journals (Sweden)

    Ghanizadeh Ahmad

    2012-05-01

    Full Text Available Abstract There is a controversy about the efficacy of hyperbaric oxygen (HBO therapy for the treatment of autism. This study systematically reviews the current evidences for treating of autism with HBO therapy. According to PRISMA guidelines for a systematic review, the databases of MEDLINE/Pubmed, Google Scholar, and Randomised Controlled Trials in Hyperbaric Medicine were electronically searched. In addition, medical subject heading terms and text words for hyperbaric oxygen therapy and autism were used. The main inclusion criteria were published studies which reported the original data from the trials conducted on the patients with autism and assessed outcomes with a valid and reliable instrument. A quality assessment was also conducted. The electronically search resulted in 18 title of publications. Two studies were randomized, double-blind, controlled-clinical trials. While some uncontrolled and controlled studies suggested that HBO therapy is effective for the treatment of autism, these promising effects are not replicated. Therefore, sham-controlled studies with rigorous methodology are required to be conducted in order to provide scientific evidence-based HBO therapy for autism treatment.

  19. Brady, Our Firstborn Son, Has Autism

    Science.gov (United States)

    Yeh-Kennedy, Mei

    2008-01-01

    Autism awareness is spreading like wildfire. Diagnoses have increased at an astounding rate. The statistic most often quoted is that 1 child in 150 has autism. As if the high rate of autism diagnoses were not worrisome enough, many doctors are not properly trained, or kept up to date, on how to detect autism at the earliest possible age. In many…

  20. Silent auction to benefit local autism services

    OpenAIRE

    Doss, Catherine

    2006-01-01

    "An Evening at the XYZ Gallery: Giving a Voice to Autism" will be held Wednesday, May 3 from 6 to 8:30 p.m. at the XYZ Gallery at 223 North Main Street in Blacksburg. Proceeds from the event will benefit the Virginia Tech Autism Clinic, the Radford University Autism Center, and the Blue Ridge Autism Center.

  1. 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,…

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

    Directory of Open Access Journals (Sweden)

    Michele M. Becker

    2012-03-01

    Full Text Available OBJECTIVE: To translate into Brazilian Portuguese the Autism Diagnostic Interview-Revised (ADI-R, an extremely useful diagnostic tool in autism. METHODS: A case-control study was done to validate the ADI-R. After being translated, the interview was applied in a sample of 20 patients with autism and 20 patients with intellectual disability without autism, in order to obtain the initial psychometric properties. RESULTS: The internal consistency was high, with a of Crombach of 0.967. The validity of criterion had sensitivity and specificity of 100%, having as a gold standard the DSM-IV diagnostic criteria. The interview had high discriminant validity, with higher scores in the group of patients with autism, as well as high interobserver consistency, with median kappa of 0.824. CONCLUSION: The final version of ADI-R had satisfactory psychometric characteristics, indicating good preliminary validation properties. The instrument needs to be applied in bigger samples in other areas of the country.

  3. The Autism-Spectrum Quotient and Visual Search: Shallow and Deep Autistic Endophenotypes.

    Science.gov (United States)

    Gregory, B L; Plaisted-Grant, K C

    2016-05-01

    A high Autism-Spectrum Quotient (AQ) score (Baron-Cohen et al. in J Autism Dev Disord 31(1):5-17, 2001) is increasingly used as a proxy in empirical studies of perceptual mechanisms in autism. Several investigations have assessed perception in non-autistic people measured for AQ, claiming the same relationship exists between performance on perceptual tasks in high-AQ individuals as observed in autism. We question whether the similarity in performance by high-AQ individuals and autistics reflects the same underlying perceptual cause in the context of two visual search tasks administered to a large sample of typical individuals assessed for AQ. Our results indicate otherwise and that deploying the AQ as a proxy for autism introduces unsubstantiated assumptions about high-AQ individuals, the endophenotypes they express, and their relationship to Autistic Spectrum Conditions (ASC) individuals. PMID:24077740

  4. Charter School Replication. Policy Guide

    Science.gov (United States)

    Rhim, Lauren Morando

    2009-01-01

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

  5. Komunikasi Antarpribadi Pada Anak Penderita Autisme (Studi Kasus Mengenai Komunikasi Efektif Pada Anak Penderita Autisme di Sekolah Khusus Autisme YAKARI)

    OpenAIRE

    Sembiring, Camilla Emanuella

    2015-01-01

    This study, entitled Interpersonal Communication In Children Autism Patients (Case Study Regarding Effective Communication in Children with Autism in Autism Special School YAKARI). This study aims to determine the stages and the role of interpersonal communication in the formation of effective communication in children with autism in the Autism Special School YAKARI. The theory used in this study are: Communication, Interpersonal Communication, Communication Psychology and Self-Disclosure. Th...

  6. Multisite functional connectivity MRI classification of autism: ABIDE results

    Directory of Open Access Journals (Sweden)

    Jared A Nielsen

    2013-09-01

    Full Text Available Background: Systematic differences in functional connectivity MRI metrics have been consistently observed in autism, with predominantly decreased cortico-cortical connectivity. Previous attempts at single subject classification in high-functioning autism using whole brain point-to-point functional connectivity have yielded about 80% accurate classification of autism vs. control subjects across a wide age range. We attempted to replicate the method and results using the Autism Brain Imaging Data Exchange including resting state fMRI data obtained from 964 subjects and 16 separate international sites.Methods: For each of 964 subjects, we obtained pairwise functional connectivity measurements from a lattice of 7266 regions of interest covering the gray matter (26.4 million "connections" after preprocessing that included motion and slice timing correction, coregistration to an anatomic image, normalization to standard space, and voxelwise removal by regression of motion parameters, soft tissue, CSF, and white matter signals. Connections were grouped into multiple bins, and a leave-one-out classifier was evaluated on connections comprising each set of bins. Age, age-squared, gender, handedness, and site were included as covariates for the classifier.Results: Classification accuracy significantly outperformed chance but was much lower for multisite prediction than for previous single site results. As high as 60% accuracy was obtained for whole brain classification, with the best accuracy from connections involving regions of the default mode network, parahippocampal and fusiform gyri, insula, Wernicke Area, and intraparietal sulcus. The classifier score was related to symptom severity, social function, daily living skills, and verbal IQ. Classification accuracy was significantly higher for sites with longer BOLD imaging times.Conclusions: Multisite functional connectivity classification of autism outperformed chance using a simple leave

  7. DATABASE REPLICATION IN HETEROGENOUS PLATFORM

    Directory of Open Access Journals (Sweden)

    Hendro Nindito

    2014-01-01

    Full Text Available 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 MySQL running on Linux as the destination. The method applied in this research is prototyping in which the processes of development and testing can be done interactively and repeatedly. The key result of this research is that the replication technology applied, which is called Oracle GoldenGate, can successfully manage to do its task in replicating data in real-time and heterogeneous platforms.

  8. Biomarkers in Autism

    Directory of Open Access Journals (Sweden)

    Robert eHendren

    2014-08-01

    Full Text Available Autism spectrum disorders (ASD are complex, heterogeneous disorders caused by an interaction between genetic vulnerability and environmental factors. In an effort to better target the underlying roots of ASD for diagnosis and treatment, efforts to identify reliable biomarkers in genetics, neuroimaging, gene expression and measures of the body’s metabolism are growing. For this article, we review the published studies of potential biomarkers in autism and conclude that while there is increasing promise of finding biomarkers that can help us target treatment, there are none with enough evidence to support routine clinical use unless medical illness is suspected. Promising biomarkers include those for mitochondrial function, oxidative stress, and immune function. Genetic clusters are also suggesting the potential for useful biomarkers.

  9. 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

  10. The Troubled Touch of Autism.

    Science.gov (United States)

    Tuttle, Alexander H; Bartsch, Victoria B; Zylka, Mark J

    2016-07-14

    A study finds that deficits in touch-sensing somatosensory neurons contribute to social interaction and anxiety phenotypes in mouse models of autism and Rett syndrome. These findings suggest that some core symptoms of autism might originate from aberrant development or function of the peripheral nervous system. PMID:27419865

  11. [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 e

  12. Material Voices: Intermediality and Autism

    Science.gov (United States)

    Trimingham, Melissa; Shaughnessy, Nicola

    2016-01-01

    Autism continues to be regarded enigmatically; a community that is difficult to access due to perceived disruptions of interpersonal connectedness. Through detailed observations of two children participating in the Arts and Humanities Research Council funded project "Imagining Autism: Drama, Performance and Intermediality as Interventions for…

  13. Environmental risk factors for autism

    Directory of Open Access Journals (Sweden)

    Rodney R. Dietert

    2011-04-01

    Full Text Available Autism is a devastating childhood condition that has emerged as an increasing social concern just as it has increased in prevalence in recent decades. Autism and the broader category of autism spectrum disorders are among the increasingly seen examples in which there is a fetal basis for later disease or disorder. Environmental, genetic, and epigenetic factors all play a role in determining the risk of autism and some of these effects appear to be transgenerational. Identification of the most critical windows of developmental vulnerability is paramount to understanding when and under what circumstances a child is at elevated risk for autism. No single environmental factor explains the increased prevalence of autism. While a handful of environmental risk factors have been suggested based on data from human studies and animal research, it is clear that many more, and perhaps the most significant risk factors, remain to be identified. The most promising risk factors identified to date fall within the categories of drugs, environmental chemicals, infectious agents, dietary factors, and other physical/psychological stressors. However, the rate at which environmental risk factors for autism have been identified via research and safety testing has not kept pace with the emerging health threat posed by this condition. For the way forward, it seems clear that additional focused research is needed. But more importantly, successful risk reduction strategies for autism will require more extensive and relevant developmental safety testing of drugs and chemicals.

  14. Examining Sensory Quadrants in Autism

    Science.gov (United States)

    Kern, Janet K.; Garver, Carolyn R.; Carmody, Thomas; Andrews, Alonzo A.; Trivedi, Madhukar H.; Mehta, Jyutika A.

    2007-01-01

    The purpose of this study was to examine sensory quadrants in autism based on Dunn's Theory of Sensory Processing. The data for this study was collected as part of a cross-sectional study that examined sensory processing (using the Sensory Profile) in 103 persons with autism, 3-43 years of age, compared to 103 age- and gender-matched community…

  15. 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…

  16. 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)

  17. Autisme-spektrum forstyrrelser

    DEFF Research Database (Denmark)

    Laursen, Kathrine Bang

    2014-01-01

    Sammenfatning Autisme er blandt de alvorligste psykiske udviklingsforstyrrelser blandt børn og unge. Vi har set en stigning i diagnosticerede tilfælde igennem de sidste 20 år fra nogle få promille til omkring én procent. Stigningen i forekomsten skyldes formodentlig primært udvikling i diagnostisk...... 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....

  18. Brain imaging and autism

    International Nuclear Information System (INIS)

    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)

  19. The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders

    OpenAIRE

    Jennifer Gerdts; Raphael Bernier

    2011-01-01

    The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical tw...

  20. Young Children with Autism Spectrum Disorder: Strategies that Work

    Science.gov (United States)

    Willis, Clarissa

    2009-01-01

    Five types of autism are recognized under autism spectrum disorder (ASD). The author discusses the major characteristics associated with autism and offers some simple strategies for helping children with autism function in preschool settings.

  1. Brief Report: Visuo-Spatial Guidance of Movement during Gesture Imitation and Mirror Drawing in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Salowitz, Nicole M. G.; Eccarius, Petra; Karst, Jeffrey; Carson, Audrey; Schohl, Kirsten; Stevens, Sheryl; Van Hecke, Amy Vaughan; Scheidt, Robert A.

    2013-01-01

    Thirteen autistic and 14 typically developing children (controls) imitated hand/arm gestures and performed mirror drawing; both tasks assessed ability to reorganize the relationship between spatial goals and the motor commands needed to acquire them. During imitation, children with autism were less accurate than controls in replicating hand shape,…

  2. 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…

  3. 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…

  4. 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), 579-600],…

  5. A Comparative Study of the Spontaneous Social Interactions of Children with High-Functioning Autism and Children with Asperger's Disorder

    Science.gov (United States)

    Macintosh, Kathleen; Dissanayake, Cheryl

    2006-01-01

    A comparative observational study was undertaken of the spontaneous social interactions of children with high-functioning autism and Asperger's disorder. The sample comprised 20 children with high-functioning autism, 19 children with Asperger's disorder and 17 typically developing children matched on chronological age and overall mental age. A…

  6. Long-Term Cognitive and Behavioral Therapies, Combined with Augmentative Communication, Are Related to Uncinate Fasciculus Integrity in Autism

    Science.gov (United States)

    Pardini, Matteo; Elia, Maurizio; Garaci, Francesco G.; Guida, Silvia; Coniglione, Filadelfo; Krueger, Frank; Benassi, Francesca; Gialloreti, Leonardo Emberti

    2012-01-01

    Recent evidence points to white-matter abnormalities as a key factor in autism physiopathology. Using Diffusion Tensor Imaging, we studied white-matter structural properties in a convenience sample of twenty-two subjects with low-functioning autism exposed to long-term augmentative and alternative communication, combined with sessions of cognitive…

  7. Food selectivity in autism spectrum disorders: a systematic review.

    Science.gov (United States)

    Marí-Bauset, Salvador; Zazpe, Itziar; Mari-Sanchis, Amelia; Llopis-González, Agustín; Morales-Suárez-Varela, María

    2014-11-01

    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, level of evidence and grade of recommendation. The main search was conducted in Medline, Cochrane Library, Scielo, ScienceDirect, and Embase). There is empirical evidence and an overall scientific consensus supporting an association between food selectivity and autism spectrum disorders.

  8. 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…

  9. 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...

  10. 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...

  11. 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...

  12. 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)…

  13. Attachment and Symbolic Play in Preschoolers with Autism Spectrum Disorders

    Science.gov (United States)

    Marcu, Inbal; Oppenheim, David; Koren-Karie, Nina; Dolev, Smadar; Yirmiya, Nurit

    2009-01-01

    The association between attachment and symbolic play was examined in a sample of 45 preschool age boys with autism spectrum disorders. Attachment was assessed using the strange situation procedure, and the frequency, duration, diversity and complexity of child-initiated symbolic play was assessed from observations of mother-child interactions…

  14. Teaching Generalized Reading and Spelling to Children with Autism

    Science.gov (United States)

    Tanji, Takayuki; Takahashi, Kosuke; Noro, Fumiyuki

    2013-01-01

    We examined the effects of constructed-response matching-to-sample (CRMTS) training on the generalization of reading and spelling skills in three Japanese children with autism using a series of overlapping-syllable word sets. We taught them to construct printed words to match printed words, spoken words, and pictures through the CRMTS procedure.…

  15. Symbolic Communication Forms in Young Children with Autism Spectrum Disorder

    Science.gov (United States)

    Braddock, Barbara A.; Armbrecht, Eric S.

    2016-01-01

    The aim of this study was to examine how early symbolic forms (and their associated communicative functions) are related to change in communication among a sample of 12 young children with autism spectrum disorder (ASD) who produced two or fewer spoken words ("M" age = 28.75 months; 11 male, 1 female). Parents reported on children's…

  16. 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…

  17. 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…

  18. Psychiatric Comorbidity in Adolescents and Young Adults with Autism

    Science.gov (United States)

    Moseley, David S.; Tonge, Bruce J.; Brereton, Avril V.; Einfeld, Stewart L.

    2011-01-01

    This article reports the findings of a study investigating rates and types of comorbid mental disorder evident in adolescents and young adults with autism. A sample of 84 young people (M = 19.5 years, SD = 4.6) with "Diagnostic and Statistical Manual of Mental Disorders," 4th Edition, Text Revision (DSM-IV-TR; American Psychiatric Association,…

  19. 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…

  20. 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. PMID:20981775

  1. Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees

    Directory of Open Access Journals (Sweden)

    Coon Hilary

    2010-04-01

    Full Text Available Abstract Background Autism Spectrum Disorders (ASD are phenotypically heterogeneous, characterized by impairments in the development of communication and social behaviour and the presence of repetitive behaviour and restricted interests. Dissecting the genetic complexity of ASD may require phenotypic data reflecting more detail than is offered by a categorical clinical diagnosis. Such data are available from the Social Responsiveness Scale (SRS which is a continuous, quantitative measure of social ability giving scores that range from significant impairment to above average ability. Methods We present genome-wide results for 64 multiplex and extended families ranging from two to nine generations. SRS scores were available from 518 genotyped pedigree subjects, including affected and unaffected relatives. Genotypes from the Illumina 6 k single nucleotide polymorphism panel were provided by the Center for Inherited Disease Research. Quantitative and qualitative analyses were done using MCLINK, a software package that uses Markov chain Monte Carlo (MCMC methods to perform multilocus linkage analysis on large extended pedigrees. Results When analysed as a qualitative trait, linkage occurred in the same locations as in our previous affected-only genome scan of these families, with findings on chromosomes 7q31.1-q32.3 [heterogeneity logarithm of the odds (HLOD = 2.91], 15q13.3 (HLOD = 3.64, and 13q12.3 (HLOD = 2.23. Additional positive qualitative results were seen on chromosomes 6 and 10 in regions that may be of interest for other neuropsychiatric disorders. When analysed as a quantitative trait, results replicated a peak found in an independent sample using quantitative SRS scores on chromosome 11p15.1-p15.4 (HLOD = 2.77. Additional positive quantitative results were seen on chromosomes 7, 9, and 19. Conclusions The SRS linkage peaks reported here substantially overlap with peaks found in our previous affected-only genome scan of clinical diagnosis

  2. 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.

  3. Regulation of Replication Recovery and Genome Integrity

    DEFF Research Database (Denmark)

    Colding, Camilla Skettrup

    Preserving genome integrity is essential for cell survival. To this end, mechanisms that supervise DNA replication and respond to replication perturbations have evolved. One such mechanism is the replication checkpoint, which responds to DNA replication stress and acts to ensure replication pausing...

  4. 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

  5. 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.

  6. Screening for autism in Mexico.

    Science.gov (United States)

    Fombonne, Eric; Marcin, Carlos; Bruno, Ruth; Tinoco, Cecilia Manero; Marquez, Christian Diaz

    2012-06-01

    In order to conduct the screening phase of the first epidemiological survey of autism spectrum disorders (ASDs) in Mexico, we needed a screening tool to detect autistic symptomatology in a large sample of school-age children. We used the Spanish version of the Social Responsiveness Scale (SRS). We recruited a clinical sample of 200 children (81% males; mean age: 7.4 years) with a confirmed diagnosis of ASDs and a sample of 363 control children (59.5% males; mean age: 8.5 years) without ASDs. Three-way analyses of variance (ANOVAs) identified a main effect of clinical status (ASDs vs. controls) for both parent and teacher scales, but no gender or age effect. The mean total and subscale raw scores were significantly different between the clinical and control groups for the parent and for the teacher SRS (P < 0.001). The internal consistency of the SRS was excellent. Receiver operating characteristic (ROC) analyses showed excellent discriminant validity of the SRS in the Mexican sample (area under the curve: 0.962 for the parent, 0.960 for the teacher). ROC curves were also used to determine which cutoff would provide the best trade-off between sensitivity and specificity. Mexican SRS scores were significantly higher than in the U.S. and German population for typically developing children but comparable for clinically referred subjects. The SRS is an acceptable screening instrument for epidemiological studies of ASDs in Mexico. Its psychometric properties are excellent and comparable to those derived from North American and other samples. PMID:22581514

  7. 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

  8. International Expansion through Flexible Replication

    DEFF Research Database (Denmark)

    Jonsson, Anna; Foss, Nicolai Juul

    2011-01-01

    Business organizations may expand internationally by replicating a part of their value chain, such as a sales and marketing format, in other countries. However, little is known regarding how such “international replicators” build a format for replication, or how they can adjust it in order to adapt...... 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...

  9. Beery VMI performance in autism spectrum disorder.

    Science.gov (United States)

    Green, Ryan R; Bigler, Erin D; Froehlich, Alyson; Prigge, Molly B D; Travers, Brittany G; Cariello, Annahir N; Anderson, Jeffrey S; Zielinski, Brandon A; Alexander, Andrew; Lange, Nicholas; Lainhart, Janet E

    2016-01-01

    Few studies have examined the visuomotor integration (VMI) abilities of individuals with autism spectrum disorder (ASD). An all-male sample consisting of 56 ASD participants (ages 3-23 years) and 36 typically developing (TD) participants (ages 4-26 years) completed the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) as part of a larger neuropsychological battery. Participants were also administered standardized measures of intellectual functioning and the Social Responsiveness Scale (SRS), which assesses autism and autism-like traits. The ASD group performed significantly lower on the Beery VMI and on all IQ measures compared to the TD group. VMI performance was significantly correlated with full scale IQ (FSIQ), performance IQ (PIQ), and verbal IQ (VIQ) in the TD group only. However, when FSIQ was taken into account, no significant Beery VMI differences between groups were observed. Only one TD participant scored 1.5 standard deviations (SDs) below the Beery VMI normative sample mean, in comparison to 21% of the ASD sample. As expected, the ASD group was rated as having significantly higher levels of social impairment on the SRS compared to the TD group across all major domains. However, level of functioning on the SRS was not associated with Berry VMI performance. These findings demonstrate that a substantial number of individuals with ASD experience difficulties compared to TD in performing VMI-related tasks, and that VMI is likely affected by general cognitive ability. The fact that lowered Beery VMI performance occurred only within a subset of individuals with ASD and did not correlate with SRS would indicate that visuomotor deficits are not a core feature of ASD, even though they present at a higher rate of impairment than observed in TD participants.

  10. Autism overflows: increasing prevalence and proliferating theories.

    Science.gov (United States)

    Waterhouse, Lynn

    2008-12-01

    This selective review examines the lack of an explanation for the sharply increasing prevalence of autism, and the lack of any synthesis of the proliferating theories of autism. The most controversial and most widely disseminated notion for increasing prevalence is the measles-mumps-rubella/thimerosal vaccine theory. Less controversial causes that have been proposed include changes in autism diagnostic criteria, increasing services for autism, and growing awareness of the disorder. Regardless of its causes, the increasing prevalence of autism has put pressure on the field of autism research to generate productive and predictive theories of autism. However, the heterogeneity of brain deficits, impaired behaviors, and genetic variants in autism have challenged researchers and theorists, and despite 45 years of research, no standard causal synthesis has emerged. Research going forward should assume that autism is an aggregation of myriad independent disorders of impaired sociality, social cognition, communication, and motor and cognitive skills.

  11. 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.

  12. Where does DNA replication start in archaea?

    OpenAIRE

    Vas, Amit; Leatherwood, Janet

    2000-01-01

    Genome-wide measures of DNA strand composition have been used to find archaeal DNA replication origins. Archaea seem to replicate using a single origin (as do eubacteria) even though archaeal replication factors are more like those of eukaryotes.

  13. Characterizing the daily life, needs, and priorities of adults with autism spectrum disorder from Interactive Autism Network data.

    Science.gov (United States)

    Gotham, Katherine; Marvin, Alison R; Taylor, Julie Lounds; Warren, Zachary; Anderson, Connie M; Law, Paul A; Law, Jessica K; Lipkin, Paul H

    2015-10-01

    Using online survey data from a large sample of adults with autism spectrum disorder and legal guardians, we first report outcomes across a variety of contexts for participants with a wide range of functioning, and second, summarize these stakeholders' priorities for future research. The sample included n = 255 self-reporting adults with autism spectrum disorder aged 18-71 years (M = 38.5 years, standard deviation = 13.1 years) and n = 143 adults with autism spectrum disorder aged 18-58 years (M = 25.0 years, standard deviation = 8.2 years) whose information was provided by legal guardians. Although the self-reporting subsample had much higher rates of employment, marriage/partnership, and independent living than are typically seen in autism spectrum disorder outcome studies, they remained underemployed and had strikingly high rates of comorbid disorders. Data on both descriptive outcomes and rated priorities converged across subsamples to indicate the need for more adult research on life skills, treatments, co-occurring conditions, and vocational and educational opportunities. Stakeholders also placed priority on improving public services, health care access, and above all, public acceptance of adults with autism spectrum disorder. Findings must be interpreted in light of the self-reporting subsample's significant proportion of females and of later-diagnosed individuals. This study underscores the need for lifespan research; initiatives will benefit from incorporating information from the unique perspectives of adults with autism spectrum disorder and their families.

  14. [Psychobiosocial interventions for autism].

    Science.gov (United States)

    Bölte, S

    2011-05-01

    A multitude of interventions is offered for the treatment of autism spectrum disorders (ASD). However, only few have demonstrated scientific evidence, and even the evaluated methods need further examination of their mechanisms and scope. This article provides a brief summary of the premises and principles of successful psychobiosocial ASD intervention. ABA, TEACCH, PECS, social skills and cognitive training are described as examples for established approaches to ASD. Training of μ-suppression using neurofeedback and reanimation of the fusiform gyrus and amygdala using computer-aided facial affect recognition training are introduced as neurobiologically based ASD interventions. PMID:21523442

  15. Autism and related disorders.

    Science.gov (United States)

    McPartland, James; Volkmar, Fred R

    2012-01-01

    The pervasive developmental disorders are a group of neurodevelopmental disorders that include autistic disorder, Asperger's disorder, pervasive developmental disorder - not otherwise specified (PDD-NOS), childhood disintegrative disorder (CDD), and Rett's disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (autistic disorder, Asperger's disorder, and PDD-NOS) are currently referred to as autism spectrum disorders, reflecting divergent phenotypic and etiological characteristics compared to Rett's disorder and CDD. This chapter reviews research and clinical information to appropriate medical diagnosis and treatment. PMID:22608634

  16. 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.

  17. 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. PMID:22114543

  18. The Anisotropy of Replicated Aluminum Foams

    Directory of Open Access Journals (Sweden)

    Eugeny L. Furman

    2014-01-01

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

  19. Structural magnetic resonance imaging data do not help support DSM-5 autism spectrum disorder category

    OpenAIRE

    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 in patients with ASD compared with healthy controls are increased total brain volume in early childhood and decreased corpus callosum volume. Regar...

  20. The importance of physician knowledge of autism spectrum disorder: results of a parent survey

    OpenAIRE

    Scarpa Angela; Rhoades Rachel A; Salley Brenda

    2007-01-01

    Abstract Background Early diagnosis and referral to treatment prior to age 3–5 years improves the prognosis of children with Autism Spectrum Disorder (ASD). However, ASD is often not diagnosed until age 3–4 years, and medical providers may lack training to offer caregivers evidence-based treatment recommendations. This study tested hypotheses that 1) children with ASD would be diagnosed between ages 3–4 years (replicating prior work), 2) caregivers would receive little information beyond the ...

  1. Rethinking language in autism.

    Science.gov (United States)

    Sterponi, Laura; de Kirby, Kenton; Shankey, Jennifer

    2015-07-01

    In this article, we invite a rethinking of traditional perspectives of language in autism. We advocate a theoretical reappraisal that offers a corrective to the dominant and largely tacitly held view that language, in its essence, is a referential system and a reflection of the individual's cognition. Drawing on scholarship in Conversation Analysis and linguistic anthropology, we present a multidimensional view of language, showing how it also functions as interactional accomplishment, social action, and mode of experience. From such a multidimensional perspective, we revisit data presented by other researchers that include instances of prototypical features of autistic speech, giving them a somewhat different-at times complementary, at times alternative-interpretation. In doing so, we demonstrate that there is much at stake in the view of language that we as researchers bring to our analysis of autistic speech. Ultimately, we argue that adopting a multidimensional view of language has wide ranging implications, deepening our understanding of autism's core features and developmental trajectory. PMID:24916453

  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. Autism in the Faroe Islands: diagnostic stability from childhood to early adult life

    OpenAIRE

    Eva Kočovská; Eva Billstedt; Asa Ellefsen; Hanna Kampmann; I Carina Gillberg; Rannvá Biskupstø; Guðrið Andorsdóttir; Tormóður Stóra; Helen Minnis; Christopher Gillberg

    2013-01-01

    Childhood autism or autism spectrum disorder (ASD) has been regarded as one of the most stable diagnostic categories applied to young children with psychiatric/developmental disorders. The stability over time of a diagnosis of ASD is theoretically interesting and important for various diagnostic and clinical reasons. We studied the diagnostic stability of ASD from childhood to early adulthood in the Faroe Islands: a total school age population sample (8–17-year-olds) was screened and diagnos...

  4. Autismo: neuroimagem Autism: neuroimaging

    Directory of Open Access Journals (Sweden)

    Mônica Zilbovicius

    2006-05-01

    Full Text Available O autismo é um transtorno de neurodesenvolvimento com diversas apresentações clínicas. Essas apresentações variam em gravidade (leves a graves e são denominadas transtornos do espectro do autismo. O sinal mais comum aos transtornos desse espectro é o déficit de interação social, que está associado a déficits de comunicação verbal e não-verbal e a comportamentos estereotipados e repetitivos. Graças a estudos recentes que utilizam métodos de imagem cerebral, os cientistas obtiveram uma idéia melhor dos circuitos neurais envolvidos nos transtornos do espectro do autismo. De fato, os exames de imagem cerebral funcionais, como tomografia por emissão de pósitrons, tomografia por emissão de fóton único e ressonância magnética funcional abriram uma nova perspectiva para o estudo do funcionamento cerebral normal e patológico. Três estudos independentes encontraram anormalidades da anatomia e do funcionamento em repouso do lobo temporal em pacientes autistas. Essas alterações estão localizadas bilateralmente nos sulcos temporais superiores. Essa região anatômica é de grande importância para a percepção de estímulos sociais essenciais. Além disso, estudos funcionais demonstraram hipoativação da maior parte das áreas envolvidas na percepção social (percepção de faces e voz e cognição social (teoria da mente. Esses dados sugerem um funcionamento anormal da rede de pensamentos do cérebro social no autismo. A compreensão das alterações nesse importante mecanismo pode estimular a elaboração de novas e mais adequadas estratégias sociais de reeducação para pacientes autistas.Autism is a neurodevelopmental disorder with a range of clinical presentations. These presentations vary from mild to severe and are referred to as autism spectrum disorders. The most common clinical sign of autism spectrum disorders is social interaction impairment, which is associated with verbal and non-verbal communication deficits

  5. A Theoretical Model for Autism

    OpenAIRE

    Vidal de Caralho, Luís Alfred; Ferreira, Nívea de Carvalho; Fiszman, Adriana

    2001-01-01

    Autism is a mental disorder characterized by deficits in socialization, communication, and imagination. Along with the deficits, autistic children may show savant skills (“islets of ability”) of unknown origin that puzzles their families and the psychologists. Comorbidity with epilepsy and mental retardation has brought the researchers' attention to neurobiological and cognitive theories of the syndrome. The present article proposes a neurobiological model for the autism based on the fundamen...

  6. 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...

  7. 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.

  8. 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)

  9. Mercury and autism: accelerating evidence?

    Science.gov (United States)

    Mutter, Joachim; Naumann, Johannes; Schneider, Rainer; Walach, Harald; Haley, Boyd

    2005-10-01

    The causes of autism and neurodevelopmental disorders are unknown. Genetic and environmental risk factors seem to be involved. Because of an observed increase in autism in the last decades, which parallels cumulative mercury exposure, it was proposed that autism may be in part caused by mercury. We review the evidence for this proposal. Several epidemiological studies failed to find a correlation between mercury exposure through thimerosal, a preservative used in vaccines, and the risk of autism. Recently, it was found that autistic children had a higher mercury exposure during pregnancy due to maternal dental amalgam and thimerosal-containing immunoglobulin shots. It was hypothesized that children with autism have a decreased detoxification capacity due to genetic polymorphism. In vitro, mercury and thimerosal in levels found several days after vaccination inhibit methionine synthetase (MS) by 50%. Normal function of MS is crucial in biochemical steps necessary for brain development, attention and production of glutathione, an important antioxidative and detoxifying agent. Repetitive doses of thimerosal leads to neurobehavioral deteriorations in autoimmune susceptible mice, increased oxidative stress and decreased intracellular levels of glutathione in vitro. Subsequently, autistic children have significantly decreased level of reduced glutathione. Promising treatments of autism involve detoxification of mercury, and supplementation of deficient metabolites.

  10. 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) PMID:24488830

  11. 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 ... whether there is a relationship between vaccines and autism spectrum disorder (ASD). To date, the studies continue ...

  12. Prenatal Inflammation Linked to Autism Risk

    Science.gov (United States)

    ... Thursday, January 24, 2013 Prenatal inflammation linked to autism risk Maternal inflammation during early pregnancy may be related to an increased risk of autism in children, according to new findings supported by ...

  13. Autism and the Family: A Qualitative Perspective

    OpenAIRE

    Glass, Paul William

    2001-01-01

    AUTISM AND THE FAMILY: A QUALITATIVE PERSPECTIVE Paul W. Glass (ABSTRACT) The focus of this dissertation was to gain a better understanding of autism, and its effects on family life. Studies have been done on the behavioral and cognitive effects of autism on the affected child, and how those effects manifest themselves into family life. No studies were found, however, that give a rich, qualitative account of what it is like to live with autism using first hand accounts as data, and ...

  14. Brief Report: Enhanced Picture Naming in Autism

    Science.gov (United States)

    Walenski, Matthew; Mostofsky, Stewart H.; Gidley-Larson, Jennifer C.; Ullman, Michael T.

    2008-01-01

    Language and communication deficits are key diagnostic criteria for autism. However, not all aspects of language are equally affected. Here we present evidence of "enhanced" performance of a critical aspect of language--word processing--in children with autism. The results have implications for explanatory theories of autism and language, and for…

  15. 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…

  16. 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…

  17. 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…

  18. Grammaticality Judgments in Autism: Deviance or Delay

    Science.gov (United States)

    Eigsti, Inge-Marie; Bennetto, Loisa

    2009-01-01

    Language in autism has been the subject of intense interest, because communication deficits are central to the disorder, and because autism serves as an arena for testing theories of language acquisition. High-functioning older children with autism are often considered to have intact grammatical abilities, despite pragmatic impairments. Given the…

  19. Virginia Tech Center for Autism Research

    OpenAIRE

    Virginia Tech Center for Autism Research

    2012-01-01

    These slides serve as a welcome for the Autism Research Conference held at Virginia Tech on August 15 2012. The slides describe symptoms and prevalence of autism spectrum disorders, list goals for the proposed Center for Autism Research, and list the speakers and agenda for the conference.

  20. 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. Oxid

  1. 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…

  2. 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.…

  3. Children Grow Up: Autism in Adolescents & Adults.

    Science.gov (United States)

    Meyers, Kathleen; Griesman, Brenda

    The booklet examines issues associated with autism in adolescents and adults. Teenagers with autism exhibit behaviors not unlike their nondisabled peers, and standard definitions of the syndrome may not be relevant at that age. Brief articles explore the range of emotions families may encounter with a young adult or adult who has autism, typical…

  4. Autism and ADHD: Overlapping and Discriminating Symptoms

    Science.gov (United States)

    Mayes, Susan Dickerson; Calhoun, Susan L.; Mayes, Rebecca D.; Molitoris, Sarah

    2012-01-01

    Children with ADHD and autism have some similar features, complicating a differential diagnosis. The purpose of our study was to determine the degree to which core ADHD and autistic symptoms overlap in and discriminate between children 2-16 years of age with autism and ADHD. Our study demonstrated that 847 children with autism were easily…

  5. Color Perception in Children with Autism

    Science.gov (United States)

    Franklin, Anna; Sowden, Paul; Burley, Rachel; Notman, Leslie; Alder, Elizabeth

    2008-01-01

    This study examined whether color perception is atypical in children with autism. In experiment 1, accuracy of color memory and search was compared for children with autism and typically developing children matched on age and non-verbal cognitive ability. Children with autism were significantly less accurate at color memory and search than…

  6. Test Review: Autism Spectrum Rating Scales

    Science.gov (United States)

    Simek, Amber N.; Wahlberg, Andrea C.

    2011-01-01

    This article reviews Autism Spectrum Rating Scales (ASRS) which are designed to measure behaviors in children between the ages of 2 and 18 that are associated with disorders on the autism spectrum as rated by parents/caregivers and/or teachers. The rating scales include items related to behaviors associated with Autism, Asperger's Disorder, and…

  7. Cellular factors required for papillomavirus DNA replication.

    OpenAIRE

    Melendy, T; Sedman, J; Stenlund, A

    1995-01-01

    In vitro replication of papillomavirus DNA has been carried out with a combination of purified proteins and partially purified extracts made from human cells. DNA synthesis requires the viral E1 protein and the papillomavirus origin of replication. The E2 protein stimulates DNA synthesis in a binding site-independent manner. Papillomavirus DNA replication is also dependent on the cellular factors replication protein A, replication factor C, and proliferating-cell nuclear antigen as well as a ...

  8. Optimal Placement of Origins for DNA Replication

    OpenAIRE

    Karschau, Jens; Blow, J. Julian; de Moura, Alessandro P. S.

    2012-01-01

    DNA replication is an essential process in biology and its timing must be robust so that cells can divide properly. Random fluctuations in the formation of replication starting points, called origins, and the subsequent activation of proteins lead to variations in the replication time. We analyse these stochastic properties of DNA and derive the positions of origins corresponding to the minimum replication time. We show that under some conditions the minimization of replication time leads to ...

  9. The replication-transcription conflict

    OpenAIRE

    Soultanas, Panos

    2011-01-01

    In response to environmental and nutritional stimuli, a whole array of proteins remodel genome architecture, activate or transcribe genes, suppress genes, repair lesions and base-modifications, faithfully replicate and safely separate the parental and daughter genomes during cell division. Negotiating and resolving conflicts of genome trafficking is essential for genome stability.

  10. Covert Reinforcement: A Partial Replication.

    Science.gov (United States)

    Ripstra, Constance C.; And Others

    A partial replication of an investigation of the effect of covert reinforcement on a perceptual estimation task is described. The study was extended to include an extinction phase. There were five treatment groups: covert reinforcement, neutral scene reinforcement, noncontingent covert reinforcement, and two control groups. Each subject estimated…

  11. Cellular Responses to Replication Problems

    NARCIS (Netherlands)

    M. Budzowska (Magdalena)

    2008-01-01

    textabstractDuring every S-phase cells need to duplicate their genomes so that both daughter cells inherit complete copies of genetic information. It is a tremendous task, given the large sizes of mammalian genomes and the required precision of DNA replication. A major threat to the accuracy and eff

  12. 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.

  13. Crinivirus replication and host interactions

    Directory of Open Access Journals (Sweden)

    Zsofia A Kiss

    2013-05-01

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

  14. Can Sibling Sex Ratios Be Used as a Valid Test for the Prenatal Androgen Hypothesis of Autism Spectrum Disorders?

    Directory of Open Access Journals (Sweden)

    Keely Cheslack-Postava

    Full Text Available Sibling sex ratios have been applied as an indirect test of a hypothesized association between prenatal testosterone levels and risk for autism, a developmental disorder disproportionately affecting males. Differences in sibling sex ratios between those with and without autism would provide evidence of a shared risk factor for autism and offspring sex. Conclusions related to prenatal testosterone, however, require additional assumptions. Here, we used directed acyclic graphs (DAGs to clarify the elements required for a valid test of the hypothesis that sibling sex ratios differ between children with and without autism. We then conducted such a test using a large, population-based sample of children.Over 1.1 million subjects, born in California from 1992-2007, and identified through birth records, were included. The association between autism diagnosis, determined using the administrative database of the California Department of Developmental Services, and the sex of the subsequent sibling was examined using generalized estimating equations. Sources of potential bias identified using DAGs were addressed.Among male children with autism, 52.2% of next-born siblings were brothers, versus 51.0% for unaffected males. For females with autism, 50.2% of following siblings were brothers versus 51.2% among control females. The relative risk of a subsequent male sibling associated with autism diagnosis was 1.02 (95% confidence interval: 0.99, 1.04.In a large, population-based sample we failed to find evidence suggesting an excess of brothers among children with autism while controlling for several threats to validity. This test cannot rule out a role of any given exposure, including prenatal testosterone, in either risk of autism or offspring sex ratio, but suggests against a common cause of both.

  15. A Resampling Based Clustering Algorithm for Replicated Gene Expression Data.

    Science.gov (United States)

    Li, Han; Li, Chun; Hu, Jie; Fan, Xiaodan

    2015-01-01

    In gene expression data analysis, clustering is a fruitful exploratory technique to reveal the underlying molecular mechanism by identifying groups of co-expressed genes. To reduce the noise, usually multiple experimental replicates are performed. An integrative analysis of the full replicate data, instead of reducing the data to the mean profile, carries the promise of yielding more precise and robust clusters. In this paper, we propose a novel resampling based clustering algorithm for genes with replicated expression measurements. Assuming those replicates are exchangeable, we formulate the problem in the bootstrap framework, and aim to infer the consensus clustering based on the bootstrap samples of replicates. In our approach, we adopt the mixed effect model to accommodate the heterogeneous variances and implement a quasi-MCMC algorithm to conduct statistical inference. Experiments demonstrate that by taking advantage of the full replicate data, our algorithm produces more reliable clusters and has robust performance in diverse scenarios, especially when the data is subject to multiple sources of variance. PMID:26671802

  16. [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.

  17. 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.)

  18. Functional neuroimaging and childhood autism

    International Nuclear Information System (INIS)

    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.)

  19. What Do the General Population Know, Believe and Feel about Individuals with Autism and Schizophrenia: Results from a Comparative Survey in Denmark

    Science.gov (United States)

    Jensen, Christina Mohr; Martens, Caroline Skat; Nikolajsen, Nanna Dagmar; Skytt Gregersen, Trine; Heckmann Marx, Nanna; Goldberg Frederiksen, Mette; Hansen, Martine Stene

    2016-01-01

    Few studies investigate what members of the general population know about individuals with autism. Only one study has previously investigated how beliefs about autism differ from those about other psychiatric disorders. This study surveyed a convenience sample of the general adult population, within the Northern Region of Denmark, about their…

  20. What aspects of autism predispose to talent?

    Science.gov (United States)

    Happé, Francesca; Vital, Pedro

    2009-01-01

    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. PMID:19528019

  1. Hyperthermia stimulates HIV-1 replication.

    OpenAIRE

    Ferdinand Roesch; Oussama Meziane; Anna Kula; Sébastien Nisole; Françoise Porrot; Ian Anderson; Fabrizio Mammano; Ariberto Fassati; Alessandro Marcello; Monsef Benkirane; Olivier Schwartz

    2012-01-01

    International audience 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 inve...

  2. Dynamic replication of Web contents

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    The phenomenal growth of the World Wide Web has brought huge increase in the traffic to the popular web sites.Long delays and denial of service experienced by the end-users,especially during the peak hours,continues to be the common problem while accessing popular sites.Replicating some of the objects at multiple sites in a distributed web-server environment is one of the possible solutions to improve the response time/Iatency. The decision of what and where to replicate requires solving a constraint optimization problem,which is NP-complete in general.In this paper, we consider the problem of placing copies of objects in a distributed web server system to minimize the cost of serving read and write requests when the web servers have Iimited storage capacity.We formulate the problem as a 0-1 optimization problem and present a polynomial time greedy algorithm with backtracking to dynamically replicate objects at the appropriate sites to minimize a cost function.To reduce the solution search space,we present necessary condi tions for a site to have a replica of an object jn order to minimize the cost function We present simulation resuIts for a variety of problems to illustrate the accuracy and efficiency of the proposed algorithms and compare them with those of some well-known algorithms.The simulation resuIts demonstrate the superiority of the proposed algorithms.

  3. A diagnostic protocol for autism: an Italian experience

    OpenAIRE

    DUCA, Maddalena; Posar, Annio; Parmeggiani, Antonia

    2012-01-01

    Background and aims: The usefulness of a protocol for aetiologic diagnosis in pervasive developmental disorders (PDD) has been considered in literature and the results are heterogeneous. We addressed this topic, evaluating an Italian sample of patients with PDD. Material and methods: We included in the study the patients referred to the Autism Centre of the University of Bologna from January 1999 to September 2009, affected by PDD according to DSM-IV-TR. All the subjects underwent anamnesi...

  4. Predicting Friendship Quality in Autism Spectrum Disorders and Typical Development

    OpenAIRE

    Bauminger, Nirit; Solomon, Marjorie; Rogers, Sally J.

    2009-01-01

    The role played by social relationship variables (attachment security; mother–child relationship qualities) and social-cognitive capacities (theory of mind) was examined in both observed friendship behaviors and in children’s descriptions of friendships (age 8–12) with high functioning children with autism spectrum disorders (HFASD) (n = 44) and with typical development (TYP) (n = 38). Overall, half of the HFASD sample (54.45%) reported maternal attachment security, corroborating data from yo...

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

    OpenAIRE

    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 ...

  6. Autism Spectrum Disorders | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Autism Spectrum Disorders What Are Autism Spectrum Disorders (ASD)? Past Issues / Winter 2013 Table of Contents Fast Facts Autism Spectrum Disorders (ASD) are a group of developmental ...

  7. Methods of Assessing Replicability in Canonical Correlation Analysis (CCA).

    Science.gov (United States)

    King, Jason E.

    Theoretical hypotheses generated from data analysis of a single sample should not be advanced until the replicability issue is treated. At least one of three questions usually arises when evaluating the invariance of results obtained from a canonical correlation analysis (CCA): (1) "Will an effect occur in subsequent studies?"; (2) "Will the size…

  8. Psychological type and attitude towards Christianity: A replication.

    OpenAIRE

    MC GUCKIN, CONOR

    2003-01-01

    PUBLISHED 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.

  9. Autism Spectrum Disorders in Iran

    OpenAIRE

    Mohammadi, Mohammad Reza; Salmanian, Maryam; Akhondzadeh, Shahin

    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...

  10. 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.

  11. 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. PMID:26940865

  12. 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....

  13. 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.

  14. In search of the holy replicator

    OpenAIRE

    Gilbert, David M.

    2004-01-01

    After 40 years of searching for the eukaryotic replicator sequence, it is time to abandon the concept of ‘the’ replicator as a single genetic entity. Here I propose a ‘relaxed replicon model’ in which a positive initiator–replicator interaction is facilitated by a combination of several complex features of chromatin. An important question for the future is whether the positions of replication origins are simply a passive result of local chromatin structure or are actively localized to coordin...

  15. Mutator phenotypes due to DNA replication infidelity

    OpenAIRE

    Arana, Mercedes E.; Kunkel, Thomas A.

    2010-01-01

    This article considers the fidelity of DNA replication performed by eukaryotic DNA polymerases involved in replicating the nuclear genome. DNA replication fidelity can vary widely depending on the DNA polymerase, the composition of the error, the flanking sequence, the presence of DNA damage and the ability to correct errors. As a consequence, defects in processes that determine DNA replication fidelity can confer strong mutator phenotypes whose specificity can help determine the molecular na...

  16. Possible applications for replicating HIV 1 vectors

    OpenAIRE

    Das, Atze T.; Jeeninga, Rienk E.; Berkhout, Ben

    2010-01-01

    Since its discovery some 25 years ago, much has been learned about HIV type 1 and the molecular details of its replication cycle. This insight has been used to develop lentiviral vector systems that have advantages over conventional retroviral vector systems. For safety reasons, the lentiviral vector systems are replication incompetent and the risk of generating a replication competent virus has been minimized. Nevertheless, there may be certain applications for replication competent HIV base...

  17. [Autism, genetics and synaptic function alterations].

    Science.gov (United States)

    Perche, O; Laumonnier, F; Baala, L; Ardourel, M-Y; Menuet, A; Robin, V; Mortaud, S; Montécot-Dubourg, C; Richard, O; Pichon, J; Briault, S

    2010-10-01

    Autism is a neurodevelopmental disorder characterized by a deficit of language and communication both associated with a restricted repertoire of activities and interests. The current prevalence of autistic disorder stricto sensu is estimated at 1/500 whereas autism spectrum disorders (ASD) increases up to 1/150 to 1/200. Mental deficiency (MD) and epilepsy are present in numerous autistic individuals. Consequently, autism is as a major public health issue. Autism was first considered as a non biological disease; however various rational approaches for analysing epidemiological data suggested the possibility of the influence of genetic factors. In 2003, this hypothesis was clearly illustrated by the characterization of genetic mutations transmitted through a mendelian manner. Subsequently, the glutamate synapse appeared as a preferential causal target in autism because the identified genes encoded proteins present in this structure. Strikingly, the findings that an identical genetic dysfunction of the synapse might also explain some MD suggested the possibility of a genetic comorbidity between these neurodevelopmental conditions. To date, various identified genes are considered indifferently as "autism" or "MD" genes. The characterization of mutations in the NLGN4X gene in patients with Asperger syndrome, autism without MD, or MD without autism, was the first example. It appears that a genetic continuum between ASD on one hand, and between autism and MD on the other hand, is present. Consequently, it is likely that genes already involved in MD will be found mutated in autistic patients and will represent future target for finding new factors in autism.

  18. DNA Replication Reaches the Breaking Point

    OpenAIRE

    Petrini, John H.J.

    2009-01-01

    DNA strand breaks that result in stalled or damaged replication forks can be detrimental to the DNA replication process. In this issue, Doksani et al. (2009) examine the impact of a single double-stranded DNA break on replication in the budding yeast, Saccharomyces cerevisiae.

  19. 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...

  20. 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

  1. 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.

  2. Power and precision of replicated helicopter surveys in mixed bushveld

    Directory of Open Access Journals (Sweden)

    B.K. Reilly

    1998-01-01

    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.

  3. Psychotherapy for Anxiety in Children With Autism Spectrum Disorder

    Science.gov (United States)

    2016-10-25

    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

  4. 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. PMID:27606239

  5. Broader Autism Phenotype in Iranian Parents of Children with Autism Spectrum Disorders vs. Normal Children

    OpenAIRE

    Mohammad Reza Mohammadi; Hadi Zarafshan; Salehe Ghasempour

    2012-01-01

    Objective The aim of the present study was to compare the broader autism phenotype in Iranian parents of children with autism spectrum disorders and parents of typically developing children. Method Parents of children with ASD and parents of typically developing children were asked to complete the Persian version of the Autism Spectrum Quotient (AQ). In the ASD group, families included 204 parents (96 fathers and 108 mothers) of children diagnosed as having autism (Autistic Disorder, or AD) (...

  6. Using the Autism Detection in Early Childhood (ADEC) and Childhood Autism Rating Scales (CARS) to Predict Long Term Outcomes in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Nah, Yong-Hwee; Young, Robyn L.; Brewer, Neil

    2014-01-01

    This study evaluated the predictive validity of the Autism Detection in Early Childhood (ADEC; Young, Autism detection in early childhood: ADEC. Australian Council of Educational Research, Camberwell, VIC 2007) and a well-established screening tool, the Childhood Autism Rating Scale (CARS; Schopler et al. The childhood autism rating scale (CARS).…

  7. Lipid Membranes in Poxvirus Replication

    Directory of Open Access Journals (Sweden)

    Jason P. Laliberte

    2010-04-01

    Full Text Available Poxviruses replicate in the cytoplasm, where they acquire multiple lipoprotein membranes. Although a proposal that the initial membrane arises de novo has not been substantiated, there is no accepted explanation for its formation from cellular membranes. A subsequent membrane-wrapping step involving modified trans-Golgi or endosomal cisternae results in a particle with three membranes. These wrapped virions traverse the cytoplasm on microtubules; the outermost membrane is lost during exocytosis, the middle one is lost just prior to cell entry, and the remaining membrane fuses with the cell to allow the virus core to enter the cytoplasm and initiate a new infection.

  8. 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…

  9. 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"…

  10. 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…

  11. The Broad Autism Phenotype Questionnaire: Mothers versus Fathers of Children with an Autism Spectrum Disorder

    Science.gov (United States)

    Seidman, Ifat; Yirmiya, Nurit; Milshtein, Shahaf; Ebstein, Richard P.; Levi, Shlomit

    2012-01-01

    Parents of individuals with autism were examined using the Broad Autism Phenotype Questionnaire (BAPQ; Hurley et al. in "J Autism Dev Disord" 37:1679-1690, 2007) assessing BAP-related personality and language characteristics. The BAPQ was administered to parents as a self-report and as an informant (spouse)-based measure. Results indicated the…

  12. Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection

    Science.gov (United States)

    Davidson, Julie; Goin-Kochel, Robin P.; Green-Snyder, Lee Anne; Hundley, Rachel J.; Warren, Zachary; Peters, Sarika U.

    2014-01-01

    The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the "Broad Autism Phenotype Questionnaire" (BAPQ), "Social Responsiveness Scale: Adult Research Version" (SRS:ARV), and "Family…

  13. 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…

  14. 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…

  15. Amniotic fluid chemokines and autism spectrum disorders: An exploratory study utilizing a Danish Historic Birth Cohort

    DEFF Research Database (Denmark)

    Abdallah, Morsi; Larsen, Nanna Brink; Grove, Jakob;

    2012-01-01

    Elevated levels of chemokines have been reported in plasma and brain tissue of individuals with Autism Spectrum Disorders (ASD). The aim of this study was to examine chemokine levels in amniotic fluid (AF) samples of individuals diagnosed with ASD and their controls.......Elevated levels of chemokines have been reported in plasma and brain tissue of individuals with Autism Spectrum Disorders (ASD). The aim of this study was to examine chemokine levels in amniotic fluid (AF) samples of individuals diagnosed with ASD and their controls....

  16. Autism: Pathophysiology and Promising Herbal Remedies.

    Science.gov (United States)

    Bahmani, Mahmoud; Sarrafchi, Amir; Shirzad, Hedayatollah; Rafieian-Kopaei, Mahmoud

    2016-01-01

    Autism is a comprehensive growth abnormality in which social skills, language, communication, and behavioral skills are developed with delay and as diversionary. The reasons for autism are unclear, but various theories of genetics, immunity, biological, and psychosocial factors have been proffered. In fact, autism is a complex disorder with distinct causes that usually co-occur. Although no medicine has been recognized to treat this disorder, pharmacological treatments can be effective in reducing its signs, such as self-mutilation, aggression, repetitive and stereotyped behaviors, inattention, hyperactivity, and sleeping disorders. Recently, complementary and alternative approaches have been considered to treat autism. Ginkgo biloba is one of the most effective plants with an old history of applications in neuropsychological disorders which recently is used for autism. The present review discusses the recent findings, pathophysiology, and etiology of autism and thereafter addresses the promising results of herbal remedies.

  17. Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders.

    Science.gov (United States)

    Mouga, Susana; Café, Cátia; Almeida, Joana; Marques, Carla; Duque, Frederico; Oliveira, Guiomar

    2016-09-01

    The influence of specific autism spectrum disorder (ASD) deficits in Intelligence Quotients (IQ), Indexes and subtests from the Wechsler Intelligence Scale for Children-III was investigated in 445 school-aged children: ASD (N = 224) and other neurodevelopmental disorders (N = 221), matched by Full-Scale IQ and chronological age. ASD have lower scores in the VIQ than PIQ. The core distinctive scores between groups are Processing Speed Index and "Comprehension" and "Coding" subtests with lower results in ASD. ASD group with normal/high IQ showed highest score on "Similarities" subtest whereas the lower IQ group performed better on "Object Assembly". The results replicated our previous work on adaptive behaviour, showing that adaptive functioning is positively correlated with intellectual profile, especially with the Communication domain in ASD. PMID:27312715

  18. 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. PMID:26446859

  19. 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.

  20. The Efficiency of a Selective Training Program on the Development of Some Social Skills of Saudi Students with Autism

    Science.gov (United States)

    Alothman, Ibrahim A.

    2016-01-01

    The objective of the present study is to find out the efficiency of a selective training program on the development of some social skills of Saudi students with Autism. The study sample comprised of (6) male students with Autism who aged (9-12) years, with an average age of (10.58) years, and a standard deviation of (1.16) years. Their IQ ranged…

  1. Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.

    Directory of Open Access Journals (Sweden)

    Daniela Brunner

    Full Text Available Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors. A major roadblock for drug development for autism is the lack of robust behavioral signatures predictive of clinical efficacy. To address this issue, we further characterized, in a uniform and rigorous way, mouse models of autism that are of interest because of their construct validity and wide availability to the scientific community. We implemented a broad behavioral battery that included but was not restricted to core autism domains, with the goal of identifying robust, reliable phenotypes amenable for further testing. Here we describe comprehensive findings from two known mouse models of autism, obtained at different developmental stages, using a systematic behavioral test battery combining standard tests as well as novel, quantitative, computer-vision based systems. The first mouse model recapitulates a deletion in human chromosome 16p11.2, found in 1% of individuals with autism. The second mouse model harbors homozygous null mutations in Cntnap2, associated with autism and Pitt-Hopkins-like syndrome. Consistent with previous results, 16p11.2 heterozygous null mice, also known as Del(7Slx1b-Sept14Aam weighed less than wild type littermates displayed hyperactivity and no social deficits. Cntnap2 homozygous null mice were also hyperactive, froze less during testing, showed a mild gait phenotype and deficits in the three-chamber social preference test, although less robust than previously published. In the open field test with exposure to urine of an estrous female, however, the Cntnap2 null mice showed reduced vocalizations. In addition, Cntnap2 null mice performed slightly better in a cognitive procedural learning test. Although finding and replicating robust behavioral phenotypes in animal models is a challenging task, such functional readouts remain important in the development of

  2. Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.

    Science.gov (United States)

    Brunner, Daniela; Kabitzke, Patricia; He, Dansha; Cox, Kimberly; Thiede, Lucinda; Hanania, Taleen; Sabath, Emily; Alexandrov, Vadim; Saxe, Michael; Peles, Elior; Mills, Alea; Spooren, Will; Ghosh, Anirvan; Feliciano, Pamela; Benedetti, Marta; Luo Clayton, Alice; Biemans, Barbara

    2015-01-01

    Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors. A major roadblock for drug development for autism is the lack of robust behavioral signatures predictive of clinical efficacy. To address this issue, we further characterized, in a uniform and rigorous way, mouse models of autism that are of interest because of their construct validity and wide availability to the scientific community. We implemented a broad behavioral battery that included but was not restricted to core autism domains, with the goal of identifying robust, reliable phenotypes amenable for further testing. Here we describe comprehensive findings from two known mouse models of autism, obtained at different developmental stages, using a systematic behavioral test battery combining standard tests as well as novel, quantitative, computer-vision based systems. The first mouse model recapitulates a deletion in human chromosome 16p11.2, found in 1% of individuals with autism. The second mouse model harbors homozygous null mutations in Cntnap2, associated with autism and Pitt-Hopkins-like syndrome. Consistent with previous results, 16p11.2 heterozygous null mice, also known as Del(7Slx1b-Sept1)4Aam weighed less than wild type littermates displayed hyperactivity and no social deficits. Cntnap2 homozygous null mice were also hyperactive, froze less during testing, showed a mild gait phenotype and deficits in the three-chamber social preference test, although less robust than previously published. In the open field test with exposure to urine of an estrous female, however, the Cntnap2 null mice showed reduced vocalizations. In addition, Cntnap2 null mice performed slightly better in a cognitive procedural learning test. Although finding and replicating robust behavioral phenotypes in animal models is a challenging task, such functional readouts remain important in the development of therapeutics and we

  3. Parental psychiatric disorders and autism spectrum disorders

    OpenAIRE

    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,...

  4. Embodiment and sense-making in autism

    OpenAIRE

    Hanne De Jaegher

    2013-01-01

    Traditional functionalist approaches to autism consider cognition, communication, and perception separately, and can only provide piecemeal accounts of autism. Basing an integrative explanation on a single cause or common factor has proven difficult. Traditional theories are also disembodied and methodologically individualistic. In order to overcome these problems, I propose an enactive account of autism. For the enactive approach to cognition embodiment, interaction, and personal ex...

  5. Autism and the development of face processing

    OpenAIRE

    Golarai, Golijeh; Grill-Spector, Kalanit; Reiss, Allan L.

    2006-01-01

    Autism is a pervasive developmental condition, characterized by impairments in non-verbal communication, social relationships and stereotypical patterns of behavior. A large body of evidence suggests that several aspects of face processing are impaired in autism, including anomalies in gaze processing, memory for facial identity and recognition of facial expressions of emotion. In search of neural markers of anomalous face processing in autism, much interest has focused on a network of brain ...

  6. A novel scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism

    Directory of Open Access Journals (Sweden)

    Jérôme eCarayol

    2014-02-01

    Full Text Available Autism spectrum disorders (ASD are highly heritable complex neurodevelopmental disorders with a 4:1 male: female ratio. Common genetic variation could explain 40-60% of the variance in liability to autism. Because of their small effect, genome-wide association studies (GWASs have only identified a small number of individual single-nucleotide polymorphisms (SNPs. To increase the power of GWASs in complex disorders, methods like convergent functional genomics (CFG have emerged to extract true association signals from noise and to identify and prioritize genes from SNPs using a scoring strategy combining statistics and functional genomics. We adapted and applied this approach to analyze data from a GWAS performed on families with multiple children affected with autism from Autism Speaks Autism Genetic Resource Exchange (AGRE. We identified a set of 133 candidate markers that were localized in or close to genes with functional relevance in ASD from a discovery population (545 multiplex families; a gender specific genetic score based on these common variants explained 1% (P = 0.01 in males and 5% (P = 8.7x10-7 in females of genetic variance in an independent sample of multiplex families. Overall, our work demonstrates that prioritization of GWAS data based on functional genomics identified common variants associated with autism and provided additional support for a common polygenic background in autism.

  7. The Social Cognitive Evaluation Battery for Children with Autism: A New Tool for the Assessment of Cognitive and Social Development in Children with Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Eric Thiébaut

    2010-01-01

    Full Text Available The Social Cognitive Evaluation Battery (SCEB is a new instrument for the psychological evaluation of children with autism. The battery consists of 16 scales that measure different cognitive and socioemotional functions. This study reports the results of a reliability analysis and some elements of validation. Analyses are based on the observed performance of 100 children with autism and a convenience sample of 35 normal children. Validation is based on the examination of the structure of the relations between the 16 scale scores of the SCEB, their relations with other measurements, the correspondence between the theoretical developmental ages, and the observed chronological ages and the SCEB's sensitivity to specific disorders. The results show that this new instrument is useful and relevant for the psychological assessment of children with autism.

  8. Clinical practice guideline: screening and diagnosing autism.

    Science.gov (United States)

    Blackwell, J

    2001-12-01

    The clinical practice guideline (CPG) reviewed in this month's column concerns the screening and diagnosis of autism. Autism is the third most common developmental disability and affects more than 1 in 500 children, or nearly 400,000 people in the United States, in some form. Primary care providers of children, including pediatric nurse practitioners (PNPs) and family nurse practitioners (FNPs), should reasonably expect to care for at least one child with autism (CWA). The American Academy of Neurology (AAN) has therefore developed guidelines to help healthcare providers facilitate the early identification of children with autism.

  9. Self-replication of DNA rings

    Science.gov (United States)

    Kim, Junghoon; Lee, Junwye; Hamada, Shogo; Murata, Satoshi; Ha Park, Sung

    2015-06-01

    Biology provides numerous examples of self-replicating machines, but artificially engineering such complex systems remains a formidable challenge. In particular, although simple artificial self-replicating systems including wooden blocks, magnetic systems, modular robots and synthetic molecular systems have been devised, such kinematic self-replicators are rare compared with examples of theoretical cellular self-replication. One of the principal reasons for this is the amount of complexity that arises when you try to incorporate self-replication into a physical medium. In this regard, DNA is a prime candidate material for constructing self-replicating systems due to its ability to self-assemble through molecular recognition. Here, we show that DNA T-motifs, which self-assemble into ring structures, can be designed to self-replicate through toehold-mediated strand displacement reactions. The inherent design of these rings allows the population dynamics of the systems to be controlled. We also analyse the replication scheme within a universal framework of self-replication and derive a quantitative metric of the self-replicability of the rings.

  10. DNA Replication via Entanglement Swapping

    CERN Document Server

    Pusuluk, Onur

    2010-01-01

    Quantum effects are mainly used for the determination of molecular shapes in molecular biology, but quantum information theory may be a more useful tool to understand the physics of life. Molecular biology assumes that function is explained by structure, the complementary geometries of molecules and weak intermolecular hydrogen bonds. However, both this assumption and its converse are possible if organic molecules and quantum circuits/protocols are considered as hardware and software of living systems that are co-optimized during evolution. In this paper, we try to model DNA replication as a multiparticle entanglement swapping with a reliable qubit representation of nucleotides. In the model, molecular recognition of a nucleotide triggers an intrabase entanglement corresponding to a superposition state of different tautomer forms. Then, base pairing occurs by swapping intrabase entanglements with interbase entanglements.

  11. Therapeutic targeting of replicative immortality.

    Science.gov (United States)

    Yaswen, Paul; MacKenzie, Karen L; Keith, W Nicol; Hentosh, Patricia; Rodier, Francis; Zhu, Jiyue; Firestone, Gary L; Matheu, Ander; Carnero, Amancio; Bilsland, Alan; Sundin, Tabetha; Honoki, Kanya; Fujii, Hiromasa; Georgakilas, Alexandros G; Amedei, Amedeo; Amin, Amr; Helferich, Bill; Boosani, Chandra S; Guha, Gunjan; Ciriolo, Maria Rosa; Chen, Sophie; Mohammed, Sulma I; Azmi, Asfar S; Bhakta, Dipita; Halicka, Dorota; Niccolai, Elena; Aquilano, Katia; Ashraf, S Salman; Nowsheen, Somaira; Yang, Xujuan

    2015-12-01

    One of the hallmarks of malignant cell populations is the ability to undergo continuous proliferation. This property allows clonal lineages to acquire sequential aberrations that can fuel increasingly autonomous growth, invasiveness, and therapeutic resistance. Innate cellular mechanisms have evolved to regulate replicative potential as a hedge against malignant progression. When activated in the absence of normal terminal differentiation cues, these mechanisms can result in a state of persistent cytostasis. This state, termed "senescence," can be triggered by intrinsic cellular processes such as telomere dysfunction and oncogene expression, and by exogenous factors such as DNA damaging agents or oxidative environments. Despite differences in upstream signaling, senescence often involves convergent interdependent activation of tumor suppressors p53 and p16/pRB, but can be induced, albeit with reduced sensitivity, when these suppressors are compromised. Doses of conventional genotoxic drugs required to achieve cancer cell senescence are often much lower than doses required to achieve outright cell death. Additional therapies, such as those targeting cyclin dependent kinases or components of the PI3K signaling pathway, may induce senescence specifically in cancer cells by circumventing defects in tumor suppressor pathways or exploiting cancer cells' heightened requirements for telomerase. Such treatments sufficient to induce cancer cell senescence could provide increased patient survival with fewer and less severe side effects than conventional cytotoxic regimens. This positive aspect is countered by important caveats regarding senescence reversibility, genomic instability, and paracrine effects that may increase heterogeneity and adaptive resistance of surviving cancer cells. Nevertheless, agents that effectively disrupt replicative immortality will likely be valuable components of new combinatorial approaches to cancer therapy. PMID:25869441

  12. Coming to grips with autism: Parents engaging with science

    Science.gov (United States)

    Feinstein, Noah Robert

    When and how does science matter to people in their everyday lives? In this dissertation, I explore the importance of science to parents of young children recently diagnosed with autism. I examine the questions parents ask and the resources they use as they attempt to understand and advocate for their children, and use this data to develop a new conceptual model of engagement with science: the intrapersonal and interpersonal process through which people connect science with their lived experience. I recruited a socio-economically diverse sample of ten parents, each with at least one young child (18 months--7 years) who had been diagnosed with autism 6--24 months prior to recruitment. Each parent completed a series of 8--12 semi-structured interviews over a period of approximately six months. These interviews were analyzed using both grounded theory and conceptually driven coding strategies. Two findings stand out. First, only a small fraction of parents' questions (15%) and resources (11%) were directly related to science. A much larger fraction (41% and 42%) fell into the broader categories of near-science questions and resources. Second, half of the parents demonstrated an iterative pattern of activity that I referred to as progressive engagement with science. In each case, a science or near-science question led the parent to a science or near-science resource, which transformed the question. The new question led to different science or near-science resources, which led to new questions and so forth. Parents who did not undertake progressive engagement with science were also less interested in autism as an organizing construct for understanding their children. Drawing on the work of Peter Galison, I propose that the idea of autism helps create a "trading zone" between the distinct social systems of family life and medical science. Parents who ask near-science questions must find near-science resources to help them direct their questions appropriately. They must

  13. Mapping autism risk loci using genetic linkage and chromosomal rearrangements

    Science.gov (United States)

    Szatmari, Peter; Paterson, Andrew; Zwaigenbaum, Lonnie; Roberts, Wendy; Brian, Jessica; Liu, Xiao-Qing; Vincent, John; Skaug, Jennifer; Thompson, Ann; Senman, Lili; Feuk, Lars; Qian, Cheng; Bryson, Susan; Jones, Marshall; Marshall, Christian; Scherer, Stephen; Vieland, Veronica; Bartlett, Christopher; Mangin, La Vonne; Goedken, Rhinda; Segre, Alberto; Pericak-Vance, Margaret; Cuccaro, Michael; Gilbert, John; Wright, Harry; Abramson, Ruth; Betancur, Catalina; Bourgeron, Thomas; Gillberg, Christopher; Leboyer, Marion; Buxbaum, Joseph; Davis, Kenneth; Hollander, Eric; Silverman, Jeremy; Hallmayer, Joachim; Lotspeich, Linda; Sutcliffe, James; Haines, Jonathan; Folstein, Susan; Piven, Joseph; Wassink, Thomas; Sheffield, Val; Geschwind, Daniel; Bucan, Maja; Brown, Ted; Cantor, Rita; Constantino, John; Gilliam, Conrad; Herbert, Martha; Lajonchere, Clara; Ledbetter, David; Lese-Martin, Christa; Miller, Janet; Nelson, Stan; Samango-Sprouse, Carol; Spence, Sarah; State, Matthew; Tanzi, Rudolph; Coon, Hilary; Dawson, Geraldine; Devlin, Bernie; Estes, Annette; Flodman, Pamela; Klei, Lambertus; Mcmahon, William; Minshew, Nancy; Munson, Jeff; Korvatska, Elena; Rodier, Patricia; Schellenberg, Gerard; Smith, Moyra; Spence, Anne; Stodgell, Chris; Tepper, Ping Guo; Wijsman, Ellen; Yu, Chang-En; Rogé, Bernadette; Mantoulan, Carine; Wittemeyer, Kerstin; Poustka, Annemarie; Felder, Bärbel; Klauck, Sabine; Schuster, Claudia; Poustka, Fritz; Bölte, Sven; Feineis-Matthews, Sabine; Herbrecht, Evelyn; Schmötzer, Gabi; Tsiantis, John; Papanikolaou, Katerina; Maestrini, Elena; Bacchelli, Elena; Blasi, Francesca; Carone, Simona; Toma, Claudio; Van Engeland, Herman; De Jonge, Maretha; Kemner, Chantal; Koop, Frederieke; Langemeijer, Marjolein; Hijmans, Channa; Staal, Wouter; Baird, Gillian; Bolton, Patrick; Rutter, Michael; Weisblatt, Emma; Green, Jonathan; Aldred, Catherine; Wilkinson, Julie-Anne; Pickles, Andrew; Le Couteur, Ann; Berney, Tom; Mcconachie, Helen; Bailey, Anthony; Francis, Kostas; Honeyman, Gemma; Hutchinson, Aislinn; Parr, Jeremy; Wallace, Simon; Monaco, Anthony; Barnby, Gabrielle; Kobayashi, Kazuhiro; Lamb, Janine; Sousa, Ines; Sykes, Nuala; Cook, Edwin; Guter, Stephen; Leventhal, Bennett; Salt, Jeff; Lord, Catherine; Corsello, Christina; Hus, Vanessa; Weeks, Daniel; Volkmar, Fred; Tauber, Maïté; Fombonne, Eric; Shih, Andy; Meyer, Kacie

    2007-01-01

    Autism spectrum disorders (ASD) are common, heritable neurodevelopmental conditions. The genetic architecture of ASD is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASD by using Affymetrix 10K single nucleotide polymorphism (SNP) arrays and 1168 families with ≥ 2 affected individuals to perform the largest linkage scan to date, while also analyzing copy number variation (CNV) in these families. Linkage and CNV analyses implicate chromosome 11p12-p13 and neurexins, respectively, amongst other candidate loci. Neurexins team with previously-implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for ASD. PMID:17322880

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

    Directory of Open Access Journals (Sweden)

    Camila Graciella Santos Gomes

    2008-01-01

    Full Text Available O estudo avaliou o desempenho de 20 pessoas com autismo em uma tarefa de emparelhamento por identidade sob dois procedimentos que diferiram quanto à forma de apresentação dos estímulos e à resposta de escolha. No procedimento de matching típico cada tentativa apresentava um estímulo modelo e três de comparação; no matching adaptado três modelos e três estímulos de comparação eram apresentados simultaneamente. O procedimento foi conduzido em três blocos: 10 tentativas de matching adaptado, 10 de matching típico e 20 tentativas com os dois arranjos misturados. A média de acertos foi significativamente maior no matching adaptado, mas ocorreu acentuada variabilidade inter-individual e esse arranjo favoreceu principalmente o desempenho de participantes com escores menores. A história prévia de aprendizagem dos participantes, entre outros fatores, pode ter influenciado nesses resultados, o que requer melhor avaliação, com outros controles experimentais.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

  15. Co-Occurrence of Autism and Deafness: Diagnostic Considerations.

    Science.gov (United States)

    Roper, Louise; Arnold, Paul; Monteiro, Brendan

    2003-01-01

    Two parts of the Autism Screening Instrument were administered to 13 individuals with deafness and autism (ages 15-24), individuals with autism (n=12), and individuals with deafness and learning disabilities (n=15). No differences in symptomatology were found between those who had autism, although those with deafness were diagnosed with autism…

  16. The Relation between Social Engagement and Pretend Play in Autism

    Science.gov (United States)

    Hobson, Jessica A.; Hobson, R. Peter; Malik, Supriya; Bargiota, Kyratso; Calo, Susana

    2013-01-01

    The focus of this study is the nature and concomitants of pretend play among young children with autism. Age- and language-matched children with autism ("n"= 27), autism spectrum disorder ("n"= 14), and developmental disorders without autism ("n"= 16) were administered the Test of Pretend Play (ToPP; Lewis &…

  17. Children with Autism: Sleep Problems and Symptom Severity

    Science.gov (United States)

    Tudor, Megan E.; Hoffman, Charles D.; Sweeney, Dwight P.

    2012-01-01

    Relationships between the specific sleep problems and specific behavioral problems of children with autism were evaluated. Mothers' reports of sleep habits and autism symptoms were collected for 109 children with autism. Unlike previous research in this area, only children diagnosed with autism without any commonly comorbid diagnoses (e.g.,…

  18. Comparison of Scores on the Checklist for Autism Spectrum Disorder, Childhood Autism Rating Scale, and Gilliam Asperger's Disorder Scale for Children with Low Functioning Autism, High Functioning Autism, Asperger's Disorder, ADHD, and Typical Development

    Science.gov (United States)

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

    2009-01-01

    Reliability and validity for three autism instruments were compared for 190 children with low functioning autism (LFA), 190 children with high functioning autism or Asperger's disorder (HFA), 76 children with attention deficit hyperactivity disorder (ADHD), and 64 typical children. The instruments were the Checklist for Autism Spectrum Disorder…

  19. Diagnosis and management of autism in adults.

    Science.gov (United States)

    Valkanova, Vyara; Rhodes, Fiona; Allan, Charlotte L

    2013-05-01

    Autism affects 1.1% of the adult population. The spectrum of symptoms is wide; some individuals have above average intelligence and are fully independent, while others have limited independence because of a learning disability. Developmental delay is a core feature, and autism is usually diagnosed in childhood. High-functioning individuals with autism, Asperger's syndrome, may remain undiagnosed until adulthood. Autism is a life-long condition characterised by problems in two core dimensions: difficulties with social communication and strongly repetitive behaviour, resistance to change or restricted interests.The history should identify early developmental and behavioural problems in different settings e.g. at home, in education or employment. Sensory and GI problems are very common, and should be asked about. The Autism-Spectrum Quotient (AQ-10) is a 10-item questionnaire for people with suspected autism. The advantage of using this in primary care is that it provides a time-efficient, structured way of ascertaining key symptoms and clearly signals those who should be referred for further assessment. Patients should be referred if autism is suspected clinically and a diagnosis of autism should be confirmed by a specialist multidisciplinary team. If a diagnosis of autism is made, clinicians should do a risk assessment and formulate risk and crisis management plans. These should include details of the roles and responsibilities of both the specialist team and primary care team in managing crisis situations. For adults with autism a group-based or an individual learning programme to improve social interaction is recommended. Adults with autism have high rates of unemployment, and employment programmes have been successfully used to support people

  20. Diagnosis and management of autism in adults.

    Science.gov (United States)

    Valkanova, Vyara; Rhodes, Fiona; Allan, Charlotte L

    2013-05-01

    Autism affects 1.1% of the adult population. The spectrum of symptoms is wide; some individuals have above average intelligence and are fully independent, while others have limited independence because of a learning disability. Developmental delay is a core feature, and autism is usually diagnosed in childhood. High-functioning individuals with autism, Asperger's syndrome, may remain undiagnosed until adulthood. Autism is a life-long condition characterised by problems in two core dimensions: difficulties with social communication and strongly repetitive behaviour, resistance to change or restricted interests.The history should identify early developmental and behavioural problems in different settings e.g. at home, in education or employment. Sensory and GI problems are very common, and should be asked about. The Autism-Spectrum Quotient (AQ-10) is a 10-item questionnaire for people with suspected autism. The advantage of using this in primary care is that it provides a time-efficient, structured way of ascertaining key symptoms and clearly signals those who should be referred for further assessment. Patients should be referred if autism is suspected clinically and a diagnosis of autism should be confirmed by a specialist multidisciplinary team. If a diagnosis of autism is made, clinicians should do a risk assessment and formulate risk and crisis management plans. These should include details of the roles and responsibilities of both the specialist team and primary care team in managing crisis situations. For adults with autism a group-based or an individual learning programme to improve social interaction is recommended. Adults with autism have high rates of unemployment, and employment programmes have been successfully used to support people PMID:23808126

  1. Breast cancer and autism.

    Science.gov (United States)

    Radcliff, Lisa

    2013-03-01

    Case Study Amy is a 44-year-old woman with severe autism. She lives with her sister Susan, who is her caregiver and guardian. Amy is ambulatory and able to dress and feed herself. She is a healthy individual with no other significant comorbidities. She walks daily and enjoys her sister's company. Amy's life expectancy is greater than 10 years. However, she is difficult to care for medically, as she will not allow a physical examination and strikes out when strangers try to touch her. She is nonverbal and unable to participate in decision-making. INITIAL DIAGNOSIS Amy has a history of breast cancer diagnosed 2 years ago, originally presenting as a stage I lesion (T2N0) that was palpated by her caregiver while bathing. She underwent right simple mastectomy with sentinel lymph node resection. Susan recalls that the mastectomy was a very challenging ordeal, as Amy kept pulling out IV lines, drains, and dressings. Susan felt that Amy withdrew from her after the procedure as she most likely associated Susan with the cause of the pain, making her role as caregiver more difficult. Pathology confirmed an invasive ductal carcinoma, moderately differentiated, 2.4 cm, estrogen/progesterone receptor negative, HER2/neu negative, with negative surgical margins. Two right axillary sentinel lymph nodes were negative for disease. The standard of care for a patient with these tumor features is surgery plus adjuvant chemotherapy (National Comprehensive Cancer Network [NCCN], 2012). According to the Adjuvant Online! database (2012), Amy's risk for relapse was approximately 40% without adjuvant treatment; her risk for mortality was approximately 29%. After meeting with a medical oncologist, Amy did not receive adjuvant chemotherapy. According to Susan, she was not offered the choice, and the decision was not explained to them. She was simply told that it was not necessary. Aside from pathology, previous records were unavailable for review. Medical assessment of Amy's level of autism

  2. Federated SPARQL Queries Processing with Replicated Fragments

    OpenAIRE

    Montoya, Gabriela; Skaf-Molli, Hala; Molli, Pascal; Vidal, Maria-Esther

    2015-01-01

    Federated query engines allow to consume linked data from SPARQL endpoints. Replicating data fragments from different sources allows to reorganize data to better fit federated query processing of data consumers. However, existing federated query engines poorly support replication. In this paper, we propose a replication-aware federated query engine that extends state-of-art federated query engine ANAPSID and FedX with Fedra, a source selection strategy that approximates the source selection p...

  3. Replicating organizational knowledge: principles or templates?

    OpenAIRE

    Baden-Fuller, Charles; Winter, Sidney G.

    2005-01-01

    We discuss how firms can replicate practices and knowledge embedded in practices by following principles, with no direct reference to an extant working example (template). Definitions are provided for the key concepts of templates, principles, and background knowledge. We address the challenges of providing operational measures for successful replication, and for comparing the efficacy of principles and templates. By using two longitudinal case studies of replication across the units of two m...

  4. Do transcriptional enhancers also augment DNA replication?

    OpenAIRE

    O'Connor, D T; Subramani, S

    1988-01-01

    Enhancers are DNA elements that augment transcription in cis, independent of distance and orientation. Evidence such as hormone dependent neoplastic cell growth and the stimulation of viral replication by sequences present in enhancers suggests that enhancers may also directly affect DNA replication. We tested this hypothesis in recombinant plasmids by asking whether sequences that stimulated DNA replication shared the properties of transcriptional enhancers. The homologous simian virus 40 (S...

  5. Controlled rereplication at DNA replication origins

    OpenAIRE

    Gómez, María

    2008-01-01

    No-more-than-once per cell cycle initiation of DNA replication is a golden rule to maintain genome stability and guarantee cell survival. In our recent work we discovered that small genome fragments of about 200 bp are repeatedly synthesised at human DNA replication origins at the time of origin firing during S phase in normal cells. Rereplicated DNA fragments coincide physical and temporarily with replication origin activity, implying that their generation is intimately associated with the i...

  6. Replication licensing and the DNA damage checkpoint

    OpenAIRE

    Cook, Jeanette Gowen

    2009-01-01

    Accurate and timely duplication of chromosomal DNA requires that replication be coordinated with processes that ensure genome integrity. Significant advances in determining how the earliest steps in DNA replication are affected by DNA damage have highlighted some of the mechanisms to establish that coordination. Recent insights have expanded the relationship between the ATM and ATR-dependent checkpoint pathways and the proteins that bind and function at replication origins. These findings sug...

  7. Persistent HIV-1 replication during antiretroviral therapy

    OpenAIRE

    Martinez-Picado, Javier; Deeks, Steven G

    2016-01-01

    Purpose of review The present review will highlight some of the recent findings regarding the capacity of HIV-1 to replicate during antiretroviral therapy (ART). Recent findings Although ART is highly effective at inhibiting HIV replication, it is not curative. Several mechanisms contribute to HIV persistence during ART, including HIV latency, immune dysfunction, and perhaps persistent low-level spread of the virus to uninfected cells (replication). The success in curing HIV will depend on ef...

  8. Symptoms of Autism Among Children with Congenital Deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

  9. The Association Between Children with Autism and Gastrointestinal Symptoms

    Directory of Open Access Journals (Sweden)

    Prince, Yasmeen

    2013-09-01

    Full Text Available Every day many thousands of children face the complications of Autism. According to Geraghty, Depasquale, and Lane (2010, Autism has become one of the most frequently diagnosed developmental disabilities, with one in one hundred children diagnosed with Autism in the United States every day. The etiology of Autism Spectrum Disorder (ASD has not been determined. One of many questions researchers are asking is whether an association exists between gastrointestinal disorders and Autism. This literature review examines the relationship between GI symptoms and eating patterns in children with Autism, and assesses whether special diets reduce symptoms of Autism Spectrum Disorder.

  10. Association between Kawasaki Disease and Autism: A Population-Based Study in Taiwan

    Directory of Open Access Journals (Sweden)

    Ho-Chang Kuo

    2014-04-01

    Full Text Available Objective: The association between Kawasaki disease and autism has rarely been studied in Asian populations. By using a nationwide Taiwanese population-based claims database, we tested the hypothesis that Kawasaki disease may increase the risk of autism in Taiwan. Materials and Methods: Our study cohort consisted of patients who had received the diagnosis of Kawasaki disease (ICD-9-CM: 446.1 between 1997 and 2005 (N = 563. For a comparison cohort, five age- and gender-matched control patients for every patient in the study cohort were selected using random sampling (N = 2,815. All subjects were tracked for 5 years from the date of cohort entry to identify whether they had developed autism (ICD-9-CM code 299.0 or not. Cox proportional hazard regressions were then performed to evaluate 5-year autism-free survival rates. Results: The main finding of this study was that patients with Kawasaki disease seem to not be at increased risk of developing autism. Of the total patients, four patients developed autism during the 5-year follow-up period, among whom two were Kawasaki disease patients and two were in the comparison cohort. Further, the adjusted hazard ratios (AHR (AHR: 4.81; 95% confidence interval: 0.68–34.35; P = 0.117 did not show any statistical significance between the Kawasaki disease group and the control group during the 5-year follow-up. Conclusion: Our study indicated that patients with Kawasaki disease are not at increased risk of autism.

  11. Regulation of chromosomal replication in Caulobacter crescentus.

    Science.gov (United States)

    Collier, Justine

    2012-03-01

    The alpha-proteobacterium Caulobacter crescentus is characterized by its asymmetric cell division, which gives rise to a replicating stalked cell and a non-replicating swarmer cell. Thus, the initiation of chromosomal replication is tightly regulated, temporally and spatially, to ensure that it is coordinated with cell differentiation and cell cycle progression. Waves of DnaA and CtrA activities control when and where the initiation of DNA replication will take place in C. crescentus cells. The conserved DnaA protein initiates chromosomal replication by directly binding to sites within the chromosomal origin (Cori), ensuring that DNA replication starts once and only once per cell cycle. The CtrA response regulator represses the initiation of DNA replication in swarmer cells and in the swarmer compartment of pre-divisional cells, probably by competing with DnaA for binding to Cori. CtrA and DnaA are controlled by multiple redundant regulatory pathways that include DNA methylation-dependent transcriptional regulation, temporally regulated proteolysis and the targeting of regulators to specific locations within the cell. Besides being critical regulators of chromosomal replication, CtrA and DnaA are also master transcriptional regulators that control the expression of many genes, thus connecting DNA replication with other events of the C. crescentus cell cycle.

  12. Comparison of three replication strategies in complex multicellular organisms: Asexual replication, sexual replication with identical gametes, and sexual replication with distinct sperm and egg gametes

    Science.gov (United States)

    Tannenbaum, Emmanuel

    2008-01-01

    This paper studies the mutation-selection balance in three simplified replication models. The first model considers a population of organisms replicating via the production of asexual spores. The second model considers a sexually replicating population that produces identical gametes. The third model considers a sexually replicating population that produces distinct sperm and egg gametes. All models assume diploid organisms whose genomes consist of two chromosomes, each of which is taken to be functional if equal to some master sequence, and defective otherwise. In the asexual population, the asexual diploid spores develop directly into adult organisms. In the sexual populations, the haploid gametes enter a haploid pool, where they may fuse with other haploids. The resulting immature diploid organisms then proceed to develop into mature organisms. Based on an analysis of all three models, we find that, as organism size increases, a sexually replicating population can only outcompete an asexually replicating population if the adult organisms produce distinct sperm and egg gametes. A sexual replication strategy that is based on the production of large numbers of sperm cells to fertilize a small number of eggs is found to be necessary in order to maintain a sufficiently low cost for sex for the strategy to be selected for over a purely asexual strategy. We discuss the usefulness of this model in understanding the evolution and maintenance of sexual replication as the preferred replication strategy in complex, multicellular organisms.

  13. Cells and prions: a license to replicate.

    Science.gov (United States)

    Nuvolone, Mario; Aguzzi, Adriano; Heikenwalder, Mathias

    2009-08-20

    Prion diseases are neurodegenerative, infectious disorders characterized by the aggregation of a misfolded isoform of the cellular prion protein (PrP(C)). The infectious agent - termed prion - is mainly composed of misfolded PrP(Sc). In addition to the central nervous system prions can colonize secondary lymphoid organs and inflammatory foci. Follicular dendritic cells are important extraneural sites of prion replication. However, recent data point to a broader range of cell types that can replicate prions. Here, we review the state of the art in regards to peripheral prion replication, neuroinvasion and the determinants of prion replication competence. PMID:19527722

  14. Ideas are Not Replicators but Minds Are

    OpenAIRE

    Gabora, Liane M

    2004-01-01

    An idea is not a replicator because it does not consist of coded self-assembly instructions. It may retain structure as it passes from one individual to another, but does not replicate it. The cultural replicator is not an idea but an associatively-structured network of them that together form an internal model of the world, or worldview. A worldview is a primitive, uncoded replicator, like the autocatalytic sets of polymers widely believed to be the earliest form of life. Primitive replicato...

  15. Validity of Autism Behavior Checklist (ABC: preliminary study

    Directory of Open Access Journals (Sweden)

    Marteleto Márcia Regina Fumagalli

    2005-01-01

    Full Text Available OBJECTIVE: To examine the concurrent and criterion validity of the Autism Behavior Checklist (ABC. METHODS: Three groups, comprising 38 mothers of children previously diagnosed with autism (DSM IV-TR, 2002, 43 mothers of children with language disorders other than autism, and 52 mothers of children who had no linguistic or behavioral complaints, were interviewed. In order to minimize the effect of maternal level of education, the questionnaire was completed by the researcher. To determine the concurrent validation, ANOVA and discriminant analysis were used. The ROC curve was used to establish the cutoff score of the sample and to examine the criterion validity. RESULTS: The mean total score was significantly higher in the group of mothers of autistic children than in the other groups. The ABC correctly identified 81.6% of the autistic children. The ROC curve cutoff score was 49, and the sensitivity was 92.1%, higher than the 57.89% found when a cutoff score of 68 was used. The specificity was 92.6%, similar to the 94.73% obtained with a cutoff score of 68. CONCLUSIONS: The ABC shows promise as an instrument for identifying children with autistic disorders, both in clinical and educational contexts, especially when a cutoff score of 49 is used.

  16. Factor associated with stress among parents of children with autism

    International Nuclear Information System (INIS)

    To determine the factors associated with stress among parents of children with autism. Study Design: A cross-sectional field survey study. Place and Duration of Study: Department of Psychology, GC University, Lahore, from September 2012 to November 2013. Methodology: The sample consisted of 100 parents (50 mothers and 50 fathers) of children with autism. Measures of childhood autism rating, sense of coherence, parenting self-efficacy, parenting stress, and demographic data sheet were completed by the parents in outdoor units of children hospital, institutes, and at their homes. Results: Significant correlations were found between severity of impairment and parenting stress (r = .53, p < .01), between parenting self-efficacy and parenting stress (r = -.35, p < .01, and between sense of coherence and parenting stress (r = -.26, p < .05). No significant gender difference emerged in terms of parenting self-efficacy, sense of coherence, and parenting stress. Results of stepwise regression partially supported our hypothesized model, as severity of child impairment, and parenting self-efficacy appeared as significant predictors of parenting stress (R2 = .35). However, there was no evidence of role of demographic variables in the parenting stress. Conclusion: The severity of child's impairment emerged as the most salient risk factor for parenting stress; however, it was concluded that parents ability and confidence in their competence of parenting a child in challenging situations may reduce their stress. (author)

  17. Autism traits in the RASopathies

    OpenAIRE

    Adviento, B; Corbin, IL; Widjaja, F; Desachy, G; Enrique, N.; Rosser, T.; Risi, S; Marco, EJ; Hendren, RL; Bearden, CE; Rauen, KA; Weiss, LA

    2013-01-01

    Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and...

  18. The Thyroid-Autism Connection

    Science.gov (United States)

    Kellman, Raphael

    2010-01-01

    The center for Disease Control and Prevention (CDC) has found that 1 in 110 children in the US have been diagnosed with Autism Spectrum Disorder (ASD), up from 1 in 150 in 2007. A study in the "Journal of Pediatrics" in October 2009 revealed similar numbers. Parents of 1 in 90 children reported that their child has ASD. That report is now 1 in 58.…

  19. A Comprehensive Book on Autism Spectrum Disorders

    Science.gov (United States)

    Mohammadi, Mohammad-Reza, Ed.

    2011-01-01

    The aim of the book is to serve for clinical, practical, basic and scholarly practices. In twentyfive chapters it covers the most important topics related to Autism Spectrum Disorders in the efficient way and aims to be useful for health professionals in training or clinicians seeking an update. Different people with autism can have very different…

  20. Deaf Children with Autism Spectrum Disorders

    Science.gov (United States)

    Szymanski, Christen A.; Brice, Patrick J.; Lam, Kay H.; Hotto, Sue A.

    2012-01-01

    Epidemiological studies investigating the prevalence of autism have increased in recent years, within the United States and abroad. However, statistics as to how many of those children may also have a comorbid hearing loss is lacking. The prevalence of school-administrator reported diagnosis of autism spectrum disorders (clinical diagnosis…

  1. Catatonia in Autism: A Distinct Subtype?

    Science.gov (United States)

    Ghaziuddin, M.; Quinlan, P.; Ghaziuddin, N.

    2005-01-01

    Catatonia is a life-threatening disorder characterized by motor abnormalities, mutism, and disturbances of behaviour, which is increasingly being diagnosed in persons with autism. In this report, we describe the presentation and course of catatonia in an adolescent with autism who responded to electroconvulsive therapy (ECT). The illness started…

  2. Microglia in the Cerebral Cortex in Autism

    Science.gov (United States)

    Tetreault, Nicole A.; Hakeem, Atiya Y.; Jiang, Sue; Williams, Brian A.; Allman, Elizabeth; Wold, Barbara J.; Allman, John M.

    2012-01-01

    We immunocytochemically identified microglia in fronto-insular (FI) and visual cortex (VC) in autopsy brains of well-phenotyped subjects with autism and matched controls, and stereologically quantified the microglial densities. Densities were determined blind to phenotype using an optical fractionator probe. In FI, individuals with autism had…

  3. Parental Voices and Controversies in Autism

    Science.gov (United States)

    Langan, Mary

    2011-01-01

    Parents of children with autism have played a prominent role in controversies surrounding this condition. Parental voices were critical in challenging the "refrigerator mother" theory and more recently have attracted public attention for claims that autism may be caused by childhood vaccinations and that "unorthodox biomedical" treatments may…

  4. Autism Parenting Stress Index: Initial Psychometric Evidence

    Science.gov (United States)

    Silva, Louisa M. T.; Schalock, Mark

    2012-01-01

    Data validating the Autism Parenting Stress Index (APSI) is presented for 274 children under age six. Cronbach's alpha was 0.827. As a measure of parenting stress specific to core and co-morbid symptoms of autism, the APSI is unique. It is intended for use by clinicians to identify areas where parents need support with parenting skills, and to…

  5. Unbroken Mirror Neurons in Autism Spectrum Disorders

    Science.gov (United States)

    Fan, Yang-Teng; Decety, Jean; Yang, Chia-Yen; Liu, Ji-Lin; Cheng, Yawei

    2010-01-01

    Background: The "broken mirror" theory of autism, which proposes that a dysfunction of the human mirror neuron system (MNS) is responsible for the core social and cognitive deficits in individuals with autism spectrum disorders (ASD), has received considerable attention despite weak empirical evidence. Methods: In this electroencephalographic…

  6. Health Care: Role of ICT in Autism

    Science.gov (United States)

    Shahid, Hafiza Maimoona; Tariq, Sohaib; Saleem, Imran; Butt, Muhammad Adil; Tariq, Arslan; Tariq, Iqra

    2015-01-01

    Recently, considerable advancement has been seen for educating the people with autism. Research has shown that people with autism reveals positive behavior while interacting with innovative information technologies as compared to therapies. This review focuses on the possible use of ICT in the education and development of the people with autism…

  7. Nutrition and Its Relationship to Autism.

    Science.gov (United States)

    Adams, Lynn; Conn, Susan

    1997-01-01

    Discusses the relationship between food allergies and sensitivities and autism. Information is provided on two dietary problems (candidiasis and gluten/casein intolerance) and case histories of two three-year-old children with autism are provided to illustrate each of the problems. Diet and vitamin therapy interventions are also described.…

  8. Are There Enhanced MBP Autoantibodies in Autism?

    Science.gov (United States)

    Libbey, Jane E.; Coon, Hilary H.; Kirkman, Nikki J.; Sweeten, Thayne L.; Miller, Judith N.; Stevenson, Edward K.; Lainhart, Janet E.; McMahon, William M.; Fujinami, Robert S.

    2008-01-01

    Autoantibodies to central nervous system antigens, such as myelin basic protein (MBP), may play a role in autism. We measured autoantibody titers to MBP in children with autism, both classic onset and regressive onset forms, controls (healthy age- and gender-matched) and individuals with Tourette syndrome via enzyme-linked immunosorbent assays. We…

  9. Teaching Children with Autism to Request Information

    Science.gov (United States)

    Shillingsburg, M. Alice; Valentino, Amber L.; Bowen, Crystal N.; Bradley, Danielle; Zavatkay, Dana

    2011-01-01

    Question asking behavior, or requesting information, is often deficient in children with autism and can prove challenging to teach. Currently, there exists a paucity of research regarding the types of teaching strategies that are effective in teaching children with autism this crucial skill. The purpose of the present study was to examine…

  10. Trends in Autism Prevalence: Diagnostic Substitution Revisited

    Science.gov (United States)

    Coo, Helen; Ouellette-Kuntz, Helene; Lloyd, Jennifer E. V.; Kasmara, Liza; Holden, Jeanette J. A.; Lewis, M. E. Suzanne

    2008-01-01

    There has been little evidence to support the hypothesis that diagnostic substitution may contribute to increases in the administrative prevalence of autism. We examined trends in assignment of special education codes to British Columbia (BC) school children who had an autism code in at least 1 year between 1996 and 2004, inclusive. The proportion…

  11. Early Identification of Autism: Implications for Counselors

    Science.gov (United States)

    Layne, Christina Mann

    2007-01-01

    The author reviews an article (L. C. Eaves & H. H. Ho, 2004) published in the Journal of Autism and Developmental Disorders that discussed screening tools and diagnostic assessments used to identify autism in 2-year-olds as well as a follow-up study 2 1/2 years later. The author also provides a discussion of the impact of receiving this diagnosis…

  12. Somatosensory evoked potentials in children with autism

    Directory of Open Access Journals (Sweden)

    Hanan Galal Azouz

    2014-06-01

    Conclusions: Children with autism have abnormal SSEP changes and were significantly related to the presence of sensory abnormalities, indicating central cortical dysfunction of somatosensory area. On the other hand, these abnormal SSEP changes were not related to the severity of autism.

  13. [Recognition of autism spectrum disorders in adults

    NARCIS (Netherlands)

    Hengeveld, M.W.; Londen, L van; Gaag, R.J. van der

    2008-01-01

    Autism spectrum disorder was diagnosed in three adults. The first patient, a married man aged 41, was referred to a psychiatrist with 'impending burn-out'. The second was a 32-year-old male student with schizophrenia and a depressive disorder who was referred to a centre for autism because a friend

  14. Autism Spectrum Disorders (Pervasive Developmental Disorders)

    Science.gov (United States)

    Strock, Margaret

    2007-01-01

    This booklet focuses on classic autism, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder. The booklet describes possible indicators of autism spectrum disorders (ASD), their diagnosis, available aids, treatment options, adults…

  15. Brief Report: Stereotypes in Autism Revisited

    Science.gov (United States)

    Kirchner, Jennifer Christina; Schmitz, Florian; Dziobek, Isabel

    2012-01-01

    Autism involves core impairments in social cognition. Given that social learning underlies the acquisition of stereotypes, it was hypothesized that use of stereotypes would be reduced in autism. Contrary to this prediction, previous studies found the same use of stereotypes in autistic individuals as in controls. Measurement of stereotypes,…

  16. Cognitive Underpinnings of Pretend Play in Autism.

    Science.gov (United States)

    Rutherford, M. D.; Rogers, Sally J.

    2003-01-01

    A study examined the cognitive underpinnings of spontaneous and prompted pretend play in 28 children with autism (ages 2-3), 24 children with developmental disorders, and 26 controls (ages 1-3). Children with autism were significantly delayed on pretend play scores. They also had significant deficits in a theory of mind measure. (Contains…

  17. Response to Vestibular Sensory Events in Autism

    Science.gov (United States)

    Kern, Janet K.; Garver, Carolyn R.; Grannemann, Bruce D.; Trivedi, Madhukar H.; Carmody, Thomas; Andrews, Alonzo A.; Mehta, Jyutika A.

    2007-01-01

    The purpose of this study was to examine the response to vestibular sensory events in persons with autism. The data for this study was collected as part of a cross-sectional study that examined sensory processing (using the Sensory Profile) in 103 persons with autism, 3-43 years of age, compared to age- and gender-matched community controls. The…

  18. ECT and Autism--Making the Connection.

    Science.gov (United States)

    McCloskey-Dale, Susan R.

    This report describes using Environmental Communication Teaching (ECT) to assist students with autism spectrum disorder. The paper compares several key points of the ECT approach with other common intervention methods for students with autism and identifies the features of intervention programs or approaches that should be considered when planning…

  19. ASD: What Are Autism Spectrum Disorders? | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... any part of a vaccine or combination of vaccines causes autism. There is also no proof that any material ... research on autism and vaccines. Its Concerns About Vaccines and Autism ( www.cdc.gov/vaccinesafety/Concerns/Autism/Index.html ) ...

  20. Prospective cognitions in anxiety and depression: Replication and methodological extension

    OpenAIRE

    Stoeber, Joachim

    2000-01-01

    The present study presents a replication and methodological extension of MacLeod, Tata, Kentish, and Jacobsen (1997) with a nonclinical sample, using future-directed imagery to assess prospective cognitions. Results showed that only anxiety (but not depression) was related to enhanced imagery for future negative events. Both anxiety and depression showed significant zero-order correlations with reduced imagery for future positive events. However, when the overlap between anxiety and depressio...

  1. Longitudinal changes in cortical thickness in autism and typical development

    Science.gov (United States)

    Prigge, Molly B. D.; Nielsen, Jared A.; Froehlich, Alyson L.; Abildskov, Tracy J.; Anderson, Jeffrey S.; Fletcher, P. Thomas; Zygmunt, Kristen M.; Travers, Brittany G.; Lange, Nicholas; Alexander, Andrew L.; Bigler, Erin D.; Lainhart, Janet E.

    2014-01-01

    The natural history of brain growth in autism spectrum disorders remains unclear. Cross-sectional studies have identified regional abnormalities in brain volume and cortical thickness in autism, although substantial discrepancies have been reported. Preliminary longitudinal studies using two time points and small samples have identified specific regional differences in cortical thickness in the disorder. To clarify age-related trajectories of cortical development, we examined longitudinal changes in cortical thickness within a large mixed cross-sectional and longitudinal sample of autistic subjects and age- and gender-matched typically developing controls. Three hundred and forty-five magnetic resonance imaging scans were examined from 97 males with autism (mean age = 16.8 years; range 3–36 years) and 60 males with typical development (mean age = 18 years; range 4–39 years), with an average interscan interval of 2.6 years. FreeSurfer image analysis software was used to parcellate the cortex into 34 regions of interest per hemisphere and to calculate mean cortical thickness for each region. Longitudinal linear mixed effects models were used to further characterize these findings and identify regions with between-group differences in longitudinal age-related trajectories. Using mean age at time of first scan as a reference (15 years), differences were observed in bilateral inferior frontal gyrus, pars opercularis and pars triangularis, right caudal middle frontal and left rostral middle frontal regions, and left frontal pole. However, group differences in cortical thickness varied by developmental stage, and were influenced by IQ. Differences in age-related trajectories emerged in bilateral parietal and occipital regions (postcentral gyrus, cuneus, lingual gyrus, pericalcarine cortex), left frontal regions (pars opercularis, rostral middle frontal and frontal pole), left supramarginal gyrus, and right transverse temporal gyrus, superior parietal lobule, and

  2. Parent-Reported Gastro-Intestinal Symptoms in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Chandler, Susie; Carcani-Rathwell, Iris; Charman, Tony; Pickles, Andrew; Loucas, Tom; Meldrum, David; Simonoff, Emily; Sullivan, Peter; Baird, Gillian

    2013-01-01

    The objective of this study is to investigate whether parentally-reported gastro-intestinal (GI) symptoms are increased in a population-derived sample of children with autism spectrum disorders (ASD) compared to controls. Participants included 132 children with ASD and 81 with special educational needs (SEN) but no ASD, aged 10-14 years plus 82…

  3. Melatonin in Children with Autism Spectrum Disorders: Endogenous and Pharmacokinetic Profiles in Relation to Sleep

    Science.gov (United States)

    Goldman, Suzanne E.; Adkins, Karen W.; Calcutt, M. Wade; Carter, Melissa D.; Goodpaster, Robert L.; Wang, Lily; Shi, Yaping; Burgess, Helen J.; Hachey, David L.; Malow, Beth A.

    2014-01-01

    Supplemental melatonin has been used to treat sleep onset insomnia in children with autism spectrum disorders (ASD), although the mechanism of action is uncertain. We assessed endogenous and supplemental melatonin profiles in relation to sleep in nine children with ASD. In endogenous samples, maximal melatonin concentration (C[subscript max]) and…

  4. Sex Differences in Internalizing Problems during Adolescence in Autism Spectrum Disorder

    Science.gov (United States)

    Oswald, Tasha M.; Winter-Messiers, Mary Ann; Gibson, Brandon; Schmidt, Alexandra M.; Herr, Cynthia M.; Solomon, Marjorie

    2016-01-01

    We hypothesized that the double hit conferred by sex and diagnosis increases the risk for internalizing disorders in adolescent females with autism spectrum disorder (ASD). In a sample of 32 adolescents with ASD and 32 controls, we examined the effects of sex, diagnostic factors, and developmental stages on depression and anxiety. A 3-way…

  5. Theory of mind in children with 'lesser variants' of autism : a longitudinal study

    NARCIS (Netherlands)

    Serra, M; Loth, FL; van Geert, PLC; Hurkens, E; Minderaa, RB

    2002-01-01

    Background: The study investigated the development of theory-of-mind (ToM) knowledge in children with 'lesser variants' of autism (PDD-NOS) over a period thought to be critical for ToM development (i.e., 3 to 5 years of age). Method: The sample included 11 children with PDD-NOS; 23 normally developi

  6. The Effect of Sensory Stories on Targeted Behaviors in Preschool Children with Autism

    Science.gov (United States)

    Marr, Deborah; Mika, Heather; Miraglia, Jennifer; Roerig, Maxine; Sinnott, Rebecca

    2007-01-01

    This study examined the effectiveness of Sensory Stories on "circle time" behaviors in preschool children with autism. This single-system ABA design with a convenience sample of four participants consisted of one week for each A phase and two weeks for the B phase. The intervention phase (B) consisted of reading a Sensory Story from one to three…

  7. A multimodal approach to emotion recognition ability in autism spectrum disorders

    NARCIS (Netherlands)

    C.R.G. Jones; A. Pickles; M. Falcaro; A.J.S. Marsden; F. Happé; S.K. Scott; D. Sauter; J. Tregay; R.J. Phillips; G. Baird; E. Simonoff; T. Charman

    2011-01-01

    Background:  Autism spectrum disorders (ASD) are characterised by social and communication difficulties in day-to-day life, including problems in recognising emotions. However, experimental investigations of emotion recognition ability in ASD have been equivocal, hampered by small sample sizes, narr

  8. Remediation of Deficits in Recognition of Facial Emotions in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Weinger, Paige M.; Depue, Richard A.

    2011-01-01

    This study evaluated the efficacy of the Mind Reading interactive computer software to remediate emotion recognition deficits in children with autism spectrum disorders (ASD). Six unmedicated children with ASD and 11 unmedicated non-clinical control subjects participated in the study. The clinical sample used the software for five sessions. The…

  9. A Multimodal Approach to Emotion Recognition Ability in Autism Spectrum Disorders

    Science.gov (United States)

    Jones, Catherine R. G.; Pickles, Andrew; Falcaro, Milena; Marsden, Anita J. S.; Happe, Francesca; Scott, Sophie K.; Sauter, Disa; Tregay, Jenifer; Phillips, Rebecca J.; Baird, Gillian; Simonoff, Emily; Charman, Tony

    2011-01-01

    Background: Autism spectrum disorders (ASD) are characterised by social and communication difficulties in day-to-day life, including problems in recognising emotions. However, experimental investigations of emotion recognition ability in ASD have been equivocal, hampered by small sample sizes, narrow IQ range and over-focus on the visual modality.…

  10. Learning Curve Analyses in Neurodevelopmental Disorders: Are Children with Autism Spectrum Disorder Truly Visual Learners?

    Science.gov (United States)

    Erdodi, Laszlo; Lajiness-O'Neill, Renee; Schmitt, Thomas A.

    2013-01-01

    Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly…

  11. How Useful Is the Social Communication Questionnaire in Toddlers at Risk of Autism Spectrum Disorder?

    Science.gov (United States)

    Oosterling, Iris; Rommelse, Nanda; De Jonge, Maretha; Van Der Gaag, Rutger Jan; Swinkels, Sophie; Roos, Sascha; Visser, Janne; Buitelaar, Jan

    2010-01-01

    Background: The Social Communication Questionnaire (SCQ) is a screening instrument with established validity against the Autism Diagnostic Interview-Revised (ADI-R) in children aged 4 years and older. Indices of diagnostic accuracy have been shown to be strong in school-aged samples; however, relatively little is known about the performance of the…

  12. The Screen for Social Interaction (SSI): A Screening Measure for Autism Spectrum Disorders in Preschoolers

    Science.gov (United States)

    Ghuman, Jaswinder K.; Leone, Sarah L.; Lecavalier, Luc; Landa, Rebecca J.

    2011-01-01

    We report on the preliminary validity and utility of the "Ghuman-Folstein Screen for Social Interaction" ("SSI"), a measure of social interaction that can serve to screen for autism spectrum disorders (ASDs) in clinical samples of young high-risk children. Caregivers of 350 children (176 younger participants, ages 24-42 months, mean age = 34.1…

  13. Blood-Based Gene Expression Signatures of Infants and Toddlers with Autism

    Science.gov (United States)

    Glatt, Stephen J.; Tsuang, Ming T.; Winn, Mary; Chandler, Sharon D.; Collins, Melanie; Lopez, Linda; Weinfeld, Melanie; Carter, Cindy; Schork, Nicholas; Pierce, Karen; Courchesne, Eric

    2012-01-01

    Objective: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with…

  14. Brief Report: Non-Right-Handedness within the Autism Spectrum Disorder

    Science.gov (United States)

    Rysstad, Anne Langseth; Pedersen, Arve Vorland

    2016-01-01

    A larger distribution of left-handedness in the population of Autism Spectrum Disorder has been repeatedly reported. Despite of this, the sample sizes in the individual study's are too small for any generalization to be made. Using both description-based and citation-based searches, the present review combines the individual results in order to…

  15. The Relationship of Everyday Executive Function and Autism Spectrum Disorder Symptoms in Preschoolers

    Science.gov (United States)

    Etemad, Pontea

    2010-01-01

    The purpose of this study was to examine the relationship between executive functioning (EF), as manifested in everyday behavior, autism spectrum disorder (ASD) symptoms, and adaptive behaviors in a sample of preschoolers with ASD. Quantitative data from a clinical database were analyzed for this study. Participants in the ASD group (n=52) were a…

  16. Real World Executive Control Impairments in Preschoolers with Autism Spectrum Disorders

    Science.gov (United States)

    Smithson, Pontea Etemad; Kenworthy, Lauren; Wills, Meagan C.; Jarrett, Marian; Atmore, Kathleen; Yerys, Benjamin E.

    2013-01-01

    This study examined executive control (EC) in preschoolers with and without autism spectrum disorders (ASD) using the Behavior Rating Inventory of Executive Functions-Preschool Version (BRIEF-P). ASD participants were a clinically referred sample of preschoolers; the typically developing control group was selected from the BRIEF-P standardization…

  17. Health Services Utilization among Children with and without Autism Spectrum Disorders

    Science.gov (United States)

    Cummings, Janet R.; Lynch, Frances L.; Rust, Kristal C.; Coleman, Karen J.; Madden, Jeanne M.; Owen-Smith, Ashli A.; Yau, Vincent M.; Qian, Yinge; Pearson, Kathryn A.; Crawford, Phillip M.; Massolo, Maria L.; Quinn, Virginia P.; Croen, Lisa A.

    2016-01-01

    Using data from multiple health systems (2009-2010) and the largest sample to date, this study compares health services use among youth with and without an autism spectrum disorder (ASD)--including preventive services not previously studied. To examine these differences, we estimated logistic and count data models, controlling for demographic…

  18. Pain as a Predictor of Sleep Problems in Youth with Autism Spectrum Disorders

    Science.gov (United States)

    Tudor, Megan E.; Walsh, Caitlin E.; Mulder, Emile C.; Lerner, Matthew D.

    2015-01-01

    Evidence suggests that pain interferes with sleep in youth with developmental disabilities. This study examined the relationship between pain and sleep problems in a sample of youth with parent-reported autism spectrum disorder (N = 62). Mothers reported on standardized measures of pain and sleep problems. Youth demonstrated atypically high levels…

  19. Empathy in Children with Autism and Conduct Disorder: Group-Specific Profiles and Developmental Aspects

    Science.gov (United States)

    Schwenck, Christina; Mergenthaler, Julia; Keller, Katharina; Zech, Julie; Salehi, Sarah; Taurines, Regina; Romanos, Marcel; Schecklmann, Martin; Schneider, Wolfgang; Warnke, Andreas; Freitag, Christine M.

    2012-01-01

    Background: A deficit in empathy is discussed to underlie difficulties in social interaction of children with autism spectrum disorder (ASD) and conduct disorder (CD). To date, no study has compared children with ASD and different subtypes of CD to describe disorder-specific empathy profiles in clinical samples. Furthermore, little is known about…

  20. Agent Familiarity and Emotional Context Influence the Everyday Empathic Responding of Young Children with Autism

    Science.gov (United States)

    Hudry, Kristelle; Slaughter, Virginia

    2009-01-01

    Whereas research addressing empathy in autism spectrum disorders (ASD) tends to employ pencil-and-paper and laboratory-based behavioural methods, the current study is novel in eliciting parent-report data regarding everyday empathy, sampling various emotional situations regularly encountered by children. Parents of typically-developing children…

  1. Motor Milestone Development in Young Children with Autism Spectrum Disorders: An Exploratory Study

    Science.gov (United States)

    Liu, Ting

    2012-01-01

    This study aimed to determine if a sample of children currently diagnosed with autism spectrum disorders (ASDs) would have shown motor milestone delays before age three as compared to typically developing children. Given delays in motor skills, the study also strived to determine which specific skills might be delayed. Parents of 44 children who…

  2. Prevalence of Autism Spectrum Disorders in Guanajuato, Mexico: The Leon Survey

    Science.gov (United States)

    Fombonne, Eric; Marcin, Carlos; Manero, Ana Cecilia; Bruno, Ruth; Diaz, Christian; Villalobos, Michele; Ramsay, Katrina; Nealy, Benjamin

    2016-01-01

    There are no epidemiological data on autism for Mexico. This study was conducted to generate a first estimate of ASD prevalence in Mexico. We surveyed children age eight in Leon (Guanajuato). The sample was stratified in two strata: (1) children having special education and medical records (SEMR; N = 432) and (2) children attending regular schools…

  3. Parent Expectations Mediate Outcomes for Young Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Kirby, Anne V.

    2016-01-01

    Understanding the complex relationships among factors that may predict the outcomes of young adults with autism spectrum disorder (ASD) is of utmost importance given the increasing population undergoing and anticipating the transition to adulthood. With a sample of youth with ASD (n = 1170) from the National Longitudinal Transition Study-2,…

  4. Psychiatric disorders in individuals diagnosed with infantile autism as children: a case control study

    DEFF Research Database (Denmark)

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

    2008-01-01

    The objective of this study was to compare the prevalence and types of psychiatric disorders in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with psychiatric disorders in 336 matched controls from the general population using data from the nationwide Danish...

  5. Psychiatric disorders in individuals diagnosed with infantile autism as children: A case control study

    DEFF Research Database (Denmark)

    Mouridsen, S.E.; Rich, B.; Isager, T.;

    2008-01-01

    The objective of this study was to compare the prevalence and types of psychiatric disorders in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with psychiatric disorders in 336 matched controls from the general population using data from the nationwide Danish...

  6. A longitudinal study of gastrointestinal diseases in individuals diagnosed with infantile autism as children

    DEFF Research Database (Denmark)

    Mouridsen, Svend-Erik; Rich, B; Isager, T

    2009-01-01

    Abstract Background A number of studies have indicated a link between gastrointestinal (GI) diseases and autism spectrum disorders. Method The objective of this study was to compare the prevalence and types of GI diseases in a clinical sample of 118 individuals diagnosed as children with infantile...

  7. The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Shriberg, Lawrence D.; Paul, Rhea; Black, Lois M.; van Santen, Jan P.

    2011-01-01

    In a sample of 46 children aged 4-7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants' speech, prosody, and voice were compared with data from 40 typically-developing children, 13…

  8. Quality of Life in Autism across the Lifespan: A Meta-Analysis

    Science.gov (United States)

    van Heijst, Barbara F. C.; Geurts, Hilde M.

    2015-01-01

    Autism is a lifelong neurodevelopmental disorder, with a known impact on quality of life. Yet the developmental trajectory of quality of life is not well understood. First, the effect of age on quality of life was studied with a meta-analysis. Our meta-analysis included 10 studies (published between 2004 and 2012) with a combined sample size of…

  9. Brief Report: Parent Verbal Responsiveness and Language Development in Toddlers on the Autism Spectrum

    Science.gov (United States)

    Haebig, Eileen; McDuffie, Andrea; Ellis Weismer, Susan

    2013-01-01

    This study examined the longitudinal associations between parent verbal responsiveness and language 3 years later in 34 toddlers with a diagnosis of an autism spectrum disorder. Parent-child play samples were coded for child engagement and communication acts and for parent verbal responsiveness. Measures of responsive verbal behaviors were used to…

  10. Unmet Dental Needs and Barriers to Dental Care among Children with Autism Spectrum Disorders

    Science.gov (United States)

    Lai, Bien; Milano, Michael; Roberts, Michael W.; Hooper, Stephen R.

    2012-01-01

    Mail-in pilot-tested questionnaires were sent to a stratified random sample of 1,500 families from the North Carolina Autism Registry. Multivariate logistic regression analysis was used to determine the significance of unmet dental needs and other predictors. Of 568 surveys returned (Response Rate = 38%), 555 were complete and usable. Sixty-five…

  11. Compassionate Parenting as a Key to Satisfaction, Efficacy and Meaning among Mothers of Children with Autism

    Science.gov (United States)

    Conti, Regina

    2015-01-01

    Two studies examine the role of compassionate and self-image parenting goals in the experience of mothers of children with autism. In Study 1, a comparison sample was included. Study 1 included measures of parenting goals, life satisfaction, family life satisfaction, parenting satisfaction, and meaning in life. Study 2 incorporated a measure of…

  12. Influences of Semantic and Prosodic Cues on Word Repetition and Categorization in Autism

    Science.gov (United States)

    Singh, Leher; Harrow, MariLouise S.

    2014-01-01

    Purpose: To investigate sensitivity to prosodic and semantic cues to emotion in individuals with high-functioning autism (HFA). Method: Emotional prosody and semantics were independently manipulated to assess the relative influence of prosody versus semantics on speech processing. A sample of 10-year-old typically developing children (n = 10) and…

  13. Neonatal levels of neurotrophic factors and risk of autism spectrum disorders

    DEFF Research Database (Denmark)

    Abdallah, Morsi; Mortensen, E L; Greaves-Lord, K;

    2013-01-01

    To examine levels of 3 neurotrophic factors (NTFs): Brain derived neurotrophic factor (BDNF), Neurotrophin-4 (NT-4), and transforming growth factor-β (TGF-β) in dried blood spot samples of neonates diagnosed with autism spectrum disorders (ASD) later in life and frequency-matched controls....

  14. Gender Differences in Co-Morbid Psychopathology and Clinical Management in Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Tsakanikos, Elias; Underwood, Lisa; Kravariti, Eugenia; Bouras, Nick; McCarthy, Jane

    2011-01-01

    The present study examined rates of co-morbid psychopathology and clinical management/care pathways in adult females (N = 50) and males (N = 100) with autism spectrum disorders (ASD) and intellectual disability (ID) living in community settings. We also compared a sub-sample (N = 60) with ASD to an age-, gender- and ID-matched control group (N =…

  15. Hepatitis B vaccination of male neonates and autism diagnosis, NHIS 1997-2002.

    Science.gov (United States)

    Gallagher, Carolyn M; Goodman, Melody S

    2010-01-01

    Universal hepatitis B vaccination was recommended for U.S. newborns in 1991; however, safety findings are mixed. The association between hepatitis B vaccination of male neonates and parental report of autism diagnosis was determined. This cross-sectional study used weighted probability samples obtained from National Health Interview Survey 1997-2002 data sets. Vaccination status was determined from the vaccination record. Logistic regression was used to estimate the odds for autism diagnosis associated with neonatal hepatitis B vaccination among boys age 3-17 years, born before 1999, adjusted for race, maternal education, and two-parent household. Boys vaccinated as neonates had threefold greater odds for autism diagnosis compared to boys never vaccinated or vaccinated after the first month of life. Non-Hispanic white boys were 64% less likely to have autism diagnosis relative to nonwhite boys. Findings suggest that U.S. male neonates vaccinated with the hepatitis B vaccine prior to 1999 (from vaccination record) had a threefold higher risk for parental report of autism diagnosis compared to boys not vaccinated as neonates during that same time period. Nonwhite boys bore a greater risk.

  16. Child characteristics associated with outcome for children with autism in a school-based behavioral intervention.

    Science.gov (United States)

    Pellecchia, Melanie; Connell, James E; Kerns, Connor M; Xie, Ming; Marcus, Steven C; Mandell, David S

    2016-04-01

    This study examined the extent to which clinical and demographic characteristics predicted outcome for children with autism spectrum disorder. Participants included 152 students with autism spectrum disorder in 53 kindergarten-through-second-grade autism support classrooms in a large urban public school district. Associations between child characteristics (including age, language ability, autism severity, social skills, adaptive behavior, co-occurring psychological symptoms, and restrictive and repetitive behavior) and outcome, as measured by changes in cognitive ability following one academic year of an intervention standardized across the sample were evaluated using linear regression with random effects for classroom. While several scales and subscales had statistically significant bivariate associations with outcome, in adjusted analysis, only age and the presence of symptoms associated with social anxiety, such as social avoidance and social fearfulness, as measured through the Child Symptom Inventory-4, were associated with differences in outcome. The findings regarding the role of social anxiety are new and have important implications for treatment. Disentangling the construct of social anxiety to differentiate between social fearfulness and social motivation has important implications for shifting the focus of early treatment for children with autism spectrum disorder. PMID:25911092

  17. Mechanism of nitrogen metabolism-related parameters and enzyme activities in the pathophysiology of autism

    Directory of Open Access Journals (Sweden)

    Abu Shmais Ghada A

    2012-02-01

    Full Text Available Abstract Background There is evidence that impaired metabolism play an important role in the etiology of many neuropsychiatric disorders. Although this has not been investigated to date, several recent studies proposed that nitrogen metabolism-related parameters may have a pathophysiological role in autism. Methods The study enrolled 20 Saudi boys with autism aged 4 to 12 years and 20 healthy controls matched for age and gender. Levels of creatine, urea, ammonia, gamma-aminobutyric acid (GABA, glutamate:glutamine (Glu:Gln ratio, and enzymatic activities of glutamate dehydrogenase, 5'-nucleotidase, and adenosine deaminase (ADA were determined in plasma samples from both groups. Results We found a significant elevation of creatine, 5'-nucleotidase, GABA, and glutamic acid and a significant decrease in the enzymatic activity of ADA and glutamine level in patients with autism compared with healthy controls. The most significant variation between the two groups was found in the Glu:Gln ratio. Conclusion A raised Glu:Gln ratio together with positive correlations in creatine, GABA, and 5'-nucleotidase levels could contribute to the pathophysiology of autism, and might be useful diagnostic markers. The mechanism through which these parameters might be related to autism is discussed in detail.

  18. Depletion of Cellular Pre-Replication Complex Factors Results in Increased Human Cytomegalovirus DNA Replication

    OpenAIRE

    Tamara Evans Braun; Emma Poole; John Sinclair

    2012-01-01

    Although HCMV encodes many genes required for the replication of its DNA genome, no HCMV-encoded orthologue of the origin binding protein, which has been identified in other herpesviruses, has been identified. This has led to speculation that HCMV may use other viral proteins or possibly cellular factors for the initiation of DNA synthesis. It is also unclear whether cellular replication factors are required for efficient replication of viral DNA during or after viral replication origin recog...

  19. Hypotension and Environmental Noise: A Replication Study

    Science.gov (United States)

    Lercher, Peter; Widmann, Ulrich; Thudium, Jürg

    2014-01-01

    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-physiological routes of actions

  20. 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

  1. 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…

  2. Identification of chemicals that mimic transcriptional changes associated with autism, brain aging and neurodegeneration.

    Science.gov (United States)

    Pearson, Brandon L; Simon, Jeremy M; McCoy, Eric S; Salazar, Gabriela; Fragola, Giulia; Zylka, Mark J

    2016-03-31

    Environmental factors, including pesticides, have been linked to autism and neurodegeneration risk using retrospective epidemiological studies. Here we sought to prospectively identify chemicals that share transcriptomic signatures with neurological disorders, by exposing mouse cortical neuron-enriched cultures to hundreds of chemicals commonly found in the environment and on food. We find that rotenone, a pesticide associated with Parkinson's disease risk, and certain fungicides, including pyraclostrobin, trifloxystrobin, famoxadone and fenamidone, produce transcriptional changes in vitro that are similar to those seen in brain samples from humans with autism, advanced age and neurodegeneration (Alzheimer's disease and Huntington's disease). These chemicals stimulate free radical production and disrupt microtubules in neurons, effects that can be reduced by pretreating with a microtubule stabilizer, an antioxidant, or with sulforaphane. Our study provides an approach to prospectively identify environmental chemicals that transcriptionally mimic autism and other brain disorders.

  3. A Video Digital Library to Support Physicians’ Decision-making About Autism

    Directory of Open Access Journals (Sweden)

    Matthew A. Griffin

    2014-01-01

    Full Text Available A prototype Digital Video Library was developed as part of a project to assist rural primary care clinics with diagnosis of autism, funded by the National Network of Libraries of Medicine. The Digital Video Library takes play sample videos generated by a rural clinic and makes it available to experts at the Autism Spectrum Disorders (ASD Clinic at The University of Alabama. The experts are able to annotate segments of the video using an integrated version of the Childhood Autism Ratings Scale-Second Edition Standard Version (CARS2. The Digital Video Library then extracts the annotated segments, and provides a robust search and browse feature. The videos can then be accessed by the subject's primary care physician. This article summarizes the development and features of the Digital Video Library.

  4. Psychometric properties of a new measure to assess autism spectrum disorder in DSM-5.

    Science.gov (United States)

    Coolidge, Frederick L; Marle, Peter D; Rhoades, Camille S; Monaghan, Patricia; Segal, Daniel L

    2013-01-01

    This article presents preliminary psychometric properties of a new 45-item scale, the Coolidge Autistic Symptoms Survey (CASS), designed to differentiate between children within the autism spectrum (including Asperger's Disorder) and purportedly normal children, in anticipation of DSM-5 changes, in which a single diagnostic category is proposed: autism spectrum disorder. The final sample (N = 72) consisted of 19 children diagnosed with Asperger's Disorder, 19 children who were considered loners by their parents (without an autism diagnosis), and 34 purportedly normal children. The CASS and the 200-item, DSM-IV-TR aligned, Coolidge Personality and Neuropsychological Inventory were completed by a parent. The CASS had excellent internal scale reliability (α= .97) and test-retest (r = .91) reliability. ANOVA revealed the CASS was able to discriminate significantly among the 3 groups of children. Further research with the CASS appears warranted. PMID:23330630

  5. 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…

  6. The Autism Birth Cohort (ABC:a study of autism spectrum disorders in MoBa

    Directory of Open Access Journals (Sweden)

    Pål Surén

    2014-12-01

    Full Text Available Background: Autism spectrum disorders (ASDs are characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. In most cases, the cause of ASD is likely to be a combination of genetic predisposition and environmental exposures occurring in fetal life or early infancy. Consequently, a prospective pregnancy cohort like MoBa represents an ideal platform for studies of ASDs in children.Methods: The Autism Birth Cohort (ABC Study has identified potential ASD cases in MoBa through questionnaire- based screening, parental and professional referrals, and linkages to the Norwegian Patient Register. ASD diagnoses have been ascertained through in-person clinical assessments and medical record reviews.Current results: By the end of 2012, the ABC Study had identified 518 ASD cases in MoBa. The ASD prevalence in school-age children is 0.7-0.8%, which is in line with nationwide estimates for Norway. The most important source of ASD case identification was registry linkages, while only a minority was detected through early screening. Published findings show that screening at 18 months misses the majority of ASD cases. Analyses of risk factors for ASDs have shown that maternal use of folic acid supplements in early pregnancy may lower the child’s risk of developing ASDs and that paternal obesity appears to increase the child’s risk of ASDs.Future plans: ASD case identification will continue through annual registry linkages and subsequent reviews of medical records. Analyses of plasma samples and RNA samples will be conducted to investigate prenatal and perinatal microbial exposures, innate immune and inflammatory responses, biomarkers of autism risk, and exposures to xenobiotics. Analyses of deciduous teeth will also investigate the effect of medications and environmental toxins. Exome sequencing of DNA from ASD cases and their parents is ongoing, and will elucidate the

  7. Core Challenges of Autism. Sensory aspects of autism

    Directory of Open Access Journals (Sweden)

    Nason William

    2016-10-01

    Full Text Available An american clincal psychologist Bill Nason tells us about the differences in ways of functioning between people on the autistic spectrum and neurotypical people. The third part of his Blue book «The Autism Discussion Page» talks about the sensory differences in autistic people. Sensory hypersensitivity, fragmented or distorted perception, problems of sensoru processing — these are the differences that make the external world experience very special, overwhelming and even painful. The author gives the signs of hyper- and hypo-sensitivity in basical sensory areas. Translated from English by L.G. Borodina

  8. Inferring Where and When Replication Initiates from Genome-Wide Replication Timing Data

    Science.gov (United States)

    Baker, A.; Audit, B.; Yang, S. C.-H.; Bechhoefer, J.; Arneodo, A.

    2012-06-01

    Based on an analogy between DNA replication and one dimensional nucleation-and-growth processes, various attempts to infer the local initiation rate I(x,t) of DNA replication origins from replication timing data have been developed in the framework of phase transition kinetics theories. These works have all used curve-fit strategies to estimate I(x,t) from genome-wide replication timing data. Here, we show how to invert analytically the Kolmogorov-Johnson-Mehl-Avrami model and extract I(x,t) directly. Tests on both simulated and experimental budding-yeast data confirm the location and firing-time distribution of replication origins.

  9. Investigating emotional impairments in adults with autism spectrum disorders and the broader autism phenotype

    OpenAIRE

    Berthoz, Sylvie; Lalanne, Christophe; Crane, Laura; Hill, Elisabeth L.

    2013-01-01

    There is an increasing interest in the socio-affective atypicalities observed in adults with autism spectrum disorder (ASD). The aim of this study was to further explore emotional responsiveness in adults with ASD using well-validated self-reports of alexithymia and extend these with consideration of anhedonia, and to determine whether these features are part of a broader autism phenotype. Thirty-eight adults with ASD, 87 parents of ASD individuals and 47 typical controls completed the Autism...

  10. Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis

    OpenAIRE

    Frazier, Thomas W.; Youngstrom, Eric A.; Embacher, Rebecca; Hardan, Antonio Y.; Constantino, John N.; Law, Paul; Findling, Robert L.; Eng, Charis

    2013-01-01

    Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the So...

  11. The broad autism phenotype predicts child functioning in autism spectrum disorders

    OpenAIRE

    Maxwell, Christina R.; Parish-Morris, Julia; Hsin, Olivia; Bush, Jennifer C; Schultz, Robert T.

    2013-01-01

    Background Broad autism phenotype (BAP) is a milder expression of the social and communication impairments seen in autism spectrum disorders (ASD). While prior studies characterized the BAP in unaffected family members of probands with ASD, the relationship between parental BAP traits and proband symptomatology remains poorly understood. This study utilizes the Broad Autism Phenotype Questionnaire (BAPQ) in parents and the Social Responsiveness Scale (SRS) in children to examine this connecti...

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

    OpenAIRE

    Vasa, Roma A.; Connie Anderson; Marvin, Alison R.; Rebecca E. Rosenberg; J. Kiely Law; Julia Thorn; Geeta Sarphare; Law, Paul A.

    2012-01-01

    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 a...

  13. An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

    Directory of Open Access Journals (Sweden)

    Chung Ren-Hua

    2011-11-01

    Full Text Available Abstract Background Autism spectrum disorder (ASD is a complex neurodevelopmental disorder with a strong genetic component. The skewed prevalence toward males and evidence suggestive of linkage to the X chromosome in some studies suggest the presence of X-linked susceptibility genes in people with ASD. Methods We analyzed genome-wide association study (GWAS data on the X chromosome in three independent autism GWAS data sets: two family data sets and one case-control data set. We performed meta- and joint analyses on the combined family and case-control data sets. In addition to the meta- and joint analyses, we performed replication analysis by using the two family data sets as a discovery data set and the case-control data set as a validation data set. Results One SNP, rs17321050, in the transducin β-like 1X-linked (TBL1X gene [OMIM:300196] showed chromosome-wide significance in the meta-analysis (P value = 4.86 × 10-6 and joint analysis (P value = 4.53 × 10-6 in males. The SNP was also close to the replication threshold of 0.0025 in the discovery data set (P = 5.89 × 10-3 and passed the replication threshold in the validation data set (P = 2.56 × 10-4. Two other SNPs in the same gene in linkage disequilibrium with rs17321050 also showed significance close to the chromosome-wide threshold in the meta-analysis. Conclusions TBL1X is in the Wnt signaling pathway, which has previously been implicated as having a role in autism. Deletions in the Xp22.2 to Xp22.3 region containing TBL1X and surrounding genes are associated with several genetic syndromes that include intellectual disability and autistic features. Our results, based on meta-analysis, joint analysis and replication analysis, suggest that TBL1X may play a role in ASD risk.

  14. Aminoglycoside antibiotics and autism: a speculative hypothesis

    Directory of Open Access Journals (Sweden)

    Manev Hari

    2001-10-01

    Full Text Available Abstract Background Recently, it has been suspected that there is a relationship between therapy with some antibiotics and the onset of autism; but even more curious, some children benefited transiently from a subsequent treatment with a different antibiotic. Here, we speculate how aminoglycoside antibiotics might be associated with autism. Presentation We hypothesize that aminoglycoside antibiotics could a trigger the autism syndrome in susceptible infants by causing the stop codon readthrough, i.e., a misreading of the genetic code of a hypothetical critical gene, and/or b improve autism symptoms by correcting the premature stop codon mutation in a hypothetical polymorphic gene linked to autism. Testing Investigate, retrospectively, whether a link exists between aminoglycoside use (which is not extensive in children and the onset of autism symptoms (hypothesis "a", or between amino glycoside use and improvement of these symptoms (hypothesis "b". Whereas a prospective study to test hypothesis "a" is not ethically justifiable, a study could be designed to test hypothesis "b". Implications It should be stressed that at this stage no direct evidence supports our speculative hypothesis and that its main purpose is to initiate development of new ideas that, eventually, would improve our understanding of the pathobiology of autism.

  15. Ubiquinol Improves Symptoms in Children with Autism

    Directory of Open Access Journals (Sweden)

    Anna Gvozdjáková

    2014-01-01

    Full Text Available 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. Oxidative stress and antioxidants can participate in pathobiochemical mechanisms of autism. Methods. Twenty-four children, aged 3–6 years, with autism according to the DSM IV criteria and using CARS were included in the study. Concentrations of CoQ10-TOTAL, γ- and α-tocopherol, β-carotene, and lipid peroxidation were determined in plasma before and after three months of supportive therapy with ubiquinol at a daily dose 2×50 mg. Data on behavior of the children were collected from parents at the same time. Results. Ubiquinol supportive therapy improved symptoms in children with autism, as communication with parents (in 12%, verbal communication (in 21%, playing games of children (in 42%, sleeping (in 34%, and food rejection (in 17%, with CoQ10-TOTAL plasma level above 2.5 μmol/L. Conclusions. Beneficial effect of ubiquinol in children with autism has been demonstrated for the first time. We assume that plasma concentration of CoQ10-TOTAL and lipid peroxidation could be used as relevant biomarkers of ubiquinol supportive therapy.

  16. Neural Correlates of Visuomotor Learning in Autism.

    Science.gov (United States)

    Sharer, Elizabeth; Crocetti, Deana; Muschelli, John; Barber, Anita D; Nebel, Mary Beth; Caffo, Brian S; Pekar, Jim J; Mostofsky, Stewart H

    2015-12-01

    Motor impairments are prevalent in children with autism spectrum disorder. The Serial Reaction Time Task, a well-established visuomotor sequence learning probe, has produced inconsistent behavioral findings in individuals with autism. Moreover, it remains unclear how underlying neural processes for visuomotor learning in children with autism compare to processes for typically developing children. Neural activity differences were assessed using functional magnetic resonance imaging during a modified version of the Serial Reaction Time Task in children with and without autism. Though there was no group difference in visuomotor sequence learning, underlying patterns of neural activation significantly differed when comparing sequence (i.e., learning) to random (i.e., nonlearning) blocks. Children with autism demonstrated decreased activity in brain regions implicated in visuomotor sequence learning: superior temporal sulcus and posterior cingulate cortex. The findings implicate differences in brain mechanisms that support initial sequence learning in autism and can help explain behavioral observations of autism-associated impairments in skill development (motor, social, communicative) reliant on visuomotor integration.

  17. SNP analyses of growth factor genes EGF, TGFβ-1, and HGF reveal haplotypic association of EGF with autism

    International Nuclear Information System (INIS)

    Autism is a pervasive neurodevelopmental disorder diagnosed in early childhood. Growth factors have been found to play a key role in the cellular differentiation and proliferation of the central and peripheral nervous systems. Epidermal growth factor (EGF) is detected in several regions of the developing and adult brain, where, it enhances the differentiation, maturation, and survival of a variety of neurons. Transforming growth factor-β (TGFβ) isoforms play an important role in neuronal survival, and the hepatocyte growth factor (HGF) has been shown to exhibit neurotrophic activity. We examined the association of EGF, TGFβ1, and HGF genes with autism, in a trio association study, using DNA samples from families recruited to the Autism Genetic Resource Exchange; 252 trios with a male offspring scored for autism were selected for the study. Transmission disequilibrium test revealed significant haplotypic association of EGF with autism. No significant SNP or haplotypic associations were observed for TGFβ1 or HGF. Given the role of EGF in brain and neuronal development, we suggest a possible role of EGF in the pathogenesis of autism

  18. Does Rubella Cause Autism: A 2015 Reappraisal?

    Science.gov (United States)

    Hutton, Jill

    2016-01-01

    In the 1970s, Stella Chess found a high prevalence of autism in children with congenital rubella syndrome (CRS), 200 times that of the general population at the time. Many researchers quote this fact to add proof to the current theory that maternal infection with immune system activation in pregnancy leads to autism in the offspring. This rubella and autism association is presented with the notion that rubella has been eliminated in today's world. CRS cases are no longer typically seen; yet, autistic children often share findings of CRS including deafness, congenital heart defects, and to a lesser extent visual changes. Autistic children commonly have hyperactivity and spasticity, as do CRS children. Both autistic and CRS individuals may develop type 1 diabetes as young adults. Neuropathology of CRS infants may reveal cerebral vasculitis with narrowed lumens and cerebral necrosis. Neuroradiological findings of children with CRS show calcifications, periventricular leukomalacia, and dilated perivascular spaces. Neuroradiology of autism has also demonstrated hyperintensities, leukomalacia, and prominent perivascular spaces. PET studies of autistic individuals exhibit decreased perfusion to areas of the brain similarly affected by rubella. In both autism and CRS, certain changes in the brain have implicated the immune system. Several children with autism lack antibodies to rubella, as do children with CRS. These numerous similarities increase the probability of an association between rubella virus and autism. Rubella and autism cross many ethnicities in many countries. Contrary to current belief, rubella has not been eradicated and globally affects up to 5% of pregnant women. Susceptibility continues as vaccines are not given worldwide and are not fully protective. Rubella might still cause autism, even in vaccinated populations. PMID:26869906

  19. Does rubella cause autism: a 2015 reappraisal?

    Directory of Open Access Journals (Sweden)

    Jill eHutton

    2016-02-01

    Full Text Available In the 1970s, Stella Chess found a high prevalence of autism in children with congenital rubella syndrome (CRS, 200 times that of the general population at the time. Many researchers quote this fact to add proof to the current theory that maternal infection with immune system activation in pregnancy leads to autism in the offspring. This rubella and autism association is presented with the notion that rubella has been eliminated in today’s world. CRS cases are no longer typically seen, yet autistic children often share findings of CRS including deafness, congenital heart defects and to a lesser extent visual changes. Autistic children commonly have hyperactivity and spasticity, as do CRS children. Both autistic and CRS individuals may develop type 1 diabetes as young adults. Neuropathology of CRS infants may reveal cerebral vasculitis with narrowed lumens and cerebral necrosis. Neuroradiologic findings of children with CRS show calcifications, periventricular leukomalacia, and dilated perivascular spaces. Neuroradiology of autism has also demonstrated hyperintensities, leukomalacia and prominent perivascular spaces. PET studies of autistic individuals exhibit decreased perfusion to areas of the brain similarly affected by rubella. In both autism and CRS, certain changes in the brain have implicated the immune system. Several children with autism lack antibodies to rubella, as do children with CRS. These numerous similarities increase the probability of an association between rubella virus and autism.Rubella and autism cross many ethnicities in many countries. Contrary to current belief, rubella has not been eradicated and globally affects up to 5% of pregnant women. Susceptibility continues as vaccines are not given worldwide and are not fully protective. Rubella might still cause autism, even in vaccinated populations.

  20. [Autism: exploring historical psychiatric and psychological concepts].

    Science.gov (United States)

    Kumbier, E; Haack, K; Herpertz, S C

    2008-08-01

    Autism today is a widely used term, yet what is understood by autism has changed considerably since first being introduced in scientific discourse almost 100 years ago. Autism is one example for the influence of the psychoanalytic school of Sigmund Freud on scientific psychiatry at the beginning of the 20th century. In particular psychoanalysis had an impact on Eugen Bleuler's concept of schizophrenia. The Swiss psychiatrist did not only acknowledge and follow a biological, but also a psychological approach to psychiatry and thus opened up his subject to psychoanalytic thoughts. This paper provides insights into the term's conceptual history--or, more specifically and precisely--sheds light on the expansion of the term's scope, which has gotten to be used for more and more symptoms and phenomena. When Bleuler first presented the term autism, he used it to refer to a classical schizophrenic symptom. Since, however, Bleuler was not very specific and exclusive in his definition, the term was soon used for other phenomena as well, such as to describe a schizoid symptom in the sense of today's schizoid personality disorder (schizoid autism). The concepts of autistic hebephrenia and depressive autism are further examples how the term was used and give insight into how the contents behind the term changed, got less and less specific and widened its scope. Due to its growing vagueness its suitability and usability as a psychopathological term decreased. This process further was strengthened when the word autism got more and more widely used in colloquial language for different aspects of day-to-day routine and thinking. Thus in psychiatry today, autism is exclusively used in connection with the so-called autism spectrum disorders, but has, as other formerly exclusively technical terms, different and rather unspecific meanings in everyday communication.