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Sample records for repetitive behavior phenotypes

  1. Repetitive maladaptive behavior: beyond repetition compulsion.

    Science.gov (United States)

    Bowins, Brad

    2010-09-01

    Maladaptive behavior that repeats, typically known as repetition compulsion, is one of the primary reasons that people seek psychotherapy. However, even with psychotherapeutic advances it continues to be extremely difficult to treat. Despite wishes and efforts to the contrary repetition compulsion does not actually achieve mastery, as evidenced by the problem rarely resolving without therapeutic intervention, and the difficulty involved in producing treatment gains. A new framework is proposed, whereby such behavior is divided into behavior of non-traumatic origin and traumatic origin with some overlap occurring. Repetitive maladaptive behavior of non-traumatic origin arises from an evolutionary-based process whereby patterns of behavior frequently displayed by caregivers and compatible with a child's temperament are acquired and repeated. It has a familiarity and ego-syntonic aspect that strongly motivates the person to retain the behavior. Repetitive maladaptive behavior of traumatic origin is characterized by defensive dissociation of the cognitive and emotional components of trauma, making it very difficult for the person to integrate the experience. The strong resistance of repetitive maladaptive behavior to change is based on the influence of both types on personality, and also factors specific to each. Psychotherapy, although very challenging at the best of times, can achieve the mastery wished and strived for, with the aid of several suggestions provided.

  2. The neurobiology of repetitive behavior : of mice…

    NARCIS (Netherlands)

    Langen, Marieke; Kas, Martien J H; Staal, Wouter G; van Engeland, Herman; Durston, Sarah

    2011-01-01

    Repetitive and stereotyped behavior is a prominent element of both animal and human behavior. Similar behavior is seen across species, in diverse neuropsychiatric disorders and in key phases of typical development. This raises the question whether these similar classes of behavior are caused by simi

  3. The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

    Science.gov (United States)

    Moss, Joanna; Oliver, Chris; Arron, Kate; Burbidge, Cheryl; Berg, Katy

    2009-01-01

    We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat…

  4. Evidence-Based Behavioral Interventions for Repetitive Behaviors in Autism

    Science.gov (United States)

    Boyd, Brian A.; McDonough, Stephen G.; Bodfish, James W.

    2012-01-01

    Restricted and repetitive behaviors (RRBs) are a core symptom of autism spectrum disorders (ASD). There has been an increased research emphasis on repetitive behaviors; however, this research primarily has focused on phenomenology and mechanisms. Thus, the knowledge base on interventions is lagging behind other areas of research. The literature…

  5. Neural Correlates of Restricted, Repetitive Behaviors in Autism Spectrum Disorders

    Science.gov (United States)

    2014-12-01

    Restrictive Repetitive Behaviors in Autism Spectrum Disorder . Authors: T.Q.Nguyen, B...Manoach. Functional Connectivity of the Dorsal Anterior Cingulate Cortex Predicts Restrictive Repetitive Behaviors in Autism Spectrum Disorder We...Introduction: Although restricted , repetitive behaviors (RRBs) are a highly disabling core feature of Autism Spectrum Disorders (ASDs), they

  6. Repetitive behavior profile and supersensitivity to amphetamine in the C58/J mouse model of autism.

    Science.gov (United States)

    Moy, Sheryl S; Riddick, Natallia V; Nikolova, Viktoriya D; Teng, Brian L; Agster, Kara L; Nonneman, Randal J; Young, Nancy B; Baker, Lorinda K; Nadler, Jessica J; Bodfish, James W

    2014-02-01

    Restricted repetitive behaviors are core symptoms of autism spectrum disorders (ASDs). The range of symptoms encompassed by the repetitive behavior domain includes lower-order stereotypy and self-injury, and higher-order indices of circumscribed interests and cognitive rigidity. Heterogeneity in clinical ASD profiles suggests that specific manifestations of repetitive behavior reflect differential neuropathology. The present studies utilized a set of phenotyping tasks to determine a repetitive behavior profile for the C58/J mouse strain, a model of ASD core symptoms. In an observational screen, C58/J demonstrated overt motor stereotypy, but not over-grooming, a commonly-used measure for mouse repetitive behavior. Amphetamine did not exacerbate motor stereotypy, but had enhanced stimulant effects on locomotion and rearing in C58/J, compared to C57BL/6J. Both C58/J and Grin1 knockdown mice, another model of ASD-like behavior, had marked deficits in marble-burying. In a nose poke task for higher-order repetitive behavior, C58/J had reduced holeboard exploration and preference for non-social, versus social, olfactory stimuli, but did not demonstrate cognitive rigidity following familiarization to an appetitive stimulus. Analysis of available high-density genotype data indicated specific regions of divergence between C58/J and two highly-sociable strains with common genetic lineage. Strain genome comparisons identified autism candidate genes, including Cntnap2 and Slc6a4, located within regions divergent in C58/J. However, Grin1, Nlgn1, Sapap3, and Slitrk5, genes linked to repetitive over-grooming, were not in regions of divergence. These studies suggest that specific repetitive phenotypes can be used to distinguish ASD mouse models, with implications for divergent underlying mechanisms for different repetitive behavior profiles.

  7. Transgenerational effects of environmental enrichment on repetitive motor behavior development.

    Science.gov (United States)

    Bechard, Allison R; Lewis, Mark H

    2016-07-01

    The favorable consequences of environmental enrichment (EE) on brain and behavior development are well documented. Much less is known, however, about transgenerational benefits of EE on non-enriched offspring. We explored whether transgenerational effects of EE might extend to the development of repetitive motor behaviors in deer mice. Repetitive motor behaviors are invariant patterns of movement that, across species, can be reduced by EE. We found that EE not only attenuated the development of repetitive behavior in dams, but also in their non-enriched offspring. Moreover, maternal behavior did not seem to mediate the transgenerational effect we found, although repetitive behavior was affected by reproductive experience. These data support a beneficial transgenerational effect of EE on repetitive behavior development and suggest a novel benefit of reproductive experience.

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

    OpenAIRE

    Anderson-Hanley C; Tureck K; Schneiderman RL

    2011-01-01

    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. Ex...

  9. Breakdown behavior of electronics at variable pulse repetition rates

    OpenAIRE

    Korte, S.; H. Garbe

    2006-01-01

    The breakdown behavior of electronics exposed to single transient electromagnetic pulses is subject of investigations for several years. State-of-the-art pulse generators additionally provide the possibility to generate pulse sequences with variable pulse repetition rate. In this article the influence of this repetition rate variation on the breakdown behavior of electronic systems is described. For this purpose microcontroller systems are examined during line-led exposure to pulses with repe...

  10. 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

  11. Body-focused repetitive behavior disorders in ICD-11

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    Jon E. Grant

    2014-01-01

    Full Text Available This article addresses the question of how body-focused repetitive behavior disorders (e.g., trichotillomania and skin-picking disorder should be characterized in ICD-11. The article reviews the historical nosology of the two disorders and the current approaches in DSM-5 and ICD-10. Although data are limited and mixed regarding the optimal relationship between body-focused repetitive behavior disorders and nosological categories, these conditions should be included within the obsessive-compulsive and related disorders category, as this is how most clinicians see these behaviors, and as this may optimize clinical utility. The descriptions of these disorders should largely mirror those in DSM-5, given the evidence from recent field surveys. The recommendations regarding ICD-11 and body-focused repetitive behavior disorders should promote the global identification and treatment of these conditions in primary care settings.

  12. The neurobiology of repetitive behavior: …and men

    NARCIS (Netherlands)

    Langen, Marieke; Durston, Sarah; Kas, Martien J H; van Engeland, Herman; Staal, Wouter G

    2011-01-01

    In young, typically developing children, repetitive behavior similar to that in certain neuropsychiatric syndromes is common. Whereas this behavior is adaptive in typical development, in many disorders it forms a core component of symptoms and causes prominent impairment in the daily life of affecte

  13. 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.

  14. Repetitive motor behavior: further characterization of development and temporal dynamics.

    Science.gov (United States)

    Muehlmann, Amber M; Bliznyuk, Nikolay; Duerr, Isaac; Lewis, Mark H

    2015-03-01

    Repetitive behaviors are diagnostic for autism spectrum disorders, common in related neurodevelopmental disorders, and normative in typical development. In order to identify factors that mediate repetitive behavior development, it is necessary to characterize the expression of these behaviors from an early age. Extending previous findings, we characterized further the ontogeny of stereotyped motor behavior both in terms of frequency and temporal organization in deer mice. A three group trajectory model provided a good fit to the frequencies of stereotyped behavior across eight developmental time points. Group based trajectory analysis using a measure of temporal organization of stereotyped behavior also resulted in a three group solution. Additionally, as the frequency of stereotyped behavior increased with age, the temporal distribution of stereotyped responses became increasingly regular or organized indicating a strong association between these measures. Classification tree and principal components analysis showed that accurate classification of trajectory group could be done with fewer observations. This ability to identify trajectory group membership earlier in development allows for examination of a wide range of variables, both experiential and biological, to determine their impact on altering the expected trajectory of repetitive behavior across development. Such studies would have important implications for treatment efforts in neurodevelopmental disorders such as autism.

  15. Intrinsic and Extrinsic Motivation for Stereotypic and Repetitive Behavior

    Science.gov (United States)

    Joosten, Annette V.; Bundy, Anita C.; Einfeld, Stewart L.

    2009-01-01

    This study provides evidence for intrinsic and extrinsic motivators for stereotypical and repetitive behavior in children with autism and intellectual disability and children with intellectual disability alone. We modified the Motivation Assessment Scale (MAS) (1988b); dividing it into intrinsic and extrinsic measures and adding items to assess…

  16. Perseveration and other repetitive verbal behaviors: functional dissociations.

    Science.gov (United States)

    Christman, Sarah S; Boutsen, Frank R; Buckingham, Hugh W

    2004-11-01

    This article will review types of perseveration from a neurolinguistic perspective. During the course of the article, continuous, stuck-in-set, and recurrent perseveration will be placed in contradistinction to several other types of repetitive behaviors commonly associated with neurogenic communication disorders. These include echolalia in mixed transcortical aphasia; conduite d'approche and conduite d'ecart in fluent aphasias; lexical and nonlexical automatisms in nonfluent aphasias; palilalia in neuromotor disorders, such as Parkinson's disease (PD); and sound, syllable, word, and phrase repetitions in neurogenic stuttering. When differentiating these phenomena from perseveration, it is helpful to consider the salient factors that condition observed behaviors in individual patients, such as overall speech fluency, inventory of available utterances, nature of eliciting tasks, and propositionality of responses. Information such as communication disorder diagnosis, underlying etiology, and known sites of lesion from each patient's total clinical profile may also assist with differentiation.

  17. Striatal development in autism: repetitive behaviors and the reward circuitry

    OpenAIRE

    Kohls, Gregor; Yerys, Benjamin; Schultz, Robert T

    2014-01-01

    Autism spectrum disorder (ASD) is defined by two essential features – impaired social communication abilities, including deficits with social reciprocity, nonverbal communication and establishing relationships, and by the presence of restricted and repetitive behaviors and interests (RRBIs). Social deficits get the majority of attention both in science and in the popular media, but RRBIs are equally important in understanding autism. Although RRBIs are also seen in typically...

  18. Characterizing Caregiver Responses to Restricted and Repetitive Behaviors in Toddlers with Autism Spectrum Disorder

    Science.gov (United States)

    Harrop, Clare; Gulsrud, Amanda; Shih, Wendy; Hovsepyan, Lilit; Kasari, Connie

    2016-01-01

    Restricted and repetitive behaviors are a core feature of autism spectrum disorder. This descriptive study documented the presence of restricted and repetitive behaviors in 85 toddlers with autism spectrum disorder as they interacted with their caregiver in a play interaction. For each child restricted and repetitive behavior, a caregiver…

  19. 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.

  20. Extending Injury- and Disease-Resistant CNS Phenotypes by Repetitive Epigenetic Conditioning

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    Jeffrey M. Gidday

    2015-03-01

    Full Text Available Significant reductions in the extent of acute injury in the CNS can be achieved by exposure to different preconditioning stimuli, but the duration of the induced protective phenotype is typically short-lasting, and thus is deemed as limiting its clinical applicability. Extending the period over which such adaptive epigenetic changes persist – in effect, expanding conditioning’s therapeutic window – would significantly broaden the potential applications of such a treatment approach in patients. The frequency of the conditioning stimulus may hold the key. While transient (1-3 days protection against CNS ischemic injury is well established preclinically following a single preconditioning stimulus, repetitively presenting preconditioning stimuli extends the duration of ischemic tolerance by many weeks. Moreover, repetitive intermittent postconditioning enhances postischemic recovery metrics and improves long-term survival. Intermittent conditioning is also efficacious for preventing or delaying injury in preclinical models of chronic neurodegenerative disease, and for promoting long-lasting functional improvements in a number of other pathologies as well. Although the detailed mechanisms underlying these protracted kinds of neuroplasticity remain largely unstudied, accumulating empirical evidence supports the contention that all of these adaptive phenotypes are epigenetically mediated. Going forward, additional preclinical demonstrations of the ability to induce sustained beneficial phenotypes that reduce the burden of acute and chronic neurodegeneration, and experimental interrogations of the regulatory constructs responsible for these epigenetic responses, will accelerate the identification of not only efficacious, but practical, adaptive epigenetics-based treatments for individuals with neurological disease.

  1. Examining Restricted and Repetitive Behaviors in Young Children with Autism Spectrum Disorder during Two Observational Contexts

    Science.gov (United States)

    Stronach, Sheri; Wetherby, Amy M.

    2014-01-01

    This prospective study of the FIRST WORDS® Project examined restricted and repetitive behaviors in a sample of 55 toddlers at a mean age of 20 months who were later diagnosed with autism spectrum disorder. Restricted and repetitive behaviors were coded using the Repetitive Movement and Restricted Interest Scales in two video-recorded observation…

  2. Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder.

    Science.gov (United States)

    Kim, Hyopil; Lim, Chae-Seok; Kaang, Bong-Kiun

    2016-01-20

    Autism spectrum disorder (ASD) refers to a broad spectrum of neurodevelopmental disorders characterized by three central behavioral symptoms: impaired social interaction, impaired social communication, and restricted and repetitive behaviors. However, the symptoms are heterogeneous among patients and a number of ASD mouse models have been generated containing mutations that mimic the mutations found in human patients with ASD. Each mouse model was found to display a unique set of repetitive behaviors. In this review, we summarize the repetitive behaviors of the ASD mouse models and variations found in their neural mechanisms including molecular and electrophysiological features. We also propose potential neuronal mechanisms underlying these repetitive behaviors, focusing on the role of the cortico-basal ganglia-thalamic circuits and brain regions associated with both social and repetitive behaviors. Further understanding of molecular and circuitry mechanisms of the repetitive behaviors associated with ASD is necessary to aid the development of effective treatments for these disorders.

  3. Verbal behavior in Alzheimer disease patients: Analysis of phrase repetition

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    Juliana Francisca Cecato

    Full Text Available Abstract Language problems in the elderly with AD are due to the fact that deterioration occurs not only in semantic memory, but in a group of cognitive factors, evidenced by a deficiency in search strategies for linguistic information. Objectives: To evaluate phrase repetition in two cognitive tests, the MMSE and MoCA, in a group of Alzheimer disease patients (AD and normal controls. Methods: A Cross-sectional study was conducted involving 20 patients who sought medical assistance at a geriatric institute in Jundiaí, São Paulo. The subjects underwent a detailed clinical examination and neuropsychometric evaluation. All subjects with AD met DSM-IV and NINCDS-ADRDA criteria. Ten patients received a diagnosis of AD and 10 were healthy subjects, forming the control group (CG. Results: All participants correctly answered the phrase from the MMSE (phrase 1. The MoCA phrases (phrases 2 and 3 were correct in 80% and 90%, respectively in the CG and in 40% and 50%, respectively in the AD group. Conclusions: The MoCA test proved more effective in evaluating the echoic behavior in AD patients compared to the MMSE. The simpler phrase repetition task in the MMSE was found to be less sensitive in detecting mild language decline in AD patients.

  4. Intrinsic and extrinsic motivation for stereotypic and repetitive behavior.

    Science.gov (United States)

    Joosten, Annette V; Bundy, Anita C; Einfeld, Stewart L

    2009-03-01

    This study provides evidence for intrinsic and extrinsic motivators for stereotypical and repetitive behavior in children with autism and intellectual disability and children with intellectual disability alone. We modified the Motivation Assessment Scale (MAS) (1988b); dividing it into intrinsic and extrinsic measures and adding items to assess anxiety as an intrinsic motivator. Rasch analysis of data from 279 MASs (74 children) revealed that the items formed two unidimensional scales. Anxiety was a more likely intrinsic motivator than sensory seeking for children with dual diagnoses; the reverse was true for children with intellectual disability only. Escape and gaining a tangible object were the most common extrinsic motivators for those with dual diagnoses and attention and escape for children with intellectual disability.

  5. mGluR5-antagonist mediated reversal of elevated stereotyped, repetitive behaviors in the VPA model of autism.

    Directory of Open Access Journals (Sweden)

    Mili V Mehta

    Full Text Available Autism spectrum disorders (ASD are highly disabling developmental disorders with a population prevalence of 1-3%. Despite a strong genetic etiology, there are no current therapeutic options that target the core symptoms of ASD. Emerging evidence suggests that dysfunction of glutamatergic signaling, in particular through metabotropic glutamate receptor 5 (mGluR5 receptors, may contribute to phenotypic deficits and may be appropriate targets for pharmacologic intervention. This study assessed the therapeutic potential of 2-methyl-6-phenylethyl-pyrididine (MPEP, an mGluR5-receptor antagonist, on repetitive and anxiety-like behaviors in the valproic acid (VPA mouse model of autism. Mice were exposed prenatally on day E13 to VPA and assessed for repetitive self-grooming and marble burying behaviors as adults. Anxiety-like behavior and locomotor activity were measured in an open-field. VPA-exposed mice displayed increased repetitive and anxiety-like behaviors, consistent with previously published results. Across both marble burying and self-grooming assays, MPEP significantly reduced repetitive behaviors in VPA-treated mice, but had no effect on locomotor activity. These results are consistent with emerging preclinical literature that mGluR5-antagonists may have therapeutic efficacy for core symptoms of autism.

  6. Subcategories of Restricted and Repetitive Behaviors in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Bishop, Somer L.; Hus, Vanessa; Duncan, Amie; Huerta, Marisela; Gotham, Katherine; Pickles, Andrew; Kreiger, Abba; Buja, Andreas; Lund, Sabata; Lord, Catherine

    2013-01-01

    Research suggests that restricted and repetitive behaviors (RRBs) can be subdivided into Repetitive Sensory Motor (RSM) and Insistence on Sameness (IS) behaviors. However, because the majority of previous studies have used the Autism Diagnostic Interview-Revised (ADI-R), it is not clear whether these subcategories reflect the actual organization…

  7. Measuring Repetitive Behaviors as a Treatment Endpoint in Youth with Autism Spectrum Disorder

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    Scahill, Lawrence; Aman, Michael G.; Lecavalier, Luc; Halladay, Alycia K.; Bishop, Somer L.; Bodfish, James W.; Grondhuis, Sabrina; Jones, Nancy; Horrigan, Joseph P.; Cook, Edwin H.; Handen, Benjamin L.; King, Bryan H.; Pearson, Deborah A.; McCracken, James T.; Sullivan, Katherine Anne; Dawson, Geraldine

    2015-01-01

    Restricted interests and repetitive behaviors vary widely in type, frequency, and intensity among children and adolescents with autism spectrum disorder. They can be stigmatizing and interfere with more constructive activities. Accordingly, restricted interests and repetitive behaviors may be a target of intervention. Several standardized…

  8. The Repetitive Behavior Scale-Revised: Independent Validation in Individuals with Autism Spectrum Disorders

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    Lam, Kristen S. L.; Aman, Michael G.

    2007-01-01

    A key feature of autism is restricted repetitive behavior (RRB). Despite the significance of RRBs, little is known about their phenomenology, assessment, and treatment. The Repetitive Behavior Scale-Revised (RBS-R) is a recently-developed questionnaire that captures the breadth of RRB in autism. To validate the RBS-R in an independent sample, we…

  9. Environmental conditions associated with repetitive behavior in a group of African elephants.

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    Hasenjager, Matthew J; Bergl, Richard A

    2015-01-01

    Repetitive movement patterns are commonly observed in zoo elephants. The extent to which these behaviors constitute a welfare concern varies, as their expression ranges from stereotypies to potentially beneficial anticipatory behaviors. Nevertheless, their occurrence in zoo animals is often viewed negatively. To better identify conditions that prompt their performance, observations were conducted on six African elephants (Loxodonta africana) at the North Carolina Zoo. Individuals spent most of their time engaged in feeding, locomotion, resting, and repetitive behavior. Both generalized estimating equation and zero-inflated negative binomial models were used to identify factors associated with increased rates of repetitive behavior. Time of day in conjunction with location on- or off-exhibit best explained patterns of repetitive behavior. Repetitive behaviors occurred at a lower rate in the morning when on-exhibit, as compared to afternoons on-exhibit or at any time of day off-exhibit. Increased repetitive behavior rates observed on-exhibit in the afternoon prior to the evening transfer and feeding were possibly anticipatory responses towards those events. In contrast, consistently elevated frequencies of repetitive behavior off-exhibit at all times of day could be related to differences in exhibit complexity between off-exhibit and on-exhibit areas, as well as a lack of additional foraging opportunities. Our study contributes valuable information on captive elephant behavior and represents a good example of how behavioral research can be employed to improve management of zoo animals.

  10. The behavioral phenotype of the Angelman syndrome.

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    Williams, Charles A

    2010-11-15

    The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other ones involving severe developmental handicap. In this review the core neurological features of the syndrome are discussed with a focus on those behaviors that make Angelman syndrome a prototypical genetic disorder expressing a behavioral phenotype. © 2010 Wiley-Liss, Inc.

  11. Challenging behavior: Behavioral phenotypes of some genetic syndromes

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    Buha Nataša

    2014-01-01

    Full Text Available Challenging behavior in individuals with mental retardation (MR is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in

  12. Peripheral and central changes combine to induce motor behavioral deficits in a moderate repetition task

    OpenAIRE

    Coq, Jacques-Olivier; Barr, Ann E.; Strata, Fabrizio; Russier, Michael; Kietrys, David M; Merzenich, Michael M.; Byl, Nancy N; Barbe, Mary F

    2009-01-01

    Repetitive motion disorders, such as carpal tunnel syndrome and focal hand dystonia, can be associated with tasks that require prolonged, repetitive behaviors. Previous studies using animal models of repetitive motion have correlated cortical neuroplastic changes or peripheral tissue inflammation with fine motor performance. However, the possibility that both peripheral and central mechanisms coexist with altered motor performance has not been studied. In this study, we investigated the relat...

  13. Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP.

    Science.gov (United States)

    Silverman, Jill L; Tolu, Seda S; Barkan, Charlotte L; Crawley, Jacqueline N

    2010-03-01

    Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social interactions, communication deficits, and repetitive behaviors with restricted interests. BTBR T+tf/J (BTBR) is an inbred mouse strain that shows robust behavioral phenotypes with analogies to all three of the diagnostic symptoms of autism, including well-replicated deficits in reciprocal social interactions and social approach, unusual patterns of ultrasonic vocalization, and high levels of repetitive self-grooming. These phenotypes offer straightforward behavioral assays for translational investigations of pharmacological compounds. Two suggested treatments for autism were evaluated in the BTBR mouse model. Methyl-6-phenylethynyl-pyridine (MPEP), an antagonist of the mGluR5 metabotropic glutamate receptor, blocks aberrant phenotypes in the Fmr1 mouse model of Fragile X, a comorbid neurodevelopmental disorder with autistic features. Risperidone has been approved by the United States Food and Drug Administration for the treatment of irritability, tantrums, and self-injurious behavior in autistic individuals. We evaluated the actions of MPEP and risperidone on two BTBR phenotypes, low sociability and high repetitive self-grooming. Open field activity served as an independent control for non-social exploratory activity and motor functions. C57BL/6J (B6), an inbred strain with high sociability and low self-grooming, served as the strain control. MPEP significantly reduced repetitive self-grooming in BTBR, at doses that had no sedating effects on open field activity. Risperidone reduced repetitive self-grooming in BTBR, but only at doses that induced sedation in both strains. No overall improvements in sociability were detected in BTBR after treatment with either MPEP or risperidone. Our findings suggest that antagonists of mGluR5 receptors may have selective therapeutic efficacy in treating repetitive behaviors in autism.

  14. Relationship between postural control and restricted, repetitive behaviors in autism spectrum disorders

    OpenAIRE

    Krestin eRadonovich; Fournier, Kimberly A.; Christopher J. Hass

    2013-01-01

    Restricted, repetitive behaviors (RRBs) are one of the core diagnostic criteria of autism spectrum disorders (ASD), and include simple repetitive motor behaviors and more complex cognitive behaviors, such as compulsions and restricted interests. In addition to the core symptoms, impaired movement is often observed in ASD. Research suggests that the postural system in individuals with ASD is immature and may never reach adult levels. RRBs have been related to postural sway in individuals with...

  15. The Association between Repetitive, Self-Injurious and Aggressive Behavior in Children with Severe Intellectual Disability

    Science.gov (United States)

    Oliver, Chris; Petty, Jane; Ruddick, Loraine; Bacarese-Hamilton, Monique

    2012-01-01

    We evaluated the independent association between adaptive behavior, communication and repetitive or ritualistic behaviors and self-injury, aggression and destructive behavior to identify potential early risk markers for challenging behaviors. Data were collected for 943 children (4-18 years, M = 10.88) with severe intellectual disabilities. Odds…

  16. Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder

    OpenAIRE

    Kim, Hyopil; Lim, Chae-Seok; Kaang, Bong-Kiun

    2016-01-01

    Autism spectrum disorder (ASD) refers to a broad spectrum of neurodevelopmental disorders characterized by three central behavioral symptoms: impaired social interaction, impaired social communication, and restricted and repetitive behaviors. However, the symptoms are heterogeneous among patients and a number of ASD mouse models have been generated containing mutations that mimic the mutations found in human patients with ASD. Each mouse model was found to display a unique set of repetitive b...

  17. Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.

    Science.gov (United States)

    Parisi, Lucia; Di Filippo, Teresa; Roccella, Michele

    2015-09-30

    Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

  18. Reversal learning in C58 mice: Modeling higher order repetitive behavior.

    Science.gov (United States)

    Whitehouse, Cristina M; Curry-Pochy, Lisa S; Shafer, Robin; Rudy, Joseph; Lewis, Mark H

    2017-08-14

    Restricted, repetitive behaviors are diagnostic for autism and prevalent in other neurodevelopmental disorders. These behaviors cluster as repetitive sensory-motor behaviors and behaviors reflecting resistance to change. The C58 mouse strain is a promising model for these behaviors as it emits high rates of aberrant repetitive sensory-motor behaviors. The purpose of the present study was to extend characterization of the C58 model to resistance to change. This was done by comparing C58 to C57BL/6 mice on a reversal learning task under either a 100% or 80%/20% probabilistic reinforcement schedule. In addition, the effect of environmental enrichment on performance of this task was assessed as this rearing condition markedly reduces repetitive sensory-motor behavior in C58 mice. Little difference was observed between C58 and control mice under a 100% schedule of reinforcement. The 80%/20% probabilistic schedule of reinforcement generated substantial strain differences, however. Importantly, no strain difference was observed in acquisition, but C58 mice were markedly impaired in their ability to reverse their pattern of responding from the previously high density reinforcement side. Environmental enrichment did not impact acquisition under the probabilistic reinforcement schedule, but enriched C58 mice performed significantly better than standard housed C58 mice in reversal learning. Thus, C58 mice exhibit behaviors that reflect both repetitive sensory motor behaviors as well as behavior that reflects resistance to change. Moreover, both clusters of repetitive behavior were attenuated by environmental enrichment. Such findings, along with the reported social deficits in C58 mice, increase the translational value of this mouse model to autism. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Oxotremorine treatment reduces repetitive behaviors in BTBR T+ tf/J mice

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    Dionisio A. Amodeo

    2014-08-01

    Full Text Available Repetitive behaviors with restricted interests is one of the core criteria for the diagnosis of autism spectrum disorder (ASD. Current pharmacotherapies that target the dopaminergic or serotonergic systems have limited effectiveness in treating repetitive behaviors. Previous research has demonstrated that administration of muscarinic cholinergic receptor (mAChR antagonists can exacerbate motor stereotypies while mAChR agonists reduce stereotypies. The present study determined whether the mAChR agonist, oxotremorine affected repetitive behaviors in the BTBR T+ tf/J (BTBR mouse model of autism. To test the effects of oxotremorine on repetitive behaviors, marble burying and grooming behavior were measured in BTBR mice and compared to that in C57BL/6J (B6 mice. The effects of oxotremorine on locomotor activity was also measured. Thirty minutes before each test, mice received an intraperitoneal injection of saline, 0.001 mg or 0.01 mg of oxotremorine methiodide. Saline- treated BTBR mice exhibited increased marble burying and self-grooming behavior compared to that of saline-treated B6 mice. Oxotremorine significantly reduced marble burying and self-grooming behavior in BTBR mice, but had no significant effect in B6 mice. In addition, oxotremorine did not affect locomotor activity in BTBR mice, but significantly reduced locomotor activity in B6 mice at the 0.01 mg dose. These findings demonstrate that activation of mAChRs reduces repetitive behavior in the BTBR mouse and suggest that treatment with a mAChR agonist may be effective in reducing repetitive behaviors in ASD.

  20. Repetitive Behaviors in Autism and Obsessive-Compulsive Disorder: New Perspectives from a Network Analysis

    Science.gov (United States)

    Ruzzano, Laura; Borsboom, Denny; Geurts, Hilde M.

    2015-01-01

    The association between autism and obsessive-compulsive disorder (OCD) seems largely dependent upon observed similarities in the repetitive behaviors that manifest in both disorders. The aim of this study was to use a network approach to explore the interactions between these behaviors. We constructed a network based on clinician's…

  1. P300 Source Localization Contrasts in Body-Focused Repetitive Behaviors and Tic Disorders

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    Geneviève Sauvé

    2017-07-01

    Full Text Available Tic disorders (TD and body-focused repetitive behaviors (BFRB have similar phenotypes that can be challenging to distinguish in clinical settings. Both disorders show high rates of comorbid psychiatric conditions, dysfunctional basal ganglia activity, atypical cortical functioning in the prefrontal and motor cortical regions, and cognitive deficits. Clinicians frequently confound the two disorders and it is important to find reliable objective methods to discriminate TD and BFRB. Neuropsychological tests and event-related potential (ERP studies have yielded inconsistent results regarding a possible context updating deficit in TD and BFRB patients. However, most previous studies did not control for the presence of comorbid psychiatric condition and medication status, which might have confounded the findings reported to date. Hence, we aimed to investigate the psychophysiology of working memory using ERP in carefully screened TD and BFRB patients excluding those with psychiatric comorbidity and those taking psychoactive medication. The current study compared 12 TD patients, 12 BRFB patients, and 15 healthy control participants using a motor oddball task (button press. The P300 component was analyzed as an index of working memory functioning. Results showed that BFRB patients had decreased P300 oddball effect amplitudes over the right hemisphere compared to the TD and control groups. Clinical groups presented different scalp distributions compared to controls, which could represent a potential endophenotype candidate of BFRB and TD.

  2. Relationship Between Subtypes of Restricted and Repetitive Behaviors and Sleep Disturbance in Autism Spectrum Disorder.

    Science.gov (United States)

    Hundley, Rachel J; Shui, Amy; Malow, Beth A

    2016-11-01

    We examined the association of two types of restricted and repetitive behaviors, repetitive sensory motor (RSM) and insistence on sameness (IS), with sleep problems in children with autism spectrum disorder (ASD). Participants included 532 children (aged 2-17) who participated in the Autism Speaks Autism Treatment Network research registry. Confirmatory factor analysis of the Autism Diagnostic Interview-Revised detected the presence of RSM and IS. RSM behaviors were positively associated with parent-reported sleep problems, and this relationship remained significant after controlling for anxiety symptoms. IS was not significantly associated with sleep problems. Better understanding of the relationship between specific types of repetitive behaviors and sleep problems may allow providers to tailor interventions to the individual presentations of their patients with ASD.

  3. Health behavior change among office workers: an exploratory study to prevent repetitive strain injuries.

    Science.gov (United States)

    Nieuwenhuijsen, Els R

    2004-01-01

    The purpose of this evidence-based study is to investigate the impact of a multi-component intervention on health behavior change among office/computer workers in preventing repetitive strain injuries. Forty office workers employed in an administrative office in Michigan participated in this project. The subjects completed a comprehensive questionnaire at three different times in 1994 and 1995. The intervention took place between time 2 and time 3 and included posters, e-mail tips, mini-workshops, and activities of a Wellness Ergonomic Team. A theoretical model was tested to identify factors influencing healthy behaviors. Study findings revealed positive behavior change for 62% of the participants. The factors most strongly related to health behavior change appear to be self-efficacy, the intention to change one's behavior, and perceived health status. Better understanding of health behavior change coupled with ergonomic modifications is a significant step toward the prevention of repetitive strain injuries resulting from computer use.

  4. Cognitive Set Shifting Deficits and Their Relationship to Repetitive Behaviors in Autism Spectrum Disorder

    Science.gov (United States)

    Miller, Haylie L.; Ragozzino, Michael E.; Cook, Edwin H.; Sweeney, John A.; Mosconi, Matthew W.

    2015-01-01

    The neurocognitive impairments associated with restricted and repetitive behaviors (RRBs) in autism spectrum disorder (ASD) are not yet clear. Prior studies indicate that individuals with ASD show reduced cognitive flexibility, which could reflect difficulty shifting from a previously learned response pattern or a failure to maintain a new…

  5. Restricted and Repetitive Behaviors in Autism Spectrum Disorders: A Review of Research in the Last Decade

    Science.gov (United States)

    Leekam, Susan R.; Prior, Margot R.; Uljarevic, Mirko

    2011-01-01

    Restricted and repetitive behaviors (RRBs) are a core feature of autism spectrum disorders. They constitute a major barrier to learning and social adaptation, but research on their definition, cause, and capacity for change has been relatively neglected. The last decade of research has brought new measurement techniques that have improved the…

  6. Restricted and Repetitive Behaviors in Young Children with Autism Spectrum Disorders

    Science.gov (United States)

    Richler, Jennifer; Bishop, Somer L.; Kleinke, Jennifer R.; Lord, Catherine

    2007-01-01

    Restricted and repetitive behaviors (RRBs) on the Autism Diagnostic Interview- Revised (ADI-R: Lord, Rutter, & Le Couteur (1994) were examined in 165 children with Autism Spectrum Disorders (ASD), 49 children with non-spectrum developmental disorders (DD), and 65 children with typical development (TD) at approximately 2 years of age. A factor…

  7. Age-Related Differences in Restricted Repetitive Behaviors in Autism Spectrum Disorders

    Science.gov (United States)

    Esbensen, Anna J.; Seltzer, Marsha Mailick; Lam, Kristen S. L.; Bodfish, James W.

    2009-01-01

    Restricted repetitive behaviors (RRBs) were examined in a large group of children, adolescents and adults with ASD in order to describe age-related patterns of symptom change and association with specific contextual factors, and to examine if the patterns of change are different for the various types of RRBs. Over 700 individuals with ASD were…

  8. Restricted and Repetitive Behaviors and Psychiatric Symptoms in Youth with Autism Spectrum Disorders

    Science.gov (United States)

    Stratis, Elizabeth A.; Lecavalier, Luc

    2013-01-01

    Children with autism spectrum disorders (ASD) are at high risk for co-occurring psychiatric disorders. Previous research has suggested that restricted and repetitive behaviors (RRB) are associated with symptoms of co-occurring psychiatric disorders in individuals with ASD, but this relationship is not well understood. The current study…

  9. Restricted and Repetitive Behaviors as Predictors of Outcome in Autism Spectrum Disorders

    Science.gov (United States)

    Troyb, Eva; Knoch, Kelley; Herlihy, Lauren; Stevens, Michael C.; Chen, Chi-Ming; Barton, Marianne; Treadwell, Kimberli; Fein, Deborah

    2016-01-01

    Questions have been raised about the significance of restricted and repetitive behaviors (RRBs) in predicting outcomes of children with Autism Spectrum Disorders (ASDs). Previous studies have yielded mixed findings, but some suggest that the presence of RRBs during preschool years is a negative prognostic indicator for later childhood. This study…

  10. Restricted and Repetitive Behaviors in Individuals with a History of ASDs Who Have Achieved Optimal Outcomes

    Science.gov (United States)

    Troyb, Eva; Orinstein, Alyssa; Tyson, Katherine; Eigsti, Inge-Marie; Naigles, Letitia; Fein, Deborah

    2014-01-01

    Studies of autism spectrum disorders (ASDs) suggest that restricted and repetitive behaviors (RRBs) are particularly difficult to remediate. We examined present and past RRBs in 34 individuals who achieved optimal outcomes (OOs; lost their ASD diagnosis), 45 high-functioning individuals with ASD (HFA) and 34 typically developing (TD) peers. The OO…

  11. Autism, DRD3 and repetitive and stereotyped behavior, an overview of the current knowledge

    NARCIS (Netherlands)

    Staal, W.G.

    2015-01-01

    The SNP rs167771 of the dopamine-3-receptor gene (DRD3) has been associated with autism spectrum disorder (ASD) in samples from the United Kingdom, The Netherlands and Spain. The DRD3 polymorphisms of rs167771 are significantly associated with a specific type of repetitive and stereotyped behavior,

  12. Association between restricted and repetitive behaviors and nonverbal IQ in children with autism spectrum disorders.

    Science.gov (United States)

    Bishop, Somer L; Richler, Jennifer; Lord, Catherine

    2006-08-01

    The present study explored the relationship between nonverbal IQ and restricted and repetitive behaviors (RRBs) in 830 children with Autism Spectrum Disorders. The role of chronological age as a moderator of this relationship was also investigated. For many behaviors, there was a significant interaction between nonverbal IQ and chronological age, such that nonverbal IQ (NVIQ) was more strongly related to the prevalence of RRBs in older children. For the majority of such behaviors (e.g. repetitive use of objects, hand and finger mannerisms), RRB prevalence was negatively associated with NVIQ. However, the prevalence of certain behaviors (e.g. circumscribed interests) showed positive relationships with NVIQ, which provides some support for the idea of different classes of RRBs. For the severity of different RRBs, there were several significant effects for age and NVIQ, but few interactions.

  13. Towards a Behavioral Phenotype for Rett Syndrome.

    Science.gov (United States)

    Mount, Rebecca H.; Hastings, Richard P.; Reilly, Sheena; Cass, Hilary; Charman, Tony

    2003-01-01

    A study compared 143 girls (ages 6-14) with Rett syndrome with 85 girls with severe mental retardation on the Developmental Behavior Checklist. Girls with Rett syndrome presented more "autistic relating" and fewer antisocial behaviors. When compared to children with autism, they did not present with classic autistic behavioral features. (Contains…

  14. Antagonistic control of social versus repetitive self-grooming behaviors by separable amygdala neuronal subsets.

    Science.gov (United States)

    Hong, Weizhe; Kim, Dong-Wook; Anderson, David J

    2014-09-11

    Animals display a range of innate social behaviors that play essential roles in survival and reproduction. While the medial amygdala (MeA) has been implicated in prototypic social behaviors such as aggression, the circuit-level mechanisms controlling such behaviors are not well understood. Using cell-type-specific functional manipulations, we find that distinct neuronal populations in the MeA control different social and asocial behaviors. A GABAergic subpopulation promotes aggression and two other social behaviors, while neighboring glutamatergic neurons promote repetitive self-grooming, an asocial behavior. Moreover, this glutamatergic subpopulation inhibits social interactions independently of its effect to promote self-grooming, while the GABAergic subpopulation inhibits self-grooming, even in a nonsocial context. These data suggest that social versus repetitive asocial behaviors are controlled in an antagonistic manner by inhibitory versus excitatory amygdala subpopulations, respectively. These findings provide a framework for understanding circuit-level mechanisms underlying opponency between innate behaviors, with implications for their perturbation in psychiatric disorders.

  15. Behavioral Genetic Toolkits: Toward the Evolutionary Origins of Complex Phenotypes.

    Science.gov (United States)

    Rittschof, C C; Robinson, G E

    2016-01-01

    The discovery of toolkit genes, which are highly conserved genes that consistently regulate the development of similar morphological phenotypes across diverse species, is one of the most well-known observations in the field of evolutionary developmental biology. Surprisingly, this phenomenon is also relevant for a wide array of behavioral phenotypes, despite the fact that these phenotypes are highly complex and regulated by many genes operating in diverse tissues. In this chapter, we review the use of the toolkit concept in the context of behavior, noting the challenges of comparing behaviors and genes across diverse species, but emphasizing the successes in identifying genetic toolkits for behavior; these successes are largely attributable to the creative research approaches fueled by advances in behavioral genomics. We have two general goals: (1) to acknowledge the groundbreaking progress in this field, which offers new approaches to the difficult but exciting challenge of understanding the evolutionary genetic basis of behaviors, some of the most complex phenotypes known, and (2) to provide a theoretical framework that encompasses the scope of behavioral genetic toolkit studies in order to clearly articulate the research questions relevant to the toolkit concept. We emphasize areas for growth and highlight the emerging approaches that are being used to drive the field forward. Behavioral genetic toolkit research has elevated the use of integrative and comparative approaches in the study of behavior, with potentially broad implications for evolutionary biologists and behavioral ecologists alike.

  16. Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe

    Energy Technology Data Exchange (ETDEWEB)

    Kenworthy, L.; Charnas, L. [National Institute of Health, Bethesda, MD (United States)

    1995-11-20

    The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Although there is a wide range of intellectual function in affected individuals, it is often compromised by a high prevalence of maladaptive behaviors, including tantrums, stubbornness, and stereotypy. Whether these behaviors simply reflect the multiple disabilities found in some developmentally impaired individuals with or without OCRL, or a specific genetically-determined behavioral phenotype of OCRL, is unknown. Controls were matched for sex, age, visual impairment, and adaptive functioning and compared with OCRL patients on three standardized measures of adaptive/maladaptive behaviors. Forty-three matched pairs of OCRL and control subjects were identified. Both groups were similar in communication, daily living, socialization, and motor skills, in socioeconomic status, and in measures of parental stress. Individuals with OCRL displayed significantly more severe maladaptive behaviors than control boys, as measured by the Vineland Adaptive Behavior Scales (VABS), with 41% of the difference between the two groups attributable to the diagnosis of OCRL. Twelve maladaptive behaviors measured on the VABS appeared more frequently in OCRL than in controls. Five of these 12 behaviors, i.e., temper tantrums, irritability, complex repetitive behaviors (stereotypy)/mannerisms, obsessions/unusual preoccupations, and negativism, were identified by discriminant function analysis to significantly distinguish between controls and OCRL individuals. The diagnosis of OCRL is associated with a behavioral phenotype consisting of temper tantrums, stereotypy, stubbornness, and obsessions/unusual preoccupations. This phenotype cannot be attributed solely to the visual, motor, and intellectual disabilities characteristic of OCRL, and may represent a specific effect of the OCRL gene on the central nervous system. 57 refs., 5 tabs.

  17. Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

    Science.gov (United States)

    Moss, Joanna; Penhallow, Jessica; Ansari, Morad; Barton, Stephanie; Bourn, David; FitzPatrick, David R; Goodship, Judith; Hammond, Peter; Roberts, Catherine; Welham, Alice; Oliver, Chris

    2017-06-01

    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. There is substantial heterogeneity in all aspects of CdLS but very little is known about what predicts phenotypic heterogeneity. In this study, we evaluated genotype-phenotype associations in 34 individuals with CdLS. Participants with NIPBL mutations had significantly lower self help skills and were less likely to have verbal skills relative to those who were negative for the NIPBL mutation. No significant differences were identified between the groups in relation to repetitive behavior, mood, interest and pleasure, challenging behavior, activity, impulsivity, and characteristics of autism spectrum disorder whilst controlling differences in self help skills. Significant correlations indicating lower mood, interest and pleasure, and increased insistence on sameness with older age were identified for those who were NIPBL mutation positive. The findings suggest similarities in the behavioral phenotype between those with and without the NIPBL mutation once differences in self help skills are controlled for. However, there may be subtle differences in the developmental trajectory of these behaviors according to genetic mutation status in CdLS. © 2017 Wiley Periodicals, Inc.

  18. Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

    Directory of Open Access Journals (Sweden)

    Lucia Parisi

    2015-09-01

    Full Text Available Cornelia de Lange syndrome (CdLS is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A, are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

  19. Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.

    Science.gov (United States)

    Flores, Cindi G; Valcante, Gregory; Guter, Steve; Zaytoun, Annette; Wray, Emily; Bell, Lindsay; Jacob, Suma; Lewis, Mark H; Driscoll, Daniel J; Cook, Edwin H; Kim, Soo-Jeong

    2011-12-01

    Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score ≥15, and PWS subgroup with a SCQ score samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score ≥15 compared with the PWS subgroup with a SCQ score sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score ≥15.

  20. Relationship Between Postural Control and Restricted, Repetitive Behaviors in Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Krestin eRadonovich

    2013-05-01

    Full Text Available Restricted, repetitive behaviors (RRBs are one of the core diagnostic criteria of autism spectrum disorders (ASD, and include simple repetitive motor behaviors and more complex cognitive behaviors, such as compulsions and restricted interests. In addition to the core symptoms, impaired movement is often observed in ASD. Research suggests that the postural system in individuals with ASD is immature and may never reach adult levels. RRBs have been related to postural sway in individuals with mental retardation.Our goals were to determine whether subjects with ASD had greater postural sway and whether RBS-R scores were related to the magnitude of postural sway. We compared the center of pressure (COP sway area during quiet stance with scores on the Repetitive Behavior Scale-Revised (RBS-R in children with ASD and typically developing controls (TD ages 3-16. All subjects had Nonverbal IQ>70. Subjects performed four quiet stance trials at a self–selected stance width for 15 seconds. Subjects with ASD had greater postural sway area compared to controls. Not surprisingly, subjects with ASD exhibited greater frequencies and intensities of RRBs overall and on all 6 subscales. Further, there was a positive correlation between postural sway area and presence of RRBs. Interestingly, results of the postural sway area for the ASD group suggests that roughly half of the ASD subjects scored comparable to TD controls, whereas the other half scored >2 SD worse. Motor impaired children did not have significantly worse IQ scores, but were younger and had more RRBs.Results support previous findings of relationships between RRBs and postural control. It appears that motor control impairments may characterize a subset of individuals with ASD. Better delineation of motor control abilities in individuals with ASD will be important to help explain variations of abilities in ASD, inform treatment, and guide examination of underlying neural involvement in this diverse

  1. Relationship between postural control and restricted, repetitive behaviors in autism spectrum disorders.

    Science.gov (United States)

    Radonovich, K J; Fournier, K A; Hass, C J

    2013-01-01

    Restricted, repetitive behaviors (RRBs) are one of the core diagnostic criteria of autism spectrum disorders (ASD), and include simple repetitive motor behaviors and more complex cognitive behaviors, such as compulsions and restricted interests. In addition to the core symptoms, impaired movement is often observed in ASD. Research suggests that the postural system in individuals with ASD is immature and may never reach adult levels. RRBs have been related to postural sway in individuals with mental retardation. Our goals were to determine whether subjects with ASD had greater postural sway and whether RBS-R scores were related to the magnitude of postural sway. We compared the center of pressure (COP) sway area during quiet stance with scores on the Repetitive Behavior Scale-Revised (RBS-R) in children with ASD and typically developing (TD) controls ages 3-16. All subjects had Non-verbal IQ > 70. Subjects performed four quiet stance trials at a self-selected stance width for 20 s. Subjects with ASD had greater postural sway area compared to controls. Not surprisingly, subjects with ASD exhibited greater frequencies and intensities of RRBs overall and on all six subscales. Further, there was a positive correlation between postural sway area and presence of RRBs. Interestingly, results of the postural sway area for the ASD group suggests that roughly half of the ASD subjects scored comparable to TD controls, whereas the other half scored >2 SD worse. Motor impaired children did not have significantly worse IQ scores, but were younger and had more RRBs. Results support previous findings of relationships between RRBs and postural control. It appears that motor control impairments may characterize a subset of individuals with ASD. Better delineation of motor control abilities in individuals with ASD will be important to help explain variations of abilities in ASD, inform treatment, and guide examination of underlying neural involvement in this very diverse disorder.

  2. Modified Exposure and Response Prevention to Treat the Repetitive Behaviors of a Child with Autism: A Case Report

    Directory of Open Access Journals (Sweden)

    Brian A. Boyd

    2011-01-01

    Full Text Available We report the case study of a school-aged child with autism whose repetitive behaviors were treated with a modified version of a technique routinely used in cognitive behavior therapy (i.e., exposure response prevention to treat obsessive-compulsive disorder. A trained behavioral therapist administered the modified ERP treatment over the course of an intensive two-week treatment period with two therapy sessions occurring daily. The treatment was successful at decreasing the amount of child distress and cooccurring problem behavior displayed; however, the child's interest in the repetitive behavior eliciting stimulus (i.e., puzzles remained. The case study demonstrates specific ways that exposure response prevention strategies can be adapted to the unique kinds of repetitive behaviors that present clinically in autism. A larger clinical trial is needed to substantiate these findings.

  3. A survey of abnormal repetitive behaviors in North American river otters housed in zoos.

    Science.gov (United States)

    Morabito, Paige; Bashaw, Meredith J

    2012-01-01

    Stereotypic behaviors, indicating poor welfare and studied in a variety of species (especially carnivores), appear related to characteristics of current and past environments. Although North American river otters (Lontra canadensis) often develop abnormal, repetitive, possibly stereotypic behaviors, no published reports describe otter housing and management or characterize how these variables relate to abnormal repetitive behavior (ARB) occurrence. The first author developed surveys to gather data on housing, individual history, management, and the prevalence of ARBs in otters housed in facilities accredited by the Association of Zoos and Aquariums. Consistent with anecdotal evidence that otters are prone to ARBs, 46% of river otters in the study exhibit them. ARBs were mostly locomotor and often preceded feeding. Exhibits where otters were fed and trained housed a greater percentage of nonhuman animals with ARBs. This study supports the Tarou, Bloomsmith, and Maple (2005) report that more hands-on management is associated with higher levels of ARBs because management efforts are only for animals with ARBs. Escape motivation, breeding season, feeding cues, and ability to forage may affect ARBs in river otters and should be investigated.

  4. Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism.

    Science.gov (United States)

    Ellegood, Jacob; Crawley, Jacqueline N

    2015-07-01

    In order to understand the consequences of the mutation on behavioral and biological phenotypes relevant to autism, mutations in many of the risk genes for autism spectrum disorder have been experimentally generated in mice. Here, we summarize behavioral outcomes and neuroanatomical abnormalities, with a focus on high-resolution magnetic resonance imaging of postmortem mouse brains. Results are described from multiple mouse models of autism spectrum disorder and comorbid syndromes, including the 15q11-13, 16p11.2, 22q11.2, Cntnap2, Engrailed2, Fragile X, Integrinβ3, MET, Neurexin1a, Neuroligin3, Reelin, Rett, Shank3, Slc6a4, tuberous sclerosis, and Williams syndrome models, and inbred strains with strong autism-relevant behavioral phenotypes, including BTBR and BALB. Concomitant behavioral and neuroanatomical abnormalities can strengthen the interpretation of results from a mouse model, and may elevate the usefulness of the model system for therapeutic discovery.

  5. Behavioral Phenotype in the 9q Subtelomeric Deletion Syndrome

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Kleefstra, T.; Egger, J.I.M.

    2010-01-01

    The 9q Subtelomeric Deletion Syndrome (9qSTDS) is clinically characterized by mental retardation, childhood hypotonia, and facial dysmorphisms. Haploinsufficiency of the EHMT1 gene has been demonstrated to be responsible for its core phenotype. In a significant number of patients behavioral abnormal

  6. D1 and D2 dopamine receptor antagonists decrease behavioral bout duration, without altering the bout's repeated behavioral components, in a naturalistic model of repetitive and compulsive behavior.

    Science.gov (United States)

    Hoffman, Kurt L; Rueda Morales, Rafael I

    2012-04-21

    Nest building behavior in the pregnant female rabbit (Oryctolagus cuniculus) is a model for compulsive behavior in Obsessive Compulsive Disorder (OCD). This behavior comprises a cycle of repeated, stereotyped components (collecting straw, entering nest box and depositing the straw there, returning to collect more straw), which itself is repeated 80+ times in a single bout that lasts approximately 50min. The bout, in turn, is repeated if necessary, according to the rabbit's perception of whether or not the nest is finished. We administered SCH23390 (5-100μg/kg; D1/D5 antagonist) or raclopride (0.05-1.0mg/kg; D2/D3 antagonist), subcutaneously to day 28 pregnant female rabbits, 30 or 60min before placing straw inside their home cage. At doses that minimally affected ambulatory behavior in open field (5-12.5μg/kg SCH23390, 0.5-1.0mg/kg raclopride), both antagonists dramatically reduced bout duration while not significantly affecting the initiation of straw carrying behavior, the sequential performance of the individual cycle components, maximum cycle frequency, or the total number of bouts performed. These results point to an important role for dopamine neurotransmission for the prolonged expression of a normal, repetitive and compulsive-like behavior. Moreover, the finding that dopamine receptor antagonists decrease the time spent engaged in repetitive behavior (without significantly altering the form of the repetitive behavior itself) suggests a possible explanation for why neuroleptics can be clinically effective for treating OCD.

  7. Restricted, Repetitive Behaviors in Autism Spectrum Disorder and Obsessive-Compulsive Disorder: A Comparative Review.

    Science.gov (United States)

    Jiujias, Marina; Kelley, Elizabeth; Hall, Layla

    2017-03-09

    This review paper critically examines literature regarding restricted and repetitive behaviors (RRBs) in Autism Spectrum Disorder (ASD) and Obsessive-Compulsive Disorder (OCD). The similar behavioral profiles of these disorders presents the potential for confusion regarding diagnoses and intervention efforts. As such, this review highlights the similarities and differences between RRBs in ASD and OCD. The developmental trajectories of RRBs are presented, followed by an exploration of three constructs implicated in RRB manifestation: anxiety, executive functioning, and sensory phenomena. While RRBs tend to develop with some similarity in both disorders, the differing role of anxiety highlights important distinctions between ASD and OCD. We urge researchers and clinicians to think critically about the dimensions that affect RRB presentation. Future research should use this review as a starting point to further elucidate the differences between RRBs in these two populations.

  8. How Are Child Restricted and Repetitive Behaviors Associated with Caregiver Stress over Time? A Parallel Process Multilevel Growth Model

    Science.gov (United States)

    Harrop, Clare; McBee, Matthew; Boyd, Brian A.

    2016-01-01

    The impact of raising a child with autism spectrum disorder (ASD) is frequently accompanied by elevated caregiver stress. Examining the variables that predict these elevated rates will help us understand how caregiver stress is impacted by and impacts child behaviors. This study explored how restricted and repetitive behaviors (RRBs) contributed…

  9. Changes in Restricted Repetitive Behaviors with Age: A Study of High-Functioning Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Chowdhury, Monali; Benson, Betsey A.; Hillier, Ashleigh

    2010-01-01

    The existing literature suggests that while impairments in Autism Spectrum Disorders (ASDs) continue into adulthood, some behavioral symptoms tend to abate with age. However, there is a dearth of research examining changes in ASD symptoms from childhood to adulthood, especially for Restricted Repetitive Behaviors (RRBs). We examined age-related…

  10. Repetitive negative thinking predicts depression and anxiety symptom improvement during brief cognitive behavioral therapy.

    Science.gov (United States)

    Kertz, Sarah J; Koran, Jennifer; Stevens, Kimberly T; Björgvinsson, Thröstur

    2015-05-01

    Repetitive negative thinking (RNT) is a common symptom across depression and anxiety disorders and preliminary evidence suggests that decreases in rumination and worry are related to improvement in depression and anxiety symptoms. However, despite its prevalence, relatively little is known about transdiagnostic RNT and its temporal associations with symptom improvement during treatment. The current study was designed to examine the influence of RNT on subsequent depression and anxiety symptoms during treatment. Participants (n = 131; 52% female; 93% White; M = 34.76 years) were patients presenting for treatment in a brief, cognitive behavior therapy based, partial hospitalization program. Participants completed multiple assessments of depression (Center for the Epidemiological Studies of Depression-10 scale), anxiety (the 7-item Generalized Anxiety Disorder Scale), and repetitive negative thinking (Perseverative Thinking Questionnaire) over the course of treatment. Results indicated statistically significant between and within person effects of RNT on depression and anxiety, even after controlling for the effect of time, previous symptom levels, referral source, and treatment length. RNT explained 22% of the unexplained variability in depression scores and 15% of the unexplained variability in anxiety scores beyond that explained by the control variables. RNT may be an important transdiagnostic treatment target for anxiety and depression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  11. Suppression of NMDA receptor function in mice prenatally exposed to valproic acid improves social deficits and repetitive behaviors

    Directory of Open Access Journals (Sweden)

    Jaeseung eKang

    2015-05-01

    Full Text Available Animals prenatally exposed to valproic acid (VPA, an antiepileptic agent, have been used as a model for autism spectrum disorders (ASDs. Previous studies have identified enhanced NMDA receptor (NMDAR function in the brain of VPA rats, and demonstrated that pharmacological suppression of NMDAR function normalizes social deficits in these animals. However, whether repetitive behavior, another key feature of ASDs, can be rescued by NMDAR inhibition remains unknown. We report here that memantine, an NMDAR antagonist, administered to VPA mice rescues both social deficits and repetitive behaviors such as self-grooming and jumping. These results suggest that suppression of elevated NMDAR function in VPA animals normalizes repetitive behaviors in addition to social deficits.

  12. Novel Object Exploration as a Potential Assay for Higher Order Repetitive Behaviors in Mice.

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    Steinbach, Jessica M; Garza, Elizabeth T; Ryan, Bryce C

    2016-08-20

    Restricted, repetitive behaviors (RRBs) are a core feature of autism spectrum disorder (ASD) and disrupt the lives of affected individuals. RRBs are commonly split into lower-order and higher-order components, with lower order RRBs consisting of motor stereotypies and higher order RRBs consisting of perseverative and sequencing behaviors. Higher order RRBs are challenging to model in mice. Current assays for RRBs in mice focus primarily on the lower order components, making basic biomedical research into potential treatments or interventions for higher-order RRBs difficult. Here we describe a new assay, novel object exploration. This assay uses a basic open-field arena with four novel objects placed around the perimeter. The test mouse is allowed to freely explore the arena and the order in which the mouse investigates the novel objects is recorded. From these data, patterned sequences of exploration can be identified, as can the most preferred object for each mouse. The representative data shared here and past results using the novel object exploration assay illustrate that inbred mouse strains do demonstrate different behavior in this assay and that strains with elevated lower order RRBs also show elevated patterned behavior. As such, the novel object exploration assay appears to possess good face validity for higher order RRBs in humans and may be a valuable assay for future studies investigating novel therapeutics for ASD.

  13. Repetitive transcranial magnetic stimulation to treat substance use disorders and compulsive behavior.

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    Protasio, Maria I B; da Silva, João P L; Arias-Carrión, Oscar; Nardi, Antonio E; Machado, Sergio; Cruz, Marcelo S

    2015-01-01

    Compulsions, like pathological gambling, binge-eating disorder, alcohol, tobacco or cocaine abuse and compulsive shopping have similar neurophysiological processing. This study aimed to examine the efficacy of repetitive transcranial magnetic stimulation (rTMS) in improving patient control over compulsive behavior. The rTMS modulatory role in cortical mesolimbic pathways possibly implies improvement of the inhibitory control system and compulsive consumption drive. Thus, craving reduction would be a component for control achievement. Within this context, 17 studies were found. Most studies applied rTMS over the left dorsolateral prefrontal cortex. Craving reduction was observed in 10 studies and was associated with improved control of compulsion in two of them. In one study reduction in consumption was found without reduction in craving. In addition, improvement in decision making was found in one study.

  14. Elevated levels of the vesicular monoamine transporter and a novel repetitive behavior in the Drosophila model of fragile X syndrome.

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    John M Tauber

    Full Text Available Fragile X Syndrome (FXS is characterized by mental impairment and autism in humans, and it often features hyperactivity and repetitive behaviors. The mechanisms for the disease, however, remain poorly understood. Here we report that the dfmr1 mutant in the Drosophila model of FXS grooms excessively, which may be regulated differentially by two signaling pathways. Blocking metabotropic glutamate receptor signaling enhances grooming in dfmr1 mutant flies, whereas blocking the vesicular monoamine transporter (VMAT suppresses excessive grooming. dfmr1 mutant flies also exhibit elevated levels of VMAT mRNA and protein. These results suggest that enhanced monoamine signaling correlates with repetitive behaviors and hyperactivity associated with FXS.

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

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    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.

  16. 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

  17. 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

    2016-01-01

    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.

  18. The impact of caregiver-mediated JASPER on child restricted and repetitive behaviors and caregiver responses.

    Science.gov (United States)

    Harrop, Clare; Gulsrud, Amanda; Shih, Wendy; Hovsepyan, Lilit; Kasari, Connie

    2016-12-02

    Restricted and repetitive behaviors (RRBs) are a core feature of autism spectrum disorder (ASD). Compared to the social-communication impairments, we know considerably less about why children engage in RRBs and if and how to intervene with these behaviors. As a result, early intervention has typically focused on social-communication. In this study, we were interested in understanding how child RRBs changed following an intervention targeting social-communication behaviors and if caregiver training changed how they responded to their child's RRBs. Eighty-six toddlers with ASD and their caregivers received one of two interventions: caregivers were either actively coached while playing with their child (JASPER) or attended information sessions about ASD. On three different occasions (when they entered the study, following 10 weeks of intervention and 6-months after) caregivers were filmed playing with their child. From these recordings, we coded child RRBs and caregiver responses to these behaviors. Child RRBs remained relatively stable following intervention in both groups, but increased when the children returned at 6-months. Caregivers who received one-on-one coaching (JASPER) responded to a greater number of their child's RRBs and their responses were rated as more successful. Our study showed that a short-term social-communication intervention delivered through caregivers had "spillover effects" on how they also responded to their child's RRBs. Interventions targeting social-communication behaviors should also examine how these treatments affect child RRBs and how caregiver responses to these behaviors may change following training. Autism Res 2017, 0: 000-000. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  19. Restricted and Repetitive Behaviors in Autism Spectrum Disorders and Typical Development: Cross-Sectional and Longitudinal Comparisons

    Science.gov (United States)

    Harrop, Clare; McConachie, Helen; Emsley, Richard; Leadbitter, Kathy; Green, Jonathan

    2014-01-01

    Restricted and repetitive behaviors (RRBs) are characteristic of autism spectrum disorders (ASD). However, compared to social and communicative impairments, less is known about their development, trajectory and etiology. This study explored RRBs in young children with ASD matched to typically developing (TD) children on non-verbal development.…

  20. Brief report: the dopamine-3-receptor gene (DRD3) is associated with specific repetitive behavior in autism spectrum disorder (ASD)

    NARCIS (Netherlands)

    Staal, W.G.; Krom, M. de; Jonge, M.V. de

    2012-01-01

    Recently the DRD3 gene has been associated with ASD in two independent samples. Follow up analysis of the risk allele of the SNP rs167771 in 91 subjects revealed a significant association with a specific type of repetitive behavior: the factor "insistence on sameness" (IS) derived from the Autism Di

  1. GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism.

    Science.gov (United States)

    Silverman, J L; Pride, M C; Hayes, J E; Puhger, K R; Butler-Struben, H M; Baker, S; Crawley, J N

    2015-08-01

    Autism spectrum disorder (ASD) is diagnosed by two core behavioral criteria, unusual reciprocal social interactions and communication, and stereotyped, repetitive behaviors with restricted interests. Excitatory/inhibitory imbalance is a prominent hypothesis for the etiology of autism. The selective GABAB receptor agonist R-baclofen previously reversed social deficits and reduced repetitive behaviors in a mouse model of Fragile X syndrome, and Arbaclofen improved some clinical symptoms in some Fragile X and ASD patients. To evaluate R-baclofen in a broader range of mouse models of ASD, we tested both the R-baclofen enantiomer and the less potent S-baclofen enantiomer in two inbred strains of mice that display low sociability and/or high repetitive or stereotyped behaviors. R-baclofen treatment reversed social approach deficits in BTBR T+ Itpr3tf/J (BTBR), reduced repetitive self-grooming and high marble burying scores in BTBR, and reduced stereotyped jumping in C58/J (C58), at nonsedating doses. S-baclofen produced minimal effects at the same doses. These findings encourage investigations of R-baclofen in other preclinical model systems. Additional clinical studies may be warranted to further evaluate the hypothesis that the GABAB receptor represents a promising pharmacological target for treating appropriately stratified subsets of individuals with ASD.

  2. Does Gender Moderate Core Deficits in ASD? An Investigation into Restricted and Repetitive Behaviors in Girls and Boys with ASD

    Science.gov (United States)

    Harrop, Clare; Gulsrud, Amanda; Kasari, Connie

    2015-01-01

    Due to the uneven gender ratio of autism spectrum disorders (ASD), girls are rarely studied independently from boys. Research focusing on restricted and repetitive behaviors (RRBs) indicates that above the age of six girls have fewer and/or different RRBs than boys with ASD. In this study we investigated whether girls and boys with ASD…

  3. Restricted and Repetitive Behaviors in Autism Spectrum Disorders and Typical Development: Cross-Sectional and Longitudinal Comparisons

    Science.gov (United States)

    Harrop, Clare; McConachie, Helen; Emsley, Richard; Leadbitter, Kathy; Green, Jonathan

    2014-01-01

    Restricted and repetitive behaviors (RRBs) are characteristic of autism spectrum disorders (ASD). However, compared to social and communicative impairments, less is known about their development, trajectory and etiology. This study explored RRBs in young children with ASD matched to typically developing (TD) children on non-verbal development.…

  4. Receptive and Expressive Language as Predictors of Restricted and Repetitive Behaviors in Young Children with Autism Spectrum Disorders

    Science.gov (United States)

    Ray-Subramanian, Corey E.; Ellis Weismer, Susan

    2012-01-01

    This study examined whether language skills and nonverbal cognitive skills were associated with clinician-observed restricted and repetitive behaviors (RRBs) in a sample of 115 children with autism spectrum disorders (ASD) at ages 2 and 3. By age 3, RRBs were significantly negatively correlated with receptive and expressive language, as well as…

  5. Does Gender Moderate Core Deficits in ASD? An Investigation into Restricted and Repetitive Behaviors in Girls and Boys with ASD

    Science.gov (United States)

    Harrop, Clare; Gulsrud, Amanda; Kasari, Connie

    2015-01-01

    Due to the uneven gender ratio of autism spectrum disorders (ASD), girls are rarely studied independently from boys. Research focusing on restricted and repetitive behaviors (RRBs) indicates that above the age of six girls have fewer and/or different RRBs than boys with ASD. In this study we investigated whether girls and boys with ASD…

  6. Repetitive transcranial magnetic stimulation affects behavior by biasing endogenous cortical oscillations

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    Massihullah Hamidi

    2009-06-01

    Full Text Available A governing assumption about repetitive transcranial magnetic stimulation (rTMS has been that it interferes with task-related neuronal activity – in effect, by “injecting noise” into the brain – and thereby disrupts behavior. Recent reports of rTMS-produced behavioral enhancement, however, call this assumption into question. We investigated the neurophysiological effects of rTMS delivered during the delay period of a visual working memory task by simultaneously recording brain activity with electroencephalography (EEG. Subjects performed visual working memory for locations or for shapes, and in half the trials a 10-Hz train of rTMS was delivered to the superior parietal lobule or a control brain area. The wide range of individual differences in the effects of rTMS on task accuracy, from improvement to impairment, was predicted by individual differences in the effect of rTMS on power in the alpha-band of the EEG (~ 10 Hz: a decrease in alpha-band power corresponded to improved performance, whereas an increase in alpha-band power corresponded to the opposite. The EEG effect was localized to cortical sources encompassing the frontal eye fields and the intraparietal sulcus, and was specific to task (location, but not object memory and to rTMS target (superior parietal lobule, not control area. Furthermore, for the same task condition, rTMS-induced changes in cross-frequency phase synchrony between alpha- and gamma-band (> 40 Hz oscillations predicted changes in behavior. These results suggest that alpha-band oscillations play an active role cognitive processes and do not simply reflect absence of processing. Furthermore, this study shows that the complex effects of rTMS on behavior can result from biasing endogenous patterns of network-level oscillations.

  7. The Relationship of Repetitive Behavior and Sensory Behavior to Parenting Stress in Mothers of Boys with Autism and Mothers of Boys with Fragile X Syndrome

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    Richardson, Lolita Lisa

    2010-01-01

    This study investigated the relationship between repetitive behaviors and sensory behavior to the parenting stress of mothers of boys with fragile X syndrome and mothers of boys with autism. Participants consisted of two groups: 51 mothers with boys diagnosed with fragile X syndrome (M = 71.3, SD = 56.5) and 30 mothers with boys diagnosed with…

  8. The Relationship of Repetitive Behavior and Sensory Behavior to Parenting Stress in Mothers of Boys with Autism and Mothers of Boys with Fragile X Syndrome

    Science.gov (United States)

    Richardson, Lolita Lisa

    2010-01-01

    This study investigated the relationship between repetitive behaviors and sensory behavior to the parenting stress of mothers of boys with fragile X syndrome and mothers of boys with autism. Participants consisted of two groups: 51 mothers with boys diagnosed with fragile X syndrome (M = 71.3, SD = 56.5) and 30 mothers with boys diagnosed with…

  9. Is There a Relationship between Restricted, Repetitive, Stereotyped Behaviors and Interests and Abnormal Sensory Response in Children with Autism Spectrum Disorders?

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    Gabriels, Robin L.; Agnew, John A.; Miller, Lucy Jane; Gralla, Jane; Pan, Zhaoxing; Goldson, Edward; Ledbetter, James C.; Dinkins, Juliet P.; Hooks, Elizabeth

    2008-01-01

    This study examined the relation between restricted, repetitive, and stereotyped behaviors and interests (RBs) and sensory responses in a group of 70 children and adolescents diagnosed with an autism spectrum disorder (ASD). Caregivers completed the Repetitive Behavior Scale-Revised (RBS-R) and the Sensory Profile. Controlling for IQ and age,…

  10. Autism-related behavioral phenotypes in an inbred rat substrain.

    Science.gov (United States)

    Zhang-James, Yanli; Yang, Li; Middleton, Frank A; Yang, Lina; Patak, Jameson; Faraone, Stephen V

    2014-08-01

    Behavioral and genetic differences among Wistar-Kyoto (WKY) rats from different vendors and different breeders have long been observed, but generally overlooked. In our prior work, we found that two closely related WKY substrains, the WKY/NCrl and WKY/NHsd rats, differ in a small percentage of their genome which appeared to be highly enriched for autism risk genes. Although both substrains have been used widely in studies of hypertension, attention deficit/hyperactivity disorder (ADHD) and depression, they have not been tested for any autism-related behavioral phenotypes. Furthermore, these two substrains have often been used interchangeably in previous studies; no study has systematically examined the phenotypic differences that could be attributed by their small yet potentially meaningful genetic differences. In this paper we compared these two substrains on a battery of neurobehavioral tests. Although two substrains were similar in locomotor activity, WKY/NCrl rats were significantly different from WKY/NHsd rats in the elevated plus maze test, as well as measures of social interaction and ultrasonic vocalization. These strains were also compared with Sprague Dawley (SD) rats, a common outbred strain, and spontaneous hypertensive rats (SHR), an inbred rat model for ADHD and hypertension, which were derived from the same ancestor strain as the WKY strains. Our behavioral findings suggest that WKY/NCrl rats may be useful as a model autism spectrum disorders due to their lower social interest, lower ultrasonic vocalization and higher anxiety levels when WKY/NHsd rats are used as the control strain. Given the small genetic difference between the two inbred substrains, future studies to identify the exact gene and sequence variants that differ between the two may be useful for identifying the genetic mechanisms underlying these behaviors.

  11. Phenotypic and behavioral variability within Angelman Syndrome group with UPD

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    Fridman Cintia

    2002-01-01

    Full Text Available The Angelman syndrome (AS (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD, imprinting, or UBE3A mutations. We describe here the phenotypic and behavioral variability detected in eight UPD patients out of a group of 58 AS patients studied. All of them presented developmental delay, mental retardation, ataxia, speech impairment, and frequent drooling. Only one had microcephaly, whereas in two of them the OFC (head circumference was above the 98th percentile. The weight of all patients was above the 50th percentile, and in three of them the height was above the 90th percentile. Three were able to say a few words and to communicate by gestures. Two patients presented hyperphagia, and three presented skin picking, common features in the Prader-Willi syndrome (PWS. Four patients (4/7 had wide-spaced teeth. Five presented seizures, and two others did not manifest frequent laughter. One patient was very different from the others, as he showed a better understanding and abilities to communicate, to play video games and to draw. We suggest here that there seems to be an extreme phenotypic and behavioral variability within the UPD group, and that both typical patients and those with mental retardation, language impairment, happy disposition, and hyperactivity should be tested for AS.

  12. Masked repetition priming hinders subsequent recollection but not familiarity: A behavioral and event-related potential study.

    Science.gov (United States)

    Li, Bingbing; Wang, Wei; Gao, Chuanji; Guo, Chunyan

    2016-10-01

    The present study used the masked repetition priming paradigm in the study phase and the R/K paradigm in the test phase to investigate whether repetition priming can hinder recognition memory and which recognition process (familiarity or recollection) is hindered. Event-related potentials (ERPs) in the study and test phase were recorded to explore the temporal course of how repetition priming hinders subsequent recognition memory and which old/new effect (FN400 or LPC) is affected. Converging behavioral and ERP results indicated that masked repetition priming hindered subsequent recollection but not familiarity. The analysis of ERP priming effects in the study phase indicated that primed words were associated with less negative N400 and less positive LPC compared to unprimed words. The analysis of the priming effect as a function of subsequent memory revealed that only the LPC priming effect was predictive of priming effect on subsequent memory, which suggested that the "prediction-error" account might be a possible explanation of how repetition priming affects subsequent recognition memory.

  13. Repetitive behavior and restricted interests in young children with autism: comparisons with controls and stability over 2 years.

    Science.gov (United States)

    Joseph, Lisa; Thurm, Audrey; Farmer, Cristan; Shumway, Stacy

    2013-12-01

    Restricted, repetitive and stereotyped patterns of behavior, interests and activities [RRBs] are among the core symptoms of autism spectrum disorders (ASD). Previous studies have indicated that RRBs differentiate ASD from other developmental disorders and from typical development. This study examined the presentation of RRBs as reported on the Repetitive Behavior Scale-Revised, a caregiver report, in children with ASD [separated into autism and Pervasive Developmental Disorder-Not Otherwise Specified groups] compared with children with nonspectrum developmental delays or typical development. We examined the role of age, cognitive functioning, sex and social communication impairment as they relate to RRBs. The stability of RRBs in children with autism was also examined over the course of 2 years. Results of the study confirmed that the amount and type of RRBs differs by diagnosis. Age, cognitive functioning, sex and social-communication impairment were not significant correlates. Among children with autism, RRBs remained stable over time.

  14. Motor learning in individuals with autism spectrum disorder: activation in superior parietal lobule related to learning and repetitive behaviors.

    Science.gov (United States)

    Travers, Brittany G; Kana, Rajesh K; Klinger, Laura G; Klein, Christopher L; Klinger, Mark R

    2015-02-01

    Motor-linked implicit learning is the learning of a sequence of movements without conscious awareness. Although motor symptoms are frequently reported in individuals with autism spectrum disorder (ASD), recent behavioral studies have suggested that motor-linked implicit learning may be intact in ASD. The serial reaction time (SRT) task is one of the most common measures of motor-linked implicit learning. The present study used a 3T functional magnetic resonance imaging scanner to examine the behavioral and neural correlates of real-time motor sequence learning in adolescents and adults with ASD (n = 15) compared with age- and intelligence quotient-matched individuals with typical development (n = 15) during an SRT task. Behavioral results suggested less robust motor sequence learning in individuals with ASD. Group differences in brain activation suggested that individuals with ASD, relative to individuals with typical development, showed decreased activation in the right superior parietal lobule (SPL) and right precuneus (Brodmann areas 5 and 7, and extending into the intraparietal sulcus) during learning. Activation in these areas (and in areas such as the right putamen and right supramarginal gyrus) was found to be significantly related to behavioral learning in this task. Additionally, individuals with ASD who had more severe repetitive behavior/restricted interest symptoms demonstrated greater decreased activation in these regions during motor learning. In conjunction, these results suggest that the SPL may play an important role in motor learning and repetitive behavior in individuals with ASD.

  15. The Risk of Repetition of Attempted Suicide Among Iranian Women with Psychiatric Disorders as Quantified by the Suicide Behaviors Questionnaire

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    Jalal Shakeri

    2015-05-01

    Full Text Available Objectives: The factors associated with repetition of attempted suicide are poorly categorized in the Iranian population. In this study, the prevalence of different psychiatric disorders among women who attempted suicide and the risk of repetition were assessed. Methods: Participants were women admitted to the Poisoning Emergency Hospital, Kermanshah University of Medical Sciences following failed suicide attempts. Psychiatric disorders were diagnosed based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV symptom checklist. Risk of repetition was evaluated using the Suicide Behaviors Questionnaire-Revised (SBQ-R. Results: About 72% of individuals had a SBQ-R score >8 and were considered to be at high risk for repeated attempted suicide. Adjustment disorders were the most common psychiatric disorders (40.8%. However, the type of psychiatric disorder was not associated with the risk of repetition (p=0.320. Marital status, educational level, employment, substance use, history of suicide among family members, and motivation were not determinant factors for repetition of suicide attempt (p=0.220, 0.880, 0.220, 0.290, 0.350 and 0.270, respectively. Younger women were associated with violent methods of attempted suicide, such as self-cutting, whereas older individuals preferred consumption of poison (p<0.001. Drug overdose was more common among single and married women whereas widows or divorcees preferred self-burning (p=0.004. Conclusion: About 72% of patients with failed suicide attempts were at high risk for repeated attempts. Age, marital status, and type of psychiatric disorder were the only determinants of suicide method. Adjustment disorders were the most common psychiatric disorders among Iranian women. However, this did not predict the risk of further attempts.

  16. Evidence of a Distinct Behavioral Phenotype in Young Boys with Fragile X Syndrome and Autism

    Science.gov (United States)

    Wolff, Jason J.; Bodfish, James W.; Hazlett, Heather C.; Lightbody, Amy A.; Reiss, Allan L.; Piven, Joseph

    2012-01-01

    Objective: How does the behavioral expression of autism in fragile X syndrome (FXS + Aut) compare with idiopathic autism (iAut)? Although social impairments and restricted, repetitive behaviors are common to these variants of autism, closer examination of these symptom domains may reveal meaningful similarities and differences. To this end, the…

  17. Stop and Change: Inhibition and Flexibility Skills Are Related to Repetitive Behavior in Children and Young Adults with Autism Spectrum Disorders

    NARCIS (Netherlands)

    Mostert-Kerckhoffs, M.A.; Staal, W.G.; Houben, R.H.; Jonge, M.V. de

    2015-01-01

    Cognitive control dysfunctions, like inhibitory and attentional flexibility deficits are assumed to underlie repetitive behavior in individuals with autism spectrum disorders (ASD). In the present study, prepotent response inhibition and attentional flexibility were examined in 64 high-functioning

  18. Stop and Change : Inhibition and Flexibility Skills Are Related to Repetitive Behavior in Children and Young Adults with Autism Spectrum Disorders

    NARCIS (Netherlands)

    Mostert-Kerckhoffs, Mandy A L; Staal, Wouter G.; Houben, Renske H.; de Jonge, Maretha V.

    2015-01-01

    Cognitive control dysfunctions, like inhibitory and attentional flexibility deficits are assumed to underlie repetitive behavior in individuals with autism spectrum disorders (ASD). In the present study, prepotent response inhibition and attentional flexibility were examined in 64 high-functioning

  19. Stop and Change: Inhibition and Flexibility Skills Are Related to Repetitive Behavior in Children and Young Adults with Autism Spectrum Disorders

    NARCIS (Netherlands)

    Mostert-Kerckhoffs, M.A.; Staal, W.G.; Houben, R.H.; Jonge, M.V. de

    2015-01-01

    Cognitive control dysfunctions, like inhibitory and attentional flexibility deficits are assumed to underlie repetitive behavior in individuals with autism spectrum disorders (ASD). In the present study, prepotent response inhibition and attentional flexibility were examined in 64 high-functioning i

  20. Family patterns of development dyslexia, Part II: Behavioral phenotypes

    Energy Technology Data Exchange (ETDEWEB)

    Wolff, P.H.; Melngailis, I.; Bedrosian, M. [Childrens Hospital, Boston, MA (United States)] [and others

    1995-12-18

    The motor control of bimanual coordination and motor speech was compared between first degree relatives from families with at least 2 dyslexic family members, and families where probands were the only affected family members. Half of affected relatives had motor coordination deficits; and they came from families in which probands also showed impaired motor coordination. By contrast, affected relatives without motor deficits came from dyslexia families where probands did not have motor deficits. Motor coordination deficits were more common and more severe among affected offspring in families where both parents were affected than among affected offspring in families where only one parent was affected. However, motor coordination deficits were also more common and more severe in affected parents when both parents were affected than among affected parents in families where only one parent was affected. We conclude that impaired temporal resolution in motor action identifies a behavioral phenotype in some subtypes of developmental dyslexia. The observed pattern of transmission for motor deficits and reading impairment in about half of dyslexia families was most congruent with a genetic model of dyslexia in which 2 codominant major genes cosegregate in dyslexia pedigrees where the proband is also motorically impaired. 54 refs., 5 figs., 5 tabs.

  1. Alterations in grooming activity and syntax in heterozygous SERT and BDNF knockout mice: the utility of behavior-recognition tools to characterize mutant mouse phenotypes.

    Science.gov (United States)

    Kyzar, Evan J; Pham, Mimi; Roth, Andrew; Cachat, Jonathan; Green, Jeremy; Gaikwad, Siddharth; Kalueff, Allan V

    2012-12-01

    Serotonin transporter (SERT) and brain-derived neurotrophic factor (BDNF) are key modulators of molecular signaling, cognition and behavior. Although SERT and BDNF mutant mouse phenotypes have been extensively characterized, little is known about their self-grooming behavior. Grooming represents an important behavioral domain sensitive to environmental stimuli and is increasingly used as a model for repetitive behavioral syndromes, such as autism and attention deficit/hyperactivity disorder. The present study used heterozygous ((+/-)) SERT and BDNF male mutant mice on a C57BL/6J background and assessed their spontaneous self-grooming behavior applying both manual and automated techniques. Overall, SERT(+/-) mice displayed a general increase in grooming behavior, as indicated by more grooming bouts and more transitions between specific grooming stages. SERT(+/-) mice also aborted more grooming bouts, but showed generally unaltered activity levels in the observation chamber. In contrast, BDNF(+/-) mice displayed a global reduction in grooming activity, with fewer bouts and transitions between specific grooming stages, altered grooming syntax, as well as hypolocomotion and increased turning behavior. Finally, grooming data collected by manual and automated methods (HomeCageScan) significantly correlated in our experiments, confirming the utility of automated high-throughput quantification of grooming behaviors in various genetic mouse models with increased or decreased grooming phenotypes. Taken together, these findings indicate that mouse self-grooming behavior is a reliable behavioral biomarker of genetic deficits in SERT and BDNF pathways, and can be reliably measured using automated behavior-recognition technology.

  2. Application of the Repetitive Behavior Scale-Revised--Italian version--in preschoolers with autism spectrum disorder.

    Science.gov (United States)

    Fulceri, Francesca; Narzisi, Antonio; Apicella, Fabio; Balboni, Giulia; Baldini, Sara; Brocchini, Jenny; Domenici, Ilaria; Cerullo, Sonia; Igliozzi, Roberta; Cosenza, Angela; Tancredi, Raffaella; Muratori, Filippo; Calderoni, Sara

    2016-01-01

    Restricted repetitive and stereotyped patterns of behavior, interests, and activities (RRB) are mandatory features for a diagnosis of Autism Spectrum Disorder (ASD) according to the Diagnostic and Statistical Manual of mental disorders-fifth edition (DSM-5). Despite the strong diagnostic role of RRB, their expressiveness and their relationship with other clinical/demographic features in ASD is not fully elucidated. The Italian version of the Repetitive Behavior Scale-Revised (RBS-R) was applied to a relatively large sample of preschool-aged children with ASD who underwent a comprehensive clinical assessment. The relationship between RRB and sex, age, non-verbal IQ, autism severity, as well as the diagnostic accuracy of the RBS-R were explored. Stereotyped and Ritualistic/Sameness behaviors were the most common RRB in preschoolers with ASD, without widespread differences between males and females. No significant correlations between RRB and chronological age, or non-verbal IQ were detected. The expressiveness of ritualistic/sameness behaviors positively correlated with autism severity, assessed through the Calibrated Severity Score (CSS) derived from the Autism Diagnostic Observation Schedule (ADOS). Receiver Operator Characteristic (ROC) analysis showed high diagnostic accuracy using the Global Rating Score, which represents the judgment of the parents of as the RRB affect the child's life. However, while the Global Rating Score performed well, the remaining subscales did not. This investigation extends the limited research on early pattern and associated features of RRB in young children with ASD. The use of the RBS-R may increase the knowledge of the RRB complexity and variability and in turn improve the diagnostic and therapeutic procedures within the autistic spectrum.

  3. Brief Report: Glutamate Transporter Gene ("SLC1A1") Single Nucleotide Polymorphism (rs301430) and Repetitive Behaviors and Anxiety in Children with Autism Spectrum Disorder

    Science.gov (United States)

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

    2010-01-01

    Investigated association of single nucleotide polymorphism (SNP) rs301430 in glutamate transporter gene ("SLC1A1") with severity of repetitive behaviors (obsessive-compulsive behaviors, tics) and anxiety in children with autism spectrum disorder (ASD). Mothers and/or teachers completed a validated DSM-IV-referenced rating scale for 67 children…

  4. Two years changes in the development of caudate nucleus are involved in restricted repetitive behaviors in 2-5-year-old children with autism spectrum disorder.

    Science.gov (United States)

    Qiu, Ting; Chang, Chen; Li, Yun; Qian, Lu; Xiao, Chao Yong; Xiao, Ting; Xiao, Xiang; Xiao, Yun Hua; Chu, Kang Kang; Lewis, Mark H; Ke, Xiaoyan

    2016-06-01

    Caudate nucleus volume is enlarged in autism spectrum disorder (ASD) and is associated with restricted and repetitive behaviors (RRBs). However, the trajectory of caudate nucleus volume in RRBs of young children remains unclear. Caudate nucleus volume was measured in 36 children with ASD and 18 matched 2-3-year-old subjects with developmentally delayed (DD) at baseline (Time 1) and at 2-year follow-up (Time 2). The differential growth rate in caudate nucleus volume was calculated. Further, the relationships between the development of caudate nucleus volume and RRBs were analyzed. Our results showed that caudate nucleus volume was significantly larger in the ASD group at both time points and the magnitude of enlargement was greater at Time 2. The rate of caudate nucleus growth during this 2-year interval was faster in children with ASD than DD. Right caudate nucleus volume growth was negatively correlated with RRBs. Findings from this study suggest developmental abnormalities of caudate nucleus volume in ASD. Longitudinal MRI studies are needed to explore the correlation between atypical growth patterns of caudate nucleus and phenotype of RRBs.

  5. Two years changes in the development of caudate nucleus are involved in restricted repetitive behaviors in 2–5-year-old children with autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Ting Qiu

    2016-06-01

    Full Text Available Caudate nucleus volume is enlarged in autism spectrum disorder (ASD and is associated with restricted and repetitive behaviors (RRBs. However, the trajectory of caudate nucleus volume in RRBs of young children remains unclear. Caudate nucleus volume was measured in 36 children with ASD and 18 matched 2–3-year-old subjects with developmentally delayed (DD at baseline (Time 1 and at 2-year follow-up (Time 2. The differential growth rate in caudate nucleus volume was calculated. Further, the relationships between the development of caudate nucleus volume and RRBs were analyzed. Our results showed that caudate nucleus volume was significantly larger in the ASD group at both time points and the magnitude of enlargement was greater at Time 2. The rate of caudate nucleus growth during this 2-year interval was faster in children with ASD than DD. Right caudate nucleus volume growth was negatively correlated with RRBs. Findings from this study suggest developmental abnormalities of caudate nucleus volume in ASD. Longitudinal MRI studies are needed to explore the correlation between atypical growth patterns of caudate nucleus and phenotype of RRBs.

  6. Modeling combined schizophrenia-related behavioral and metabolic phenotypes in rodents

    NARCIS (Netherlands)

    Sarnyai, Zoltán; Jashar, Cassandra; Olivier, Berend

    2015-01-01

    Schizophrenia is a chronic, debilitating disorder with a complex behavioral and cognitive phenotype underlined by a similarly complex etiology involving an interaction between susceptibility genes and environmental factors during early development. Limited progress has been made in developing novel

  7. Effectiveness of Interventions to Improve Social Participation, Play, Leisure, and Restricted and Repetitive Behaviors in People With Autism Spectrum Disorder: A Systematic Review.

    Science.gov (United States)

    Tanner, Kelly; Hand, Brittany N; O'Toole, Gjyn; Lane, Alison E

    2015-01-01

    People with autism spectrum disorder (ASD) commonly experience difficulties with social participation, play, and leisure along with restricted and repetitive behaviors that can interfere with occupational performance. The objective of this systematic review was to evaluate current evidence for interventions within the occupational therapy scope of practice that address these difficulties. Strong evidence was found that social skills groups, the Picture Exchange Communication System, joint attention interventions, and parent-mediated strategies can improve social participation. The findings were less conclusive for interventions to improve play and leisure performance and to decrease restricted and repetitive behaviors, but several strategies showed promise with moderately strong supporting evidence. Occupational therapists should be guided by evidence when considering interventions to improve social participation, play, leisure, and restricted and repetitive behaviors in people with ASD. Additional research using more robust scientific methods is needed for many of the currently available strategies.

  8. Maladaptive and Repetitive Behaviors in Children with Down Syndrome and Autism Spectrum Disorders: Implications for Screening

    Science.gov (United States)

    Hepburn, Susan L.; MacLean, William E.

    2009-01-01

    Researchers and clinicians are recognizing that a subgroup of children with Down syndrome (DS) also present with clinically significant impairments in social-communication and restricted patterns of behavior, such as those that characterize autism spectrum disorders (ASD). Efforts to better describe the behavioral presentation of children with…

  9. Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder.

    Science.gov (United States)

    Uljarević, Mirko; Hedley, Darren; Alvares, Gail A; Varcin, Kandice J; Whitehouse, Andrew J O

    2017-03-16

    This study explored the relationships between the later age of achievement of early motor milestones, current motor atypicalities (toe walking), and the severity of restricted and repetitive behaviors (RRBs) in individuals with autism spectrum disorder (ASD). Parents of 147 children and adolescents with ASD (Mage  = 8.09 years, SD = 4.28; 119 males) completed an early developmental milestones questionnaire and the Social Responsiveness Scale as a measure of Insistence on Sameness (IS) and Repetitive Mannerisms (RM). Two hierarchical regression analyses were conducted to test whether RM and IS behaviors were predicted by early motor milestones, or current toe walking. The final model predicting RM accounted for 15% of the variance (F = 3.02, p = .009), with toe walking as a unique and independent predictor of RM scores (t = 3.568, p = .001). The final model predicting IS accounted for 19.1% of variance in IS scores (F = 4.045, p = .001), with chronological age (CA) (t = 2.92, p = .004), age when first standing (t = 2.09, p = .038), and toe walking (t = 2.53, p = .013) as unique independent predictors. Toe walking (t = 2.4, p = .018) and age when first sitting (t = 2.08, p = .04) predicted the severity of RRBs on the Autism Diagnostic Observation Schedule (F = 2.334, p = .036). Our study replicates previous findings on the relationship between concurrent motor impairments and RRBs, and provides the first evidence for the association between RRBs and age of attainment of early motor milestones. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  10. Is trichotillomania a stereotypic movement disorder? An analysis of body-focused repetitive behaviors in people with hair-pulling.

    Science.gov (United States)

    Stein, Dan J; Flessner, Christopher A; Franklin, Martin; Keuthen, Nancy J; Lochner, Christine; Woods, Douglas W

    2008-01-01

    Stereotypic movement disorder (SMD) is characterized by nonfunctional repetitive movements, is typically diagnosed in people with intellectual disability, and by definition excludes people with trichotillomania (TTM). Nevertheless, hair-pulling may be one of a number of body-focused repetitive behaviors (BFRBs) that are seen in the general population. Comorbidity of symptoms might support the idea that they are indicative of an underlying stereotypic disorder, and we therefore explored their frequency in people with hair-pulling. Participants were recruited with the help of the Trichotillomania Learning Center, the largest advocacy group for people with hair-pulling. Participants completed a self-report survey on the Internet, which included questions about the presence of both hair-pulling and other BFRBs. Measures included the Massachusetts General Hospital Hairpulling Scale (MGH-HS), the Milwaukee Inventory for Subtypes of Trichotillomania-Adult Version (MIST-A), the Depression and Anxiety Stress Scale (DASS), and the Sheehan Disability Scale (SDS). The majority of participants with hair-pulling (70%) report the presence of other BFRBs, most commonly skin-picking and nail-biting. There were particularly strong associations between the total number of BFRBs and increased scores on ratings of focused hair-pulling, depression, anxiety, stress, and functional impairment. Similar results were found in participants who met more rigorous criteria for trichotillomania. This study is limited by its self-report nature, and by the lack of detailed information on the phenomenology of comorbid BFRBs. While further nosological research is needed, the high rates of these behaviors in people with hair-pulling, and their association with increased disability, is consistent with previous clinical observations, and supports the argument that trichotillomania can usefully be conceptualized as a stereotypic disorder. Speculatively, this argument may be especially valid in

  11. Differences in intestinal microbial metabolites in laying hens with high and low levels of repetitive feather-pecking behavior.

    Science.gov (United States)

    Meyer, Beatrice; Zentek, Jürgen; Harlander-Matauschek, Alexandra

    2013-02-17

    Feather pecking in laying hens is a serious behavioral problem and is often associated with feather eating. There is some evidence that ingested feathers affect gut function. The aim of the present study was to explore whether differences in intestinal microbial metabolites in laying hens with high and low levels of repetitive feather-pecking behavior exist. Sixty high feather-pecking birds (H) and sixty low feather-pecking birds (L) of the White Leghorn breed were used for behavioral recordings of feather pecking. Feather pecking activity was observed for 5 weeks, after which 22 H birds with the highest and 22 L birds with the lowest feather pecking activity were chosen. The number of whole feathers and feather parts in the gizzard and intestinal microbial metabolites in the ileum and ceca of these laying hens was examined. Biogenic amines, short-chain fatty acids, ammonia and lactate were measured as microbial metabolites. A higher number of feather parts and particles were found in H than in L birds. Putrescine and cadaverine concentrations were higher in the ileum of the hens with low pecking activity (P<0.001 and P=0.012). In the cecum the amounts of l-lactate, d-lactate and total lactate and SCFA were higher in H birds (P=0.007, P=0.005, P=0.006, and P<0.001). Acetate, i-butyrate, i-valeriate and n-valeriate all displayed significantly higher molar ratios in the cecal contents of L birds (P=0.001, P=0.003, P=0.001, and P<0.001). Propionate and n-butyrate showed higher molar ratios in H birds (P<0.001 and P=0.034). Ammonia was higher in the ileum and cecum of the L birds (P<0.001 and P=0.004). For the first time, this study shows that birds with high and low numbers of repetitive pecking movements to the plumage of other birds differ in their intestinal microbial metabolism. Further experiments should be conducted to investigate whether these differences alter behavior in H and L feather pecking birds. The present results, however, open new avenues of research

  12. A framework for understanding the emerging role of corticolimbic-ventral striatal networks in OCD-associated repetitive behaviors

    Directory of Open Access Journals (Sweden)

    Jesse eWood

    2015-12-01

    Full Text Available Significant interest in the mechanistic underpinnings of obsessive-compulsive disorder (OCD has fueled research on the neural origins of compulsive behaviors. Converging clinical and preclinical evidence suggests that abnormal repetitive behaviors are driven by dysfunction in cortico-striatal-thalamic-cortical (CSTC circuits. These findings suggest that compulsive behaviors arise, in part, from aberrant communication between lateral orbitofrontal cortex (OFC and dorsal striatum. An important body of work focused on the role of this network in OCD has been instrumental to progress in the field. Disease models focused primarily on these regions, however, fail to capture an important aspect of the disorder: affective dysregulation. High levels of anxiety are extremely prevalent in OCD, as is comorbidity with major depressive disorder. Furthermore, deficits in processing rewards and abnormalities in processing emotional stimuli are suggestive of aberrant encoding of affective information. Accordingly, OCD can be partially characterized as a disease in which behavioral selection is corrupted by exaggerated or dysregulated emotional states. This suggests that the networks producing OCD symptoms likely expand beyond traditional lateral OFC and dorsal striatum circuit models, and highlights the need to cast a wider net in our investigation of the circuits involved in generating and sustaining OCD symptoms. Here, we address the emerging role of medial OFC, amygdala, and ventral tegmental area projections to the ventral striatum (VS in OCD pathophysiology. The VS receives strong innervation from these affect and reward processing regions, and is therefore poised to integrate information crucial to the generation of compulsive behaviors. Though it complements functions of dorsal striatum and lateral OFC, this corticolimbic-VS network is less commonly explored as a potential source of the pathology underlying OCD. In this review we discuss this network

  13. The Effects of Gender and Age on Repetitive and/or Restricted Behaviors and Interests in Adults with Autism Spectrum Disorders and Intellectual Disability

    Science.gov (United States)

    Hattier, Megan A.; Matson, Johnny L.; Tureck, Kimberly; Horovitz, Max

    2011-01-01

    Frequency of repetitive and/or restricted behaviors and interests (RRBIs) was assessed in 140 adults with autism spectrum disorders (ASDs) and severe or profound intellectual disability (ID). The associations of gender and age range were analyzed with RRBI frequency which was obtained using the Stereotypies subscale of the "Diagnostic…

  14. Evidence-Based, Parent-Mediated Interventions for Young Children with Autism Spectrum Disorder: The Case of Restricted and Repetitive Behaviors

    Science.gov (United States)

    Harrop, Clare

    2015-01-01

    Restricted and repetitive behaviors represent a core symptom of autism spectrum disorders. While there has been an increase in research into this domain in recent years, compared to social-communication impairments experienced by children with autism spectrum disorders, much less is known about their development, etiology, and management.…

  15. Cerebrolysin prevents deficits in social behavior, repetitive conduct, and synaptic inhibition in a rat model of autism.

    Science.gov (United States)

    Cuevas-Olguin, Roberto; Roychowdhury, Swagata; Banerjee, Anwesha; Garcia-Oscos, Francisco; Esquivel-Rendon, Eric; Bringas, María Elena; Kilgard, Michael P; Flores, Gonzalo; Atzori, Marco

    2017-06-13

    Autism spectrum disorder (ASD) is a syndrome of diverse neuropsychiatric diseases of growing incidence characterized by repetitive conduct and impaired social behavior and communication for which effective pharmacological treatment is still unavailable. While the mechanisms and etiology of ASD are still unknown, a consensus is emerging about the synaptic nature of the syndrome, suggesting a possible avenue for pharmacological treatment with synaptogenic compounds. The peptidic mixture cerebrolysin (CBL) has been successfully used during the last three decades in the treatment of stroke and neurodegenerative disease. Animal experiments indicate that at least one possible mechanism of action of CBL is through neuroprotection and/or synaptogenesis. In the present study, we tested the effect of CBL treatment (daily injection of 2.5 mL/Kg i.p. during 15 days) on a rat model of ASD. This was based on the offspring (43 male and 51 female pups) of a pregnant female rat injected with valproic acid (VPA, 600 mg/Kg) at the embryonic day 12.5, which previous work has shown to display extensive behavioral, as well as synaptic impairment. Comparison between saline vs. CBL-injected VPA animals shows that CBL treatment improves behavioral as well as synaptic impairments, measured by behavioral performance (social interaction, Y-maze, plus-maze), maximal response of inhibitory γ-amino butyric acid type A receptor (GABAA R)-mediated synaptic currents, as well as their kinetic properties and adrenergic and muscarinic modulation. We speculate that CBL might be a viable and effective candidate for pharmacological treatment or co-treatment of ASD patients. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  16. Behavioral Phenotyping of Juvenile Long-Evans and Sprague-Dawley Rats: Implications for Preclinical Models of Autism Spectrum Disorders.

    Directory of Open Access Journals (Sweden)

    Katherine M Ku

    Full Text Available The laboratory rat is emerging as an attractive preclinical animal model of autism spectrum disorder (ASD, allowing investigators to explore genetic, environmental and pharmacological manipulations in a species exhibiting complex, reciprocal social behavior. The present study was carried out to compare two commonly used strains of laboratory rats, Sprague-Dawley (SD and Long-Evans (LE, between the ages of postnatal day (PND 26-56 using high-throughput behavioral phenotyping tools commonly used in mouse models of ASD that we have adapted for use in rats. We detected few differences between young SD and LE strains on standard assays of exploration, sensorimotor gating, anxiety, repetitive behaviors, and learning. Both SD and LE strains also demonstrated sociability in the 3-chamber social approach test as indexed by spending more time in the social chamber with a constrained age/strain/sex matched novel partner than in an identical chamber without a partner. Pronounced differences between the two strains were, however, detected when the rats were allowed to freely interact with a novel partner in the social dyad paradigm. The SD rats in this particular testing paradigm engaged in play more frequently and for longer durations than the LE rats at both juvenile and young adult developmental time points. Results from this study that are particularly relevant for developing preclinical ASD models in rats are threefold: (i commonly utilized strains exhibit unique patterns of social interactions, including strain-specific play behaviors, (ii the testing environment may profoundly influence the expression of strain-specific social behavior and (iii simple, automated measures of sociability may not capture the complexities of rat social interactions.

  17. Behavioral Phenotyping of Juvenile Long-Evans and Sprague-Dawley Rats: Implications for Preclinical Models of Autism Spectrum Disorders

    Science.gov (United States)

    Ku, Katherine M.; Weir, Ruth K.; Silverman, Jill L.; Berman, Robert F.; Bauman, Melissa D.

    2016-01-01

    The laboratory rat is emerging as an attractive preclinical animal model of autism spectrum disorder (ASD), allowing investigators to explore genetic, environmental and pharmacological manipulations in a species exhibiting complex, reciprocal social behavior. The present study was carried out to compare two commonly used strains of laboratory rats, Sprague-Dawley (SD) and Long-Evans (LE), between the ages of postnatal day (PND) 26–56 using high-throughput behavioral phenotyping tools commonly used in mouse models of ASD that we have adapted for use in rats. We detected few differences between young SD and LE strains on standard assays of exploration, sensorimotor gating, anxiety, repetitive behaviors, and learning. Both SD and LE strains also demonstrated sociability in the 3-chamber social approach test as indexed by spending more time in the social chamber with a constrained age/strain/sex matched novel partner than in an identical chamber without a partner. Pronounced differences between the two strains were, however, detected when the rats were allowed to freely interact with a novel partner in the social dyad paradigm. The SD rats in this particular testing paradigm engaged in play more frequently and for longer durations than the LE rats at both juvenile and young adult developmental time points. Results from this study that are particularly relevant for developing preclinical ASD models in rats are threefold: (i) commonly utilized strains exhibit unique patterns of social interactions, including strain-specific play behaviors, (ii) the testing environment may profoundly influence the expression of strain-specific social behavior and (iii) simple, automated measures of sociability may not capture the complexities of rat social interactions. PMID:27351457

  18. A comparison of the effects of rhythm and robotic interventions on repetitive behaviors and affective states of children with Autism Spectrum Disorder (ASD).

    Science.gov (United States)

    Srinivasan, Sudha M; Park, Isabel K; Neelly, Linda B; Bhat, Anjana N

    2015-10-01

    Repetitive behaviors and poor affect regulation are commonly seen in children with Autism Spectrum Disorder (ASD). We compared the effects of two novel interventions - rhythm and robotic therapies, with those of a standard-of-care intervention, on the repetitive behaviors and affective states of 36 children with ASD between 5 and 12 years using a randomized controlled trial design. We coded for frequencies of sensory, negative, and stereotyped behaviors and the duration of positive, negative, and interested affective states in children during early, mid, and late training sessions. In terms of repetitive behaviors, in the early session, the rhythm and robot groups engaged in greater negative behaviors, whereas the comparison group engaged in greater sensory behaviors. With training, the rhythm group reduced negative behaviors whereas there were no training-related changes in the other groups. In terms of affective states, the rhythm and robot groups showed greater negative affect, whereas the comparison group demonstrated greater interested affect across all sessions. With training, the rhythm group showed a reduction in negative affect and an increase in interested affect whereas the robot group showed a reduction in positive affect. Overall, it appears that rhythm-based interventions are socially engaging treatment tools to target core impairments in autism.

  19. Environmental Influences on the Behavioral Phenotype of Angelman Syndrome

    Science.gov (United States)

    Horsler, Kate; Oliver, Chris

    2006-01-01

    Using observational methods, we examined the social influences on laughing and smiling behavior in children with Angelman syndrome by systematically manipulating aspects of social interaction. Seven boys and 4 girls who were between 4 and 11 years of age and who had a confirmed maternal deletion of chromosome 15q11-q13 completed the study. Each…

  20. Adaptive and Maladaptive Correlates of Repetitive Behavior and Restricted Interests in Persons with Down Syndrome and Developmentally-Matched Typical Children: A Two-Year Longitudinal Sequential Design

    Science.gov (United States)

    Evans, David W.; Kleinpeter, F. Lee; Slane, Mylissa M.; Boomer, K. B.

    2014-01-01

    We examined the course of repetitive behavior and restricted interests (RBRI) in children with and without Down syndrome (DS) over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA) levels: “younger” 2–4 years; “older” 5–11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales) in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist) at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior. PMID:24710387

  1. Adaptive and maladaptive correlates of repetitive behavior and restricted interests in persons with down syndrome and developmentally-matched typical children: a two-year longitudinal sequential design.

    Directory of Open Access Journals (Sweden)

    David W Evans

    Full Text Available We examined the course of repetitive behavior and restricted interests (RBRI in children with and without Down syndrome (DS over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA levels: "younger" 2-4 years; "older" 5-11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior.

  2. Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2.

    Science.gov (United States)

    Hoffman, Ellen J; Turner, Katherine J; Fernandez, Joseph M; Cifuentes, Daniel; Ghosh, Marcus; Ijaz, Sundas; Jain, Roshan A; Kubo, Fumi; Bill, Brent R; Baier, Herwig; Granato, Michael; Barresi, Michael J F; Wilson, Stephen W; Rihel, Jason; State, Matthew W; Giraldez, Antonio J

    2016-02-17

    Autism spectrum disorders (ASDs) are a group of devastating neurodevelopmental syndromes that affect up to 1 in 68 children. Despite advances in the identification of ASD risk genes, the mechanisms underlying ASDs remain unknown. Homozygous loss-of-function mutations in Contactin Associated Protein-like 2 (CNTNAP2) are strongly linked to ASDs. Here we investigate the function of Cntnap2 and undertake pharmacological screens to identify phenotypic suppressors. We find that zebrafish cntnap2 mutants display GABAergic deficits, particularly in the forebrain, and sensitivity to drug-induced seizures. High-throughput behavioral profiling identifies nighttime hyperactivity in cntnap2 mutants, while pharmacological testing reveals dysregulation of GABAergic and glutamatergic systems. Finally, we find that estrogen receptor agonists elicit a behavioral fingerprint anti-correlative to that of cntnap2 mutants and show that the phytoestrogen biochanin A specifically reverses the mutant behavioral phenotype. These results identify estrogenic compounds as phenotypic suppressors and illuminate novel pharmacological pathways with relevance to autism.

  3. Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

    Science.gov (United States)

    Kozol, Robert A; Cukier, Holly N; Zou, Bing; Mayo, Vera; De Rubeis, Silvia; Cai, Guiqing; Griswold, Anthony J; Whitehead, Patrice L; Haines, Jonathan L; Gilbert, John R; Cuccaro, Michael L; Martin, Eden R; Baker, James D; Buxbaum, Joseph D; Pericak-Vance, Margaret A; Dallman, Julia E

    2015-07-15

    Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1-2% of children and adults, and is characterized by deficits in verbal and non-verbal communication, and social interactions, as well as the presence of repetitive behaviors and/or stereotyped interests. ASD is clinically and etiologically heterogeneous, with a strong genetic component. Here, we present functional data from syngap1 and shank3 zebrafish loss-of-function models of ASD. SYNGAP1, a synaptic Ras GTPase activating protein, and SHANK3, a synaptic scaffolding protein, were chosen because of mounting evidence that haploinsufficiency in these genes is highly penetrant for ASD and intellectual disability (ID). Orthologs of both SYNGAP1 and SHANK3 are duplicated in the zebrafish genome and we find that all four transcripts (syngap1a, syngap1b, shank3a and shank3b) are expressed at the earliest stages of nervous system development with pronounced expression in the larval brain. Consistent with early expression of these genes, knockdown of syngap1b or shank3a cause common embryonic phenotypes including delayed mid- and hindbrain development, disruptions in motor behaviors that manifest as unproductive swim attempts, and spontaneous, seizure-like behaviors. Our findings indicate that both syngap1b and shank3a play novel roles in morphogenesis resulting in common brain and behavioral phenotypes.

  4. Excitability and firing behavior of single slow motor axons transmitting natural repetitive firing of human motoneurons.

    Science.gov (United States)

    Kudina, Lydia P; Andreeva, Regina E

    2017-08-01

    Excitability of motor axons is critically important for realizing their main function, i.e., transmitting motoneuron firing to muscle fibers. The present study was designed to explore excitability recovery and firing behavior in single slow axons transmitting human motoneuron firing during voluntary muscle contractions. The abductor digiti minimi, flexor carpi ulnaris, and tibialis anterior were investigated during threshold stimulation of corresponding motor nerves. Motor unit (MU) firing index in response to testing volleys evoking M-responses was used as a physiological measure of axonal excitability and its changes throughout a target interspike interval (ISI) were explored. It was shown that axons displayed an early irresponsive period (within the first ~2-5 ms of a target ISI) that was followed by a responsive period (for the next 5-17 ms of the ISI), in which MUs fired axonal doublets, and a later irresponsive period. At the beginning of the responsive period, M-responses showed small latency delays. However, since at that ISI moment, MUs displayed excitability recovery with high firing index, slight latency changes may be considered as a functionally insignificant phenomenon. The duration of axonal doublet ISIs did not depend on motoneuron firing frequencies (range 4.3-14.6 imp/s). The question of whether or not traditionally described axonal recovery excitability cycle is realistic in natural motor control is discussed. In conclusion, the present approach, exploring, for the first time, excitability recovery in single slow axons during motoneuron natural activation, can provide further insight into axonal firing behavior in normal states and diseases.NEW & NOTEWORTHY Excitability of single slow axons was estimated by motor unit firing index in response to motor nerve stimulation, and its changes throughout a target interspike interval were explored during transmitting human motoneuron natural firing. It was found that axons exhibited early irresponsive

  5. Natal dispersal in a social landscape:Considering individual behavioral phenotypes and social environment in dispersal ecology

    Institute of Scientific and Technical Information of China (English)

    Tina W WEY; Orr SPIEGEL; Pierre-Olivier MONTIGLIO; Karen E MABRY

    2015-01-01

    Natal dispersal, the movement of an organism from its birthplace to the site of first reproduction, is fundamental to many ecological and evolutionary processes. Mechanistically, individual dispersal decisions can depend on both individual phe-notype and environmental cues. In particular, many established evolutionary theories of dispersal highlight the importance of the social environment. More recent research in behavioral ecology has focused on the importance of individual behavioral pheno-types. We reviewed the literature on individual behavioral phenotypes and dispersal and suggest that how individual behavioral phenotypes interact with the immediate social environment experienced by individuals in influencing dispersal is still poorly un-derstood, despite growing interest. We found that very few studies had examined the interaction of individual behavioral pheno-types and social factors, and behavioral phenotypes related to social tendencies were less commonly measured than were beha-vioral phenotypes related to exploration or response to risk. Further, and unsurprisingly, studies on social behavioral phenotypes and dispersal behaviors during the transience stage of dispersal were underrepresented compared to the departure or settlement stages. Future studies in this area should aim to: a) make explicit links between behavioral traits and their proposed effects on dispersal decisions throughout multiple stages of dispersal, b) integrate more continuous dispersal variables, and c) consider the effects of the spatial distribution and phenotypes of conspecifics (i.e., the social landscape) encountered by individual dispersers [Current Zoology 61 (3): 543–556, 2015].

  6. Effects of Repetitive Transcranial Magnetic Stimulation on Behavioral Recovery during Early Stage of Traumatic Brain Injury in Rats.

    Science.gov (United States)

    Yoon, Kyung Jae; Lee, Yong-Taek; Chung, Pil-Wook; Lee, Yun Kyung; Kim, Dae Yul; Chun, Min Ho

    2015-10-01

    Repetitive transcranial magnetic stimulation (rTMS) is a promising technique that modulates neural networks. However, there were few studies evaluating the effects of rTMS in traumatic brain injury (TBI). Herein, we assessed the effectiveness of rTMS on behavioral recovery and metabolic changes using brain magnetic resonance spectroscopy (MRS) in a rat model of TBI. We also evaluated the safety of rTMS by measuring brain swelling with brain magnetic resonance imaging (MRI). Twenty male Sprague-Dawley rats underwent lateral fluid percussion and were randomly assigned to the sham (n=10) or the rTMS (n=10) group. rTMS was applied on the fourth day after TBI and consisted of 10 daily sessions for 2 weeks with 10 Hz frequency (total pulses=3,000). Although the rTMS group showed an anti-apoptotic effect around the peri-lesional area, functional improvements were not significantly different between the two groups. Additionally, rTMS did not modulate brain metabolites in MRS, nor was there any change of brain lesion or edema after magnetic stimulation. These data suggest that rTMS did not have beneficial effects on motor recovery during early stages of TBI, although an anti-apoptosis was observed in the peri-lesional area.

  7. Restricted and repetitive behaviors in toddlers and preschoolers with autism spectrum disorders based on the Autism Diagnostic Observation Schedule (ADOS).

    Science.gov (United States)

    Kim, So Hyun; Lord, Catherine

    2010-08-01

    Restricted and repetitive behaviors (RRBs) observed during the Autism Diagnostic Observation Schedule [ADOS: Lord et al., 2000] were examined in a longitudinal data set of 455 toddlers and preschoolers (age 8-56 months) with clinical diagnosis of Autism Spectrum Disorders (ASD; autism, n=121 and pervasive developmental disorders-not otherwise specified (PDD-NOS), n=71), a nonspectrum disorder (NS; n=90), or typical development (TD; n=173). Even in the relatively brief semi-structured observations, GEE analyses of the severity and prevalence of RRBs differentiated children with ASD from those with NS and TD across all ages. RRB total scores on the ADOS were stable over time for children with ASD and NS; however, typically developing preschoolers showed lower RRB scores than typically developing toddlers. Nonverbal IQ (NVIQ) was more strongly related to the prevalence of RRBs in older children with PDD-NOS, NS, and TD than younger children under 2 years and those with autism. Item analyses revealed different relationships between individual items and NVIQ, age, diagnosis, and gender. These findings are discussed in terms of their implications for the etiology and treatment of RRBs as well as for the framework of ASD diagnostic criteria in future diagnostic systems.

  8. Investigation of the Self-Healing Behaviors of Microcapsules/Bitumen Composites by a Repetitive Direct Tension Test

    Directory of Open Access Journals (Sweden)

    Jun-Feng Su

    2016-07-01

    Full Text Available The aim of this work was to evaluate the self-healing behaviors of bitumen using microcapsules containing rejuvenator by a modified fracture healing–refracture method through a repetitive tension test. Microcapsules had mean size values of 10, 20 and 30 μm with a same core/shell ratio of 1/1. Various microcapsules/bitumen samples were fabricated with microcapsule contents of 1.0, 3.0 and 5.0 wt. %, respectively. Tension strength values of microcapsules/bitumen samples were measured by a reparative fracture-healing process under different temperatures. It was found that these samples had tensile strength values larger than the data of pure bitumen samples under the same conditions after the four tensile fracture-healing cycles. Fracture morphology investigation and mechanism analysis indicated that the self-healing process was a process consisting of microcapsules being broken, penetrated and diffused. Moreover, the crack healing of bitumen can be considered as a viscosity driven process. The self-healing ability partly repaired the damage of bitumen during service life by comparing the properties of virgin and rejuvenated bitumen.

  9. Myeloid dendritic cells frequencies are increased in children with autism spectrum disorder and associated with amygdala volume and repetitive behaviors.

    Science.gov (United States)

    Breece, Elizabeth; Paciotti, Brian; Nordahl, Christine Wu; Ozonoff, Sally; Van de Water, Judy A; Rogers, Sally J; Amaral, David; Ashwood, Paul

    2013-07-01

    The pathophysiology of autism spectrum disorder (ASD) is not yet known; however, studies suggest that dysfunction of the immune system affects many children with ASD. Increasing evidence points to dysfunction of the innate immune system including activation of microglia and perivascular macrophages, increases in inflammatory cytokines/chemokines in brain tissue and CSF, and abnormal peripheral monocyte cell function. Dendritic cells are major players in innate immunity and have important functions in the phagocytosis of pathogens or debris, antigen presentation, activation of naïve T cells, induction of tolerance and cytokine/chemokine production. In this study, we assessed circulating frequencies of myeloid dendritic cells (defined as Lin-1(-)BDCA1(+)CD11c(+) and Lin-1(-)BDCA3(+)CD123(-)) and plasmacytoid dendritic cells (Lin-1(-)BDCA2(+)CD123(+) or Lin-1(-)BDCA4(+) CD11c(-)) in 57 children with ASD, and 29 typically developing controls of the same age, all of who were enrolled as part of the Autism Phenome Project (APP). The frequencies of dendritic cells and associations with behavioral assessment and MRI measurements of amygdala volume were compared in the same participants. The frequencies of myeloid dendritic cells were significantly increased in children with ASD compared to typically developing controls (pfrequencies of myeloid dendritic cells were positively associated with abnormal right and left amygdala enlargement, severity of gastrointestinal symptoms and increased repetitive behaviors. The frequencies of plasmacytoid dendritic cells were also associated with amygdala volumes as well as developmental regression in children with ASD. Dendritic cells play key roles in modulating immune responses and differences in frequencies or functions of these cells may result in immune dysfunction in children with ASD. These data further implicate innate immune cells in the complex pathophysiology of ASD.

  10. Developing an Early Reading Intervention Aligned with the Down Syndrome Behavioral Phenotype

    Science.gov (United States)

    Lemons, Christopher J.; King, Seth A.; Davidson, Kimberly A.; Puranik, Cynthia S.; Al Otaiba, Stephanie; Fulmer, Deborah; Mrachko, Alicia A.; Partanen, Jane; Fidler, Deborah J.

    2017-01-01

    The aim of this project was to develop an early reading intervention for children with Down syndrome based on the related behavioral phenotype. The intervention targeted learning of letter-sound correspondences, reading of decodable and high frequency words, and phonological awareness. We evaluated the feasibility and potential efficacy of the…

  11. Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients.

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Kleefstra, T.; Egger, J.I.

    2010-01-01

    The 9q Subtelomeric Deletion Syndrome (9qSTDS) is clinically characterized by mental retardation, childhood hypotonia, and facial dysmorphisms. Haploinsufficiency of the EHMT1 gene has been demonstrated to be responsible for its core phenotype. In a significant number of patients behavioral abnormal

  12. Is Sensory Over-Responsivity Distinguishable from Childhood Behavior Problems? A Phenotypic and Genetic Analysis

    Science.gov (United States)

    Van Hulle, Carol A.; Schmidt, Nicole L.; Goldsmith, H. Hill

    2012-01-01

    Background: Although impaired sensory processing accompanies various clinical conditions, the question of its status as an independent disorder remains open. Our goal was to delineate the comorbidity (or lack thereof) between childhood psychopathology and sensory over-responsivity (SOR) in middle childhood using phenotypic and behavior-genetic…

  13. Effectiveness of Non-Pharmacological Interventions on Stereotyped and Repetitive Behaviors of Pre-school Children With Autism: A Systematic Review.

    Science.gov (United States)

    Zarafshan, Hadi; Salmanian, Maryam; Aghamohammadi, Soudeh; Mohammadi, Mohammad Reza; Mostafavi, Seyed-Ali

    2017-01-01

    The present study aimed to review the literature on non-pharmacological interventions used to treat stereotyped and repetitive behaviors by a systematic method. Two authors independently performed a search strategy on Medline/PubMed, Scopus and PsycINFO on English articles published up to April 23, 2014 with relevant search keywords. We also reviewed the bibliographies of retrieved articles and conference proceedings to obtain additional citations and references. We examined those articles that addressed non-pharmacological interventions on reducing stereotyped and repetitive behaviors in preschool children with autism. Four independent reviewers screened relevant articles for inclusion criteria and assessed the quality of eligible articles with CONSORT checklist. In our search, 664 relevant articles were found. After removing duplicates and screening based on title, abstract, and full text, 15 high-quality studies were finally included in data analyses. The included articles were published from 1987 to 2013. Three studies were designed as A-B, two as A-B-A, and reminders as A-B-A-B. The data and results of 3 clinical trials were synthesized; two of them were parallel randomized clinical trial and another one was designed as cross-over. Interventions were completely heterogeneous in case studies, including non-contingent auditory stimulation, response interruption and redirection, teaching the children to request assistance on difficult tasks, family-implemented treatment for behavioral inflexibility with treatment approach, vocal or motor response interruption and redirection, brushing, water mist treatment, exposure response prevention, tangible reinforcement or social reinforcement, and music. Interventions in clinical trials included touch therapy, kata techniques training program, and aerobic exercise. The results of our review indicate that different kinds of non-pharmacological interventions can be used to treat repetitive behaviors in children with autism

  14. The Impact of a Cognitive-Behavioral Therapy on Event-Related Potentials in Patients with Tic Disorders or Body-Focused Repetitive Behaviors

    Directory of Open Access Journals (Sweden)

    Simon eMorand-Beaulieu

    2016-05-01

    Full Text Available Context: Tic disorders (TD are characterized by the presence of non-voluntary contractions of functionally related groups of skeletal muscles in one or multiple body parts. Patients with body-focused repetitive behaviors (BFRB present frequent and repetitive behaviors, such as nail biting or hair pulling. TD and BFRB can be treated with a cognitive-behavioral therapy (CBT that regulates the excessive amount of sensorimotor activation and muscular tension. Our CBT, which is called the cognitive-psychophysiological therapy (CoPs, targets motor execution and inhibition, and it was reported to modify brain activity in TD. However, psychophysiological effects of therapy are still poorly understood in TD and BFRB patients. Our goals were to compare the event-related potentials (ERP of TD and BFRB patients to control participants, and to investigate the effects of the CoPs therapy on the P200, N200 and P300 components during a motor and non-motor oddball task.Method: ERP components were compared in 26 TD patients, 27 BFRB patients and 27 control participants. ERP were obtained from 63 EEG electrodes during two oddball tasks. In the non-motor task, participants had to count rare stimuli. In the motor task, participants had to respond with a left or right button press for rare and frequent stimuli, respectively. ERP measures were recorded before and after therapy in both patients groups.Results: CoPs therapy improved symptoms similarly in both clinical groups. Before therapy, TD and BFRB patients had lower P300 oddball effect during the non-motor task, in comparison with controls participants. An increase in the P300 oddball effect was observed post therapy. This increase was distributed over the whole cortex in BFRB patients, but localized in the parietal area in TD patients.Discussion: These results suggest a modification of neural processes following CoPs therapy in TD and BFRB patients. CoPs therapy seems to impact patients’ attentional processes

  15. Behavioral Analysis of Dopaminergic Activation in Zebrafish and Rats Reveals Similar Phenotypes.

    Science.gov (United States)

    Ek, Fredrik; Malo, Marcus; Åberg Andersson, Madelene; Wedding, Christoffer; Kronborg, Joel; Svensson, Peder; Waters, Susanna; Petersson, Per; Olsson, Roger

    2016-05-18

    Zebrafish is emerging as a complement to mammals in behavioral studies; however, there is a lack of comparative studies with rodents and humans to establish the zebrafish as a predictive translational model. Here we present a detailed phenotype evaluation of zebrafish larvae, measuring 300-3000 variables and analyzing them using multivariate analysis to identify the most important ones for further evaluations. The dopamine agonist apomorphine has previously been shown to have a complex U-shaped dose-response relationship in the variable distance traveled. In this study, we focused on breaking down distance traveled into more detailed behavioral phenotypes for both zebrafish and rats and identified in the multivariate analysis low and high dose phenotypes with characteristic behavioral features. Further analysis of single parameters also identified an increased activity at the lowest concentration indicative of a U-shaped dose-response. Apomorphine increased the distance of each swim movement (bout) at both high and low doses, but the underlying behavior of this increase is different; at high dose, both bout duration and frequency increased whereas bout max speed was higher at low dose. Larvae also displayed differences in place preference. The low dose phenotype spent more time in the center, indicative of an anxiolytic effect, while the high-dose phenotype had a wall preference. These dose-dependent effects corroborated findings in a parallel rat study and previous observations in humans. The translational value of pharmacological zebrafish studies was further evaluated by comparing the amino acid sequence of the dopamine receptors (D1-D4), between zebrafish, rats and humans. Humans and zebrafish share 100% of the amino acids in the binding site for D1 and D3 whereas D2 and D4 receptors share 85-95%. Molecular modeling of dopamine D2 and D4 receptors indicated that nonconserved amino acids have limited influence on important ligand-receptor interactions.

  16. Candidate Genes and the Behavioral Phenotype in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Prasad, Sarah E.; Howley, Sarah; Murphy, Kieran C.

    2008-01-01

    There is an overwhelming evidence that children and adults with 22q11.2 deletion syndrome (22q11.2DS) have a characteristic behavioral phenotype. In particular, there is a growing body of evidence that indicates an unequivocal association between 22q11.2DS and schizophrenia, especially in adulthood. Deletion of 22q11.2 is the third highest risk…

  17. Management of Chronic Tinnitus and Insomnia with Repetitive Transcranial Magnetic Stimulation and Cognitive Behavioral Therapy – a Combined Approach

    Directory of Open Access Journals (Sweden)

    Kneginja Richter

    2017-04-01

    Full Text Available It has been estimated that up to 80% of people will experience symptoms of tinnitus over the courses of their lives, with rates of comorbid sleeping problems ranging from 50 to 77%. Because of a potential connection between tinnitus and sleep disorders as well as high rates of comorbid psychiatric disorders, interdisciplinary approaches to treatment seem to be the most efficient option. In this study, we present the case of a 53-year-old male patient, who started to experience symptoms of tinnitus at the age of 49, most likely caused by work-related stress. Over the course of his illness, the patient developed comorbid insomnia. He consulted us for treatment of both conditions and we developed a treatment plan with ten sessions of repetitive transcranial magnetic stimulation (rTMS followed by 10 sessions of cognitive behavioral therapy (CBT. We used the Tinnitus Fragebogen (TF to assess the severity of the tinnitus, the Beck Depression Inventory (BDI-II for depressive symptoms, and the WHO Well-being Index (WHO-5 for subjective well-being. Improvements could be achieved with regard to both diagnoses and the patient went from severe (48 to clinically negligible (12 TF scores, from minimal (BDI-II score 10 to no (0 depressive symptoms, and from just above critical (WHO-5 percentile 52 to above average (84 well-being. The combination of technological and psychological approaches to treat tinnitus and insomnia thus proved successful in this case. One may therefore conclude that rTMS may be considered an effective first therapeutic step for tinnitus treatment prior to CBT. To our knowledge this is the first published case in which rTMS and CBT were combined for tinnitus therapy. The approach proved successful since it led to a considerable increase in well-being and everyday functioning. To gauge the effect on a more general level, large-scale studies are still needed to cancel out potential placebo effects. Likewise, the importance of the order of

  18. A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

    Science.gov (United States)

    Marcon, Gabriella; Di Fede, Giuseppe; Giaccone, Giorgio; Rossi, Giacomina; Giovagnoli, Anna Rita; Maccagnano, Elio; Tagliavini, Fabrizio

    2009-01-01

    Presenilin mutations are the main cause of familial Alzheimer's disease. So far, more than 160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified. Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. In PSEN2, T122P and M239V mutations presented with severe behavioral disturbances. We describe an Italian patient with a novel PSEN2 mutation (Y231C) who showed behavioral abnormalities and language impairment as presenting symptoms, with later involvement of other cognitive abilities, particularly of posterior functions.

  19. Potential translational targets revealed by linking mouse grooming behavioral phenotypes to gene expression using public databases.

    Science.gov (United States)

    Roth, Andrew; Kyzar, Evan J; Cachat, Jonathan; Stewart, Adam Michael; Green, Jeremy; Gaikwad, Siddharth; O'Leary, Timothy P; Tabakoff, Boris; Brown, Richard E; Kalueff, Allan V

    2013-01-10

    Rodent self-grooming is an important, evolutionarily conserved behavior, highly sensitive to pharmacological and genetic manipulations. Mice with aberrant grooming phenotypes are currently used to model various human disorders. Therefore, it is critical to understand the biology of grooming behavior, and to assess its translational validity to humans. The present in-silico study used publicly available gene expression and behavioral data obtained from several inbred mouse strains in the open-field, light-dark box, elevated plus- and elevated zero-maze tests. As grooming duration differed between strains, our analysis revealed several candidate genes with significant correlations between gene expression in the brain and grooming duration. The Allen Brain Atlas, STRING, GoMiner and Mouse Genome Informatics databases were used to functionally map and analyze these candidate mouse genes against their human orthologs, assessing the strain ranking of their expression and the regional distribution of expression in the mouse brain. This allowed us to identify an interconnected network of candidate genes (which have expression levels that correlate with grooming behavior), display altered patterns of expression in key brain areas related to grooming, and underlie important functions in the brain. Collectively, our results demonstrate the utility of large-scale, high-throughput data-mining and in-silico modeling for linking genomic and behavioral data, as well as their potential to identify novel neural targets for complex neurobehavioral phenotypes, including grooming.

  20. The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome).

    Science.gov (United States)

    Tartaglia, Nicole; Cordeiro, Lisa; Howell, Susan; Wilson, Rebecca; Janusz, Jennifer

    2010-12-01

    The behavioral phenotype of 47,XXY (Klinefelter syndrome) includes increased risks for developmental delays, language-based learning disabilities, executive dysfunction/ADHD, and socialemotional difficulties. However there is significant variability between individuals with 47,XXY, and many children and adolescents have minimal or no behavioral features while others have quite significant involvement. This paper describes behavioral features in a cohort of 57 children and adolescents with 47,XXY, including results on standardized measures of behavior (BASC-2), attention (Conner's Rating Scales), and social skills (Social Responsiveness Scale). A subset was directly assessed for autism spectrum disorders using the ADOS and ADIR. We discuss our results within the context of previous literature, including implications for genetic counseling, recommendations for care, and areas for future research.

  1. Validity and reliability of the Behavior Problems Inventory, the Aberrant Behavior Checklist, and the Repetitive Behavior Scale-Revised among infants and toddlers at risk for intellectual or developmental disabilities: a multi-method assessment approach.

    Science.gov (United States)

    Rojahn, Johannes; Schroeder, Stephen R; Mayo-Ortega, Liliana; Oyama-Ganiko, Rosao; LeBlanc, Judith; Marquis, Janet; Berke, Elizabeth

    2013-05-01

    Reliable and valid assessment of aberrant behaviors is essential in empirically verifying prevention and intervention for individuals with intellectual or developmental disabilities (IDD). Few instruments exist which assess behavior problems in infants. The current longitudinal study examined the performance of three behavior-rating scales for individuals with IDD that have been proven psychometrically sound in older populations: the Aberrant Behavior Checklist (ABC), the Behavior Problems Inventory (BPI-01), and the Repetitive Behavior Scale - Revised (RBS-R). Data were analyzed for 180 between six and 36 months old children at risk for IDD. Internal consistency (Cronbach's α) across the subscales of the three instruments was variable. Test-retest reliability of the three BPI-01 subscales ranged from .68 to .77 for frequency ratings and from .65 to .80 for severity ratings (intraclass correlation coefficients). Using a multitrait-multimethod matrix approach high levels of convergent and discriminant validity across the three instruments was found. As anticipated, there was considerable overlap in the information produced by the three instruments; however, each behavior-rating instrument also contributed unique information. Our findings support using all three scales in conjunction if possible.

  2. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.

    Science.gov (United States)

    Stalker, Heather J; Gray, B A; Bent-Williams, A; Zori, R T

    2006-09-15

    Pallister-Killian syndrome (PKS) is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome 12p. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on an individual with classical features of PKS with development significantly better than that reported in the literature. Developmental and behavioral testing in this individual alters the range of developmental expectation in PKS, and highlights the need for consideration of chromosomal analysis in individuals with normal or near-normal intelligence if other physical phenotypic features of PKS are present.

  3. A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes.

    Directory of Open Access Journals (Sweden)

    Laurent P Bogdanik

    Full Text Available Glycine is the major inhibitory neurotransmitter in the spinal cord and some brain regions. The presynaptic glycine transporter, GlyT2, is required for sustained glycinergic transmission through presynaptic reuptake and recycling of glycine. Mutations in SLC6A5, encoding GlyT2, cause hereditary hyperekplexia in humans, and similar phenotypes in knock-out mice, and variants are associated with schizophrenia. We identified a spontaneous mutation in mouse Slc6a5, caused by a MusD retrotransposon insertion. The GlyT2 protein is undetectable in homozygous mutants, indicating a null allele. Homozygous mutant mice are normal at birth, but develop handling-induced spasms at five days of age, and only survive for two weeks, but allow the study of early activity-regulated developmental processes. At the neuromuscular junction, synapse elimination and the switch from embryonic to adult acetylcholine receptor subunits are hastened, consistent with a presumed increase in motor neuron activity, and transcription of acetylcholine receptors is elevated. Heterozygous mice, which show no reduction in lifespan but nonetheless have reduced levels of GlyT2, have a normal thermal sensitivity with the hot-plate test, but differences in repetitive grooming and decreased sleep time with home-cage monitoring. Open-field and elevated plus-maze tests did not detect anxiety-like behaviors; however, the latter showed a hyperactivity phenotype. Importantly, grooming and hyperactivity are observed in mouse schizophrenia models. Thus, mutations in Slc6a5 show changes in neuromuscular junction development as homozygotes, and behavioral phenotypes as heterozygotes, indicating their usefulness for studies related to glycinergic dysfunction.

  4. Dietary choline deprivation impairs rat brain mitochondrial function and behavioral phenotype.

    Science.gov (United States)

    Pacelli, Consiglia; Coluccia, Addolorata; Grattagliano, Ignazio; Cocco, Tiziana; Petrosillo, Giuseppe; Paradies, Giuseppe; De Nitto, Emanuele; Massaro, Antonio; Persichella, Michele; Borracci, Pietro; Portincasa, Piero; Carratù, Maria Rosaria

    2010-06-01

    Dietary choline deprivation (CD) is associated with behavioral changes, but mechanisms underlying these detrimental effects are not well characterized. For instance, no literature data are available concerning the CD effects on brain mitochondrial function related to impairment in cognition. Therefore, we investigated brain mitochondrial function and redox status in male Wistar rats fed a CD diet for 28 d. Moreover, the CD behavioral phenotype was characterized. Compared with rats fed a control diet (CTRL), CD rats showed lower NAD-dependent mitochondrial state III and state IV respiration, 40% lower complex I activity, and significantly higher reactive oxygen species production. Total glutathione was oxidatively consumed more in CD than in CTRL rats and the rate of protein oxidation was 40% higher in CD than in CTRL rats, reflecting an oxidative stress condition. The mitochondrial concentrations of cardiolipin, a phospholipid required for optimal activity of complex I, was 20% lower in CD rats than in CTRL rats. Compared with CTRL rats, the behavioral phenotype of CD rats was characterized by impairment in motor coordination and motor learning assessed with the rotarod/accelerod test. Furthermore, compared with CTRL rats, CD rats were less capable of learning the active avoidance task and the number of attempts they made to avoid foot shock was fewer. The results suggest that CD-induced dysfunction in brain mitochondria may be responsible for impairment in cognition and underline that, similar to the liver, the brain also needs an adequate choline supply for its normal functioning.

  5. Is it all the X: familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

    Science.gov (United States)

    Samango-Sprouse, Carole A; Stapleton, Emily; Sadeghin, Teresa; Gropman, Andrea L

    2013-02-15

    The behavioral phenotype of children with XXY has not been extensively studied until recently and this research has been confounded by insufficient study populations and ascertainment biases. The aim of the study was to expand the behavioral aspect of the XXY phenotype as well as investigate the role of existing familial learning disabilities (FLD) on behavioral problems. Behavioral phenotype of XXY includes social anxiety, ADHD, social communication, and atypical peer interactions. The Child Behavior Checklist (CBCL), Social Responsiveness Scale (SRS), and Gilliam Autism Rating Scale (GARS) were completed by the parents of 54 boys with XXY who had not received hormonal replacement prior to participation. Our findings suggest fewer behavioral deficits and lower severity in the general 47,XXY population than previously published and found significant differences between the groups with a positive FLD on the behavioral assessments. Findings demonstrate that boys with FLD exhibit an increased incidence and severity of behavioral problems. Our study expands on the findings of Samango-Sprouse et al. [Samango-Sprouse et al. (2012b) J Intellect Disabil Res] and the significant influence that FLD has on not only neurodevelopment, but also behavioral deficits. Our study suggests that part of the XXY phenotypic profile may be modulated by FLD. Further study is underway to examine the interaction between the many salient factors effecting behavioral and neurodevelopmental progression in XXY and variant forms. © 2013 Wiley Periodicals, Inc.

  6. Insomnia Phenotypes Based on Objective Sleep Duration in Adolescents: Depression Risk and Differential Behavioral Profiles

    Directory of Open Access Journals (Sweden)

    Julio Fernandez-Mendoza

    2016-12-01

    Full Text Available Based on previous studies on the role of objective sleep duration in predicting morbidity in individuals with insomnia, we examined the role of objective sleep duration in differentiating behavioral profiles in adolescents with insomnia symptoms. Adolescents from the Penn State Child Cohort (n = 397, ages 12–23, 54.7% male underwent a nine-hour polysomnography (PSG, clinical history, physical examination and psychometric testing, including the Child or Adult Behavior Checklist and Pediatric Behavior Scale. Insomnia symptoms were defined as a self-report of difficulty falling and/or staying asleep and objective “short” sleep duration as a PSG total sleep time ≤7 h. A significant interaction showed that objective short sleep duration modified the association of insomnia symptoms with internalizing problems. Consistently, adolescents with insomnia symptoms and short sleep duration were characterized by depression, rumination, mood dysregulation and social isolation, while adolescents with insomnia symptoms and normal sleep duration were characterized by rule-breaking and aggressive behaviors and, to a lesser extent, rumination. These findings indicate that objective sleep duration is useful in differentiating behavioral profiles among adolescents with insomnia symptoms. The insomnia with objective short sleep duration phenotype is associated with an increased risk of depression earlier in the lifespan than previously believed.

  7. The family context of autism spectrum disorders: influence on the behavioral phenotype and quality of life.

    Science.gov (United States)

    Smith, Leann E; Greenberg, Jan S; Mailick, Marsha R

    2014-01-01

    This article reports the findings from a longitudinal program of research examining the bidirectional influences of the family environment on the behavioral phenotype of autism, and describes a newly developed family psychoeducation program, titled Transitioning Together, designed to reduce family stress, address behavior problems, and improve the overall quality of life of adolescents with autism and their families. A case study is presented that illustrates how Transitioning Together helps reduce family stress and improve the overall quality of the family environment. The article concludes with a discussion of directions for future research on best practices in working with families of children, adolescents, and adults with autism. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Postanesthetic effects of isoflurane on behavioral phenotypes of adult male C57BL/6J mice.

    Directory of Open Access Journals (Sweden)

    Kumiko Yonezaki

    Full Text Available Isoflurane was previously the major clinical anesthetic agent but is now mainly used for veterinary anesthesia. Studies have reported widespread sites of action of isoflurane, suggesting a wide array of side effects besides sedation. In the present study, we phenotyped isoflurane-treated mice to investigate the postanesthetic behavioral effects of isoflurane. We applied comprehensive behavioral test batteries comprising sensory test battery, motor test battery, anxiety test battery, depression test battery, sociability test battery, attention test battery, and learning test battery, which were started 7 days after anesthesia with 1.8% isoflurane. In addition to the control group, we included a yoked control group that was exposed to the same stress of handling as the isoflurane-treated animals before being anesthetized. Our comprehensive behavioral test batteries revealed impaired latent inhibition in the isoflurane-treated group, but the concentration of residual isoflurane in the brain was presumably negligible. The yoked control group and isoflurane-treated group exhibited higher anxiety in the elevated plus-maze test and impaired learning function in the cued fear conditioning test. No influences were observed in sensory functions, motor functions, antidepressant behaviors, and social behaviors. A number of papers have reported an effect of isoflurane on animal behaviors, but no systematic investigation has been performed. To the best of our knowledge, this study is the first to systematically investigate the general health, neurological reflexes, sensory functions, motor functions, and higher behavioral functions of mice exposed to isoflurane as adults. Our results suggest that the postanesthetic effect of isoflurane causes attention deficit in mice. Therefore, isoflurane must be used with great care in the clinical setting and veterinary anesthesia.

  9. Superoxide dismutase overexpression protects against glucocorticoid-induced depressive-like behavioral phenotypes in mice.

    Science.gov (United States)

    Uchihara, Yuki; Tanaka, Ken-ichiro; Asano, Teita; Tamura, Fumiya; Mizushima, Tohru

    2016-01-22

    In the stress response, activation of the hypothalamic-pituitary-adrenal axis, and particularly the release of glucocorticoids, plays a critical role. However, dysregulation of this system and sustained high plasma levels of glucocorticoids can result in depression. Recent studies have suggested the involvement of reactive oxygen species (ROS), such as superoxide anion, in depression. However, direct evidence for a role of ROS in the pathogenesis of this disorder is lacking. In this study, using transgenic mice expressing human Cu/Zn-superoxide dismutase (SOD1), an enzyme that catalyzes the dismutation of superoxide anions, we examined the effect of SOD1 overexpression on depressive-like behavioral phenotypes in mice. Depressive-like behaviors were induced by daily subcutaneous administration of the glucocorticoid corticosterone for 4 weeks, and was monitored with the social interaction test, the sucrose preference test and the forced swim test. These tests revealed that transgenic mice overexpressing SOD1 are more resistant to glucocorticoid-induced depressive-like behavioral disorders than wild-type animals. Furthermore, compared with wild-type mice, transgenic mice showed a reduction in the number of 8-hydroxy-2'-deoxyguanosine (a marker of oxidative stress)-positive cells in the hippocampal CA3 region following corticosterone administration. These results suggest that overexpression of SOD1 protects mice against glucocorticoid-induced depressive-like behaviors by decreasing cellular ROS levels.

  10. Behavioral phenotypes of genetic syndromes with intellectual disability: comparison of adaptive profiles.

    Science.gov (United States)

    Di Nuovo, Santo; Buono, Serafino

    2011-10-30

    The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, and Fragile-X syndrome (fully mutated), taking into account the relation with chronological age and the overall IQ level. The research was carried out using the Vineland Adaptive Behavior Scale (beside the Wechsler Intelligence scales to obtain IQ) with a sample of 181 persons (107 males and 74 females) showing genetic syndromes and mental retardation. Syndrome-based groups were matched for chronological age and mental age (excluding the Angelman group, presenting with severe mental retardation). Similarities and differences in the adaptive profiles are described, relating them to IQs and maladaptive behaviors. The results might be useful in obtaining a global index of adjustment for the assessment of intellectual disability level as well as for educational guidance and rehabilitative plans. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  11. Repetitive concussive traumatic brain injury interacts with post-injury foot shock stress to worsen social and depression-like behavior in mice.

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    Kristen C Klemenhagen

    Full Text Available The debilitating effects of repetitive concussive traumatic brain injury (rcTBI have been increasingly recognized in both military and civilian populations. rcTBI may result in significant neurological, cognitive, and affective sequelae, and is often followed by physical and/or psychological post-injury stressors that may exacerbate the effects of the injury and prolong the recovery period for injured patients. However, the consequences of post-injury stressors and their subsequent effects on social and emotional behavior in the context of rcTBI have been relatively little studied in animal models. Here, we use a mouse model of rcTBI with two closed-skull blunt impacts 24 hours apart and social and emotional behavior testing to examine the consequences of a stressor (foot shock fear conditioning following brain injury (rcTBI. rcTBI alone did not affect cued or contextual fear conditioning or extinction compared to uninjured sham animals. In the sucrose preference test, rcTBI animals had decreased preference for sucrose, an anhedonia-like behavior, regardless of whether they experienced foot shock stress or were non-shocked controls. However, rcTBI and post-injury foot shock stress had synergistic effects in tests of social recognition and depression-like behavior. In the social recognition test, animals with both injury and shock were more impaired than either non-shocked injured mice or shocked but uninjured mice. In the tail suspension test, injured mice had increased depression-like behavior compared with uninjured mice, and shock stress worsened the depression-like behavior only in the injured mice with no effect in the uninjured mice. These results provide a model of subtle emotional behavioral deficits after combined concussive brain injury and stress, and may provide a platform for testing treatment and prevention strategies for social behavior deficits and mood disorders that are tailored to patients with traumatic brain injury.

  12. Conservation in Mammals of Genes Associated with Aggression-Related Behavioral Phenotypes in Honey Bees.

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    Hui Liu

    2016-06-01

    Full Text Available The emerging field of sociogenomics explores the relations between social behavior and genome structure and function. An important question is the extent to which associations between social behavior and gene expression are conserved among the Metazoa. Prior experimental work in an invertebrate model of social behavior, the honey bee, revealed distinct brain gene expression patterns in African and European honey bees, and within European honey bees with different behavioral phenotypes. The present work is a computational study of these previous findings in which we analyze, by orthology determination, the extent to which genes that are socially regulated in honey bees are conserved across the Metazoa. We found that the differentially expressed gene sets associated with alarm pheromone response, the difference between old and young bees, and the colony influence on soldier bees, are enriched in widely conserved genes, indicating that these differences have genomic bases shared with many other metazoans. By contrast, the sets of differentially expressed genes associated with the differences between African and European forager and guard bees are depleted in widely conserved genes, indicating that the genomic basis for this social behavior is relatively specific to honey bees. For the alarm pheromone response gene set, we found a particularly high degree of conservation with mammals, even though the alarm pheromone itself is bee-specific. Gene Ontology identification of human orthologs to the strongly conserved honey bee genes associated with the alarm pheromone response shows overrepresentation of protein metabolism, regulation of protein complex formation, and protein folding, perhaps associated with remodeling of critical neural circuits in response to alarm pheromone. We hypothesize that such remodeling may be an adaptation of social animals to process and respond appropriately to the complex patterns of conspecific communication essential for

  13. Mice lacking TrkB in parvalbumin-positive cells exhibit sexually dimorphic behavioral phenotypes.

    Science.gov (United States)

    Lucas, Elizabeth K; Jegarl, Anita; Clem, Roger L

    2014-11-01

    Activity-dependent brain-derived neurotrophic factor (BDNF) signaling through receptor tyrosine kinase B (TrkB) is required for cued fear memory consolidation and extinction. Although BDNF is primarily secreted from glutamatergic neurons, TrkB is expressed by other genetically defined cells whose contributions to the behavioral effects of BDNF remain poorly understood. Parvalbumin (PV)-positive interneurons, which are highly enriched in TrkB, are emerging as key regulators of fear memory expression. We therefore hypothesized that activity-dependent BDNF signaling in PV-interneurons may modulate emotional learning. To test this hypothesis, we utilized the LoxP/Cre system for conditional deletion of TrkB in PV-positive cells to examine the impact of cell-autonomous BDNF signaling on Pavlovian fear conditioning and extinction. However, behavioral abnormalities indicative of vestibular dysfunction precluded the use of homozygous conditional knockouts in tests of higher cognitive functioning. While vestibular dysfunction was apparent in both sexes, female conditional knockouts exhibited an exacerbated phenotype, including extreme motor hyperactivity and circling behavior, compared to their male littermates. Heterozygous conditional knockouts were spared of vestibular dysfunction. While fear memory consolidation was unaffected in heterozygotes of both sexes, males exhibited impaired extinction consolidation compared to their littermate controls. Our findings complement evidence from human and rodent studies suggesting that BDNF signaling promotes consolidation of extinction and point to PV-positive neurons as a discrete population that mediates these effects in a sex-specific manner.

  14. Automated Behavioral Phenotyping Reveals Presymptomatic Alterations in a SCA3 Genetrap Mouse Model

    Institute of Scientific and Technical Information of China (English)

    Jeannette Hübener; Nicolas Casadei; Peter Teismann; Mathias W. Seeliger; Maria Bj(o)rkqvist; Stephan von H(o)rsten; Olaf Riess; Huu Phuc Nguyen

    2012-01-01

    Characterization of disease models of neurodegenerative disorders requires a systematic and comprehensive phenotyping in a highly standardized manner,Therefore,automated high-resolution behavior test systems such as the homecage based LabMaster system are of particular interest.We demonstrate the power of the automated LabMaster system by discovering previously unrecognized features of a recently characterized atxn3 mutant mouse model.This model provided neurological symptoms including gait ataxia,tremor,weight loss and premature death at the age of t2 months usually detectable just 2 weeks before the mice died.Moreover,using the LabMaster system we were able to detect hypoactivity in presymptomatic mutant mice in the dark as well as light phase.Additionally,we analyzed inflammation,immunological and hematological parameters,which indicated a reduced immune defense in phenotypic mice.Here we demonstrate thai a detailed characterization even of organ systems that are usually not affected in SCA3 is important for further studies of pathogenesis and required for the preclinical therapeutic studies.

  15. Genomic imprinting on the X chromosome: implications for brain and behavioral phenotypes.

    Science.gov (United States)

    Davies, William

    2010-09-01

    Imprinted genes, in contrast to most mammalian genes, are monoallelically expressed in a parent-of-origin dependent manner. The idiosyncratic expression profile associated with imprinted genes arises from the differential epigenetic marking of the alleles in the paternal and maternal germlines. Although small in number, imprinted genes can profoundly influence key developmental and physiological processes, including those in the brain; work in animal models and in humans has shown that such genes can affect behavioral traits and cognition and may confer vulnerability to common mental illnesses. As a consequence of how the X chromosome is inherited, X-linked imprinting may elicit or indeed attenuate sexually dimorphic phenotypes. Thus, studying X-linked imprinting is likely to provide important general information about the evolutionary and mechanistic underpinnings of imprinting, as well as the molecular processes underlying sex-specific neurobiology and sex-biased vulnerability to psychiatric disorders.

  16. Sensitive periods in epigenetics: bringing us closer to complex behavioral phenotypes.

    Science.gov (United States)

    Nagy, Corina; Turecki, Gustavo

    2012-08-01

    Genetic studies have attempted to elucidate causal mechanisms for the development of complex disease, but genome-wide associations have been largely unsuccessful in establishing these links. As an alternative link between genes and disease, recent efforts have focused on mechanisms that alter the function of genes without altering the underlying DNA sequence. Known as epigenetic mechanisms, these include DNA methylation, chromatin conformational changes through histone modifications, ncRNAs and, most recently, 5-hydroxymethylcytosine. Although DNA methylation is involved in normal development, aging and gene regulation, altered methylation patterns have been associated with disease. It is generally believed that early life constitutes a period during which there is increased sensitivity to the regulatory effects of epigenetic mechanisms. The purpose of this review is to outline the contribution of epigenetic mechanisms to genomic function, particularly in the development of complex behavioral phenotypes, focusing on the sensitive periods.

  17. Sensitive Periods in Epigenetics: bringing us closer to complex behavioral phenotypes

    Science.gov (United States)

    Nagy, Corina; Turecki, Gustavo

    2017-01-01

    Genetic studies have attempted to elucidate causal mechanisms for the development of complex disease but genome-wide associations have been largely unsuccessful in establishing these links. As an alternative link between genes and disease, recent efforts have focused on mechanisms that alter the function of genes without altering the underlying DNA sequence. Known as epigenetic mechanisms, these include: DNA methylation, chromatin conformational changes through histone modifications, non-coding RNAs, and most recently, 5-hydroxymethylcytosine. Though DNA methylation is involved in normal development, aging and gene regulation, altered methylation patterns have been associated with disease. It is generally believed that early life constitutes a period during which there is increased sensitivity to the regulatory effects of epigenetic mechanisms. The purpose of this review is to outline the contribution of epigenetic mechanisms to genomic function, particularly in the development of complex behavioral phenotypes, focusing on the sensitive periods. PMID:22920183

  18. The perivascular phenotype and behaviors of dedifferentiated cells derived from human mature adipocytes.

    Science.gov (United States)

    Song, Ning; Kou, Liang; Lu, Xiao-Wen; Sugawara, Atsunori; Shimizu, Yutaka; Wu, Min-Ke; Du, Li; Wang, Hang; Sato, Soh; Shen, Jie-Fei

    2015-02-13

    Derived from mature adipocytes, dedifferentiated fat (DFAT) cells represent a special group of multipotent cells. However, their phenotype and cellular nature remain unclear. Our study found that human DFAT cells adopted perivascular characteristics and behaviors. Flow cytometry and immunofluorescent staining revealed that human DFAT cells positively expressed markers highly related to perivascular cell lineages, such as CD140b, NG2 and desmin, but were negative for common endothelial markers, including CD31, CD34, and CD309. Furthermore, DFAT cells displayed vascular network formation ability in Matrigel, and they noticeably promoted and stabilized the vessel structures formed by human umbilical vascular endothelial cells (HUVECs) in vitro. These results provide novel evidence on the pericyte nature of human DFAT cells, further supporting the recent model for the perivascular origin of adult stem cells, in which tissue-specific progenitor cells in mesenchymal tissues associate with blood vessels, exhibiting perivascular characteristics and functions.

  19. Repetition suppression and repetition priming are processing outcomes.

    Science.gov (United States)

    Wig, Gagan S

    2012-01-01

    Abstract There is considerable evidence that repetition suppression (RS) is a cortical signature of previous exposure to the environment. In many instances RS in specific brain regions is accompanied by improvements in specific behavioral measures; both observations are outcomes of repeated processing. In understanding the mechanism by which brain changes give rise to behavioral changes, it is important to consider what aspect of the environment a given brain area or set of areas processes, and how this might be expressed behaviorally.

  20. A Phenotypic Structure and Neural Correlates of Compulsive Behaviors in Adolescents

    Science.gov (United States)

    Montigny, Chantale; Castellanos-Ryan, Natalie; Whelan, Robert; Banaschewski, Tobias; Barker, Gareth J.; Büchel, Christian; Gallinat, Jürgen; Flor, Herta; Mann, Karl; Paillère-Martinot, Marie-Laure; Nees, Frauke; Lathrop, Mark; Loth, Eva; Paus, Tomas; Pausova, Zdenka; Rietschel, Marcella; Schumann, Gunter; Smolka, Michael N.; Struve, Maren; Robbins, Trevor W.; Garavan, Hugh; Conrod, Patricia J.

    2013-01-01

    Background A compulsivity spectrum has been hypothesized to exist across Obsessive-Compulsive disorder (OCD), Eating Disorders (ED), substance abuse (SA) and binge-drinking (BD). The objective was to examine the validity of this compulsivity spectrum, and differentiate it from an externalizing behaviors dimension, but also to look at hypothesized personality and neural correlates. Method A community-sample of adolescents (N=1938; mean age 14.5 years), and their parents were recruited via high-schools in 8 European study sites. Data on adolescents’ psychiatric symptoms, DSM diagnoses (DAWBA) and substance use behaviors (AUDIT and ESPAD) were collected through adolescent- and parent-reported questionnaires and interviews. The phenotypic structure of compulsive behaviors was then tested using structural equation modeling. The model was validated using personality variables (NEO-FFI and TCI), and Voxel-Based Morphometry (VBM) analysis. Results Compulsivity symptoms best fit a higher-order two factor model, with ED and OCD loading onto a compulsivity factor, and BD and SA loading onto an externalizing factor, composed also of ADHD and conduct disorder symptoms. The compulsivity construct correlated with neuroticism (r=0.638; p≤0.001), conscientiousness (r=0.171; p≤0.001), and brain gray matter volume in left and right orbitofrontal cortex, right ventral striatum and right dorsolateral prefrontal cortex. The externalizing factor correlated with extraversion (r=0.201; p≤0.001), novelty-seeking (r=0.451; p≤0.001), and negatively with gray matter volume in the left inferior and middle frontal gyri. Conclusions Results suggest that a compulsivity spectrum exists in an adolescent, preclinical sample and accounts for variance in both OCD and ED, but not substance-related behaviors, and can be differentiated from an externalizing spectrum. PMID:24244633

  1. A phenotypic structure and neural correlates of compulsive behaviors in adolescents.

    Directory of Open Access Journals (Sweden)

    Chantale Montigny

    Full Text Available A compulsivity spectrum has been hypothesized to exist across Obsessive-Compulsive disorder (OCD, Eating Disorders (ED, substance abuse (SA and binge-drinking (BD. The objective was to examine the validity of this compulsivity spectrum, and differentiate it from an externalizing behaviors dimension, but also to look at hypothesized personality and neural correlates.A community-sample of adolescents (N=1938; mean age 14.5 years, and their parents were recruited via high-schools in 8 European study sites. Data on adolescents' psychiatric symptoms, DSM diagnoses (DAWBA and substance use behaviors (AUDIT and ESPAD were collected through adolescent- and parent-reported questionnaires and interviews. The phenotypic structure of compulsive behaviors was then tested using structural equation modeling. The model was validated using personality variables (NEO-FFI and TCI, and Voxel-Based Morphometry (VBM analysis.Compulsivity symptoms best fit a higher-order two factor model, with ED and OCD loading onto a compulsivity factor, and BD and SA loading onto an externalizing factor, composed also of ADHD and conduct disorder symptoms. The compulsivity construct correlated with neuroticism (r=0.638; p ≤ 0.001, conscientiousness (r=0.171; p ≤ 0.001, and brain gray matter volume in left and right orbitofrontal cortex, right ventral striatum and right dorsolateral prefrontal cortex. The externalizing factor correlated with extraversion (r=0.201; p ≤ 0.001, novelty-seeking (r=0.451; p ≤ 0.001, and negatively with gray matter volume in the left inferior and middle frontal gyri.Results suggest that a compulsivity spectrum exists in an adolescent, preclinical sample and accounts for variance in both OCD and ED, but not substance-related behaviors, and can be differentiated from an externalizing spectrum.

  2. Simultaneous Investigation of the Effect of Advanced Thermomechanical Treatment and Repetitive Cyclic Voltammetry on the Electrochemical Behavior of AISI 430 Ferritic Stainless Steel

    Science.gov (United States)

    Vafaeian, Saeed; Fattah-alhosseini, Arash; Keshavarz, Mohsen K.; Mazaheri, Yousef

    2017-01-01

    In this study, it was revealed that the electrochemical behavior of AISI 430 ferritic stainless steel can be modified and improved to a large extent by the application of repetitive cyclic voltammetry in the anodic polarization branch of the alloy. The efficiency of this method was evaluated on the basis of the alloy grain size which is of great importance in corrosion studies. In fact, a coarse grain structure versus a fine grain structure was the subject of the used surface treatment method. Coarsening and refining of the grain size were conducted through a heat treatment and an advanced thermomechanical process. On the basis of cyclic voltammetry tests and also the electrochemical tests performed after that, it was shown that cyclic voltammetry had a significant improving effect on the passive behavior of both fine- and coarse-grained samples. Moreover, superior behavior of fine-grained sample in comparison with coarse-grained one was distinguished by its smaller cyclic voltammogram loops, more noble free potentials, larger capacitive arcs in the Nyquist plots, and less charge carrier densities within the passive film.

  3. Simultaneous Investigation of the Effect of Advanced Thermomechanical Treatment and Repetitive Cyclic Voltammetry on the Electrochemical Behavior of AISI 430 Ferritic Stainless Steel

    Science.gov (United States)

    Vafaeian, Saeed; Fattah-alhosseini, Arash; Keshavarz, Mohsen K.; Mazaheri, Yousef

    2017-02-01

    In this study, it was revealed that the electrochemical behavior of AISI 430 ferritic stainless steel can be modified and improved to a large extent by the application of repetitive cyclic voltammetry in the anodic polarization branch of the alloy. The efficiency of this method was evaluated on the basis of the alloy grain size which is of great importance in corrosion studies. In fact, a coarse grain structure versus a fine grain structure was the subject of the used surface treatment method. Coarsening and refining of the grain size were conducted through a heat treatment and an advanced thermomechanical process. On the basis of cyclic voltammetry tests and also the electrochemical tests performed after that, it was shown that cyclic voltammetry had a significant improving effect on the passive behavior of both fine- and coarse-grained samples. Moreover, superior behavior of fine-grained sample in comparison with coarse-grained one was distinguished by its smaller cyclic voltammogram loops, more noble free potentials, larger capacitive arcs in the Nyquist plots, and less charge carrier densities within the passive film.

  4. Repetitive transcranial magnetic stimulation (rTMS) improves behavioral and biochemical deficits in levodopa-induced dyskinetic rats model.

    Science.gov (United States)

    Ba, Maowen; Kong, Min; Guan, Lina; Yi, Maoli; Zhang, Hongli

    2016-09-13

    Fluctuations of dopamine levels and upregulations of NR2B tyrosine phosphorylation in the striatum have been connected with levodopa (L-dopa)-induced dyskinesia (LID) in Parkinson's disease (PD). Repetitive transcranial magnetic stimulation (rTMS) is one of the noninvasive and potential method treating dyskinesia. Yet, the effect of rTMS on the above key pathological events remains unclear. In this study, we gave L-dopa treatment intraperitoneally for 22 days to 6-hydroxydopamine-lesioned PD rats to prepare LID rats model, and subsequently applied rTMS daily for 3 weeks to LID rats model. The effect of rTMS on abnormal involuntary movements (AIMs) was assessed. After ending the experiments, we further determined tyrosine hydroxylase (TH)-positive dopaminergic neurons number by immunohistochemistry, dopamine levels by HPLC, glial cell line-derived neurotrophic factor (GDNF) levels by ELISA, NR2B tyrosine phosphorylation and interactions of NR2B with Fyn by immunoblotting and immunoprecipitation. The results demonstrated that rTMS obviously attenuated AIMs scores, reduced the loss of nigral dopaminergic neurons and the fluctuations of striatal dopamine levels. Meanwhile, rTMS significantly increased the expression of GDNF, which couldrestore the damage of dopaminergic neurons. Additionally, rTMS also reduced the levels of the NR2B tyrosine phosphorylation andits interactions with Fyn in the lesioned striatum of LID rats model. Thus, these data indicate that rTMS can provide benefit for the therapy of LID by improving the key biochemical deficits related to dyskinesia.

  5. Increases in frontostriatal connectivity are associated with response to dorsomedial repetitive transcranial magnetic stimulation in refractory binge/purge behaviors

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    Katharine Dunlop

    2015-01-01

    Conclusions: Enhanced frontostriatal connectivity was associated with responders to dmPFC-rTMS for binge/purge behavior. rTMS caused paradoxical suppression of frontostriatal connectivity in nonresponders. rs-fMRI could prove critical for optimizing stimulation parameters in a future sham-controlled trial of rTMS in disordered eating.

  6. Adapting Phonological Awareness Interventions for Children with Down Syndrome Based on the Behavioral Phenotype: A Promising Approach?

    Science.gov (United States)

    Lemons, Christopher J.; King, Seth A.; Davidson, Kimberly A.; Puranik, Cynthia S.; Fulmer, Deborah; Mrachko, Alicia A.; Partanen, Jane; Al Otaiba, Stephanie; Fidler, Deborah J.

    2015-01-01

    Many children with Down syndrome demonstrate deficits in phonological awareness, a prerequisite to learning to read in an alphabetic language. The purpose of this study was to determine whether adapting a commercially available phonological awareness program to better align with characteristics associated with the behavioral phenotype of Down…

  7. Adapting Phonological Awareness Interventions for Children with Down Syndrome Based on the Behavioral Phenotype: A Promising Approach?

    Science.gov (United States)

    Lemons, Christopher J.; King, Seth A.; Davidson, Kimberly A.; Puranik, Cynthia S.; Fulmer, Deborah; Mrachko, Alicia A.; Partanen, Jane; Al Otaiba, Stephanie; Fidler, Deborah J.

    2015-01-01

    Many children with Down syndrome demonstrate deficits in phonological awareness, a prerequisite to learning to read in an alphabetic language. The purpose of this study was to determine whether adapting a commercially available phonological awareness program to better align with characteristics associated with the behavioral phenotype of Down…

  8. Genetic and phenotypic correlations between feather pecking behavior, stress response, immune reponse, and egg quality traits in laying hens

    NARCIS (Netherlands)

    Buitenhuis, A.J.; Rodenburg, T.B.; Wissink, P.H.; Visscher, J.; Koene, P.; Bovenhuis, H.; Ducro, B.J.; Poel, van der J.J.

    2004-01-01

    The objective of the current study was to estimate genetic and phenotypic correlations among feather pecking (FP) behavior and stress response, immune response, and egg quality parameters. These traits have been measured in an F-2 cross, coming from a cross between a high and a low FP line of laying

  9. The Role of Depressive Symptoms, Family Invalidation and Behavioral Impulsivity in the Occurrence and Repetition of Non-Suicidal Self-Injury in Chinese Adolescents: A 2-Year Follow-Up Study

    Science.gov (United States)

    You, Jianing; Leung, Freedom

    2012-01-01

    This study used zero-inflated poisson regression analysis to examine the role of depressive symptoms, family invalidation, and behavioral impulsivity in the occurrence and repetition of non-suicidal self-injury among Chinese community adolescents over a 2-year period. Participants, 4782 high school students, were assessed twice during the…

  10. cGMP-dependent protein kinase type II knockout mice exhibit working memory impairments, decreased repetitive behavior, and increased anxiety-like traits.

    Science.gov (United States)

    Wincott, Charlotte M; Abera, Sinedu; Vunck, Sarah A; Tirko, Natasha; Choi, Yoon; Titcombe, Roseann F; Antoine, Shannon O; Tukey, David S; DeVito, Loren M; Hofmann, Franz; Hoeffer, Charles A; Ziff, Edward B

    2014-10-01

    Neuronal activity regulates AMPA receptor trafficking, a process that mediates changes in synaptic strength, a key component of learning and memory. This form of plasticity may be induced by stimulation of the NMDA receptor which, among its activities, increases cyclic guanosine monophosphate (cGMP) through the nitric oxide synthase pathway. cGMP-dependent protein kinase type II (cGKII) is ultimately activated via this mechanism and AMPA receptor subunit GluA1 is phosphorylated at serine 845. This phosphorylation contributes to the delivery of GluA1 to the synapse, a step that increases synaptic strength. Previous studies have shown that cGKII-deficient mice display striking spatial learning deficits in the Morris Water Maze compared to wild-type littermates as well as lowered GluA1 phosphorylation in the postsynaptic density of the prefrontal cortex (Serulle et al., 2007; Wincott et al., 2013). In the current study, we show that cGKII knockout mice exhibit impaired working memory as determined using the prefrontal cortex-dependent Radial Arm Maze (RAM). Additionally, we report reduced repetitive behavior in the Marble Burying task (MB), and heightened anxiety-like traits in the Novelty Suppressed Feeding Test (NSFT). These data suggest that cGKII may play a role in the integration of information that conveys both anxiety-provoking stimuli as well as the spatial and environmental cues that facilitate functional memory processes and appropriate behavioral response.

  11. Study of genetics, phenotypic and behavioral properties of eubacteria and archaebacteria

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    Hamid Kazemian

    2016-06-01

    Full Text Available Background: The genome of the bacteria has considerable diversity in terms of sequence of nucleotide bases and change over the time. With the advancement of bioinformatics science possibility of the vast comparison to living organisms has risen. During the last two decades many information about genome sequencing of pathogenic and non-pathogenic bacteria have been published. Using this information and to find connections between them and many phenotypic characteristics and behavior of bacteria could be used in many studies. In this study we compared some of the genetic, phenotypic and behavioral properties of archaebacteria and eubacteria. Methods: In this analytical study, genomic Information of 286 species of archaebacteria and 122 species of eubacteria were collected from the NCBI (National Center for Biotechnology Information site which was conducted in April to June 2015. Mean of gene size, gene number, protein number and C+G content compared in the two groups of archaebacteria and eubacteria. Association of genomic characterization of bacteria with several other characteristics were analyzed using SPSS statistical software version 19 (Chicago, IL, USA. For this purpose, the Pearson correlation coefficient (Pearson, Student’s t-test and ANOVA test (One-way analysis of variance was used. The P values less than 0.05 was considered as significant level. Results: There was significant association between means discrepancy in two group (P= 0.01. The genome size of eubacteria and archaebacteria have significant association with some of the characteristics of bacteria, such as the C+G content, the number of proteins, genes and habitats of the bacteria (P= 0.01. As well as there was significant association between genome size and features such as number of pseudogene, mobility and type of breathing in eubacteria (P= 0.01 but not in archaebacterial (P˃ 0.05. Conclusion: Many characteristics of eubacteria and archaebacteria are significantly

  12. Removal of FKBP12 enhances mTOR-Raptor interactions, LTP, memory, and perseverative/repetitive behavior.

    Science.gov (United States)

    Hoeffer, Charles A; Tang, Wei; Wong, Helen; Santillan, Arturo; Patterson, Richard J; Martinez, Luis A; Tejada-Simon, Maria V; Paylor, Richard; Hamilton, Susan L; Klann, Eric

    2008-12-10

    FK506-binding protein 12 (FKBP12) binds the immunosuppressant drugs FK506 and rapamycin and regulates several signaling pathways, including mammalian target of rapamycin (mTOR) signaling. We determined whether the brain-specific disruption of the FKBP12 gene in mice altered mTOR signaling, synaptic plasticity, and memory. Biochemically, the FKBP12-deficient mice displayed increases in basal mTOR phosphorylation, mTOR-Raptor interactions, and p70 S6 kinase (S6K) phosphorylation. Electrophysiological experiments revealed that FKBP12 deficiency was associated with an enhancement in long-lasting hippocampal long-term potentiation (LTP). The LTP enhancement was resistant to rapamycin, but not anisomycin, suggesting that altered translation control is involved in the enhanced synaptic plasticity. Behaviorally, FKBP12 conditional knockout (cKO) mice displayed enhanced contextual fear memory and autistic/obsessive-compulsive-like perseveration in several assays including the water maze, Y-maze reversal task, and the novel object recognition test. Our results indicate that FKBP12 plays a critical role in the regulation of mTOR-Raptor interactions, LTP, memory, and perseverative behaviors.

  13. Fat discrimination: a phenotype with potential implications for studying fat intake behaviors and obesity.

    Science.gov (United States)

    Liang, Lisa C H; Sakimura, Johannah; May, Daniel; Breen, Cameron; Driggin, Elissa; Tepper, Beverly J; Chung, Wendy K; Keller, Kathleen L

    2012-01-18

    Variations in fat preference and intake across humans are poorly understood in part because of difficulties in studying this behavior. The objective of this study was to develop a simple procedure to assess fat discrimination, the ability to accurately perceive differences in the fat content of foods, and assess the associations between this phenotype and fat ingestive behaviors and adiposity. African-American adults (n=317) were tested for fat discrimination using 7 forced choice same/different tests with Italian salad dressings that ranged in fat-by-weight content from 5 to 55%. Performance on this procedure was determined by tallying the number of trials in which a participant correctly identified the pair of samples as "same" or "different" across all test pairs (ranging from 1 to 7). Individuals who received the lowest scores on this task (≤3 out of 7 correct) were classified as fat non-discriminators (n=33) and those who received the highest scores (7 out of 7 correct) were classified as fat discriminators (n=59). These 2 groups were compared for the primary outcome variables: reported food intake, preferences, and adiposity. After adjusting for BMI, sex, age, and dietary restraint and disinhibition, fat non-discriminators reported greater consumption of both added fats and reduced fat foods (pFat non-discriminators also had greater abdominal adiposity compared to fat discriminators (pfat discrimination test (rho=0.53; pfat discrimination may serve as clinical research tool to identify participants who are at risk for obesity and other chronic diseases due to increased fat intake. Copyright © 2011 Elsevier Inc. All rights reserved.

  14. Comparison of genetics, phenotypic and behavioral properties of eubacteria and archaebacteria

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    HAMID KAZEMIAN

    2016-06-01

    Full Text Available Background: The genome of the bacteria has considerable diversity and change over the time. With the advancement of bioinformatics science possibility of the vast comparison to living organisms has risen. In this study we compared some of the genetic, phenotypic and behavioral properties of archaebacteria and eubacteria. Methods: Genomic Information of 286 species of archaebacteria and 122 species of eubacteria were collected from the NCBI National Center for Biotechnology Information( site. Mean of gene size, gene number, protein number and  C + G content compared in the two groups of archaebacteria and eubacteria.  Association of genomic characterization of bacteria with several other characteristics were analyzed using SPSS statistical software version 19. Results: There was significant association between means discrepancy in two group. The genome size of eubacteria and archaebacteria have significant association with some of the characteristics of bacteria, such as the C + G content, the number of proteins, genes and habitats of the bacteria. As well as there was significant association between genome size and features such as number of pseudogene, mobility and type of breathing in eubacteria but not in archaebacteria. Conclusion: Many characteristics  of eubacteria and archaebacteria are significantly associated with genomic properties. Comparison genomics of bacteria will help in identification of evolutionary origins as well as differences between different categories of bacterial.

  15. Phenotypic and Behavioral Defects Induced by Iron Exposure Can Be Transferred to Progeny in Caenorhabditis elegans

    Institute of Scientific and Technical Information of China (English)

    YA-OU HU; YANG WANG; BO-PING YE; DA-YONG WANG

    2008-01-01

    Previous work has showed that excess iron accumulation is harmful to reproduction and even promotes death;however,whether the multiple biological toxicity of iron (Fe) exposure could be transferred to progeny remains unknown.The present study used Caenorhabditis elegans to analyze the multiple toxicities of iron exposure and their possible transferable properties.Methods Three concentrations of iron sulfate solution (2.5μmol/L,75μmol/L,and 200 lamol/L) were used.The endpoints of lifespan,body size,generation time,brood size,head thrash and body bend frequencies,and chemotaxis plasticity were selected to investigate Fe toxicity and its effect on progeny in Caenorhabditis elegans.Results The Fe toxicity could cause multiple biological defects in a dose-dependent manner by affecting different endpoints in nematodes.Most of the multiple biological defects and behavior toxicities could be transferred from Fe-exposed Caenorhabditis elegans to their progeny.Compared to the parents,no recovery phenotypes were observed for some of the defects in the progeny,such as body bend frequency and life span.We further summarized the defects caused by Fe exposure into 2 groups according to their transferable properties.Conclusion Our results suggest that Fe exposure could cause multiple biological defects,and most of these severe defects could be transferred from Fe exposed nematodes to their progeny.

  16. A latent modeling approach to genotype-phenotype relationships: maternal problem behavior clusters, prenatal smoking, and MAOA genotype.

    Science.gov (United States)

    McGrath, L M; Mustanski, B; Metzger, A; Pine, D S; Kistner-Griffin, E; Cook, E; Wakschlag, L S

    2012-08-01

    This study illustrates the application of a latent modeling approach to genotype-phenotype relationships and gene × environment interactions, using a novel, multidimensional model of adult female problem behavior, including maternal prenatal smoking. The gene of interest is the monoamine oxidase A (MAOA) gene which has been well studied in relation to antisocial behavior. Participants were adult women (N = 192) who were sampled from a prospective pregnancy cohort of non-Hispanic, white individuals recruited from a neighborhood health clinic. Structural equation modeling was used to model a female problem behavior phenotype, which included conduct problems, substance use, impulsive-sensation seeking, interpersonal aggression, and prenatal smoking. All of the female problem behavior dimensions clustered together strongly, with the exception of prenatal smoking. A main effect of MAOA genotype and a MAOA × physical maltreatment interaction were detected with the Conduct Problems factor. Our phenotypic model showed that prenatal smoking is not simply a marker of other maternal problem behaviors. The risk variant in the MAOA main effect and interaction analyses was the high activity MAOA genotype, which is discrepant from consensus findings in male samples. This result contributes to an emerging literature on sex-specific interaction effects for MAOA.

  17. A testosterone-related structural brain phenotype predicts aggressive behavior from childhood to adulthood.

    Science.gov (United States)

    Nguyen, Tuong-Vi; McCracken, James T; Albaugh, Matthew D; Botteron, Kelly N; Hudziak, James J; Ducharme, Simon

    2016-01-01

    Structural covariance, the examination of anatomic correlations between brain regions, has emerged recently as a valid and useful measure of developmental brain changes. Yet the exact biological processes leading to changes in covariance, and the relation between such covariance and behavior, remain largely unexplored. The steroid hormone testosterone represents a compelling mechanism through which this structural covariance may be developmentally regulated in humans. Although steroid hormone receptors can be found throughout the central nervous system, the amygdala represents a key target for testosterone-specific effects, given its high density of androgen receptors. In addition, testosterone has been found to impact cortical thickness (CTh) across the whole brain, suggesting that it may also regulate the structural relationship, or covariance, between the amygdala and CTh. Here, we examined testosterone-related covariance between amygdala volumes and whole-brain CTh, as well as its relationship to aggression levels, in a longitudinal sample of children, adolescents, and young adults 6-22 years old. We found: (1) testosterone-specific modulation of the covariance between the amygdala and medial prefrontal cortex (mPFC); (2) a significant relationship between amygdala-mPFC covariance and levels of aggression; and (3) mediation effects of amygdala-mPFC covariance on the relationship between testosterone and aggression. These effects were independent of sex, age, pubertal stage, estradiol levels and anxious-depressed symptoms. These findings are consistent with prior evidence that testosterone targets the neural circuits regulating affect and impulse regulation, and show, for the first time in humans, how androgen-dependent organizational effects may regulate a very specific, aggression-related structural brain phenotype from childhood to young adulthood. Copyright © 2015 Elsevier Ltd. All rights reserved.

  18. Distinct behavioral phenotypes in ethanol-induced place preference are associated with different extinction and reinstatement but not behavioral sensitization responses

    Science.gov (United States)

    Pildervasser, João V. N.; Abrahao, Karina P.; Souza-Formigoni, Maria L. O.

    2014-01-01

    Conditioned place preference (CPP) is a model to study the role of drug conditioning properties. In outbred strains, individual variability may affect some behavioral measures. However, there are few studies focusing on understanding how different phenotypes of ethanol conditioned behavior may influence its extinction, reinstatement, and behavioral adaptation measures. We used male Swiss Webster mice to study different phenotypes related to ethanol conditioning strength, reinstatement and behavioral sensitization. Mice went through a CPP procedure with ethanol (2.2 g/kg, i.p.). After that, one group of mice was submitted to repeated extinction sessions, while another group remained in their home cages without any drug treatment. Mice went through environmental and ethanol priming (1.0 g/kg, i.p.) reinstatement tests. Ethanol priming test reinstated the conditioned behavior only in the animals kept in the home-cage during the abstinence period. Besides, the ethanol conditioned behavior strength was positively correlated with the time required to be extinguished. In the second set of experiments, some mice went through a CPP protocol followed by behavioral sensitization (five i.p. administrations of ethanol 2.2 g/kg or saline per week, for 3 weeks) and another group of mice went through sensitization followed by CPP. No positive correlation was observed between ethanol CPP strength and the intensity of behavioral sensitization. Considering that different phenotypes observed in CPP strength predicted the variability in other CPP measures, we developed a statistics-based method to classify mice according to CPP strength to be used in the evaluation of ethanol conditioning properties. PMID:25152719

  19. Microbial-Host Co-metabolites Are Prodromal Markers Predicting Phenotypic Heterogeneity in Behavior, Obesity, and Impaired Glucose Tolerance

    Directory of Open Access Journals (Sweden)

    Marc-Emmanuel Dumas

    2017-07-01

    Full Text Available The influence of the gut microbiome on metabolic and behavioral traits is widely accepted, though the microbiome-derived metabolites involved remain unclear. We carried out untargeted urine 1H-NMR spectroscopy-based metabolic phenotyping in an isogenic C57BL/6J mouse population (n = 50 and show that microbial-host co-metabolites are prodromal (i.e., early markers predicting future divergence in metabolic (obesity and glucose homeostasis and behavioral (anxiety and activity outcomes with 94%–100% accuracy. Some of these metabolites also modulate disease phenotypes, best illustrated by trimethylamine-N-oxide (TMAO, a product of microbial-host co-metabolism predicting future obesity, impaired glucose tolerance (IGT, and behavior while reducing endoplasmic reticulum stress and lipogenesis in 3T3-L1 adipocytes. Chronic in vivo TMAO treatment limits IGT in HFD-fed mice and isolated pancreatic islets by increasing insulin secretion. We highlight the prodromal potential of microbial metabolites to predict disease outcomes and their potential in shaping mammalian phenotypic heterogeneity.

  20. Change in the Behavioral Phenotype of Adolescents and Adults with FXS: Role of the Family Environment

    Science.gov (United States)

    Smith, Leann E.; Hong, Jinkuk; Greenberg, Jan S.; Mailick, Marsha R.

    2016-01-01

    The present study examined trajectories of adaptive behavior, behavior problems, psychological symptoms, and autism symptoms in adolescents and adults with fragile X syndrome (n = 147) over a three-year period. Adaptive behavior significantly increased over time, particularly for adolescents, and the severity of behavior problems decreased over…

  1. Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

    OpenAIRE

    Kozol, Robert A; Cukier, Holly N.; Zou, Bing; Mayo, Vera; De Rubeis, Silvia; Cai, Guiqing; Griswold, Anthony J.; Whitehead, Patrice L.; Haines, Jonathan L; Gilbert, John R; CUCCARO, MICHAEL L.; Martin, Eden R.; Baker, James D.; Joseph D. Buxbaum; Pericak-Vance, Margaret A.

    2015-01-01

    Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1–2% of children and adults, and is characterized by deficits in verbal and non-verbal communication, and social interactions, as well as the presence of repetitive behaviors and/or stereotyped interests. ASD is clinically and etiologically heterogeneous, with a strong genetic component. Here, we pr...

  2. Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features

    Directory of Open Access Journals (Sweden)

    Buxbaum Joseph D

    2012-02-01

    Full Text Available Abstract Background There is interest in defining mouse neurobiological phenotypes useful for studying autism spectrum disorders (ASD in both forward and reverse genetic approaches. A recurrent focus has been on high-order behavioral analyses, including learning and memory paradigms and social paradigms. However, well-studied mouse models, including for example Fmr1 knockout mice, do not show dramatic deficits in such high-order phenotypes, raising a question as to what constitutes useful phenotypes in ASD models. Methods To address this, we made use of a list of 112 disease genes etiologically involved in ASD to survey, on a large scale and with unbiased methods as well as expert review, phenotypes associated with a targeted disruption of these genes in mice, using the Mammalian Phenotype Ontology database. In addition, we compared the results with similar analyses for human phenotypes. Findings We observed four classes of neurobiological phenotypes associated with disruption of a large proportion of ASD genes, including: (1 Changes in brain and neuronal morphology; (2 electrophysiological changes; (3 neurological changes; and (4 higher-order behavioral changes. Alterations in brain and neuronal morphology represent quantitative measures that can be more widely adopted in models of ASD to understand cellular and network changes. Interestingly, the electrophysiological changes differed across different genes, indicating that excitation/inhibition imbalance hypotheses for ASD would either have to be so non-specific as to be not falsifiable, or, if specific, would not be supported by the data. Finally, it was significant that in analyses of both mouse and human databases, many of the behavioral alterations were neurological changes, encompassing sensory alterations, motor abnormalities, and seizures, as opposed to higher-order behavioral changes in learning and memory and social behavior paradigms. Conclusions The results indicated that mutations

  3. Evidence that behavioral phenotypes of morphine in β-arr2-/- mice are due to the unmasking of JNK signaling.

    Science.gov (United States)

    Mittal, Nitish; Tan, Miao; Egbuta, Onyemachi; Desai, Nina; Crawford, Cynthia; Xie, Cui-Wei; Evans, Christopher; Walwyn, Wendy

    2012-07-01

    The altered behavioral effects of morphine, but not most other mu agonists, in mice lacking β-arrestin 2, suggest that this scaffolding protein regulates the signaling cascade of this commonly used analgesic. One of the cascades that could be regulated by β-arrestin 2 is cJun-N-terminal kinase (JNK), which binds with β-arrestin 2 and modulates the analgesic effects of morphine. Using neurons lacking β-arrestin 2 (β-arr2-/-) to examine this interaction, we found that β-arr2-/- neurons show altered intracellular distribution of JNK and cJun, and that morphine, but not fentanyl, increased the nuclear localization of the phosphorylated, therefore activated, form of cJun, a JNK target in dorsal root ganglia neurons. This suggests that deleting β-arrestin 2 affects the JNK cascade. We therefore examined whether some of the behavioral phenotypes of mice lacking β-arrestin 2 could be a result of altered JNK signaling. Indeed, two different JNK inhibitors reversed the enhanced analgesic effect of morphine, a known phenotype of β-arr2-/- mice, to +/+ levels. Both the reduced locomotor effect of morphine and the psychomotor sensitization to repeated morphine administration in β-arr2-/- mice were also returned to +/+ levels by inhibiting JNK. In contrast, the behavioral effects of fentanyl were neither genotype-dependent nor affected by JNK inhibition. Furthermore, a PKC inhibitor had a similar effect as inhibiting JNK in reducing the enhanced analgesic effect of morphine in β-arr2-/- mice to +/+ levels. In summary, removing β-arrestin 2 reveals mu receptor activation of the JNK cascade in a ligand-specific manner explaining several behavioral phenotypes of β-arr2-/- mice.

  4. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.

    Science.gov (United States)

    Grados, Marco A; Alvi, Mustafa H; Srivastava, Siddharth

    2017-03-01

    Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. The CdLS behavioral phenotype includes autistic traits as a prominent feature; however, brain imaging studies, required to understand gene-brain-behavior connections in CdLS, are scarce. Moreover, autistic features in CdLS have a greater emphasis on repetitive behaviors, including self-injurious behaviors (SIB) and expressive communication deficits, different that the core social deficit seen in idiopathic autism. Current data strongly support the use of CdLS as a model disease for repetitive behaviors and associated developmental delay manifestations. Behavioral phenotype characteristics in CdLS point to a preponderance of repetitive clinical phenomena as well as expressive verbal deficits that ought to inform specific treatment approaches in CdLS. In particular, repetitive behaviors associated with self-injury are of high negative impact on the quality of life for individuals with CdLS and their families. Treatment approaches geared to manage repetitive behaviors and self-injurious behaviors in CdLS are required in this developmental condition.

  5. High-throughput behavioral phenotyping of drug and alcohol susceptibility traits in the expanded panel of BXD recombinant inbred strains

    Energy Technology Data Exchange (ETDEWEB)

    Philip, Vivek M [ORNL; Ansah, T [University of Tennessee Health Science Center, Memphis; Blaha, C, [University of Tennessee Health Science Center, Memphis; Cook, Melloni N. [University of Memphis; Hamre, Kristin M. [University of Tennessee Health Science Center, Memphis; Lariviere, William R [University of Pittsburgh; Matthews, Douglas B [Baylor University; Goldowitz, Daniel [University of British Columbia, Vancouver; Chesler, Elissa J [ORNL

    2010-01-01

    Genetic reference populations, particularly the BXD recombinant inbred strains, are a valuable resource for the discovery of the bio-molecular substrates and genetic drivers responsible for trait variation and co- ariation. This approach can be profitably applied in the analysis of susceptibility and mechanisms of drug and alcohol use disorders for which many predisposing behaviors may predict occurrence and manifestation of increased preference for these substances. Many of these traits are modeled by common mouse behavioral assays, facilitating the detection of patterns and sources of genetic co-regulation of predisposing phenotypes and substance consumption. Members of the Tennessee Mouse Genome Consortium have obtained behavioral phenotype data from 260 measures related to multiple behavioral assays across several domains: self-administration, response to, and withdrawal from cocaine, MDMA, morphine and alcohol; novelty seeking; behavioral despair and related neurological phenomena; pain sensitivity; stress sensitivity; anxiety; hyperactivity; and sleep/wake cycles. All traits have been measured in both sexes and the recently expanded panel of 69 additional BXD recombinant inbred strains (N=69). Sex differences and heritability estimates were obtained for each trait, and a comparison of early (N = 32) and recent BXD RI lines was performed. Primary data is publicly available for heritability, sex difference and genetic analyses using www.GeneNetwork.org. These analyses include QTL detection and genetic analysis of gene expression. Stored results from these analyses are available at http://ontologicaldiscovery.org for comparison to other genomic analysis results. Together with the results of related studies, these data form a public resource for integrative systems genetic analysis of neurobehavioral traits.

  6. Positive affect: phenotypic and etiologic associations with prosocial behaviors and internalizing problems in toddlers.

    Science.gov (United States)

    Wang, Manjie; Saudino, Kimberly J

    2015-01-01

    Despite evidence for the associations of positive affect to prosocial behaviors and internalizing problems, relatively little is known about the underlying etiology. The sample comprised over 300 twin pairs at age 3. Positive affect, prosocial behaviors, and internalizing problems were assessed using the Toddler Behavior Assessment Questionnaire (Goldsmith, 1996), the Revised Rutter Parent Scale for Preschool Children (Hogg et al., 1997), and the Child Behavior Checklist for ages 1.5-5 (Achenbach, 1991), respectively. Positive affect correlated positively with prosocial behaviors, and negatively with internalizing problems. Prosocial behaviors were negatively associated with internalizing problems. The relations of positive affect to prosocial behaviors and internalizing problems were due to environmental effects (shared and non-shared). In contrast, the link between prosocial behaviors and internalizing problems was entirely explained by genetic effects. The current study has moved beyond prior emphasis on negative affect and elucidated the less understood etiology underlying the associations between positive affect, prosocial behaviors, and internalizing problems. This study could guide the development of programs for promoting prosocial behaviors and alleviating internalizing problems in children.

  7. Grammatical Change through Repetition.

    Science.gov (United States)

    Arevart, Supot

    1989-01-01

    The effect of repetition on grammatical change in an unrehearsed talk is examined based on a case study of a single learner. It was found that repetition allows for accuracy monitoring in that errors committed in repeated contexts undergo correction. Implications for teaching are discussed. (23 references) (LB)

  8. The Negative Repetition Effect

    Science.gov (United States)

    Mulligan, Neil W.; Peterson, Daniel J.

    2013-01-01

    A fundamental property of human memory is that repetition enhances memory. Peterson and Mulligan (2012) recently documented a surprising "negative repetition effect," in which participants who studied a list of cue-target pairs twice recalled fewer targets than a group who studied the pairs only once. Words within a pair rhymed, and…

  9. Roles of repetitive sequences

    Energy Technology Data Exchange (ETDEWEB)

    Bell, G.I.

    1991-12-31

    The DNA of higher eukaryotes contains many repetitive sequences. The study of repetitive sequences is important, not only because many have important biological function, but also because they provide information on genome organization, evolution and dynamics. In this paper, I will first discuss some generic effects that repetitive sequences will have upon genome dynamics and evolution. In particular, it will be shown that repetitive sequences foster recombination among, and turnover of, the elements of a genome. I will then consider some examples of repetitive sequences, notably minisatellite sequences and telomere sequences as examples of tandem repeats, without and with respectively known function, and Alu sequences as an example of interspersed repeats. Some other examples will also be considered in less detail.

  10. Roles of repetitive sequences

    Energy Technology Data Exchange (ETDEWEB)

    Bell, G.I.

    1991-12-31

    The DNA of higher eukaryotes contains many repetitive sequences. The study of repetitive sequences is important, not only because many have important biological function, but also because they provide information on genome organization, evolution and dynamics. In this paper, I will first discuss some generic effects that repetitive sequences will have upon genome dynamics and evolution. In particular, it will be shown that repetitive sequences foster recombination among, and turnover of, the elements of a genome. I will then consider some examples of repetitive sequences, notably minisatellite sequences and telomere sequences as examples of tandem repeats, without and with respectively known function, and Alu sequences as an example of interspersed repeats. Some other examples will also be considered in less detail.

  11. Female guppies agree to differ: phenotypic and genetic variation in mate-choice behavior and the consequences for sexual selection.

    Science.gov (United States)

    Brooks, R; Endler, J A

    2001-08-01

    Variation among females in mate choice may influence evolution by sexual selection. The genetic basis of this variation is of interest because the elaboration of mating preferences requires additive genetic variation in these traits. Here we measure the repeatability and heritability of two components of female choosiness (responsiveness and discrimination) and of female preference functions for the multiple ornaments borne by male guppies (Poecilia reticulata). We show that there is significant repeatable variation in both components of choosiness and in some preference functions but not in others. There appear to be several male ornaments that females find uniformly attractive and others for which females differ in preference. One consequence is that there is no universally attractive male phenotype. Only responsiveness shows significant additive genetic variation. Variation in responsiveness appears to mask variation in discrimination and some preference functions and may be the most biologically relevant source of phenotypic and genetic variation in mate-choice behavior. To test the potential evolutionary importance of the phenotypic variation in mate choice that we report, we estimated the opportunity for and the intensity of sexual selection under models of mate choice that excluded and that incorporated individual female variation. We then compared these estimates with estimates based on measured mating success. Incorporating individual variation in mate choice generally did not predict the outcome of sexual selection any better than models that ignored such variation.

  12. Diacylglycerol lipase a knockout mice demonstrate metabolic and behavioral phenotypes similar to those of cannabinoid receptor 1 knockout mice

    Directory of Open Access Journals (Sweden)

    David R Powell

    2015-06-01

    Full Text Available After creating >4650 knockouts (KOs of independent mouse genes, we screened them by high-throughput phenotyping and found that cannabinoid receptor 1 (Cnr1 KO mice had the same lean phenotype published by others. We asked if our KOs of DAG lipase a or b (Dagla or Daglb, which catalyze biosynthesis of the endocannabinoid (EC 2-Arachidonoylglycerol (2-AG, or Napepld, which catalyzes biosynthesis of the EC anandamide, shared the lean phenotype of Cnr1 KO mice. We found that Dagla KO mice, but not Daglb or Napepld KO mice, were among the leanest of 3651 chow-fed KO lines screened. In confirmatory studies, chow- or high fat diet-fed Dagla and Cnr1 KO mice were leaner than wild type (WT littermates; when data from multiple cohorts of adult mice were combined, body fat was 47% and 45% lower in Dagla and Cnr1 KO mice, respectively, relative to WT values. In contrast, neither Daglb nor Napepld KO mice were lean. Weanling Dagla KO mice ate less than WT mice and had body weight similar to pair-fed WT mice, and adult Dagla KO mice had normal activity and VO2 levels, similar to Cnr1 KO mice. Our Dagla and Cnr1 KO mice also had low fasting insulin, triglyceride and total cholesterol levels, and after a glucose challenge had normal glucose but very low insulin levels. Dagla and Cnr1 KO mice also showed similar responses to a battery of behavioral tests. These data suggest: 1 the lean phenotype of young Dagla and Cnr1 KO mice is mainly due to hypophagia; 2 in pathways where ECs signal through Cnr1 to regulate food intake and other metabolic and behavioral phenotypes observed in Cnr1 KO mice, Dagla alone provides the 2-AG that serves as the EC signal; and 3 small molecule Dagla inhibitors with a pharmacokinetic profile similar to that of Cnr1 inverse agonists are likely to mirror the ability of these Cnr1 inverse agonists to lower body weight and improve glycemic control in obese patients with type 2 diabetes, but may also induce undesirable neuropsychiatric

  13. Kraepelin’s description of chronic mania: a clinical picture that meets the behavioral variant frontotemporal dementia phenotype

    Directory of Open Access Journals (Sweden)

    Leandro Boson Gambogi

    Full Text Available ABSTRACT Chronic mania is an under-investigated condition and few reports have associated this disorder with an organic background. The present work examines Kraepelin’s reliable description of chronic mania from a current behavioral neurology viewpoint. Kraepelin had described a cluster of symptoms that are now recognized as core manifestations of the behavioral variant frontotemporal dementia (bvFTD clinical phenotype. We also carried out additional reviews of original manuscripts from Kraepelin’s peers, in order to find any case reports that might fulfill the current diagnostic proposal for bvFTD. Even though we failed to find an ideal case, we found some scholars who seemed to agree that chronic mania should be considered a special form of dementia. The present work highlights, through historical data, the possible overlapping features between primary psychiatric disorders and neuropsychiatric symptoms secondary to neurodegenerative conditions.

  14. Meta-analysis of melanin-concentrating hormone signaling-deficient mice on behavioral and metabolic phenotypes.

    Directory of Open Access Journals (Sweden)

    Kenkichi Takase

    Full Text Available The demand for meta-analyses in basic biomedical research has been increasing because the phenotyping of genetically modified mice does not always produce consistent results. Melanin-concentrating hormone (MCH has been reported to be involved in a variety of behaviors that include feeding, body-weight regulation, anxiety, sleep, and reward behavior. However, the reported behavioral and metabolic characteristics of MCH signaling-deficient mice, such as MCH-deficient mice and MCH receptor 1 (MCHR1-deficient mice, are not consistent with each other. In the present study, we performed a meta-analysis of the published data related to MCH-deficient and MCHR1-deficient mice to obtain robust conclusions about the role of MCH signaling. Overall, the meta-analysis revealed that the deletion of MCH signaling enhanced wakefulness, locomotor activity, aggression, and male sexual behavior and that MCH signaling deficiency suppressed non-REM sleep, anxiety, responses to novelty, startle responses, and conditioned place preferences. In contrast to the acute orexigenic effect of MCH, MCH signaling deficiency significantly increased food intake. Overall, the meta-analysis also revealed that the deletion of MCH signaling suppressed the body weight, fat mass, and plasma leptin, while MCH signaling deficiency increased the body temperature, oxygen consumption, heart rate, and mean arterial pressure. The lean phenotype of the MCH signaling-deficient mice was also confirmed in separate meta-analyses that were specific to sex and background strain (i.e., C57BL/6 and 129Sv. MCH signaling deficiency caused a weak anxiolytic effect as assessed with the elevated plus maze and the open field test but also caused a weak anxiogenic effect as assessed with the emergence test. MCH signaling-deficient mice also exhibited increased plasma corticosterone under non-stressed conditions, which suggests enhanced activity of the hypothalamic-pituitary-adrenal axis. To the best of our

  15. Enriched environment decreases microglia and brain macrophages inflammatory phenotypes through adiponectin-dependent mechanisms: Relevance to depressive-like behavior.

    Science.gov (United States)

    Chabry, Joëlle; Nicolas, Sarah; Cazareth, Julie; Murris, Emilie; Guyon, Alice; Glaichenhaus, Nicolas; Heurteaux, Catherine; Petit-Paitel, Agnès

    2015-11-01

    Regulation of neuroinflammation by glial cells plays a major role in the pathophysiology of major depression. While astrocyte involvement has been well described, the role of microglia is still elusive. Recently, we have shown that Adiponectin (ApN) plays a crucial role in the anxiolytic/antidepressant neurogenesis-independent effects of enriched environment (EE) in mice; however its mechanisms of action within the brain remain unknown. Here, we show that in a murine model of depression induced by chronic corticosterone administration, the hippocampus and the hypothalamus display increased levels of inflammatory cytokines mRNA, which is reversed by EE housing. By combining flow cytometry, cell sorting and q-PCR, we show that microglia from depressive-like mice adopt a pro-inflammatory phenotype characterized by higher expression levels of IL-1β, IL-6, TNF-α and IκB-α mRNAs. EE housing blocks pro-inflammatory cytokine gene induction and promotes arginase 1 mRNA expression in brain-sorted microglia, indicating that EE favors an anti-inflammatory activation state. We show that microglia and brain-macrophages from corticosterone-treated mice adopt differential expression profiles for CCR2, MHC class II and IL-4recα surface markers depending on whether the mice are kept in standard environment or EE. Interestingly, the effects of EE were abolished when cells are isolated from ApN knock-out mouse brains. When injected intra-cerebroventricularly, ApN, whose level is specifically increased in cerebrospinal fluid of depressive mice raised in EE, rescues microglia phenotype, reduces pro-inflammatory cytokine production by microglia and blocks depressive-like behavior in corticosterone-treated mice. Our data suggest that EE-induced ApN increase within the brain regulates microglia and brain macrophages phenotype and activation state, thus reducing neuroinflammation and depressive-like behaviors in mice.

  16. Repetition and Translation Shifts

    Directory of Open Access Journals (Sweden)

    Simon Zupan

    2006-06-01

    Full Text Available Repetition manifests itself in different ways and at different levels of the text. The first basic type of repetition involves complete recurrences; in which a particular textual feature repeats in its entirety. The second type involves partial recurrences; in which the second repetition of the same textual feature includes certain modifications to the first occurrence. In the article; repetitive patterns in Edgar Allan Poe’s short story “The Fall of the House of Usher” and its Slovene translation; “Konec Usherjeve hiše”; are compared. The author examines different kinds of repetitive patterns. Repetitions are compared at both the micro- and macrostructural levels. As detailed analyses have shown; considerable microstructural translation shifts occur in certain types of repetitive patterns. Since these are not only occasional; sporadic phenomena; but are of a relatively high frequency; they reduce the translated text’s potential for achieving some of the gothic effects. The macrostructural textual property particularly affected by these shifts is the narrator’s experience as described by the narrative; which suffers a reduction in intensity.

  17. Suggestive Linkage of the Child Behavior Checklist Juvenile Bipolar Disorder Phenotype to 1p21, 6p21, and 8q21

    Science.gov (United States)

    Doyle, Alysa E.; Biederman, Joseph; Ferreira, Manuel A. R.; Wong, Patricia; Smoller, Jordan W.; Faraone, Stephen V.

    2010-01-01

    Objective: Several studies have documented a profile of elevated scores on the Attention Problems, Aggressive Behavior and Anxious/Depressed scales of the Child Behavior Checklist (CBCL) in youth with bipolar disorder. The sum of these scales, referred to as the CBCL Juvenile Bipolar Disorder (JBD) phenotype, has modest diagnostic utility, and…

  18. Modeling autism-relevant behavioral phenotypes in rats and mice : Do 'autistic' rodents exist?

    NARCIS (Netherlands)

    Servadio, Michela; Vanderschuren, Louk J M J; Trezza, Viviana

    2015-01-01

    Autism spectrum disorders (ASD) are among the most severe developmental psychiatric disorders known today, characterized by impairments in communication and social interaction and stereotyped behaviors. However, no specific treatments for ASD are as yet available. By enabling selective genetic, neur

  19. Humans display a reduced set of consistent behavioral phenotypes in dyadic games

    CERN Document Server

    Poncela-Casasnovas, Julia; Gracia-Lazaro, Carlos; Vicens, Julian; Gomez-Gardenes, Jesus; Perello, Josep; Moreno, Yamir; Duch, Jordi; Sanchez, Angel

    2016-01-01

    Socially relevant situations that involve strategic interactions are widespread among animals and humans alike. To study these situations, theoretical and experimental works have adopted a game-theoretical perspective, which has allowed to obtain valuable insights about human behavior. However, most of the results reported so far have been obtained from a population perspective and considered one specific conflicting situation at a time. This makes it difficult to extract conclusions about the consistency of individuals' behavior when facing different situations, and more importantly, to define a comprehensive classification of the strategies underlying the observed behaviors. Here, we present the results of a lab-in-the-field experiment in which subjects face four different dyadic games, with the aim of establishing general behavioral rules dictating individuals' actions. By analyzing our data with an unsupervised clustering algorithm, we find that all the subjects conform, with a large degree of consistency...

  20. Generation of membrane-bound catechol-O-methyl transferase deficient mice with disctinct sex dependent behavioral phenotype.

    Science.gov (United States)

    Tammimaki, A; Aonurm-Helm, A; Zhang, F P; Poutanen, M; Duran-Torres, G; Garcia-Horsman, A; Mannisto, P T

    2016-12-01

    Catechol-O-methyltransferase (COMT) has two isoforms: soluble (S-COMT), which resides in the cytoplasm, and membrane-bound (MB-MT), anchored to intracellular membranes. COMT is involved in the O-methylation of L-DOPA, dopamine and other catechols. The exact role of MB-COMT is still mostly unclear. We wanted to create a novel genetically modified mouse model that specifically lacks MB-COMT activity and to study their behavioral phenotype. MB-COMT knock-in mutant mice were generated by introducing two point mutations in exon 2 of the Comt gene (ATGCTG->GAGCTC disabling the function of the P2 promoter and allowing only the P1-regulated S-COMT transcription. The first mutation changes methionine to glutamic acid whereas the second one does not affect coding. The expression of the two COMT isoforms, total COMT activity in several areas of the brain and peripheral tissues and extracellular dopamine concentrations after L-DOPA (10 mg/kg) and carbidopa (30 mg/kg) subcutaneous administration were assessed. A battery of behavioral tests was performed to compare MB-COMT deficient mice and their wild type littermates of both sexes. MB-COMT deficient mice were seemingly normal, bred usually and had unaltered COMT activity in the brain and periphery despite a complete lack of the MB-COMT protein. MB-COMT deficient male mice showed higher extracellular dopamine levels than their wild-type littermates in the striatum, but not in the mPFC. In addition, the MB-COMT deficient male mice exhibited a distinct endophenotype characterized by schizophrenia-related behaviors like aggressive behavior and reduced prepulse inhibition. They also had prolonged immobility in the tail suspension test. Both sexes were sensitized to acute pain and had normal motor activity but disturbed short-term memory. Hence the behavioral phenotype was not limited to schizophrenia-related endophenotype and some behavioural findings were not sex-dependent. Our findings indicate that MB-COMT is critical for

  1. Behavioral phenotype in children with 22q11DS: agreement between parents and teachers.

    Science.gov (United States)

    Klaassen, Petra W J; Duijff, Sasja N; Sinnema, Gerben; Beemer, Frits A; Swanenburg de Veye, Henriëtte F N; Vorstman, Jacob A S

    2015-03-01

    Patients with the 22q11-deletion syndrome (22q11DS) are at an increased risk of developing schizophrenia. Besides the effects of genetic variation, environmental factors could also be important in modifying the risk of schizophrenia in 22q11DS patients. In particular, previous studies have shown the importance of stress as a precipitating factor of psychosis. An incongruence between the perceived and actual severity of behavioral and cognitive domains could lead caregivers, and even the children themselves, to make demands that are insufficiently adapted to the child's abilities, causing stress and anxiety. Here, we investigate whether such diagnostic discrepancies are indeed present by comparing parent and teacher reports on behavioral concerns in children with 22q11DS. Behavioral questionnaires (CBCL and TRF) were prepared for both parents and teachers of 146 children with 22q11DS. We found that in line with previous reports, internalizing behavior was more frequently reported than externalizing behavior. While the behavioral profiles reported by parents and teachers were remarkably similar, the teachers' ratings were significantly lower (Total problem score p = .002). Age and IQ were not significantly associated with the severity of reported concerns. Our results indicate that indeed a disparity often exists between parents' and teachers' perceptions of the severity of a child's behavioral deficits. This may result in (substantially) different demands and expectations being placed on the child from the two fronts. We speculate that the stress resulting from this lack of cohesion between parents and teachers could precipitate, at least in some 22q11DS children, the emergence of psychosis. 2015 APA, all rights reserved

  2. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY.

    Science.gov (United States)

    Samango-Sprouse, Carole; Stapleton, Emily J; Lawson, Patrick; Mitchell, Francie; Sadeghin, Teresa; Powell, Sherida; Gropman, Andrea L

    2015-06-01

    47, XXY occurs in up to 1 in 650 male births and is associated with androgen deficiency, neurodevelopmental delays, and atypical social-behaviors. Previously, we showed that young boys with 47, XXY who received early hormonal therapy (EHT) had significantly improved neurodevelopment. The objective of this follow-up study was to examine the effects of EHT on social behavior in boys with 47, XXY. The study consisted of boys prenatally diagnosed with 47, XXY who were referred for evaluations. Twenty-nine boys received three injections of 25 mg testosterone enanthate and 57 controls did not receive EHT. Behavioral functioning was assessed using the Behavior Rating Inventory of Executive Function, Social Responsiveness Scale, 2nd Ed., and the Child Behavior Checklist for Ages 6-18. The hypothesis that EHT may affect behavior was formulated prior to data collection. Questionnaire data was prospectively obtained and analyzed to test for significance between two groups. Significant differences were identified between group's scores over time in Social Communication (P=0.007), Social Cognition (P=0.006), and Total T-score (P=0.001) on the SRS-2; Initiation (P=0.05) on the BRIEF; and Externalizing Problems (P=0.024), Affective Problems (P=0.05), and Aggressive Behaviors (P=0.031) on the CBCL. This is the third study revealing positive effects of EHT on boys with XXY. There was a significant improvements associated with the 47, XXY genotype in boys who received EHT. Research is underway on the neurobiological mechanisms, and later developmental effects of EHT.

  3. Effects of MC4R, FTO, and NMB gene variants to obesity, physical activity, and eating behavior phenotypes.

    Science.gov (United States)

    Kirac, Deniz; Kasimay Cakir, Ozgur; Avcilar, Tuba; Deyneli, Oguzhan; Kurtel, Hizir; Yazici, Dilek; Kaspar, Elif Cigdem; Celik, Nurgul; Guney, Ahmet Ilter

    2016-10-01

    Obesity is a major contributory factor of morbidity and mortality. It has been suggested that biological systems may be involved in the tendency to be and to remain physically inactive also behaviors such as food and beverage preferences and nutrient intake may at least partially genetically determined. Consequently, besides environment, genetic factors may also contribute to the level of physical activity and eating behaviors thus effect obesity. Therefore the aim of this study is to investigate the effect of various gene mutations on obesity, physical activity levels and eating behavior phenotypes. One hundred patients and 100 controls were enrolled to the study. Physical activity levels were measured with an actical acceloremeter device. Eating behaviors were evaluated using Three-Factor Eating questionnaire (TFEQ). Associations between eating behavior scores and physical characteristics were also evaluated. The information about other obesity risk factors were also collected. Mutations were investigated with PCR, direct sequencing and Real-Time PCR. rs1051168, rs8050146 -2778C > T mutations were found statistically significant in patients, rs1121980 was found statistically significant in controls. 21 mutations were found in MC4R and near MC4R of which 18 of them are novel and 8 of them cause amino acid change. In addition, it was found that, some obesity related factors and questions of TFEQ are associated with various investigated gene mutations. Any relation between gene mutations and physical activity levels were not detected. It is thought that, due to the genotype data and eating behaviors, it may be possible to recommend patients for proper eating patterns to prevent obesity. © 2016 IUBMB Life, 68(10):806-816, 2016. © 2016 International Union of Biochemistry and Molecular Biology.

  4. Trialogue: Preparation, Repetition and...

    Science.gov (United States)

    Oberg, Antoinette; And Others

    1996-01-01

    This paper interrogates both curriculum theory and the limits and potentials of textual forms. A set of overlapping discourses (a trialogue) focuses on inquiring into the roles of obsession and repetition in creating deeply interpretive locations for understanding. (SM)

  5. Phenotypic differences in reentrainment behavior and sensitivity to nighttime light pulses in siberian hamsters.

    Science.gov (United States)

    Ruby, Norman F; Barakat, Monique T; Heller, H Craig

    2004-12-01

    Spontaneous reentrainment to phase shifts of the photocycle is a fundamental property of all circadian systems. Siberian hamsters are, however, unique in this regard because most fail to reentrain when the LD cycle (16-h light/day) is phase delayed by 5 h. In the present study, the authors compared reentrainment responses in hamsters from 2 colonies. One colony descended from animals trapped in the wild more than 30 years ago (designated "nonentrainers"), and the other colony was outbred as recently as 13 years ago (designated "entrainers"). As reported previously, only 10% of hamsters from the nonentrainer colony reentrained to a 5-h phase delay of the LD cycle. By contrast, 75% of animals from the entrainer colony reentrained to the phase shift. Another goal of this study was to test the hypothesis that failure to reentrain was a consequence of light exposure during the middle of the night on the day of the 5-h phase delay. This hypothesis was tested by exposing animals to 2 h of light during the early, middle, or late part of the night and then subjecting them on the next day to a 3-h phase delay of the photocycle, which is a phase shift to which all hamsters normally reentrain. All animals from both colonies reentrained when light pulses occurred early in the night, but more animals from the entrainer colony, compared to the nonentrainer colony, reentrained when the light pulse occurred in the middle or late part of the night. The phenotypic variation in reentrainment responses is similar to the variation in photoperiodic responsiveness previously reported for these 2 colonies. Phenotypic variation in both traits is due to underlying differences in circadian organization and suggests a common genetic basis for reentrainment responses and photoperiodic responsiveness.

  6. An open-source toolbox for automated phenotyping of mice in behavioral tasks

    Directory of Open Access Journals (Sweden)

    Tapan P Patel

    2014-10-01

    Full Text Available Classifying behavior patterns in mouse models of neurological, psychiatric and neurodevelopmental disorders is critical for understanding disease causality and treatment. However, complete characterization of behavior is time-intensive, prone to subjective scoring, and often requires specialized equipment. Although several reports describe automated home-cage monitoring and individual task scoring methods, we report the first open source, comprehensive toolbox for automating the scoring of several common behavior tasks used by the neuroscience community. We show this new toolbox is robust and achieves equal or better consistency when compared to manual scoring methods. We use this toolbox to study the alterations in behavior that occur following blast-induced traumatic brain injury (bTBI, and study if these behavior patterns are altered following genetic deletion of the transcription factor Ets-like kinase 1 (Elk-1. Due to the role of Elk-1 in neuronal survival and proposed role in synaptic plasticity, we hypothesized that Elk-1 deletion would improve some neurobehavioral deficits, while impairing others, following blast exposure. In Elk-1 knockout animals, deficits in open field, spatial object recognition and elevated zero maze performance after blast exposure disappeared, while new significant deficits appeared in spatial and associative memory. These are the first data suggesting a molecular mediator of anxiety deficits following blast-induced traumatic brain injury, and represent the utility of the broad screening tool we developed. More broadly, we envision this open-source toolbox will provide a more consistent and rapid analysis of behavior across many neurological diseases, promoting the rapid discovery of novel pathways mediating disease progression and treatment.

  7. Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY

    Science.gov (United States)

    Palkar, Pooja; Kabasakalian, Anahid; Taylor, Bonnie; Doernberg, Ellen; Ferretti, Casara Jean; Uzunova, Genoveva; Hollander, Eric

    2016-01-01

    Summary We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY. PMID:27672550

  8. Cyclic-AMP metabolism in synaptic growth, strength and precision: Neural and behavioral phenotype-specific counterbalancing effects between dnc PDE and rut AC mutations

    OpenAIRE

    Ueda, Atsushi; Wu, Chun-Fang

    2012-01-01

    Two classic learning mutants in Drosophila, rutabaga (rut) and dunce (dnc), are defective in cAMP synthesis and degradation, respectively, exhibiting a variety of neuronal and behavioral defects. We ask how the opposing effects of these mutations on cAMP levels modify subsets of phenotypes, and whether any specific phenotypes could be ameliorated by biochemical counter balancing effects in dnc rut double mutants. Our study at larval neuromuscular junctions (NMJs) demonstrate that dnc mutation...

  9. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

    NARCIS (Netherlands)

    Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Radke, S.; Bruijn, E.R.A. de; Vries, B. de; Kessels, R.P.C.; Koolen, D.A.

    2013-01-01

    The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical

  10. No delayed behavioral and phenotypic responses to experimental early-life lead exposure in great tits (Parus major).

    Science.gov (United States)

    Ruuskanen, Suvi; Eeva, Tapio; Kotitalo, Päivi; Stauffer, Janina; Rainio, Miia

    2015-02-01

    Early-life exposure to pollutants, such as lead, may have long-lasting consequences on health, behavior, and cognition. However, experiments on delayed effects of specific pollutants are very rare in wild animals. We experimentally exposed wild nestling great tits (Parus major) to dietary lead (high, low, or control group) in levels relevant to exposure levels of wild populations in Europe and studied delayed effects on phenotypic and behavioral traits in captivity. We also included a group of birds from a vicinity of a copper smelter, exposed to a mixture of toxic metals and altered food supply during development. This experimental setup allowed us to compare the strength of direct (exposure to lead per se) and indirect (pollution-related changes in diet) effects of pollutants. Our experimental lead treatment significantly increased lead levels in bone and feces compared with controls. However, we found no carry-over effect of early-life dietary lead on morphology, plumage coloration, or heat shock proteins. Treatment did not affect activity, exploration, neophobia, or success in learning and spatial memory task. We conclude that with the exposure levels and relatively short exposure period used, delayed effects on the measured traits were not found. However, it is important to further study other types of behavioral traits and ultimately fitness effects.

  11. Adapting Phonological Awareness Interventions for Children With Down Syndrome Based on the Behavioral Phenotype: A Promising Approach?

    Science.gov (United States)

    Lemons, Christopher J; King, Seth A; Davidson, Kimberly A; Puranik, Cynthia S; Fulmer, Deborah; Mrachko, Alicia A; Partanen, Jane; Al Otaiba, Stephanie; Fidler, Deborah J

    2015-08-01

    Many children with Down syndrome demonstrate deficits in phonological awareness, a prerequisite to learning to read in an alphabetic language. The purpose of this study was to determine whether adapting a commercially available phonological awareness program to better align with characteristics associated with the behavioral phenotype of Down syndrome would increase children's learning of phonological awareness, letter sounds, and words. Five children with Down syndrome, ages 6 to 8 years, participated in a multiple baseline across participants single case design experiment in which response to an adapted phonological awareness intervention was compared with response to the nonadapted program. Results indicate a functional relation between the adapted program and phonological awareness. Suggestions for future research and implications for practice are provided.

  12. Mice lacking TrkB in parvalbumin-positive cells exhibit sexually dimorphic behavioral phenotypes

    OpenAIRE

    Lucas, Elizabeth K.; Jegarl, Anita; Clem, Roger L.

    2014-01-01

    Activity-dependent brain-derived neurotrophic factor (BDNF) signaling through receptor tyrosine kinase B (TrkB) is required for cued fear memory consolidation and extinction. Although BDNF is primarily secreted from glutamatergic neurons, TrkB is expressed by other genetically defined cells whose contributions to the behavioral effects of BDNF remain poorly understood. Parvalbumin (PV)-positive interneurons, which are highly enriched in TrkB, are emerging as key regulators of fear memory expr...

  13. An allele of sequoia dominantly enhances a trio mutant phenotype to influence Drosophila larval behavior.

    Directory of Open Access Journals (Sweden)

    Kathryn E Dean

    Full Text Available The transition of Drosophila third instar larvae from feeding, photo-phobic foragers to non-feeding, photo-neutral wanderers is a classic behavioral switch that precedes pupariation. The neuronal network responsible for this behavior has recently begun to be defined. Previous genetic analyses have identified signaling components for food and light sensory inputs and neuropeptide hormonal outputs as being critical for the forager to wanderer transition. Trio is a Rho-Guanine Nucleotide Exchange Factor integrated into a variety of signaling networks including those governing axon pathfinding in early development. Sequoia is a pan-neuronally expressed zinc-finger transcription factor that governs dendrite and axon outgrowth. Using pre-pupal lethality as an endpoint, we have screened for dominant second-site enhancers of a weakly lethal trio mutant background. In these screens, an allele of sequoia has been identified. While these mutants have no obvious disruption of embryonic central nervous system architecture and survive to third instar larvae similar to controls, they retain forager behavior and thus fail to pupariate at high frequency.

  14. Repetition and Reactance in Graham’s "Underneath" Poems

    Directory of Open Access Journals (Sweden)

    Roghayeh Farsi

    2017-09-01

    Full Text Available The present paper gives a detailed analysis and interpretation of 16 poems in Jorie Graham's collection, Swarm (2000, which bear "UNDERNEATH" as their main titles. The poems are marked with different types of repetition such as graphological repetition, word, phrase, and sentential repetition, semantic repetition, and syntactic repetition. The study draws on Lakoff and Johnson's theories on metaphor and Brehm and Brehm’s reactance theory. It is argued "underneath" is a conceptual (orientational metaphor which signifies a state of being limited, lack of control and freedom, and loss of power. The paper investigates the speaker's reactant behavior in "Underneath" poems, seeking a way to restore her lost freedom. Reactance behaviors can be skepticism, inertia, aggression, and resistance. It is concluded despite her thematic inertia, representing her submission to the oppressed state, her stylistic reactance reflected in repetitions, innovations, and disruptive diction stands for her attempts to regain her lost control.

  15. Validity and Reliability of the "Behavior Problems Inventory," the "Aberrant Behavior Checklist," and the "Repetitive Behavior Scale--Revised" among Infants and Toddlers at Risk for Intellectual or Developmental Disabilities: A Multi-Method Assessment Approach

    Science.gov (United States)

    Rojahn, Johannes; Schroeder, Stephen R.; Mayo-Ortega, Liliana; Oyama-Ganiko, Rosao; LeBlanc, Judith; Marquis, Janet; Berke, Elizabeth

    2013-01-01

    Reliable and valid assessment of aberrant behaviors is essential in empirically verifying prevention and intervention for individuals with intellectual or developmental disabilities (IDD). Few instruments exist which assess behavior problems in infants. The current longitudinal study examined the performance of three behavior-rating scales for…

  16. Generational Association Studies of Dopaminergic Genes in Reward Deficiency Syndrome (RDS Subjects: Selecting Appropriate Phenotypes for Reward Dependence Behaviors

    Directory of Open Access Journals (Sweden)

    Frank Fornari

    2011-11-01

    Full Text Available Abnormal behaviors involving dopaminergic gene polymorphisms often reflect an insufficiency of usual feelings of satisfaction, or Reward Deficiency Syndrome (RDS. RDS results from a dysfunction in the “brain reward cascade,” a complex interaction among neurotransmitters (primarily dopaminergic and opioidergic. Individuals with a family history of alcoholism or other addictions may be born with a deficiency in the ability to produce or use these neurotransmitters. Exposure to prolonged periods of stress and alcohol or other substances also can lead to a corruption of the brain reward cascade function. We evaluated the potential association of four variants of dopaminergic candidate genes in RDS (dopamine D1 receptor gene [DRD1]; dopamine D2 receptor gene [DRD2]; dopamine transporter gene [DAT1]; dopamine beta-hydroxylase gene [DBH]. Methodology: We genotyped an experimental group of 55 subjects derived from up to five generations of two independent multiple-affected families compared to rigorously screened control subjects (e.g., N = 30 super controls for DRD2 gene polymorphisms. Data related to RDS behaviors were collected on these subjects plus 13 deceased family members. Results: Among the genotyped family members, the DRD2 Taq1 and the DAT1 10/10 alleles were significantly (at least p < 0.015 more often found in the RDS families vs. controls. The TaqA1 allele occurred in 100% of Family A individuals (N = 32 and 47.8% of Family B subjects (11 of 23. No significant differences were found between the experimental and control positive rates for the other variants. Conclusions: Although our sample size was limited, and linkage analysis is necessary, the results support the putative role of dopaminergic polymorphisms in RDS behaviors. This study shows the importance of a nonspecific RDS phenotype and informs an understanding of how evaluating single subset behaviors of RDS may lead to spurious results. Utilization of a nonspecific

  17. Behavioral phenotyping of Parkin-deficient mice: looking for early preclinical features of Parkinson's disease.

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    Daniel Rial

    Full Text Available There is considerable evidence showing that the neurodegenerative processes that lead to sporadic Parkinson's disease (PD begin many years before the appearance of the characteristic motor symptoms. Neuropsychiatric, sensorial and cognitive deficits are recognized as early non-motor manifestations of PD, and are not attenuated by the current anti-parkinsonian therapy. Although loss-of-function mutations in the parkin gene cause early-onset familial PD, Parkin-deficient mice do not display spontaneous degeneration of the nigrostriatal pathway or enhanced vulnerability to dopaminergic neurotoxins such as 6-OHDA and MPTP. Here, we employed adult homozygous C57BL/6 mice with parkin gene deletion on exon 3 (parkin-/- to further investigate the relevance of Parkin in the regulation of non-motor features, namely olfactory, emotional, cognitive and hippocampal synaptic plasticity. Parkin-/- mice displayed normal performance on behavioral tests evaluating olfaction (olfactory discrimination, anxiety (elevated plus-maze, depressive-like behavior (forced swimming and tail suspension and motor function (rotarod, grasping strength and pole. However, parkin-/- mice displayed a poor performance in the open field habituation, object location and modified Y-maze tasks suggestive of procedural and short-term spatial memory deficits. These behavioral impairments were accompanied by impaired hippocampal long-term potentiation (LTP. These findings indicate that the genetic deletion of parkin causes deficiencies in hippocampal synaptic plasticity, resulting in memory deficits with no major olfactory, emotional or motor impairments. Therefore, parkin-/- mice may represent a promising animal model to study the early stages of PD and for testing new therapeutic strategies to restore learning and memory and synaptic plasticity impairments in PD.

  18. Behavioral phenotyping of glutathione-deficient mice: relevance to schizophrenia and bipolar disorder.

    Science.gov (United States)

    Kulak, Anita; Cuenod, Michel; Do, Kim Q

    2012-01-15

    Redox-dysregulation represents a common pathogenic mechanism in schizophrenia (SZ) and bipolar disorder (BP). It may in part arise from a genetically compromised synthesis of glutathione (GSH), the major cellular antioxidant and redox-regulator. Allelic variants of the genes coding for the rate-limiting GSH synthesizing enzyme glutamate-cysteine-ligase modifier (GCLM) and/or catalytic (GCLC) subunit have been associated with SZ and BP. Using mice knockout (KO) for GCLM we have previously shown that impaired GSH synthesis is associated with morphological, functional and neurochemical anomalies similar to those in patients. Here we asked whether GSH deficit is also associated with SZ- and BP-relevant behavioral and cognitive anomalies. Accordingly, we subjected young adult GCLM-wildtype (WT), heterozygous and KO males to a battery of standard tests. Compared to WT, GCLM-KO mice displayed hyperlocomotion in the open field and forced swim test but normal activity in the home cage, suggesting that hyperlocomotion was selective to environmental novelty and mildly stressful situations. While spatial working memory and latent inhibition remained unaffected, KO mice showed a potentiated hyperlocomotor response to an acute amphetamine injection, impaired sensorymotor gating in the form of prepulse inhibition and altered social behavior compared to WT. These anomalies resemble important aspects of both SZ and the manic component of BP. As such our data support the notion that redox-dysregulation due to GSH deficit is implicated in both disorders. Moreover, our data propose the GCLM-KO mouse as a valuable model to study the behavioral and cognitive consequences of redox dysregulation in the context of psychiatric disease.

  19. Behavioral phenotypes in schizophrenic animal models with multiple combinations of genetic and environmental factors.

    Science.gov (United States)

    Hida, Hirotake; Mouri, Akihiro; Noda, Yukihiro

    2013-01-01

    Schizophrenia is a multifactorial psychiatric disorder in which both genetic and environmental factors play a role. Genetic [e.g., Disrupted-in-schizophrenia 1 (DISC1), Neuregulin-1 (NRG1)] and environmental factors (e.g., maternal viral infection, obstetric complications, social stress) may act during the developmental period to increase the incidence of schizophrenia. In animal models, interactions between susceptibility genes and the environment can be controlled in ways not possible in humans; therefore, such models are useful for investigating interactions between or within factors in the pathogenesis and pathophysiology of schizophrenia. We provide an overview of schizophrenic animal models investigating interactions between or within factors. First, we reviewed gene-environment interaction animal models, in which schizophrenic candidate gene mutant mice were subjected to perinatal immune activation or adolescent stress. Next, environment-environment interaction animal models, in which mice were subjected to a combination of perinatal immune activation and adolescent administration of drugs, were described. These animal models showed interaction between or within factors; behavioral changes, which were obscured by each factor, were marked by interaction of factors and vice versa. Appropriate behavioral approaches with such models will be invaluable for translational research on novel compounds, and also for providing insight into the pathogenesis and pathophysiology of schizophrenia.

  20. Reducing Repetitive Speech: Effects of Strategy Instruction.

    Science.gov (United States)

    Dipipi, Caroline M.; Jitendra, Asha K.; Miller, Judith A.

    2001-01-01

    This article describes an intervention with an 18-year-old young woman with mild mental retardation and a seizure disorder, which focused on her repetitive echolalic verbalizations. The intervention included time delay, differential reinforcement of other behaviors, and self-monitoring. Overall, the intervention was successful in facilitating…

  1. Identification of genetic modifiers of behavioral phenotypes in serotonin transporter knockout rats

    Directory of Open Access Journals (Sweden)

    Nijman Isaäc J

    2010-05-01

    Full Text Available Abstract Background Genetic variation in the regulatory region of the human serotonin transporter gene (SLC6A4 has been shown to affect brain functionality and personality. However, large heterogeneity in its biological effects is observed, which is at least partially due to genetic modifiers. To gain insight into serotonin transporter (SERT-specific genetic modifiers, we studied an intercross between the Wistar SERT-/- rat and the behaviorally and genetically divergent Brown Norway rat, and performed a QTL analysis. Results In a cohort of >150 intercross SERT-/- and control (SERT+/+ rats we characterized 12 traits that were previously associated with SERT deficiency, including activity, exploratory pattern, cocaine-induced locomotor activity, and abdominal and subcutaneous fat. Using 325 genetic markers, 10 SERT-/--specific quantitative trait loci (QTLs for parameters related to activity and exploratory pattern (Chr.1,9,11,14, and cocaine-induced anxiety and locomotor activity (Chr.5,8 were identified. No significant QTLs were found for fat parameters. Using in silico approaches we explored potential causal genes within modifier QTL regions and found interesting candidates, amongst others, the 5-HT1D receptor (Chr. 5, dopamine D2 receptor (Chr. 8, cannabinoid receptor 2 (Chr. 5, and genes involved in fetal development and plasticity (across chromosomes. Conclusions We anticipate that the SERT-/--specific QTLs may lead to the identification of new modulators of serotonergic signaling, which may be targets for pharmacogenetic and therapeutic approaches.

  2. Side of Onset in Parkinson’s Disease and Alterations in Religiosity: Novel Behavioral Phenotypes

    Directory of Open Access Journals (Sweden)

    Paul M. Butler

    2011-01-01

    Full Text Available Behavioral neurologists have long been interested in changes in religiosity following circumscribed brain lesions. Advances in neuroimaging and cognitive experimental techniques have been added to these classical lesion-correlational approaches in attempt to understand changes in religiosity due to brain damage. In this paper we assess processing dynamics of religious cognition in patients with Parkinson’s disease (PD. We administered a four-condition story-based priming procedure, and then covertly probed for changes in religious belief. Story-based priming emphasized mortality salience, religious ritual, and beauty in nature (Aesthetic. In neurologically intact controls, religious belief-scores significantly increased following the Aesthetic prime condition. When comparing effects of right (RO versus left onset (LO in PD patients, a double-dissociation in religious belief-scores emerged based on prime condition. RO patients exhibited a significant increase in belief following the Aesthetic prime condition and LO patients significantly increased belief in the religious ritual prime condition. Results covaried with executive function measures. This suggests lateral cerebral specialization for ritual-based (left frontal versus aesthetic-based (right frontal religious cognition. Patient-centered individualized treatment plans should take religiosity into consideration as a complex disease-associated phenomenon connected to other clinical variables and health outcomes.

  3. Lithium prevents parkinsonian behavioral and striatal phenotypes in an aged parkin mutant transgenic mouse model.

    Science.gov (United States)

    Lieu, Christopher A; Dewey, Colleen M; Chinta, Shankar J; Rane, Anand; Rajagopalan, Subramanian; Batir, Sean; Kim, Yong-Hwan; Andersen, Julie K

    2014-12-03

    Lithium has long been used as a treatment for the psychiatric disease bipolar disorder. However, previous studies suggest that lithium provides neuroprotective effects in neurodegenerative diseases such as Parkinson's disease (PD) and Alzheimer's disease. The exact mechanism by which lithium exerts these effects still remains unclear. In the present study, we evaluated the effects of low-dose lithium treatment in an aged mouse model expressing a parkin mutation within dopaminergic neurons. We found that low-dose lithium treatment prevented motor impairment as demonstrated by the open field test, pole test, and rearing behavior. Furthermore, lithium prevented dopaminergic striatal degeneration in parkin animals. We also found that parkin-induced striatal astrogliosis and microglial activation were prevented by lithium treatment. Our results further corroborate the use of this parkin mutant transgenic mouse line as a model for PD for testing novel therapeutics. The findings of the present study also provide further validation that lithium could be re-purposed as a therapy for PD and suggest that anti-inflammatory effects may contribute to its neuroprotective mechanisms.

  4. The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X) : A Comparison with Autism Spectrum Disorder

    NARCIS (Netherlands)

    van Rijn, Sophie; Stockmann, Lex; Borghgraef, Martine; Bruining, Hilgo; van Ravenswaaij-Arts, Conny; Govaerts, Lutgarde; Hansson, Kerstin; Swaab, Hanna

    2014-01-01

    The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girl

  5. Can the Five Factor Model of Personality Account for the Variability of Autism Symptom Expression? Multivariate Approaches to Behavioral Phenotyping in Adult Autism Spectrum Disorder

    Science.gov (United States)

    Schwartzman, Benjamin C.; Wood, Jeffrey J.; Kapp, Steven K.

    2016-01-01

    The present study aimed to: determine the extent to which the five factor model of personality (FFM) accounts for variability in autism spectrum disorder (ASD) symptomatology in adults, examine differences in average FFM personality traits of adults with and without ASD and identify distinct behavioral phenotypes within ASD. Adults (N = 828;…

  6. The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

    Science.gov (United States)

    van Rijn, Sophie; Stockmann, Lex; Borghgraef, Martine; Bruining, Hilgo; van Ravenswaaij-Arts, Conny; Govaerts, Lutgarde; Hansson, Kerstin; Swaab, Hanna

    2014-01-01

    The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106…

  7. Can the Five Factor Model of Personality Account for the Variability of Autism Symptom Expression? Multivariate Approaches to Behavioral Phenotyping in Adult Autism Spectrum Disorder

    Science.gov (United States)

    Schwartzman, Benjamin C.; Wood, Jeffrey J.; Kapp, Steven K.

    2016-01-01

    The present study aimed to: determine the extent to which the five factor model of personality (FFM) accounts for variability in autism spectrum disorder (ASD) symptomatology in adults, examine differences in average FFM personality traits of adults with and without ASD and identify distinct behavioral phenotypes within ASD. Adults (N = 828;…

  8. Phenotypic characterization of nonsocial behavioral impairment in neurexin 1α knockout rats.

    Science.gov (United States)

    Esclassan, Frederic; Francois, Jennifer; Phillips, Keith G; Loomis, Sally; Gilmour, Gary

    2015-02-01

    Neurexins are neuronal presynaptic proteins that play a key role in mediation of synapse formation. Heterozygous partial deletions in the neurexin-1 gene (NRXN1, 2p16.3) have been observed in autism spectrum disorder (ASD) patients. NRXN1-α knockout (KO) mice present behavioral impairments that resemble some of the core ASD symptoms of social impairment and inflexibility/stereotypy. At present, a thorough assessment of cognitive function has yet to be completed. Rats, containing a biallelic deletion of the NRNX1-α gene on a Sprague Dawley background were compared to littermate wild types across a range of tasks designed to test functional domains disrupted in ASD and other neurodevelopmental disorders, including sensory perception (prepulse inhibition), attention (latent inhibition), associative learning (instrumental and Pavlovian conditioning), and memory (rewarded alternation T maze and spatial discrimination). NRXN1α KO rats were found to present with large and persistent nonsocial deficits, including hyperactivity, deficits in simple instrumental learning, latent inhibition, and spatial-dependent learning. No deficit in sensorimotor gating was observed, despite the presence of an exaggerated startle response. Although KO animals were also able to learn a simple Pavlovian conditioning discrimination, they did display impaired latent inhibition. The presence of pronounced impairments in several domains in NRXN1α KO rats clearly suggests that nonsocial cognitive deficits can also be measured in an animal model of ASD. Further exploration of those deficits, both clinically and preclinically, as planned in the Innovative Medicines Initiative's European Autism Interventions: A Multicenter Study for Developing New Medications program, may help to better understand the brain circuitry involved in ASD and therefore open new avenues to advance novel therapies.

  9. Novel porcine repetitive elements

    Directory of Open Access Journals (Sweden)

    Nonneman Dan J

    2006-12-01

    Full Text Available Abstract Background Repetitive elements comprise ~45% of mammalian genomes and are increasingly known to impact genomic function by contributing to the genomic architecture, by direct regulation of gene expression and by affecting genomic size, diversity and evolution. The ubiquity and increasingly understood importance of repetitive elements contribute to the need to identify and annotate them. We set out to identify previously uncharacterized repetitive DNA in the porcine genome. Once found, we characterized the prevalence of these repeats in other mammals. Results We discovered 27 repetitive elements in 220 BACs covering 1% of the porcine genome (Comparative Vertebrate Sequencing Initiative; CVSI. These repeats varied in length from 55 to 1059 nucleotides. To estimate copy numbers, we went to an independent source of data, the BAC-end sequences (Wellcome Trust Sanger Institute, covering approximately 15% of the porcine genome. Copy numbers in BAC-ends were less than one hundred for 6 repeat elements, between 100 and 1000 for 16 and between 1,000 and 10,000 for 5. Several of the repeat elements were found in the bovine genome and we have identified two with orthologous sites, indicating that these elements were present in their common ancestor. None of the repeat elements were found in primate, rodent or dog genomes. We were unable to identify any of the replication machinery common to active transposable elements in these newly identified repeats. Conclusion The presence of both orthologous and non-orthologous sites indicates that some sites existed prior to speciation and some were generated later. The identification of low to moderate copy number repetitive DNA that is specific to artiodactyls will be critical in the assembly of livestock genomes and studies of comparative genomics.

  10. Longitudinal analysis of the behavioral phenotype in a novel transgenic rat model of early stages of Alzheimer's disease.

    Science.gov (United States)

    Galeano, Pablo; Martino Adami, Pamela V; Do Carmo, Sonia; Blanco, Eduardo; Rotondaro, Cecilia; Capani, Francisco; Castaño, Eduardo M; Cuello, A Claudio; Morelli, Laura

    2014-01-01

    Intraneuronal accumulation of amyloid β (iAβ) has been linked to mild cognitive impairment that may precede Alzheimer's disease (AD) onset. This neuropathological trait was recently mimicked in a novel animal model of AD, the hemizygous transgenic McGill-R-Thy1-APP (Tg(+/-)) rat. The characterization of the behavioral phenotypes in this animal model could provide a baseline of efficacy for earlier therapeutic interventions. The aim of the present study was to undertake a longitudinal study of Aβ accumulation and a comprehensive behavioral evaluation of this transgenic rat model. We assessed exploratory activity, anxiety-related behaviors, recognition memory, working memory, spatial learning and reference memory at 3, 6, and 12 months of age. In parallel, we measured Aβ by ELISA, Western blots and semiquantitative immunohistochemistry in hippocampal samples. SDS-soluble Aβ peptide accumulated at low levels (~9 pg/mg) without differences among ages. However, Western blots showed SDS-resistant Aβ oligomers (~30 kDa) at 6 and 12 months, but not at 3 months. When compared to wild-type (WT), male Tg(+/-) rats exhibited a spatial reference memory deficit in the Morris Water Maze (MWM) as early as 3 months of age, which persisted at 6 and 12 months. In addition, Tg(+/-) rats displayed a working memory impairment in the Y-maze and higher anxiety levels in the Open Field (OF) at 6 and 12 months of age, but not at 3 months. Exploratory activity in the OF was similar to that of WT at all-time points. Spatial learning in the MWM and the recognition memory, as assessed by the Novel Object Recognition Test, were unimpaired at any time point. The data from the present study demonstrate that the hemizygous transgenic McGill-R-Thy1-APP rat has a wide array of behavioral and cognitive impairments from young adulthood to middle-age. The low Aβ burden and early emotional and cognitive deficits in this transgenic rat model supports its potential use for drug discovery purposes in

  11. Longitudinal analysis of the behavioral phenotype in a novel transgenic rat model of early stages of Alzheimer's disease

    Science.gov (United States)

    Galeano, Pablo; Martino Adami, Pamela V.; Do Carmo, Sonia; Blanco, Eduardo; Rotondaro, Cecilia; Capani, Francisco; Castaño, Eduardo M.; Cuello, A. Claudio; Morelli, Laura

    2014-01-01

    Intraneuronal accumulation of amyloid β (iAβ) has been linked to mild cognitive impairment that may precede Alzheimer's disease (AD) onset. This neuropathological trait was recently mimicked in a novel animal model of AD, the hemizygous transgenic McGill-R-Thy1-APP (Tg+/−) rat. The characterization of the behavioral phenotypes in this animal model could provide a baseline of efficacy for earlier therapeutic interventions. The aim of the present study was to undertake a longitudinal study of Aβ accumulation and a comprehensive behavioral evaluation of this transgenic rat model. We assessed exploratory activity, anxiety-related behaviors, recognition memory, working memory, spatial learning and reference memory at 3, 6, and 12 months of age. In parallel, we measured Aβ by ELISA, Western blots and semiquantitative immunohistochemistry in hippocampal samples. SDS-soluble Aβ peptide accumulated at low levels (~9 pg/mg) without differences among ages. However, Western blots showed SDS-resistant Aβ oligomers (~30 kDa) at 6 and 12 months, but not at 3 months. When compared to wild-type (WT), male Tg+/− rats exhibited a spatial reference memory deficit in the Morris Water Maze (MWM) as early as 3 months of age, which persisted at 6 and 12 months. In addition, Tg+/− rats displayed a working memory impairment in the Y-maze and higher anxiety levels in the Open Field (OF) at 6 and 12 months of age, but not at 3 months. Exploratory activity in the OF was similar to that of WT at all-time points. Spatial learning in the MWM and the recognition memory, as assessed by the Novel Object Recognition Test, were unimpaired at any time point. The data from the present study demonstrate that the hemizygous transgenic McGill-R-Thy1-APP rat has a wide array of behavioral and cognitive impairments from young adulthood to middle-age. The low Aβ burden and early emotional and cognitive deficits in this transgenic rat model supports its potential use for drug discovery purposes in

  12. Behavioral phenotype and BDNF differences related to apoE isoforms and sex in young transgenic mice

    DEFF Research Database (Denmark)

    Reverte, Ingrid; Klein, Anders Bue; Ratner, Cecilia

    2012-01-01

    Human apolipoprotein E (apoE) plays an important role in lipid transport and distribution, being involved in neurite growth and neuroprotection in the brain. In humans, the apoE4 isoform is a risk factor for developing Azheimer's disease (AD), while apoE2 seems to provide neuroprotection. However......, very little information is available on apoE2 genotype. In the present study, we have characterized behavioral and learning phenotypes in young transgenic mice apoE2, apoE3 and apoE4 of both sexes. We have also determined the levels of brain-derived neurotrophic factor (BDNF) and its receptor Trk......B in cortex and hippocampus of male and female mice carrying either genotype. Our results show a worse performance of apoE4 and apoE2 mice in the acquisition of a spatial task compared to apoE3 mice, and a worse retention in apoE2 mice compared to the other two genotypes. On the other hand, an increase...

  13. Impaired speech repetition and left parietal lobe damage.

    Science.gov (United States)

    Fridriksson, Julius; Kjartansson, Olafur; Morgan, Paul S; Hjaltason, Haukur; Magnusdottir, Sigridur; Bonilha, Leonardo; Rorden, Christopher

    2010-08-18

    Patients with left hemisphere damage and concomitant aphasia usually have difficulty repeating others' speech. Although impaired speech repetition, the primary symptom of conduction aphasia, has been associated with involvement of the left arcuate fasciculus, its specific lesion correlate remains elusive. This research examined speech repetition among 45 stroke patients who underwent aphasia testing and MRI examination. Based on lesion-behavior mapping, the primary structural damage most closely associated with impaired speech repetition was found in the posterior portion of the left arcuate fasciculus. However, perfusion-weighted MRI revealed that tissue dysfunction, in the form of either frank damage or hypoperfusion, to the left inferior parietal lobe, rather than the underlying white matter, was associated with impaired speech repetition. This latter result suggests that integrity of the left inferior parietal lobe is important for speech repetition and, as importantly, highlights the importance of examining cerebral perfusion for the purpose of lesion-behavior mapping in acute stroke.

  14. [Repetition and fear of dying].

    Science.gov (United States)

    Lerner, B D

    1995-03-01

    In this paper a revision is made of the qualifications of Repetition (R) in Freuds work, i.e. its being at the service of the Pleasure Principle and, beyond it, the binding of free energy due to trauma. Freud intends to explain with this last concept the "fort-da" and the traumatic dreams (obsessively reiterated self-reproaches may be added to them). The main thesis of this work is that R. is not only a defense against the recollection of the ominous past (as in the metaphorical deaths of abandonment and desertion) but also a way of maintaining life and identify fighting against the inescapable omninous future (known but yet experienced), i.e. our own death. Some forms of R. like habits, identificatory behaviors and sometimes even magic, are geared to serve the life instinct. A literary illustration shows this desperate fight.

  15. Feeding behavior, ruminal fermentation, and performance of pregnant beef cows differing in phenotypic residual feed intake offered grass silage.

    Science.gov (United States)

    Fitzsimons, C; Kenny, D A; Fahey, A G; McGee, M

    2014-05-01

    This study examined the relationship of residual feed intake (RFI) and performance with feeding behavior and ruminal fermentation variables in pregnant beef cows offered a grass silage diet. Individual grass silage DMI (dry matter digestibility = 666 g/kg) was recorded on 47 gestating (mean gestation d 166, SD = 26 d) Simmental and Simmental × Holstein-Friesian beef cows for a period of 80 d. Cow BW, BCS, skeletal measurements, ultrasonically scanned muscle and fat depth, visual muscular score, ruminal fermentation, blood metabolites, and feeding behavior were measured. Phenotypic RFI was calculated as actual DMI minus expected DMI. Expected DMI was computed for each animal by regressing DMI on conceptus-adjusted mean BW(0.75) and ADG over an 80-d period. Within breed, cows were ranked by RFI into low (efficient), medium, or high groups. Overall mean (SD) values for DMI (kg/d), RFI, initial conceptus-adjusted BW, and conceptus-adjusted ADG were 8.41 (1.09) kg/d, 0.01 (0.13) kg/d, 646 (70) kg, and -0.07 (0.32) kg, respectively. High-RFI cows ate 25% and 8% more than low- and medium-RFI cows, respectively. Live weight and ADG were not correlated (P > 0.05), and DMI was positively correlated (r = 0.80; P 0.05) BW, ADG, BCS, visual muscular scores, skeletal measurements, blood metabolites, calf birth weight, and calving difficulty scores. All ultrasonic fat and muscle depth measurements were similar (P > 0.05) for low- and high-RFI cows except for back fat thickness change, where low-RFI cows gained less fat (P feeding events, but these were of longer (P feed event(-1)·d(-1)). Despite this, total daily duration of feeding was shorter (P feed for similar levels of productivity, spent less time engaged in feeding-behavior-related activities, and differed in ruminal fermentation parameters. Feeding events are a significant (17%) contributory factor to variation in RFI in pregnant beef cows offered grass silage.

  16. MIMICRY, DIFFERENCE AND REPETITION

    Directory of Open Access Journals (Sweden)

    Marcelo Mendes de Souza

    2008-07-01

    Full Text Available This article addresses Homi K. Bhabha’s concept of mimicry in a broader context, other than that of cultural studies and post-colonial studies, bringing together other concepts, such as that of Gilles Deleuze in Difference and repetition, among other texts, and other names, such as Silviano Santiago, Jorge Luís Borges, Franz Kafka and Giorgio Agamben. As a partial conclusion, the article intends to oppose Bhabha’s freudian-marxist view to Five propositions on Psychoanalysis (1973, Gilles Deleuze’s text about Psychoanalysis published right after his book The Anti-Oedipus.

  17. Single cell dynamic phenotyping

    OpenAIRE

    Katherin Patsch; Chi-Li Chiu; Mark Engeln; Agus, David B.; Parag Mallick; Shannon M. Mumenthaler; Daniel Ruderman

    2016-01-01

    Live cell imaging has improved our ability to measure phenotypic heterogeneity. However, bottlenecks in imaging and image processing often make it difficult to differentiate interesting biological behavior from technical artifact. Thus there is a need for new methods that improve data quality without sacrificing throughput. Here we present a 3-step workflow to improve dynamic phenotype measurements of heterogeneous cell populations. We provide guidelines for image acquisition, phenotype track...

  18. Repetition in Waiting for Godot

    Institute of Scientific and Technical Information of China (English)

    李想; 魏妍

    2015-01-01

    Waiting for Godot is one of the most famous plays written by Samuel Barclay Beckett, and also is the founding work of“Theatre of the Absurd”. In the drama, repetitive phenomena shed light on the whole construction considerably. All the charac-ters were helpless and unthinking. Their dialogues were simple, nonsense and repetitive. Two scenes were cyclical. Repetition was used subtly in order to express the theme of the play, showing mental crisis after depravation of WWII.

  19. Repetitive exposures to a surrogate nipple providing nutritive and non-nutritive fluids: effects on suckling behavior of the newborn rat.

    Science.gov (United States)

    Petrov, Evgeniy S; Nizhnikov, Michael E; Kozlov, Andrey P; Varlinskaya, Elena I; Kramskaya, Tatiana A; Spear, Norman E

    2004-10-01

    Responsiveness to a surrogate nipple providing water, 0.1% saccharin, 10% sucrose, pedialyte, or milk was tested in naïve-to-suckling newborn rats during six 10-min exposures, one every 1.5 h over a 7.5 h period. Across a succession of exposures, newborn rats repeatedly attached to and ingested milk from a surrogate nipple, yielding significant body weight gain and increased concentration of blood plasma glucose. Initially, pups ingested considerable amounts of saccharin and sucrose, but then dramatically decreased their consumption of these fluids across the experimental sessions. Intake of milk was significantly higher than that of all other substances. Blood glucose concentration in pups treated with water, saccharin, sucrose, and pedialyte did not differ significantly from that of non-treated pups. The present data suggest a potential contribution of a fluid's palatability and nutritive value in the persistence and efficacy of diet intake for neonatal rats in the context of suckling behavior.

  20. Cyclic adenosine monophosphate metabolism in synaptic growth, strength, and precision: neural and behavioral phenotype-specific counterbalancing effects between dnc phosphodiesterase and rut adenylyl cyclase mutations.

    Science.gov (United States)

    Ueda, Atsushi; Wu, Chun-Fang

    2012-03-01

    Two classic learning mutants in Drosophila, rutabaga (rut) and dunce (dnc), are defective in cyclic adenosine monophosphate (cAMP) synthesis and degradation, respectively, exhibiting a variety of neuronal and behavioral defects. We ask how the opposing effects of these mutations on cAMP levels modify subsets of phenotypes, and whether any specific phenotypes could be ameliorated by biochemical counter balancing effects in dnc rut double mutants. Our study at larval neuromuscular junctions (NMJs) demonstrates that dnc mutations caused severe defects in nerve terminal morphology, characterized by unusually large synaptic boutons and aberrant innervation patterns. Interestingly, a counterbalancing effect led to rescue of the aberrant innervation patterns but the enlarged boutons in dnc rut double mutant remained as extreme as those in dnc. In contrast to dnc, rut mutations strongly affect synaptic transmission. Focal loose-patch recording data accumulated over 4 years suggest that synaptic currents in rut boutons were characterized by unusually large temporal dispersion and a seasonal variation in the amount of transmitter release, with diminished synaptic currents in summer months. Experiments with different rearing temperatures revealed that high temperature (29-30°C) decreased synaptic transmission in rut, but did not alter dnc and wild-type (WT). Importantly, the large temporal dispersion and abnormal temperature dependence of synaptic transmission, characteristic of rut, still persisted in dnc rut double mutants. To interpret these results in a proper perspective, we reviewed previously documented differential effects of dnc and rut mutations and their genetic interactions in double mutants on a variety of physiological and behavioral phenotypes. The cases of rescue in double mutants are associated with gradual developmental and maintenance processes whereas many behavioral and physiological manifestations on faster time scales could not be rescued. We discuss

  1. Effect of vanillin via olfactory pathway on repetitive stereotyped behavior in autistic rats%香草醛吸嗅对自闭症大鼠重复性刻板行为的影响及机制

    Institute of Scientific and Technical Information of China (English)

    阮元; 高晓平; 李光武; 桑婷婷

    2015-01-01

    目的 观察香草醛吸嗅对自闭症大鼠重复性刻板行为及脑内5-HT的影响,探讨其可能的作用机制.方法 根据Schneider和Przewlocki的方法制作丙戊酸钠(VPA)自闭症动物模型,SD大鼠怀孕第12.5天腹腔注射600 mg/kg VPA后所产下的子代雄鼠,根据子鼠睁眼时间、断乳时体质量、行为学表现监测,获得24只造模成功的自闭症模型雄鼠,随机分为香草醛组,模型对照组,每组12只;正常对照组为SD孕鼠同期腹腔注射等量9 g/L盐水后所产下的子代雄鼠12只,空白对照为SD孕鼠同期未予以特殊处理所产下的子代雄鼠12只.比较香草醛组,模型对照组、正常对照组、空白对照组在吸嗅前,吸嗅后1周,吸嗅后4周时重复性刻板行为差异,采用免疫组织化学检测各组大鼠杏仁核5-HT表达水平.结果 与治疗前比较,香草醛组治疗4周后重复性刻板行为[刻板时间(113.31±18.45)sw(250.52±13.25)s]明显减少(P<0.01),香草醛吸嗅明显提高大鼠5-HT杏仁核区表达[5-HT阳性神经元数(3.42±1.32)个vs (1.32±1.04)个,P<0.05].结论 香草醛吸嗅可以改善自闭症模型大鼠的重复性刻板行为,提高大鼠5-HT在杏仁核区的表达.%Objective To investigate the effect of vanillin via olfactory pathway on repetitive stereotyped behavior in autistic rats and its possible mechanism.Methods The model of autism was established by the single intraperitoneal injection of 600 mg/kg sodium valproate on day 12.5 of pregnant rats.Twenty-four autism animals were adopted according to the eye opening time,body mass and behavioral test.They were randomly divided into control group and vanillin group with 12 in each group,while the saline group rats as normal control group and the blank group rats as normal blank group.The repetitive stereotyped behavioral were examined in four groups of rats and the concentration of 5-HT in the amygdala was determined by immunohistochemical stainning.Results Compared with

  2. Ensemble statistical and subspace clustering model for analysis of autism spectrum disorder phenotypes.

    Science.gov (United States)

    Al-Jabery, Khalid; Obafemi-Ajayi, Tayo; Olbricht, Gayla R; Takahashi, T Nicole; Kanne, Stephen; Wunsch, Donald

    2016-08-01

    Heterogeneity in Autism Spectrum Disorder (ASD) is complex including variability in behavioral phenotype as well as clinical, physiologic, and pathologic parameters. The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) now diagnoses ASD using a 2-dimensional model based social communication deficits and fixated interests and repetitive behaviors. Sorting out heterogeneity is crucial for study of etiology, diagnosis, treatment and prognosis. In this paper, we present an ensemble model for analyzing ASD phenotypes using several machine learning techniques and a k-dimensional subspace clustering algorithm. Our ensemble also incorporates statistical methods at several stages of analysis. We apply this model to a sample of 208 probands drawn from the Simon Simplex Collection Missouri Site patients. The results provide useful evidence that is helpful in elucidating the phenotype complexity within ASD. Our model can be extended to other disorders that exhibit a diverse range of heterogeneity.

  3. Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders.

    Science.gov (United States)

    Harrison, Ashley J; Gamsiz, Ece D; Berkowitz, Isaac C; Nagpal, Shailender; Jerskey, Beth A

    2015-12-01

    Oxytocin regulates social behavior in animal models. Research supports an association between genetic variation in the oxytocin receptor gene (OXTR) and autism spectrum disorders (ASD). In this study, we examine the association between the OXTR gene and a specific social phenotype within ASD. This genotype-phenotype investigation may provide insight into how OXTR conveys risk for social impairment. The current study investigated 10 SNPS in the OXTR gene that have been previously shown to be associated with ASD. We examine the association of these SNPs with both a social phenotype and a repetitive behavior phenotype comprised of behaviors commonly impaired in ASD in the Simons simplex collection (SSC). Using a large sample to examine the association between OXTR and ASD (n = range: 485-1002), we find evidence to support a relation between two OXTR SNPs and the examined social phenotype among children diagnosed with ASD. Greater impairment on the social responsiveness scale standardized total score and on several subdomains was observed among individuals with one or more copies of the minor frequency allele in both rs7632287 and rs237884. Linkage disequilibrium (LD) mapping suggests that these two SNPs are in LD within and overlapping the 3' untranslated region (3'-UTR) of the OXTR gene. These two SNPs were also associated with greater impairment on the repetitive behavior scale. Results of this study indicate that social impairment and repetitive behaviors in ASD are associated with genomic variation in the 3'UTR of the OXTR gene. These variants may be linked to an allele that alters stability of the mRNA message although further work is necessary to test this hypothesis.

  4. Evidence that Behavioral Phenotypes of Morphine in β-arr2−/− Mice Are Due to the Unmasking of JNK Signaling

    Science.gov (United States)

    Mittal, Nitish; Tan, Miao; Egbuta, Onyemachi; Desai, Nina; Crawford, Cynthia; Xie, Cui-Wei; Evans, Christopher; Walwyn, Wendy

    2012-01-01

    The altered behavioral effects of morphine, but not most other mu agonists, in mice lacking β-arrestin 2, suggest that this scaffolding protein regulates the signaling cascade of this commonly used analgesic. One of the cascades that could be regulated by β-arrestin 2 is cJun-N-terminal kinase (JNK), which binds with β-arrestin 2 and modulates the analgesic effects of morphine. Using neurons lacking β-arrestin 2 (β-arr2−/−) to examine this interaction, we found that β-arr2−/− neurons show altered intracellular distribution of JNK and cJun, and that morphine, but not fentanyl, increased the nuclear localization of the phosphorylated, therefore activated, form of cJun, a JNK target in dorsal root ganglia neurons. This suggests that deleting β-arrestin 2 affects the JNK cascade. We therefore examined whether some of the behavioral phenotypes of mice lacking β-arrestin 2 could be a result of altered JNK signaling. Indeed, two different JNK inhibitors reversed the enhanced analgesic effect of morphine, a known phenotype of β-arr2−/− mice, to +/+ levels. Both the reduced locomotor effect of morphine and the psychomotor sensitization to repeated morphine administration in β-arr2−/− mice were also returned to +/+ levels by inhibiting JNK. In contrast, the behavioral effects of fentanyl were neither genotype-dependent nor affected by JNK inhibition. Furthermore, a PKC inhibitor had a similar effect as inhibiting JNK in reducing the enhanced analgesic effect of morphine in β-arr2−/− mice to +/+ levels. In summary, removing β-arrestin 2 reveals mu receptor activation of the JNK cascade in a ligand-specific manner explaining several behavioral phenotypes of β-arr2−/− mice. PMID:22491351

  5. Understanding maximal repetitions in strings

    CERN Document Server

    Crochemore, Maxime

    2008-01-01

    The cornerstone of any algorithm computing all repetitions in a string of length n in O(n) time is the fact that the number of runs (or maximal repetitions) is O(n). We give a simple proof of this result. As a consequence of our approach, the stronger result concerning the linearity of the sum of exponents of all runs follows easily.

  6. Perceptual Repetition Blindness Effects

    Science.gov (United States)

    Hochhaus, Larry; Johnston, James C.; Null, Cynthia H. (Technical Monitor)

    1994-01-01

    The phenomenon of repetition blindness (RB) may reveal a new limitation on human perceptual processing. Recently, however, researchers have attributed RB to post-perceptual processes such as memory retrieval and/or reporting biases. The standard rapid serial visual presentation (RSVP) paradigm used in most RB studies is, indeed, open to such objections. Here we investigate RB using a "single-frame" paradigm introduced by Johnston and Hale (1984) in which memory demands are minimal. Subjects made only a single judgement about whether one masked target word was the same or different than a post-target probe. Confidence ratings permitted use of signal detection methods to assess sensitivity and bias effects. In the critical condition for RB a precue of the post-target word was provided prior to the target stimulus (identity precue), so that the required judgement amounted to whether the target did or did not repeat the precue word. In control treatments, the precue was either an unrelated word or a dummy.

  7. Phenotypic and genetic relationships of feeding behavior with feed intake, growth performance, feed efficiency, and carcass merit traits in Angus and Charolais steers.

    Science.gov (United States)

    Chen, L; Mao, F; Crews, D H; Vinsky, M; Li, C

    2014-03-01

    Feeding behavior traits including daily feeding duration (FD), daily feeding head down time (HD), average feeding duration per feeding event (FD_AVE), average feeding head down time per feeding event (HD_AVE), feeding frequency (FF), and meal eating rate (ER) were analyzed to estimate their phenotypic and genetic correlations with feed intake, growth performance, residual feed intake (RFI), ultrasound, and carcass merit traits in Angus and Charolais finishing steers. Heritability estimates for FD, HD, FD_AVE, HD_AVE, FF, and ER were 0.27 ± 0.09 (SE), 0.25 ± 0.09, 0.19 ± 0.06, 0.11 ± 0.05, 0.24 ± 0.08, and 0.38 ± 0.10, respectively, in the Angus population and 0.49 ± 0.12, 0.38 ± 0.11, 0.31 ± 0.09, 0.29 ± 0.10, 0.43 ± 0.11, and 0.56 ± 0.13, respectively, in the Charolais population. In both the Angus and Charolais steer populations, FD and HD had relatively stronger phenotypic (0.17 ± 0.06 to 0.32 ± 0.04) and genetic (0.29 ± 0.17 to 0.54 ± 0.18) correlations with RFI in comparison to other feeding behavior traits investigated, suggesting the potential of FD and HD as indicators in assessing variation of RFI. In general, feeding behavior traits had weak phenotypic correlations with most of the ultrasound and carcass merit traits; however, estimated genetic correlations of the feeding behavior traits with some fat deposition related traits were moderate to moderately strong but differed in magnitude or sign between the Angus and Charolais steer populations, likely reflecting their different biological types. Genetic parameter estimation studies involving feeding behavior traits in beef cattle are lacking and more research is needed to better characterize the relationships between feeding behavior and feed intake, growth, feed utilization, and carcass merit traits, in particular with respect to different biological types of cattle.

  8. Repetitive grooming and sensorimotor abnormalities in an ephrin-A knockout model for Autism Spectrum Disorders.

    Science.gov (United States)

    Wurzman, Rachel; Forcelli, Patrick A; Griffey, Christopher J; Kromer, Lawrence F

    2015-02-01

    EphA receptors and ephrin-A ligands play important roles in neural development and synaptic plasticity in brain regions where expression persists into adulthood. Recently, EPHA3 and EPHA7 gene mutations were linked with Autism Spectrum Disorders (ASDs) and developmental neurological delays, respectively. Furthermore, deletions of ephrin-A2 or ephrin-A3, which exhibit high binding affinity for EphA3 and EphA7 receptors, are associated with subtle deficits in learning and memory behavior and abnormalities in dendritic spine morphology in the cortex and hippocampus in mice. To better characterize a potential role for these ligands in ASDs, we performed a comprehensive behavioral characterization of anxiety-like, sensorimotor, learning, and social behaviors in ephrin-A2/-A3 double knockout (DKO) mice. The predominant phenotype in DKO mice was repetitive and self-injurious grooming behaviors such as have been associated with corticostriatal circuit abnormalities in other rodent models of neuropsychiatric disorders. Consistent with ASDs specifically, DKO mice exhibited decreased preference for social interaction in the social approach assay, decreased locomotor activity in the open field, increased prepulse inhibition of acoustic startle, and a shift towards self-directed activity (e.g., grooming) in novel environments, such as marble burying. Although there were no gross deficits in cognitive assays, subtle differences in performance on fear conditioning and in the Morris water maze resembled traits observed in other rodent models of ASD. We therefore conclude that ephrin-A2/-A3 DKO mice have utility as a novel ASD model with an emphasis on sensory abnormalities and restricted, repetitive behavioral symptoms.

  9. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

    Science.gov (United States)

    Rogers, S J; Wehner, D E; Hagerman, R

    2001-12-01

    This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.

  10. Understanding Stress-Related Behavioral Phenotypes: Report from the 1st International Neuroscience Summer School and the 11th International “Stress and Behavior” Conference

    Directory of Open Access Journals (Sweden)

    J. L. LaPorte

    2008-01-01

    Full Text Available The 1st International Neuroscience Summer School and the 11th International Multidisciplinary Neuroscience and Biopsychiatry Conference on Stress and Behavior were held in St. Petersburg, Russia, during May 9–20, 2008. The summer school gathered 30 talented young scientists from 15 countries worldwide, and was dedicated to different topics of behavioral neuroscience. Many interactive courses were provided on neuropharmacology, animal phenotyping, and biopsychology. The conference's excellent scientific and social program attracted almost 500 delegates from 40 countries from many areas of stress research. The eclectic interaction between medical doctors, basic scientists, psychologists, and students made for a productive and collaborative environment, which contributed greatly to the success of the school and conference.

  11. Directed PCR-free engineering of highly repetitive DNA sequences

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    Preissler Steffen

    2011-09-01

    Full Text Available Abstract Background Highly repetitive nucleotide sequences are commonly found in nature e.g. in telomeres, microsatellite DNA, polyadenine (poly(A tails of eukaryotic messenger RNA as well as in several inherited human disorders linked to trinucleotide repeat expansions in the genome. Therefore, studying repetitive sequences is of biological, biotechnological and medical relevance. However, cloning of such repetitive DNA sequences is challenging because specific PCR-based amplification is hampered by the lack of unique primer binding sites resulting in unspecific products. Results For the PCR-free generation of repetitive DNA sequences we used antiparallel oligonucleotides flanked by restriction sites of Type IIS endonucleases. The arrangement of recognition sites allowed for stepwise and seamless elongation of repetitive sequences. This facilitated the assembly of repetitive DNA segments and open reading frames encoding polypeptides with periodic amino acid sequences of any desired length. By this strategy we cloned a series of polyglutamine encoding sequences as well as highly repetitive polyadenine tracts. Such repetitive sequences can be used for diverse biotechnological applications. As an example, the polyglutamine sequences were expressed as His6-SUMO fusion proteins in Escherichia coli cells to study their aggregation behavior in vitro. The His6-SUMO moiety enabled affinity purification of the polyglutamine proteins, increased their solubility, and allowed controlled induction of the aggregation process. We successfully purified the fusions proteins and provide an example for their applicability in filter retardation assays. Conclusion Our seamless cloning strategy is PCR-free and allows the directed and efficient generation of highly repetitive DNA sequences of defined lengths by simple standard cloning procedures.

  12. Impact of global warming at the range margins: phenotypic plasticity and behavioral thermoregulation will buffer an endemic amphibian.

    Science.gov (United States)

    Ruiz-Aravena, Manuel; Gonzalez-Mendez, Avia; Estay, Sergio A; Gaitán-Espitia, Juan D; Barria-Oyarzo, Ismael; Bartheld, José L; Bacigalupe, Leonardo D

    2014-12-01

    When dispersal is not an option to evade warming temperatures, compensation through behavior, plasticity, or evolutionary adaptation is essential to prevent extinction. In this work, we evaluated whether there is physiological plasticity in the thermal performance curve (TPC) of maximum jumping speed in individuals acclimated to current and projected temperatures and whether there is an opportunity for behavioral thermoregulation in the desert landscape where inhabits the northernmost population of the endemic frog Pleurodema thaul. Our results indicate that individuals acclimated to 20°C and 25°C increased the breath of their TPCs by shifting their upper limits with respect to when they were acclimated at 10°C. In addition, even when dispersal is not possible for this population, the landscape is heterogeneous enough to offer opportunities for behavioral thermoregulation. In particular, under current climatic conditions, behavioral thermoregulation is not compulsory as available operative temperatures are encompassed within the population TPC limits. However, for severe projected temperatures under climate change, behavioral thermoregulation will be required in the sunny patches. In overall, our results suggest that this population of Pleurodema thaul will be able to endure the worst projected scenario of climate warming as it has not only the physiological capacities but also the environmental opportunities to regulate its body temperature behaviorally.

  13. Investigation of gene effects and epistatic interactions between Akt1 and neuregulin 1 in the regulation of behavioral phenotypes and social functions in genetic mouse models of schizophrenia

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    Ching-Hsun eHuang

    2015-01-01

    Full Text Available Accumulating evidence from human genetic studies has suggested several functional candidate genes that might contribute to susceptibility to schizophrenia, including AKT1 and neuregulin 1 (NRG1. Recent findings also revealed that NRG1 stimulates the PI3-kinase/AKT signaling pathway, which might be involved in the functional outcomes of some schizophrenic patients. The aim of this study was to evaluate the effect of Akt1-deficiency and Nrg1-deficiency alone or in combination in the regulation of behavioral phenotypes, cognition, and social functions using genetically modified mice as a model. Male Akt1+/-, Nrg1+/-, and double mutant mice were bred and compared with their wild-type littermate controls. In experiment 1, general physical examination revealed that all mutant mice displayed a normal profile of body weight during development and a normal brain activity with microPET scan. In experiment 2, no significant genotypic differences were found in our basic behavioral phenotyping, including locomotion, anxiety-like behavior, and sensorimotor gating. However, both Nrg1+/- and double mutant mice exhibited impaired episodic-like memory. Double mutant mice also had impaired sociability. In experiment 3, a synergistic epistasis between Akt1 and Nrg1 was further confirmed in double mutant mice in that they had impaired social interaction compared to the other 3 groups, especially encountering with a novel male or an ovariectomized female. Double mutant and Nrg1+/- mice also emitted fewer female urine-induced ultrasonic vocalization calls. Collectively, our results indicate that double deficiency of Akt1 and Nrg1 can result in the impairment of social cognitive functions, which might be pertinent to the pathogenesis of schizophrenia-related social cognition.

  14. Repetition in English Political Public Speaking

    Institute of Scientific and Technical Information of China (English)

    李红梅

    2010-01-01

    Repetition is frequently used in English political public speaking to make it easy to be remembered and powerful to move the feelings of the public. This paper is intended to analyze the functions of repetition and different levels of repetition to highlight the significance of repetition in English political public speaking and the ability of using it in practice.

  15. The role of the area postrema in the anorectic effects of amylin and salmon calcitonin: behavioral and neuronal phenotyping.

    Science.gov (United States)

    Braegger, Fiona E; Asarian, Lori; Dahl, Kirsten; Lutz, Thomas A; Boyle, Christina N

    2014-10-01

    Amylin reduces meal size by activating noradrenergic neurons in the area postrema (AP). Neurons in the AP also mediate the eating-inhibitory effects of salmon calcitonin (sCT), a potent amylin agonist, but the phenotypes of the neurons mediating its effect are unknown. Here we investigated whether sCT activates similar neuronal populations to amylin, and if its anorectic properties also depend on AP function. Male rats underwent AP lesion (APX) or sham surgery. Meal patterns were analysed under ad libitum and post-deprivation conditions. The importance of the AP in mediating the anorectic action of sCT was examined in feeding experiments of dose-response effects of sCT in APX vs. sham rats. The effect of sCT to induce Fos expression was compared between surgery groups, and relative to amylin. The phenotype of Fos-expressing neurons in the brainstem was examined by testing for the co-expression of dopamine beta hydroxylase (DBH) or tryptophan hydroxylase (TPH). By measuring the apposition of vesicular glutamate transporter-2 (VGLUT2)-positive boutons, potential glutamatergic input to amylin- and sCT-activated AP neurons was compared. Similar to amylin, an intact AP was necessary for sCT to reduce eating. Further, co-expression between Fos activation and DBH after amylin or sCT did not differ markedly, while co-localization of Fos and TPH was minor. Approximately 95% of neurons expressing Fos and DBH after amylin or sCT treatment were closely apposed to VGLUT2-positive boutons. Our study suggests that the hindbrain pathways engaged by amylin and sCT share many similarities, including the mediation by AP neurons.

  16. Using Task Analytic Models and Phenotypes of Erroneous Human Behavior to Discover System Failures Using Model Checking.

    Science.gov (United States)

    Bolton, Matthew L; Bass, Ellen J

    2010-09-01

    Breakdowns in complex systems often occur as a result of system elements interacting in ways unanticipated by analysts or designers. In systems with human operators, human-automation interaction associated with both normative and erroneous human behavior can contribute to such failures. This paper presents a method for automatically generating task analytic models encompassing both erroneous and normative human behavior from normative task models. The resulting model can be integrated into a formal system model so that system safety properties can be formally verified with a model checker. This allows analysts to prove that a human automation-interactive system (as represented by the model) will or will not satisfy safety properties with both normative and generated erroneous human behavior. This method is illustrated with a case study: the operation of a radiation therapy machine. In this example, a problem resulting from a generated erroneous human action is discovered. Future extensions of our method are discussed.

  17. Grade repetition in primary school from teachers’ perspective

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    Malinić Dušica

    2011-01-01

    Full Text Available School underachievement is exhibited gradually, in different forms, while grade repetition figures as one of the most prominent forms of underachievement. In order to observe this phenomenon from different perspectives, we conducted a research aimed at identifying teacher attitudes towards grade repetition and grade repeaters in primary school, based on their perceptions of: (a the cause of grade repetition; (b the responsibility for grade repetition and (c grade repetition as an educational measure. The administered questionnaire was constructed for the purposes of the research, descriptive statistics was used, and data were obtained on the sample of 136 teachers from 31 primary schools from the territory of the City of Belgrade. The results point out to the conclusion that teachers perceive grade repetition as, first and foremost, the consequence of students’ lack of interest in school and learning and undisciplined behavior in class. By treating student underachievement mainly as a consequence of laziness, lack of motivation and insufficient effort, teachers transfer responsibility to others, assessing that the personal degree of responsibility for the underachievement of their students is very low. The responsibility for underachievement is perceived more as a problem of the student, his/her family, peer group, than as the problem of teachers themselves. The concluding part points out to certain teaching procedures and methods that have proved to be useful in the prevention of student underachievement.

  18. Towards high-throughput phenotyping of complex patterned behaviors in rodents: focus on mouse self-grooming and its sequencing.

    Science.gov (United States)

    Kyzar, Evan; Gaikwad, Siddharth; Roth, Andrew; Green, Jeremy; Pham, Mimi; Stewart, Adam; Liang, Yiqing; Kobla, Vikrant; Kalueff, Allan V

    2011-12-01

    Increasingly recognized in biological psychiatry, rodent self-grooming is a complex patterned behavior with evolutionarily conserved cephalo-caudal progression. While grooming is traditionally assessed by the latency, frequency and duration, its sequencing represents another important domain sensitive to various experimental manipulations. Such behavioral complexity requires novel objective approaches to quantify rodent grooming, in addition to time-consuming and highly variable manual observation. The present study combined modern behavior-recognition video-tracking technologies (CleverSys, Inc.) with manual observation to characterize in-depth spontaneous (novelty-induced) and artificial (water-induced) self-grooming in adult male C57BL/6J mice. We specifically focused on individual episodes of grooming (paw licking, head washing, body/leg washing, and tail/genital grooming), their duration and transitions between episodes. Overall, the frequency, duration and transitions detected using the automated approach significantly correlated with manual observations (R=0.51-0.7, pgrooming, also indicating that behavior-recognition tools can be applied to characterize both the amount and sequential organization (patterning) of rodent grooming. Together with further refinement and methodological advancement, this approach will foster high-throughput neurophenotyping of grooming, with multiple applications in drug screening and testing of genetically modified animals.

  19. Varianish: Jamming with Pattern Repetition

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    Jort Band

    2014-10-01

    Full Text Available In music, patterns and pattern repetition are often regarded as a machine-like task, indeed often delegated to drum Machines and sequencers. Nevertheless, human players add subtle differences and variations to repeated patterns that are musically interesting and often unique. Especially when looking at minimal music, pattern repetitions create hypnotic effects and the human mind blends out the actual pattern to focus on variation and tiny differences over time. Varianish is a musical instrument that aims at turning this phenomenon into a new musical experience for musician and audience: Musical pattern repetitions are found in live music and Varianish generates additional (musical output accordingly that adds substantially to the overall musical expression. Apart from the theory behind the pattern finding and matching and the conceptual design, a demonstrator implementation of Varianish is presented and evaluated.

  20. REPETITIVE CLUSTER-TILTED ALGEBRAS

    Institute of Scientific and Technical Information of China (English)

    Zhang Shunhua; Zhang Yuehui

    2012-01-01

    Let H be a finite-dimensional hereditary algebra over an algebraically closed field k and CFm be the repetitive cluster category of H with m ≥ 1.We investigate the properties of cluster tilting objects in CFm and the structure of repetitive clustertilted algebras.Moreover,we generalize Theorem 4.2 in [12](Buan A,Marsh R,Reiten I.Cluster-tilted algebra,Trans.Amer.Math.Soc.,359(1)(2007),323-332.) to the situation of CFm,and prove that the tilting graph KCFm of CFm is connected.

  1. Autism-like behavior in the BTBR mouse model of autism is improved by propofol.

    Science.gov (United States)

    Cai, Yulong; Wang, Lian; Xiao, Rui; Li, Xin; He, Xie; Gao, Junwei; Xu, Haiwei; Fan, Xiaotang

    2017-05-15

    Autism spectrum disorder (ASD) is a developmental disorder that is characterized by symptoms of impaired social interactions, restricted interests and repetitive behaviors. Recent studies in humans and animal-models suggest that reduced GABAergic neurotransmission in the brain may underlie autism-related behavioral symptoms. It has been shown that propofol, a commonly used anesthetic, facilitates γ-aminobutyric acid-mediated inhibitory synaptic transmission. The present study investigated whether propofol improved autistic phenotypes in BTBR T + Itpr3tf/J (BTBR) mice, a model of idiopathic autism. We found that i.p. injection of propofol in BTBR mice significantly improved aspects of social approach and repetitive behaviors without affecting reciprocal social interactions and without any detrimental effects in C57BL/6J mice. The ability of propofol to improve autistic phenotypes in BTBR mice through GABAergic neurotransmission suggests a potential pharmacological target for interventions to treat symptoms of autism. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Loss of phenotype of parvalbumin interneurons in rat prefrontal cortex is involved in antidepressant- and propsychotic-like behaviors following acute and repeated ketamine administration.

    Science.gov (United States)

    Zhou, ZhiQiang; Zhang, GuangFen; Li, XiaoMin; Liu, XiaoYu; Wang, Nan; Qiu, LiLi; Liu, WenXue; Zuo, ZhiYi; Yang, JianJun

    2015-04-01

    Accumulating evidence has demonstrated that single subanesthetic dose of ketamine exerts rapid, robust, and lasting antidepressant-like effects. Nevertheless, repeated subanesthetic doses of ketamine produce psychosis-like effects with dysfunction of parvalbumin (PV) interneurons. We hypothesized that PV interneurons play an important role in the antidepressant-like actions of ketamine, and different changes in PV interneurons occur with the antidepressant-like and propsychotic-like effects of ketamine. To test this hypothesis, ketamine's antidepressant-like effects were evaluated by the forced swimming test. Ketamine-induced stereotyped behaviors and hyperactivity actions and the function of PV interneurons were also assessed. We demonstrated that an acute dose of 10 mg/kg ketamine induced significant antidepressant-like effects and reduced the levels of PV and the gamma-aminobutyric acid (GABA)-producing enzyme GAD67 in the rat prefrontal cortex. Moreover, inhibition of ketamine-induced loss of PV by apocynin blocked these antidepressant-like effects. Repeated administration of 30 mg/kg ketamine elicited stereotyped behaviors and hyperactivity actions as well as a longer duration of PV and GAD67 loss, higher brain glutamate levels, and lower brain GABA levels than acute single dose of ketamine. Our results reveal that the loss of phenotype of PV interneurons in the prefrontal cortex contributes to the antidepressant-like actions and is also involved in the propsychotic-like behaviors following acute and repeated ketamine administration, which may be partially mediated by the disinhibition of glutamate signaling. The different degrees and durations of the actions on PV interneurons produced by the two regimens of ketamine may partly underline the behavioral variance between the antidepressant- and propsychotic-like effects.

  3. Distinct behavioral phenotypes in novel "fast" kindling-susceptible and "slow" kindling-resistant rat strains selected by stimulation of the hippocampal perforant path.

    Science.gov (United States)

    Langberg, Tomer; Dashek, Ryan; Mulvey, Bernard; Miller, Kimberly A; Osting, Susan; Stafstrom, Carl E; Sutula, Thomas P

    2016-01-01

    Kindling is a phenomenon of activity-dependent neural circuit plasticity induced by repeated seizures that results in progressive permanent increases in susceptibility to epilepsy. As the permanent structural and functional modifications induced by kindling include a diverse range of molecular, cellular, and functional alterations in neural circuits, it is of interest to determine if genetic background associated with seizure-induced plasticity might also influence plasticity in neural circuitry underlying other behaviors. Outbred Sprague-Dawley (SD) rats were selected and bred for ~15 generations for "fast' or "slow" rates of kindling development in response to stimulation of the perforant path input to the hippocampus. After 7-8 generations of selection and breeding, consistent phenotypes of "fast" and "slow" kindling rates were observed. By the 15th generation "fast" kindling rats referred to as Perforant Path Kindling Susceptible (PPKS) rats demonstrated a kindling rate of 10.7 ± 1.1 afterdischarges (ADs) to the milestone of the first secondary generalized (Class V) seizure, which differed significantly from "slow" kindling Perforant Path Kindling Resistant (PPKR) rats requiring 25.5 ± 2.0 ADs, and outbred SD rats requiring 16.8 ± 2.5 ADs (pkindling) strain with increased susceptibility to seizure-induced plasticity demonstrated statistically significant increases in motor exploratory activity in the open field test and reduced spatial learning the Morris water maze, but demonstrated normal fear conditioned learning comparable to outbred SD rats and the "slow" kindling-resistant PPKR strain. These results confirm that selection and breeding on the basis of responses to repeated pathway activation by stimulation can produce enduring modification of genetic background influencing behavior. These observations also suggest that genetic background underlying susceptibility or resistance to seizure-induced plasticity in hippocampal circuitry also differentially

  4. Repetitive elements in parasitic protozoa

    Directory of Open Access Journals (Sweden)

    Clayton Christine

    2010-05-01

    Full Text Available Abstract A recent paper published in BMC Genomics suggests that retrotransposition may be active in the human gut parasite Entamoeba histolytica. This adds to our knowledge of the various types of repetitive elements in parasitic protists and the potential influence of such elements on pathogenicity. See research article http://www.biomedcentral.com/1471-2164/11/321

  5. Brief Report: Repetitive Behaviours in Greek Individuals with Autism Spectrum Disorder

    Science.gov (United States)

    Georgiades, Stelios; Papageorgiou, Vaya; Anagnostou, Evdokia

    2010-01-01

    The main objective of this study was to examine the factor structure of restricted repetitive behaviours (RRBs) in a sample of 205 Greek individuals with Autism Spectrum Disorder (ASD), using the Repetitive Behavior Scale-Revised (RBS-R). Results show that the structure of RRBs in this Greek sample can be described using a 2-factor solution. The…

  6. Deficiency of schnurri-2, an MHC enhancer binding protein, induces mild chronic inflammation in the brain and confers molecular, neuronal, and behavioral phenotypes related to schizophrenia.

    Science.gov (United States)

    Takao, Keizo; Kobayashi, Katsunori; Hagihara, Hideo; Ohira, Koji; Shoji, Hirotaka; Hattori, Satoko; Koshimizu, Hisatsugu; Umemori, Juzoh; Toyama, Keiko; Nakamura, Hironori K; Kuroiwa, Mahomi; Maeda, Jun; Atsuzawa, Kimie; Esaki, Kayoko; Yamaguchi, Shun; Furuya, Shigeki; Takagi, Tsuyoshi; Walton, Noah M; Hayashi, Nobuhiro; Suzuki, Hidenori; Higuchi, Makoto; Usuda, Nobuteru; Suhara, Tetsuya; Nishi, Akinori; Matsumoto, Mitsuyuki; Ishii, Shunsuke; Miyakawa, Tsuyoshi

    2013-07-01

    Schnurri-2 (Shn-2), an nuclear factor-κB site-binding protein, tightly binds to the enhancers of major histocompatibility complex class I genes and inflammatory cytokines, which have been shown to harbor common variant single-nucleotide polymorphisms associated with schizophrenia. Although genes related to immunity are implicated in schizophrenia, there has been no study showing that their mutation or knockout (KO) results in schizophrenia. Here, we show that Shn-2 KO mice have behavioral abnormalities that resemble those of schizophrenics. The mutant brain demonstrated multiple schizophrenia-related phenotypes, including transcriptome/proteome changes similar to those of postmortem schizophrenia patients, decreased parvalbumin and GAD67 levels, increased theta power on electroencephalograms, and a thinner cortex. Dentate gyrus granule cells failed to mature in mutants, a previously proposed endophenotype of schizophrenia. Shn-2 KO mice also exhibited mild chronic inflammation of the brain, as evidenced by increased inflammation markers (including GFAP and NADH/NADPH oxidase p22 phox), and genome-wide gene expression patterns similar to various inflammatory conditions. Chronic administration of anti-inflammatory drugs reduced hippocampal GFAP expression, and reversed deficits in working memory and nest-building behaviors in Shn-2 KO mice. These results suggest that genetically induced changes in immune system can be a predisposing factor in schizophrenia.

  7. Genotype vs. Phenotype and the Rise of Non-Communicable Diseases: The Importance of Lifestyle Behaviors During Childhood.

    Science.gov (United States)

    Wu, Brian W; Skidmore, Paula M; Orta, Olivia R; Faulkner, James; Lambrick, Danielle; Signal, Leigh; Williams, Michelle A; Stoner, Lee

    2016-01-13

    Despite continued research and growing public awareness, the incidence of non-communicable diseases (NCD) continues to accelerate. While a person may have a genetic predisposition to certain NCDs, the rapidly changing epidemiology of NCDs points to the importance of environmental, social, and behavioural determinants of health. Specifically, three lifestyle behaviours expose children to important environmental cues and stressors: physical activity, nutritional intake, and sleep behaviour. Failure to expose children to proper gene-environment interactions, through the aforementioned lifestyle behaviours, can and will predispose children to the development of NCDs. Reengineering the environments of children can induce a paradigm shift, from a predominantly biomedical health model of treating symptomology, to a more holistic model based on encouraging appropriate behavioral decisions and optimal health.

  8. Just how happy is the happy puppet? An emotion signaling and kinship theory perspective on the behavioral phenotype of children with Angelman syndrome.

    Science.gov (United States)

    Brown, William M; Consedine, Nathan S

    2004-01-01

    The favored level of parental investment in a child may differ for genes of maternal and paternal origin in the child. This conflict can be expressed in the phenomenon of genomic imprinting that refers to situations in which the same gene is differentially expressed depending on its parent of origin. Two disorders that show the effects of genomic imprinting--both at 15q11-q13--are Angelman Syndrome (AS) which is due to the absence of expression of maternally-inherited genes and Prader-Willi syndromes (PWS) which is due to the absence of expression of paternally-inherited genes. However, although both disorders can arise from the deletion of the same genetic region, the gustatory, behavioral, and affective characteristics of AS and PWS children are remarkably distinct. Recent research inspired by kinship theory has suggested the origins of these phenotypic differences may lie in the differential investment of each parent's genome in the AS or PWS child. Specifically, it is thought that each set of parental genes have different 'ideas' regarding how the child should behave towards the mother and how much investment they should look to extract. In normal cases, the trade-off between the competing parental genomes produces a behavioral equilibrium in the child. However, in pathological instances, particularly where gene expression is one-sided, the evolved behavioral strategies favored by the contributing genome will dominate the child's behavior. To date, research in the area of genomic conflict in AS and PWS children has primarily focusing on differences in post-natal nutrition-related behaviors. The current paper extends this framework by offering an emotion and evolutionary signaling interpretation of the affective characteristics of AS children. A review of the affective characteristics of the two syndromes (PWS and AS) is presented before kinship and emotions theory are used to examine the functions that differential affect expression may serve in altering

  9. In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages.

    Science.gov (United States)

    Yang, Mu; Lewis, Freeman; Foley, Gillian; Crawley, Jacqueline N

    2015-07-01

    mutants together in one group cage, and only wildtype littermates together in another group cage after weaning. 16p11.2 deletion presented a particularly good model organism to investigate this question, because the heterozygotes are smaller than their wildtype littermates, and may therefore become subordinate to their larger cagemates.Wildtype and heterozygotes were housed with cagemates of the same genotype (same-genotype cage) or with cagemates of the opposite genotype (mixed-genotype cage). Current results replicated social vocalization and object recognition deficits that we previously found in heterozygotes living in mixed-genotype cages. In contrast, heterozygotes that lived in same-genotype cages emitted normal numbers of vocalizations during male–female interactions, and displayed normal novel object recognition, indicating that the deletion per se was not sufficient to cause cognitive or social deficits. Social approach, same-sex social interaction, anxiety-related behavior, depression-related behavior, and open field exploration were not different between genotypes, and were not affected by housing in mixed versus in same-genotype cages. These findings suggest that elements of the home cage social environment could interact with genotype to impact aspects of disease phenotypes. Current findings are discussed as potentially reflecting behavioral deficits resulted from social stress, as inspired by a seminal paper by Bob and Caroline Blanchard [1].

  10. Place field repetition and spatial learning in a multicompartment environment.

    Science.gov (United States)

    Grieves, Roddy M; Jenkins, Bryan W; Harland, Bruce C; Wood, Emma R; Dudchenko, Paul A

    2016-01-01

    Recent studies have shown that place cells in the hippocampus possess firing fields that repeat in physically similar, parallel environments. These results imply that it should be difficult for animals to distinguish parallel environments at a behavioral level. To test this, we trained rats on a novel odor-location task in an environment with four parallel compartments which had previously been shown to yield place field repetition. A second group of animals was trained on the same task, but with the compartments arranged in different directions, an arrangement we hypothesised would yield less place field repetition. Learning of the odor-location task in the parallel compartments was significantly impaired relative to learning in the radially arranged compartments. Fewer animals acquired the full discrimination in the parallel compartments compared to those trained in the radial compartments, and the former also required many more sessions to reach criterion compared to the latter. To confirm that the arrangement of compartments yielded differences in place cell repetition, in a separate group of animals we recorded from CA1 place cells in both environments. We found that CA1 place cells exhibited repeated fields across four parallel local compartments, but did not do so when the same compartments were arranged radially. To confirm that the differences in place field repetition across the parallel and radial compartments depended on their angular arrangement, and not incidental differences in access to an extra-maze visual landmark, we repeated the recordings in a second set of rats in the absence of the orientation landmark. We found, once again, that place fields showed repetition in parallel compartments, and did not do so in radially arranged compartments. Thus place field repetition, or lack thereof, in these compartments was not dependent on extra-maze cues. Together, these results imply that place field repetition constrains spatial learning.

  11. Neurobehavioral phenotyping of Gaq knockout mice reveals impairments in motor functions and spatial working memory without changes in anxiety or behavioral despair

    Directory of Open Access Journals (Sweden)

    Aliya L Frederick

    2012-06-01

    Full Text Available Many neurotransmitters, hormones and sensory stimuli elicit their cellular responses through the targeted activation of receptors coupled to Gq family heterotrimeric G proteins. Nevertheless, we still understand little about the consequences of loss of this signaling activity on brain function. We therefore examined the effects of genetic inactivation of Gnaq on responsiveness in a battery of behavioral tests in order to assess the contribution of Gaq signaling capacity in the brain circuits mediating expression of affective behaviors (anxiety and behavioral despair, spatial working memory and locomotor output (coordination, strength, spontaneous activity and drug-induced responses. First, we replicated and extended findings showing clear motor deficits in Gaq knockout mice as assessed on an accelerating rotarod and the inverted screen test. We then assessed the contribution of the basal ganglia motor loops to these impairments, using open field testing and analysis of drug-induced locomotor responses to the psychostimulant cocaine, the benzazepine D1 receptor agonists SKF83822 and SKF83959, and the NMDA receptor antagonist MK-801. We observed significant increases in drug-induced locomotor activity in Gaq knockout mice from the dopaminergic agonists but not MK-801, indicating that basal ganglia locomotor circuitry is largely intact in the absence of Gaq. Additionally, we observed normal phenotypes in both the elevated zero maze and the forced swim test indicating that anxiety and depression-related circuitry appears to be largely intact after loss of Gnaq expression. Lastly, use of the Y-maze revealed spatial memory deficits in Gaq knockout mice, indicating that receptors signaling through Gaq are necessary in these circuits for proficiency in this task.

  12. GABA(A) receptors in the pontine reticular formation of C57BL/6J mouse modulate neurochemical, electrographic, and behavioral phenotypes of wakefulness.

    Science.gov (United States)

    Flint, RaShonda R; Chang, Theresa; Lydic, Ralph; Baghdoyan, Helen A

    2010-09-15

    Drugs that potentiate transmission at GABA(A) receptors are widely used to enhance sleep and to cause general anesthesia. The mechanisms underlying these effects are unknown. This study tested the hypothesis that GABA(A) receptors in the pontine reticular nucleus, oral part (PnO) of mouse modulate five phenotypes of arousal: sleep and wakefulness, cortical electroencephalogram (EEG) activity, acetylcholine (ACh) release in the PnO, breathing, and recovery time from general anesthesia. Microinjections into the PnO of saline (vehicle control), the GABA(A) receptor agonist muscimol, muscimol with the GABA(A) receptor antagonist bicuculline, and bicuculline alone were performed in male C57BL/6J mice (n = 33) implanted with EEG recording electrodes. Muscimol caused a significant increase in wakefulness and decrease in rapid eye movement (REM) and non-REM (NREM) sleep. These effects were reversed by coadministration of bicuculline. Bicuculline administered alone caused a significant decrease in wakefulness and increase in NREM sleep and REM sleep. Muscimol significantly increased EEG power in the delta range (0.5-4 Hz) during wakefulness and in the theta range (4-9 Hz) during REM sleep. Dialysis delivery of bicuculline to the PnO of male mice (n = 18) anesthetized with isoflurane significantly increased ACh release in the PnO, decreased breathing rate, and increased anesthesia recovery time. All drug effects were concentration dependent. The effects on phenotypes of arousal support the conclusion that GABA(A) receptors in the PnO promote wakefulness and suggest that increasing GABAergic transmission in the PnO may be one mechanism underlying the phenomenon of paradoxical behavioral activation by some benzodiazepines.

  13. Individual differences in scanpaths correspond with serotonin transporter genotype and behavioral phenotype in rhesus monkeys (Macaca mulatta

    Directory of Open Access Journals (Sweden)

    Robert R Gibboni

    2009-11-01

    Full Text Available Scanpaths (the succession of fixations and saccades during spontaneous viewing contain information about the image but also about the viewer. To determine the viewer-dependent factors in the scanpaths of monkeys, we trained three adult males (Macaca mulatta to look for 3 s at images of conspecific facial expressions with either direct or averted gaze. The subjects showed significant differences on four basic scanpath parameters (number of fixations, fixation duration, saccade length, and total scanpath length when viewing the same facial expression/gaze direction combinations. Furthermore, we found differences between monkeys in feature preference and in the temporal order in which features were visited on different facial expressions. Overall, the between-subject variability was larger than the within- subject variability, suggesting that scanpaths reflect individual preferences in allocating visual attention to various features in aggressive, neutral, and appeasing facial expressions. Individual scanpath characteristics were brought into register with the genotype for the serotonin transporter regulatory gene (5-HTTLPR and with behavioral characteristics such as expression of anticipatory anxiety and impulsiveness/hesitation in approaching food in the presence of a potentially dangerous object.

  14. Cohesive Function of Lexical Repetition in Text

    Institute of Scientific and Technical Information of China (English)

    张莉; 卢沛沛

    2013-01-01

    Lexical repetition is the most direct form of lexical cohesion,which is the central device for making texts hang together. Although repetition is the most direct way to emphasize,it performs the cohesive effect more apparently.

  15. Mutations in AKAP5 disrupt dendritic signaling complexes and lead to electrophysiological and behavioral phenotypes in mice.

    Directory of Open Access Journals (Sweden)

    Michael Weisenhaus

    Full Text Available AKAP5 (also referred to as AKAP150 in rodents and AKAP79 in humans is a scaffolding protein that is highly expressed in neurons and targets a variety of signaling molecules to dendritic membranes. AKAP5 interacts with PKA holoenzymes containing RIIalpha or RIIbeta as well as calcineurin (PP2B, PKC, calmodulin, adenylyl cyclase type V/VI, L-type calcium channels, and beta-adrenergic receptors. AKAP5 has also been shown to interact with members of the MAGUK family of PSD-scaffolding proteins including PSD95 and SAP97 and target signaling molecules to receptors and ion channels in the postsynaptic density (PSD. We created two lines of AKAP5 mutant mice: a knockout of AKAP5 (KO and a mutant that lacks the PKA binding domain of AKAP5 (D36. We find that PKA is delocalized in both the hippocampus and striatum of KO and D36 mice indicating that other neural AKAPs cannot compensate for the loss of PKA binding to AKAP5. In AKAP5 mutant mice, a significant fraction of PKA becomes localized to dendritic shafts and this correlates with increased binding to microtubule associated protein-2 (MAP2. Electrophysiological and behavioral analysis demonstrated more severe deficits in both synaptic plasticity and operant learning in the D36 mice compared with the complete KO animals. Our results indicate that the targeting of calcineurin or other binding partners of AKAP5 in the absence of the balancing kinase, PKA, leads to a disruption of synaptic plasticity and results in learning and memory defects.

  16. Mapping pathological phenotypes in reelin mutant mice.

    Science.gov (United States)

    Michetti, Caterina; Romano, Emilia; Altabella, Luisa; Caruso, Angela; Castelluccio, Paolo; Bedse, Gaurav; Gaetani, Silvana; Canese, Rossella; Laviola, Giovanni; Scattoni, Maria Luisa

    2014-01-01

    Autism Spectrum Disorders (ASD) are neurodevelopmental disorders with multifactorial origin characterized by social communication deficits and the presence of repetitive behaviors/interests. Several studies showed an association between the reelin gene mutation and increased risk of ASD and a reduced reelin expression in some brain regions of ASD subjects, suggesting a role for reelin deficiency in ASD etiology. Reelin is a large extracellular matrix glycoprotein playing important roles during development of the central nervous system. To deeply investigate the role of reelin dysfunction as vulnerability factor in ASD, we assessed the behavioral, neurochemical, and brain morphological features of reeler male mice. We recently reported a genotype-dependent deviation in the ultrasonic vocal repertoire and a general delay in motor development of reeler pups. We now report that adult male heterozygous (Het) reeler mice did not show social behavior and communication deficits during male-female social interactions. Wildtype and Het mice showed a typical light/dark locomotor activity profile, with a peak during the central interval of the dark phase. However, when faced with a mild stressful stimulus (a saline injection) only Het mice showed an over response to stress. In addition to the behavioral studies, we conducted high performance liquid chromatography and magnetic resonance imaging and spectroscopy to investigate whether reelin mutation influences brain monoamine and metabolites levels in regions involved in ASD. Low levels of dopamine in cortex and high levels of glutamate and taurine in hippocampus were detected in Het mice, in line with clinical data collected on ASD children. Altogether, our data detected subtle but relevant neurochemical abnormalities in reeler mice supporting this mutant line, particularly male subjects, as a valid experimental model to estimate the contribution played by reelin deficiency in the global ASD neurobehavioral phenotype.

  17. Repetition priming-induced changes in sensorimotor transmission.

    Science.gov (United States)

    Svensson, Erik; Evans, Colin G; Cropper, Elizabeth C

    2016-03-01

    When a behavior is repeated performance often improves, i.e., repetition priming occurs. Although repetition priming is ubiquitous, mediating mechanisms are poorly understood. We address this issue in the feeding network ofAplysia Similar to the priming observed elsewhere, priming inAplysiais stimulus specific, i.e., it can be either "ingestive" or "egestive." Previous studies demonstrated that priming alters motor and premotor activity. Here we sought to determine whether sensorimotor transmission is also modified. We report that changes in sensorimotor transmission do occur. We ask how they are mediated and obtain data that strongly suggest a presynaptic mechanism that involves changes in the "background" intracellular Ca(2+)concentration ([Ca(2+)]i) in primary afferents themselves. This form of plasticity has previously been described and generated interest due to its potentially graded nature. Manipulations that alter the magnitude of the [Ca(2+)]iimpact the efficacy of synaptic transmission. It is, however, unclear how graded control is exerted under physiologically relevant conditions. In the feeding system changes in the background [Ca(2+)]iare mediated by the induction of a nifedipine-sensitive current. We demonstrate that the extent to which this current is induced is altered by peptides (i.e., increased by a peptide released during the repetition priming of ingestive activity and decreased by a peptide released during the repetition priming of egestive activity). We suggest that this constitutes a behaviorally relevant mechanism for the graded control of synaptic transmission via the regulation of the [Ca(2+)]iin a neuron.

  18. Biolog phenotype microarrays.

    Science.gov (United States)

    Shea, April; Wolcott, Mark; Daefler, Simon; Rozak, David A

    2012-01-01

    Phenotype microarrays nicely complement traditional genomic, transcriptomic, and proteomic analysis by offering opportunities for researchers to ground microbial systems analysis and modeling in a broad yet quantitative assessment of the organism's physiological response to different metabolites and environments. Biolog phenotype assays achieve this by coupling tetrazolium dyes with minimally defined nutrients to measure the impact of hundreds of carbon, nitrogen, phosphorous, and sulfur sources on redox reactions that result from compound-induced effects on the electron transport chain. Over the years, we have used Biolog's reproducible and highly sensitive assays to distinguish closely related bacterial isolates, to understand their metabolic differences, and to model their metabolic behavior using flux balance analysis. This chapter describes Biolog phenotype microarray system components, reagents, and methods, particularly as they apply to bacterial identification, characterization, and metabolic analysis.

  19. Circuit considerations for repetitive railguns

    Energy Technology Data Exchange (ETDEWEB)

    Honih, E.M.

    1986-01-01

    Railgun electromagnetic launchers have significant military and scientific potential. They provide direct conversion of electrical energy to projectile kinetic energy, and they offer the hope of achieving projectile velocities greatly exceeding the limits of conventional guns. With over 10 km/sec already demonstrated, railguns are attracting attention for tactical and strategic weapons systems and for scientific equation-of-state research. The full utilization of railguns will require significant improvements in every aspect of system design - projectile, barrel, and power source - to achieve operation on a large scale. This paper will review fundamental aspects of railguns, with emphasis on circuit considerations and repetitive operation.

  20. The neural correlates of picture naming facilitated by auditory repetition

    Directory of Open Access Journals (Sweden)

    Heath Shiree

    2012-02-01

    Full Text Available Abstract Background Overt repetition of auditorily presented words can facilitate picture naming performance in both unimpaired speakers and individuals with word retrieval difficulties, but the underlying neurocognitive mechanisms and longevity of such effects remain unclear. This study used functional magnetic resonance imaging to examine whether different neurological mechanisms underlie short-term (within minutes and long-term (within days facilitation effects from an auditory repetition task in healthy older adults. Results The behavioral results showed that both short- and long-term facilitated items were named significantly faster than unfacilitated items, with short-term items significantly faster than long-term items. Neuroimaging analyses identified a repetition suppression effect for long-term facilitated items, relative to short-term facilitated and unfacilitated items, in regions known to be associated with both semantic and phonological processing. A repetition suppression effect was also observed for short-term facilitated items when compared to unfacilitated items in a region of the inferior temporal lobe linked to semantic processing and object recognition, and a repetition enhancement effect when compared to long-term facilitated items in a posterior superior temporal region associated with phonological processing. Conclusions These findings suggest that different neurocognitive mechanisms underlie short- and long-term facilitation of picture naming by an auditory repetition task, reflecting both phonological and semantic processing. More specifically, the brain areas engaged were consistent with the view that long-term facilitation may be driven by a strengthening of semantic-phonological connections. Short-term facilitation, however, appears to result in more efficient semantic processing and/or object recognition, possibly in conjunction with active recognition of the phonological form.

  1. Repetitive Daily Blindness with Hemiplegic Migraine and SCN1A Mutations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-05-01

    Full Text Available Two novel SCN1A mutations are identified in two unrelated families with familial hemiplegic migraine and a unique phenotype of elicited repetitive daily blindness, in a report from Hopital Lariboisiere, and other centers in Paris, France, and Geneva, Switzerland.

  2. Mouse phenotyping.

    Science.gov (United States)

    Fuchs, Helmut; Gailus-Durner, Valérie; Adler, Thure; Aguilar-Pimentel, Juan Antonio; Becker, Lore; Calzada-Wack, Julia; Da Silva-Buttkus, Patricia; Neff, Frauke; Götz, Alexander; Hans, Wolfgang; Hölter, Sabine M; Horsch, Marion; Kastenmüller, Gabi; Kemter, Elisabeth; Lengger, Christoph; Maier, Holger; Matloka, Mikolaj; Möller, Gabriele; Naton, Beatrix; Prehn, Cornelia; Puk, Oliver; Rácz, Ildikó; Rathkolb, Birgit; Römisch-Margl, Werner; Rozman, Jan; Wang-Sattler, Rui; Schrewe, Anja; Stöger, Claudia; Tost, Monica; Adamski, Jerzy; Aigner, Bernhard; Beckers, Johannes; Behrendt, Heidrun; Busch, Dirk H; Esposito, Irene; Graw, Jochen; Illig, Thomas; Ivandic, Boris; Klingenspor, Martin; Klopstock, Thomas; Kremmer, Elisabeth; Mempel, Martin; Neschen, Susanne; Ollert, Markus; Schulz, Holger; Suhre, Karsten; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Hrabě de Angelis, Martin

    2011-02-01

    Model organisms like the mouse are important tools to learn more about gene function in man. Within the last 20 years many mutant mouse lines have been generated by different methods such as ENU mutagenesis, constitutive and conditional knock-out approaches, knock-down, introduction of human genes, and knock-in techniques, thus creating models which mimic human conditions. Due to pleiotropic effects, one gene may have different functions in different organ systems or time points during development. Therefore mutant mouse lines have to be phenotyped comprehensively in a highly standardized manner to enable the detection of phenotypes which might otherwise remain hidden. The German Mouse Clinic (GMC) has been established at the Helmholtz Zentrum München as a phenotyping platform with open access to the scientific community (www.mousclinic.de; [1]). The GMC is a member of the EUMODIC consortium which created the European standard workflow EMPReSSslim for the systemic phenotyping of mouse models (http://www.eumodic.org/[2]). Copyright © 2010 Elsevier Inc. All rights reserved.

  3. Improved Discrimination of Visual Stimuli Following Repetitive Transcranial Magnetic Stimulation

    OpenAIRE

    Waterston, Michael L.; Pack, Christopher C.

    2010-01-01

    BACKGROUND: Repetitive transcranial magnetic stimulation (rTMS) at certain frequencies increases thresholds for motor-evoked potentials and phosphenes following stimulation of cortex. Consequently rTMS is often assumed to introduce a "virtual lesion" in stimulated brain regions, with correspondingly diminished behavioral performance. METHODOLOGY/PRINCIPAL FINDINGS: Here we investigated the effects of rTMS to visual cortex on subjects' ability to perform visual psychophysical tasks. Contrary t...

  4. Chewed out: an experimental link between food material properties and repetitive loading of the masticatory apparatus in mammals

    Directory of Open Access Journals (Sweden)

    Matthew J. Ravosa

    2015-11-01

    Full Text Available Using a model organism (rabbits that resembles a number of mammalian herbivores in key aspects of its chewing behaviors, we examined how variation in dietary mechanical properties affects food breakdown during mastication. Such data have implications for understanding phenotypic variation in the mammalian feeding apparatus, particularly with respect to linking jaw form to diet-induced repetitive loading. Results indicate that chewing frequency (chews/s is independent of food properties, whereas chewing investment (chews/g and chewing duration(s, which are proportional to repetitive loading of the jaws, are positively related to food stiffness and toughness. In comparisons of displacement-limited and stress-limited fragmentation indices, which respectively characterize the intraoral breakdown of tough and stiff foods, increases in chewing investment and duration are linked solely to stiffness. This suggests that stiffer foods engender higher peak loads and increased cyclical loading. Our findings challenge conventional wisdom by demonstrating that toughness does not, by itself, underlie increases in cyclical loading and loading duration. Instead, tough foods may be associated with such jaw-loading patterns because they must be processed in greater volumes owing to their lower nutritive quality and for longer periods of time to increase oral exposure to salivary chemicals.

  5. Digital repetitive control under varying frequency conditions

    OpenAIRE

    Ramos Fuentes, Germán Andrés

    2012-01-01

    The tracking/rejection of periodic signals constitutes a wide field of research in the control theory and applications area and Repetitive Control has proven to be an efficient way to face this topic; however, in some applications the period of the signal to be tracked/rejected changes in time or is uncertain, which causes and important performance degradation in the standard repetitive controller. This thesis presents some contributions to the open topic of repetitive control workin...

  6. Pressure rig for repetitive casting

    Science.gov (United States)

    Vasquez, Peter (Inventor); Hutto, William R. (Inventor); Philips, Albert R. (Inventor)

    1989-01-01

    The invention is a pressure rig for repetitive casting of metal. The pressure rig performs like a piston for feeding molten metal into a mold. Pressure is applied to an expandable rubber diaphragm which expands like a balloon to force the metal into the mold. A ceramic cavity which holds molten metal is lined with blanket-type insulating material, necessitating only a relining for subsequent use and eliminating the lengthy cavity preparation inherent in previous rigs. In addition, the expandable rubber diaphragm is protected by the insulating material thereby decreasing its vulnerability to heat damage. As a result of the improved design the life expectancy of the pressure rig contemplated by the present invention is more than doubled. Moreover, the improved heat protection has allowed the casting of brass and other alloys with higher melting temperatures than possible in the conventional pressure rigs.

  7. Repetitive sequences in plant nuclear DNA: types, distribution, evolution and function.

    Science.gov (United States)

    Mehrotra, Shweta; Goyal, Vinod

    2014-08-01

    Repetitive DNA sequences are a major component of eukaryotic genomes and may account for up to 90% of the genome size. They can be divided into minisatellite, microsatellite and satellite sequences. Satellite DNA sequences are considered to be a fast-evolving component of eukaryotic genomes, comprising tandemly-arrayed, highly-repetitive and highly-conserved monomer sequences. The monomer unit of satellite DNA is 150-400 base pairs (bp) in length. Repetitive sequences may be species- or genus-specific, and may be centromeric or subtelomeric in nature. They exhibit cohesive and concerted evolution caused by molecular drive, leading to high sequence homogeneity. Repetitive sequences accumulate variations in sequence and copy number during evolution, hence they are important tools for taxonomic and phylogenetic studies, and are known as "tuning knobs" in the evolution. Therefore, knowledge of repetitive sequences assists our understanding of the organization, evolution and behavior of eukaryotic genomes. Repetitive sequences have cytoplasmic, cellular and developmental effects and play a role in chromosomal recombination. In the post-genomics era, with the introduction of next-generation sequencing technology, it is possible to evaluate complex genomes for analyzing repetitive sequences and deciphering the yet unknown functional potential of repetitive sequences. Copyright © 2014 The Authors. Production and hosting by Elsevier Ltd.. All rights reserved.

  8. Global phenotypic characterization of bacteria.

    Science.gov (United States)

    Bochner, Barry R

    2009-01-01

    The measure of the quality of a systems biology model is how well it can reproduce and predict the behaviors of a biological system such as a microbial cell. In recent years, these models have been built up in layers, and each layer has been growing in sophistication and accuracy in parallel with a global data set to challenge and validate the models in predicting the content or activities of genes (genomics), proteins (proteomics), metabolites (metabolomics), and ultimately cell phenotypes (phenomics). This review focuses on the latter, the phenotypes of microbial cells. The development of Phenotype MicroArrays, which attempt to give a global view of cellular phenotypes, is described. In addition to their use in fleshing out and validating systems biology models, there are many other uses of this global phenotyping technology in basic and applied microbiology research, which are also described.

  9. Global phenotypic characterization of bacteria

    Science.gov (United States)

    Bochner, Barry R

    2009-01-01

    The measure of the quality of a systems biology model is how well it can reproduce and predict the behaviors of a biological system such as a microbial cell. In recent years, these models have been built up in layers, and each layer has been growing in sophistication and accuracy in parallel with a global data set to challenge and validate the models in predicting the content or activities of genes (genomics), proteins (proteomics), metabolites (metabolomics), and ultimately cell phenotypes (phenomics). This review focuses on the latter, the phenotypes of microbial cells. The development of Phenotype MicroArrays, which attempt to give a global view of cellular phenotypes, is described. In addition to their use in fleshing out and validating systems biology models, there are many other uses of this global phenotyping technology in basic and applied microbiology research, which are also described. PMID:19054113

  10. Comparing repetition-based melody segmentation models

    NARCIS (Netherlands)

    Rodríguez López, M.E.; de Haas, Bas; Volk, Anja

    2014-01-01

    This paper reports on a comparative study of computational melody segmentation models based on repetition detection. For the comparison we implemented five repetition-based segmentation models, and subsequently evaluated their capacity to automatically find melodic phrase boundaries in a corpus of 2

  11. Task Repetition and Second Language Speech Processing

    Science.gov (United States)

    Lambert, Craig; Kormos, Judit; Minn, Danny

    2017-01-01

    This study examines the relationship between the repetition of oral monologue tasks and immediate gains in L2 fluency. It considers the effect of aural-oral task repetition on speech rate, frequency of clause-final and midclause filled pauses, and overt self-repairs across different task types and proficiency levels and relates these findings to…

  12. Repetitions: A Cross-Cultural Study.

    Science.gov (United States)

    Murata, Kumiko

    1995-01-01

    This study investigated how repetition is used in conversation among native speakers of British English, native speakers of Japanese, and Japanese speakers of English. Five interactional functions of repetition (interruption-orientated, solidarity, silence-avoidance, hesitation, and reformulation) were identified, as well as the cultural factors…

  13. Digital repetitive control under varying frequency conditions

    CERN Document Server

    Ramos, Germán A; Olm, Josep M

    2013-01-01

    The tracking/rejection of periodic signals constitutes a wide field of research in the control theory and applications area. Repetitive Control has proven to be an efficient way to face this topic. However, in some applications the frequency of the reference/disturbance signal is time-varying or uncertain. This causes an important performance degradation in the standard Repetitive Control scheme. This book presents some solutions to apply Repetitive Control in varying frequency conditions without loosing steady-state performance. It also includes a complete theoretical development and experimental results in two representative systems. The presented solutions are organized in two complementary branches: varying sampling period Repetitive Control and High Order Repetitive Control. The first approach allows dealing with large range frequency variations while the second allows dealing with small range frequency variations. The book also presents applications of the described techniques to a Roto-magnet plant and...

  14. Strategies for Using Repetition as a Powerful Teaching Tool

    Science.gov (United States)

    Saville, Kirt

    2011-01-01

    Brain research indicates that repetition is of vital importance in the learning process. Repetition is an especially useful tool in the area of music education. The success of repetition can be enhanced by accurate and timely feedback. From "simple repetition" to "repetition with the addition or subtraction of degrees of freedom," there are many…

  15. Strategies for Using Repetition as a Powerful Teaching Tool

    Science.gov (United States)

    Saville, Kirt

    2011-01-01

    Brain research indicates that repetition is of vital importance in the learning process. Repetition is an especially useful tool in the area of music education. The success of repetition can be enhanced by accurate and timely feedback. From "simple repetition" to "repetition with the addition or subtraction of degrees of freedom," there are many…

  16. Repetition priming from moving faces.

    Science.gov (United States)

    Lander, Karen; Bruce, Vicki

    2004-06-01

    Recent experiments have suggested that seeing a familiar face move provides additional dynamic information to the viewer, useful in the recognition of identity. In four experiments, repetition priming was used to investigate whether dynamic information is intrinsic to the underlying face representations. The results suggest that a moving image primes more effectively than a static image, even when the same static image is shown in the prime and the test phases (Experiment 1). Furthermore, when moving images are presented in the test phase (Experiment 2), there is an advantage for moving prime images. The most priming advantage is found with naturally moving faces, rather than with those shown in slow motion (Experiment 3). Finally, showing the same moving sequence at prime and test produced more priming than that found when different moving sequences were shown (Experiment 4). The results suggest that dynamic information is intrinsic to the face representations and that there is an advantage to viewing the same moving sequence at prime and test.

  17. The Clinical Effect of Low Frequency Repetitive Transcranial Magnetic Stimulation combined with Cognitive Behavioral Therapy in the Treatment of Adolescent Depression%经颅磁刺激联合认知行为疗法治疗青少年抑郁症的临床效果

    Institute of Scientific and Technical Information of China (English)

    王静; 杜红兴

    2016-01-01

    Objective:To study the efficacy of low frequency repetitive transcranial magnetic stimulation combined with cognitive behavioral therapy in the treatment of adolescent depression.Method:135 patients were selected in our hospital from January 2010 to December 2015,they were randomly divided into three groups,45 cases in each group.A group was given only antidepressant sertraline treatment,B group based on the sertraline treatment combined with repetitive transcranial magnetic stimulation treatment,C group based on the use of sertraline treatment combined with repetitive transcranial magnetic stimulation and cognitive behavioral therapy. Result:After treatment 4 weeks,the efficacy in group C was significantly better than that in group A and B (P<0.05),scores of HAMD changed from (28.16±3.95) scores to (17.92±9.86) scores,lower than that in group A and B.Scores of TSCS and PSP in group C were higher than that in other groups.Conclusion:Low frequency repetitive transcranial magnetic stimulation combined with cognitive behavior therapy provide an effective and well-tolerant treatment for depression.%目的:研究探讨重复低频经颅磁刺激联合认知行为疗法治疗青少年抑郁症的临床效果。方法:将2010年1月-2015年12月于本院精神科门诊就诊的患者共135例随机分为A、B、C三组,每组45例,其中A组仅用抗抑郁药物舍曲林治疗,B组在使用舍曲林治疗的基础上联合重复低频经颅磁刺激治疗,C组在使用舍曲林治疗的基础上联合重复低频经颅磁刺激和认知行为疗法。结果:治疗4周后,C组的治疗效果明显优于A、B两组(P<0.05)。C组的HAMD评分从(28.16±3.95)分降至(17.92±9.86)分,显著低于A、B两组,TSCS评分和PSP评分均高于A、B两组。结论:重复低频经颅磁刺激联合认知行为疗法是治疗抑郁症的安全有效的方法。

  18. A Case Study of the Reduction of Aberrant, Repetitive Responses of an Adolescent with Autism.

    Science.gov (United States)

    Gunter, Philip L.; And Others

    1993-01-01

    In this case study, music was applied noncontingently and contingently across four settings with an adolescent male with autism, to reduce aberrant, repetitive vocalizations. The intervention was associated with dramatic reductions in the primary aberrant behavior and reductions in two other aberrant behaviors. Task performance was differentially…

  19. Face repetition detection and social interest: An ERP study in adults with and without Williams syndrome.

    Science.gov (United States)

    Key, Alexandra P; Dykens, Elisabeth M

    2016-12-01

    The present study examined possible neural mechanisms underlying increased social interest in persons with Williams syndrome (WS). Visual event-related potentials (ERPs) during passive viewing were used to compare incidental memory traces for repeated vs. single presentations of previously unfamiliar social (faces) and nonsocial (houses) images in 26 adults with WS and 26 typical adults. Results indicated that participants with WS developed familiarity with the repeated faces and houses (frontal N400 response), but only typical adults evidenced the parietal old/new effect (previously associated with stimulus recollection) for the repeated faces. There was also no evidence of exceptional salience of social information in WS, as ERP markers of memory for repeated faces vs. houses were not significantly different. Thus, while persons with WS exhibit behavioral evidence of increased social interest, their processing of social information in the absence of specific instructions may be relatively superficial. The ERP evidence of face repetition detection in WS was independent of IQ and the earlier perceptual differentiation of social vs. nonsocial stimuli. Large individual differences in ERPs of participants with WS may provide valuable information for understanding the WS phenotype and have relevance for educational and treatment purposes.

  20. Precision markedly attenuates repetitive lift capacity.

    Science.gov (United States)

    Collier, Brooke R; Holland, Laura; McGhee, Deirdre; Sampson, John A; Bell, Alison; Stapley, Paul J; Groeller, Herbert

    2014-01-01

    This study investigated the effect of precision on time to task failure in a repetitive whole-body manual handling task. Twelve participants were required to repetitively lift a box weighing 65% of their single repetition maximum to shoulder height using either precise or unconstrained box placement. Muscle activity, forces exerted at the ground, 2D body kinematics, box acceleration and psychophysical measures of performance were recorded until task failure was reached. With precision, time to task failure for repetitive lifting was reduced by 72%, whereas the duration taken to complete a single lift and anterior deltoid muscle activation increased by 39% and 25%, respectively. Yet, no significant difference was observed in ratings of perceived exertion or heart rate at task failure. In conclusion, our results suggest that when accuracy is a characteristic of a repetitive manual handling task, physical work capacity will decline markedly. The capacity to lift repetitively to shoulder height was reduced by 72% when increased accuracy was required to place a box upon a shelf. Lifting strategy and muscle activity were also modified, confirming practitioners should take into consideration movement precision when evaluating the demands of repetitive manual handling tasks.

  1. Repetitive Bibliographical Information in Relational Databases.

    Science.gov (United States)

    Brooks, Terrence A.

    1988-01-01

    Proposes a solution to the problem of loading repetitive bibliographic information in a microcomputer-based relational database management system. The alternative design described is based on a representational redundancy design and normalization theory. (12 references) (Author/CLB)

  2. Computer-Related Repetitive Stress Injuries

    Science.gov (United States)

    ... on the shoulder Epicondylitis: elbow soreness often called "tennis elbow" Ganglion cyst: swelling or lump in the wrist ... Bones, Muscles, and Joints Carpal Tunnel Syndrome Medial Epicondylitis Repetitive Stress Injuries Contact Us Print Resources Send ...

  3. Digital repetitive control under varying frequency conditions

    OpenAIRE

    Ramos Fuentes, Germán Andrés

    2012-01-01

    Premi extraordinari doctorat curs 2011-2012, àmbit d’Enginyeria Industrial The tracking/rejection of periodic signals constitutes a wide field of research in the control theory and applications area and Repetitive Control has proven to be an efficient way to face this topic; however, in some applications the period of the signal to be tracked/rejected changes in time or is uncertain, which causes and important performance degradation in the standard repetitive controller. This the...

  4. Repetitive elements dynamics in cell identity programming, maintenance and disease

    KAUST Repository

    Bodega, Beatrice

    2014-12-01

    The days of \\'junk DNA\\' seem to be over. The rapid progress of genomics technologies has been unveiling unexpected mechanisms by which repetitive DNA and in particular transposable elements (TEs) have evolved, becoming key issues in understanding genome structure and function. Indeed, rather than \\'parasites\\', recent findings strongly suggest that TEs may have a positive function by contributing to tissue specific transcriptional programs, in particular as enhancer-like elements and/or modules for regulation of higher order chromatin structure. Further, it appears that during development and aging genomes experience several waves of TEs activation, and this contributes to individual genome shaping during lifetime. Interestingly, TEs activity is major target of epigenomic regulation. These findings are shedding new light on the genome-phenotype relationship and set the premises to help to explain complex disease manifestation, as consequence of TEs activity deregulation.

  5. Repetitive transcranial magnetic stimulation in psychiatry

    Directory of Open Access Journals (Sweden)

    Biswa Ranjan Mishra

    2011-01-01

    Full Text Available Repetitive transcranial magnetic stimulation (rTMS is a non-invasive and relatively painless tool that has been used to study various cognitive functions as well as to understand the brain-behavior relationship in normal individuals as well as in those with various neuropsychiatric disorders. It has also been used as a therapeutic tool in various neuropsychiatric disorders because of its ability to specifically modulate distinct brain areas. Studies have shown that repeated stimulation at low frequency produces long-lasting inhibition, which is called as long-term depression, whereas repeated high-frequency stimulation can produce excitation through long-term potentiation. This paper reviews the current status of rTMS as an investigative and therapeutic modality in various neuropsychiatric disorders. It has been used to study the cortical and subcortical functions, neural plasticity and brain mapping in normal individuals and in various neuropsychiatric disorders. rTMS has been most promising in the treatment of depression, with an overall milder adverse effect profile compared with electroconvulsive therapy. In other neuropsychiatric disorders such as schizophrenia, mania, epilepsy and substance abuse, it has been found to be useful, although further studies are required to establish therapeutic efficacy. It appears to be ineffective in the treatment of obsessive compulsive disorder. There is a paucity of studies of efficacy and safety of rTMS in pediatric and geriatric population. Although it appears safe, further research is required to optimize its efficacy and reduce the side-effects. Magnetic seizure therapy, which involves producing seizures akin to electroconvulsive therapy, appears to be of comparable efficacy in the treatment of depression with less cognitive adverse effects.

  6. Forensic DNA phenotyping : Regulatory issues

    NARCIS (Netherlands)

    Koops, E.J.; Schellekens, M.H.M.

    2008-01-01

    Forensic DNA phenotyping is an interesting new investigation method: crime-scene DNA is analyzed to compose a description of the unknown suspect, including external and behavioral features, geographic origin and perhaps surname. This method is allowed in some countries but prohibited in a few

  7. Forensic DNA phenotyping : Regulatory issues

    NARCIS (Netherlands)

    Koops, E.J.; Schellekens, M.H.M.

    2008-01-01

    Forensic DNA phenotyping is an interesting new investigation method: crime-scene DNA is analyzed to compose a description of the unknown suspect, including external and behavioral features, geographic origin and perhaps surname. This method is allowed in some countries but prohibited in a few others

  8. Behaviorism

    National Research Council Canada - National Science Library

    Moore, J

    2011-01-01

    .... Watson proposed an alternative: classical S-R behaviorism. According to Watson, behavior was a subject matter in its own right, to be studied by the observational methods common to all sciences...

  9. Experimental repetitive quantum error correction.

    Science.gov (United States)

    Schindler, Philipp; Barreiro, Julio T; Monz, Thomas; Nebendahl, Volckmar; Nigg, Daniel; Chwalla, Michael; Hennrich, Markus; Blatt, Rainer

    2011-05-27

    The computational potential of a quantum processor can only be unleashed if errors during a quantum computation can be controlled and corrected for. Quantum error correction works if imperfections of quantum gate operations and measurements are below a certain threshold and corrections can be applied repeatedly. We implement multiple quantum error correction cycles for phase-flip errors on qubits encoded with trapped ions. Errors are corrected by a quantum-feedback algorithm using high-fidelity gate operations and a reset technique for the auxiliary qubits. Up to three consecutive correction cycles are realized, and the behavior of the algorithm for different noise environments is analyzed.

  10. Complex motivated behaviors for natural rewards following a binge-like regimen of morphine administration: mixed phenotypes of anhedonia and craving after short-term withdrawal

    Directory of Open Access Journals (Sweden)

    Yunjing eBai

    2014-02-01

    Full Text Available The anhedonia-like behaviors following about one-week withdrawal from morphine were examined in the present study. Male rats were pretreated with either a binge-like morphine paradigm or daily saline injection for 5 days. Three types of natural reward were used, food reward (2.5%, 4%, 15%, 30%, 40% and 60% sucrose solutions, social reward (male rat and sexual reward (estrous female rat. For each type of natural stimulus, consummatory behavior and motivational behaviors under varied testing conditions were investigated. The results showed that the morphine-treated rats significantly reduced their consumption of 2.5% sucrose solution during the 1-hour consumption testing and their operant responding for 15%, 30% and 40% sucrose solutions under a fixed ratio 1 (FR1 schedule. However, performance under a progressive ratio (PR schedule increased in morphine-treated rats reinforced with 60% sucrose solution, but not in those reinforced with sucrose concentrations lower than 60%. Pretreatment with morphine significantly decreased the male rats’ ejaculation frequency during the 1-hour copulation testing, and impaired the maintenance of appetitive motivations to sexual and social stimuli under a free-approach condition. Moreover, the morphine-treated rats demonstrated a diminished motivation to approach social stimulus in the effort-based appetitive behavior test but showed a remarkable increase in motivation to approach sexual stimulus in the risky appetitive behavior test. These results demonstrated some complex motivated behaviors following about one week of morphine withdrawal: (1 The anhedonia-like behavior was consistently found in animals withdrawn from morphine. However, for a given reward, there was often a dissociation of the consummatory behaviors from the motivational behaviors, and whether the consummatory or the motivational anhedonia-like behaviors could be discovered heavily depended on the type and magnitude of the reward and the type

  11. Experimental co-expression of vimentin and keratin intermediate filaments in human breast cancer cells results in phenotypic interconversion and increased invasive behavior.

    Science.gov (United States)

    Hendrix, M J; Seftor, E A; Seftor, R E; Trevor, K T

    1997-02-01

    The expression of intermediate filament proteins is remarkably tissue specific, which suggests that the intermediate filament type(s) present in cells is somehow related to their biological function. However, in some cancers, particularly malignant breast carcinoma, there is a strong indication that vimentin is co-expressed with keratins, thus presenting as a dedifferentiated or interconverted (between epithelial and mesenchymal) phenotype. In the present study, we recapitulated the interconverted phenotype by developing stable transfectants of MCF-7 human breast cancer cells, termed MoVi clones, to express both vimentin and keratins. Overexpression of vimentin in these cells led to augmentation of motility and invasiveness in vitra. These activities could be transiently down-regulated by vimentin antisense oligonucleotides in MoVi clones and MDA-MB-231 cells (which constitutively co-express keratins and vimentin). Furthermore, in the MoVi experimental transfectants expressing the highest percentage of vimentin-positive cells, their proliferative capacity, clonogenic potential, and tumorigenicity increased. However, the metastatic ability of the MoVi transfectants remained unchanged compared with MCF-7neo controls. The MDA-MB-231 cells metastasized to axillary lymph nodes in a SCID mouse model. Finally, we explored the possibility that potential changes could occur with respect to cell surface integrins. These studies revealed a decrease in the alpha 2- and alpha 3-containing promiscuous integrins, in addition to beta 1 containing integrins, concomitant with an increase in the alpha 6-containing laminin receptor integrin. Further functional analysis of the alpha 6 observation showed an increase in the baptotactic migration of MoVi transfectants toward a laminin substrate. From these data, it is postulated that the ability to co-express vimentin and keratins confers a selective advantage to breast cancer cells in their interpretation of signaling cues from the

  12. Likelihood methods and classical burster repetition

    CERN Document Server

    Graziani, C; Graziani, Carlo; Lamb, Donald Q

    1995-01-01

    We develop a likelihood methodology which can be used to search for evidence of burst repetition in the BATSE catalog, and to study the properties of the repetition signal. We use a simplified model of burst repetition in which a number N_{\\rm r} of sources which repeat a fixed number of times N_{\\rm rep} are superposed upon a number N_{\\rm nr} of non-repeating sources. The instrument exposure is explicitly taken into account. By computing the likelihood for the data, we construct a probability distribution in parameter space that may be used to infer the probability that a repetition signal is present, and to estimate the values of the repetition parameters. The likelihood function contains contributions from all the bursts, irrespective of the size of their positional errors --- the more uncertain a burst's position is, the less constraining is its contribution. Thus this approach makes maximal use of the data, and avoids the ambiguities of sample selection associated with data cuts on error circle size. We...

  13. Serial rapists and their victims: reenactment and repetition.

    Science.gov (United States)

    Burgess, A W; Hazelwood, R R; Rokous, F E; Hartman, C R; Burgess, A G

    1988-01-01

    The major finding in this study of 41 serial rapists is the large numbers of reported and unreported victims. For over 1200 attempted and completed rapes, there were 200 convictions. The hidden rapes or earliest nonreported victims of these men as boys and adolescents were identified from their families, their neighborhood, and their schools. Examining the possible link between childhood sexual abuse and criminal behavior in this sample of 41 serial rapists, 56.1% were judged to have at least one forced or exploitive abuse experience in boyhood, as compared to a study of 2,972 college males reporting 7.3% experiencing boyhood sexual abuse. Looking within the abused samples, 56.1% of the rapists reported forced sex, compared to the college sample's 30.4%. Also, the rapist sample revealed higher rates of family member as abuser (48.4%), compared to 22.2% for the college sample. Retrospective reconstruction of the sexual activities and assertive behaviors of these men as boys reveals that 51% of the boys reenact the abuse as a preadolescent with their earliest victims being known to them (48% as neighborhood girls), family (25% as sisters), or girlfriend (25%). The onset of rape fantasies in midadolescence (mean age 16.9) crystalizes the earlier sexually initiated behaviors into juvenile behaviors of spying, fetish burglaries, molestations, and rapes. Repetition of these juvenile behaviors set their criminal patters on strangers--their next group of victims. To reduce victimization, serial rapists need to be identified early and stopped. This means acknowledging and reporting boy sexual abuse. This includes being sensitive to the reenactment behaviors noted in the initiated activities of abused children, which in turn need to be differentiated from peer play. Closer attention needs to be paid to families with incest behavior to insure that younger children are protected. Adolescents showing early repetitive juvenile delinquent behaviors must be assessed for physical

  14. Repetitive speech elicits widespread deactivation in the human cortex: the “Mantra” effect?

    Science.gov (United States)

    Berkovich-Ohana, Aviva; Wilf, Meytal; Kahana, Roni; Arieli, Amos; Malach, Rafael

    2015-01-01

    Background Mantra (prolonged repetitive verbal utterance) is one of the most universal mental practices in human culture. However, the underlying neuronal mechanisms that may explain its powerful emotional and cognitive impact are unknown. In order to try to isolate the effect of silent repetitive speech, which is used in most commonly practiced Mantra meditative practices, on brain activity, we studied the neuronal correlates of simple repetitive speech in nonmeditators – that is, silent repetitive speech devoid of the wider context and spiritual orientations of commonly practiced meditation practices. Methods We compared, using blood oxygenated level-dependent (BOLD) functional magnetic resonance imaging (fMRI), a simple task of covertly repeating a single word to resting state activity, in 23 subjects, none of which practiced meditation before. Results We demonstrate that the repetitive speech was sufficient to induce a widespread reduction in BOLD signal compared to resting baseline. The reduction was centered mainly on the default mode network, associated with intrinsic, self-related processes. Importantly, contrary to most cognitive tasks, where cortical-reduced activation in one set of networks is typically complemented by positive BOLD activity of similar magnitude in other cortical networks, the repetitive speech practice resulted in unidirectional negative activity without significant concomitant positive BOLD. A subsequent behavioral study showed a significant reduction in intrinsic thought processes during the repetitive speech condition compared to rest. Conclusions Our results are compatible with a global gating model that can exert a widespread induction of negative BOLD in the absence of a corresponding positive activation. The triggering of a global inhibition by the minimally demanding repetitive speech may account for the long-established psychological calming effect associated with commonly practiced Mantra-related meditative practices. PMID

  15. Down Syndrome Cognitive Phenotypes Modeled in Mice Trisomic for All HSA 21 Homologues

    Science.gov (United States)

    Belichenko, Pavel V.; Kleschevnikov, Alexander M.; Becker, Ann; Wagner, Grant E.; Lysenko, Larisa V.; Yu, Y. Eugene; Mobley, William C.

    2015-01-01

    Down syndrome (DS), trisomy for chromosome 21, is the most common genetic cause of intellectual disability. The genomic regions on human chromosome 21 (HSA21) are syntenically conserved with regions on mouse chromosomes 10, 16, and 17 (Mmu10, Mmu16, and Mmu17). Recently, we created a genetic model of DS which carries engineered duplications of all three mouse syntenic regions homologous to HSA21. This ‘triple trisomic’ or TTS model thus represents the most complete and accurate murine model currently available for experimental studies of genotype-phenotype relationships in DS. Here we extended our initial studies of TTS mice. Locomotor activity, stereotypic and repetitive behavior, anxiety, working memory, long-term memory, and synaptic plasticity in the dentate gyrus were examined in the TTS and wild-type (WT) control mice. Changes in locomotor activity were most remarkable for a significant increase in ambulatory time and a reduction in average velocity of TTS mice. No changes were detected in repetitive and stereotypic behavior and in measures of anxiety. Working memory showed no changes when tested in Y-maze, but deficiency in a more challenging T-maze test was detected. Furthermore, long-term object recognition memory was significantly reduced in the TTS mice. These changes were accompanied by deficient long-term potentiation in the dentate gyrus, which was restored to the WT levels following blockade of GABAA receptors with picrotoxin (100 μM). TTS mice thus demonstrated a number of phenotypes characteristic of DS and may serve as a new standard by which to evaluate and direct findings in other less complete models of DS. PMID:26230397

  16. Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors.

    Science.gov (United States)

    Belinson, H; Nakatani, J; Babineau, B A; Birnbaum, R Y; Ellegood, J; Bershteyn, M; McEvilly, R J; Long, J M; Willert, K; Klein, O D; Ahituv, N; Lerch, J P; Rosenfeld, M G; Wynshaw-Boris, A

    2016-10-01

    Social interaction is a fundamental behavior in all animal species, but the developmental timing of the social neural circuit formation and the cellular and molecular mechanisms governing its formation are poorly understood. We generated a mouse model with mutations in two Disheveled genes, Dvl1 and Dvl3, that displays adult social and repetitive behavioral abnormalities associated with transient embryonic brain enlargement during deep layer cortical neuron formation. These phenotypes were mediated by the embryonic expansion of basal neural progenitor cells (NPCs) via deregulation of a β-catenin/Brn2/Tbr2 transcriptional cascade. Transient pharmacological activation of the canonical Wnt pathway during this period of early corticogenesis rescued the β-catenin/Brn2/Tbr2 transcriptional cascade and the embryonic brain phenotypes. Remarkably, this embryonic treatment prevented adult behavioral deficits and partially rescued abnormal brain structure in Dvl mutant mice. Our findings define a mechanism that links fetal brain development and adult behavior, demonstrating a fetal origin for social and repetitive behavior deficits seen in disorders such as autism.

  17. Hippocampal Y2 receptor-mediated mossy fiber plasticity is implicated in nicotine abstinence-related social anxiety-like behavior in an outbred rat model of the novelty-seeking phenotype.

    Science.gov (United States)

    Aydin, Cigdem; Oztan, Ozge; Isgor, Ceylan

    2014-10-01

    Experimentally naïve outbred rats display varying rates of locomotor reactivity in response to the mild stress of a novel environment. Namely, some display high rates (HR) whereas some display low rates (LR) of locomotor reactivity. Previous reports from our laboratory show that HRs, but not LRs, develop locomotor sensitization to a low dose nicotine challenge and exhibit increased social anxiety-like behavior following chronic intermittent nicotine training. Moreover, the hippocampus, specifically hippocampal Y2 receptor (Y2R)-mediated neuropeptide Y signaling is implicated in these nicotine-induced behavioral effects observed in HRs. The present study examines the structural substrates of the expression of locomotor sensitization to a low dose nicotine challenge and associated social anxiety-like behavior following chronic intermittent nicotine exposure during adolescence in the LRHR hippocampi. Our data showed that the expression of locomotor sensitization to the low dose nicotine challenge and the increase in social anxiety-like behavior were accompanied by an increase in mossy fiber terminal field size, as well as an increase in spinophilin mRNA levels in the hippocampus in nicotine pre-trained HRs compared to saline pre-trained controls. Furthermore, a novel, selective Y2R antagonist administered systemically during 1 wk of abstinence reversed the behavioral, molecular and neuromorphological effects observed in nicotine-exposed HRs. These results suggest that nicotine-induced neuroplasticity within the hippocampus may regulate abstinence-related negative affect in HRs, and implicate hippocampal Y2R in vulnerability to the behavioral and neuroplastic effects of nicotine in the novelty-seeking phenotype.

  18. Fenótipo comportamental de crianças e adolescentes com síndrome de Prader-Willi Behavioral phenotype of children and adolescents with Prader-Willi syndrome

    Directory of Open Access Journals (Sweden)

    Maria Luiza G. de Mesquita

    2010-03-01

    Full Text Available OBJETIVO: Identificar, em um grupo de crianças e adolescentes com síndrome de Prader-Willi, as principais características do fenótipo comportamental. MÉTODOS: A amostra foi composta por 11 crianças e adolescentes com diagnóstico clínico e citogenético-molecular da síndrome de Prader-Willi. A técnica de coleta de dados foi o Inventário dos Comportamentos de Crianças e Adolescentes entre 6 e 18 anos (CBCL/6-18. A análise de correlação bivariada, com nível de significância pOBJECTIVE: To identify the main characteristics of the behavioral phenotype of children and adolescents with Prader-Willi syndrome. METHODS: Eleven children and adolescents with clinical and cytogenetic-molecular diagnosis of Prader-Willi syndrome were studied. Data collection was obtained by the Child Behavior Checklist for Ages 6-18 (CBCL/6-18. Bivariate correlations were used to test the association between the analyzed variables, being significant p<0.05. RESULTS: The behavioral profile obtained was considered as clinical in different scales of the CBCL/6-18 tool. A behavioral pattern with high frequency of aggression, rule breaking and opposition was observed. Statistically significant correlations between attention and social problems and between thought problems and breaking rules were identified. CONCLUSIONS: The studied patients represent a group of psychiatric risk, with behavioral changes that, in the long-term, can lead to mood disorders, attention deficit hyperactivity disorder and oppositional defiant behavior, among other disorders

  19. Sources of Phoneme Errors in Repetition: Perseverative, Neologistic, and Lesion Patterns in Jargon Aphasia

    Directory of Open Access Journals (Sweden)

    Emma Pilkington

    2017-05-01

    Full Text Available This study examined patterns of neologistic and perseverative errors during word repetition in fluent Jargon aphasia. The principal hypotheses accounting for Jargon production indicate that poor activation of a target stimulus leads to weakly activated target phoneme segments, which are outcompeted at the phonological encoding level. Voxel-lesion symptom mapping studies of word repetition errors suggest a breakdown in the translation from auditory-phonological analysis to motor activation. Behavioral analyses of repetition data were used to analyse the target relatedness (Phonological Overlap Index: POI of neologistic errors and patterns of perseveration in 25 individuals with Jargon aphasia. Lesion-symptom analyses explored the relationship between neurological damage and jargon repetition in a group of 38 aphasia participants. Behavioral results showed that neologisms produced by 23 jargon individuals contained greater degrees of target lexico-phonological information than predicted by chance and that neologistic and perseverative production were closely associated. A significant relationship between jargon production and lesions to temporoparietal regions was identified. Region of interest regression analyses suggested that damage to the posterior superior temporal gyrus and superior temporal sulcus in combination was best predictive of a Jargon aphasia profile. Taken together, these results suggest that poor phonological encoding, secondary to impairment in sensory-motor integration, alongside impairments in self-monitoring result in jargon repetition. Insights for clinical management and future directions are discussed.

  20. Multiple sessions of low-frequency repetitive transcranial magnetic stimulation in focal hand dystonia

    DEFF Research Database (Denmark)

    Kimberley, Teresa Jacobson; Borich, Michael R; Arora, Sanjeev

    2013-01-01

    Purpose: The ability of low-frequency repetitive transcranial magnetic stimulation (rTMS) to enhance intracortical inhibition has motivated its use as a potential therapeutic intervention in focal hand dystonia (FHD). In this preliminary investigation, we assessed the physiologic and behavioral...

  1. Behaviorism

    Science.gov (United States)

    Moore, J.

    2011-01-01

    Early forms of psychology assumed that mental life was the appropriate subject matter for psychology, and introspection was an appropriate method to engage that subject matter. In 1913, John B. Watson proposed an alternative: classical S-R behaviorism. According to Watson, behavior was a subject matter in its own right, to be studied by the…

  2. Behaviorism

    Science.gov (United States)

    Moore, J.

    2011-01-01

    Early forms of psychology assumed that mental life was the appropriate subject matter for psychology, and introspection was an appropriate method to engage that subject matter. In 1913, John B. Watson proposed an alternative: classical S-R behaviorism. According to Watson, behavior was a subject matter in its own right, to be studied by the…

  3. Large-scale detection of repetitions.

    Science.gov (United States)

    Smyth, W F

    2014-05-28

    Combinatorics on words began more than a century ago with a demonstration that an infinitely long string with no repetitions could be constructed on an alphabet of only three letters. Computing all the repetitions (such as ∙∙∙TTT ∙∙∙ or ∙∙∙ CGACGA ∙∙∙ ) in a given string x of length n is one of the oldest and most important problems of computational stringology, requiring time in the worst case. About a dozen years ago, it was discovered that repetitions can be computed as a by-product of the Θ(n)-time computation of all the maximal periodicities or runs in x. However, even though the computation is linear, it is also brute force: global data structures, such as the suffix array, the longest common prefix array and the Lempel-Ziv factorization, need to be computed in a preprocessing phase. Furthermore, all of this effort is required despite the fact that the expected number of runs in a string is generally a small fraction of the string length. In this paper, I explore the possibility that repetitions (perhaps also other regularities in strings) can be computed in a manner commensurate with the size of the output.

  4. Verbal Repetitions and Echolalia in Alzheimer's Discourse

    Science.gov (United States)

    Da Cruz, Fernanda Miranda

    2010-01-01

    This article reports on an investigation of echolalic repetition in Alzheimer's disease (AD). A qualitative analysis of data from spontaneous conversations with MHI, a woman with AD, is presented. The data come from the DALI Corpus, a corpus of spontaneous conversations involving subjects with AD. This study argues that echolalic effects can be…

  5. Neurobehavioural Correlates of Abnormal Repetitive Behaviour

    Directory of Open Access Journals (Sweden)

    R. A. Ford

    1991-01-01

    Full Text Available Conditions in which echolalia and echopraxia occur are reviewed, followed by an attempt to elicit possible mechanisms of these phenomena. A brief description of stereotypical and perseverative behaviour and obsessional phenomena is given. It is suggested that abnormal repetitive behaviour may occur partly as a result of central dopaminergic dysfunction.

  6. Verbal Repetitions and Echolalia in Alzheimer's Discourse

    Science.gov (United States)

    Da Cruz, Fernanda Miranda

    2010-01-01

    This article reports on an investigation of echolalic repetition in Alzheimer's disease (AD). A qualitative analysis of data from spontaneous conversations with MHI, a woman with AD, is presented. The data come from the DALI Corpus, a corpus of spontaneous conversations involving subjects with AD. This study argues that echolalic effects can be…

  7. Phenotypic plasticity: molecular mechanisms and adaptive significance.

    Science.gov (United States)

    Kelly, Scott A; Panhuis, Tami M; Stoehr, Andrew M

    2012-04-01

    Phenotypic plasticity can be broadly defined as the ability of one genotype to produce more than one phenotype when exposed to different environments, as the modification of developmental events by the environment, or as the ability of an individual organism to alter its phenotype in response to changes in environmental conditions. Not surprisingly, the study of phenotypic plasticity is innately interdisciplinary and encompasses aspects of behavior, development, ecology, evolution, genetics, genomics, and multiple physiological systems at various levels of biological organization. From an ecological and evolutionary perspective, phenotypic plasticity may be a powerful means of adaptation and dramatic examples of phenotypic plasticity include predator avoidance, insect wing polymorphisms, the timing of metamorphosis in amphibians, osmoregulation in fishes, and alternative reproductive tactics in male vertebrates. From a human health perspective, documented examples of plasticity most commonly include the results of exercise, training, and/or dieting on human morphology and physiology. Regardless of the discipline, phenotypic plasticity has increasingly become the target of a plethora of investigations with the methodological approaches utilized ranging from the molecular to whole organsimal. In this article, we provide a brief historical outlook on phenotypic plasticity; examine its potential adaptive significance; emphasize recent molecular approaches that provide novel insight into underlying mechanisms, and highlight examples in fishes and insects. Finally, we highlight examples of phenotypic plasticity from a human health perspective and underscore the use of mouse models as a powerful tool in understanding the genetic architecture of phenotypic plasticity.

  8. Phenotypic deconstruction of gene circuitry.

    Science.gov (United States)

    Lomnitz, Jason G; Savageau, Michael A

    2013-06-01

    It remains a challenge to obtain a global perspective on the behavioral repertoire of complex nonlinear gene circuits. In this paper, we describe a method for deconstructing complex systems into nonlinear sub-systems, based on mathematically defined phenotypes, which are then represented within a system design space that allows the repertoire of qualitatively distinct phenotypes of the complex system to be identified, enumerated, and analyzed. This method efficiently characterizes large regions of system design space and quickly generates alternative hypotheses for experimental testing. We describe the motivation and strategy in general terms, illustrate its use with a detailed example involving a two-gene circuit with a rich repertoire of dynamic behavior, and discuss experimental means of navigating the system design space.

  9. Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.

    Science.gov (United States)

    Heck, Detlef H; Gu, Wenli; Cao, Ying; Qi, Shuhua; Lacaria, Melanie; Lupski, James R

    2012-11-01

    A quantitative long-term fluid consumption and fluid-licking assay was performed in two mouse models with either an ∼2 Mb genomic deletion, Df(11)17, or the reciprocal duplication copy number variation (CNV), Dp(11)17, analogous to the human genomic rearrangements causing either Smith-Magenis syndrome [SMS; OMIM #182290] or Potocki-Lupski syndrome [PTLS; OMIM #610883], respectively. Both mouse strains display distinct quantitative alterations in fluid consumption compared to their wild-type littermates; several of these changes are diametrically opposing between the two chromosome engineered mouse models. Mice with duplication versus deletion showed longer versus shorter intervals between visits to the waterspout, generated more versus less licks per visit and had higher versus lower variability in the number of licks per lick-burst as compared to their respective wild-type littermates. These findings suggest that copy number variation can affect long-term fluid consumption behavior in mice. Other behavioral differences were unique for either the duplication or deletion mutants; the deletion CNV resulted in increased variability of the licking rhythm, and the duplication CNV resulted in a significant slowing of the licking rhythm. Our findings document a readily quantitated complex behavioral response that can be directly and reciprocally influenced by a gene dosage effect.

  10. Comprehensive behavioral phenotyping of ryanodine receptor type3 (RyR3 knockout mice: Decreased social contact duration in two social interaction tests

    Directory of Open Access Journals (Sweden)

    Naoki Matsuo

    2009-05-01

    Full Text Available Dynamic regulation of the intracellular Ca2+ concentration is crucial for various neuronal functions such as synaptic transmission and plasticity, and gene expression. Ryanodine receptors (RyRs are a family of intracellular calcium release channels that mediate calcium-induced calcium release (CICR from the endoplasmic reticulum. Among the three RyR isoforms, RyR3 is preferentially expressed in the brain especially in the hippocampus and striatum. To investigate the behavioral effects of RyR3 deficiency, we subjected RyR3 knockout (RyR3-/- mice to a battery of behavioral tests. RyR3-/- mice exhibited significantly decreased social contact duration in two different social interaction tests, where two mice can freely move and make contacts with each other. They also exhibited hyperactivity and mildly impaired prepulse inhibition and latent inhibition while they did not show significant abnormalities in motor function and working and reference memory tests. These results suggest that RyR3 has an important role in locomotor activity and social behavior.

  11. Comprehensive behavioral phenotyping of ryanodine receptor type 3 (RyR3) knockout mice: decreased social contact duration in two social interaction tests.

    Science.gov (United States)

    Matsuo, Naoki; Tanda, Koichi; Nakanishi, Kazuo; Yamasaki, Nobuyuki; Toyama, Keiko; Takao, Keizo; Takeshima, Hiroshi; Miyakawa, Tsuyoshi

    2009-01-01

    Dynamic regulation of the intracellular Ca2+ concentration is crucial for various neuronal functions such as synaptic transmission and plasticity, and gene expression. Ryanodine receptors (RyRs) are a family of intracellular calcium release channels that mediate calcium-induced calcium release from the endoplasmic reticulum. Among the three RyR isoforms, RyR3 is preferentially expressed in the brain especially in the hippocampus and striatum. To investigate the behavioral effects of RyR3 deficiency, we subjected RyR3 knockout (RyR3-/-) mice to a battery of behavioral tests. RyR3-/- mice exhibited significantly decreased social contact duration in two different social interaction tests, where two mice can freely move and make contacts with each other. They also exhibited hyperactivity and mildly impaired prepulse inhibition and latent inhibition while they did not show significant abnormalities in motor function and working and reference memory tests. These results indicate that RyR3 has an important role in locomotor activity and social behavior.

  12. Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).

    Science.gov (United States)

    Matute, Esmeralda; Inozemtseva, Olga; Aguilar-Lemarroy, Adriana; Jave-Suarez, Luis F; Della Mina, Erika; Zuffardi, Orsetta; Rivera, Horacio

    2012-09-01

    Cognitive, emotional, and behavioral characterizations have been reported for patients with a few chromosomal imbalances, but not for patients with a 13q deletion. We report the neuropsychological profile and specific linguistic, visual, spatial, constructional, and behavioral disabilities of a young man with a de novo chromosome 13 deletion (13)(q21.32)(q31.1). Karyotyping at 550 G-band resolution showed that the patient's parents did not share the deletion. According to array-comparative genomic hybridization, the deletion spanned about 14 Mb and included 27 genes. A fluorescence in situ hybridization assay revealed an intact 13q telomere on the partially deleted chromosome. The patient had multiple morphologic and ophthalmologic anomalies. A brain magnetic resonance imaging study did not show gross brain defects. Neuropsychological testing showed an acceptable use of everyday language, but mild mental retardation, executive dysfunction, and very poor performance on visual, visuospatial, and constructional tasks. Establishing a neuropsychological profile for a patient with a specific genetic defect can help clinicians, parents, and teachers work to meet the patient's medical, academic, and behavioral needs.

  13. Beware of your mouse strain; differential effects of lithium on behavioral and neurochemical phenotypes in Harlan ICR mice bred in Israel or the USA.

    Science.gov (United States)

    Sade, Yeala; Kara, Nirit Z; Toker, Lilach; Bersudsky, Yuly; Einat, Haim; Agam, Galila

    2014-09-01

    Animal models are crucial components in the search for better understanding of the biological basis of psychiatric disorders and for the development of novel drugs. Research, in general, and research with animal models, in particular, relies on the consistency of effects of investigated drugs or manipulations across experiments. In that context, it had been noted that behavioral responses to lithium in ICR (CD-1) mice from Harlan Israel have changed across the last years. To examine this change, the present study compared the effect of lithium treatment in ICR mice from Harlan Israel with the ICR mice from Harlan USA. The mice were treated with chronic oral lithium. Their lithium serum levels were measured and their behavior in the forced swim test (FST) was evaluated. The mice were also treated with [(3)H]-inositol ICV and lithium injection and their frontal cortex [(3)H]-phosphoinositols accumulation was measured. Results show that lithium serum levels in Israeli mice were significantly lower compared with the USA mice, that lithium had no behavioral effect in the Israeli mice but significantly reduced FST immobility time of the USA mice, and that phosphoinositols accumulation was much more strongly affected by lithium in the USA mice compared with the Israeli mice. These results suggest that the Israeli Harlan colony of ICR mice changed significantly from the original ICR colony in Harlan USA and that the differences might be related to absorption or secretion of lithium.

  14. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

    Science.gov (United States)

    Arbogast, Thomas; Ouagazzal, Abdel-Mouttalib; Chevalier, Claire; Kopanitsa, Maksym; Afinowi, Nurudeen; Migliavacca, Eugenia; Cowling, Belinda S; Birling, Marie-Christine; Champy, Marie-France; Reymond, Alexandre; Herault, Yann

    2016-02-01

    The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice.

  15. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

    Science.gov (United States)

    Arbogast, Thomas; Ouagazzal, Abdel-Mouttalib; Chevalier, Claire; Kopanitsa, Maksym; Afinowi, Nurudeen; Migliavacca, Eugenia; Cowling, Belinda S.; Birling, Marie-Christine; Champy, Marie-France; Reymond, Alexandre; Herault, Yann

    2016-01-01

    The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice. PMID:26872257

  16. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

    Directory of Open Access Journals (Sweden)

    Thomas Arbogast

    2016-02-01

    Full Text Available The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+ or a duplication (Dup/+ of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice.

  17. Resistance to change of operant variation and repetition.

    Science.gov (United States)

    Doughty, A H; Lattal, K A

    2001-09-01

    A multiple chained schedule was used to compare the relative resistance to change of variable and fixed four-peck response sequences in pigeons. In one terminal link, a response sequence produced food only if it occurred infrequently relative to 15 other response sequences (vary). In the other terminal link, a single response sequence produced food (repeat). Identical variable-interval schedules operated in the initial links. During baseline, lower response rates generally occurred in the vary initial link, and similar response and reinforcement rates occurred in each terminal link. Resistance of responding to prefeeding and three rates of response-independent food delivered during the intercomponent intervals then was compared between components. During each disruption condition, initial- and terminal-link response rates generally were more resistant in the vary component than in the repeat component. During the response-independent food conditions, terminal-link response rates were more resistant than initial-link response rates in each component, but this did not occur during prefeeding. Variation (in vary) and repetition (in repeat) both decreased during the response-independent food conditions in the respective components, but with relatively greater disruption in repeat. These results extend earlier findings demonstrating that operant variation is more resistant to disruption than is operant repetition and suggest that theories of response strength, such as behavioral momentum theory, must consider factors other than reinforcement rate. The implications of the results for understanding operant response classes are discussed.

  18. Correlation between caudate nucleus volume and rePetitive behaviors in 2 to 3 year old children with autism sPectrum disorder%2~3岁孤独谱系障碍儿童尾状核体积与重复刻板行为的关系

    Institute of Scientific and Technical Information of China (English)

    邱婷; 张久平; 柯晓燕; 钱璐; 肖湘; 肖运华; 肖婷; 肖朝勇; 邹冰; 方慧; 储康康

    2014-01-01

    Objective:To explore the caudate nucleus volume between the autism spectrum disorder (ASD)and developmental delay(DD)groups,and determine the relationship between caudate nucleus volume and restricted,repetitive behavior(RRB)in 2-to 3-year old children with ASD. Method:Caudate nucleus volume,quantified by ITK-SNAP,was compared between 66 children with ASD and 36 age,gender and intelli-gence-matched control children with DD aged 2-to 3-years. The relationship between caudate nucleus volume and RRB scores of autism diagnostic interview-revised(ADI-R)was analyzed. Results:The volumes of left (P = 0. 002),right(P ﹤ 0. 001)and total(P = 0. 001)caudate nucleus were significantly larger in the ASD group compared to the DD group. In ASD group,left(r = 0. 329,P = 0. 004)and total(r = 0. 317,P = 0. 013) caudate nucleus volumes were significantly associated with lower order RRB scores. Conclusion:The caudate nucleus volume in 2 to 3 year old children with ASD is incresed and correlated with lower order repetitive behaviors.%目的:对比2~3岁孤独谱系障碍(ASD)与发育迟缓(DD)儿童尾状核体积的差异,并探讨尾状核体积与重复刻板行为严重程度的关系。方法:使用 ITK-SNAP 软件分别计算并比较66例 ASD儿童(ASD 组)和36例年龄、性别、智商与之相匹配的 DD 儿童(DD 组)的尾状核体积,并与由孤独症诊断访谈量表-修订版(ADI-R)所得重复刻板行为分数进行相关分析。结果:ASD 组尾状核左侧(P =0.002)、右侧( P ﹤0.001)以及总体积( P =0.001)较 DD 组显著增大;尾状核左侧( r =0.329,P =0.004)、总体积(r =0.317,P =0.013)与 ADI-R 低水平重复刻板行为分呈显著正相关。结论:2~3岁的 ASD 儿童已表现出尾状核体积的异常增大,且与低水平的重复刻板行为有相关。

  19. Body Focused Repetitive Behaviors (BFRBs) and Personality Features

    DEFF Research Database (Denmark)

    Chamberlain, Samuel; Odlaug, Brian Lawrence

    2014-01-01

    have they been incorporated into psychiatric nosological systems. The relationship between BFRBs and aspects of personality has been scarcely researched. Understanding how formal axis-II personality disorders, questionnaire-based measures of personality, or other putatively enduring traits...... such as cognitive impairment, relate to the BFRBs may advance our understanding of the core characteristics of the BFRBs and subsequently lead to greater understanding of their pathophysiology and treatment. This article reviews the existing literature surrounding BFRBs and aspects of personality, and highlights...

  20. Microglia phenotype diversity

    NARCIS (Netherlands)

    Olah, M.; Biber, K.; Vinet, J.; Boddeke, H. W. G. M.

    2011-01-01

    Microglia, the tissue macrophages of the brain, have under healthy conditions a resting phenotype that is characterized by a ramified morphology. With their fine processes microglia are continuously scanning their environment. Upon any homeostatic disturbance microglia rapidly change their phenotype

  1. Microglia phenotype diversity

    NARCIS (Netherlands)

    Olah, M.; Biber, K.; Vinet, J.; Boddeke, H. W. G. M.

    2011-01-01

    Microglia, the tissue macrophages of the brain, have under healthy conditions a resting phenotype that is characterized by a ramified morphology. With their fine processes microglia are continuously scanning their environment. Upon any homeostatic disturbance microglia rapidly change their phenotype

  2. Microglia phenotype diversity

    NARCIS (Netherlands)

    Olah, M.; Biber, K.; Vinet, J.; Boddeke, H. W. G. M.

    Microglia, the tissue macrophages of the brain, have under healthy conditions a resting phenotype that is characterized by a ramified morphology. With their fine processes microglia are continuously scanning their environment. Upon any homeostatic disturbance microglia rapidly change their phenotype

  3. Robust Repetitive Controller for Fast AFM Imaging

    CERN Document Server

    Necipoglu, Serkan; Has, Yunus; Guvenc, Levent; Basdogan, Cagatay

    2012-01-01

    Currently, Atomic Force Microscopy (AFM) is the most preferred Scanning Probe Microscopy (SPM) method due to its numerous advantages. However, increasing the scanning speed and reducing the interaction forces between the probe's tip and the sample surface are still the two main challenges in AFM. To meet these challenges, we take advantage of the fact that the lateral movements performed during an AFM scan is a repetitive motion and propose a Repetitive Controller (RC) for the z-axis movements of the piezo-scanner. The RC utilizes the profile of the previous scan line while scanning the current line to achieve a better scan performance. The results of the scanning experiments performed with our AFM set-up show that the proposed RC significantly outperforms a conventional PI controller that is typically used for the same task. The scan error and the average tapping forces are reduced by 66% and 58%, respectively when the scan speed is increased by 7-fold.

  4. A repetitive elements perspective in Polycomb epigenetics.

    Directory of Open Access Journals (Sweden)

    Valentina eCasa

    2012-10-01

    Full Text Available Repetitive elements comprise over two-thirds of the human genome. For a long time, these elements have received little attention since they were considered non functional. On the contrary, recent evidence indicates that they play central roles in genome integrity, gene expression and disease. Indeed, repeats display meiotic instability associated with disease and are located within common fragile sites, which are hotspots of chromosome rearrangements in tumors. Moreover, a variety of diseases have been associated with aberrant transcription of repetitive elements. Overall this indicates that appropriate regulation of repetitive elements’ activity is fundamental.Polycomb group (PcG proteins are epigenetic regulators that are essential for the normal development of multicellular organisms. Mammalian PcG proteins are involved in fundamental processes, such as cellular memory, cell proliferation, genomic imprinting, X-inactivation, and cancer development. PcG proteins can convey their activity through long-distance interactions also on different chromosomes. This indicates that the 3D organization of PcG proteins contributes significantly to their function. However, it is still unclear how these complex mechanisms are orchestrated and which role PcG proteins play in the multi-level organization of gene regulation. Intriguingly, the greatest proportion of Polycomb-mediated chromatin modifications is located in genomic repeats and it has been suggested that they could provide a binding platform for Polycomb proteins.Here, these lines of evidence are woven together to discuss how repetitive elements could contribute to chromatin organization in the 3D nuclear space.

  5. Emotional arousal enhances word repetition priming

    OpenAIRE

    Thomas, Laura A.; LaBar, Kevin S.

    2005-01-01

    Three experiments were conducted to determine if emotional content increases repetition priming magnitude. In the study phase of Experiment 1, participants rated high-arousing negative (taboo) words and neutral words for concreteness. In the test phase, they made lexical decision judgements for the studied words intermixed with novel words (half taboo, half neutral) and pseudowords. In Experiment 2, low-arousing negative (LAN) words were substituted for the taboo words, and in Experiment 3 al...

  6. The Rhythms of Echo. Variations on Repetition

    Directory of Open Access Journals (Sweden)

    Rosa María Aradra Sánchez

    2015-04-01

    Full Text Available This paper presents a study on the echo as metric and rhetorical procedure. It makes a brief tour through some of the poetic manifestations of echo in the Spanish literary tradition, and a brief tour through the attention that metric theory has paid to this phenomenon. Then it stops at the possibilities that rhetoric offers for its analysis from the generic approach of the discursive repetition phenomena.

  7. Repetitive behaviour in autism: Imaging pathways and trajectories

    NARCIS (Netherlands)

    Langen, M.J.G.

    2009-01-01

    Repetitive behaviour in autism: Imaging pathways and trajectories Repetitive and rigid behaviour is one of the core symptoms of autism, a severe and lifelong child psychiatric disorder. Although repetitive behaviour symptoms often form a significant impairment for affected individuals, systematic st

  8. Lingual Kinematics during Rapid Syllable Repetition in Parkinson's Disease

    Science.gov (United States)

    Wong, Min Ney; Murdoch, Bruce E.; Whelan, Brooke-Mai

    2012-01-01

    Background: Rapid syllable repetition tasks are commonly used in the assessment of motor speech disorders. However, little is known about the articulatory kinematics during rapid syllable repetition in individuals with Parkinson's disease (PD). Aims: To investigate and compare lingual kinematics during rapid syllable repetition in dysarthric…

  9. Repetitive Elements in Mycoplasma hyopneumoniae Transcriptional Regulation

    Science.gov (United States)

    Cattani, Amanda Malvessi; Siqueira, Franciele Maboni; Guedes, Rafael Lucas Muniz; Schrank, Irene Silveira

    2016-01-01

    Transcriptional regulation, a multiple-step process, is still poorly understood in the important pig pathogen Mycoplasma hyopneumoniae. Basic motifs like promoters and terminators have already been described, but no other cis-regulatory elements have been found. DNA repeat sequences have been shown to be an interesting potential source of cis-regulatory elements. In this work, a genome-wide search for tandem and palindromic repetitive elements was performed in the intergenic regions of all coding sequences from M. hyopneumoniae strain 7448. Computational analysis demonstrated the presence of 144 tandem repeats and 1,171 palindromic elements. The DNA repeat sequences were distributed within the 5’ upstream regions of 86% of transcriptional units of M. hyopneumoniae strain 7448. Comparative analysis between distinct repetitive sequences found in related mycoplasma genomes demonstrated different percentages of conservation among pathogenic and nonpathogenic strains. qPCR assays revealed differential expression among genes showing variable numbers of repetitive elements. In addition, repeats found in 206 genes already described to be differentially regulated under different culture conditions of M. hyopneumoniae strain 232 showed almost 80% conservation in relation to M. hyopneumoniae strain 7448 repeats. Altogether, these findings suggest a potential regulatory role of tandem and palindromic DNA repeats in the M. hyopneumoniae transcriptional profile. PMID:28005945

  10. Modeling repetitive motions using structured light.

    Science.gov (United States)

    Xu, Yi; Aliaga, Daniel G

    2010-01-01

    Obtaining models of dynamic 3D objects is an important part of content generation for computer graphics. Numerous methods have been extended from static scenarios to model dynamic scenes. If the states or poses of the dynamic object repeat often during a sequence (but not necessarily periodically), we call such a repetitive motion. There are many objects, such as toys, machines, and humans, undergoing repetitive motions. Our key observation is that when a motion-state repeats, we can sample the scene under the same motion state again but using a different set of parameters; thus, providing more information of each motion state. This enables robustly acquiring dense 3D information difficult for objects with repetitive motions using only simple hardware. After the motion sequence, we group temporally disjoint observations of the same motion state together and produce a smooth space-time reconstruction of the scene. Effectively, the dynamic scene modeling problem is converted to a series of static scene reconstructions, which are easier to tackle. The varying sampling parameters can be, for example, structured-light patterns, illumination directions, and viewpoints resulting in different modeling techniques. Based on this observation, we present an image-based motion-state framework and demonstrate our paradigm using either a synchronized or an unsynchronized structured-light acquisition method.

  11. Repetitive element hypermethylation in multiple sclerosis patients.

    Science.gov (United States)

    Neven, K Y; Piola, M; Angelici, L; Cortini, F; Fenoglio, C; Galimberti, D; Pesatori, A C; Scarpini, E; Bollati, V

    2016-06-18

    Multiple sclerosis (MS) is a complex disorder of the central nervous system whose cause is currently unknown. Evidence is increasing that DNA methylation alterations could be involved in inflammatory and neurodegenerative diseases and could contribute to MS pathogenesis. Repetitive elements Alu, LINE-1 and SAT-α, are widely known as estimators of global DNA methylation. We investigated Alu, LINE-1 and SAT-α methylation levels to evaluate their difference in a case-control setup and their role as a marker of disability. We obtained blood samples from 51 MS patients and 137 healthy volunteers matched by gender, age and smoking. Methylation was assessed using bisulfite-PCR-pyrosequencing. For all participants, medical history, physical and neurological examinations and screening laboratory tests were collected. All repetitive elements were hypermethylated in MS patients compared to healthy controls. A lower Expanded Disability Status Scale (EDSS) score was associated with a lower levels of LINE-1 methylation for 'EDSS = 1.0' and '1.5 ≤ EDSS ≤ 2.5' compared to an EDSS higher than 3, while Alu was associated with a higher level of methylation in these groups: 'EDSS = 1.0' and '1.5 ≤ EDSS ≤ 2.5'. MS patients exhibit an hypermethylation in repetitive elements compared to healthy controls. Alu and LINE-1 were associated with degree of EDSS score. Forthcoming studies focusing on epigenetics and the multifactorial pathogenetic mechanism of MS could elucidate these links further.

  12. FRB repetition and non-Poissonian statistics

    CERN Document Server

    Connor, Liam; Oppermann, Niels

    2016-01-01

    We discuss some of the claims that have been made regarding the statistics of fast radio bursts (FRBs). In an earlier paper \\citep{2015arXiv150505535C} we conjectured that flicker noise associated with FRB repetition could show up in non-cataclysmic neutron star emission models, like supergiant pulses. We show how the current limits of repetition would be significantly weakened if their repeat rate really were non-Poissonian and had a pink or red spectrum. Repetition and its statistics have implications for observing strategy, generally favouring shallow wide-field surveys, since in the non-repeating scenario survey depth is unimportant. We also discuss the statistics of the apparent latitudinal dependence of FRBs, and offer a simple method for calculating the significance of this effect. We provide a generalized Bayesian framework for addressing this problem, which allows for direct model comparison. It is shown how the evidence for a steep latitudinal gradient of the FRB rate is less strong than initially s...

  13. Spoken word memory traces within the human auditory cortex revealed by repetition priming and functional magnetic resonance imaging.

    Science.gov (United States)

    Gagnepain, Pierre; Chételat, Gael; Landeau, Brigitte; Dayan, Jacques; Eustache, Francis; Lebreton, Karine

    2008-05-14

    Previous neuroimaging studies in the visual domain have shown that neurons along the perceptual processing pathway retain the physical properties of written words, faces, and objects. The aim of this study was to reveal the existence of similar neuronal properties within the human auditory cortex. Brain activity was measured using functional magnetic resonance imaging during a repetition priming paradigm, with words and pseudowords heard in an acoustically degraded format. Both the amplitude and peak latency of the hemodynamic response (HR) were assessed to determine the nature of the neuronal signature of spoken word priming. A statistically significant stimulus type by repetition interaction was found in various bilateral auditory cortical areas, demonstrating either HR suppression and enhancement for repeated spoken words and pseudowords, respectively, or word-specific repetition suppression without any significant effects for pseudowords. Repetition latency shift only occurred with word-specific repetition suppression in the right middle/posterior superior temporal sulcus. In this region, both repetition suppression and latency shift were related to behavioral priming. Our findings highlight for the first time the existence of long-term spoken word memory traces within the human auditory cortex. The timescale of auditory information integration and the neuronal mechanisms underlying priming both appear to differ according to the level of representations coded by neurons. Repetition may "sharpen" word-nonspecific representations coding short temporal variations, whereas a complex interaction between the activation strength and temporal integration of neuronal activity may occur in neuronal populations coding word-specific representations within longer temporal windows.

  14. The accumulation of brain injury leads to severe neuropathological and neurobehavioral changes after repetitive mild traumatic brain injury.

    Science.gov (United States)

    Gao, Huabin; Han, Zhaoli; Bai, Ruojing; Huang, Shan; Ge, Xintong; Chen, Fanglian; Lei, Ping

    2017-02-15

    Traumatic brain injury (TBI) is a major public health problem with long-term neurobehavioral sequela. The evidences have revealed that TBI is a risk factor for later development of neurodegenerative disease and both the single and repetitive brain injury can lead to the neurodegeneration. But whether the effects of accumulation play an important role in the neurodegenerative disease is still unknown. We utilized the Sprague Dawley (SD) rats to develop the animal models of repetitive mild TBI and single mild TBI in order to detect the neurobehavioral changes. The results of neurobehavioral test revealed that the repetitive mild TBI led to more severe behavioral injuries than the single TBI. There were more activated microglia cells and astrocytes in the repetitive mild TBI group than the single TBI group. In consistent with this, the levels of TNF-α and IL-6 were higher and the expression of IL-10 was lower in the repetitive mild TBI group compared with the single TBI group. The expression of amyloid precursor protein (APP) increased in the repetitive TBI group detected by ELISA and western blot. But the levels of total tau (Tau-5) and P-tau (ser202) seem no different between the two groups in most time point. In conclusion, repetitive mild TBI could lead to more severe neurobehavioral impairments and the effects of accumulation may be associated with the increased inflammation in the brain. Copyright © 2016 Elsevier B.V. All rights reserved.

  15. Reversing song behavior phenotype: Testosterone driven induction of singing and measures of song quality in adult male and female canaries (Serinus canaria).

    Science.gov (United States)

    Madison, Farrah N; Rouse, Melvin L; Balthazart, Jacques; Ball, Gregory F

    2015-05-01

    In songbirds, such as canaries (Serinus canaria), the song control circuit has been shown to undergo a remarkable change in morphology in response to exogenous testosterone (T). It is also well established that HVC, a telencephalic nucleus involved in song production, is significantly larger in males than in females. T regulates seasonal changes in HVC volume in males, and exposure to exogenous T in adult females increases HVC volume and singing activity such that their song becomes more male-like in frequency and structure. However, whether there are sex differences in the ability of T to modulate changes in the song system and song behavior has not been investigated in canaries. In this study, we compared the effects of increasing doses of T on singing and song control nuclei volumes in adult male and female American Singer canaries exposed to identical environmental conditions. Males were castrated and all birds were placed on short days (8L:16D) for 8 weeks. Males and females were implanted either with a 2, 6 or 12 mm long Silastic™ implant filled with crystalline T or an empty 12 mm implant as control. Birds were then housed individually in sound-attenuated chambers. Brains were collected from six birds from each group after 1 week or 3 weeks of treatment. Testosterone was not equally effective in increasing singing activity in both males and females. Changes in song quality and occurrence rate took place after a shorter latency in males than in females; however, females did undergo marked changes in a number of measures of song behavior if given sufficient time. Males responded with an increase in HVC volume at all three doses. In females, T-induced changes in HVC volume only had limited amplitude and these volumes never reached male-typical levels, suggesting that there are sex differences in the neural substrate that responds to T. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. fMRI repetition suppression: neuronal adaptation or stimulus expectation?

    Science.gov (United States)

    Larsson, Jonas; Smith, Andrew T

    2012-03-01

    Measurements of repetition suppression with functional magnetic resonance imaging (fMRI adaptation) have been used widely to probe neuronal population response properties in human cerebral cortex. fMRI adaptation techniques assume that fMRI repetition suppression reflects neuronal adaptation, an assumption that has been challenged on the basis of evidence that repetition-related response changes may reflect unrelated factors, such as attention and stimulus expectation. Specifically, Summerfield et al. (Summerfield C, Trittschuh EH, Monti JM, Mesulam MM, Egner T. 2008. Neural repetition suppression reflects fulfilled perceptual expectations. Nat Neurosci. 11:1004-1006) reported that the relative frequency of stimulus repetitions and non-repetitions influenced the magnitude of repetition suppression in the fusiform face area, suggesting that stimulus expectation accounted for most of the effect of repetition. We confirm that stimulus expectation can significantly influence fMRI repetition suppression throughout visual cortex and show that it occurs with long as well as short adaptation durations. However, the effect was attention dependent: When attention was diverted away from the stimuli, the effects of stimulus expectation completely disappeared. Nonetheless, robust and significant repetition suppression was still evident. These results suggest that fMRI repetition suppression reflects a combination of neuronal adaptation and attention-dependent expectation effects that can be experimentally dissociated. This implies that with an appropriate experimental design, fMRI adaptation can provide valid measures of neuronal adaptation and hence response specificity.

  17. The effect of repetitive transcranial magnetic stimulation on the changes of depressive like behaviors in chronic unpredictable mild stress model rats and its possible mechanism%重复经颅磁刺激对抑郁模型大鼠行为的改善作用及机制

    Institute of Scientific and Technical Information of China (English)

    刘高华; 陈冠婕; 陈怡环; 杨帆; 张瑞国; 彭正午; 谭庆荣

    2013-01-01

    Objective To investigate the effect of repetitive transcranial magnetic stimulation (rTMS) on the depressive like behaviors and expression of brain derived neurotrophic factor (BDNF),IL-1β and NF-κB of hippocampal in chronic unpredictable mild stress (CUMS) rats.Methods Thirty-two adult male rats were randomly divided into four groups (n =8):Control group,Control + rTMS group,CUMS group and CUMS + rTMS group.The sucrose preference test,forced swim test and open field test were used to evaluate depressive like behaviors for each groups.In addition,the expression of BDNF,NF-κB and IL-1 β in hippocampal were detected by western blot and ELISA after behavioral test,respectively.Results 1.The effects of rTMS on depressive like behaviors of CUMS rats:in the sucrose preference test,the sucrose preference rate of CUMS rats (0.67 ± 0.06) was significantly lower than Control group (0.91 ± 0.04),which was higher in the CUMS + rTMS group (0.83 ±0.08).In the forced swim test,the immobility time of CUMS group ((26.88 ± 11.33) s) was longer than Control group ((15.22 ± 6.75) s) and CUMS + rTMS group ((18.41 ± 6.95) s).In the open field test,both the total distance travelled and number of central area entry times of CUMS group((849.165 ± 769.01) cm,(7.42 ± 5.68))were significantly shorter ((6224.81 ± 1403.2) cm) and smaller (22.86 ± 3.72) than Control group,and those of the CUMS + rTMS were longer ((4105.57 ± 1516.92)cm) and larger (21.25 ± 3.45).All the behavioral results were statistically significant (P< 0.05).And of all the aforementioned behavioral parameters,there were no significant differences between Control group and Control + rTMS group(P>0.05).2.The effects of rTMS on the hippocampal expressions of BDNF,NF-κB and IL-1β in CUMS rats:compared with Control group,the hippocampal expression of BDNF in CUMS rats was significantly decreased,while the expressions of NF-κB and IL-1β in the hippocampus were significantly increased (P< 0.05).Compared

  18. Storytelling and Repetitive Narratives for Design Empathy

    DEFF Research Database (Denmark)

    Fritsch, Jonas; Judice, Andrea; Soini, Katja

    2007-01-01

    Today it is widely established in design research that empathy is an important part of creating a true understanding of user experience as a resource for design. A typical challenge is how to transmit the feeling of empathy acquired by user studies to designers who have not participated in the user...... study. In this paper, we show how we attained an empathic understanding through storytelling and aroused empathy to others using repetitive narratives in an experimental presentation bringing forth factual, reflective and experiential aspects of the user information. Taking as a starting point our...... experiences with the design project Suomenlinna Seclusive, we conclude with the potential of using narratives for invoking design empathy....

  19. A miniature high repetition rate shock tube.

    Science.gov (United States)

    Tranter, R S; Lynch, P T

    2013-09-01

    A miniature high repetition rate shock tube with excellent reproducibility has been constructed to facilitate high temperature, high pressure, gas phase experiments at facilities such as synchrotron light sources where space is limited and many experiments need to be averaged to obtain adequate signal levels. The shock tube is designed to generate reaction conditions of T > 600 K, P shock waves with predictable characteristics are created, repeatably. Two synchrotron-based experiments using this apparatus are also briefly described here, demonstrating the potential of the shock tube for research at synchrotron light sources.

  20. Storytelling and Repetitive Narratives for Design Empathy

    DEFF Research Database (Denmark)

    Fritsch, Jonas; Judice, Andrea; Soini, Katja

    2007-01-01

    Today it is widely established in design research that empathy is an important part of creating a true understanding of user experience as a resource for design. A typical challenge is how to transmit the feeling of empathy acquired by user studies to designers who have not participated in the user...... study. In this paper, we show how we attained an empathic understanding through storytelling and aroused empathy to others using repetitive narratives in an experimental presentation bringing forth factual, reflective and experiential aspects of the user information. Taking as a starting point our...... experiences with the design project Suomenlinna Seclusive, we conclude with the potential of using narratives for invoking design empathy....

  1. The repetitive component of the sunflower genome

    Directory of Open Access Journals (Sweden)

    T. Giordani

    2014-08-01

    Full Text Available The sunflower (Helianthus annuus and species belonging to the genus Helianthus are emerging as a model species and genus for a number of studies on genome evolution. In this review, we report on the repetitive component of the H. annuus genome at the biochemical, molecular, cytological, and genomic levels. Recent work on sunflower genome composition is described, with emphasis on different types of repeat sequences, especially LTR-retrotransposons, of which we report on isolation, characterisation, cytological localisation, transcription, dynamics of proliferation, and comparative analyses within the genus Helianthus.

  2. Comportamento fenotípico e genotípico de populações de manjericão Phenotypic and genotypic behavior of basil populations

    Directory of Open Access Journals (Sweden)

    Arie F Blank

    2010-09-01

    Full Text Available Genótipos de manjericão (Ocimum basilicum L. apresentam diferentes teores, rendimentos e composições químicas de óleos essenciais. Fatores influenciam na produção do óleo essencial de manjericão, como a cultivar plantada e o método de cultivo. O estudo dos parâmetros genéticos tem sido ferramenta útil na identificação de genótipos superiores. Este trabalho teve o objetivo de estimar alguns parâmetros genéticos associados ao comportamento produtivo de seis populações de manjericão nos anos agrícola 2004/05 e 2005/06. As características massa seca de folha + inflorescência e rendimento de óleo essencial apresentaram grande variabilidade por forte influência dos anos estudados. Já o teor de linalol manteve sua produtividade estável ao longo dos dois anos. Teor e rendimento de óleo essencial e teor de linalol no óleo essencial apresentaram herdabilidades altas na análise conjunta, indicando controle genético e grande possibilidade de serem transmitidas para as gerações futuras. Na análise conjunta as populações PI 197442-S3-bulk 3, PI 197442-S3-bulk 5 e PI 197442-S3-bulk 8 apresentaram os maiores teores e rendimentos de óleo essencial. Quanto ao constituinte químico majoritário do óleo essencial, o linalol, todas as populações apresentaram teores semelhantes, diferindo apenas na presença de alguns constituintes químicos minoritários.Basil (Ocimum basilicum L. genotypes present different contents, yields and chemical constituents in its essential oils. Factors influence the essential oil production of basil, such as cultivar and cultivation method. The study of genetic parameters is a useful tool to identify superior genotypes. In this work we estimated some genetic parameters associated to the production behavior of six basil populations cultivated in 2004/05 and 2005/06. The variables dry weight of leaves + inflorescences and essential oil yield presented high variability because of strong influence of

  3. Relationship between repetitive firing and afterhyperpolarizations in human neocortical neurons.

    Science.gov (United States)

    Lorenzon, N M; Foehring, R C

    1992-02-01

    1. Human neocortical neurons fire repetitively in response to long depolarizing current injections. The slope of the relationship between average firing frequency and injected current (f-I slope) was linear or bilinear in these cells. The mean steady-state f-I slope (average of the last 500 ms of a 1-s firing episode) was 57.8 Hz/nA. The instantaneous firing rate decreased with time during a 1-s constant-current injection (spike frequency adaptation). Also, human neurons exhibited habituation in response to a 1-s current stimulus repeated every 2 s. 2. Afterhyperpolarizations (AHPs) reflect the active ionic conductances after action potentials. We studied AHPs with the use of intracellular recordings and pharmacological manipulations in the in vitro slice preparation to 1) gain insight into the ionic mechanisms underlying the AHPs and 2) elucidate the role that the underlying currents play in the functional behavior of human cortical neurons. 3. We have classified three AHPs in human neocortical neurons on the basis of their time courses: fast, medium, and slow. The amplitude of the AHPs was dependent on stimulus intensity and duration, number and frequency of spikes, and membrane potential. 4. The fast AHP had a reversal potential of -65 mV and was eliminated in extracellular Co2+, tetraethylammonium (TEA) or 4-aminopyridine, and intracellular TEA or CsCl. These manipulations also caused an increase in spike width. 5. The medium AHP had a reversal potential of -90 to -93 mV (22-24 mV hyperpolarized from mean resting potential). This AHP was reduced by Co2+, apamin, tubocurare, muscarine, norepinephrine (NE), and serotonin (5-HT). Pharmacological manipulations suggest that the medium AHP is produced in part by 1) a Ca-dependent K+ current and 2) a time-dependent anomalous rectifier (IH). 6. The slow AHP reversed at -83 to -87 mV (14-18 mV hyperpolarized from mean resting potential). This AHP was diminished by Co2+, muscarine, NE, and 5-HT. The pharmacology of the

  4. The overshoot and phenotypic equilibrium in characterizing cancer dynamics of reversible phenotypic plasticity.

    Science.gov (United States)

    Chen, Xiufang; Wang, Yue; Feng, Tianquan; Yi, Ming; Zhang, Xingan; Zhou, Da

    2016-02-07

    The paradigm of phenotypic plasticity indicates reversible relations of different cancer cell phenotypes, which extends the cellular hierarchy proposed by the classical cancer stem cell (CSC) theory. Since it is still questionable if the phenotypic plasticity is a crucial improvement to the hierarchical model or just a minor extension to it, it is worthwhile to explore the dynamic behavior characterizing the reversible phenotypic plasticity. In this study we compare the hierarchical model and the reversible model in predicting the cell-state dynamics observed in biological experiments. Our results show that the hierarchical model shows significant disadvantages over the reversible model in describing both long-term stability (phenotypic equilibrium) and short-term transient dynamics (overshoot) in cancer cell populations. In a very specific case in which the total growth of population due to each cell type is identical, the hierarchical model predicts neither phenotypic equilibrium nor overshoot, whereas the reversible model succeeds in predicting both of them. Even though the performance of the hierarchical model can be improved by relaxing the specific assumption, its prediction to the phenotypic equilibrium strongly depends on a precondition that may be unrealistic in biological experiments. Moreover, it still does not show as rich dynamics as the reversible model in capturing the overshoots of both CSCs and non-CSCs. By comparison, it is more likely for the reversible model to correctly predict the stability of the phenotypic mixture and various types of overshoot behavior.

  5. Repetition priming in selective attention: A TVA analysis.

    Science.gov (United States)

    Ásgeirsson, Árni Gunnar; Kristjánsson, Árni; Bundesen, Claus

    2015-09-01

    Current behavior is influenced by events in the recent past. In visual attention, this is expressed in many variations of priming effects. Here, we investigate color priming in a brief exposure digit-recognition task. Observers performed a masked odd-one-out singleton recognition task where the target-color either repeated or changed between subsequent trials. Performance was measured by recognition accuracy over exposure durations. The purpose of the study was to replicate earlier findings of perceptual priming in brief displays and to model those results based on a Theory of Visual Attention (TVA; Bundesen, 1990). We tested 4 different definitions of a generic TVA-model and assessed their explanatory power. Our hypothesis was that priming effects could be explained by selective mechanisms, and that target-color repetitions would only affect the selectivity parameter (α) of our models. Repeating target colors enhanced performance for all 12 observers. As predicted, this was only true under conditions that required selection of a target among distractors, but not when a target was presented alone. Model fits by TVA were obtained with a trial-by-trial maximum likelihood estimation procedure that estimated 4-15 free parameters, depending on the particular model. We draw two main conclusions. Color priming can be modeled simply as a change in selectivity between conditions of repetition or swap of target color. Depending on the desired resolution of analysis; priming can accurately be modeled by a simple four parameter model, where VSTM capacity and spatial biases of attention are ignored, or more fine-grained by a 10 parameter model that takes these aspects into account. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. The role of short-term memory impairment in nonword repetition, real word repetition, and nonword decoding: A case study.

    Science.gov (United States)

    Peter, Beate

    2017-09-21

    In a companion study, adults with dyslexia and adults with a probable history of childhood apraxia of speech showed evidence of difficulty with processing sequential information during nonword repetition, multisyllabic real word repetition and nonword decoding. Results suggested that some errors arose in visual encoding during nonword reading, all levels of processing but especially short-term memory storage/retrieval during nonword repetition, and motor planning and programming during complex real word repetition. To further investigate the role of short-term memory, a participant with short-term memory impairment (MI) was recruited. MI was confirmed with poor performance during a sentence repetition and three nonword repetition tasks, all of which have a high short-term memory load, whereas typical performance was observed during tests of reading, spelling, and static verbal knowledge, all with low short-term memory loads. Experimental results show error-free performance during multisyllabic real word repetition but high counts of sequence errors, especially migrations and assimilations, during nonword repetition, supporting short-term memory as a locus of sequential processing deficit during nonword repetition. Results are also consistent with the hypothesis that during complex real word repetition, short-term memory is bypassed as the word is recognized and retrieved from long-term memory prior to producing the word.

  7. The effect of repetitive transcranial magnetic stimulation on behaviors and hippocampal GR protein ex-pression in depression model rats%重复经颅磁刺激对抑郁模型大鼠行为学及海马区糖皮质激素受体表达的影响

    Institute of Scientific and Technical Information of China (English)

    任慧聪; 谷世娜; 赵琳; 李文强; 张朝辉

    2016-01-01

    Objective To explore the effect of repetitive transcranial magnetic stimulation (rTMS) on behaviors and hippocampal glucocorticoid receptor (GR) protein expression in chronic stress depression model rats and the possible antidepressant mechanism of rTMS. Method Seventy-five male Sprague-Dawley rats were randomly divided into the blank control group (n=15) and the stress-induced group (n=60). Singly housing and chronic unpredictable mild stress (CUMS) were used to induce the depression model in stress-induced group. Forty-five CUMS rats were selected and ran⁃domly divided into rTMS group (receiving 10 Hz rTMS intervention for 3 weeks), sham group (receiving pseudo rTMS treatments for 3 weeks) and depression group (with no further treatment). Body weight measurements and performance in the sucrose consumption and forced swimming test (FST) were evaluated before modeling, after modeling and after inter⁃vention. The GR protein and GR mRNA expression level in the hippocampus were examined after intervention. Results Compared with control group, the body weight growth rate and the sugar water preference were significantly lower in stress-induced group (P0.05), were higher than those in sham group and depression group (P<0.01). The immobility times of FST in rTMS group and control group were shorter than sham group and depression group (P<0.01). Compared with rTMS group and control group, GR and GR mRNA expression levels in the hippocampus were significantly reduced in sham group and depression group (P<0.01). Conclusion rTMS can improve depression behavior of CUMS rats, which may be associated with upregulation of GR expression in the hippocampus.%目的:观察重复经颅磁刺激(repetitive transcranial magnetic stimulation,rTMS)对慢性应激抑郁模型大鼠的抗抑郁作用及对海马区糖皮质激素受体(glucocorticoid receptor,GR)表达的影响,探讨rTMS抗抑郁作用的可能机制。方法75只健康成年雄性

  8. A phonetic approach to consonant repetition in early words.

    Science.gov (United States)

    Kim, Namhee; Davis, Barbara L

    2015-08-01

    The goal of this study was to evaluate movement-based principles for understanding early speech output patterns. Consonant repetition patterns within children's actual productions of word forms were analyzed using spontaneous speech data from 10 typically developing American-English learning children between 12 and 36 months of age. Place of articulation, word level patterns, and developmental trends in CVC and CVCV repeated word forms were evaluated. Labial and coronal place repetitions dominated. Regressive repetition (e.g., [gag] for "dog") occurred frequently in CVC but not in CVCV word forms. Consonant repetition decreased over time. However, the children produced sound types available reported as being within young children's production system capabilities in consonant repetitions in all time periods. Findings suggest that a movement-based approach can provide a framework for comprehensively characterizing consonant place repetition patterns in early speech development.

  9. Phenotype definition in epilepsy.

    Science.gov (United States)

    Winawer, Melodie R

    2006-05-01

    Phenotype definition consists of the use of epidemiologic, biological, molecular, or computational methods to systematically select features of a disorder that might result from distinct genetic influences. By carefully defining the target phenotype, or dividing the sample by phenotypic characteristics, we can hope to narrow the range of genes that influence risk for the trait in the study population, thereby increasing the likelihood of finding them. In this article, fundamental issues that arise in phenotyping in epilepsy and other disorders are reviewed, and factors complicating genotype-phenotype correlation are discussed. Methods of data collection, analysis, and interpretation are addressed, focusing on epidemiologic studies. With this foundation in place, the epilepsy subtypes and clinical features that appear to have a genetic basis are described, and the epidemiologic studies that have provided evidence for the heritability of these phenotypic characteristics, supporting their use in future genetic investigations, are reviewed. Finally, several molecular approaches to phenotype definition are discussed, in which the molecular defect, rather than the clinical phenotype, is used as a starting point.

  10. Phenotypic Classification of Well-Differentiated Gastric Adenocarcinoma

    Institute of Scientific and Technical Information of China (English)

    Ying Wu; Zhong-wu Li; Ji-you Li

    2009-01-01

    Objective: To investigate the genotypes of well-differentiated non-cardiac gastric adenocarcinoma and their clinicopathological significance.Methods: Sixty-four cases of well-differentiated non-cardiac gastric adenocarcinoma were included in this study. The expressions of intestinal phenotypic markers including CDX2, MUC2, Li-cadherin, CD10, Hepatocyte(Hep) and Villin, and gastric phenotypic markers including MUC5AC and pS2 were detected immunohistochemically. Based on the expressions of phenotypic markers, 64 cases can be divided into four phenotypes. Cases only expressing intestinal phenotypic markers were classified as intestinal phenotype; cases only expressing gastric phenotypic markers as gastric phenotype; cases expressing both intestinal and gastric phenotypic markers as gastrointestinal phenotype; and cases expressing neither intestinal nor gastric phenotypic marker as null phenotype. The association of phenotype and clinic-pathological parameters was analyzed. We also detected the expressions of markers related to the development and progression of cancer, including Rb, P53, c-Met, MIF, TGF-β-RII, β-catenin, CD44v6 and E-cadherin.Results: Of 64 cases, 33(51.6%) were intestinal type, 3(4.7%) were gastric type, 25(39.1%) were gastrointestinal type and 3(4.7%) were null type. Fifty-eight cases were either intestinal or gastrointestinal type, which accounted for 90.6% of all the cases. In addition, there was an association between phenotype and biological behaviors (invasion or metastasis). The biological behaviors of intestinal and gastrointestinal type were better than gastric type. Compared with intestinal, gastric and gastrointestinal types, the biological behaviors of null type were the most aggressive. The biological behaviors of gastric carcinoma tended to be better as the number of expression of intestinal markers increased. Expression of markers related to the development and progression of cancer was not significantly correlated with phenotypes

  11. FEMA Hazard Mitigation Assistance Repetitive Flood Claims (RFC) Data

    Data.gov (United States)

    Department of Homeland Security — This dataset contains closed and obligated projects funded under the following Hazard Mitigation Assistance (HMA) grant programs: Repetitive Flood Claims (RFC). The...

  12. A review of neuroimaging findings in repetitive brain trauma.

    Science.gov (United States)

    Koerte, Inga K; Lin, Alexander P; Willems, Anna; Muehlmann, Marc; Hufschmidt, Jakob; Coleman, Michael J; Green, Isobel; Liao, Huijun; Tate, David F; Wilde, Elisabeth A; Pasternak, Ofer; Bouix, Sylvain; Rathi, Yogesh; Bigler, Erin D; Stern, Robert A; Shenton, Martha E

    2015-05-01

    Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease confirmed at postmortem. Those at highest risk are professional athletes who participate in contact sports and military personnel who are exposed to repetitive blast events. All neuropathologically confirmed CTE cases, to date, have had a history of repetitive head impacts. This suggests that repetitive head impacts may be necessary for the initiation of the pathogenetic cascade that, in some cases, leads to CTE. Importantly, while all CTE appears to result from repetitive brain trauma, not all repetitive brain trauma results in CTE. Magnetic resonance imaging has great potential for understanding better the underlying mechanisms of repetitive brain trauma. In this review, we provide an overview of advanced imaging techniques currently used to investigate brain anomalies. We also provide an overview of neuroimaging findings in those exposed to repetitive head impacts in the acute/subacute and chronic phase of injury and in more neurodegenerative phases of injury, as well as in military personnel exposed to repetitive head impacts. Finally, we discuss future directions for research that will likely lead to a better understanding of the underlying mechanisms separating those who recover from repetitive brain trauma vs. those who go on to develop CTE.

  13. FEMA Hazard Mitigation Assistance Severe Repetitive Loss (SRL) Data

    Data.gov (United States)

    Department of Homeland Security — This dataset contains closed and obligated projects funded under the following Hazard Mitigation Assistance (HMA) grant programs: Severe Repetitive Loss (SRL). The...

  14. Repetitive control of electrically driven robot manipulators

    Science.gov (United States)

    Fateh, Mohammad Mehdi; Ahsani Tehrani, Hojjat; Karbassi, Seyed Mehdi

    2013-04-01

    This article presents a novel robust discrete repetitive control of electrically driven robot manipulators for tracking of a periodic trajectory. We propose a novel model, which presents the highly non-linear dynamics of robot manipulator in the form of linear discrete-time time-varying system. Based on the proposed model, we develop a two-term control law. The first term is an ordinary time-optimal and minimum-norm (TOMN) control by employing parametric controllers to guarantee stability. The second term is a novel robust control to improve the control performance in the face of uncertainties. The robust control estimates and compensates uncertainties including the parametric uncertainty, unmodelled dynamics and external disturbances. Performance of the proposed method is compared with two discrete methods, namely the TOMN control and an adaptive iterative learning (AIL) control. Simulation results confirm superiority of the proposed method in terms of the convergence speed and precision.

  15. Studies of the uncanny: the repetition factor

    Directory of Open Access Journals (Sweden)

    Julia Teitelroit Martins

    2011-06-01

    Full Text Available Freud’s essay The Uncanny (Das Unheimliche offers many indications for the comprehension of an aesthetics of the uncanny which deserve to be explored. Nonetheless, a concept traverses it from beginning to end: the return – which enables its reading under the light of Beyond the pleasure principle, written along the same span of time. Emphasis is given to the uncanny in the sense of repetition of the different – a paradox in terms, like the strangely familiar uncanny. In order to test the validity of an aesthetic reading under this perspective, follows an analysis of the brief short story “A terceira margem do rio” (“The third margin of the river”, by Guimarães Rosa.

  16. Object color affects identification and repetition priming.

    Science.gov (United States)

    Uttl, Bob; Graf, Peter; Santacruz, Pilar

    2006-10-01

    We investigated the influence of color on the identification of both non-studied and studied objects. Participants studied black and white and color photos of common objects and memory was assessed with an identification test. Consistent with our meta-analysis of prior research, we found that objects were easier to identify from color than from black and white photos. We also found substantial priming in all conditions, and study-to-test changes in an object's color reduced the magnitude of priming. Color-specific priming effects were large for color-complex objects, but minimal for color-simple objects. The pattern and magnitude of priming effects was not influenced either by the extent to which an object always appears in the same color (i.e., whether a color is symptomatic of an object) or by the object's origin (natural versus fabricated). We discuss the implications of our findings for theoretical accounts of object perception and repetition priming.

  17. Brain responses evoked by high-frequency repetitive transcranial magnetic stimulation: an event-related potential study

    NARCIS (Netherlands)

    M. Hamidi; H.A. Slagter; G. Tononi; B.R. Postle

    2010-01-01

    Background Many recent studies have used repetitive transcranial magnetic stimulation (rTMS) to study brain-behavior relationships. However, the pulse-to-pulse neural effects of rapid delivery of multiple TMS pulses are unknown largely because of TMS-evoked electrical artifacts limiting recording of

  18. Wine Expertise Predicts Taste Phenotype.

    Science.gov (United States)

    Hayes, John E; Pickering, Gary J

    2012-03-01

    Taste phenotypes have long been studied in relation to alcohol intake, dependence, and family history, with contradictory findings. However, on balance - with appropriate caveats about populations tested, outcomes measured and psychophysical methods used - an association between variation in taste responsiveness and some alcohol behaviors is supported. Recent work suggests super-tasting (operationalized via propylthiouracil (PROP) bitterness) not only associates with heightened response but also with more acute discrimination between stimuli. Here, we explore relationships between food and beverage adventurousness and taste phenotype. A convenience sample of wine drinkers (n=330) were recruited in Ontario and phenotyped for PROP bitterness via filter paper disk. They also filled out a short questionnaire regarding willingness to try new foods, alcoholic beverages and wines as well as level of wine involvement, which was used to classify them as a wine expert (n=110) or wine consumer (n=220). In univariate logisitic models, food adventurousness predicted trying new wines and beverages but not expertise. Likewise, wine expertise predicted willingness to try new wines and beverages but not foods. In separate multivariate logistic models, willingness to try new wines and beverages was predicted by expertise and food adventurousness but not PROP. However, mean PROP bitterness was higher among wine experts than wine consumers, and the conditional distribution functions differed between experts and consumers. In contrast, PROP means and distributions did not differ with food adventurousness. These data suggest individuals may self-select for specific professions based on sensory ability (i.e., an active gene-environment correlation) but phenotype does not explain willingness to try new stimuli.

  19. Understanding repetitive travel mode choices in a stable context: A panel study approach

    DEFF Research Database (Denmark)

    Thøgersen, John

    2006-01-01

    of public transport is traced back to attitudes towards doing so, beliefs about whether or not public transportation can cover one's transport needs, and car ownership. The influence of these variables is greatly attenuated when past behavior is accounted for, however. For subjects without a car, behavior......It is argued that most travel mode choices are repetitive and made in a stable context. As an example, the everyday use of public transport is analyzed based on a panel survey with a random sample of about 1300 Danish residents interviewed up to three times in the period 1998-2000. The use...

  20. Behavioral phenotypes of autism spectrum disorder patients and their parents%孤独谱系障碍患儿及其父母的行为表型研究

    Institute of Scientific and Technical Information of China (English)

    司徒明镜; 胡霄; 蔡佳; 郭奎芳; 黄颐

    2015-01-01

    Objective To explore the relationship between the behavior phenotypes of patients with autism spectrum disorder (ASD) and their parents through family study.Methods Forty-five core families with ASD and 30 control families from Chengdu area were examined using Autism Spectrum Quotient (AQ).Descriptive statistical analysis, correlation analysis, and Logistic regression analysis were used to investigate the effect of various factors, especially genetic factors that may affect the pathogenesis of ASD.Results The social skills factor and communication factor of the father's AQ scale, as well as the mother's age of childbearing and AQ social skills factor are related to whether children with ASD (R were 0.46, 0.39, 0.39 and 0.36, P<0.05).The communication factor of the parents' AQ and mother's attention to detail factor are related to whether children will show developmental anomaly before the age of 36 months (R were 0.55, 0.51 and 0.54, P<0.05).The social skill problems of parents and father's communication problems are risk factors for children with autism.Conclusion ASD may be influenced by both genetic and environmental factors.The autistic behavior phenotype of parents is a risk factor for ASD and is associated with developmental anomalies of early childhood.%目的 探讨孤独谱系障碍(autism spectrum disorder,ASD)患儿与父母的行为学表型之间的关系.方法 使用孤独症谱系量表(autism spectrum quotient,AQ)调查了成都地区45个ASD核心家系和30个对照家系,使用描述性统计分析、相关分析、Logistic回归分析探讨不同因素,尤其是遗传因素对ASD发病的影响.结果 父亲AQ量表的社交技巧因子、沟通因子以及母亲的生育年龄、AQ社交技巧因子与儿童患ASD相关(R分别为0.46、0.39、0.39、0.36,P<0.05).父母的AQ沟通因子以及母亲关注细节因子与儿童36个月前的发育异常呈正相关(R分别为0.55、0.51、0.54,P<0.05).父母的社交技巧问题以及

  1. Phenotypic variation in Azospirillum brasilense exposed to starvation.

    Science.gov (United States)

    Lerner, Anat; Valverde, Angel; Castro-Sowinski, Susana; Lerner, Hadas; Okon, Yaacov; Burdman, Saul

    2010-08-01

    Bacteria have developed mechanisms that allow them maintaining cell viability during starvation and resuming growth when nutrients become available. Among these mechanisms are adaptive mutations and phase variation, which are often associated with DNA rearrangements. Azospirillum brasilense is a Gram-negative, nitrogen-fixing, plant growth-promoting rhizobacterium. Here we report phenotypic variants of A. brasilense that were collected after exposure to prolonged starvation or after re-isolation from maize roots. The variants differed in several features from the parental strains, including pigmentation, aggregation ability, EPS amount and composition and LPS structure. One of the phenotypic variants, overproducing EPS and showing an altered LPS structure, was further characterized and showed differential response to several stresses and antibiotics relative to its parental strain. Characterization of the variants by repetitive-PCR revealed that phenotypic variation was often associated with DNA rearrangements.

  2. The golden ratio of gait harmony: repetitive proportions of repetitive gait phases.

    Science.gov (United States)

    Iosa, Marco; Fusco, Augusto; Marchetti, Fabio; Morone, Giovanni; Caltagirone, Carlo; Paolucci, Stefano; Peppe, Antonella

    2013-01-01

    In nature, many physical and biological systems have structures showing harmonic properties. Some of them were found related to the irrational number φ known as the golden ratio that has important symmetric and harmonic properties. In this study, the spatiotemporal gait parameters of 25 healthy subjects were analyzed using a stereophotogrammetric system with 25 retroreflective markers located on their skin. The proportions of gait phases were compared with φ, the value of which is about 1.6180. The ratio between the entire gait cycle and stance phase resulted in 1.620 ± 0.058, that between stance and the swing phase was 1.629 ± 0.173, and that between swing and the double support phase was 1.684 ± 0.357. All these ratios did not differ significantly from each other (F = 0.870, P = 0.422, repeated measure analysis of variance) or from φ (P = 0.670, 0.820, 0.422, resp., t-tests). The repetitive gait phases of physiological walking were found in turn in repetitive proportions with each other, revealing an intrinsic harmonic structure. Harmony could be the key for facilitating the control of repetitive walking. Harmony is a powerful unifying factor between seemingly disparate fields of nature, including human gait.

  3. The Golden Ratio of Gait Harmony: Repetitive Proportions of Repetitive Gait Phases

    Directory of Open Access Journals (Sweden)

    Marco Iosa

    2013-01-01

    Full Text Available In nature, many physical and biological systems have structures showing harmonic properties. Some of them were found related to the irrational number known as the golden ratio that has important symmetric and harmonic properties. In this study, the spatiotemporal gait parameters of 25 healthy subjects were analyzed using a stereophotogrammetric system with 25 retroreflective markers located on their skin. The proportions of gait phases were compared with , the value of which is about 1.6180. The ratio between the entire gait cycle and stance phase resulted in 1.620 ± 0.058, that between stance and the swing phase was 1.629 ± 0.173, and that between swing and the double support phase was 1.684 ± 0.357. All these ratios did not differ significantly from each other (, , repeated measure analysis of variance or from (, resp., t-tests. The repetitive gait phases of physiological walking were found in turn in repetitive proportions with each other, revealing an intrinsic harmonic structure. Harmony could be the key for facilitating the control of repetitive walking. Harmony is a powerful unifying factor between seemingly disparate fields of nature, including human gait.

  4. Comprehension priming as rational expectation for repetition: Evidence from syntactic processing.

    Science.gov (United States)

    Myslín, Mark; Levy, Roger

    2016-02-01

    Why do comprehenders process repeated stimuli more rapidly than novel stimuli? We consider an adaptive explanation for why such facilitation may be beneficial: priming is a consequence of expectation for repetition due to rational adaptation to the environment. If occurrences of a stimulus cluster in time, given one occurrence it is rational to expect a second occurrence closely following. Leveraging such knowledge may be particularly useful in online processing of language, where pervasive clustering may help comprehenders negotiate the considerable challenge of continual expectation update at multiple levels of linguistic structure and environmental variability. We test this account in the domain of structural priming in syntax, making use of the sentential complement-direct object (SC-DO) ambiguity. We first show that sentences containing SC continuations cluster in natural language, motivating an expectation for repetition of this structure. Second, we show that comprehenders are indeed sensitive to the syntactic clustering properties of their current environment. In a series of between-groups self-paced reading studies, we find that participants who are exposed to clusters of SC sentences subsequently process repetitions of SC structure more rapidly than participants who are exposed to the same number of SCs spaced in time, and attribute the difference to the learned degree of expectation for repetition. We model this behavior through Bayesian belief update, showing that (the optimal degree of) sensitivity to clustering properties of syntactic structures is indeed learnable through experience. Comprehension priming effects are thus consistent with rational expectation for repetition based on adaptation to the linguistic environment. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.

  5. Iconicity in Discourse: The Case of Repetition in Japanese.

    Science.gov (United States)

    Ishikawa, Minako

    This analysis of repeated utterances in Japanese conversational discourse focuses on repetition as an expression of iconicity. In the analysis of a 30-minute conversation among 4 Japanese speakers, the iconic meanings expressed by both reduplication and conversational repetition are highlighted. The iconicity characteristic of conversational data…

  6. Visual attention to advertising : The impact of motivation and repetition

    NARCIS (Netherlands)

    Pieters, RGM; Rosbergen, E; Hartog, M; Corfman, KP; Lynch, JG

    1996-01-01

    Using eye-tracking data, we examine the impact of motivation and repetition on visual attention to advertisements differing in argument quality. Our analyses indicate that repetition leads to an overall decrease in the amount of attention. However, while at first high motivation subjects attend to t

  7. On the Functions of Lexical Repetition in English Texts

    Institute of Scientific and Technical Information of China (English)

    XIAO Fuliang

    2016-01-01

    Lexical repetition, as a cohesive device of an English text, can help make up a cohesive and coherent text. Therefore, in English textual learning, it is helpful for students to know about different patterns and functions of lexical repetition to improve their English level and ability.

  8. Repetitive Concussions in Adolescent Athletes – Translating Clinical and Experimental Research into Perspectives on Rehabilitation Strategies

    Science.gov (United States)

    Semple, Bridgette D.; Lee, Sangmi; Sadjadi, Raha; Fritz, Nora; Carlson, Jaclyn; Griep, Carrie; Ho, Vanessa; Jang, Patrice; Lamb, Annick; Popolizio, Beth; Saini, Sonia; Bazarian, Jeffrey J.; Prins, Mayumi L.; Ferriero, Donna M.; Basso, D. Michele; Noble-Haeusslein, Linda J.

    2015-01-01

    Sports-related concussions are particularly common during adolescence, a time when even mild brain injuries may disrupt ongoing brain maturation and result in long-term complications. A recent focus on the consequences of repetitive concussions among professional athletes has prompted the development of several new experimental models in rodents, as well as the revision of guidelines for best management of sports concussions. Here, we consider the utility of rodent models to understand the functional consequences and pathobiology of concussions in the developing brain, identifying the unique behavioral and pathological signatures of concussive brain injuries. The impact of repetitive concussions on behavioral consequences and injury progression is also addressed. In particular, we focus on the epidemiological, clinical, and experimental evidence underlying current recommendations for physical and cognitive rest after concussion, and highlight key areas in which further research is needed. Lastly, we consider how best to promote recovery after injury, recognizing that optimally timed, activity-based rehabilitative strategies may hold promise for the adolescent athlete who has sustained single or repetitive concussions. The purpose of this review is to inform the clinical research community as it strives to develop and optimize evidence-based guidelines for the concussed adolescent, in terms of both acute and long-term management. PMID:25883586

  9. Repetitive concussions in adolescent athletes – translating clinical and experimental research into perspectives on rehabilitation strategies

    Directory of Open Access Journals (Sweden)

    Bridgette D Semple

    2015-04-01

    Full Text Available Sports-related concussions are particularly common during adolescence, a time when even mild brain injuries may disrupt ongoing brain maturation and result in long-term complications. A recent focus on the consequences of repetitive concussions amongst professional athletes has prompted the development of several new experimental models in rodents, as well as the revision of guidelines for best management of sports concussions. Here, we consider the utility of rodent models to understand the functional consequences and pathobiology of concussions in the developing brain, identifying the unique behavioral and pathological signatures of concussive brain injuries. The impact of repetitive concussions on behavioral consequences and injury progression is also addressed. In particular, we focus on the epidemiological, clinical and experimental evidence underlying current recommendations for physical and cognitive rest after concussion, and highlight key areas in which further research is needed. Lastly, we consider how best to promote recovery after injury, recognizing that optimally-timed, activity-based rehabilitative strategies may hold promise for the adolescent athlete who has sustained single or repetitive concussions. The purpose of this review is to inform the clinical research community as it strives to develop and optimize evidence-based guidelines for the concussed adolescent, in terms of both acute and long-term management.

  10. Repetitive concussions in adolescent athletes - translating clinical and experimental research into perspectives on rehabilitation strategies.

    Science.gov (United States)

    Semple, Bridgette D; Lee, Sangmi; Sadjadi, Raha; Fritz, Nora; Carlson, Jaclyn; Griep, Carrie; Ho, Vanessa; Jang, Patrice; Lamb, Annick; Popolizio, Beth; Saini, Sonia; Bazarian, Jeffrey J; Prins, Mayumi L; Ferriero, Donna M; Basso, D Michele; Noble-Haeusslein, Linda J

    2015-01-01

    Sports-related concussions are particularly common during adolescence, a time when even mild brain injuries may disrupt ongoing brain maturation and result in long-term complications. A recent focus on the consequences of repetitive concussions among professional athletes has prompted the development of several new experimental models in rodents, as well as the revision of guidelines for best management of sports concussions. Here, we consider the utility of rodent models to understand the functional consequences and pathobiology of concussions in the developing brain, identifying the unique behavioral and pathological signatures of concussive brain injuries. The impact of repetitive concussions on behavioral consequences and injury progression is also addressed. In particular, we focus on the epidemiological, clinical, and experimental evidence underlying current recommendations for physical and cognitive rest after concussion, and highlight key areas in which further research is needed. Lastly, we consider how best to promote recovery after injury, recognizing that optimally timed, activity-based rehabilitative strategies may hold promise for the adolescent athlete who has sustained single or repetitive concussions. The purpose of this review is to inform the clinical research community as it strives to develop and optimize evidence-based guidelines for the concussed adolescent, in terms of both acute and long-term management.

  11. Repetitive DNA Sequences in Wheat and Its Relatives

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xue-yong; LI Da-yong

    2001-01-01

    Repetitive DNA sequences form a large portion of eukaryote genomes. Using wheat ( Triticum )as a model, the classification, features and functions of repetitive DNA sequences in the Tritieeae grass tribe is reviewed as well as the role of these sequences in genome differentiation, control and regulation of homologous chromosome synapsis and pairing. Transposable elements, as an important portion of dispersed repetitives,may play an essential role in gene mutation of the host. Dynamic models for change of copy number and sequences of the repetitive family are also presented after the models of Charlesworth et al. Application of repetitive DNA sequences in the study of evolution, chromosome fingerprinting and marker assisted gene transfer and breeding are described by taking wheat as an example.

  12. Nonword Repetition and Speech Motor Control in Children

    Directory of Open Access Journals (Sweden)

    Christina Reuterskiöld

    2015-01-01

    Full Text Available This study examined how familiarity of word structures influenced articulatory control in children and adolescents during repetition of real words (RWs and nonwords (NWs. A passive reflective marker system was used to track articulator movement. Measures of accuracy were obtained during repetition of RWs and NWs, and kinematic analysis of movement duration and variability was conducted. Participants showed greater consonant and vowel accuracy during RW than NW repetition. Jaw movement duration was longer in NWs compared to RWs across age groups, and younger children produced utterances with longer jaw movement duration compared to older children. Jaw movement variability was consistently greater during repetition of NWs than RWs in both groups of participants. The results indicate that increases in phonological short-term memory demands affect articulator movement. This effect is most pronounced in younger children. A range of skills may develop during childhood, which supports NW repetition skills.

  13. Soliton repetition rate in a silicon-nitride microresonator

    CERN Document Server

    Bao, Chengying; Wang, Cong; Jaramillo-Villegas, Jose A; Leaird, Daniel E; Qi, Minghao; Weiner, Andrew M

    2016-01-01

    The repetition rate of a Kerr comb comprising a single soliton in an anomalous dispersion silicon nitride microcavity is measured as a function of pump frequency tuning. The contributions from the Raman soliton self-frequency shift (SSFS) and from thermal effects are evaluated both experimentally and theoretically; the SSFS is found to dominate the changes in repetition rate. The relationship between the changes in repetition rate and pump frequency detuning is found to be independent of the nonlinearity coefficient and dispersion of the cavity. Modeling of the repetition rate change by using the generalized Lugiato-Lefever equation is discussed; the Kerr shock is found to have only a minor effect on repetition rate for cavity solitons with duration down to ~50 fs.

  14. Soliton repetition rate in a silicon-nitride microresonator.

    Science.gov (United States)

    Bao, Chengying; Xuan, Yi; Wang, Cong; Jaramillo-Villegas, Jose A; Leaird, Daniel E; Qi, Minghao; Weiner, Andrew M

    2017-02-15

    The repetition rate of a Kerr comb composed of a single soliton in an anomalous group velocity dispersion silicon-nitride microcavity is measured as a function of pump frequency. By comparing operation in the soliton and non-soliton states, the contributions from the Raman soliton self-frequency shift (SSFS) and the thermal effects are evaluated; the SSFS is found to dominate the changes in the repetition rate, similar to silica cavities. The relationship between the changes in the repetition rate and the pump frequency detuning is found to be independent of the nonlinearity coefficient and dispersion of the cavity. Modeling of the repetition rate change by using the generalized Lugiato-Lefever equation is discussed; the Kerr shock is found to have only a minor effect on repetition rate for cavity solitons with duration down to ∼50  fs.

  15. Self-controlled KR schedules: does repetition order matter?

    Science.gov (United States)

    Patterson, Jae T; Carter, Michael J; Hansen, Steve

    2013-08-01

    The impact of an experimenter-defined repetition schedule on the utility of a self-controlled KR context during motor skill acquisition was examined. Participants were required to learn three novel spatial-temporal tasks in either a random or blocked repetition schedule with or without the opportunity to control their KR. Results from the retention period showed that participants provided control over their KR schedule in a random repetition schedule demonstrated superior learning. However, performance measures from the transfer test showed that, independent of repetition schedule, learners provided the opportunity to control their KR schedule demonstrated superior transfer performance compared to their yoked counterparts. The dissociated impact of repetition schedule and self-controlled KR schedules on retention and transfer is discussed.

  16. Repetition and Emotive Communication in Music Versus Speech

    Directory of Open Access Journals (Sweden)

    Elizabeth Hellmuth eMargulis

    2013-04-01

    Full Text Available Music and speech are often placed alongside one another as comparative cases. Their relative overlaps and disassociations have been well explored (e.g. Patel, 2010. But one key attribute distinguishing these two domains has often been overlooked: the greater preponderance of repetition in music in comparison to speech. Recent fMRI studies have shown that familiarity – achieved through repetition – is a critical component of emotional engagement with music (Pereira et al., 2011. If repetition is fundamental to emotional responses to music, and repetition is a key distinguisher between the domains of music and speech, then close examination of the phenomenon of repetition might help clarify the ways that music elicits emotion differently than speech.

  17. Physical Characteristics Underpinning Repetitive Lunging in Fencing.

    Science.gov (United States)

    Turner, Anthony N; Marshall, Geoff; Phillips, James; Noto, Angelo; Buttigieg, Conor; Chavda, Shyam; Downing, William; Atlay, Nathan; Dimitriou, Lygeri; Kilduff, Laim

    2016-11-01

    Turner, AN, Marshall, G, Phillips, J, Noto, A, Buttigieg, C, Chavda, S, Downing, W, Atlay, N, Dimitriou, L, and Kilduff, L. Physical characteristics underpinning repetitive lunging in fencing. J Strength Cond Res 30(11): 3134-3139, 2016-Given the repetitive demand to execute lunging and changes in direction within fencing, the ability to sustain these at maximal capacity is fundamental to performance. The aim of this study was threefold. First, to provide normative values for this variable referred to as repeat lunge ability (RLA) and second to identify the physical characteristics that underpin it. Third, was to establish if a cause and effect relationship existed by training the associated characteristics. Assessment of lower-body power, reactive strength, speed, change of direction speed (CODS), and a sport-specific RLA were conducted on senior and junior elite male fencers (n = 36). Fencers were on average (±SD) 18.9 ± 3.2 years of age, 174.35 ± 10.42 cm tall, 70.67 ± 7.35 kg in mass, and 8.5 ± 4.2 years fencing experience. The RLA test had average work times of 16.03 ± 1.40 seconds and demonstrated "large" to "very large" associations with all tested variables, but in particular CODS (r = 0.70) and standing broad jump (SBJ; r = -0.68). Through linear regression analysis, these also provided a 2-predictor model accounting for 61% of the common variance associated with RLA. A cause and effect relationship with SBJ and CODS was confirmed by the training group, where RLA performance in these fencers improved from 15.80 ± 1.07 to 14.90 ± 0.86 seconds, with the magnitude of change reported as "moderate" (effect size (ES) = 0.93). Concurrent improvements were also noted in both SBJ (216.86 ± 17.15 vs. 221.71 ± 17.59 cm) and CODS (4.44 ± 0.29 vs. 4.31 ± 0.09 seconds) and while differences were only significant in SBJ, magnitudes of change were classed as "small" (ES = 0.28) and "moderate" (ES = 0.61), respectively. In conclusion, to improve RLA strength

  18. Improved discrimination of visual stimuli following repetitive transcranial magnetic stimulation.

    Directory of Open Access Journals (Sweden)

    Michael L Waterston

    Full Text Available BACKGROUND: Repetitive transcranial magnetic stimulation (rTMS at certain frequencies increases thresholds for motor-evoked potentials and phosphenes following stimulation of cortex. Consequently rTMS is often assumed to introduce a "virtual lesion" in stimulated brain regions, with correspondingly diminished behavioral performance. METHODOLOGY/PRINCIPAL FINDINGS: Here we investigated the effects of rTMS to visual cortex on subjects' ability to perform visual psychophysical tasks. Contrary to expectations of a visual deficit, we find that rTMS often improves the discrimination of visual features. For coarse orientation tasks, discrimination of a static stimulus improved consistently following theta-burst stimulation of the occipital lobe. Using a reaction-time task, we found that these improvements occurred throughout the visual field and lasted beyond one hour post-rTMS. Low-frequency (1 Hz stimulation yielded similar improvements. In contrast, we did not find consistent effects of rTMS on performance in a fine orientation discrimination task. CONCLUSIONS/SIGNIFICANCE: Overall our results suggest that rTMS generally improves or has no effect on visual acuity, with the nature of the effect depending on the type of stimulation and the task. We interpret our results in the context of an ideal-observer model of visual perception.

  19. Variation and repetition in the spelling of young children.

    Science.gov (United States)

    Treiman, Rebecca; Decker, Kristina; Kessler, Brett; Pollo, Tatiana Cury

    2015-04-01

    A number of investigators have suggested that young children, even those who do not yet represent the phonological forms of words in their spellings, tend to use different strings of letters for different words. However, empirical evidence that children possess a concept of between-word variation has been weak. In a study by Pollo, Kessler, and Treiman (2009), in fact, prephonological spellers were more likely to write different words in the same way than would be expected on the basis of chance, not less likely. In the current study, preschool-age prephonological and phonological spellers showed a tendency to repeat spellings and parts of spellings that they had recently used. However, even prephonological spellers (mean age∼4 years 8 months) showed more repetition when spelling the same word twice in succession than when spelling different words. The results suggest that children who have not yet learned to use writing to represent the sounds of speech show some knowledge that writing represents words and, thus, should vary to show differences between them. The results further suggest that in spelling, as in other domains, children have a tendency to repeat recent behaviors. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Creation of an ethanol-tolerant Saccharomyces cerevisiae strain by 266 nm laser radiation and repetitive cultivation.

    Science.gov (United States)

    Zhang, Min; Zhu, Rongrong; Zhang, Minfeng; Wang, Shilong

    2014-11-01

    Laser radiation is an efficient approach for rapid improvement of industrial microbial phenotypes. To improve ethanol tolerance in Saccharomyces cerevisiae strains, a 266 nm laser radiation with the use of repetitive cultivation was explored in this work. After irradiated by 266 nm laser radiation and repetitive cultivation, a genetically stable SM4 strain was obtained. The SM4 strain could grow on YPD plate with extra 15% (v/v) ethanol. Moreover, the ethanol production performance of SM4 strain was 29.25% more than that of the wild type strain when they were cultivated in 5% (v/v) ethanol fermentation medium for 72 h. The DNA mutation was the possible characters for the phenotype of SM4 strain. Overall, the 266 nm laser radiation and repetitive cultivation approach might be a novel and useful for breeding fermentation microorganisms. Copyright © 2014 The Society for Biotechnology, Japan. Published by Elsevier B.V. All rights reserved.

  1. Neuroendocrine-immune circuits, phenotypes, and interactions.

    Science.gov (United States)

    Ashley, Noah T; Demas, Gregory E

    2017-01-01

    Multidirectional interactions among the immune, endocrine, and nervous systems have been demonstrated in humans and non-human animal models for many decades by the biomedical community, but ecological and evolutionary perspectives are lacking. Neuroendocrine-immune interactions can be conceptualized using a series of feedback loops, which culminate into distinct neuroendocrine-immune phenotypes. Behavior can exert profound influences on these phenotypes, which can in turn reciprocally modulate behavior. For example, the behavioral aspects of reproduction, including courtship, aggression, mate selection and parental behaviors can impinge upon neuroendocrine-immune interactions. One classic example is the immunocompetence handicap hypothesis (ICHH), which proposes that steroid hormones act as mediators of traits important for female choice while suppressing the immune system. Reciprocally, neuroendocrine-immune pathways can promote the development of altered behavioral states, such as sickness behavior. Understanding the energetic signals that mediate neuroendocrine-immune crosstalk is an active area of research. Although the field of psychoneuroimmunology (PNI) has begun to explore this crosstalk from a biomedical standpoint, the neuroendocrine-immune-behavior nexus has been relatively underappreciated in comparative species. The field of ecoimmunology, while traditionally emphasizing the study of non-model systems from an ecological evolutionary perspective, often under natural conditions, has focused less on the physiological mechanisms underlying behavioral responses. This review summarizes neuroendocrine-immune interactions using a comparative framework to understand the ecological and evolutionary forces that shape these complex physiological interactions. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Generation of low-timing-jitter femtosecond pulse trains with 2 GHz repetition rate via external repetition rate multiplication.

    Science.gov (United States)

    Chen, Jian; Sickler, Jason W; Fendel, Peter; Ippen, Erich P; Kärtner, Franz X; Wilken, Tobias; Holzwarth, Ronald; Hänsch, Theodor W

    2008-05-01

    Generation of low-timing-jitter 150 fs pulse trains at 1560 nm with 2 GHz repetition rate is demonstrated by locking a 200 MHz fundamental polarization additive-pulse mode-locked erbium fiber laser to high-finesse external Fabry-Perot cavities. The timing jitter and relative intensity noise of the repetition-rate multiplied pulse train are investigated.

  3. [Rehabilitation Using Repetitive Transcranial Magnetic Stimulation].

    Science.gov (United States)

    Takeuchi, Naoyuki; Izumi, Shin-Ichi

    2017-03-01

    Various novel stroke rehabilitative methods have been developed based on findings in basic science and clinical research. Recently, many reports have shown that repetitive transcranial magnetic stimulation (rTMS) improves function in stroke patients by altering the excitability of the human cortex. The interhemispheric competition model proposes that deficits in stroke patients are due to reduced output from the affected hemisphere and excessive interhemispheric inhibition from the unaffected hemisphere to the affected hemisphere. The interhemispheric competition model indicates that improvement in deficits can be achieved either by increasing the excitability of the affected hemisphere using excitatory rTMS or by decreasing the excitability of the unaffected hemisphere using inhibitory rTMS. Recovery after stroke is related to neural plasticity, which involves developing new neural connections, acquiring new functions, and compensating for impairments. Artificially modulating the neural network by rTMS may induce a more suitable environment for use-dependent plasticity and also may interfere with maladaptive neural activation, which weakens function and limits recovery. There is potential, therefore, for rTMS to be used as an adjuvant therapy for developed neurorehabilitation techniques in stroke patients.

  4. SI Engine with repetitive NS spark plug

    Science.gov (United States)

    Pancheshniy, Sergey; Nikipelov, Andrey; Anokhin, Eugeny; Starikovskiy, Andrey; Laplase Team; Mipt Team; Pu Team

    2013-09-01

    Now de-facto the only technology for fuel-air mixtures ignition in IC engines exists. It is a spark discharge of millisecond duration in a short discharge gap. The reason for such a small variety of methods of ignition initiation is very specific conditions of the engine operation. First, it is very high-pressure of fuel-air mixture - from 5-7 atmospheres in old-type engines and up to 40-50 atmospheres on the operating mode of HCCI. Second, it is a very wide range of variation of the oxidizer/fuel ratio in the mixture - from almost stoichiometric (0.8-0.9) at full load to very lean (φ = 0.3-0.5) mixtures at idle and/or economical cruising mode. Third, the high velocity of the gas in the combustion chamber (up to 30-50 m/s) resulting in a rapid compression of swirling inlet flow. The paper presents the results of tests of distributed spark ignition system powered by repetitive pulse nanosecond discharge. Dynamic pressure measurements show the increased pressure and frequency stability for nanosecond excitation in comparison with the standard spark plug. Excitation by single nanosecond high-voltage pulse and short train of pulses was examined. In all regimes the nanosecond pulsed excitation demonstrate a better performance.

  5. Repetitive transcranial magnetic stimulation and drug addiction.

    Science.gov (United States)

    Barr, Mera S; Farzan, Faranak; Wing, Victoria C; George, Tony P; Fitzgerald, Paul B; Daskalakis, Zafiris J

    2011-10-01

    Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive brain stimulation technique that is now being tested for its ability to treat addiction. This review discusses current research approaches and results of studies which measured the therapeutic use of rTMS to treat tobacco, alcohol and illicit drug addiction. The research in this area is limited and therefore all studies evaluating the therapeutic use of rTMS in tobacco, alcohol or illicit drug addiction were retained including case studies through NCBI PubMed ( http://www.ncbi.nlm.nih.gov ) and manual searches. A total of eight studies were identified that examined the ability of rTMS to treat tobacco, alcohol and cocaine addiction. The results of this review indicate that rTMS is effective in reducing the level of cravings for smoking, alcohol, and cocaine when applied at high frequencies to the dorsolateral prefrontal cortex (DLPFC). Furthermore, these studies suggest that repeated sessions of high frequency rTMS over the DLPFC may be most effective in reducing the level of smoking and alcohol consumption. Although work in this area is limited, this review indicates that rTMS is a promising modality for treating drug addiction.

  6. Development of a repetitive compact torus injector

    Science.gov (United States)

    Onchi, Takumi; McColl, David; Dreval, Mykola; Rohollahi, Akbar; Xiao, Chijin; Hirose, Akira; Zushi, Hideki

    2013-10-01

    A system for Repetitive Compact Torus Injection (RCTI) has been developed at the University of Saskatchewan. CTI is a promising fuelling technology to directly fuel the core region of tokamak reactors. In addition to fuelling, CTI has also the potential for (a) optimization of density profile and thus bootstrap current and (b) momentum injection. For steady-state reactor operation, RCTI is necessary. The approach to RCTI is to charge a storage capacitor bank with a large capacitance and quickly charge the CT capacitor bank through a stack of integrated-gate bipolar transistors (IGBTs). When the CT bank is fully charged, the IGBT stack will be turned off to isolate banks, and CT formation/acceleration sequence will start. After formation of each CT, the fast bank will be replenished and a new CT will be formed and accelerated. Circuits for the formation and the acceleration in University of Saskatchewan CT Injector (USCTI) have been modified. Three CT shots at 10 Hz or eight shots at 1.7 Hz have been achieved. This work has been sponsored by the CRC and NSERC, Canada.

  7. Repetition suppression in auditory-motor regions to pitch and temporal structure in music.

    Science.gov (United States)

    Brown, Rachel M; Chen, Joyce L; Hollinger, Avrum; Penhune, Virginia B; Palmer, Caroline; Zatorre, Robert J

    2013-02-01

    Music performance requires control of two sequential structures: the ordering of pitches and the temporal intervals between successive pitches. Whether pitch and temporal structures are processed as separate or integrated features remains unclear. A repetition suppression paradigm compared neural and behavioral correlates of mapping pitch sequences and temporal sequences to motor movements in music performance. Fourteen pianists listened to and performed novel melodies on an MR-compatible piano keyboard during fMRI scanning. The pitch or temporal patterns in the melodies either changed or repeated (remained the same) across consecutive trials. We expected decreased neural response to the patterns (pitch or temporal) that repeated across trials relative to patterns that changed. Pitch and temporal accuracy were high, and pitch accuracy improved when either pitch or temporal sequences repeated over trials. Repetition of either pitch or temporal sequences was associated with linear BOLD decrease in frontal-parietal brain regions including dorsal and ventral premotor cortex, pre-SMA, and superior parietal cortex. Pitch sequence repetition (in contrast to temporal sequence repetition) was associated with linear BOLD decrease in the intraparietal sulcus (IPS) while pianists listened to melodies they were about to perform. Decreased BOLD response in IPS also predicted increase in pitch accuracy only when pitch sequences repeated. Thus, behavioral performance and neural response in sensorimotor mapping networks were sensitive to both pitch and temporal structure, suggesting that pitch and temporal structure are largely integrated in auditory-motor transformations. IPS may be involved in transforming pitch sequences into spatial coordinates for accurate piano performance.

  8. Repetitive energy transfer from an inductive energy store

    Energy Technology Data Exchange (ETDEWEB)

    Honig, E.M.

    1984-01-01

    The theoretical and experimental results of a research program aimed at finding practical ways to transfer energy repetitively from an inductive energy store to various loads are discussed. The objectives were to investigate and develop the high power opening switches and transfer circuits needed to enable high-repetition-rate operation of such systems, including a feasibility demonstration at a current level near 10 kA and a pulse repetition rate of 1-10 kpps with a 1-ohm load. The requirements of nonlinear, time-varying loads, such as the railgun electromagnetic launcher, were also addressed. Energy storage capability is needed for proper power conditioning in systems where the duty factor of the output pulse train is low. Inductive energy storage is attractive because it has both a high energy storage density and a fast discharge capability. By producing a pulse train with a peak power of 75 MW at a pulse repetition rate of 5 kpps in a one-ohm load system, this research program was the first to demonstrate fully-controlled, high-power, high-repetition-rate operation of an inductive energy storage and transfer system with survivable switches. Success was made possible by using triggered vacuum gap switches as repetitive, current-zero opening switches and developing several new repetitive transfer circuits using the counterpulse technique.

  9. Skill learning in mirror reading: how repetition determines acquisition.

    Science.gov (United States)

    Ofen-Noy, N; Dudai, Y; Karni, A

    2003-07-01

    Practice makes perfect, but the role of repetitions in skill learning is not yet fully understood. For example, given a similar number of trials on a given task, it is debated whether repeating and non-repeating items are learned by the same neural process. When one is given training with both types of items--does one learn two separate skills, or only one? Here we show, using a mirror reading task, that practice trials with trial-unique words, and practice trials with repeated words, count towards learning to a different degree. There was no interaction between the time-course of learning repeated and unique words even within the same individuals given mixed training. While repeated words were learned faster than unique words, the repetitions-dependent gains diminished with training beyond a small number of repetitions. Moreover, the gains in performance could not be accounted for solely by the number of repetitions, as assumed by power-law models of learning; rather, the passage of time was a critical factor. Finally, our results suggest that although both repeated and new words were learned by both declarative and procedural memory mechanisms, even a single repetition of specific words could lead to the establishment of a selective differential representation in memory. The results are compatible with the notion of a repetition-sensitive process, triggered by specific repeating events. This 'repetition counter' may be a critical trigger for the effective formation of procedural as well as some type of declarative memory.

  10. Repetition-based Interactive Facade Modeling

    KAUST Repository

    AlHalawani, Sawsan

    2012-07-01

    Modeling and reconstruction of urban environments has gained researchers attention throughout the past few years. It spreads in a variety of directions across multiple disciplines such as image processing, computer graphics and computer vision as well as in architecture, geoscience and remote sensing. Having a virtual world of our real cities is very attractive in various directions such as entertainment, engineering, governments among many others. In this thesis, we address the problem of processing a single fa cade image to acquire useful information that can be utilized to manipulate the fa cade and generate variations of fa cade images which can be later used for buildings\\' texturing. Typical fa cade structures exhibit a rectilinear distribution where in windows and other elements are organized in a grid of horizontal and vertical repetitions of similar patterns. In the firt part of this thesis, we propose an efficient algorithm that exploits information obtained from a single image to identify the distribution grid of the dominant elements i.e. windows. This detection method is initially assisted with the user marking the dominant window followed by an automatic process for identifying its repeated instances which are used to define the structure grid. Given the distribution grid, we allow the user to interactively manipulate the fa cade by adding, deleting, resizing or repositioning the windows in order to generate new fa cade structures. Having the utility for the interactive fa cade is very valuable to create fa cade variations and generate new textures for building models. Ultimately, there is a wide range of interesting possibilities of interactions to be explored.

  11. Understanding communicative actions: a repetitive TMS study.

    Science.gov (United States)

    Stolk, Arjen; Noordzij, Matthijs L; Volman, Inge; Verhagen, Lennart; Overeem, Sebastiaan; van Elswijk, Gijs; Bloem, Bas; Hagoort, Peter; Toni, Ivan

    2014-02-01

    Despite the ambiguity inherent in human communication, people are remarkably efficient in establishing mutual understanding. Studying how people communicate in novel settings provides a window into the mechanisms supporting the human competence to rapidly generate and understand novel shared symbols, a fundamental property of human communication. Previous work indicates that the right posterior superior temporal sulcus (pSTS) is involved when people understand the intended meaning of novel communicative actions. Here, we set out to test whether normal functioning of this cerebral structure is required for understanding novel communicative actions using inhibitory low-frequency repetitive transcranial magnetic stimulation (rTMS). A factorial experimental design contrasted two tightly matched stimulation sites (right pSTS vs left MT+, i.e., a contiguous homotopic task-relevant region) and tasks (a communicative task vs a visual tracking task that used the same sequences of stimuli). Overall task performance was not affected by rTMS, whereas changes in task performance over time were disrupted according to TMS site and task combinations. Namely, rTMS over pSTS led to a diminished ability to improve action understanding on the basis of recent communicative history, while rTMS over MT+ perturbed improvement in visual tracking over trials. These findings qualify the contributions of the right pSTS to human communicative abilities, showing that this region might be necessary for incorporating previous knowledge, accumulated during interactions with a communicative partner, to constrain the inferential process that leads to action understanding. Copyright © 2013 Elsevier Ltd. All rights reserved.

  12. Epithelial topography for repetitive tooth formation

    Directory of Open Access Journals (Sweden)

    Marcia Gaete

    2015-12-01

    Full Text Available During the formation of repetitive ectodermally derived organs such as mammary glands, lateral line and teeth, the tissue primordium iteratively initiates new structures. In the case of successional molar development, new teeth appear sequentially in the posterior region of the jaw from Sox2+ cells in association with the posterior aspect of a pre-existing tooth. The sequence of molar development is well known, however, the epithelial topography involved in the formation of a new tooth is unclear. Here, we have examined the morphology of the molar dental epithelium and its development at different stages in the mouse in vivo and in molar explants. Using regional lineage tracing we show that within the posterior tail of the first molar the primordium for the second and third molar are organized in a row, with the tail remaining in connection with the surface, where a furrow is observed. The morphology and Sox2 expression of the tail retains characteristics reminiscent of the earlier stages of tooth development, such that position along the A-P axes of the tail correlates with different temporal stages. Sox9, a stem/progenitor cell marker in other organs, is expressed mainly in the suprabasal epithelium complementary with Sox2 expression. This Sox2 and Sox9 expressing molar tail contains actively proliferating cells with mitosis following an apico-basal direction. Snail2, a transcription factor implicated in cell migration, is expressed at high levels in the tip of the molar tail while E-cadherin and laminin are decreased. In conclusion, our studies propose a model in which the epithelium of the molar tail can grow by posterior movement of epithelial cells followed by infolding and stratification involving a population of Sox2+/Sox9+ cells.

  13. Clinical application of repetitive transcranial magnetic stimulation in stroke rehabilitation☆

    Science.gov (United States)

    Shin, Joonho; Yang, EunJoo; Cho, KyeHee; Barcenas, Carmelo L; Kim, Woo Jin; Min, Yusun; Paik, Nam-Jong

    2012-01-01

    Proper stimulation to affected cerebral hemisphere would promote the functional recovery of patients with stroke. Effects of repetitive transcranial magnetic stimulation on cortical excitability can be can be altered by the stimulation frequency, intensity and duration. There has been no consistent recognition regarding the best stimulation frequency and intensity. This study reviews the intervention effects of repetitive transcranial stimulation on motor impairment, dysphagia, visuospatial neglect and aphasia, and summarizes the stimulation frequency, intensity and area for repetitive transcranial magnetic stimulation to yield the best therapeutic effects. PMID:25745455

  14. Clinical application of repetitive transcranial magnetic stimulation in stroke rehabilitation

    Institute of Scientific and Technical Information of China (English)

    Joonho Shin; EunJoo Yang; KyeHee Cho; Carmelo L Barcenas; Woo Jin Kim; Yusun Min; Nam-Jong Paik

    2012-01-01

    Proper stimulation to affected cerebral hemisphere would promote the functional recovery of patients with stroke. Effects of repetitive transcranial magnetic stimulation on cortical excitability can be can be altered by the stimulation frequency, intensity and duration. There has been no consistent recognition regarding the best stimulation frequency and intensity. This study reviews the intervention effects of repetitive transcranial stimulation on motor impairment, dysphagia, visuospatial neglect and aphasia, and summarizes the stimulation frequency, intensity and area for repetitive transcranial magnetic stimulation to yield the best therapeutic effects.

  15. Memantine reduces stealing behavior and impulsivity in kleptomania

    DEFF Research Database (Denmark)

    Grant, Jon E; Odlaug, Brian Lawrence; Schreiber, Liana R N

    2013-01-01

    Kleptomania is characterized by repetitive stealing behavior and has been associated with deleterious unwanted outcomes including forensic contact and increased rates of suicidal behavior. Very few trials have been conducted to investigate pharmacological treatment options for this neglected...

  16. Huntington's Disease: Relationship Between Phenotype and Genotype.

    Science.gov (United States)

    Sun, Yi-Min; Zhang, Yan-Bin; Wu, Zhi-Ying

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and cognitive impairment. It is caused by the dynamic mutation in CAG triplet repeat number in exon 1 of huntingtin (HTT) gene. The symptoms of HD especially the age at onset are related to the genetic characteristics, both the CAG triplet repeat and the modified factors. Here, we reviewed the recent advancement on the genotype-phenotype relationship of HD, mainly focus on the characteristics of different expanded CAG repeat number, genetic modifiers, and CCG repeat number in the 3' end of CAG triplet repeat and their effects on the phenotype. We also reviewed the special forms of HD (juvenile HD, atypical onset HD, and homozygous HD) and their phenotype-genotype correlations. The review will aid clinicians to predict the onset age and disease course of HD, give the genetic counseling, and accelerate research into the HD mechanism.

  17. The duplication 17p13.3 phenotype

    DEFF Research Database (Denmark)

    Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica

    2013-01-01

    additional patients from 21 families to further delineate the clinical, neurological, behavioral, and brain imaging findings. We found a highly diverse phenotype with inter- and intrafamilial variability, especially in cognitive development. The most specific phenotype occurred in individuals with large....... Older patients were often overweight. Three variant phenotypes included cleft lip/palate (CLP), split hand/foot with long bone deficiency (SHFLD), and a connective tissue phenotype resembling Marfan syndrome. The duplications in patients with clefts appear to disrupt ABR, while the SHFLD phenotype...... was associated with duplication of BHLHA9 as noted in two recent reports. The connective tissue phenotype did not have a convincing critical region. Our experience with this large cohort expands knowledge of this diverse duplication syndrome....

  18. Shortening of subjective visual intervals followed by repetitive stimulation.

    Directory of Open Access Journals (Sweden)

    Fuminori Ono

    Full Text Available Our previous research demonstrated that repetitive tone stimulation shortened the perceived duration of the preceding auditory time interval. In this study, we examined whether repetitive visual stimulation influences the perception of preceding visual time intervals. Results showed that a time interval followed by a high-frequency visual flicker was perceived as shorter than that followed by a low-frequency visual flicker. The perceived duration decreased as the frequency of the visual flicker increased. The visual flicker presented in one hemifield shortened the apparent time interval in the other hemifield. A final experiment showed that repetitive tone stimulation also shortened the perceived duration of preceding visual time intervals. We concluded that visual flicker shortened the perceived duration of preceding visual time intervals in the same way as repetitive auditory stimulation shortened the subjective duration of preceding tones.

  19. The relationship between task repetition and language proficiency

    Directory of Open Access Journals (Sweden)

    Ahmad Mojavezi

    2014-01-01

    Full Text Available Task repetition is now considered as an important task-based implementation variable which can affect complexity, accuracy, and fluency of L2 speech. However, in order to move towards theorizing the role of task repetition in second language acquisition, it is necessary that individual variables be taken into account. The present study aimed to investigate the way task repetition correlates with language proficiency and the differential effects that task repetition might have on the complexity, accuracy, and fluency of L2 learners with different levels of proficiency. Fifty language learners of different levels of proficiency, selected from two different language centers, participated in this study. They were asked to perform an oral narrative task twice with a one-week interval. Results revealed that, compared to the participants with lower L2 proficiency, participants with higher levels of L2 proficiency produced more complex, accurate, and fluent speech on the second encounter with the same task.

  20. The repetition effect in building and construction works

    DEFF Research Database (Denmark)

    Gottlieb, Stefan Christoffer; Haugbølle, Kim

    are then applied on the Public Transport Authorities' main account structure of units and costs, and a method for assessing the possibilities of achieving effects of repetition for each account is described. Finally, the report summarises the core conditions necessary to take into consideration in relation......This report summarises the results from the work undertaken for the Public Transport Authority on the effect of learning and repetition in building and construction works. The results are applied by the Public Transport Authority in a new budgeting model, while the agency investigates...... the establishment of a new railway between Copenhagen and Ringsted. Drawing on an extensive literature review, the effect of repetition is determined to be in the range of 6-12 %. Further, the report identifies a series of factors affecting the possibilities of achieving effects of repetition. These factors...

  1. Differential preparation intervals modulate repetition processes in task switching: an ERP study

    Directory of Open Access Journals (Sweden)

    Min eWang

    2016-02-01

    Full Text Available In task-switching paradigms, reaction times (RTs switch cost (SC and the neural correlates underlying the SC are affected by different preparation intervals. However, little is known about the effect of the preparation interval on the repetition processes in task-switching. To examine this effect we utilized a cued task-switching paradigm with long sequences of repeated trials. Response-stimulus intervals (RSI and cue-stimulus intervals (CSI were manipulated in short and long conditions. Electroencephalography (EEG and behavioral data were recorded. We found that with increasing repetitions, RTs were faster in the short CSI conditions, while P3 amplitudes decreased in the LS (long RSI and short CSI conditions. Positive correlations between RT benefit and P3 activation decrease (repeat 1 minus repeat 5, and between the slope of the RT and P3 regression lines were observed only in the LS condition. Our findings suggest that differential preparation intervals modulate repetition processes in task switching.

  2. Ultrafast high-repetition imaging of fuel sprays using picosecond fiber laser.

    Science.gov (United States)

    Purwar, Harsh; Wang, Hongjie; Tang, Mincheng; Idlahcen, Saïd; Rozé, Claude; Blaisot, Jean-Bernard; Godin, Thomas; Hideur, Ammar

    2015-12-28

    Modern diesel injectors operate at very high injection pressures of about 2000 bar resulting in injection velocities as high as 700 m/s near the nozzle outlet. In order to better predict the behavior of the atomization process at such high pressures, high-resolution spray images at high repetition rates must be recorded. However, due to extremely high velocity in the near-nozzle region, high-speed cameras fail to avoid blurring of the structures in the spray images due to their exposure time. Ultrafast imaging featuring ultra-short laser pulses to freeze the motion of the spray appears as an well suited solution to overcome this limitation. However, most commercial high-energy ultrafast sources are limited to a few kHz repetition rates. In the present work, we report the development of a custom-designed picosecond fiber laser generating ∼ 20 ps pulses with an average power of 2.5 W at a repetition rate of 8.2 MHz, suitable for high-speed imaging of high-pressure fuel jets. This fiber source has been proof tested by obtaining backlight images of diesel sprays issued from a single-orifice injector at an injection pressure of 300 bar. We observed a consequent improvement in terms of image resolution compared to standard white-light illumination. In addition, the compactness and stability against perturbations of our fiber laser system makes it particularly suitable for harsh experimental conditions.

  3. The DFNA10 phenotype.

    NARCIS (Netherlands)

    Leenheer, E. de; Huygen, P.L.M.; Wayne, S.; Smith, R.J.H.; Cremers, C.W.R.J.

    2001-01-01

    We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3-23.2). Cross-sectional analysis of air conduction threshold-on-age data from all available last-

  4. Mixed phenotype acute leukemia

    Institute of Scientific and Technical Information of China (English)

    Ye Zixing; Wang Shujie

    2014-01-01

    Objective To highlight the current understanding of mixed phenotype acute leukemia (MPAL).Data sources We collected the relevant articles in PubMed (from 1985 to present),using the terms "mixed phenotype acute leukemia","hybrid acute leukemia","biphenotypic acute leukemia",and "mixed lineage leukemia".We also collected the relevant studies in WanFang Data base (from 2000 to present),using the terms "mixed phenotype acute leukemia" and "hybrid acute leukemia".Study selection We included all relevant studies concerning mixed phenotype acute leukemia in English and Chinese version,with no limitation of research design.The duplicated articles are excluded.Results MPAL is a rare subgroup of acute leukemia which expresses the myeloid and lymphoid markers simultaneously.The clinical manifestations of MPAL are similar to other acute leukemias.The World Health Organization classification and the European Group for Immunological classification of Leukaemias 1998 cdteria are most widely used.MPAL does not have a standard therapy regimen.Its treatment depends mostly on the patient's unique immunophenotypic and cytogenetic features,and also the experience of individual physician.The lack of effective treatment contributes to an undesirable prognosis.Conclusion Our understanding about MPAL is still limited.The diagnostic criteria have not been unified.The treatment of MPAL remains to be investigated.The prognostic factor is largely unclear yet.A better diagnostic cdteria and targeted therapeutics will improve the therapy effect and a subsequently better prognosis.

  5. COPD: Definition and Phenotypes

    DEFF Research Database (Denmark)

    Vestbo, J.

    2014-01-01

    particles or gases. Exacerbations and comorbidities contribute to the overall severity in individual patients. The evolution of this definition and the diagnostic criteria currently in use are discussed. COPD is increasingly divided in subgroups or phenotypes based on specific features and association...

  6. Social-Cognition and the Broad Autism Phenotype: Identifying Genetically Meaningful Phenotypes

    Science.gov (United States)

    Losh, Molly; Piven, Joseph

    2007-01-01

    Background: Strong evidence from twin and family studies suggests that the genetic liability to autism may be expressed through personality and language characteristics qualitatively similar, but more subtly expressed than those defining the full syndrome. This study examined behavioral features of this "broad autism phenotype" (BAP) in relation…

  7. Neural dynamics during repetitive visual stimulation

    Science.gov (United States)

    Tsoneva, Tsvetomira; Garcia-Molina, Gary; Desain, Peter

    2015-12-01

    Objective. Steady-state visual evoked potentials (SSVEPs), the brain responses to repetitive visual stimulation (RVS), are widely utilized in neuroscience. Their high signal-to-noise ratio and ability to entrain oscillatory brain activity are beneficial for their applications in brain-computer interfaces, investigation of neural processes underlying brain rhythmic activity (steady-state topography) and probing the causal role of brain rhythms in cognition and emotion. This paper aims at analyzing the space and time EEG dynamics in response to RVS at the frequency of stimulation and ongoing rhythms in the delta, theta, alpha, beta, and gamma bands. Approach.We used electroencephalography (EEG) to study the oscillatory brain dynamics during RVS at 10 frequencies in the gamma band (40-60 Hz). We collected an extensive EEG data set from 32 participants and analyzed the RVS evoked and induced responses in the time-frequency domain. Main results. Stable SSVEP over parieto-occipital sites was observed at each of the fundamental frequencies and their harmonics and sub-harmonics. Both the strength and the spatial propagation of the SSVEP response seem sensitive to stimulus frequency. The SSVEP was more localized around the parieto-occipital sites for higher frequencies (>54 Hz) and spread to fronto-central locations for lower frequencies. We observed a strong negative correlation between stimulation frequency and relative power change at that frequency, the first harmonic and the sub-harmonic components over occipital sites. Interestingly, over parietal sites for sub-harmonics a positive correlation of relative power change and stimulation frequency was found. A number of distinct patterns in delta (1-4 Hz), theta (4-8 Hz), alpha (8-12 Hz) and beta (15-30 Hz) bands were also observed. The transient response, from 0 to about 300 ms after stimulation onset, was accompanied by increase in delta and theta power over fronto-central and occipital sites, which returned to baseline

  8. Emergent structured transition from variation to repetition in a biologically-plausible model of learning in basal ganglia.

    Directory of Open Access Journals (Sweden)

    Ashvin eShah

    2014-02-01

    Full Text Available Often, when animals encounter an unexpected sensory event, they transition from executing a variety of movements to repeating the movement(s that may have caused the event. According to a recent theory of action discovery (Redgrave and Gurney 2006, repetition allows the animal to represent those movements, and the outcome, as an action for later recruitment. The transition from variation to repetition often follows a non-random, structured, pattern. While the structure of the pattern can be explained by sophisticated cognitive mechanisms, simpler mechanisms based on dopaminergic modulation of basal ganglia (BG activity are thought to underlie action discovery (Redgrave and Gurney 2006. In this paper we ask the question: can simple BG-mediated mechanisms account for a structured transition from variation to repetition, or are more sophisticated cognitive mechanisms always necessary?To address this question, we present a computational model of BG-mediated biasing of behavior. In our model, unlike most other models of BG function, the BG biases behaviour through modulation of cortical response to excitation; many possible movements are represented by the cortical area; and excitation to the cortical area is topographically-organized. We subject the model to simple reaching tasks, inspired by behavioral studies, in which a location to which to reach must be selected. Locations within a target area elicit a reinforcement signal. A structured transition from variation to repetition emerges from simple BG-mediated biasing of cortical response to excitation. We show how the structured pattern influences behavior in simple and complicated tasks. We also present analyses that describe the structured transition from variation to repetition due to BG-mediated biasing and from biasing that would be expected from a type of cognitive biasing, allowing us to compare behaviour resulting from these types of biasing and make connections with future behavioural

  9. Analysis of repetitive DNA in chromosomes by flow cytometry.

    Science.gov (United States)

    Brind'Amour, Julie; Lansdorp, Peter M

    2011-06-01

    We developed a flow cytometry method, chromosome flow fluorescence in situ hybridization (FISH), called CFF, to analyze repetitive DNA in chromosomes using FISH with directly labeled peptide nucleic acid (PNA) probes. We used CFF to measure the abundance of interstitial telomeric sequences in Chinese hamster chromosomes and major satellite sequences in mouse chromosomes. Using CFF we also identified parental homologs of human chromosome 18 with different amounts of repetitive DNA.

  10. Linear- and Repetitive-Feature Detection Within Remotely Sensed Imagery

    Science.gov (United States)

    2017-04-01

    1.1 Background The Army desires the ability to deliver cargo, equipment, and personnel to harsh locations almost anywhere on the planet . This...because the Hough transform is designed to look for straight linear features, which most real- life fea- tures are not. As mention previously, it is...repetitive features are differentiated based on their appearance in the images of interest; however, real- life repetitive features often corre- spond to

  11. Linear- and Repetitive Feature Detection Within Remotely Sensed Imagery

    Science.gov (United States)

    2017-04-01

    1.1 Background The Army desires the ability to deliver cargo, equipment, and personnel to harsh locations almost anywhere on the planet . This...because the Hough transform is designed to look for straight linear features, which most real- life fea- tures are not. As mention previously, it is...repetitive features are differentiated based on their appearance in the images of interest; however, real- life repetitive features often corre- spond to

  12. Brain Injury Following Repetitive Apnea in Newborn Piglets

    Science.gov (United States)

    Schears, Gregory; Creed, Jennifer; Antoni, Diego; Zaitseva, Tatiana; Greeley, William; Wilson, David F.; Pastuszko, Anna

    Repetitive apnea is associated with a significant increase in extracellular dopamine, generation of free radicals as determined by o-tyrosine formation and increase in Fluoro-Jade staining of degenerating neurons. This increase in extracellular dopamine and of hydroxyl radicals in striatum of newborn brain is likely to be at least partly responsible for the neuronal injury and neurological side effects of repetitive apnea.

  13. Illusory sensation of movement induced by repetitive transcranial magnetic stimulation

    DEFF Research Database (Denmark)

    Christensen, Mark Schram; Lundbye-Jensen, J.; Grey, M.J.;

    2010-01-01

    Human movement sense relies on both somatosensory feedback and on knowledge of the motor commands used to produce the movement. We have induced a movement illusion using repetitive transcranial magnetic stimulation over primary motor cortex and dorsal premotor cortex in the absence of limb moveme...... premotor cortex stimulation was less affected by sensory and motor deprivation than was primary motor cortex stimulation. We propose that repetitive transcranial magnetic stimulation over dorsal premotor cortex produces a corollary discharge that is perceived as movement....

  14. Properties of water surface discharge at different pulse repetition rates

    Energy Technology Data Exchange (ETDEWEB)

    Ruma,; Yoshihara, K. [Graduate School of Science and Technology, Kumamoto University, Kumamoto 860-8555 (Japan); Hosseini, S. H. R., E-mail: hosseini@kumamoto-u.ac.jp; Sakugawa, T.; Akiyama, H. [Graduate School of Science and Technology, Kumamoto University, Kumamoto 860-8555 (Japan); Institute of Pulsed Power Science, Kumamoto University, Kumamoto 860-8555 (Japan); Akiyama, M. [Department of Electrical and Electronic Engineering, Kagoshima University, Kagoshima 890-0065 (Japan); Lukeš, P. [Institute of Plasma Physics, AS CR, Prague, Prague 18200 (Czech Republic)

    2014-09-28

    The properties of water surface discharge plasma for variety of pulse repetition rates are investigated. A magnetic pulse compression (MPC) pulsed power modulator able to deliver pulse repetition rates up to 1000 Hz, with 0.5 J per pulse energy output at 25 kV, was used as the pulsed power source. Positive pulse with a point-to-plane electrode configuration was used for the experiments. The concentration and production yield of hydrogen peroxide (H₂O₂) were quantitatively measured and orange II organic dye was treated, to evaluate the chemical properties of the discharge reactor. Experimental results show that the physical and chemical properties of water surface discharge are not influenced by pulse repetition rate, very different from those observed for under water discharge. The production yield of H₂O₂ and degradation rate per pulse of the dye did not significantly vary at different pulse repetition rates under a constant discharge mode on water surface. In addition, the solution temperature, pH, and conductivity for both water surface and underwater discharge reactors were measured to compare their plasma properties for different pulse repetition rates. The results confirm that surface discharge can be employed at high pulse repetition rates as a reliable and advantageous method for industrial and environmental decontamination applications.

  15. Distinguishing Obsessive-Compulsive Behavior From Stereotypy: A Preliminary Investigation.

    Science.gov (United States)

    Chok, James T; Koesler, Bryan

    2014-05-01

    The current project was an initial attempt to develop assessment procedures for distinguishing between obsessive-compulsive (OC) and stereotypic behavior and evaluate the impact of different treatments for these behaviors. Two individuals with autism, one with repetitive behavior characteristic of OC behavior and one with repetitive behavior not characteristic of OC behavior, participated in the study. In Experiment 1, given that individuals with Obsessive-Compulsive Disorder (OCD) report experiencing unpleasant urges that are relieved when they perform compulsive actions, an attempt was made to identify these experiences by measuring heart rate and affect when access to repetitive behavior was restricted and allowed. In Experiment 2, a multiple schedules treatment was conducted with each participant, and in Experiment 3, the participant with autism and OC behavior completed exposure and response prevention (ERP) treatment. The overall results across studies suggest that one potential way to discriminate between OC behavior and stereotypy in nonvocal children with autism is to consider the topography of repetitive behavior along with changes in physiology and affect. In addition, it may be worth considering the use of ERP, a traditional treatment for OCD, to treat repetitive behavior maintained by automatic reinforcement if treatments that provide access to repetitive behavior are not effective.

  16. Impact of visual repetition rate on intrinsic properties of low frequency fluctuations in the visual network.

    Directory of Open Access Journals (Sweden)

    Yi-Chia Li

    Full Text Available BACKGROUND: Visual processing network is one of the functional networks which have been reliably identified to consistently exist in human resting brains. In our work, we focused on this network and investigated the intrinsic properties of low frequency (0.01-0.08 Hz fluctuations (LFFs during changes of visual stimuli. There were two main questions to be discussed in this study: intrinsic properties of LFFs regarding (1 interactions between visual stimuli and resting-state; (2 impact of repetition rate of visual stimuli. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed scanning sessions that contained rest and visual stimuli in various repetition rates with a novel method. The method included three numerical approaches involving ICA (Independent Component Analyses, fALFF (fractional Amplitude of Low Frequency Fluctuation, and Coherence, to respectively investigate the modulations of visual network pattern, low frequency fluctuation power, and interregional functional connectivity during changes of visual stimuli. We discovered when resting-state was replaced by visual stimuli, more areas were involved in visual processing, and both stronger low frequency fluctuations and higher interregional functional connectivity occurred in visual network. With changes of visual repetition rate, the number of areas which were involved in visual processing, low frequency fluctuation power, and interregional functional connectivity in this network were also modulated. CONCLUSIONS/SIGNIFICANCE: To combine the results of prior literatures and our discoveries, intrinsic properties of LFFs in visual network are altered not only by modulations of endogenous factors (eye-open or eye-closed condition; alcohol administration and disordered behaviors (early blind, but also exogenous sensory stimuli (visual stimuli with various repetition rates. It demonstrates that the intrinsic properties of LFFs are valuable to represent physiological states of human brains.

  17. Phenotyping animal models of diabetic neuropathy

    DEFF Research Database (Denmark)

    Biessels, G J; Bril, V; Calcutt, N A

    2014-01-01

    of statistically different values between diabetic and control animals in 2 of 3 assessments (nocifensive behavior, nerve conduction velocities, or nerve structure). The participants propose that this framework would allow different research groups to compare and share data, with an emphasis on data targeted......NIDDK, JDRF, and the Diabetic Neuropathy Study Group of EASD sponsored a meeting to explore the current status of animal models of diabetic peripheral neuropathy. The goal of the workshop was to develop a set of consensus criteria for the phenotyping of rodent models of diabetic neuropathy....... The discussion was divided into five areas: (1) status of commonly used rodent models of diabetes, (2) nerve structure, (3) electrophysiological assessments of nerve function, (4) behavioral assessments of nerve function, and (5) the role of biomarkers in disease phenotyping. Participants discussed the current...

  18. Animal biometrics: quantifying and detecting phenotypic appearance.

    Science.gov (United States)

    Kühl, Hjalmar S; Burghardt, Tilo

    2013-07-01

    Animal biometrics is an emerging field that develops quantified approaches for representing and detecting the phenotypic appearance of species, individuals, behaviors, and morphological traits. It operates at the intersection between pattern recognition, ecology, and information sciences, producing computerized systems for phenotypic measurement and interpretation. Animal biometrics can benefit a wide range of disciplines, including biogeography, population ecology, and behavioral research. Currently, real-world applications are gaining momentum, augmenting the quantity and quality of ecological data collection and processing. However, to advance animal biometrics will require integration of methodologies among the scientific disciplines involved. Such efforts will be worthwhile because the great potential of this approach rests with the formal abstraction of phenomics, to create tractable interfaces between different organizational levels of life.

  19. Sex Differences in Diagnosis and Clinical Phenotypes of Chinese Children with Autism Spectrum Disorder.

    Science.gov (United States)

    Wang, Shihuan; Deng, Hongzhu; You, Cong; Chen, Kaiyun; Li, Jianying; Tang, Chun; Ceng, Chaoqun; Zou, Yuanyuan; Zou, Xiaobing

    2017-04-01

    The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder (ASD) in China's mainland. Children diagnosed with ASD (n = 1064, 228 females) were retrospectively included in the analysis. All children were assessed using the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS). The results showed that girls scored significantly higher in ADI-R socio-emotional reciprocity than boys, and also scored lower in ADI-R and ADOS restricted and repetitive behaviors (RRBs). Meanwhile, the proportions of girls who satisfied the diagnostic cut-off scores in the ADI-R RRBs domain were lower than in boys (P < 0.05). Our results indicated that girls with ASD show greater socio-emotional reciprocity than boys. Girls also tended to show fewer RRBs than boys, and the type of RRBs in girls differ from those in boys. The ADI-R was found to be less sensitive in girls, particularly for assessment in the RRBs domain.

  20. Worm Phenotype Ontology: Integrating phenotype data within and beyond the C. elegans community

    Directory of Open Access Journals (Sweden)

    Yook Karen

    2011-01-01

    Full Text Available Abstract Background Caenorhabditis elegans gene-based phenotype information dates back to the 1970's, beginning with Sydney Brenner and the characterization of behavioral and morphological mutant alleles via classical genetics in order to understand nervous system function. Since then C. elegans has become an important genetic model system for the study of basic biological and biomedical principles, largely through the use of phenotype analysis. Because of the growth of C. elegans as a genetically tractable model organism and the development of large-scale analyses, there has been a significant increase of phenotype data that needs to be managed and made accessible to the research community. To do so, a standardized vocabulary is necessary to integrate phenotype data from diverse sources, permit integration with other data types and render the data in a computable form. Results We describe a hierarchically structured, controlled vocabulary of terms that can be used to standardize phenotype descriptions in C. elegans, namely the Worm Phenotype Ontology (WPO. The WPO is currently comprised of 1,880 phenotype terms, 74% of which have been used in the annotation of phenotypes associated with greater than 18,000 C. elegans genes. The scope of the WPO is not exclusively limited to C. elegans biology, rather it is devised to also incorporate phenotypes observed in related nematode species. We have enriched the value of the WPO by integrating it with other ontologies, thereby increasing the accessibility of worm phenotypes to non-nematode biologists. We are actively developing the WPO to continue to fulfill the evolving needs of the scientific community and hope to engage researchers in this crucial endeavor. Conclusions We provide a phenotype ontology (WPO that will help to facilitate data retrieval, and cross-species comparisons within the nematode community. In the larger scientific community, the WPO will permit data integration, and

  1. Mice repeatedly exposed to Group-A β-Haemolytic Streptococcus show perseverative behaviors, impaired sensorimotor gating, and immune activation in rostral diencephalon.

    Science.gov (United States)

    Macrì, Simone; Ceci, Chiara; Onori, Martina Proietti; Invernizzi, Roberto William; Bartolini, Erika; Altabella, Luisa; Canese, Rossella; Imperi, Monica; Orefici, Graziella; Creti, Roberta; Margarit, Immaculada; Magliozzi, Roberta; Laviola, Giovanni

    2015-08-25

    Repeated exposure to Group-A β-Haemolytic Streptococcus (GAS) may constitute a vulnerability factor in the onset and course of pediatric motor disturbances. GAS infections/colonization can stimulate the production of antibodies, which may cross the blood brain barrier, target selected brain areas (e.g. basal ganglia), and exacerbate motor alterations. Here, we exposed developing SJL male mice to four injections with a GAS homogenate and evaluated the following domains: motor coordination; general locomotion; repetitive behaviors; perseverative responses; and sensorimotor gating (pre-pulse inhibition, PPI). To demonstrate that behavioral changes were associated with immune-mediated brain alterations, we analyzed, in selected brain areas, the presence of infiltrates and microglial activation (immunohistochemistry), monoamines (HPLC), and brain metabolites (in vivo Magnetic Resonance Spectroscopy). GAS-exposed mice showed increased repetitive and perseverative behaviors, impaired PPI, and reduced concentrations of serotonin in prefrontal cortex, a brain area linked to the behavioral domains investigated, wherein they also showed remarkable elevations in lactate. Active inflammatory processes were substantiated by the observation of infiltrates and microglial activation in the white matter of the anterior diencephalon. These data support the hypothesis that repeated GAS exposure may elicit inflammatory responses in brain areas involved in motor control and perseverative behavior, and result in phenotypic abnormalities.

  2. The evolution of phenotypic correlations and "developmental memory".

    Science.gov (United States)

    Watson, Richard A; Wagner, Günter P; Pavlicev, Mihaela; Weinreich, Daniel M; Mills, Rob

    2014-04-01

    Development introduces structured correlations among traits that may constrain or bias the distribution of phenotypes produced. Moreover, when suitable heritable variation exists, natural selection may alter such constraints and correlations, affecting the phenotypic variation available to subsequent selection. However, exactly how the distribution of phenotypes produced by complex developmental systems can be shaped by past selective environments is poorly understood. Here we investigate the evolution of a network of recurrent nonlinear ontogenetic interactions, such as a gene regulation network, in various selective scenarios. We find that evolved networks of this type can exhibit several phenomena that are familiar in cognitive learning systems. These include formation of a distributed associative memory that can "store" and "recall" multiple phenotypes that have been selected in the past, recreate complete adult phenotypic patterns accurately from partial or corrupted embryonic phenotypes, and "generalize" (by exploiting evolved developmental modules) to produce new combinations of phenotypic features. We show that these surprising behaviors follow from an equivalence between the action of natural selection on phenotypic correlations and associative learning, well-understood in the context of neural networks. This helps to explain how development facilitates the evolution of high-fitness phenotypes and how this ability changes over evolutionary time.

  3. RPERT: Repetitive-Projects Evaluation and Review Technique

    Directory of Open Access Journals (Sweden)

    Remon Fayek Aziz

    2014-03-01

    Full Text Available Estimating expected completion probability of any repetitive construction project with a specified/certain duration including repetitive identical activities by using program evaluation and review technique is the most essential part in construction areas since the activities were had optimistic, most likely and pessimistic durations. This paper focuses on the calculation of expected completion probability of any repetitive construction project within a specified/certain duration (contract duration by using Line Of Balance technique (LOB in case of single or multiple number of crews integrated with Program Evaluation and Review Technique (PERT. Repetitive-Projects Evaluation and Review Technique (RPERT, which is a simplified software, will generate the expected project completion probability of a specified/certain duration (contract duration. RPERT software is designed by java programming code system to provide a number of new and unique capabilities, including: (1 Viewing the expected project completion probability according to a set of specified durations per each identical activity (optimistic time, most likely time, and pessimistic time in the analyzed project; (2 Providing seamless integration with available project time calculations. In order to provide the aforementioned capabilities of RPERT, the system is implemented and developed in four main modules: (1 A user interface module; (2 A database module; (3 A running module; and (4 A processing module. At the end, an illustrative example will be presented to demonstrate and verify the applications of proposed software (RPERT, by using probabilistic calculations for repetitive construction projects.

  4. Quantifying repetitive speech in autism spectrum disorders and language impairment.

    Science.gov (United States)

    van Santen, Jan P H; Sproat, Richard W; Hill, Alison Presmanes

    2013-10-01

    We report on an automatic technique for quantifying two types of repetitive speech: repetitions of what the child says him/herself (self-repeats) and of what is uttered by an interlocutor (echolalia). We apply this technique to a sample of 111 children between the ages of four and eight: 42 typically developing children (TD), 19 children with specific language impairment (SLI), 25 children with autism spectrum disorders (ASD) plus language impairment (ALI), and 25 children with ASD with normal, non-impaired language (ALN). The results indicate robust differences in echolalia between the TD and ASD groups as a whole (ALN + ALI), and between TD and ALN children. There were no significant differences between ALI and SLI children for echolalia or self-repetitions. The results confirm previous findings that children with ASD repeat the language of others more than other populations of children. On the other hand, self-repetition does not appear to be significantly more frequent in ASD, nor does it matter whether the child's echolalia occurred within one (immediate) or two turns (near-immediate) of the adult's original utterance. Furthermore, non-significant differences between ALN and SLI, between TD and SLI, and between ALI and TD are suggestive that echolalia may not be specific to ALN or to ASD in general. One important innovation of this work is an objective fully automatic technique for assessing the amount of repetition in a transcript of a child's utterances.

  5. Repetitive magnetic stimulation of human-derived neuron-like cells activates cAMP-CREB pathway.

    Science.gov (United States)

    Hellmann, Julian; Jüttner, Rene; Roth, Clarisse; Bajbouj, Malek; Kirste, Imke; Heuser, Isabella; Gertz, Karen; Endres, Matthias; Kronenberg, Golo

    2012-02-01

    Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive neurostimulatory technique widely used in research, diagnostics, and neuro-psychiatric therapy. Despite its growing popularity, basic molecular mechanisms underlying the clinical effects of rTMS have remained largely under-researched. Here, we present a human-derived neuronal cell culture system responsive to rTMS effects. SH-SY5Y neuroblastoma cells were differentiated by retinoic acid treatment for 10 days, resulting in a neuronal phenotype characterized by upregulation of neuronal marker proteins and generation of an action potential in response to depolarizing current step injection. Repetitive magnetic stimulation of these cells resulted in increased intracellular cAMP levels and increased phosphorylation of transcription factor CREB. Pretreatment with ketamine (1 μM) potentiated, while pretreatment with lithium (2 mM) attenuated this cellular response to repetitive magnetic stimulation. In conclusion, we introduce here a novel in vitro system responding to rTMS at the level of second messenger signaling. The use of human-derived cells with neuron-like properties will prove useful for further studies on the cellular effects of rTMS.

  6. Relational Machine Learning for Electronic Health Record-Driven Phenotyping

    Science.gov (United States)

    Peissig, Peggy L.; Costa, Vitor Santos; Caldwell, Michael D.; Rottscheit, Carla; Berg, Richard L.; Mendonca, Eneida A.; Page, David

    2014-01-01

    Objective Electronic health records (EHR) offer medical and pharmacogenomics research unprecedented opportunities to identify and classify patients at risk. EHRs are collections of highly inter-dependent records that include biological, anatomical, physiological, and behavioral observations. They comprise a patient’s clinical phenome, where each patient has thousands of date-stamped records distributed across many relational tables. Development of EHR computer-based phenotyping algorithms require time and medical insight from clinical experts, who most often can only review a small patient subset representative of the total EHR records, to identify phenotype features. In this research we evaluate whether relational machine learning (ML) using Inductive Logic Programming (ILP) can contribute to addressing these issues as a viable approach for EHR-based phenotyping. Methods Two relational learning ILP approaches and three well-known WEKA (Waikato Environment for Knowledge Analysis) implementations of non-relational approaches (PART, J48, and JRIP) were used to develop models for nine phenotypes. International Classification of Diseases, Ninth Revision (ICD-9) coded EHR data were used to select training cohorts for the development of each phenotypic model. Accuracy, precision, recall, F-Measure, and Area Under the Receiver Operating Characteristic (AUROC) curve statistics were measured for each phenotypic model based on independent manually verified test cohorts. A two-sided binomial distribution test (sign test) compared the five ML approaches across phenotypes for statistical significance. Results We developed an approach to automatically label training examples using ICD-9 diagnosis codes for the ML approaches being evaluated. Nine phenotypic models for each MLapproach were evaluated, resulting in better overall model performance in AUROC using ILP when compared to PART (p=0.039), J48 (p=0.003) and JRIP (p=0.003). Discussion ILP has the potential to improve

  7. Relational machine learning for electronic health record-driven phenotyping.

    Science.gov (United States)

    Peissig, Peggy L; Santos Costa, Vitor; Caldwell, Michael D; Rottscheit, Carla; Berg, Richard L; Mendonca, Eneida A; Page, David

    2014-12-01

    Electronic health records (EHR) offer medical and pharmacogenomics research unprecedented opportunities to identify and classify patients at risk. EHRs are collections of highly inter-dependent records that include biological, anatomical, physiological, and behavioral observations. They comprise a patient's clinical phenome, where each patient has thousands of date-stamped records distributed across many relational tables. Development of EHR computer-based phenotyping algorithms require time and medical insight from clinical experts, who most often can only review a small patient subset representative of the total EHR records, to identify phenotype features. In this research we evaluate whether relational machine learning (ML) using inductive logic programming (ILP) can contribute to addressing these issues as a viable approach for EHR-based phenotyping. Two relational learning ILP approaches and three well-known WEKA (Waikato Environment for Knowledge Analysis) implementations of non-relational approaches (PART, J48, and JRIP) were used to develop models for nine phenotypes. International Classification of Diseases, Ninth Revision (ICD-9) coded EHR data were used to select training cohorts for the development of each phenotypic model. Accuracy, precision, recall, F-Measure, and Area Under the Receiver Operating Characteristic (AUROC) curve statistics were measured for each phenotypic model based on independent manually verified test cohorts. A two-sided binomial distribution test (sign test) compared the five ML approaches across phenotypes for statistical significance. We developed an approach to automatically label training examples using ICD-9 diagnosis codes for the ML approaches being evaluated. Nine phenotypic models for each ML approach were evaluated, resulting in better overall model performance in AUROC using ILP when compared to PART (p=0.039), J48 (p=0.003) and JRIP (p=0.003). ILP has the potential to improve phenotyping by independently delivering

  8. A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome

    OpenAIRE

    Lee, Michelle; Martin, Gary E; Berry-Kravis, Elizabeth; Losh, Molly

    2016-01-01

    Background Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizin...

  9. Associations between repetitive questioning, resistance to change, temper outbursts and anxiety in Prader-Willi and Fragile-X syndromes.

    Science.gov (United States)

    Woodcock, K; Oliver, C; Humphreys, G

    2009-03-01

    The behavioural phenotypes of Prader-Willi (PWS) and Fragile-X (FraX) syndromes both comprise repetitive behaviours with differences between the profiles. In this study we investigated the context and antecedents to the repetitive behaviours and the association with other behavioural phenotypic characteristics in order to generate testable hypotheses regarding the cause of the behaviours. The parents or carers of 46 children with PWS (mean age 14.1 years; 20 girls), and 33 boys with FraX (mean age 13.11 years) were interviewed about their children's repetitive behaviour in a semi-structured format. Children showed negative emotional behaviour (PWS: 87.0%; FraX: 79.4%) and repetitive questions (PWS: 78.3%; FraX: 73.5%) following changes in routine or expectations. Significantly more temper outbursts were reported to follow changes in children with PWS (89.1%) compared with boys with FraX (41.2%) (chi(2) = 20.93; P < 0.001). Anxiety that was frequently associated with repetitive and self-injurious behaviours in boys with FraX, followed changes in significantly more boys with FraX (76.5%) compared with children with PWS (6.5%) (chi(2) = 43.19, P < 0.001). On the basis of these reports and existing literature, we hypothesise that decreases in predictability are aversive to children with PWS and FraX. We also hypothesise that these children have a propensity to show a syndrome-related pattern of behaviour (temper outbursts in PWS and displays of anxiety in FraX) when an event in the environment has this aversive property. We hypothesise that questions may be reinforcing to children in their own right by increasing the predictability of the environment. We outline how a specific cognitive deficit in the endophenotypes associated with both PWS and FraX could be investigated as a potential explanation for the hypothesised aversive properties of decreased predictability.

  10. The problem of crime repetition risk after early release on parole

    Directory of Open Access Journals (Sweden)

    Debolskiy M.G.

    2014-09-01

    Full Text Available We examined the psychological problems encountered in the implementation of such an important legal institution as release on parole. We show the progressiveness of the measure, its stimulating effect on the law-abiding behavior of the convicts in prison. However, analysis of the practice of parole reveals a number of problems: high level of crime repetition; presence of a large proportion of convicts (60% who did not use their right to parole; a large number of disagreements between the administration of correctional institutions and the courts in assessing the degree of correction and deciding on parole; absence of unambiguous criteria of correction. We paid considerable attention to the analysis of the conceptual approaches that underpin the practice of early release of convicts in Russia and abroad. The advantages of the domestic concept are assessment of the degree of correction, and its humanistic orientation. We also describe the history of development and maintenance of foreign concepts in evaluating risk factors for parole prisoners. The author believes that the domestic and international approaches are interrelated, but the latter is more pragmatic and focused on the prediction of human behavior at large, taking into account his capacity to meet basic needs (both vital and social. The article shows the experience of applied research aimed at understanding the system of recidivism risk assessment and opportunities of repetition risk reduction in parole prisoners.

  11. Synthetic Biology of Phenotypic Adaptation in Vertebrates: The Next Frontier

    Science.gov (United States)

    Yokoyama, Shozo

    2013-01-01

    For over the last 2 decades, positively selected amino acid sites have been inferred almost exclusively by showing that the number of nonsynonymous substitutions per nonsynonymous site (dn) is greater than that of synonymous substitutions per synonymous site (ds). However, virtually none of these statistical results have been experimentally tested and remain as hypotheses. To perform such experimental tests, we must connect genotype and phenotype and relate the phenotypic changes to the environmental and behavioral changes of the organism. The genotype–phenotype relationship can be established only by synthesizing and manipulating “proper” ancestral phenotypes, whereas the actual functions of adaptive mutations can be learned by studying their chemical roles in phenotypic changes. PMID:23603936

  12. Repetition Priming Influences Distinct Brain Systems: Evidence From Task-Evoked Data and Resting-State Correlations

    Science.gov (United States)

    Wig, Gagan S.; Buckner, Randy L.; Schacter, Daniel L.

    2009-01-01

    Behavioral dissociations suggest that a single experience can separately influence multiple processing components. Here we used a repetition priming functional magnetic resonance imaging paradigm that directly contrasted the effects of stimulus and decision changes to identify the underlying brain systems. Direct repetition of stimulus features caused marked reductions in posterior regions of the inferior temporal lobe that were insensitive to whether the decision was held constant or changed between study and test. By contrast, prefrontal cortex showed repetition effects that were sensitive to the exact stimulus-to-decision mapping. Analysis of resting-state functional connectivity revealed that the dissociated repetition effects are embedded within distinct brain systems. Regions that were sensitive to changes in the stimulus correlated with perceptual cortices, whereas the decision changes attenuated activity in regions correlated with middle-temporal regions and a frontoparietal control system. These results thus explain the long-known dissociation between perceptual and conceptual components of priming by revealing how a single experience can separately influence distinct, concurrently active brain systems. PMID:19225167

  13. Clinical specificity of acute versus chronic self-injury: measurement and evaluation of repetitive non-suicidal self-injury.

    Science.gov (United States)

    Manca, Maura; Presaghi, Fabio; Cerutti, Rita

    2014-01-30

    Overall, previous studies on the prevalence of non-suicidal self-injury (NSSI) behaviors in the general population have stressed the importance of differentiating between occasional and repetitive NSSI, examining different severity levels (e.g., frequency and variety of methods), as well as investigating the diverse psychopathological correlates of NSSI. However, existing NSSI measures have not been explicitly developed by to comply with the NSSI diagnostic criteria proposed in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). The purpose of this study is to develop a measure of repetitive NSSI by considering its essential features, as described in the proposed DSM-5 as well as in other clinically relevant aspects emerging from case reports. Two independent samples of participants (N1=383 young adults and 251 adolescents; N2=953 adolescents) belonging to the general population were involved in the present study. The questionnaire showed satisfactory fit statistics and reliably discriminated between occasional and repetitive self-injurers (Area Under Curve, AUC=0.755). The pattern of correlations with psychopathological measures confirmed a more clinically-compromised profile for repetitive rather than occasional self-injurers.

  14. ROBUST REPETITIVE CONTROL FOR IMPROVING RATE SMOOTHNESS OF TEST TURNTABLE

    Institute of Scientific and Technical Information of China (English)

    LIUYu; ZENGMing; SUBao-ku

    2005-01-01

    A robust repetitive control scheme is used to improve the rate smoothness of a brushless DC motor (BLDCM) driven test turntable. The method synthesizes variable structure control (VSC) laws and repetitive control (RC) laws in a complementary manner. The VSC strategy can stabilize the system and suppress uncertainties, such as the aperiodic disturbance and noises, while RC strategy can eliminate the periodic rate fluctuation in a steady state. The convergence of the repetitive learning process is also guaranteed by VSC. A general nonlinear system model is discussed. The model can be considered as an extension of BLDCMs. The stability and asymptotic position tracking performance are validated by using Lyapunov functions. Simulation results show the effectiveness of the proposed approach for improving the rate smoothness.

  15. Repeated text in unrelated passages: Repetition versus meaning selection effects.

    Science.gov (United States)

    Klin, Celia M; Drumm, April M; Ralano, Angela S

    2009-07-01

    Despite previous findings, Klin, Ralano, and Weingartner (2007) found transfer benefits across unrelated passages. After processing an ambiguous phrase in Story A that was biased toward its sarcastic meaning, readers were more likely to interpret the identical phrase in Story B as sarcastic, even though it contained no disambiguating information. In the present experiments, we found both repetition effects (a benefit for the lexical items) and meaning selection effects (a benefit for the selected meaning of the phrase) with short delays between Stories A and B; with longer delays, only repetition effects were found. Whereas decreasing the elaboration of the phrase eliminated both effects, moving the disambiguating context from before to after the phrase eliminated meaning selection effects only. We conclude that meaning selection effects, which are based on conceptual overlap, are more sensitive to context changes and less robust than repetition effects, which are based on both perceptual and conceptual overlap.

  16. Effects of repetition and temperature on Contingent Electrical Stimulation

    DEFF Research Database (Denmark)

    Castrillon, Eduardo E.; Zhou, Xinwen; Svensson, Peter

    Effects of repetition and temperature on Contingent Electrical Stimulation. E.E. Castrillon W1, 2, Xinwen Zhou 3, P. Svensson1, 2, 4 1 Department of Dentistry and Oral Health, Section of Orofacial Pain and Jaw Function, Aarhus University, Denmark2 Scandinavian Center for Orofacial Neuroscience...... (SCON)3 Department of Dentistry, Beijing Shijitan Hospital, Capital Medical University, Beijing, China. 4 Department of Dental Medicine, Karolinska Institutet, Huddinge, Sweden  Background: Contingent electrical stimulation (CES) of the facial skin has been shown to reduce electromyographic (EMG......) activity associated with bruxism. Repetition of the electrical stimulus and skin surface temperature (ST) may affect the perception of CES and possibly also the inhibitory EMG effects.Objectives: To determine the effects of stimulus repetition and skin ST on the perception of CES.  Methods: Healthy...

  17. Restricted Repetitive Sampling in Designing of Control Charts

    Directory of Open Access Journals (Sweden)

    Muhammad Anwar Mughal

    2017-06-01

    Full Text Available In this article a criteria have been defined to classify the existing repetitive sampling into soft, moderate and strict conditions. Behind this division a ratio has been suggested i.e. c2 (constant used in repetitive limits to c1(constant used in control limit in slabs. A restricted criterion has been devised on the existing repetitive sampling. By embedding the proposed schematic in the control chart it becomes highly efficient in detecting the shifts quite earlier as well as it detects even smaller shifts at smaller ARLs. To facilitate the user for best choice the restricted criterion has further categorized to softly restricted, moderately restricted and strictly restricted. The restricted conditions are dependent on value of restriction parameter ’m’ varies 2 to 6. The application of proposed scheme on selected cases is given in tables which are self explanatory.

  18. Oral Language Skills Moderate Nonword Repetition Skills in Children with Dyslexia: A Meta-Analysis of the Role of Nonword Repetition Skills in Dyslexia

    Science.gov (United States)

    Melby-Lervag, Monica; Lervag, Arne

    2012-01-01

    We present a meta-analysis reviewing studies that have focused on the relationship between dyslexia and nonword repetition. The results show that children with dyslexia have poorer nonword repetition skills when compared to both chronological-age and reading-level controls. However, the severity of the nonword repetition problem varies…

  19. Oral Language Skills Moderate Nonword Repetition Skills in Children with Dyslexia: A Meta-Analysis of the Role of Nonword Repetition Skills in Dyslexia

    Science.gov (United States)

    Melby-Lervag, Monica; Lervag, Arne

    2012-01-01

    We present a meta-analysis reviewing studies that have focused on the relationship between dyslexia and nonword repetition. The results show that children with dyslexia have poorer nonword repetition skills when compared to both chronological-age and reading-level controls. However, the severity of the nonword repetition problem varies…

  20. Effect of repetitive mckenzie lumbar spine exercises on cardiovascular system

    Directory of Open Access Journals (Sweden)

    Agrawal Sonal S

    2014-07-01

    Full Text Available Background & Purpose: McKenzie exercises for the lumbar spine, which are done repeatedly, such as flexion in standing (FIS, extension in standing flexion in lying (FIL & extension in lying (EIL have been used in the management of low back pain for over three decades. The cardiovascular effects of exercises that involve postural stabilization, arm exercises and of exercises performed in lying are well known, but there are seldom studies performed to assess the cardiovascular effects of these commonly used McKenzie exercises. Therefore the study focused on evaluating the effects of 4 commonly used McKenzie exercises on the cardiovascular system. Methods: 80 subjects in the age group of 20-59 years were randomly assigned into 4 groups according to their age, such that such that each group comprised of an equal number of subjects & equal number of males & females. Each subject performed all the 4 exercises (FIS, EIS, FIL & EIL for 10, 15 & 20 repetitions respectively. Heart rate, blood pressure & rate pressure product were recorded before & after each set of repetitions & after each type of exercise. Results: Repetitive McKenzie lumbar spine exercises had cardiovascular effects in apparently healthy subjects (both male & female. Exercises performed in lying were hemodynamically more demanding than that performed in standing, also exercises involving flexion of the lumbar spine elicited greater cardiovascular demand as compared to extension exercises i.e. FIL>EIL>FIS>EIS irrespective of the number of repetitions, 10, 15 or 20. The cardiovascular demand for a given subject increased as the number of repetitions increased, for all the 4 exercises. Conclusion: McKenzie exercises when done repetitively have cardiovascular effects in healthy subjects.

  1. Radiofrequency treatment alters cancer cell phenotype

    Science.gov (United States)

    Ware, Matthew J.; Tinger, Sophia; Colbert, Kevin L.; Corr, Stuart J.; Rees, Paul; Koshkina, Nadezhda; Curley, Steven; Summers, H. D.; Godin, Biana

    2015-07-01

    The importance of evaluating physical cues in cancer research is gradually being realized. Assessment of cancer cell physical appearance, or phenotype, may provide information on changes in cellular behavior, including migratory or communicative changes. These characteristics are intrinsically different between malignant and non-malignant cells and change in response to therapy or in the progression of the disease. Here, we report that pancreatic cancer cell phenotype was altered in response to a physical method for cancer therapy, a non-invasive radiofrequency (RF) treatment, which is currently being developed for human trials. We provide a battery of tests to explore these phenotype characteristics. Our data show that cell topography, morphology, motility, adhesion and division change as a result of the treatment. These may have consequences for tissue architecture, for diffusion of anti-cancer therapeutics and cancer cell susceptibility within the tumor. Clear phenotypical differences were observed between cancerous and normal cells in both their untreated states and in their response to RF therapy. We also report, for the first time, a transfer of microsized particles through tunneling nanotubes, which were produced by cancer cells in response to RF therapy. Additionally, we provide evidence that various sub-populations of cancer cells heterogeneously respond to RF treatment.

  2. Frobenius morphisms and stable module categories of repetitive algebras

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Let k be the algebraic closure of a finite field F_q and A be a finite dimensional k-algebra with a Frobenius morphism F.In the present paper we establish a relation between the stable module category of the repetitive algebra  of A and that of the repetitive algebra of the fixed-point algebra A~F.As an application,it is shown that the derived category of A~F is equivalent to the subcategory of F-stable objects in the derived category of A when A has a finite global dimension.

  3. Risk factors for hand-wrist disorders in repetitive work

    DEFF Research Database (Denmark)

    Thomsen, J. F.; Mikkelsen, S.; Andersen, JH

    2007-01-01

    (wrist pain and palpation tenderness) were determined in 3123 employees in 19 industrial settings. With the use of questionnaires and video recordings of homogenous work tasks number of wrist movements, hand force requirements and wrist position were analysed as risk factors for hand-wrist disorders......OBJECTIVES: To identify the risk of hand-wrist disorders related to repetitive movements, use of hand force and wrist position in repetitive monotonous work. METHODS: Using questionnaires and physical examinations, the prevalence and incidence of hand-wrist pain and possible extensor tendonitis...... were less consistent. Working with the hand in a non-neutral position could not be identified as a risk factor...

  4. Demonstration of a high repetition rate capillary discharge waveguide

    Energy Technology Data Exchange (ETDEWEB)

    Gonsalves, A. J., E-mail: ajgonsalves@lbl.gov; Pieronek, C.; Daniels, J.; Bulanov, S. S.; Waldron, W. L.; Mittelberger, D. E.; Leemans, W. P. [Lawrence Berkeley National Laboratory, Berkeley, California 94720 (United States); Liu, F.; Antipov, S.; Butler, J. E. [Euclid TechLabs, Gaithersburg, Maryland 20879 (United States); Bobrova, N. A.; Sasorov, P. V. [Keldysh Institute of Applied Mathematics, Moscow (Russian Federation)

    2016-01-21

    A hydrogen-filled capillary discharge waveguide operating at kHz repetition rates is presented for parameters relevant to laser plasma acceleration (LPA). The discharge current pulse was optimized for erosion mitigation with laser guiding experiments and MHD simulation. Heat flow simulations and measurements showed modest temperature rise at the capillary wall due to the average heat load at kHz repetition rates with water-cooled capillaries, which is promising for applications of LPAs such as high average power radiation sources.

  5. Medium Repetition Rate TEA Laser For Industrial Applications

    Science.gov (United States)

    Walter, Bruno

    1987-09-01

    The design and performance of an inexpensive compact repetitively pulsed TEA CO2 laser is described. The device uses a modified corona preionization technique and a fast transverse gas flow to achieve high repetition rates. An output energy of 500 mJ per pulse and an out-put power of 6.2W at 40Hz have been obtained. Due to the small energy needed for preionization, the efficiency of the device is high, whereas the gas dissociation is low when compared with commercial laser systems. This results in the relatively small fresh laser gas exchange of 20 ltr h-1 for long term operation.

  6. A mouse model of human repetitive mild traumatic brain injury

    OpenAIRE

    Kane, Michael J; Pérez, Mariana Angoa; Briggs, Denise I.; Viano, David C.; Kreipke, Christian W.; Kuhn, Donald M.

    2011-01-01

    A novel method for the study of repetitive mild traumatic brain injury (rmTBI) that models the most common form of head injury in humans is presented. Existing animal models of TBI impart focal, severe damage unlike that seen in repeated and mild concussive injuries, and few are configured for repetitive application. Our model is a modification of the Marmarou weight drop method and allows repeated head impacts to lightly anesthetized mice. A key facet of this method is the delivery of an imp...

  7. Convention, Repetition and Abjection: The Way of the Gothic

    OpenAIRE

    Łowczanin Agnieszka

    2014-01-01

    This paper employs Deleuze and Kristeva in an examination of certain Gothic conventions. It argues that repetition of these conventions- which endows Gothicism with formulaic coherence and consistence but might also lead to predictability and stylistic deadlock-is leavened by a novelty that Deleuze would categorize as literary “gift.” This particular kind of “gift” reveals itself in the fiction of successive Gothic writers on the level of plot and is applied to the repetition of the genre’s m...

  8. Urine concentrations of repetitive doses of inhaled salbutamol

    DEFF Research Database (Denmark)

    Elers, J; Pedersen, Lars; Henninge, J;

    2011-01-01

    We examined blood and urine concentrations of repetitive doses of inhaled salbutamol in relation to the existing cut-off value used in routine doping control. We compared the concentrations in asthmatics with regular use of beta2-agonists prior to study and healthy controls with no previous use...... of beta2-agonists. We enrolled 10 asthmatics and 10 controls in an open-label study in which subjects inhaled repetitive doses of 400 microgram salbutamol every second hour (total 1600 microgram), which is the permitted daily dose by the World Anti-Doping Agency (WADA). Blood samples were collected...

  9. A Brief Account on the Functions of Rhetorical Repetition

    Institute of Scientific and Technical Information of China (English)

    Li Yuping

    2000-01-01

    It is believed that using rhetoric devices precisely is of great importance for the English Learners, if they want to write good articles. Repetition is one of the rhetoric devices that is frequently used in English writing. This paper gives a brief account on the four functions of repetition by presenting some typical examples, focusing the reader's attention on the significance of this device in the English writing. The following are the four functions: an effective means of emphasis; making anidea clear and easier; generating emotional force; heightening a certain atmosphere.

  10. Inflammatory Macrophage Phenotype in BTBR T+tf/J Mice

    Directory of Open Access Journals (Sweden)

    Paul eAshwood

    2013-09-01

    Full Text Available Although autism is a behaviorally defined disorder, many studies report an association with increased pro-inflammatory cytokine production. Recent characterization of the BTBR T+tf/J (BTBR inbred mouse strain has revealed several behavioral characteristics including social deficits, repetitive behavior, and atypical vocalizations which may be relevant to autism. We therefore hypothesized that asocial BTBR mice, which exhibit autism-like behaviors, may have an inflammatory immune profile similar to that observed in children with autism. The objectives of this study were to characterize the myeloid immune profile of BTBR mice and to explore their associations with autism-relevant behaviors. C57BL/6J (C57 mice and BTBR mice were tested for social interest and repetitive self-grooming behavior. Cytokine production was measured in bone-marrow derived macrophages incubated for 24 hours in either growth media alone, LPS, IL-4/ LPS, or IFNγ/ LPS to ascertain any M1/M2 skewing. After LPS stimulation, BTBR macrophages produced higher levels of IL-6, MCP-1, and MIP-1α and lower IL-10 (p<0.01 that C57 mice, suggesting an exaggerated inflammatory profile. After exposure to IL-4/LPS BTBR macrophages produced less IL-10 than C57 macrophages and more IL-12p40 (p<0.01 suggesting poor M2 polarization. Levels of IL-12(p70 (p<0.05 were higher in BTBR macrophages after IFNγ/LPS stimulation, suggesting enhanced M1 polarization. We further observed a positive correlation between grooming frequency, and production of IL-12(p40, IL-12p70, IL-6, and TNFα (p<0.05 after treatment with IFNγ/LPS across both strains. Collectively, these data suggest that the asocial BTBR mouse strain exhibits a more inflammatory, or M1, macrophage profile in comparison to social C57 strain. We have further demonstrated a relationship between this relative increase in inflammation and repetitive grooming behavior, which may have relevance to repetitive and stereotyped behavior of autism.

  11. A mathematical model of cancer cells with phenotypic plasticity

    Directory of Open Access Journals (Sweden)

    Da Zhou

    2015-12-01

    Full Text Available Purpose: The phenotypic plasticity of cancer cells is recently becoming a cutting-edge research area in cancer, which challenges the cellular hierarchy proposed by the conventional cancer stem cell theory. In this study, we establish a mathematical model for describing the phenotypic plasticity of cancer cells, based on which we try to find some salient features that can characterize the dynamic behavior of the phenotypic plasticity especially in comparison to the hierarchical model of cancer cells. Methods: We model cancer as population dynamics composed of different phenotypes of cancer cells. In this model, not only can cancer cells divide (symmetrically and asymmetrically and die, but they can also convert into other cellular phenotypes. According to the Law of Mass Action, the cellular processes can be captured by a system of ordinary differential equations (ODEs. On one hand, we can analyze the long-term stability of the model by applying qualitative method of ODEs. On the other hand, we are also concerned about the short-term behavior of the model by studying its transient dynamics. Meanwhile, we validate our model to the cell-state dynamics in published experimental data.Results: Our results show that the phenotypic plasticity plays important roles in both stabilizing the distribution of different phenotypic mixture and maintaining the cancer stem cells proportion. In particular, the phenotypic plasticity model shows decided advantages over the hierarchical model in predicting the phenotypic equilibrium and cancer stem cells’ overshoot reported in previous biological experiments in cancer cell lines.Conclusion: Since the validity of the phenotypic plasticity paradigm and the conventional cancer stem cell theory is still debated in experimental biology, it is worthy of theoretically searching for good indicators to distinguish the two models through quantitative methods. According to our study, the phenotypic equilibrium and overshoot

  12. Hormones and phenotypic plasticity: Implications for the evolution of integrated adaptive phenotypes

    Institute of Scientific and Technical Information of China (English)

    Sean C.LEMA; Jun KITANO

    2013-01-01

    It is generally accepted that taxa exhibit genetic variation in phenotypic plasticity,but many questions remain unanswered about how divergent plastic responses evolve under dissimilar ecological conditions.Hormones are signaling molecules that act as proximate mediators of phenotype expression by regulating a variety of cellular,physiological,and behavioral responses.Hormones not only change cellular and physiological states but also influence gene expression directly or indirectly,thereby linking environmental conditions to phenotypic development.Studying how hormonal pathways respond to environmental variation and how those responses differ between individuals,populations,and species can expand our understanding of the evolution of phenotypic plasticity.Here,we explore the ways that the study of hormone signaling is providing new insights into the underlying proximate bases for individual,population or species variation in plasticity.Using several studies as exemplars,we examine how a 'norm of reaction' approach can be used in investigations of hormone-mediated plasticity to inform the following:1) how environmental cues affect the component hormones,receptors and enzymes that comprise any endocrine signaling pathway,2) how genetic and epigenetic variation in endocrine-associated genes can generate variation in plasticity among these diverse components,and 3) how phenotypes mediated by the same hormone can be coupled and decoupled via independent plastic responses of signaling components across target tissues.Future studies that apply approaches such as reaction norms and network modeling to questions concerning how hormones link environmental stimuli to ecologically-relevant phenotypic responses should help unravel how phenotypic plasticity evolves.

  13. Hormones and phenotypic plasticity: Implications for the evolution of integrated adaptive phenotypes

    Directory of Open Access Journals (Sweden)

    Sean C. LEMA, Jun KITANO

    2013-08-01

    Full Text Available It is generally accepted that taxa exhibit genetic variation in phenotypic plasticity, but many questions remain unanswered about how divergent plastic responses evolve under dissimilar ecological conditions. Hormones are signaling molecules that act as proximate mediators of phenotype expression by regulating a variety of cellular, physiological, and behavioral responses. Hormones not only change cellular and physiological states but also influence gene expression directly or indirectly, thereby linking environmental conditions to phenotypic development. Studying how hormonal pathways respond to environmental variation and how those responses differ between individuals, populations, and species can expand our understanding of the evolution of phenotypic plasticity. Here, we explore the ways that the study of hormone signaling is providing new insights into the underlying proximate bases for individual, population or species variation in plasticity. Using several studies as exemplars, we examine how a ‘norm of reaction’ approach can be used in investigations of hormone-mediated plasticity to inform the following: 1 how environmental cues affect the component hormones, receptors and enzymes that comprise any endocrine signaling pathway, 2 how genetic and epigenetic variation in endocrine-associated genes can generate variation in plasticity among these diverse components, and 3 how phenotypes mediated by the same hormone can be coupled and decoupled via independent plastic responses of signaling components across target tissues. Future studies that apply approaches such as reaction norms and network modeling to questions concerning how hormones link environmental stimuli to ecologically-relevant phenotypic responses should help unravel how phenotypic plasticity evolves [Current Zoology 59 (4: 506–525, 2013].

  14. Shal/K(v4 channels are required for maintaining excitability during repetitive firing and normal locomotion in Drosophila.

    Directory of Open Access Journals (Sweden)

    Yong Ping

    Full Text Available BACKGROUND: Rhythmic behaviors, such as walking and breathing, involve the coordinated activity of central pattern generators in the CNS, sensory feedback from the PNS, to motoneuron output to muscles. Unraveling the intrinsic electrical properties of these cellular components is essential to understanding this coordinated activity. Here, we examine the significance of the transient A-type K(+ current (I(A, encoded by the highly conserved Shal/K(v4 gene, in neuronal firing patterns and repetitive behaviors. While I(A is present in nearly all neurons across species, elimination of I(A has been complicated in mammals because of multiple genes underlying I(A, and/or electrical remodeling that occurs in response to affecting one gene. METHODOLOGY/PRINCIPAL FINDINGS: In Drosophila, the single Shal/K(v4 gene encodes the predominant I(A current in many neuronal cell bodies. Using a transgenically expressed dominant-negative subunit (DNK(v4, we show that I(A is completely eliminated from cell bodies, with no effect on other currents. Most notably, DNK(v4 neurons display multiple defects during prolonged stimuli. DNK(v4 neurons display shortened latency to firing, a lower threshold for repetitive firing, and a progressive decrement in AP amplitude to an adapted state. We record from identified motoneurons and show that Shal/K(v4 channels are similarly required for maintaining excitability during repetitive firing. We then examine larval crawling, and adult climbing and grooming, all behaviors that rely on repetitive firing. We show that all are defective in the absence of Shal/K(v4 function. Further, knock-out of Shal/K(v4 function specifically in motoneurons significantly affects the locomotion behaviors tested. CONCLUSIONS/SIGNIFICANCE: Based on our results, Shal/K(v4 channels regulate the initiation of firing, enable neurons to continuously fire throughout a prolonged stimulus, and also influence firing frequency. This study shows that Shal/K(v4

  15. An ontology for microbial phenotypes.

    Science.gov (United States)

    Chibucos, Marcus C; Zweifel, Adrienne E; Herrera, Jonathan C; Meza, William; Eslamfam, Shabnam; Uetz, Peter; Siegele, Deborah A; Hu, James C; Giglio, Michelle G

    2014-11-30

    Phenotypic data are routinely used to elucidate gene function in organisms amenable to genetic manipulation. However, previous to this work, there was no generalizable system in place for the structured storage and retrieval of phenotypic information for bacteria. The Ontology of Microbial Phenotypes (OMP) has been created to standardize the capture of such phenotypic information from microbes. OMP has been built on the foundations of the Basic Formal Ontology and the Phenotype and Trait Ontology. Terms have logical definitions that can facilitate computational searching of phenotypes and their associated genes. OMP can be accessed via a wiki page as well as downloaded from SourceForge. Initial annotations with OMP are being made for Escherichia coli using a wiki-based annotation capture system. New OMP terms are being concurrently developed as annotation proceeds. We anticipate that diverse groups studying microbial genetics and associated phenotypes will employ OMP for standardizing microbial phenotype annotation, much as the Gene Ontology has standardized gene product annotation. The resulting OMP resource and associated annotations will facilitate prediction of phenotypes for unknown genes and result in new experimental characterization of phenotypes and functions.

  16. Variations in Repetition Duration and Repetition Numbers Influence Muscular Activation and Blood Lactate Response in Protocols Equalized by Time Under Tension.

    Science.gov (United States)

    Lacerda, Lucas T; Martins-Costa, Hugo C; Diniz, Rodrigo C R; Lima, Fernando V; Andrade, André G P; Tourino, Frank D; Bemben, Michael G; Chagas, Mauro H

    2016-01-01

    The aim of this study was to investigate the impact of protocols equalized by the time under tension (TUT) but composed of different repetition durations and repetitions numbers on muscle activation and blood lactate concentration. Twenty-two males with previous experience in resistance training performed 2 training protocols (A and B) with the Smith machine bench press exercise, both with 3 sets, 3 minutes' rest, and 60% of 1 repetition maximum (1RM). Protocol A consisted of 6 repetitions with a 6-second repetition duration for each repetition, whereas in Protocol B the subjects performed 12 repetitions with a 3-second repetition duration for each repetition. Muscular activation was measured in the anterior deltoid, pectoralis major, and triceps brachii muscles while performing the 2 protocols, and the normalized root mean square of the electromyographic signal (EMGRMS) was calculated for each set. Blood lactate concentrations were measured during and until 12 minutes after the completion of each protocol. The results showed that the EMGRMS of all muscles increased during the sets and was higher in Protocol B when compared with Protocol A. Likewise, blood lactate concentrations also increased throughout the sets and were higher in Protocol B both during and after the completion of each training session. The data obtained in this study show that training protocols conducted with the same TUT, but with different configurations, produce distinct neuromuscular and metabolic responses so that performing higher repetition numbers with shorter repetition durations might be a more appropriate strategy to increase muscle activation and blood lactate concentration.

  17. Brief Report: Avoidance Extinction as Treatment for Compulsive and Ritual Behavior in Autism

    Science.gov (United States)

    Wolff, Jason J.; Hupp, Susan C.; Symons, Frank J.

    2013-01-01

    Treatment options for maladaptive repetitive behaviors associated with autism are limited. This is particularly so for ritual and compulsive forms of repetitive behavior, which commonly interfere with adaptive activities and may cause distress to individuals with autism and their families. The present study assessed an avoidance extinction…

  18. Does temporal discounting explain unhealthy behavior? A systematic review and reinforcement learning perspective

    Science.gov (United States)

    Story, Giles W.; Vlaev, Ivo; Seymour, Ben; Darzi, Ara; Dolan, Raymond J.

    2014-01-01

    The tendency to make unhealthy choices is hypothesized to be related to an individual's temporal discount rate, the theoretical rate at which they devalue delayed rewards. Furthermore, a particular form of temporal discounting, hyperbolic discounting, has been proposed to explain why unhealthy behavior can occur despite healthy intentions. We examine these two hypotheses in turn. We first systematically review studies which investigate whether discount rates can predict unhealthy behavior. These studies reveal that high discount rates for money (and in some instances food or drug rewards) are associated with several unhealthy behaviors and markers of health status, establishing discounting as a promising predictive measure. We secondly examine whether intention-incongruent unhealthy actions are consistent with hyperbolic discounting. We conclude that intention-incongruent actions are often triggered by environmental cues or changes in motivational state, whose effects are not parameterized by hyperbolic discounting. We propose a framework for understanding these state-based effects in terms of the interplay of two distinct reinforcement learning mechanisms: a “model-based” (or goal-directed) system and a “model-free” (or habitual) system. Under this framework, while discounting of delayed health may contribute to the initiation of unhealthy behavior, with repetition, many unhealthy behaviors become habitual; if health goals then change, habitual behavior can still arise in response to environmental cues. We propose that the burgeoning development of computational models of these processes will permit further identification of health decision-making phenotypes. PMID:24659960

  19. Handedness, repetitive transcranial magnetic stimulation and bulimic disorders.

    Science.gov (United States)

    Van den Eynde, F; Broadbent, H; Guillaume, S; Claudino, A; Campbell, I C; Schmidt, U

    2012-05-01

    Repetitive Transcranial Magnetic Stimulation (rTMS) research in psychiatry mostly excludes left-handed participants. We recruited left-handed people with a bulimic disorder and found that stimulation of the left prefrontal cortex may result in different effects in left- and right-handed people. This highlights the importance of handedness and cortex lateralisation for rTMS.

  20. Decomposition of Repetition Priming Processes in Word Translation

    Science.gov (United States)

    Francis, Wendy S.; Duran, Gabriela; Augustini, Beatriz K.; Luevano, Genoveva; Arzate, Jose C.; Saenz, Silvia P.

    2011-01-01

    Translation in fluent bilinguals requires comprehension of a stimulus word and subsequent production, or retrieval and articulation, of the response word. Four repetition-priming experiments with Spanish-English bilinguals (N = 274) decomposed these processes using selective facilitation to evaluate their unique priming contributions and factorial…

  1. Auditory Repetition Priming Is Impaired in Pure Alexic Patients

    Science.gov (United States)

    Swick, Diane; Miller, Kimberly M.; Larsen, Jary

    2004-01-01

    Alexia without agraphia, or ''pure'' alexia, is an acquired impairment in reading that leaves writing skills intact. Repetition priming for visually presented words is diminished in pure alexia. However, it is not possible to verify whether this priming deficit is modality-specific or modality independent because reading abilities are compromised.…

  2. A Study on Repetition Techniques in Persian Morphology

    Directory of Open Access Journals (Sweden)

    a Vafaie

    2011-06-01

    Full Text Available The speakers of any language, according to their constant need, coin some novel words in order to convey meaning, express ideas, thoughts, and their desires. In this process, they take advantage of their overt or covert linguistic competence. For instance, the derivative feature of Arabic language has contributed a lot to speakers of that language to create so many words with multiple meanings, all formed on the same stem. Likewise, English speakers make use of the derivative features, compounding, blending, and multiple processes of their language to create words. Similarly, in Persian language, the speakers make new words based on specific features of that language. There are five common processes applied in Persian language to form new words, among which blending, compounding, derivation, repetition or reduplication, clipping and acronyms are frequently used and the other techniques or processes have been neglected. Word repetition is one of the word formation processes and many words are made through this process. This study is an attempt to delve into the morphological processes of word repetition in Persian contemporary language according to the texts of three books, “Imaginary Perspectives in Persian Poetry”, “Let’s Listen to the Speech” and “with Holleh Convoy”. In addition, it strives to find a proper solution to the question of the Persian word formation processes in creating new words through repetition.

  3. Do Stimulus-Action Associations Contribute to Repetition Priming?

    Science.gov (United States)

    Dennis, Ian; Perfect, Timothy J.

    2013-01-01

    Despite evidence that response learning makes a major contribution to repetition priming, the involvement of response representations at the level of motor actions remains uncertain. Levels of response representation were investigated in 4 experiments that used different tasks at priming and test. Priming for stimuli that required congruent…

  4. Processing Speaker Variability in Repetition and Semantic/Associative Priming

    Science.gov (United States)

    Lee, Chao-Yang; Zhang, Yu

    2015-01-01

    The effect of speaker variability on accessing the form and meaning of spoken words was evaluated in two short-term priming experiments. In the repetition priming experiment, participants listened to repeated or unrelated prime-target pairs, in which the prime and target were produced by the same speaker or different speakers. The results showed…

  5. Orientation-Invariant Object Recognition: Evidence from Repetition Blindness

    Science.gov (United States)

    Harris, Irina M.; Dux, Paul E.

    2005-01-01

    The question of whether object recognition is orientation-invariant or orientation-dependent was investigated using a repetition blindness (RB) paradigm. In RB, the second occurrence of a repeated stimulus is less likely to be reported, compared to the occurrence of a different stimulus, if it occurs within a short time of the first presentation.…

  6. Piriform spider silk sequences reveal unique repetitive elements.

    Science.gov (United States)

    Perry, David J; Bittencourt, Daniela; Siltberg-Liberles, Jessica; Rech, Elibio L; Lewis, Randolph V

    2010-11-08

    Orb-weaving spider silk fibers are assembled from very large, highly repetitive proteins. The repeated segments contain, in turn, short, simple, and repetitive amino acid motifs that account for the physical and mechanical properties of the assembled fiber. Of the six orb-weaver silk fibroins, the piriform silk that makes the attachment discs, which lashes the joints of the web and attaches dragline silk to surfaces, has not been previously characterized. Piriform silk protein cDNAs were isolated from phage libraries of three species: A. trifasciata , N. clavipes , and N. cruentata . The deduced amino acid sequences from these genes revealed two new repetitive motifs: an alternating proline motif, where every other amino acid is proline, and a glutamine-rich motif of 6-8 amino acids. Similar to other spider silk proteins, the repeated segments are large (>200 amino acids) and highly homogenized within a species. There is also substantial sequence similarity across the genes from the three species, with particular conservation of the repetitive motifs. Northern blot analysis revealed that the mRNA is larger than 11 kb and is expressed exclusively in the piriform glands of the spider. Phylogenetic analysis of the C-terminal regions of the new proteins with published spidroins robustly shows that the piriform sequences form an ortholog group.

  7. Focus on form through task repetition in TBLT

    NARCIS (Netherlands)

    van de Guchte, M.; Braaksma, M.; Rijlaarsdam, G.; Bimmel, P.

    2015-01-01

    Because there has been little research on focus on form during the post-task phase in task-based language teaching, this experimental study investigates the effects of task repetition after having directed learners’ attention to form during the main task. The study comprises two interventions, where

  8. Spierbelasting en RSI [Muscle load and repetitive strain injury (RSI)

    NARCIS (Netherlands)

    Hoozemans, M.J.M.; Visser, B.; Huysmans, M.A.; Speklé, E.M.; Dieën, J.H. van

    2005-01-01

    This paper presents an overview of theories concerning the development of RSI (repetitive strain injury), related to muscle disorders. Movement is a noisy process. The level of noise is affected by factors such as fatigue and psychosocial stress. In order for precision movements to be made in such

  9. Use of Repetitive Transcranial Magnetic Stimulation for Treatment in Psychiatry

    NARCIS (Netherlands)

    Aleman, Andre

    The potential of noninvasive neurostimulation by repetitive transcranial magnetic stimulation (rTMS) for improving psychiatric disorders has been studied increasingly over the past two decades. This is especially the case for major depression and for auditory verbal hallucinations in schizophrenia.

  10. Practicing novel, praxis-like movements: physiological effects of repetition

    Directory of Open Access Journals (Sweden)

    Joshua Benjamin Ewen

    2016-02-01

    Full Text Available Our primary goal was to develop and validate a task that could provide evidence about how humans learn praxis gestures, such as those involving the use of tools. To that end, we created a video-based task in which subjects view a model performing novel, meaningless one-handed actions with kinematics similar to praxis gestures. Subjects then imitated the movements with their right hand. Trials were repeated 6 times to examine practice effects. EEG was recorded during the task. As a control, subjects watched videos of a model performing a well-established (over learned tool-use gesture. These gestures were also imitated 6 times. Demonstrating convergent validity, EEG measures of task-related cortical activation were similar in topography and frequency between the novel gesture task and the overlearned, praxis gesture task. As in studies assessing motor skill learning with simpler tasks, cortical activation during novel gesture learning decreased as the same gestures were repeated. In the control condition, repetition of overlearned tool-use gestures were also associated with reductions in activation, though to a lesser degree. Given that even overlearned, praxis gestures show constriction of EEG activity with repetition, it is possible that that attentional effects drive some of the repetition effects seen in EEG measures of activation during novel gesture repetition.

  11. A repetitive 0.14 THz relativistic surface wave oscillator

    Energy Technology Data Exchange (ETDEWEB)

    Wang Guangqiang; Tong Changjiang; Li Xiaoze; Wang Xuefeng; Li Shuang; Lu Xicheng [Northwest Institute of Nuclear Technology, P.O. Box 69-1, Xi' an 710024 (China); Wang Jianguo [Northwest Institute of Nuclear Technology, P.O. Box 69-1, Xi' an 710024 (China); School of Electronic and Information Engineering, Xi' an Jiaotong University, Xi' an 710049 (China)

    2013-04-15

    Preliminary experimental results of a repetitive 0.14 THz overmoded relativistic surface wave oscillator (RSWO) are presented in this paper. The repetitive RSWO is developed by using a rectangularly corrugated slow-wave structure with overmoded ratio of 3 and a foilless diode emitting annular electron beam with thickness of 0.5 mm. The high quality electron beams at the repetition rate of 10 are obtained over a wide range of diode voltage (180 kV < U < 240 kV) and current (700 A < I < 1.2 kA). The generation experiments of RSWO are conducted at an axial pulsed magnetic field whose maximum strength and duration can reach about 2.7 T and 1 s, respectively. The experimental results show that the RSWO successfully produces reasonable uniform terahertz pulses at repetition rate of 10, and the pulse duration, frequency, and power of a single pulse are about 1.5 ns, 0.154 THz, and 2.6 MW, respectively, whereas the dominated radiation mode of the RSWO is TM{sub 02}.

  12. Memory, emotion, and pupil diameter: Repetition of natural scenes.

    Science.gov (United States)

    Bradley, Margaret M; Lang, Peter J

    2015-09-01

    Recent studies have suggested that pupil diameter, like the "old-new" ERP, may be a measure of memory. Because the amplitude of the old-new ERP is enhanced for items encoded in the context of repetitions that are distributed (spaced), compared to massed (contiguous), we investigated whether pupil diameter is similarly sensitive to repetition. Emotional and neutral pictures of natural scenes were viewed once or repeated with massed (contiguous) or distributed (spaced) repetition during incidental free viewing and then tested on an explicit recognition test. Although an old-new difference in pupil diameter was found during successful recognition, pupil diameter was not enhanced for distributed, compared to massed, repetitions during either recognition or initial free viewing. Moreover, whereas a significant old-new difference was found for erotic scenes that had been seen only once during encoding, this difference was absent when erotic scenes were repeated. Taken together, the data suggest that pupil diameter is not a straightforward index of prior occurrence for natural scenes. © 2015 Society for Psychophysiological Research.

  13. Processing Speaker Variability in Repetition and Semantic/Associative Priming

    Science.gov (United States)

    Lee, Chao-Yang; Zhang, Yu

    2015-01-01

    The effect of speaker variability on accessing the form and meaning of spoken words was evaluated in two short-term priming experiments. In the repetition priming experiment, participants listened to repeated or unrelated prime-target pairs, in which the prime and target were produced by the same speaker or different speakers. The results showed…

  14. Do Stimulus-Action Associations Contribute to Repetition Priming?

    Science.gov (United States)

    Dennis, Ian; Perfect, Timothy J.

    2013-01-01

    Despite evidence that response learning makes a major contribution to repetition priming, the involvement of response representations at the level of motor actions remains uncertain. Levels of response representation were investigated in 4 experiments that used different tasks at priming and test. Priming for stimuli that required congruent…

  15. Repetition Priming and Cortical Arousal in Healthy Aging and Alzheimer’s Disease

    Science.gov (United States)

    Kane, Amy E.; Festa, Elena K.; Salmon, David P.; Heindel, William C.

    2015-01-01

    Repetition priming refers to a form of implicit memory in which prior exposure to a stimulus facilitates the subsequent processing of the same or a related stimulus. One frequently used repetition priming task is word-stem completion priming. In this task, participants complete a series of beginning word stems with the first word that comes to mind after having viewed, in an unrelated context, words that can complete some of the stems. Patients with Alzheimer’s disease (AD) exhibit a significant deficit in word-stem completion priming, but the neural mechanisms underlying this deficit have yet to be identified. The present study examined the possibility that the word-stem completion priming deficit in AD is due to disruption of ascending neuromodulatory systems that mediate cortical arousal by comparing word-stem completion priming and behavioral measures of spatial orienting and phasic alerting. Results showed that in healthy elderly controls higher levels of phasic alerting were associated with a sharpening of the temporal dynamics of priming across two delay intervals: those with higher levels of alerting showed more immediate priming but less delayed priming than those with lesser levels of alerting. In patients with AD, priming was impaired despite intact levels of phasic alerting and spatial orienting, and group status rather than individual levels of alerting or orienting predicted the magnitude of their stem-completion priming. Furthermore, the change in priming across delays they displayed was not related to level of alerting or orienting. These findings support the role of the noradrenergic projection system in modulating the level of steady-state cortical activation (or “cortical tonus”) underlying both phasic alerting and the temporal dynamics of repetition priming. However, impaired priming in patients with AD does not appear to be due to disruption of this neuromodulatory system. PMID:25701794

  16. Repetition priming and cortical arousal in healthy aging and Alzheimer's disease.

    Science.gov (United States)

    Kane, Amy E; Festa, Elena K; Salmon, David P; Heindel, William C

    2015-04-01

    Repetition priming refers to a form of implicit memory in which prior exposure to a stimulus facilitates the subsequent processing of the same or a related stimulus. One frequently used repetition priming task is word-stem completion priming. In this task, participants complete a series of beginning word stems with the first word that comes to mind after having viewed, in an unrelated context, words that can complete some of the stems. Patients with Alzheimer's disease (AD) exhibit a significant deficit in word-stem completion priming, but the neural mechanisms underlying this deficit have yet to be identified. The present study examined the possibility that the word-stem completion priming deficit in AD is due to disruption of ascending neuromodulatory systems that mediate cortical arousal by comparing word-stem completion priming and behavioral measures of spatial orienting and phasic alerting. Results showed that in healthy elderly controls higher levels of phasic alerting were associated with a sharpening of the temporal dynamics of priming across two delay intervals: those with higher levels of alerting showed more immediate priming but less delayed priming than those with lesser levels of alerting. In patients with AD, priming was impaired despite intact levels of phasic alerting and spatial orienting, and group status rather than individual levels of alerting or orienting predicted the magnitude of their stem-completion priming. Furthermore, the change in priming across delays they displayed was not related to level of alerting or orienting. These findings support the role of the noradrenergic projection system in modulating the level of steady-state cortical activation (or "cortical tonus") underlying both phasic alerting and the temporal dynamics of repetition priming. However, impaired priming in patients with AD does not appear to be due to disruption of this neuromodulatory system. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Finite-Repetition threshold for infinite ternary words

    Directory of Open Access Journals (Sweden)

    Golnaz Badkobeh

    2011-08-01

    Full Text Available The exponent of a word is the ratio of its length over its smallest period. The repetitive threshold r(a of an a-letter alphabet is the smallest rational number for which there exists an infinite word whose finite factors have exponent at most r(a. This notion was introduced in 1972 by Dejean who gave the exact values of r(a for every alphabet size a as it has been eventually proved in 2009. The finite-repetition threshold for an a-letter alphabet refines the above notion. It is the smallest rational number FRt(a for which there exists an infinite word whose finite factors have exponent at most FRt(a and that contains a finite number of factors with exponent r(a. It is known from Shallit (2008 that FRt(2=7/3. With each finite-repetition threshold is associated the smallest number of r(a-exponent factors that can be found in the corresponding infinite word. It has been proved by Badkobeh and Crochemore (2010 that this number is 12 for infinite binary words whose maximal exponent is 7/3. We show that FRt(3=r(3=7/4 and that the bound is achieved with an infinite word containing only two 7/4-exponent words, the smallest number. Based on deep experiments we conjecture that FRt(4=r(4=7/5. The question remains open for alphabets with more than four letters. Keywords: combinatorics on words, repetition, repeat, word powers, word exponent, repetition threshold, pattern avoidability, word morphisms.

  18. Investigating repetition and change in musical rhythm by functional MRI.

    Science.gov (United States)

    Danielsen, A; Otnæss, M K; Jensen, J; Williams, S C R; Ostberg, B C

    2014-09-05

    Groove-based rhythm is a basic and much appreciated feature of Western popular music. It is commonly associated with dance, movement and pleasure and is characterized by the repetition of a basic rhythmic pattern. At various points in the musical course, drum breaks occur, representing a change compared to the repeated pattern of the groove. In the present experiment, we investigated the brain response to such drum breaks in a repetitive groove. Participants were scanned with functional magnetic resonance imaging (fMRI) while listening to a previously unheard naturalistic groove with drum breaks at uneven intervals. The rhythmic pattern and the timing of its different parts as performed were the only aspects that changed from the repetitive sections to the breaks. Differences in blood oxygen level-dependent activation were analyzed. In contrast to the repetitive parts, the drum breaks activated the left cerebellum, the right inferior frontal gyrus (RIFG), and the superior temporal gyri (STG) bilaterally. A tapping test using the same stimulus showed an increase in the standard deviation of inter-tap-intervals in the breaks versus the repetitive parts, indicating extra challenges for auditory-motor integration in the drum breaks. Both the RIFG and STG have been associated with structural irregularity and increase in musical-syntactical complexity in several earlier studies, whereas the left cerebellum is known to play a part in timing. Together these areas may be recruited in the breaks due to a prediction error process whereby the internal model is being updated. This concurs with previous research suggesting a network for predictive feed-forward control that comprises the cerebellum and the cortical areas that were activated in the breaks.

  19. Active power filter for harmonic compensation using a digital dual-mode-structure repetitive control approach

    DEFF Research Database (Denmark)

    Zou, Zhixiang; Wang, Zheng; Cheng, Ming;

    2012-01-01

    This paper presents an digital dual-mode-structure repetitive control approach for the single-phase shunt active power filter (APF), which aims to enhance the tracking ability and eliminate arbitrary order harmonic. The proposed repetitive control scheme blends the characteristics of both odd......-harmonic repetitive control and even-harmonic repetitive control. Moreover, the convergence rate is faster than conventional repetitive controller. Additionally, the parameters have been designed and optimized for the dual-mode structure repetitive control to improve the performance of APF system. Experimental...... results on a laboratory setup are given to verify the proposed control scheme....

  20. Spice: discovery of phenotype-determining component interplays

    Directory of Open Access Journals (Sweden)

    Chen Zhengzhang

    2012-05-01

    Full Text Available Abstract Background A latent behavior of a biological cell is complex. Deriving the underlying simplicity, or the fundamental rules governing this behavior has been the Holy Grail of systems biology. Data-driven prediction of the system components and their component interplays that are responsible for the target system’s phenotype is a key and challenging step in this endeavor. Results The proposed approach, which we call System Phenotype-related Interplaying Components Enumerator (Spice, iteratively enumerates statistically significant system components that are hypothesized (1 to play an important role in defining the specificity of the target system’s phenotype(s; (2 to exhibit a functionally coherent behavior, namely, act in a coordinated manner to perform the phenotype-specific function; and (3 to improve the predictive skill of the system’s phenotype(s when used collectively in the ensemble of predictive models. Spice can be applied to both instance-based data and network-based data. When validated, Spice effectively identified system components related to three target phenotypes: biohydrogen production, motility, and cancer. Manual results curation agreed with the known phenotype-related system components reported in literature. Additionally, using the identified system components as discriminatory features improved the prediction accuracy by 10% on the phenotype-classification task when compared to a number of state-of-the-art methods applied to eight benchmark microarray data sets. Conclusion We formulate a problem—enumeration of phenotype-determining system component interplays—and propose an effective methodology (Spice to address this problem. Spice improved identification of cancer-related groups of genes from various microarray data sets and detected groups of genes associated with microbial biohydrogen production and motility, many of which were reported in literature. Spice also improved the predictive skill of the