WorldWideScience

Sample records for spectrum disorder insights

  1. Genetic Aspects of Autism Spectrum Disorders: Insights from Animal Models

    Directory of Open Access Journals (Sweden)

    Swati eBanerjee

    2014-02-01

    Full Text Available Autism spectrum disorders (ASD are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology and has a rather complex etiology. It is interesting to note that perturbations in synaptic growth, development and stability underlie a variety of neuropsychiatric disorders, including ASD, schizophrenia, epilepsy and intellectual disability. Biological characterization of an increasing repertoire of synaptic mutants in various model organisms indicates synaptic dysfunction as causal in the pathophysiology of ASD. Our understanding of the genes and genetic pathways that contribute towards the formation, stabilization and maintenance of functional synapses coupled with an in-depth phenotypic analysis of the cellular and behavioral characteristics is therefore essential to unraveling the pathogenesis of these disorders. In this review, we discuss the genetic aspects of ASD emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species. We also review how fundamental research using animal models is providing key insights into the various facets of human ASD.

  2. Impaired insight into illness and cognitive insight in schizophrenia spectrum disorders: Resting state functional connectivity

    Science.gov (United States)

    Gerretsen, Philip; Menon, Mahesh; Mamo, David C.; Fervaha, Gagan; Remington, Gary; Pollock, Bruce G.; Graff-Guerrero, Ariel

    2015-01-01

    Background Impaired insight into illness (clinical insight) in schizophrenia has negative effects on treatment adherence and clinical outcomes. Schizophrenia is described as a disorder of disrupted brain connectivity. In line with this concept, resting state networks (RSNs) appear differentially affected in persons with schizophrenia. Therefore, impaired clinical, or the related construct of cognitive insight (which posits that impaired clinical insight is a function of metacognitive deficits), may reflect alterations in RSN functional connectivity (fc). Based on our previous research, which showed that impaired insight into illness was associated with increased left hemisphere volume relative to right, we hypothesized that impaired clinical insight would be associated with increased connectivity in the DMN with specific left hemisphere brain regions. Methods Resting state MRI scans were acquired for participants with schizophrenia or schizoaffective disorder (n = 20). Seed-to-voxel and ROI-to-ROI fc analyses were performed using the CONN-fMRI fc toolbox v13 for established RSNs. Clinical and cognitive insight were measured with the Schedule for the Assessment of Insight—Expanded Version and Beck Cognitive Insight Scale, respectively, and included as the regressors in fc analyses. Results As hypothesized, impaired clinical insight was associated with increased connectivity in the default mode network (DMN) with the left angular gyrus, and also in the self-referential network (SRN) with the left insula. Cognitive insight was associated with increased connectivity in the dorsal attention network (DAN) with the right inferior frontal cortex (IFC) and left anterior cingulate cortex (ACC). Conclusion Increased connectivity in DMN and SRN with the left angular gyrus and insula, respectively, may represent neural correlates of impaired clinical insight in schizophrenia spectrum disorders, and is consistent with the literature attributing impaired insight to left

  3. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Atsushi Takata

    2018-01-01

    Full Text Available Recent studies have established important roles of de novo mutations (DNMs in autism spectrum disorders (ASDs. Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the “de novo paradigm” of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244 and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits. Analysis of individual genes identified 61 genes enriched for damaging DNMs, including ten genes for which our dataset now contributes to statistical significance. Screening of compounds altering the expression of genes hit by damaging DNMs reveals a global downregulating effect of valproic acid, a known risk factor for ASDs, whereas cardiac glycosides upregulate these genes. Collectively, our integrative approach provides deeper biological and potential medical insights into ASDs.

  4. Unraveling the insight paradox: One-year longitudinal study on the relationships between insight, self-stigma, and life satisfaction among people with schizophrenia spectrum disorders.

    Science.gov (United States)

    Chio, Floria H N; Mak, Winnie W S; Chan, Randolph C H; Tong, Alan C Y

    2018-01-30

    The promotion of insight among people with schizophrenia spectrum disorders has posed a dilemma to service providers as higher insight has been linked to positive clinical outcomes but negative psychological outcomes. The negative meaning that people attached to the illness (self-stigma content) and the recurrence of such stigmatizing thoughts (self-stigma process) may explain why increased insight is associated with negative outcomes. The present study examined how the presence of high self-stigma content and self-stigma process may contribute to the negative association between insight and life satisfaction. A total of 181 people with schizophrenia spectrum disorders were assessed at baseline. 130 and 110 participants were retained and completed questionnaire at 6-month and 1-year follow-up, respectively. Results showed that baseline insight was associated with lower life satisfaction at 6-month when self-stigma process or self-stigma content was high. Furthermore, baseline insight was predictive of better life satisfaction at 1-year follow-up when self-stigma process was low. Findings suggested that the detrimental effects of insight can be a result from both the presence of cognitive content and habitual process of self-stigma. Future insight promotion interventions should also address self-stigma content and process among people with schizophrenia spectrum disorders so as to maximize the beneficial effects of insight. Copyright © 2018 Elsevier B.V. All rights reserved.

  5. Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder.

    Science.gov (United States)

    Andrews, Shan V; Ellis, Shannon E; Bakulski, Kelly M; Sheppard, Brooke; Croen, Lisa A; Hertz-Picciotto, Irva; Newschaffer, Craig J; Feinberg, Andrew P; Arking, Dan E; Ladd-Acosta, Christine; Fallin, M Daniele

    2017-10-24

    Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral blood to identify SNPs associated with DNA methylation (meQTL lists). Additionally, we use publicly available fetal brain and lung meQTL lists to assess enrichment of ASD GWAS results for tissue-specific meQTLs. ASD-associated SNPs are enriched for fetal brain (OR = 3.55; P < 0.001) and peripheral blood meQTLs (OR = 1.58; P < 0.001). The CpG targets of ASD meQTLs across cord, blood, and brain tissues are enriched for immune-related pathways, consistent with other expression and DNAm results in ASD, and reveal pathways not implicated by genetic findings. This joint analysis of genotype and DNAm demonstrates the potential of both brain and blood-based DNAm for insights into ASD and psychiatric phenotypes more broadly.

  6. Personality and self-insight in individuals with autism spectrum disorder.

    Science.gov (United States)

    Schriber, Roberta A; Robins, Richard W; Solomon, Marjorie

    2014-01-01

    Autism spectrum disorder (ASD) involves widespread difficulties in social interaction, communication, and behavioral flexibility. Consequently, individuals with ASD are believed to exhibit a number of unique personality tendencies, including a lack of insight into those tendencies. However, surprisingly little research has examined these issues. Study 1 compared self-reports of Big Five personality traits in adults with ASD (n = 37) to those of typically developing (TD) adults (n = 42). Study 2 examined whether any observed personality differences replicated in children/adolescents with ASD (n = 50) and TD controls (n = 50) according to self- and parent reports of personality. Study 2 also assessed level of self-insight in individuals with ASD relative to TD individuals by examining the degree to which self-reports converged with parent reports in terms of self-other agreement and self-enhancement (vs. self-diminishment) biases. Individuals with ASD were more Neurotic and less Extraverted, Agreeable, Conscientious, and Open to Experience. These personality differences replicated for (a) children, adolescents, and adults; (b) self- and parent reports; and (c) males and females. However, personality traits were far from perfect predictors of ASD vs. TD group membership, did not predict within-group variability in ASD symptom severity, and had differential links to maladjustment in the ASD and TD groups, suggesting that ASD represents more than just an extreme standing on trait dimensions. Finally, individuals with ASD had a tendency to self-enhance and TD individuals, to self-diminish, but both groups showed comparable self-other agreement. Thus, individuals with ASD exhibit distinct personalities relative to TD individuals but may have a similar level of insight into them.

  7. Personality and Self-Insight in Individuals with Autism Spectrum Disorder

    Science.gov (United States)

    Schriber, Roberta A.; Robins, Richard W.; Solomon, Marjorie

    2014-01-01

    Autism spectrum disorder (ASD) involves widespread difficulties in social interaction, communication, and behavioral flexibility. Consequently, individuals with ASD are believed to exhibit a number of unique personality tendencies, including a lack of insight into them. However, surprisingly little research has examined these issues. Study 1 compared self-reports of Big Five personality traits in adults with ASD (N=37) to those of typically developing (TD) adults (N=42). Study 2 examined whether any observed personality differences replicated in children/adolescents with ASD (N=50) and TD controls (N=50) according to self- and parent reports. Study 2 also assessed level of self-insight in individuals with ASD relative to TD individuals by examining the degree to which self-reports converged with parent reports in terms of self-other agreement and self-enhancement (vs. self-diminishment) biases. Individuals with ASD were more Neurotic and less Extraverted, Agreeable, Conscientious, and Open to Experience. These personality differences replicated for (a) children, adolescents, and adults, (b) self- and parent reports, and (c) males and females. However, personality traits were far from perfect predictors of ASD vs. TD group membership, did not predict within-group variability in ASD symptom severity, and had differential links to maladjustment in the ASD and TD groups, suggesting that ASD represents more than just an extreme standing on trait dimensions. Finally, individuals with ASD had a tendency to self-enhance, and TD individuals, to self-diminish, but both groups showed comparable self-other agreement. Thus, individuals with ASD exhibit distinct personalities relative to TD individuals but may have a similar level of insight into them. PMID:24377361

  8. Self-stigma and its relationship with insight, demoralization, and clinical outcome among people with schizophrenia spectrum disorders.

    Science.gov (United States)

    Cavelti, Marialuisa; Kvrgic, Sara; Beck, Eva-Marina; Rüsch, Nicolas; Vauth, Roland

    2012-07-01

    Paradoxically, insight is associated with positive outcomes, such as better treatment adherence and recovery, and negative outcomes, such as depression, hopelessness, low self-esteem, and quality of life. Self-stigma as a moderating variable can be decisive whether more insight leads to better or worse outcome. On the other hand, self-stigma can act as a mediator between insight and outcomes. We therefore examined self-stigma both as a moderator and a mediator. Insight, self-stigma, demoralization, symptoms, and functioning were assessed among 145 outpatients with schizophrenia spectrum disorders using questionnaires and structured interviews. Structural equation modeling was used to analyze the cross-sectional data. Results confirmed self-stigma as a moderator: The association of insight and demoralization was stronger as self-stigma increased. Self-stigma also partially mediated the positive relationship between insight and demoralization. Moreover, demoralization fully mediated the adverse associations of self-stigma with psychotic symptoms and global functioning. Given the decisive role of self-stigma regarding the detrimental consequences of insight, interventions should address self-stigma, particularly if psychoeducational or other interventions have increased insight. Therapeutic implications for changes of dysfunctional beliefs related to illness and self and change of self-concept in the context of recovery at the level of narrative identity are discussed. Copyright © 2012 Elsevier Inc. All rights reserved.

  9. Toward understanding the insight paradox: internalized stigma moderates the association between insight and social functioning, hope, and self-esteem among people with schizophrenia spectrum disorders.

    Science.gov (United States)

    Lysaker, Paul H; Roe, David; Yanos, Philip T

    2007-01-01

    Research has paradoxically linked awareness of illness to both better function outcomes and lesser hope and self-esteem. One possible explanation for these findings is that acceptance of having schizophrenia may impact outcomes differently depending on the meanings the person attaches to this acceptance, particularly whether he or she accepts stigmatizing beliefs about mental illness. To explore this possibility we performed a cluster analysis of 75 persons with schizophrenia spectrum disorders based on single measures of insight using the Positive and Negative Syndrome Scale, internalized stigma using the Internalized Stigma of Mental Illness Scale, and compared groups on concurrent assessments of hope and self-esteem. Three groups were produced by the cluster analyses: low in sight/mild stigma (n = 23), high insight/minimal stigma (n = 25), and high insight/moderate stigma (n = 27). As predicted, analysis of variance-comparing groups revealed that the high insight/moderate stigma group had significantly the lowest levels of hope on the Beck Hopelessness Scale and self-esteem using the Multidimensional Self-esteem Inventory. As predicted, the high insight/minimal stigma group also had significantly less impaired social function than the other groups. Implications for assisting persons to come to cope with awareness of illness and stigma are discussed.

  10. Autism Spectrum Disorder

    Science.gov (United States)

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

  11. Action control processes in autism spectrum disorder--insights from a neurobiological and neuroanatomical perspective.

    Science.gov (United States)

    Chmielewski, Witold X; Beste, Christian

    2015-01-01

    Autism spectrum disorders (ASDs) encompass a range of syndromes that are characterized by social interaction impairments, verbal and nonverbal communication difficulties, and stereotypic or repetitive behaviours. Although there has been considerable progress in understanding the mechanisms underlying the changes in the 'social' and 'communicative' aspects of ASD, the neurofunctional architecture of repetitive and stereotypic behaviours, as well as other cognitive domains related to response and action control, remain poorly understood. Based on the findings of neurobiological and neuroanatomical alterations in ASD and the functional neuroanatomy and neurobiology of different action control functions, we emphasize that changes in action control processes, including response inhibition, conflict and response monitoring, task switching, dual-tasking, motor timing, and error monitoring, are important facets of ASD. These processes must be examined further to understand the executive control deficits in ASD that are related to stereotypic or repetitive behaviours as a major facet of ASD. The review shows that not all domains of action control are strongly affected in ASD. Several factors seem to determine the consistency with which alterations in cognitive control are reported. These factors relate to the relevance of neurobiological changes in ASD for the cognitive domains examined and in how far action control relies upon the adjustment of prior experience. Future directions and hypotheses are outlined that may guide basic and clinical research on action control in ASD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Systems Factorial Technology provides new insights on global-local information processing in autism spectrum disorders.

    Science.gov (United States)

    Johnson, Shannon A; Blaha, Leslie M; Houpt, Joseph W; Townsend, James T

    2010-02-01

    Previous studies of global-local processing in autism spectrum disorders (ASDs) have indicated mixed findings, with some evidence of a local processing bias, or preference for detail-level information, and other results suggesting typical global advantage, or preference for the whole or gestalt. Findings resulting from this paradigm have been used to argue for or against a detail focused processing bias in ASDs, and thus have important theoretical implications. We applied Systems Factorial Technology, and the associated Double Factorial Paradigm (both defined in the text), to examine information processing characteristics during a divided attention global-local task in high-functioning individuals with an ASD and typically developing controls. Group data revealed global advantage for both groups, contrary to some current theories of ASDs. Information processing models applied to each participant revealed that task performance, although showing no differences at the group level, was supported by different cognitive mechanisms in ASD participants compared to controls. All control participants demonstrated inhibitory parallel processing and the majority demonstrated a minimum-time stopping rule. In contrast, ASD participants showed exhaustive parallel processing with mild facilitatory interactions between global and local information. Thus our results indicate fundamental differences in the stopping rules and channel dependencies in individuals with an ASD.

  13. Intellectual Development in Autism Spectrum Disorders: New Insights from Longitudinal Studies

    Directory of Open Access Journals (Sweden)

    Giacomo eVivanti

    2013-07-01

    Full Text Available The presence/absence of Intellectual Disability (ID is considered to be the most critical factor affecting outcomes in individuals with Autism Spectrum Disorders (ASD. However, the question of the specific nature of ID in ASD has received little attention, with the current view being that ID is a co-morbid condition (i.e., one that is unrelated in etiology and causality from the ASD itself. Recent advances in developmental neuroscience, highlighting the importance of early exposure to social experiences for cognitive development, support an alternative view; that ID in ASD might emerge as a consequence of severe social-communication deficits on the experience-dependent mechanisms underlying neurocognitive development. We tested this prediction in two independent samples of young children with ASD (Ns=23 and 60, finding that children with greater ASD severity at an initial assessment were more likely to present with poorer cognitive outcomes at a later assessment, irrespective of initial cognitive level. These results suggest that ASD symptom severity contributes to the extent to which the environmental input required to support ‘typical’ brain development can be processed by the individual, so that the risk of developing ID increases as the number and severity of ASD social-communicative impairments increase.

  14. JAKE® Multimodal Data Capture System: Insights from an Observational Study of Autism Spectrum Disorder.

    Science.gov (United States)

    Ness, Seth L; Manyakov, Nikolay V; Bangerter, Abigail; Lewin, David; Jagannatha, Shyla; Boice, Matthew; Skalkin, Andrew; Dawson, Geraldine; Janvier, Yvette M; Goodwin, Matthew S; Hendren, Robert; Leventhal, Bennett; Shic, Frederick; Cioccia, Walter; Pandina, Gahan

    2017-01-01

    Objective: To test usability and optimize the Janssen Autism Knowledge Engine (JAKE®) system's components, biosensors, and procedures used for objective measurement of core and associated symptoms of autism spectrum disorder (ASD) in clinical trials. Methods: A prospective, observational study of 29 children and adolescents with ASD using the JAKE system was conducted at three sites in the United States. This study was designed to establish the feasibility of the JAKE system and to learn practical aspects of its implementation. In addition to information collected by web and mobile components, wearable biosensor data were collected both continuously in natural settings and periodically during a battery of experimental tasks administered in laboratory settings. This study is registered at clinicaltrials.gov, NCT02299700. Results: Feedback collected throughout the study allowed future refinements to be planned for all components of the system. The Autism Behavior Inventory (ABI), a parent-reported measure of ASD core and associated symptoms, performed well. Among biosensors studied, the eye-tracker, sleep monitor, and electrocardiogram were shown to capture high quality data, whereas wireless electroencephalography was difficult to use due to its form factor. On an exit survey, the majority of parents rated their overall reaction to JAKE as positive/very positive. No significant device-related events were reported in the study. Conclusion: The results of this study, with the described changes, demonstrate that the JAKE system is a viable, useful, and safe platform for use in clinical trials of ASD, justifying larger validation and deployment studies of the optimized system.

  15. JAKE® Multimodal Data Capture System: Insights from an Observational Study of Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Seth L. Ness

    2017-09-01

    Full Text Available Objective: To test usability and optimize the Janssen Autism Knowledge Engine (JAKE® system's components, biosensors, and procedures used for objective measurement of core and associated symptoms of autism spectrum disorder (ASD in clinical trials.Methods: A prospective, observational study of 29 children and adolescents with ASD using the JAKE system was conducted at three sites in the United States. This study was designed to establish the feasibility of the JAKE system and to learn practical aspects of its implementation. In addition to information collected by web and mobile components, wearable biosensor data were collected both continuously in natural settings and periodically during a battery of experimental tasks administered in laboratory settings. This study is registered at clinicaltrials.gov, NCT02299700.Results: Feedback collected throughout the study allowed future refinements to be planned for all components of the system. The Autism Behavior Inventory (ABI, a parent-reported measure of ASD core and associated symptoms, performed well. Among biosensors studied, the eye-tracker, sleep monitor, and electrocardiogram were shown to capture high quality data, whereas wireless electroencephalography was difficult to use due to its form factor. On an exit survey, the majority of parents rated their overall reaction to JAKE as positive/very positive. No significant device-related events were reported in the study.Conclusion: The results of this study, with the described changes, demonstrate that the JAKE system is a viable, useful, and safe platform for use in clinical trials of ASD, justifying larger validation and deployment studies of the optimized system.

  16. Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants

    Science.gov (United States)

    Zwaigenbaum, Lonnie; Bryson, Susan; Lord, Catherine; Rogers, Sally; Carter, Alice; Carver, Leslie; Chawarska, Kasia; Constantino, John; Dawson, Geraldine; Dobkins, Karen; Fein, Deborah; Iverson, Jana; Klin, Ami; Landa, Rebecca; Messinger, Daniel; Ozonoff, Sally; Sigman, Marian; Stone, Wendy; Tager-Flusberg, Helen; Yirmiya, Nurit

    2010-01-01

    With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group. PMID:19403506

  17. Autism spectrum disorder - childhood disintegrative disorder

    Science.gov (United States)

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

  18. Autism spectrum disorder - Asperger syndrome

    Science.gov (United States)

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

  19. Metacognitive reflective and insight therapy for people in early phase of a schizophrenia spectrum disorder.

    Science.gov (United States)

    Hillis, Jaclyn D; Leonhardt, Bethany L; Vohs, Jenifer L; Buck, Kelly D; Salvatore, Giampaolo; Popolo, Raffaele; Dimaggio, Giancarlo; Lysaker, Paul H

    2015-02-01

    Schizophrenia often involves a loss of metacognitive capacity, the ability to form complex and integrated representations of self and others. Independent of symptoms and neurocognition, deficits in synthetic metacognition are related to difficulties of engaging in goal-directed activities in social and vocational settings. Within this backdrop, we provide a case report of the effects of Metacognitive Reflective Insight Therapy (MERIT) that assisted a patient suffering from first episode schizophrenia during 2 years of individual psychotherapy. A total of 8 elements of MERIT that stimulate and promote metacognitive capacity are presented. As illustrated in this report, these procedures helped the patient move from a state in which he had virtually no complex ideas about himself or others to one in which he had developed integrated and realistic ideas about his own identity and the identity of others. He then could use these representations to understand and effectively respond to life challenges. © 2014 Wiley Periodicals, Inc.

  20. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

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

  1. Autism Spectrum Disorder

    Centers for Disease Control (CDC) Podcasts

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

  2. Fetal Alcohol Spectrum Disorders

    Science.gov (United States)

    Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages, before ... can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Children who are born with ...

  3. Violations of Personal Space in Young People with Autism Spectrum Disorders and Williams Syndrome: Insights from the Social Responsiveness Scale

    Science.gov (United States)

    Lough, Emma; Hanley, Mary; Rodgers, Jacqui; South, Mikle; Kirk, Hannah; Kennedy, Daniel P.; Riby, Deborah M.

    2015-01-01

    Interpersonal distance regulation is crucial for successful social interactions. We investigated personal space awareness in Williams syndrome (WS) and autism spectrum disorder (ASD) compared to typical development. Parents reported that individuals with WS and ASD were significantly more likely than those developing typically to invade the…

  4. Stigma moderates the associations of insight with depressed mood, low self-esteem, and low quality of life in patients with schizophrenia spectrum disorders.

    Science.gov (United States)

    Staring, A B P; Van der Gaag, M; Van den Berge, M; Duivenvoorden, H J; Mulder, C L

    2009-12-01

    Good insight into illness in patients with schizophrenia is related not only to medication compliance and high service engagement, but also to depression, low self-esteem, and low quality of life. The detrimental effects of insight pose a problem for treatment. To investigate whether the negative associations of good insight are moderated by perceived stigma. Respondents were 114 patients with schizophrenia spectrum disorders. We used Analyses of Variance (ANOVA) and Structural Equation Modeling (SEM) to test moderation. Good insight was associated with high service engagement and high compliance. Also, good insight was associated with depressed mood, low quality of life, and negative self-esteem. This association was strong when stigma was high and weak when stigma was low. SEM showed that the constrained model performed significantly worse than the unconstrained model, in which detrimental associations of insight were free to vary across stigma groups (chi(2)=19.082; df=3; plow quality of life, and negative self-esteem are moderated by stigma. Patients with good insight who do not perceive much stigmatization seem to be best off across various outcome parameters. Those with poor insight have problems with service engagement and medication compliance. Patients with good insight accompanied by stigmatizing beliefs have the highest risk of experiencing low quality of life, negative self-esteem, and depressed mood. A clinical implication is that when it is attempted to increase insight, perceived stigma should also be addressed.

  5. Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Rebecca E. Rosenberg

    2011-01-01

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

  6. Autism Spectrum Disorder

    Centers for Disease Control (CDC) Podcasts

    2014-04-02

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

  7. Neuromyelitis Optica Spectrum Disorders.

    Science.gov (United States)

    Akaishi, Tetsuya; Nakashima, Ichiro; Sato, Douglas Kazutoshi; Takahashi, Toshiyuki; Fujihara, Kazuo

    2017-05-01

    Neuromyelitis optica (NMO) is clinically characterized by severe optic neuritis and transverse myelitis, but recent studies with anti-aquaporin-4-antibody specific to NMO have revealed that the clinical spectrum is wider than previously thought. International consensus diagnostic criteria propose NMO spectrum disorders (NMOSD) as the term to define the entire spectrum including typical NMO, optic neuritis, acute myelitis, brain syndrome, and their combinations. NMOSD is now divided into anti-aquaporin-4-antibody-seropositive NMOSD and -seronegative NMOSD (or unknown serostatus). MR imaging and optical coherence tomography are indispensable in the diagnosis and evaluation of NMOSD. This article reviews the clinical and MR imaging findings of anti-aquaporin-4-antibody-seropositive and anti-myelin oligodendrocyte glycoprotein-antibody-seropositive NMOSD. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Stoppage in Autism Spectrum Disorders

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  9. Regression in autistic spectrum disorders.

    Science.gov (United States)

    Stefanatos, Gerry A

    2008-12-01

    A significant proportion of children diagnosed with Autistic Spectrum Disorder experience a developmental regression characterized by a loss of previously-acquired skills. This may involve a loss of speech or social responsitivity, but often entails both. This paper critically reviews the phenomena of regression in autistic spectrum disorders, highlighting the characteristics of regression, age of onset, temporal course, and long-term outcome. Important considerations for diagnosis are discussed and multiple etiological factors currently hypothesized to underlie the phenomenon are reviewed. It is argued that regressive autistic spectrum disorders can be conceptualized on a spectrum with other regressive disorders that may share common pathophysiological features. The implications of this viewpoint are discussed.

  10. Insight in schizophrenia spectrum disorders: relationship with behavior, mood and perceived quality of life, underlying causes and emerging treatments.

    Science.gov (United States)

    Lysaker, Paul H; Pattison, Michelle L; Leonhardt, Bethany L; Phelps, Scott; Vohs, Jenifer L

    2018-02-01

    Poor insight in schizophrenia is prevalent across cultures and phases of illness. In this review, we examine the recent research on the relationship of insight with behavior, mood and perceived quality of life, on its complex roots, and on the effects of existing and emerging treatments. This research indicates that poor insight predicts poorer treatment adherence and therapeutic alliance, higher symptom severity and more impaired community function, while good insight predicts a higher frequency of depression and demoralization, especially when coupled with stigma and social disadvantage. This research also suggests that poor insight may arise in response to biological, experiential, neuropsychological, social-cognitive, metacognitive and socio-political factors. Studies of the effects of existing and developing treatments indicate that they may influence insight. In the context of earlier research and historical models, these findings support an integrative model of poor insight. This model suggests that insight requires the integration of information about changes in internal states, external circumstances, others' perspectives and life trajectory as well as the multifaceted consequences and causes of each of those changes. One implication is that treatments should, beyond providing education, seek to assist persons with schizophrenia to integrate the broad range of complex and potentially deeply painful experiences which are associated with mental illness into their own personally meaningful, coherent and adaptive picture. © 2018 World Psychiatric Association.

  11. Autism Spectrum Disorders (Pervasive Developmental Disorders)

    Science.gov (United States)

    Strock, Margaret

    2007-01-01

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

  12. [Autism spectrum disorders in adults

    NARCIS (Netherlands)

    Kan, C.C.; Buitelaar, J.K.; Gaag, R.J. van der

    2008-01-01

    Early infantile autism' as defined by Kanner has grown into a spectrum of autistic disorders. The recognition of Asperger's disorder and of pervasive developmental disorder not otherwise specified (PDD-NOS), has led to increased demand for appropriate diagnostic assessment of autism in adults. The

  13. Autism Spectrum Disorders (ASD) and Diet

    Science.gov (United States)

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

  14. Autism Spectrum Disorder and Fragile X Syndrome

    Science.gov (United States)

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

  15. Therapies for Children With Autism Spectrum Disorder

    Science.gov (United States)

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

  16. Family Process - Autism Spectrum Disorders

    OpenAIRE

    Benson, Mark

    2012-01-01

    Slides for a talk about family process and the importance of parenting dimensions in adolescent development. The slides list findings to date, and propose research into the influence of family on outcomes for those diagnosed with an autism spectrum disorder.

  17. Deafness and Autistic Spectrum Disorders

    Science.gov (United States)

    Vernon, McCay; Rhodes, Anthony

    2009-01-01

    An orientation to autistic spectrum disorders (ASD), also known as autism, is provided, and the specific syndrome of autism and deafness is addressed. The two conditions have in common a major problem: communication. Case histories are provided, the development of treatment for autism is discussed, and the separate disorders that make up ASD are…

  18. Clinical neurogenetics: autism spectrum disorders.

    Science.gov (United States)

    Mehta, Sunil Q; Golshani, Peyman

    2013-11-01

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

  19. Autism Spectrum Disorders in Iran

    OpenAIRE

    Mohammad Reza MOHAMMADI; Maryam SALMANIAN; Shahin AKHONDZADEH

    2011-01-01

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

  20. Insight in seasonal affective disorder.

    Science.gov (United States)

    Ghaemi, S N; Sachs, G S; Baldassano, C F; Truman, C J

    1997-01-01

    Lack of insight complicates the evaluation and treatment of patients with psychotic and affective disorders. No studies of insight in seasonal affective disorder (SAD) have been reported. Thirty patients with SAD diagnosed by the Structured Clinical Interview for DSM-III-R but no other axis I conditions were treated short-term with light-therapy. Insight was measured with the Scale to Assess Unawareness of Mental Disorder (SUMD) as modified by the authors to assess the self-report of insight into depressive symptoms. Increasing scores (1 to 5) indicated increasing unawareness of illness (i.e., less insight). SAD patients displayed a moderate amount of insight when depressed (mean SUMD score, 2.5). When recovered, they showed no significant change in insight into past depressive symptoms (mean SUMD score, 2.8). Greater insight into current depressive symptoms correlated with more depressive symptoms on the Hamilton Rating Scale for Depression score ([HRSD] r = .35, P depressive symptoms that does not change after recovery, a result in agreement with studies of insight in psychosis and mania. Further, in SAD, increased severity of illness may be associated with increased insight into depressive symptoms, consistent with the hypothesis of depressive realism.

  1. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

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

  2. Epilepsy: A Spectrum Disorder

    Science.gov (United States)

    Sirven, Joseph I.

    2015-01-01

    Epilepsy, a disorder of unprovoked seizures is a multifaceted disease affecting individuals of all ages with a particular predilection for the very young and old. In addition to seizures, many patients often report cognitive and psychiatric problems associated with both the seizures themselves and its therapy. Epilepsy has numerous etiologies both idiopathic and acquired with a wide range of therapeutic responses. Despite numerous treatments available to control repetitive seizures including medications, diets, immunotherapy, surgery, and neuromodulatory devices, a large percentage of patients continue to suffer the consequences of uncontrolled seizures, which include psychosocial stigma and death. PMID:26328931

  3. Neurofeedback in Autism Spectrum Disorders

    Science.gov (United States)

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

    2011-01-01

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

  4. Autism Spectrum Disorders and Epigenetics

    Science.gov (United States)

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

    2010-01-01

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

  5. Genetics Home Reference: autism spectrum disorder

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions ASD Autism spectrum disorder Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Autism spectrum disorder ( ASD ) is a condition that appears very early ...

  6. Autism Spectrum Disorder and Mitochondrial Disease

    Science.gov (United States)

    ... Search Form Controls Cancel Submit Search the CDC Autism Spectrum Disorder (ASD) Note: Javascript is disabled or is not ... with a mitochondrial disease: may also have an autism spectrum disorder, may have some of the symptoms/signs of ...

  7. Autism Spectrum Disorder (ASD): Related Topics

    Science.gov (United States)

    ... Facebook Tweet Share Compartir Q: Do vaccines cause autism spectrum disorder (ASD)? A: Many studies that have looked at whether there is a relationship between vaccines and autism spectrum disorder (ASD). To date, the studies continue to show ...

  8. [Autism spectrum disorder and suicidality].

    Science.gov (United States)

    Huguet, G; Contejean, Y; Doyen, C

    2015-09-01

    Most studies on suicide exclude subjects with autism spectrum disorders, yet there is a risk group. The purpose of this article is to present the data in the literature regarding the clinical and epidemiological characteristics of suicidality in subjects with autism spectrum disorders and to identify the factors that promote the transition to action. This review was carried out using the data set collected in Medline PubMed, items with "autism spectrum disorder", "pervasive developmental disorder", "Asperger's syndrome", "suicide", "suicide attempt", and "suicide behavior". In all subjects from our research on PubMed, 21.3% of subjects with autism spectrum disorder reported suicidal ideation, have attempted suicide or died by suicide (115 out of 539 subjects) and 7.7% of subjects supported for suicidal thoughts or attempted suicide exhibited an autism spectrum disorder (62 out of 806 subjects), all ages combined. Suicidal ideation and morbid preoccupation are particularly common in adolescents and young adults. Suicide attempts are accompanied by a willingness for death and can lead to suicide. They are more common in high-functioning autism and Asperger subjects. The methods used are often violent and potentially lethal or fatal in two cases published. Suicide risk depends on many factors that highlight the vulnerability of these subjects, following autistic and developmental symptoms. Vulnerability complicating the diagnosis of comorbid depressive and anxiety disorders are major factors associated with suicidality. Vulnerability but also directly related to suicidality, since the origin of physical and sexual abuse and victimization by peers assigning them the role of "scapegoat" are both responsible for acting out. Given the diversity of factors involved in the risk of suicide in this population, this does not validate "a" program of intervention, but the intervention of "customized programs". Their implementation should be as early as possible in order to treat

  9. [Theory of mind in schizophrenia spectrum disorders].

    Science.gov (United States)

    Bora, Emre

    2009-01-01

    To review studies that investigated theory of mind (ToM) deficits in schizophrenia spectrum disorders. After a thorough literature search, 71 studies were included in this review. Data regarding the relationship between ToM, and other cognitive skills, symptoms, and the impact of the state of illness were reviewed. ToM instruments used in schizophrenia spectrum disorders have some major psychometric limitations; however, previous research was still able to provide some important findings regarding mentalizing impairments in schizophrenia. While ToM deficits are more pronounced in the acute phase of illness, it seems to persist during periods of remission. There is also evidence of ToM deficits in the healthy relatives of schizophrenics, patients with delusional disorder and bipolar disorder (BD), and individuals with high schizotypy scores. ToM dysfunction might be secondary to other cognitive deficits in patients with schizophrenia that have a good prognosis, asymptomatic schizophrenia, delusional disorder, and BD. Other cognitive deficits do not seem to explain ToM dysfunction in patients with psychosis and severe negative symptoms. These findings support the contribution of impairment in both domain-general and domain-specific mechanisms to ToM deficits in schizophrenia spectrum disorders. ToM deficits may be important for understanding poor social functioning and poor insight in psychotic disorders. While ToM is influenced by state variables, it might be an endophenotype of schizophrenia; however, ToM is likely to be an indicator of other frontal lobe-related endophenotypes. Longitudinal studies conducted with high-risk individuals are particularly important.

  10. Epigenetics of autism spectrum disorders.

    Science.gov (United States)

    Schanen, N Carolyn

    2006-10-15

    The autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived duplications of the imprinted domain on chromosome 15q11-13. Thus, parent of origin effects on sharing and linkage to imprinted regions on chromosomes 15q and 7q suggest that these regions warrant specific examination from an epigenetic perspective, particularly because epigenetic modifications do not change the primary genomic sequence, allowing risk epialleles to evade detection using standard screening strategies. This review examines the potential role of epigenetic factors in the etiology of ASD.

  11. Molecular Imaging in Schizophrenia Spectrum Disorders

    NARCIS (Netherlands)

    Klein, H.C.; Doorduin, J.; van Berckel, B.N.M.

    2014-01-01

    In this chapter, we aim to shed light on the schizophrenia spectrum disorders using molecular imaging. Schizophrenia spectrum disorders consist primarily of the disorders with full-blown psychosis in their course and are grouped in the DSM-IV category of schizophrenia and other psychotic disorders.

  12. Epigenetics of Autism Spectrum Disorder.

    Science.gov (United States)

    Siu, Michelle T; Weksberg, Rosanna

    2017-01-01

    Autism spectrum disorder (ASD), one of the most common childhood neurodevelopmental disorders (NDDs), is diagnosed in 1 of every 68 children. ASD is incredibly heterogeneous both clinically and aetiologically. The etiopathogenesis of ASD is known to be complex, including genetic, environmental and epigenetic factors. Normal epigenetic marks modifiable by both genetics and environmental exposures can result in epigenetic alterations that disrupt the regulation of gene expression, negatively impacting biological pathways important for brain development. In this chapter we aim to summarize some of the important literature that supports a role for epigenetics in the underlying molecular mechanism of ASD. We provide evidence from work in genetics, from environmental exposures and finally from more recent studies aimed at directly determining ASD-specific epigenetic patterns, focusing mainly on DNA methylation (DNAm). Finally, we briefly discuss some of the implications of current research on potential epigenetic targets for therapeutics and novel avenues for future work.

  13. Oppositional defiant disorder: current insight

    Directory of Open Access Journals (Sweden)

    Ghosh A

    2017-11-01

    irritability as a bipolar spectrum abnormality, most studies have explored antipsychotics and mood stabilizers in the management of aggression, with limited effects. Keywords: externalizing disorders, nosology, genetics

  14. Outcome predictors in autism spectrum disorders preschoolers undergoing treatment as usual: insights from an observational study using artificial neural networks

    Directory of Open Access Journals (Sweden)

    Narzisi A

    2015-06-01

    Full Text Available Antonio Narzisi,1 Filippo Muratori,1,2 Massimo Buscema,3,4 Sara Calderoni,1 Enzo Grossi3,5 1Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 2Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy; 3Semeion Research Centre of Sciences of Communication, Rome, Italy; 4Department of Mathematical and Statistical Sciences, University of Colorado Denver, Denver, CO, USA; 5Autism Research Unit, Villa Santa Maria Institute, Tavernerio, Italy Background: Treatment as usual (TAU for autism spectrum disorders (ASDs includes eclectic treatments usually available in the community and school inclusion with an individual support teacher. Artificial neural networks (ANNs have never been used to study the effects of treatment in ASDs. The Auto Contractive Map (Auto-CM is a kind of ANN able to discover trends and associations among variables creating a semantic connectivity map. The matrix of connections, visualized through a minimum spanning tree filter, takes into account nonlinear associations among variables and captures connection schemes among clusters. Our aim is to use Auto-CM to recognize variables to discriminate between responders versus no responders at TAU.Methods: A total of 56 preschoolers with ASDs were recruited at different sites in Italy. They were evaluated at T0 and after 6 months of treatment (T1. The children were referred to community providers for usual treatments. Results: At T1, the severity of autism measured through the Autism Diagnostic Observation Schedule decreased in 62% of involved children (Response, whereas it was the same or worse in 37% of the children (No Response. The application of the Semeion ANNs overcomes the 85% of global accuracy (Sine Net almost reaching 90%. Consequently, some of the tested algorithms were able to find a good correlation between some variables and TAU outcome. The semantic connectivity map obtained with the application of the Auto-CM system showed

  15. The care needs of elderly patients with schizophrenia spectrum disorders

    NARCIS (Netherlands)

    Meesters, P.D.; Comijs, H.C.; Dröes, R.M.; de Haan, L.; Smit, J.H.; Eikelenboom, P.; Beekman, A.T.F.; Stek, M.L.

    2013-01-01

    Objective: Elderly patients constitute the fastest growing segment of the schizophrenia population. Still, their needs for care are poorly understood. This study aimed to gain insight into the care needs of older patients with schizophrenia spectrum disorders. Setting and Participants: Patients,

  16. Autism spectrum disorder: seeing is not understanding.

    Science.gov (United States)

    Fecteau, Shirley; Lepage, Jean-François; Théoret, Hugo

    2006-02-21

    Impairments in social and emotional skills are a defining feature of autism spectrum disorder. Recent research shows that structural and functional abnormalities within the neural system that matches observation and execution of actions--the mirror neuron system--may explain the social aspects of the pathophysiology of autism spectrum disorder.

  17. Developing Undergraduate Coursework in Autism Spectrum Disorders

    Science.gov (United States)

    Masterson, Tracy Loye; Dimitriou, Francine; Turko, Kristine; McPartland, James

    2014-01-01

    With rates of autism spectrum disorders (ASD) continuing to rise alongside improvements in early identification and treatment, service providers are in great demand. Providing undergraduate students with opportunities for education and applied experiences with autism spectrum disorders (ASD) can help fill a valuable niche in the autism community.…

  18. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

    Science.gov (United States)

    Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, Virginia Maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela

    2016-04-12

    Array-CGH (aCGH) is presently used into routine clinical practice for diagnosis of patients with intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorder (ASD). ACGH could detect small chromosomal imbalances, copy number variations (CNVs), and closely define their size and gene content. ACGH detects pathogenic imbalances in 14-20 % of patients with ID. The aims of this study were: to establish clinical clues potentially associated with pathogenic CNVs and to identify cytogenetic indicators to predict the pathogenicity of the variants of uncertain significance (VOUS) in a large cohort of paediatric patients. We enrolled 214 patients referred for either: ID, and/or ASD and/or MCA to genetic services at the Federico II University of Naples, Department of Translational Medicine. For each patient we collected clinical and imaging data. All the patients were tested with aCGH or as first-tier test or as part of a wider diagnostic work-up. Pathologic data were detected in 65 individuals (30 %) and 46 CNVs revealed a known syndrome. The pathological CNVs were usually deletions showing the highest gene-dosage content. The positive family history for ID/ASD/MCA and ASD were good indicators for detecting pathological chromosomal rearrangements. Other clinical features as eyes anomalies, hearing loss, neurological signs, cutaneous dyscromia and endocrinological problems seem to be potential predictors of pathological CNVs. Among patients carrying VOUS we analyzed genetic features including CNVs size, presence of deletion or duplication, genic density, multiple CNVs, to clinical features. Higher gene density was found in patients affected by ID. This result suggest that higher gene content has more chances to include pathogenic gene involved and causing ID in these patients. Our study suggest the use of aCGH as first-tier test in patients with neurdevelopmental phenotypes. The inferred results have been used for building a flow-chart to be

  19. Stigma moderates the associations of insight with depressed mood, low self-esteem, and low quality of life in patients with schizophrenia spectrum disorders

    NARCIS (Netherlands)

    Staring, A.B.P.; van der Gaag, M.; van den Berge, M.; Duivenvoorden, H.J.; Mulder, C.L.

    2009-01-01

    Abstract Background Good insight into illness in patients with schizophrenia is related not only to medication compliance and high service engagement, but also to depression, low self-esteem, and low quality of life. The detrimental effects of insight pose a problem for treatment. Aim To investigate

  20. Psychotherapy for Anxiety in Children With Autism Spectrum Disorder

    Science.gov (United States)

    2017-11-30

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

  1. Autism Spectrum Disorder: Primary Care Principles.

    Science.gov (United States)

    Sanchack, Kristian E; Thomas, Craig A

    2016-12-15

    Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills. Therefore, early identification of autism spectrum disorder is important, and experts recommend the use of a validated screening tool at 18- and 24-month well-child visits. Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis and the presence of intellectual disability. Children with optimal outcomes receive earlier, more intensive behavioral interventions and less pharmacologic treatment.

  2. Sensory Experiences of Children with Autism Spectrum Disorder: In Their Own Words

    Science.gov (United States)

    Kirby, Anne V.; Dickie, Virginia A.; Baranek, Grace T.

    2015-01-01

    First-person perspectives of children with autism spectrum disorder are rarely included in research, yet their voices may help more clearly illuminate their needs. This study involved phenomenological interviews with children with autism spectrum disorder (n = 12, ages 4-13) used to gain insights about their sensory experiences. This article…

  3. Self-disorders in schizophrenia-spectrum disorders

    DEFF Research Database (Denmark)

    Nordgaard, Julie; Nilsson, Lars Siersbæk; Sæbye, Ditte

    2017-01-01

    Self-disorders have been hypothesized to be an underlying and trait-like core feature of schizophrenia-spectrum disorders and a certain degree of temporal stability of self-disorders would therefore be expected. The aim of the study was to examine the persistence of self-disorders measured...... by the Examination of Anomalous Self Experiences over a time span of 5 years. 48 patients with schizophrenia-spectrum disorders were thoroughly assessed for psychopathology at baseline and 5 years later. Self-disorders were assessed by the Examination of Anomalous Self Experiences. The level of self-disorders...... was same at the two occasions for the full Examination of Anomalous Self Disorders and for four out of the five domains. For one domain, the level of self-disorders increased slightly from baseline to follow-up. The correlations between baseline and follow-up were moderate. 9 out of the 13 most...

  4. Gestational Age and Autism Spectrum Disorder

    DEFF Research Database (Denmark)

    Atladóttir, H Ó; Schendel, D.E.; Henriksen, T B

    2016-01-01

    Autism Spectrum Disorder (ASD) is a serious neurodevelopmental disorder. Several previous studies have identified pre-term birth as a risk factor for ASD but none has studied whether the association between gestational age and ASD has changed over time. This is a Danish population-based follow...

  5. [Recognition of autism spectrum disorders in adults

    NARCIS (Netherlands)

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

    2008-01-01

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

  6. Premorbid neurocognitive functioning in schizophrenia spectrum disorder

    DEFF Research Database (Denmark)

    Sørensen, Holger J; Mortensen, Erik L; Parnas, Josef

    2006-01-01

    in adolescence, the aim of the present prospective study was to examine whether low scores on Coding is associated with the risk of developing schizophrenia spectrum disorders. The 12 subtests of the WISC were administered to 311 children and adolescents with a mean age of 15.1 years (range: 8 to 20 years...... was 0.97 (95% CI 0.94-1.00) (p = .022), and the risk of schizophrenia spectrum disorder decreased by 3% (95% CI 6 to 0%). The Coding deficit on the WISC may indicate deficits in perceptual motor speed or in working memory processing speed in young individuals who later develop schizophrenia, schizotypal...... personality disorder, or other disorders within the schizophrenia spectrum....

  7. Avoidant personality disorder: current insights

    OpenAIRE

    Lampe,Lisa; Malhi,Gin

    2018-01-01

    Lisa Lampe,1 Gin S Malhi2 1Discipline of Psychiatry, University of Newcastle, Newcastle, NSW, Australia; 2Discipline of Psychiatry, University of Sydney, Sydney, NSW, Australia Abstract: Avoidant personality disorder (AVPD) is a relatively common disorder that is associated with significant distress, impairment, and disability. It is a chronic disorder with an early age at onset and a lifelong impact. Yet it is underrecognized and poorly studied. Little is known regarding the most effective t...

  8. Avoidant personality disorder: current insights

    Directory of Open Access Journals (Sweden)

    Lampe L

    2018-03-01

    Full Text Available Lisa Lampe,1 Gin S Malhi2 1Discipline of Psychiatry, University of Newcastle, Newcastle, NSW, Australia; 2Discipline of Psychiatry, University of Sydney, Sydney, NSW, Australia Abstract: Avoidant personality disorder (AVPD is a relatively common disorder that is associated with significant distress, impairment, and disability. It is a chronic disorder with an early age at onset and a lifelong impact. Yet it is underrecognized and poorly studied. Little is known regarding the most effective treatment. The impetus for research into this condition has waxed and waned, possibly due to concerns regarding its distinctiveness from other disorders, especially social anxiety disorder (SAD, schizoid personality disorder, and dependent personality disorder. The prevailing paradigm subscribes to the “severity continuum hypothesis”, in which AVPD is viewed essentially as a severe variant of SAD. However, areas of discontinuity have been described, and there is support for retaining AVPD as a distinct diagnostic category. Recent research has focused on the phenomenology of AVPD, factors of possible etiological significance such as early parenting experiences, attachment style, temperament, and cognitive processing. Self-concept, avoidant behavior, early attachments, and attachment style may represent points of difference from SAD that also have relevance to treatment. Additional areas of research not focused specifically on AVPD, including the literature on social cognition as it relates to attachment and personality style, report findings that are promising for future research aimed at better delineating AVPD and informing treatment. Keywords: avoidant personality disorder, social anxiety disorder, social cognition, psychotherapy, attachment

  9. Premorbid neurocognitive functioning in schizophrenia spectrum disorder

    DEFF Research Database (Denmark)

    Sørensen, Holger Jelling; Mortensen, E.L.; Parnas, Josef

    2006-01-01

    in WISC IQ. Logistic regression analysis controlling for age at examination, gender, and social status yielded a significant, but relatively weak, association between low Coding test score and risk of schizophrenia spectrum disorder. For each unit increase in the Coding raw score, the adjusted odds ratio...... in adolescence, the aim of the present prospective study was to examine whether low scores on Coding is associated with the risk of developing schizophrenia spectrum disorders. The 12 subtests of the WISC were administered to 311 children and adolescents with a mean age of 15.1 years (range: 8 to 20 years......), and the diagnostic assessment (DSM-IIIR) was conducted by senior clinicians 25 years later. The group with schizophrenia spectrum disorder consisted of 84 individuals, and this group obtained significantly lower scores on Coding than nonschizophrenic controls. This difference could not be explained by differences...

  10. Avoidant personality disorder: current insights.

    Science.gov (United States)

    Lampe, Lisa; Malhi, Gin S

    2018-01-01

    Avoidant personality disorder (AVPD) is a relatively common disorder that is associated with significant distress, impairment, and disability. It is a chronic disorder with an early age at onset and a lifelong impact. Yet it is underrecognized and poorly studied. Little is known regarding the most effective treatment. The impetus for research into this condition has waxed and waned, possibly due to concerns regarding its distinctiveness from other disorders, especially social anxiety disorder (SAD), schizoid personality disorder, and dependent personality disorder. The prevailing paradigm subscribes to the "severity continuum hypothesis", in which AVPD is viewed essentially as a severe variant of SAD. However, areas of discontinuity have been described, and there is support for retaining AVPD as a distinct diagnostic category. Recent research has focused on the phenomenology of AVPD, factors of possible etiological significance such as early parenting experiences, attachment style, temperament, and cognitive processing. Self-concept, avoidant behavior, early attachments, and attachment style may represent points of difference from SAD that also have relevance to treatment. Additional areas of research not focused specifically on AVPD, including the literature on social cognition as it relates to attachment and personality style, report findings that are promising for future research aimed at better delineating AVPD and informing treatment.

  11. Avoidant personality disorder: current insights

    Science.gov (United States)

    Lampe, Lisa; Malhi, Gin S

    2018-01-01

    Avoidant personality disorder (AVPD) is a relatively common disorder that is associated with significant distress, impairment, and disability. It is a chronic disorder with an early age at onset and a lifelong impact. Yet it is underrecognized and poorly studied. Little is known regarding the most effective treatment. The impetus for research into this condition has waxed and waned, possibly due to concerns regarding its distinctiveness from other disorders, especially social anxiety disorder (SAD), schizoid personality disorder, and dependent personality disorder. The prevailing paradigm subscribes to the “severity continuum hypothesis”, in which AVPD is viewed essentially as a severe variant of SAD. However, areas of discontinuity have been described, and there is support for retaining AVPD as a distinct diagnostic category. Recent research has focused on the phenomenology of AVPD, factors of possible etiological significance such as early parenting experiences, attachment style, temperament, and cognitive processing. Self-concept, avoidant behavior, early attachments, and attachment style may represent points of difference from SAD that also have relevance to treatment. Additional areas of research not focused specifically on AVPD, including the literature on social cognition as it relates to attachment and personality style, report findings that are promising for future research aimed at better delineating AVPD and informing treatment. PMID:29563846

  12. Spectrum of Endocrine Disorders in Central Ghana

    Directory of Open Access Journals (Sweden)

    Osei Sarfo-Kantanka

    2017-01-01

    Full Text Available Background. Although an increasing burden of endocrine disorders is recorded worldwide, the greatest increase is occurring in developing countries. However, the spectrum of these disorders is not well described in most developing countries. Objective. The objective of this study was to profile the frequency of endocrine disorders and their basic demographic characteristics in an endocrine outpatient clinic in Kumasi, central Ghana. Methods. A retrospective review was conducted on endocrine disorders seen over a five-year period between January 2011 and December 2015 at the outpatient endocrine clinic of Komfo Anokye Teaching Hospital. All medical records of patients seen at the endocrine clinic were reviewed by endocrinologists and all endocrinological diagnoses were classified according to ICD-10. Results. 3070 adults enrolled for care in the endocrine outpatient service between 2011 and 2015. This comprised 2056 females and 1014 males (female : male ratio of 2.0 : 1.0 with an overall median age of 54 (IQR, 41–64 years. The commonest primary endocrine disorders seen were diabetes, thyroid, and adrenal disorders at frequencies of 79.1%, 13.1%, and 2.2%, respectively. Conclusions. Type 2 diabetes and thyroid disorders represent by far the two commonest disorders seen at the endocrine clinic. The increased frequency and wide spectrum of endocrine disorders suggest the need for well-trained endocrinologists to improve the health of the population.

  13. Comorbid Social Anxiety Disorder in Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Maddox, Brenna B.; White, Susan W.

    2015-01-01

    Social anxiety symptoms are common among cognitively unimpaired youth with autism spectrum disorder (ASD). Few studies have investigated the co-occurrence of social anxiety disorder (SAD) in adults with ASD, although identification may aid access to effective treatments and inform our scientific efforts to parse heterogeneity. In this preliminary…

  14. Autism Spectrum Disorders in Children with Functional Defecation Disorders

    NARCIS (Netherlands)

    Peeters, B.; Noens, I.; Philips, E.M.; Kuppens, S.P.E.; Benninga, M.A.

    2013-01-01

    Objective: To prospectively assess the prevalence of autism spectrum disorder (ASD) symptoms in children presenting with functional defecation disorders. Study design: Children (age 4-12 years) with functional constipation or functional non-retentive fecal incontinence according to the Rome III

  15. Autism spectrum disorders in children with functional defecation disorders

    NARCIS (Netherlands)

    Peeters, Babette; Noens, Ilse; Philips, Elise M.; Kuppens, Sofie; Benninga, Marc A.

    2013-01-01

    To prospectively assess the prevalence of autism spectrum disorder (ASD) symptoms in children presenting with functional defecation disorders. Children (age 4-12 years) with functional constipation or functional non-retentive fecal incontinence according to the Rome III criteria referred to a

  16. Otitis and autism spectrum disorders

    OpenAIRE

    Tajima-Pozo, Kazuhiro; Zambrano-Enriquez, Diana; De Anta, Laura; Zelmanova, Julie; De Dios Vega, Jose Luis; Lopez-Ibor, Juan Jose

    2010-01-01

    The case of a 5-year-old child diagnosed as having pervasive developmental disorder (PDD), autistic type, from age 1 is reported. After surgery of vegetation in middle ear for repetitive otitis, the child presented an improvement in autistic behaviours, previously expressed as impaired social interactions, qualitative abnormalities in communication, a marked delay in language development, echolalia, stereotypies and self-aggressive behaviours. The aim of this paper is to bring attention to oc...

  17. Autism Spectrum Disorders and Implications for Teachers

    Science.gov (United States)

    Echaniz, Crystal; Cronin, Kathleen A.

    2014-01-01

    This paper reviews characteristics of autism spectrum disorders (ASD), possible causes of ASD, current demographic information, the effects on the individual with ASD and the family, as well as diversity and multicultural issues related to autism. Additionally, the paper provides pertinent information about students with ASD for both general…

  18. Korean Culture and Autism Spectrum Disorders

    Science.gov (United States)

    Kang-Yi, Christina D.; Grinker, Roy R.; Mandell, David S.

    2013-01-01

    This paper reviews the literature on early child development among Koreans, with a focus on autism spectrum disorders (ASD). The literature review of 951 abstracts in English, 101 abstracts in Korean and 27 full articles published from 1994 to 2011 was performed to understand the presentation of and response to ASD in Korean culture. Based on…

  19. Diagnosing autism spectrum disorders in elderly people

    NARCIS (Netherlands)

    van Niekerk, Maarten E. H.; Groen, Wouter; Vissers, Constance Th. W. M.; van Driel-de Jong, Dorine; Kan, Cees C.; Voshaar, Richard C. Oude

    Background: As autism spectrum disorders (ASD) have largely been neglected in old-age psychiatry, the objective of the present paper is to describe the diagnostic process in elderly patients. Methods: A systematic review of the literature on ASD in older age was undertaken and illustrated by a case

  20. School Nurses' Knowledge of Autism Spectrum Disorders

    Science.gov (United States)

    Strunk, Julie A.

    2009-01-01

    The purpose of this study was to determine school nurses' working knowledge of autism spectrum disorders (ASDs). The current knowledge of school nurses was investigated by means of a mixed-method exploratory descriptive pilot study. Instrumentation included a scale that measured the knowledge of school nurses in regard to ASD, including medication…

  1. Atypical Saccadic Scanning in Autistic Spectrum Disorder

    Science.gov (United States)

    Benson, Valerie; Piper, Jenna; Fletcher-Watson, Sue

    2009-01-01

    Saccadic scanning was examined for typically developing (TD) adults and those with autistic spectrum disorder (ASD) during inspection of the "Repin" picture (Yarbus, A. (1967). "Eye movements and vision". New York: Plenum) under two different viewing instructions: (A) material instructions ("Estimate the material circumstances of the family"); and…

  2. Facial Feedback Mechanisms in Autistic Spectrum Disorders

    Science.gov (United States)

    Stel, Marielle; van den Heuvel, Claudia; Smeets, Raymond C.

    2008-01-01

    Facial feedback mechanisms of adolescents with Autistic Spectrum Disorders (ASD) were investigated utilizing three studies. Facial expressions, which became activated via automatic (Studies 1 and 2) or intentional (Study 2) mimicry, or via holding a pen between the teeth (Study 3), influenced corresponding emotions for controls, while individuals…

  3. Novel Treatments for Autistic Spectrum Disorders

    Science.gov (United States)

    Levy, Susan E.; Hyman, Susan L.

    2005-01-01

    In no area of developmental pediatric practice is there more controversy regarding the choice of treatment than related to children with autistic spectrum disorders (ASD). Complementary and alternative medical therapies (CAM) are often elected because they are perceived as treating the cause of symptoms rather than the symptoms themselves. CAM…

  4. Deaf Children with Autism Spectrum Disorders

    Science.gov (United States)

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

    2012-01-01

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

  5. Preserved Proactive Interference in Autism Spectrum Disorder

    Science.gov (United States)

    Carmo, Joana C.; Duarte, Elsa; Pinho, Sandra; Filipe, Carlos N.; Marques, J. Frederico

    2016-01-01

    In this study, we aimed to evaluate further the functioning and structuring of the semantic system in autism spectrum disorders (ASD). We analyzed the performance of 19 high-functioning young adults with ASD and a group of 20 age-, verbal IQ- and education-matched individuals with the Proactive Interference (PI) Paradigm to evaluate semantic…

  6. Traumatic Childhood Events and Autism Spectrum Disorder

    Science.gov (United States)

    Kerns, Connor Morrow; Newschaffer, Craig J.; Berkowitz, Steven J.

    2015-01-01

    Traumatic childhood events are associated with a wide range of negative physical, psychological and adaptive outcomes over the life course and are one of the few identifiable causes of psychiatric illness. Children with autism spectrum disorder (ASD) may be at increased risk for both encountering traumatic events and developing traumatic sequelae;…

  7. Autism Spectrum Disorders Associated with Chromosomal Abnormalities

    Science.gov (United States)

    Lo-Castro, Adriana; Benvenuto, Arianna; Galasso, Cinzia; Porfirio, Cristina; Curatolo, Paolo

    2010-01-01

    Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several "monogenic" forms of autism have been…

  8. Fundamental Movement Skills and Autism Spectrum Disorders

    Science.gov (United States)

    Staples, Kerri L.; Reid, Greg

    2010-01-01

    Delays and deficits may both contribute to atypical development of movement skills by children with ASD. Fundamental movement skills of 25 children with autism spectrum disorders (ASD) (ages 9-12 years) were compared to three typically developing groups using the "Test of Gross Motor Development" ("TGMD-2"). The group matched on chronological age…

  9. Supporting University Students with Autism Spectrum Disorder

    Science.gov (United States)

    Hillier, Ashleigh; Goldstein, Jody; Murphy, Deirdra; Trietsch, Rhoda; Keeves, Jacqueline; Mendes, Eva; Queenan, Alexa

    2018-01-01

    Increasing numbers of students with autism spectrum disorder are entering higher education. Their success can be jeopardized by organizational, social/emotional, and academic challenges if appropriate supports are not in place. Our objective was to evaluate the effectiveness of a support group model for university students with autism spectrum…

  10. Bullying Among Youth with Autism Spectrum Disorders

    NARCIS (Netherlands)

    Schrooten, I.; Scholte, Ron H. J.; Didden, Robert

    2017-01-01

    Students with disabilities and/or autism spectrum disorders (ASD) are particularly vulnerable to be involved in bullying compared to their peers without ASD. Studies have found that students with ASD are at higher risk to be involved in bullying as a bully (i.e., perpetrator of bullying), a victim

  11. Unbroken Mirror Neurons in Autism Spectrum Disorders

    Science.gov (United States)

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

    2010-01-01

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

  12. Olfactory dysfunction in neuromyelitis optica spectrum disorders

    NARCIS (Netherlands)

    Zhang, L.J.; Zhao, N.; Fu, Y.; Zhang, D.Q.; Wang, J.; Qin, W.; Zhang, N.N.N.; Wood, K.; Liu, Y.; Yu, C.S.; Shi, F.D.; Yang, L.

    2015-01-01

    Few data were available for the understanding of olfactory function in neuromyelitis optica spectrum disorders (NMOSDs). The aims of our study were to investigate the incidence of olfactory dysfunction and characterize olfactory structures, using MRI, in patients with NMOSDs. Olfactory function was

  13. Otitis and autism spectrum disorders

    Science.gov (United States)

    Tajima-Pozo, Kazuhiro; Zambrano-Enriquez, Diana; De Anta, Laura; Zelmanova, Julie; De Dios Vega, Jose Luis; Lopez-Ibor, Juan Jose

    2010-01-01

    The case of a 5-year-old child diagnosed as having pervasive developmental disorder (PDD), autistic type, from age 1 is reported. After surgery of vegetation in middle ear for repetitive otitis, the child presented an improvement in autistic behaviours, previously expressed as impaired social interactions, qualitative abnormalities in communication, a marked delay in language development, echolalia, stereotypies and self-aggressive behaviours. The aim of this paper is to bring attention to occurrences of misdiagnosis of PDD, which can occur when an adequate screening of the autistic syndrome is not realised. The result of the surgery was an improvement in autistic behaviours, despite the persistence of less severe autistic traits that may be more closely related to Asperger’s syndrome. PMID:22736729

  14. Picture Exchange Communication System for Individuals with Autism Spectrum Disorder

    Science.gov (United States)

    Andersen, Lauren E.

    2010-01-01

    Autism spectrum disorder (ASD) is a neurological disorder that manifests itself within an individual through cognitive, social, and academic deficits. As is true for all spectrum disorders, each individual may experience a range of deficits with varying severity. Many students with autism spectrum disorder experience difficulty in some area of…

  15. Neuroimaging Endophenotypes in Autism Spectrum Disorder

    Science.gov (United States)

    Mahajan, Rajneesh; Mostofsky, Stewart H.

    2015-01-01

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has a strong genetic basis, and is heterogeneous in its etiopathogenesis and clinical presentation. Neuroimaging studies, in concert with neuropathological and clinical research, have been instrumental in delineating trajectories of development in children with ASD. Structural neuroimaging has revealed ASD to be a disorder with general and regional brain enlargement, especially in the frontotemporal cortices, while functional neuroimaging studies have highlighted diminished connectivity, especially between frontal-posterior regions. The diverse and specific neuroimaging findings may represent potential neuroendophenotypes, and may offer opportunities to further understand the etiopathogenesis of ASD, predict treatment response and lead to the development of new therapies. PMID:26234701

  16. Self-disorders and the Schizophrenia Spectrum

    DEFF Research Database (Denmark)

    Nordgaard, Julie; Parnas, Josef

    2014-01-01

    INTRODUCTION: Self-disorders (SD) have been described as a core feature of schizophrenia both in classical and recent psychopathological literature. However, the specificity of SD for the schizophrenia spectrum disorders has never been demonstrated in a diagnostically heterogeneous sample, nor has...... the concurrent validity of SD been examined. AIM: (1) To examine the specificity of Examination of Anomalous Self-Experiences (EASE) measured SD to the schizophrenia spectrum disorder in first contact inpatients, (2) to explore the internal consistency and factorial structure of the EASE, (3) to assess...... the concurrent validity of SD by exploring correlations between SD and the canonical psychopathological dimensions of schizophrenia, (4) to explore relations of SD to intelligence, sociodemographic, and extrinsic illness characteristics. METHODS: A total of 100 consecutive first admission patients underwent...

  17. Anomalies of Imagination and Disordered Self in Schizophrenia Spectrum Disorders

    DEFF Research Database (Denmark)

    Rasmussen, Andreas Christian Rosén; Parnas, Josef

    2015-01-01

    Vivid mental imagery occurs frequently in schizophrenia spectrum disorders (SSDs). Overlapping phenomena, such as obsessions or ruminations, are also frequent in other psychiatric disorders, raising significant diagnostic challenges. Unfortunately, contemporary operational psychopathology lacks...... the epistemological and phenomenological framework to address such questions. Using the resources of phenomenology and philosophy of mind, we articulate the structure of imagination and describe its distinctive modifications in the SSDs. Drawing on pilot data with patients' self-descriptions, we present the notion...

  18. Epigenetics, autism spectrum, and neurodevelopmental disorders.

    Science.gov (United States)

    Rangasamy, Sampathkumar; D'Mello, Santosh R; Narayanan, Vinodh

    2013-10-01

    Epigenetic marks are modifications of DNA and histones. They are considered to be permanent within a single cell during development, and are heritable across cell division. Programming of neurons through epigenetic mechanisms is believed to be critical in neural development. Disruption or alteration in this process causes an array of neurodevelopmental disorders, including autism spectrum disorders (ASDs). Recent studies have provided evidence for an altered epigenetic landscape in ASDs and demonstrated the central role of epigenetic mechanisms in their pathogenesis. Many of the genes linked to the ASDs encode proteins that are involved in transcriptional regulation and chromatin remodeling. In this review we highlight selected neurodevelopmental disorders in which epigenetic dysregulation plays an important role. These include Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Kabuki syndrome. For each of these disorders, we discuss how advances in our understanding of epigenetic mechanisms may lead to novel therapeutic approaches.

  19. Disordered Self in the Schizophrenia Spectrum

    DEFF Research Database (Denmark)

    Parnas, Josef; Henriksen, Mads Gram

    2014-01-01

    This article explores the phenomenological and empirical rediscovery of anomalous self-experience as a core feature of the schizophrenia spectrum disorders and presents the current status of research in this field. Historically, a disordered self was considered to be a constitutive phenotype...... of schizophrenia. Although the notion of a disordered self has continued to appear occasionally over the years-mainly in the phenomenologically or psychodynamically oriented literature-this notion was usually considered as a theoretical construct rather than as referring to concretely lived anomalous experiences....... Empirical research on the disorders of self-experience in schizophrenia can be traced back to the US-Denmark psychopathological collaboration in the well-known adoption and high-risk studies, which aimed at identifying trait or phenotypic vulnerability features. This research was later followed by clinical...

  20. Subthreshold autism spectrum disorder in patients with eating disorders.

    Science.gov (United States)

    Dell'Osso, L; Carpita, B; Gesi, C; Cremone, I M; Corsi, M; Massimetti, E; Muti, D; Calderani, E; Castellini, G; Luciano, M; Ricca, V; Carmassi, C; Maj, M

    2018-02-01

    Increasingly data suggest a possible overlap between psychopathological manifestations of eating disorders (EDs) and autism spectrum disorders (ASD). The aim of the present study was to assess the presence of subthreshold autism spectrum symptoms, by means of a recently validated instrument, in a sample of participants with EDs, particularly comparing participants with or without binge eating behaviours. 138 participants meeting DSM-5 criteria for EDs and 160 healthy control participants (HCs), were recruited at 3 Italian University Departments of Psychiatry and assessed by the SCID-5, the Adult Autism Subthreshold Spectrum (AdAS Spectrum) and the Eating Disorders Inventory, version 2 (EDI-2). ED participants included: 46 with restrictive anorexia (AN-R); 24 with binge-purging type of Anorexia Nervosa (AN-BP); 34 with Bulimia Nervosa (BN) and 34 with Binge Eating Disorder (BED). The sample was split in two groups: participants with binge eating behaviours (BEB), in which were included participants with AN-BP, BN and BED, and participants with restrictive behaviours (AN-R). participants with EDs showed significantly higher AdAS Spectrum total scores than HCs. Moreover, EDs participants showed significantly higher scores on all AdAS Spectrum domains with the exception of Non verbal communication and Hyper-Hypo reactivity to sensory input for AN-BP participants, and Childhood/Adolescence domain for AN-BP and BED participants. Participants with AN-R scored significantly higher than participants with BEB on the AdAS Spectrum total score, and on the Inflexibility and adherence to routine and Restricted interest/rumination AdAS Spectrum domain scores. Significant correlations emerged between the Interpersonal distrust EDI-2 sub-scale and the Non verbal communication and the Restricted interest and rumination AdAS Spectrum domains; as well as between the Social insecurity EDI-2 sub-scale and the Inflexibility and adherence to routine and Restricted interest and rumination

  1. Autism Spectrum Disorder and Amplified Pain.

    LENUS (Irish Health Repository)

    Clarke, Ciaran

    2015-05-01

    Among the core features of ASD, altered sensitivities in all modalities have been accorded increasing importance. Heightened sensitivity to pain and unusual expressions of and reaction to pain have not hitherto been widely recognised as a presenting feature of ASD in general paediatrics. Failure to recognise ASD as a common cause of pain can lead to late diagnosis, inappropriate treatment, distress, and further disability. Two cases are presented which illustrate the late presentation of Autism Spectrum Disorder (Asperger\\'s Syndrome subtype) with chronic unusual pain. Conclusion. Pain in autism can be atypical in its experience and expression and for this reason may go unrecognised by physicians treating chronic pain disorders.

  2. Membranous nephropathy with Neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Li, Xiangling; Wang, YanQiang

    2017-07-01

    Membranous nephropathy (MN) accompanying Neuromyelitis optica spectrum disorders (NMOSD) has rarely been described previously. We recently presented a 45-year-old Chinese male presenting with recurrent lower extremity pitting edema, or eyelid edema, proteinuria and hyperlipidemia. especially intractable hiccup and vomiting, painful tonic spasm (PTS) as the revealing symptom of a demyelinating disorder of central nervous system. The kindey biopsy specimen showed MN stage 2. Serological testing revealed antibodies AQP4, MRI head and spine revealed medulla oblongata and C1-C2 cervical vertebra lesions. Treatment with methylprednisolone, cyclophosphamide, azathioprine resulted in consistent clinical improvement. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Structural MRI in Autism Spectrum Disorder

    OpenAIRE

    Chen, Rong; Jiao, Yun; Herskovits, Edward H.

    2011-01-01

    Magnetic-resonance (MR) examination provides a powerful tool for investigating brain structural changes in children with Autism Spectrum Disorder (ASD). We review recent advances in the understanding of structural-MR correlates of ASD. We summarize findings from studies based on voxel-based morphometry, surface-based morphometry, and tensor-based morphometry, and diffusion-tensor imaging. Finally, we discuss diagnostic models of ASD, based on MR-derived features.

  4. Implicit Learning Abilities Predict Treatment Response in Autism Spectrum Disorders

    Science.gov (United States)

    2015-09-01

    early behavioral interventions are the most effective treatment for Autism Spectrum Disorder (ASD), but almost half of the children do not make...behavioral intervention . 2. KEYWORDS Autism Spectrum Disorder , implicit learning, associative learning, individual differences, functional Magnetic...2 AWARD NUMBER: W81XWH-14-1-0261 TITLE: Implicit Learning Abilities Predict Treatment Response in Autism Spectrum Disorders PRINCIPAL

  5. Resilience in the Face of Adversity: Stories from Adults with Fetal Alcohol Spectrum Disorders

    Science.gov (United States)

    Knorr, Lyndsay; McIntyre, Laureen J.

    2016-01-01

    This study explored the school and life experiences of four adults diagnosed with a fetal alcohol spectrum disorder (FASD) from an urban area in western Canada. Semi-structured interviews provided insight into the lives of these adults, including their experiences with this disorder as it related to their social interactions and peer relationships…

  6. Autism Spectrum Disorder classification, diagnosis and therapy.

    Science.gov (United States)

    Sharma, Samata R; Gonda, Xenia; Tarazi, Frank I

    2018-05-12

    Autism Spectrum Disorder (ASD) refers to a group of neurodevelopmental disorders including autism, Asperger's syndrome (AS) and pervasive developmental disorder-not otherwise specified (PDD-NOS). The new diagnostic criteria of ASD focuses on two core domains: social communication impairment and restricted interests/repetitive behaviors. The prevalence of ASD has been steadily increasing over the past two decades, with current estimates reaching up to 1 in 36 children. Hereditary factors, parental history of psychiatric disorders, pre-term births, and fetal exposure to psychotropic drugs or insecticides have all been linked to higher risk of ASD. Several scales such as the Childhood Autism Rating Scale (CARS), The Autism Spectrum Disorder-Observation for Children (ASD-OC), The Developmental, Dimensional, and Diagnostic Interview (3di), are available to aid in better assessing the behaviors and symptoms associated with ASD. Nearly 75% of ASD patients suffer from comorbid psychiatric illnesses or conditions, which may include attention-deficit hyperactivity disorder (ADHD), anxiety, bipolar disorder, depression, Tourette syndrome, and others. Both pharmacological and non-pharmacological interventions are available for ASD. Pharmacological treatments include psychostimulants, atypical antipsychotics, antidepressants, and alpha-2 adrenergic receptor agonists. These medications provide partial symptomatic relief of core symptoms of ASD or manage the symptoms of comorbid conditions. Non-pharmacological interventions, which show promising evidence in improving social interaction and verbal communication of ASD patients, include music therapy, cognitive behavioral therapy and social behavioral therapy. Hormonal therapies with oxytocyin or vasopressin receptor antagonists have also shown some promise in improving core ASD symptoms. The use of vitamins, herbal remedies and nutritional supplements in conjunction with pharmacological and behavioral treatment appear to have some

  7. Sleep in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder.

    Science.gov (United States)

    Singh, Kanwaljit; Zimmerman, Andrew W

    2015-06-01

    Sleep problems are common in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Sleep problems in these disorders may not only worsen daytime behaviors and core symptoms of ASD and ADHD but also contribute to parental stress levels. Therefore, the presence of sleep problems in ASD and ADHD requires prompt attention and management. This article is presented in 2 sections, one each for ASD and ADHD. First, a detailed literature review about the burden and prevalence of different types of sleep disorders is presented, followed by the pathophysiology and etiology of the sleep problems and evaluation and management of sleep disorders in ASD and ADHD. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Autistic spectrum disorders 2: diagnosis and management.

    Science.gov (United States)

    Jones, Alice; Cork, Christine; Chowdhury, Uttom

    2006-04-01

    As many as six in every 1000 children may be affected by an autistic spectrum disorder. The previous article of this two-part series discussed the distinction between autism, Asperger's syndrome and pervasive developmental disorder, and examined the assessment process. This article looks at potential differential diagnoses that must be considered, as well as conditions associated with autism. Many theories about the causes of autism have been suggested, including the MMR vaccine. Recent research has suggested that there is no link between the vaccine and autism. There is no cure for autism, but intervention and management techniques should be aimed at educating parents and carers about the disorder and behavioural interventions to aid the child's skills development.

  9. [Autism Spectrum Disorder and DSM-5: Spectrum or Cluster?].

    Science.gov (United States)

    Kienle, Xaver; Freiberger, Verena; Greulich, Heide; Blank, Rainer

    2015-01-01

    Within the new DSM-5, the currently differentiated subgroups of "Autistic Disorder" (299.0), "Asperger's Disorder" (299.80) and "Pervasive Developmental Disorder" (299.80) are replaced by the more general "Autism Spectrum Disorder". With regard to a patient-oriented and expedient advising therapy planning, however, the issue of an empirically reproducible and clinically feasible differentiation into subgroups must still be raised. Based on two Autism-rating-scales (ASDS and FSK), an exploratory two-step cluster analysis was conducted with N=103 children (age: 5-18) seen in our social-pediatric health care centre to examine potentially autistic symptoms. In the two-cluster solution of both rating scales, mainly the problems in social communication grouped the children into a cluster "with communication problems" (51 % and 41 %), and a cluster "without communication problems". Within the three-cluster solution of the ASDS, sensory hypersensitivity, cleaving to routines and social-communicative problems generated an "autistic" subgroup (22%). The children of the second cluster ("communication problems", 35%) were only described by social-communicative problems, and the third group did not show any problems (38%). In the three-cluster solution of the FSK, the "autistic cluster" of the two-cluster solution differentiated in a subgroup with mainly social-communicative problems (cluster 1) and a second subgroup described by restrictive, repetitive behavior. The different cluster solutions will be discussed with a view to the new DSM-5 diagnostic criteria, for following studies a further specification of some of the ASDS and FSK items could be helpful.

  10. Fetal alcohol spectrum disorders: experimental treatments and strategies for intervention.

    Science.gov (United States)

    Idrus, Nirelia M; Thomas, Jennifer D

    2011-01-01

    Despite the known damaging effects of prenatal alcohol exposure, women continue to drink during pregnancy, creating a need for effective interventions and treatments for fetal alcohol spectrum disorders (FASD). Experimental models can be useful in identifying potential treatments, and this article describes the spectrum of experimental therapeutics that currently are being investigated, including pharmacological, nutritional, and environmental/behavioral interventions. Some treatments target the underlying mechanisms that contribute to alcohol-induced damage, protecting against alcohol's teratogenic effects, whereas other treatments may enhance central nervous system plasticity either during alcohol exposure or long after alcohol exposure has ceased. The insights gained to date from experimental models offer several candidates for attenuating the deficits associated with FASD.

  11. Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories

    Directory of Open Access Journals (Sweden)

    Roberto Canitano

    2017-05-01

    Full Text Available Autism spectrum disorders (ASD and schizophrenia spectrum disorders (SSD share clinical and genetic components that have long been recognized. The two disorders co-occur more frequently than would be predicted by their respective prevalence, suggesting that a complex, multifactor association is involved. However, DSM-5 maintains the distinction between ASD, with core social and communication impairments, and SSD, including schizophrenia (SCZ, with hallucinations, delusions, and thought disorder as essential features. ASD and SSD have common biological underpinnings that may emerge early in development and unfold over time. One of the hypotheses supporting the similarities in the social and cognitive disturbances of ASD and SSD relates to abnormalities in the ratio of excitatory to inhibitory cortical activity (E/I imbalance. E/I imbalance in neurodevelopmental disorders could be the consequence of abnormalities in genes coding for glutamatergic and GABAergic receptors or synaptic proteins followed by system derangements. SSD and ASD have been characterized as polygenic disorders in which to the onset and progression of disease is triggered by interactions among multiple genes. Mammalian target of rapamycin signaling is under intense investigation as a convergent altered pathway in the two spectrum disorders. Current understanding of shared and divergent patterns between ASD and SSD from molecular to clinical aspects is still incomplete and may be implemented by the research domain criteria approach.

  12. Channelopathy Pathogenesis in Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Galina eSchmunk

    2013-11-01

    Full Text Available Autism spectrum disorder (ASD is a syndrome that affects normal brain development and is characterized by impaired social interaction as well as verbal and non-verbal communication and by repetitive, stereotypic behavior. ASD is a complex disorder arising from a combination of multiple genetic and environmental factors that are independent from racial, ethnic and socioeconomical status. The high heritability of ASD suggests a strong genetic basis for the disorder. Furthermore, a mounting body of evidence implies a role of various ion channel gene defects (channelopathies in the pathogenesis of autism. Indeed, recent genome-wide association, and whole exome- and whole- genome resequencing studies linked polymorphisms and rare variants in calcium, sodium and potassium channels and their subunits with susceptibility to ASD, much as they do with bipolar disorder, schizophrenia and other neuropsychiatric disorders, and animal models with these genetic variations recapitulate endophenotypes considered to be correlates of autistic behavior seen in patients. An ion flux across the membrane regulates a variety of cell functions, from generation of action potentials to gene expression and cell morphology, thus it is not surprising that channelopathies have profound effects on brain functions. In the present work, we summarize existing evidence for the role of ion channel gene defects in the pathogenesis of autism with a focus on calcium signaling and its downstream effects.

  13. Prevalence of Schizophrenia Spectrum Disorders in Average-IQ Adults with Autism Spectrum Disorders: A Meta-Analysis

    Science.gov (United States)

    Lugo Marín, Jorge; Rodríguez-Franco, Montserrat Alviani; Mahtani Chugani, Vinita; Magán Maganto, María; Díez Villoria, Emiliano; Canal Bedia, Ricardo

    2018-01-01

    Since their separation as independent diagnostics, autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD) have been conceptualized as mutually exclusive disorders. Similarities between both disorders can lead to misdiagnosis, especially when it comes to average-IQ adults who were not identified during childhood. The aim of this…

  14. Problem Behavior in Children with Autism Spectrum Disorders

    OpenAIRE

    Šteglová, Dominika

    2012-01-01

    This thesis focuses on problem behavior, its manifestations and causes of origin in children with autism spectrum disorders. The thesis is divided into two parts, the theoretical and empirical. The theoretical part focuses on introduction to issues of autism spectrum disorders and problem behavior. Mentioned here is history and etiology of disorders, also the part deals with autistic triad of disability. Among others I try briefly characterize various autism spectrum disorders focusing on inf...

  15. Cholinergic imaging in dementia spectrum disorders

    International Nuclear Information System (INIS)

    Roy, Roman; Niccolini, Flavia; Pagano, Gennaro; Politis, Marios

    2016-01-01

    The multifaceted nature of the pathology of dementia spectrum disorders has complicated their management and the development of effective treatments. This is despite the fact that they are far from uncommon, with Alzheimer's disease (AD) alone affecting 35 million people worldwide. The cholinergic system has been found to be crucially involved in cognitive function, with cholinergic dysfunction playing a pivotal role in the pathophysiology of dementia. The use of molecular imaging such as SPECT and PET for tagging targets within the cholinergic system has shown promise for elucidating key aspects of underlying pathology in dementia spectrum disorders, including AD or parkinsonian dementias. SPECT and PET studies using selective radioligands for cholinergic markers, such as [ 11 C]MP4A and [ 11 C]PMP PET for acetylcholinesterase (AChE), [ 123 I]5IA SPECT for the α 4 β 2 nicotinic acetylcholine receptor and [ 123 I]IBVM SPECT for the vesicular acetylcholine transporter, have been developed in an attempt to clarify those aspects of the diseases that remain unclear. This has led to a variety of findings, such as cortical AChE being significantly reduced in Parkinson's disease (PD), PD with dementia (PDD) and AD, as well as correlating with certain aspects of cognitive function such as attention and working memory. Thalamic AChE is significantly reduced in progressive supranuclear palsy (PSP) and multiple system atrophy, whilst it is not affected in PD. Some of these findings have brought about suggestions for the improvement of clinical practice, such as the use of a thalamic/cortical AChE ratio to differentiate between PD and PSP, two diseases that could overlap in terms of initial clinical presentation. Here, we review the findings from molecular imaging studies that have investigated the role of the cholinergic system in dementia spectrum disorders. (orig.)

  16. Cholinergic imaging in dementia spectrum disorders

    Energy Technology Data Exchange (ETDEWEB)

    Roy, Roman; Niccolini, Flavia; Pagano, Gennaro; Politis, Marios [Institute of Psychiatry, Psychology and Neuroscience, King' s College London, Neurodegeneration Imaging Group, Department of Basic and Clinical Neuroscience, London (United Kingdom)

    2016-07-15

    The multifaceted nature of the pathology of dementia spectrum disorders has complicated their management and the development of effective treatments. This is despite the fact that they are far from uncommon, with Alzheimer's disease (AD) alone affecting 35 million people worldwide. The cholinergic system has been found to be crucially involved in cognitive function, with cholinergic dysfunction playing a pivotal role in the pathophysiology of dementia. The use of molecular imaging such as SPECT and PET for tagging targets within the cholinergic system has shown promise for elucidating key aspects of underlying pathology in dementia spectrum disorders, including AD or parkinsonian dementias. SPECT and PET studies using selective radioligands for cholinergic markers, such as [{sup 11}C]MP4A and [{sup 11}C]PMP PET for acetylcholinesterase (AChE), [{sup 123}I]5IA SPECT for the α{sub 4}β{sub 2} nicotinic acetylcholine receptor and [{sup 123}I]IBVM SPECT for the vesicular acetylcholine transporter, have been developed in an attempt to clarify those aspects of the diseases that remain unclear. This has led to a variety of findings, such as cortical AChE being significantly reduced in Parkinson's disease (PD), PD with dementia (PDD) and AD, as well as correlating with certain aspects of cognitive function such as attention and working memory. Thalamic AChE is significantly reduced in progressive supranuclear palsy (PSP) and multiple system atrophy, whilst it is not affected in PD. Some of these findings have brought about suggestions for the improvement of clinical practice, such as the use of a thalamic/cortical AChE ratio to differentiate between PD and PSP, two diseases that could overlap in terms of initial clinical presentation. Here, we review the findings from molecular imaging studies that have investigated the role of the cholinergic system in dementia spectrum disorders. (orig.)

  17. Drosophila Studies on Autism Spectrum Disorders

    Institute of Scientific and Technical Information of China (English)

    Yao Tian; Zi Chao Zhang; Junhai Han

    2017-01-01

    In the past decade,numerous genes associated with autism spectrum disorders (ASDs) have been identified.These genes encode key regulators of synaptogenesis,synaptic function,and synaptic plasticity.Drosophila is a prominent model system for ASD studies to define novel genes linked to ASDs and decipher their molecular roles in synaptogenesis,synaptic function,synaptic plasticity,and neural circuit assembly and consolidation.Here,we review Drosophila studies on ASD genes that regulate synaptogenesis,synaptic function,and synaptic plasticity through modulating chromatin remodeling,transcription,protein synthesis and degradation,cytoskeleton dynamics,and synaptic scaffolding.

  18. Language and communication in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Vinogradova K.N.

    2015-06-01

    Full Text Available The present article is a review of English_language literature on the topic of development of language and communication in people with autism spectrum disorders (ASD. It is shown that language in ASD often differs from the one in typical development, particularly in terms of pragmatics, unusual intonation and echolalia, and difficulties in speech perception and comprehension may also be present. Nevertheless, it should be noted that the results of many studies in this area are controversial due to a variety of reasons and it is hardly possible to reach agreement on many questions in this area.

  19. Schizophrenia spectrum and other psychotic disorders

    DEFF Research Database (Denmark)

    Pagsberg, Anne Katrine

    2013-01-01

    The DSM-5 list of diagnoses concerning schizophrenia spectrum and other psychotic disorders is expected to be revised and graduated from mild to severe. The proposed changes for the diagnosis of schizophrenia affect demands for characteristic symptoms, clarify relation to pervasive developmental...... diagnostic reliability and validity, but it is estimated to exclude about 2 % of patients currently diagnosed with DSM-IV schizophrenia from fulfilling criteria for DSM-5 schizophrenia. It might generate a problem for future young patients if the changes concerning demands on characteristic symptoms turn out...

  20. [Pragmatics in autism spectrum disorder: recent developments].

    Science.gov (United States)

    Kissine, Mikhail; Clin, Elise; de Villiers, Jessica

    2016-10-01

    Autism spectrum disorder (ASD) is characterized by primary pragmatic difficulties, out of step with verbal and non-verbal developmental level. This selective survey paper addresses three recent domains of research on pragmatic functions in autism. First, we provide an up-to-date discussion of how lack of sensitivity to social cues impacts early acquisition of words. Second, we review recent findings on the comprehension of non-literal language, pointing to a more refined clinical reality. Third, we describe recent developments in the study of conversation skills in autism. © 2016 médecine/sciences – Inserm.

  1. Auditory processing in autism spectrum disorder

    DEFF Research Database (Denmark)

    Vlaskamp, Chantal; Oranje, Bob; Madsen, Gitte Falcher

    2017-01-01

    Children with autism spectrum disorders (ASD) often show changes in (automatic) auditory processing. Electrophysiology provides a method to study auditory processing, by investigating event-related potentials such as mismatch negativity (MMN) and P3a-amplitude. However, findings on MMN in autism...... a hyper-responsivity at the attentional level. In addition, as similar MMN deficits are found in schizophrenia, these MMN results may explain some of the frequently reported increased risk of children with ASD to develop schizophrenia later in life. Autism Res 2017, 10: 1857–1865....

  2. Gender identity and autism spectrum disorders.

    Science.gov (United States)

    van Schalkwyk, Gerrit I; Klingensmith, Katherine; Volkmar, Fred R

    2015-03-01

    In this review, we briefly summarize much of the existing literature on gender-related concerns and autism spectrum disorders (ASD), drawing attention to critical shortcomings in our current understanding and potential clinical implications. Some authors have concluded that gender identity disorder (GID), or gender dysphoria (GD), is more common in individuals with ASD, providing a range of potential explanations. However, existing literature is quantitatively limited, and our capacity to draw conclusions is further complicated by conceptual challenges regarding how gender identity is best understood. Discourses that emphasize gender as a component of identity formation are gaining prominence and seem particularly salient when applied to ASD. Individuals with ASD should enjoy equal rights with regard to treatment for gender dysphoria. Clinicians may be able to assist individuals in understanding this aspect of their identity by broadening the social frame and facilitating an exploration of gender roles.

  3. Autism Spectrum Disorder and Amplified Pain

    Directory of Open Access Journals (Sweden)

    Ciaran Clarke

    2015-01-01

    Full Text Available Among the core features of ASD, altered sensitivities in all modalities have been accorded increasing importance. Heightened sensitivity to pain and unusual expressions of and reaction to pain have not hitherto been widely recognised as a presenting feature of ASD in general paediatrics. Failure to recognise ASD as a common cause of pain can lead to late diagnosis, inappropriate treatment, distress, and further disability. Two cases are presented which illustrate the late presentation of Autism Spectrum Disorder (Asperger’s Syndrome subtype with chronic unusual pain. Conclusion. Pain in autism can be atypical in its experience and expression and for this reason may go unrecognised by physicians treating chronic pain disorders.

  4. Epigenetic regulation in Autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Sraboni Chaudhury

    2016-12-01

    Full Text Available Autism spectrum disorder (ASD is a neurodevelopmental disorder characterized by an impaired social communication skill and often results in repetitive, stereotyped behavior which is observed in children during the first few years of life. Other characteristic of this disorder includes language disabilities, difficulties in sensory integration, lack of reciprocal interactions and in some cases, cognitive delays. One percentage of the general population is affected by ASD and is four times more common in boys than girls. There are hundreds of genes, which has been identified to be associated with ASD etiology. However it remains difficult to comprehend our understanding in defining the genetic architecture necessary for complete exposition of its pathophysiology. Seeing the complexity of the disease, it is important to adopt a multidisciplinary approach which should not only focus on the “genetics” of autism but also on epigenetics, transcriptomics, immune system disruption and environmental factors that could all impact the pathogenesis of the disease. As environmental factors also play a key role in regulating the trigger of ASD, the role of chromatin remodeling and DNA methylation has started to emerge. Such epigenetic modifications directly link molecular regulatory pathways and environmental factors, which might be able to explain some aspects of complex disorders like ASD. The present review will focus on the role of epigenetic regulation in defining the underlying cause for ASD

  5. Prevalence of Autism Spectrum Disorders: data review

    Directory of Open Access Journals (Sweden)

    Francisco ALCANTUD MARÍN

    2017-10-01

    Full Text Available Published data on the prevalence of autism spectrum disorders point to a significant increase in this indicator. This increase is being studied in numerous publications of analysis, meta-analysis and systematic reviews. The prevalence indicates the proportion of people who suffer at a given time or are diagnosed with a disease. The consequences of the increasing prevalence are relevant from the point of health, social and educational, but especially relevant when as is the case, the cause of the disorder is unknown. It is in this sense that the prevalence study gains importance in order to delimit various circumstances that may give clues to the possible cause or causes that generate disorder. This article reviews studies, summarizes the last data, and reflects on them and possible causes that justify the increased reporting. It looks like these epidemiological indicators can or are influenced by possible methodological flaws behind, which can explain the variations between studies and others. It concludes by stating the need population studies and monitoring that allows us to know the reality of the evolution of these disorders in order to provide reliable information to those responsible for the institutions involved in the detection and treatment of ASD.

  6. Autistic spectrum disorders as functional disconnection syndrome.

    Science.gov (United States)

    Melillo, Robert; Leisman, Gerry

    2009-01-01

    We outline the basis of how functional disconnection with reduced activity and coherence in the right hemisphere would explain all of the symptoms of autistic spectrum disorder as well as the observed increases in sympathetic activation. If the problem of autistic spectrum disorder is primarily one of desynchronization and ineffective interhemispheric communication, then the best way to address the symptoms is to improve coordination between areas of the brain. To do that the best approach would include multimodal therapeusis that would include a combination of somatosensory, cognitive, behavioral, and biochemical interventions all directed at improving overall health, reducing inflammation and increasing right hemisphere activity to the level that it becomes temporally coherent with the left hemisphere. We hypothesize that the unilateral increased hemispheric stimulation has the effect of increasing the temporal oscillations within the thalamocortical pathways bringing it closer to the oscillation rate of the adequately functioning hemisphere. We propose that increasing the baseline oscillation speed of one entire hemisphere will enhance the coordination and coherence between the two hemispheres allowing for enhanced motor and cognitive binding.

  7. Clinical Genetic Aspects of ASD Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    G. Bradley Schaefer

    2016-01-01

    Full Text Available Early presumptions opined that autism spectrum disorder (ASD was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%. To date these investigations have focused on etiologic factors that are largely mono-factorial. The currently undiagnosed causes of ASDs will likely be found to have causes that are more complex. Epigenetic, multiple interacting loci, and four dimensional causes (with timing as a variable are likely to be associated with the currently unidentifiable cases. Today, the “Why” is more important than ever. Understanding the causes of ASDs help inform families of important issues such as recurrence risk, prognosis, natural history, and predicting associated co-morbid medical conditions. In the current era of emerging efforts in “personalized medicine”, identifying an etiology will be critical in identifying endo-phenotypic groups and individual variations that will allow for tailored treatment for persons with ASD.

  8. Living with Autistic Spectrum Disorder: Parental Experiences of Raising a Child with Autistic Spectrum Disorder (ASD)

    Science.gov (United States)

    Glazzard, Jonathan; Overall, Katy

    2012-01-01

    The focus of the study was to explore parental experiences of raising a child with autistic spectrum disorder (ASD). A mixed-method approach consisting of questionnaires and semi-structured interviews was used in order to elicit parental perspectives of raising a child with ASD. Two semi-structured interviews were conducted with parents of…

  9. [Sleep disturbances in children with autistic spectrum disorders].

    Science.gov (United States)

    Kelmanson, I A

    2015-01-01

    An association between sleep disorders and autistic spectrum disorders in children is considered. Characteristic variants of sleep disorders, including resistance to going to bed, frequent night awakenings, parasomnias, changes in sleep structure, primarily, the decrease in the percentage of rapid eye movement sleep, are presented. Attention is focused on the possibility of the direct relationship between sleep disturbance and the pathogenesis of autistic spectrum disorders. A role of pathological alterations in the production of neuromediators and morphological changes in the brain structures characteristic of autistic spectrum disorders in the genesis of sleep disorders in children is discussed. Possible non-pharmacological and pharmacological approaches are suggested.

  10. Sleep, chronotype, and sleep hygiene in children with attention-deficit/hyperactivity disorder, autism spectrum disorder, and controls

    NARCIS (Netherlands)

    Van, der Heijden K.B.; Stoffelsen, R.J.; Popma, A.; Swaab, J.T.

    2018-01-01

    Sleep problems are highly prevalent in ADHD and autism spectrum disorder (ASD). Better insight in the etiology is of clinical importance since intervention and prevention strategies of sleep problems are directed at underlying mechanisms. We evaluated the association of sleep problems and sleep

  11. Maternal Brain-Reactive Antibodies and Autism Spectrum Disorder

    Science.gov (United States)

    2015-10-01

    AWARD NUMBER: W81XWH-14-1-0369 TITLE: Maternal Brain-Reactive Antibodies and Autism Spectrum Disorder PRINCIPAL INVESTIGATOR: Betty Diamond...Sep 2015 4. TITLE AND SUBTITLE Maternal Brain-Reactive Antibodies and Autism Spectrum 5a. CONTRACT NUMBER Disorder 5b. GRANT NUMBER W81XWH-14-1...to approximately 5% of cases of ASD. 15. SUBJECT TERMS Fetal brain; Autism spectrum disorder ; antibody; B cells; Caspr2 16. SECURITY CLASSIFICATION

  12. The Changing Epidemiology of Autism Spectrum Disorders.

    Science.gov (United States)

    Lyall, Kristen; Croen, Lisa; Daniels, Julie; Fallin, M Daniele; Ladd-Acosta, Christine; Lee, Brian K; Park, Bo Y; Snyder, Nathaniel W; Schendel, Diana; Volk, Heather; Windham, Gayle C; Newschaffer, Craig

    2017-03-20

    Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations and gained footing in the areas of polygenic risk, epigenetics, and gene-by-environment interaction. Epidemiologic investigations focused on nongenetic factors have established advanced parental age and preterm birth as ASD risk factors, indicated that prenatal exposure to air pollution and short interpregnancy interval are potential risk factors, and suggested the need for further exploration of certain prenatal nutrients, metabolic conditions, and exposure to endocrine-disrupting chemicals. We discuss future challenges and goals for ASD epidemiology as well as public health implications.

  13. Object interest in autism spectrum disorder

    Science.gov (United States)

    MCDUFFIE, ANDREA S.; LIEBERMAN, REBECCA G.; YODER, PAUL J.

    2014-01-01

    A randomized control trial comparing two social communication treatments for children with autism spectrum disorder examined the effect of treatment on object interest. Thirty-two children, 18–60 months, were randomly assigned to the Picture Exchange Communication System (PECS) or Responsive Education and Prelinguistic Milieu Teaching (RPMT) condition. Assessment of object interest was conducted in an unstructured play session with different toys, activities, adult, and location than experienced in treatment. Results indicated children in the RPMT condition showed greater increases in object interest as compared to children in the PECS condition. Because child characteristics such as interest in objects may influence response to interventions using object play as contexts for treatment, it is important to improve our understanding of whether intervention can affect object interest. PMID:22133872

  14. Public awareness of autism spectrum disorder.

    Science.gov (United States)

    Alsehemi, Matar A; Abousaadah, Mahmoud M; Sairafi, Razan A; Jan, Mohammed M

    2017-07-01

    Examine the awareness of autism spectrum disorders (ASD) in our community which would help in early recognition and improved support of affected families. A focused 20-item questionnaire was designed to survey the public awareness and knowledge of ASD. Personal interviews were conducted during an ASD awareness day, which was organized in a major shopping mall on February 20, 2015 in Jeddah, Kingdom of Saudi Arabia. A total of 259 individuals participated in the study with 47% being 30 years of age). Females were more likely to think that autistic children can be employed in the future (p=0.008), whereas males were more likely to think that autism is similar to mental retardation (p=0.005). The public awareness of ASD needs improvement. Areas for targeted education were identified to help improve the quality of life of autistic children and their families.

  15. Reinforcement Learning in Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Manuela Schuetze

    2017-11-01

    Full Text Available Early behavioral interventions are recognized as integral to standard care in autism spectrum disorder (ASD, and often focus on reinforcing desired behaviors (e.g., eye contact and reducing the presence of atypical behaviors (e.g., echoing others' phrases. However, efficacy of these programs is mixed. Reinforcement learning relies on neurocircuitry that has been reported to be atypical in ASD: prefrontal-sub-cortical circuits, amygdala, brainstem, and cerebellum. Thus, early behavioral interventions rely on neurocircuitry that may function atypically in at least a subset of individuals with ASD. Recent work has investigated physiological, behavioral, and neural responses to reinforcers to uncover differences in motivation and learning in ASD. We will synthesize this work to identify promising avenues for future research that ultimately can be used to enhance the efficacy of early intervention.

  16. Pharmacological Therapies for Autism Spectrum Disorder: A Review

    OpenAIRE

    LeClerc, Sheena; Easley, Deidra

    2015-01-01

    Medications are often added to behavioral therapy to help patients with autism spectrum disorder function successfully. This review discusses approved and off-label pharmacotherapeutic options for the various symptoms of the disorder.

  17. Macrophage migration inhibitory factor and autism spectrum disorders

    NARCIS (Netherlands)

    Grigorenko, Elena L.; Han, Summer S.; Yrigollen, Carolyn M.; Leng, Lin; Mizue, Yuka; Anderson, George M.; Mulder, Erik J.; de Bildt, Annelies; Minderaa, Ruud B.; Volkmar, Fred R.; Chang, Joseph T.; Bucala, Richard

    OBJECTIVE. Autistic spectrum disorders are childhood neurodevelopmental disorders characterized by social and communicative impairment and repetitive and stereotypical behavior. Macrophage migration inhibitory factor (MIF) is an upstream regulator of innate immunity that promotes

  18. [Asperger's syndrome: continuum or spectrum of autistic disorders?].

    Science.gov (United States)

    Bryńska, Anita

    2011-01-01

    Pervasive Developmental Disorders (PPD) refers to the group of disorders characterised by delayed or inappropriate development of multiple basic functions including socialisation, communication, behaviour and cognitive functioning. The term,,autistic spectrum disorders" was established as a result of the magnitude of the intensity of symptoms and their proportions observed in all types of pervasive developmental disorders. Asperger's Syndrome (AS) remains the most controversial diagnosis in terms of its place within autism spectrum disorders. AS if often described as an equivalent of High Functioning Autism (HFA) or as a separate spectrum-related disorder with unique diagnostic criteria. Another important issue is the relationship between AS and speech disorders. Although it is relatively easy to draw a line between children with classical autism and speech disorders, the clear cut frontiers between them still remain to be found. The main distinguishing feature is the lack of stereotypic interests and unimpaired social interaction observed in children with speech disorders, such as semantic-pragmatic disorder.

  19. MRI characteristics of neuromyelitis optica spectrum disorder

    Science.gov (United States)

    Paul, Friedemann; Lana-Peixoto, Marco A.; Tenembaum, Silvia; Asgari, Nasrin; Palace, Jacqueline; Klawiter, Eric C.; Sato, Douglas K.; de Seze, Jérôme; Wuerfel, Jens; Banwell, Brenda L.; Villoslada, Pablo; Saiz, Albert; Fujihara, Kazuo; Kim, Su-Hyun

    2015-01-01

    Since its initial reports in the 19th century, neuromyelitis optica (NMO) had been thought to involve only the optic nerves and spinal cord. However, the discovery of highly specific anti–aquaporin-4 antibody diagnostic biomarker for NMO enabled recognition of more diverse clinical spectrum of manifestations. Brain MRI abnormalities in patients seropositive for anti–aquaporin-4 antibody are common and some may be relatively unique by virtue of localization and configuration. Some seropositive patients present with brain involvement during their first attack and/or continue to relapse in the same location without optic nerve and spinal cord involvement. Thus, characteristics of brain abnormalities in such patients have become of increased interest. In this regard, MRI has an increasingly important role in the differential diagnosis of NMO and its spectrum disorder (NMOSD), particularly from multiple sclerosis. Differentiating these conditions is of prime importance because early initiation of effective immunosuppressive therapy is the key to preventing attack-related disability in NMOSD, whereas some disease-modifying drugs for multiple sclerosis may exacerbate the disease. Therefore, identifying the MRI features suggestive of NMOSD has diagnostic and prognostic implications. We herein review the brain, optic nerve, and spinal cord MRI findings of NMOSD. PMID:25695963

  20. Fetal phenotypes in otopalatodigital spectrum disorders.

    Science.gov (United States)

    Naudion, S; Moutton, S; Coupry, I; Sole, G; Deforges, J; Guerineau, E; Hubert, C; Deves, S; Pilliod, J; Rooryck, C; Abel, C; Le Breton, F; Collardeau-Frachon, S; Cordier, M P; Delezoide, A L; Goldenberg, A; Loget, P; Melki, J; Odent, S; Patrier, S; Verloes, A; Viot, G; Blesson, S; Bessières, B; Lacombe, D; Arveiler, B; Goizet, C; Fergelot, P

    2016-03-01

    Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra-skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD and in whom we performed FLNA analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA mutational spectrum in OPDSD. However, we emphasize difficulties to correctly discriminate OPDSD based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA mutations. Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Prenatal neurogenesis in autism spectrum disorders

    Science.gov (United States)

    Kaushik, Gaurav; Zarbalis, Konstantinos

    2016-03-01

    An ever-increasing body of literature describes compelling evidence that a subset of young children on the autism spectrum show abnormal cerebral growth trajectories. In these cases, normal cerebral size at birth is followed by a period of abnormal growth and starting in late childhood often by regression compared to unaffected controls. Recent work has demonstrated an abnormal increase in the number of neurons of the prefrontal cortex suggesting that cerebral size increase in autism is driven by excess neuronal production. In addition, some affected children display patches of abnormal laminar positioning of cortical projection neurons. As both cortical projection neuron numbers and their correct layering within the developing cortex requires the undisturbed proliferation of neural progenitors, it appears that neural progenitors lie in the center of the autism pathology associated with early brain overgrowth. Consequently, autism spectrum disorders associated with cerebral enlargement should be viewed as birth defects of an early embryonic origin with profound implications for their early diagnosis, preventive strategies, and therapeutic intervention.

  2. Differential diagnosis of neuromyelitis optica spectrum disorders

    Science.gov (United States)

    Kim, Sung-Min; Kim, Seong-Joon; Lee, Haeng Jin; Kuroda, Hiroshi; Palace, Jacqueline; Fujihara, Kazuo

    2017-01-01

    Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disorder of the central nervous system (CNS) mostly manifesting as optic neuritis and/or myelitis, which are frequently recurrent/bilateral or longitudinally extensive, respectively. As the autoantibody to aquaporin-4 (AQP4-Ab) can mediate the pathogenesis of NMOSD, testing for the AQP4-Ab in serum of patients can play a crucial role in diagnosing NMOSD. Nevertheless, the differential diagnosis of NMOSD in clinical practice is often challenging despite the phenotypical and serological characteristics of the disease because: (1) diverse diseases with autoimmune, vascular, infectious, or neoplastic etiologies can mimic these phenotypes of NMOSD; (2) patients with NMOSD may only have limited clinical manifestations, especially in their early disease stages; (3) test results for AQP4-Ab can be affected by several factors such as assay methods, serologic status, disease stages, or types of treatment; (4) some patients with NMOSD do not have AQP4-Ab; and (5) test results for the AQP4-Ab may not be readily available for the acute management of patients. Despite some similarity in their phenotypes, these NMOSD and NMOSD-mimics are distinct from each other in their pathogenesis, prognosis, and most importantly treatment. Understanding the detailed clinical, serological, radiological, and prognostic differences of these diseases will improve the proper management as well as diagnosis of patients. PMID:28670343

  3. Abnormal infant neurodevelopment predicts schizophrenia spectrum disorders.

    Science.gov (United States)

    Fish, Barbara; Kendler, Kenneth S

    2005-06-01

    The aim of this study was to detect infants who carry a schizophrenic genotype and study the development of schizophrenia spectrum disorders (SZSD) from birth. In the 1940s, Bender described uneven maturation in childhood schizophrenics and in 1952 found this in the infant histories of 6 schizophrenic children. We tested a possible index for defective neural integration in infants termed "pandysmaturation" (PDM). This required retarded cranial growth plus retarded and erratic gross motor development on a single exam. Twelve offspring of hospitalized schizophrenic mothers and 12 infants in a "Well Baby Clinic," were examined 10 times between birth and 2 years of age. Psychiatric interviews and psychological testing were done at 10, 15, and 22 years of age, plus follow-up at 27-35 years of age. Six infants had PDM at 2, 6, or 13 months of age. Five individuals have been blindly diagnosed (by KSK) as having lifetime SZSD; all 5 had PDM before 8 months. Chi-square one-tailed tests confirmed the predictions: (1) PDM was related to subsequent SZSD (chi(2) = 11.43; p < 0.0005); (2) schizophrenic mothers had more infants with PDM than nonschizophrenic mothers (chi(2) = 3.28; p < 0.05); and (3) schizophrenic mothers had more SZSD offspring than nonschizophrenic mothers (chi(2) = 6.39; p < 0.0125). These first behavioral observations of aberrant neurodevelopment in pre- SZSD infants support the evidence of early neurodevelopmental disorder seen in studies of brain pathology in SZSD adults.

  4. Mirror neuron dysfunction in autism spectrum disorders.

    Science.gov (United States)

    Perkins, Tom; Stokes, Mark; McGillivray, Jane; Bittar, Richard

    2010-10-01

    Autism spectrum disorders (ASDs) are developmental conditions characterized by deficits in social interaction, verbal and nonverbal communication and obsessive/stereotyped patterns of behaviour. Although there is no reliable neurophysiological marker associated with ASDs, dysfunction of the parieto-frontal mirror neuron system has been suggested as a disturbance linked to the disorder. Mirror neurons (MNs) are visuomotor neurons which discharge both when performing and observing a goal directed action. Research suggests MNs may have a role in imitation, empathy, theory of mind and language. Although the research base is small, evidence from functional MRI, transcranial magnetic stimulation, and an electroencephalographic component called the mu rhythm suggests MNs are dysfunctional in subjects with ASD. These deficits are more pronounced when ASD subjects complete tasks with social relevance, or that are emotional in nature. Promising research has identified that interventions targeting MN related functions such as imitation can improve social functioning in ASDs. Boosting the function of MNs may improve the prognosis of ASDs, and contribute to diagnostic clarity. Copyright 2010 Elsevier Ltd. All rights reserved.

  5. [Concordances between autism spectrum disorders and attention deficit hyperactivity disorder].

    Science.gov (United States)

    Mulas, F; Roca, P

    2018-03-01

    The current literature acknowledges an overlap of genetic, clinical and neuropsychological aspects between autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), suggesting that there may be a common pattern that covers features ranging from the common genetic and structural aetiology to shared patterns of symptoms. To review the current advances in these common aspects. Several studies have pointed out preschool attentional difficulties as the basis of both disorders. From the genetic perspective, it is estimated that 50-72% of the genetic factors overlap between the two disorders. They also share a decrease in the volume of the corpus callosum and left frontal grey matter, as well as functional alterations such as dorsolateral prefrontal, striato-thalamic and superior parietal hypoactivation. Results are also found regarding executive functioning, with differential profiles for the two conditions, and also concerning the relationship between the repetitive and impulsive behaviours in the early stages of ASD and ensuing problems of hyperactivity. This new conception of the ASD-ADHD continuum, with a common neurodevelopmental basis and associated clinical features, could be of great use in clinical practice. It is suggested that this association should be taken into account when it comes to deciding on the treatment.

  6. Epigenetic mechanisms: A possible link between autism spectrum disorders and fetal alcohol spectrum disorders.

    Science.gov (United States)

    Varadinova, Miroslava; Boyadjieva, Nadka

    2015-12-01

    The etiology of autism spectrum disorders (ASDs) still remains unclear and seems to involve a considerable overlap between polygenic, epigenetic and environmental factors. We have summarized the current understanding of the interplay between gene expression dysregulation via epigenetic modifications and the potential epigenetic impact of environmental factors in neurodevelopmental deficits. Furthermore, we discuss the scientific controversies of the relationship between prenatal exposure to alcohol and alcohol-induced epigenetic dysregulations, and gene expression alterations which are associated with disrupted neural plasticity and causal pathways for ASDs. The review of the literature suggests that a better understanding of developmental epigenetics should contribute to furthering our comprehension of the etiology and pathogenesis of ASDs and fetal alcohol spectrum disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  7. Strengths Classification of Social Relationships among Cybermothers Raising Children with Autism Spectrum Disorders

    Science.gov (United States)

    Zeman, Laura Dreuth; Swanke, Jayme; Doktor, Judy

    2011-01-01

    Children with Autism Spectrum Disorders (ASD) and their families are different. Parents often surf the Internet in search of supportive solutions to the unique challenges they face. One source of insight for parents raising children with ASD comes from blog writers and the parents who surf the net to read their blogs, or cyberparents. The study…

  8. Comorbid Psychiatric Diagnoses in Preschoolers with Autism Spectrum Disorders

    Science.gov (United States)

    Hayashida, Kristen; Anderson, Bryan; Paparella, Tanya; Freeman, Stephanny F. N.; Forness, Steven R.

    2010-01-01

    Although comorbid or co-occurring psychiatric diagnoses such as attention deficit hyperactivity disorder, anxiety disorders, depression, and oppositional defiant or conduct disorders have been well studied in children or adolescents with autism spectrum disorders (ASDs), very little research is available on preschool samples. The current study…

  9. [Brain imaging in autism spectrum disorders. A review].

    Science.gov (United States)

    Dziobek, I; Köhne, S

    2011-05-01

    In the past two decades, an increasing number of functional and structural brain imaging studies has provided insights into the neurobiological basis of autism spectrum disorders (ASD). This article summarizes pertinent functional brain imaging studies addressing the neuronal underpinnings of ASD symptomatology (impairments in social interaction and communication, repetitive and restrictive behavior) and associated neuropsychological deficits (theory of mind, executive functions, central coherence), complemented by relevant structural imaging findings. The results of these studies show that although cognitive functions in ASD are generally mediated by the same brain regions as in typically developed individuals, the degree and especially the patterns of brain activation often differ. Therefore, a hypothesis of aberrant network connectivity has increasingly been favored over one of focal brain dysfunction.

  10. Interactive social neuroscience to study autism spectrum disorder.

    Science.gov (United States)

    Rolison, Max J; Naples, Adam J; McPartland, James C

    2015-03-01

    Individuals with autism spectrum disorder (ASD) demonstrate difficulty with social interactions and relationships, but the neural mechanisms underlying these difficulties remain largely unknown. While social difficulties in ASD are most apparent in the context of interactions with other people, most neuroscience research investigating ASD have provided limited insight into the complex dynamics of these interactions. The development of novel, innovative "interactive social neuroscience" methods to study the brain in contexts with two interacting humans is a necessary advance for ASD research. Studies applying an interactive neuroscience approach to study two brains engaging with one another have revealed significant differences in neural processes during interaction compared to observation in brain regions that are implicated in the neuropathology of ASD. Interactive social neuroscience methods are crucial in clarifying the mechanisms underlying the social and communication deficits that characterize ASD.

  11. Visual attention shifting in autism spectrum disorders.

    Science.gov (United States)

    Richard, Annette E; Lajiness-O'Neill, Renee

    2015-01-01

    Abnormal visual attention has been frequently observed in autism spectrum disorders (ASD). Abnormal shifting of visual attention is related to abnormal development of social cognition and has been identified as a key neuropsychological finding in ASD. Better characterizing attention shifting in ASD and its relationship with social functioning may help to identify new targets for intervention and improving social communication in these disorders. Thus, the current study investigated deficits in attention shifting in ASD as well as relationships between attention shifting and social communication in ASD and neurotypicals (NT). To investigate deficits in visual attention shifting in ASD, 20 ASD and 20 age- and gender-matched NT completed visual search (VS) and Navon tasks with attention-shifting demands as well as a set-shifting task. VS was a feature search task with targets defined in one of two dimensions; Navon required identification of a target letter presented at the global or local level. Psychomotor and processing speed were entered as covariates. Relationships between visual attention shifting, set shifting, and social functioning were also examined. ASD and NT showed comparable costs of shifting attention. However, psychomotor and processing speed were slower in ASD than in NT, and psychomotor and processing speed were positively correlated with attention-shifting costs on Navon and VS, respectively, for both groups. Attention shifting on VS and Navon were correlated among NT, while attention shifting on Navon was correlated with set shifting among ASD. Attention-shifting costs on Navon were positively correlated with restricted and repetitive behaviors among ASD. Relationships between attention shifting and psychomotor and processing speed, as well as relationships between measures of different aspects of visual attention shifting, suggest inefficient top-down influences over preattentive visual processing in ASD. Inefficient attention shifting may be

  12. A Dopamine Hypothesis of Autism Spectrum Disorder.

    Science.gov (United States)

    Pavăl, Denis

    2017-01-01

    Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by social deficits and stereotyped behaviors. While several theories have emerged, the pathogenesis of ASD remains unknown. Although studies report dopamine signaling abnormalities in autistic patients, a coherent dopamine hypothesis which could link neurobiology to behavior in ASD is currently lacking. In this paper, we present such a hypothesis by proposing that autistic behavior arises from dysfunctions in the midbrain dopaminergic system. We hypothesize that a dysfunction of the mesocorticolimbic circuit leads to social deficits, while a dysfunction of the nigrostriatal circuit leads to stereotyped behaviors. Furthermore, we discuss 2 key predictions of our hypothesis, with emphasis on clinical and therapeutic aspects. First, we argue that dopaminergic dysfunctions in the same circuits should associate with autistic-like behavior in nonautistic subjects. Concerning this, we discuss the case of PANDAS (pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections) which displays behaviors similar to those of ASD, presumed to arise from dopaminergic dysfunctions. Second, we argue that providing dopamine modulators to autistic subjects should lead to a behavioral improvement. Regarding this, we present clinical studies of dopamine antagonists which seem to have improving effects on autistic behavior. Furthermore, we explore the means of testing our hypothesis by using neuroreceptor imaging, which could provide comprehensive evidence for dopamine signaling dysfunctions in autistic subjects. Lastly, we discuss the limitations of our hypothesis. Along these lines, we aim to provide a dopaminergic model of ASD which might lead to a better understanding of the ASD pathogenesis. © 2017 S. Karger AG, Basel.

  13. Precursors to the Development of Anxiety Disorders in Young Children with Autism Spectrum Disorder

    Science.gov (United States)

    2017-12-01

    children -autism- spectrum-disorder C. Technologies or techniques Nothing to Report D. Inventions, patent applications, and/or licenses Nothing to Report...AWARD NUMBER: W81XWH-14-1-0526 TITLE: Precursors to the Development of Anxiety Disorders in Young Children with Autism Spectrum Disorder...TITLE AND SUBTITLE Precursors to the Development of Anxiety Disorders in Young Children with Autism Spectrum Disorder 5a. CONTRACT NUMBER 5b

  14. Pediatric epilepsy and comorbid reading disorders, math disorders, or autism spectrum disorders: Impact of epilepsy on cognitive patterns

    NARCIS (Netherlands)

    van Iterson, L.; de Jong, P.F.; Zijlstra, B.J.H.

    2015-01-01

    Introduction: In pediatric epilepsy, comorbidities are reported to be frequent. The present study focusedon the cognitive patterns of children with isolated epilepsy, children with isolated neurodevelopmental disorders (reading disorders, math disorders, autism spectrum disorders), and children with

  15. Priorities for Autism Spectrum Disorder Risk Communication and Ethics

    Science.gov (United States)

    Yudell, Michael; Tabor, Holly K.; Dawson, Geraldine; Rossi, John; Newschaffer, Craig

    2013-01-01

    Autism spectrum disorders are an issue of increasing public health significance. The incidence of autism spectrum disorders has been increasing in recent years, and they are associated with significant personal and financial impacts for affected persons and their families. In recent years, a large number of scientific studies have been undertaken,…

  16. Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

    Science.gov (United States)

    Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye

    2017-01-01

    Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

  17. Frontal networks in adults with autism spectrum disorder

    NARCIS (Netherlands)

    Catani, Marco; Dell'Acqua, Flavio; Budisavljevic, Sanja; Howells, Henrietta; Thiebaut De Schotten, Michel; Froudist-Walsh, Seán; D'Anna, Lucio; Thompson, Abigail; Sandrone, Stefano; Bullmore, Edward T.; Suckling, John; Baron-Cohen, Simon; Lombardo, Michael V.; Wheelwright, Sally J.; Chakrabarti, Bhismadev; Lai, Meng Chuan; Ruigrok, Amber N V; Leemans, Alexander; Ecker, Christine; Craig, Michael C.; Murphy, Declan G M; Bailey, Anthony J.; Bolton, Patrick F.; Carrington, Sarah; Daly, Eileen M.; Deoni, Sean C.; Happé, Francesca; Henty, Julian; Jezzard, Peter; Johnston, Patrick; Jones, Derek K.; Madden, Anya; Mullins, Diane; Murphy, Clodagh M.; Murphy, Declan G M; Pasco, Greg; Ruigrok, Amber N V; Sadek, Susan A.; Spain, Debbie; Stewart, Rose; Williams, Steven C.

    2015-01-01

    It has been postulated that autism spectrum disorder is underpinned by an 'atypical connectivity' involving higher-order association brain regions. To test this hypothesis in a large cohort of adults with autism spectrum disorder we compared the white matter networks of 61 adult males with autism

  18. Desired Outcomes for Children and Adolescents with Autistic Spectrum Disorders

    Science.gov (United States)

    Beresford, Bryony; Tozer, Rosemary; Rabiee, Parvaneh; Sloper, Patricia

    2007-01-01

    Within children's services, frameworks for assessing outcomes have been developed in the absence of consultation with children with autistic spectrum disorders and their parents. The research reported here worked with parents, other key adults and children with autistic spectrum disorders to identify desired outcomes. It found similarities with…

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

    Science.gov (United States)

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

    2014-01-01

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

  20. Priorities for autism spectrum disorder risk communication and ethics.

    Science.gov (United States)

    Yudell, Michael; Tabor, Holly K; Dawson, Geraldine; Rossi, John; Newschaffer, Craig

    2013-11-01

    Autism spectrum disorders are an issue of increasing public health significance. The incidence of autism spectrum disorders has been increasing in recent years, and they are associated with significant personal and financial impacts for affected persons and their families. In recent years, a large number of scientific studies have been undertaken, which investigate genetic and environmental risk factors for autism, with more studies underway. At present, much remains unknown regarding autism spectrum disorder risk factors, but the emerging picture of causation is in many cases complex, with multiple genes and gene-environment interactions being at play. The complexity and uncertainty surrounding autism spectrum disorder risk factors raise a number of questions regarding the ethical considerations that should be taken into account when undertaking autism spectrum disorder risk communication. At present, however, little has been written regarding autism spectrum disorder risk communication and ethics. This article summarizes the findings of a recent conference investigating ethical considerations and policy recommendations in autism spectrum disorder risk communication, which to the authors' knowledge is the first of its kind. Here, the authors discuss a number of issues, including uncertainty; comprehension; inadvertent harm; justice; and the appropriate roles of clinicians, scientists, and the media in autism spectrum disorder risk communication.

  1. Quantifying the use of gestures in Autism Spectrum Disorder

    DEFF Research Database (Denmark)

    Lambrechts, Anna; Yarrow, Kielan; Maras, Katie

    Background: Autism Spectrum Disorder (ASD) is characterized by difficulties in communication and social interaction. In the absence of a biomarker, a diagnosis of Autism Spectrum Disorder (ASD) is reached in settings such as the ADOS (Lord et al., 2000) by observing disturbances of social...

  2. Children with Autism Spectrum Disorder Have an Exceptional Explanatory Drive

    Science.gov (United States)

    Rutherford, M. D.; Subiaul, Francys

    2016-01-01

    An "explanatory drive" motivates children to explain ambiguity. Individuals with autism spectrum disorders are interested in how systems work, but it is unknown whether they have an explanatory drive. We presented children with and without autism spectrum disorder unsolvable problems in a physical and in a social context and evaluated…

  3. Gender identity and sexual orientation in autism spectrum disorder.

    Science.gov (United States)

    George, Rita; Stokes, Mark A

    2017-09-01

    Clinical impressions indicate that there is an overrepresentation of gender-dysphoria within the autism spectrum disorder. However, little is presently known about the demographics of gender-identity issues in autism spectrum disorder. Based upon what little is known, we hypothesized that there would be an increased prevalence of gender-dysphoria among those with autism spectrum disorder compared to a typically developing population. We surveyed gender-dysphoria with the Gender-Identity/Gender-Dysphoria Questionnaire among 90 males and 219 females with autism spectrum disorder and compared these rates to those of 103 males and 158 females without autism spectrum disorder. When compared to typically developing individuals, autistic individuals reported a higher number of gender-dysphoric traits. Rates of gender-dysphoria in the group with autism spectrum disorder were significantly higher than reported in the wider population. Mediation analysis found that the relationship between autistic traits and sexual orientation was mediated by gender-dysphoric traits. Results suggest that autism spectrum disorder presents a unique experience to the formation and consolidation of gender identity, and for some autistic individuals, their sexual orientation relates to their gender experience. It is important that clinicians working with autism spectrum disorder are aware of the gender-diversity in this population so that the necessary support for healthy socio-sexual functioning and mental well-being is provided.

  4. No Evidence of Reaction Time Slowing in Autism Spectrum Disorder

    Science.gov (United States)

    Ferraro, F. Richard

    2016-01-01

    A total of 32 studies comprising 238 simple reaction time and choice reaction time conditions were examined in individuals with autism spectrum disorder (n?=?964) and controls (n?=?1032). A Brinley plot/multiple regression analysis was performed on mean reaction times, regressing autism spectrum disorder performance onto the control performance as…

  5. Classroom Needs of Community College Students with Asperger's Disorder and Autism Spectrum Disorders

    Science.gov (United States)

    Gobbo, Ken; Shmulsky, Solvegi

    2012-01-01

    Community college students with Asperger's Disorder and Autism Spectrum Disorders can experience significant challenges from the social aspect of classroom learning and college life in comparison to their peers. This article explains unique challenges of postsecondary learners with Asperger's Disorder and Autism Spectrum Disorders. It also…

  6. Autism Spectrum Disorder and intact executive functioning.

    Science.gov (United States)

    Ferrara, R; Ansermet, F; Massoni, F; Petrone, L; Onofri, E; Ricci, P; Archer, T; Ricci, S

    2016-01-01

    Earliest notions concerning autism (Autism Spectrum Disorders, ASD) describe the disturbance in executive functioning. Despite altered definition, executive functioning, expressed as higher cognitive skills required complex behaviors linked to the prefrontal cortex, are defective in autism. Specific difficulties in children presenting autism or verbal disabilities at executive functioning levels have been identified. Nevertheless, the developmental deficit of executive functioning in autism is highly diversified with huge individual variation and may even be absent. The aim of the present study to examine the current standing of intact executive functioning intact in ASD. Analysis of ASD populations, whether high-functioning, Asperger's or autism Broad Phenotype, studied over a range of executive functions including response inhibition, planning, cognitive flexibility, cognitive inhibition, and alerting networks indicates an absence of damage/impairment compared to the typically-developed normal control subjects. These findings of intact executive functioning in ASD subjects provide a strong foundation on which to construct applications for growth environments and the rehabilitation of autistic subjects.

  7. Brain Abnormalities in Neuromyelitis Optica Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Woojun Kim

    2012-01-01

    Full Text Available Neuromyelitis optica (NMO is an idiopathic inflammatory syndrome of the central nervous system that is characterized by severe attacks of optic neuritis (ON and myelitis. Until recently, NMO was considered a disease without brain involvement. However, since the discovery of NMO-IgG/antiaqaporin-4 antibody, the concept of NMO was broadened to NMO spectrum disorder (NMOSD, and brain lesions are commonly recognized. Furthermore, some patients present with brain symptoms as their first manifestation and develop recurrent brain symptoms without ON or myelitis. Brain lesions with characteristic locations and configurations can be helpful in the diagnosis of NMOSD. Due to the growing recognition of brain abnormalities in NMOSD, these have been included in the NMO and NMOSD diagnostic criteria or guidelines. Recent technical developments such as diffusion tensor imaging, MR spectroscopy, and voxel-based morphometry reveal new findings related to brain abnormalities in NMOSD that were not identified using conventional MRI. This paper focuses on the incidence and characteristics of the brain lesions found in NMOSD and the symptoms that they cause. Recent studies using advanced imaging techniques are also introduced.

  8. Reward system dysfunction in autism spectrum disorders

    Science.gov (United States)

    Schulte-Rüther, Martin; Nehrkorn, Barbara; Müller, Kristin; Fink, Gereon R.; Kamp-Becker, Inge; Herpertz-Dahlmann, Beate; Schultz, Robert T.; Konrad, Kerstin

    2013-01-01

    Although it has been suggested that social deficits of autism spectrum disorders (ASDs) are related to reward circuitry dysfunction, very little is known about the neural reward mechanisms in ASD. In the current functional magnetic resonance imaging study, we investigated brain activations in response to both social and monetary reward in a group of children with ASD, relative to matched controls. Participants with ASD showed the expected hypoactivation in the mesocorticolimbic circuitry in response to both reward types. In particular, diminished activation in the nucleus accumbens was observed when money, but not when social reward, was at stake, whereas the amygdala and anterior cingulate cortex were hypoactivated within the ASD group in response to both rewards. These data indicate that the reward circuitry is compromised in ASD in social as well as in non-social, i.e. monetary conditions, which likely contributes to atypical motivated behaviour. Taken together, with incentives used in this study sample, there is evidence for a general reward dysfunction in ASD. However, more ecologically valid social reward paradigms are needed to fully understand, whether there is any domain specificity to the reward deficit that appears evident in ASD, which would be most consistent with the ASD social phenotype. PMID:22419119

  9. Color Vision Losses in Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Elaine C. Zachi

    2017-06-01

    Full Text Available Autism spectrum disorders (ASDs are neurodevelopmental conditions characterized by impairments in social/communication abilities and restricted behaviors. The present study aims to examine color vision discrimination in ASD children and adolescents without intellectual disability. The participants were also subdivided in order to compare color vision thresholds of autistic participants and those who achieved diagnostic criteria for Asperger Syndrome (AS. Nine subjects with autism, 11 participants with AS and 36 typically developing children and adolescents participated in the study. Color vision was assessed by the Cambridge Color Test (CCT. The Trivector protocol was administered to determine color discrimination thresholds along the protan, deutan, and tritan color confusion lines. Data from ASD participants were compared to tolerance limits for 90% of the population with 90% probability obtained from controls thresholds. Of the 20 ASD individuals examined, 6 (30% showed color vision losses. Elevated color discrimination thresholds were found in 3/9 participants with autism and in 3/11 AS participants. Diffuse and tritan deficits were found. Mechanisms for chromatic losses may be either at the retinal level and/or reflect reduced cortical integration.

  10. Autism spectrum disorders in adult outpatients with obsessive compulsive disorder in the UK.

    Science.gov (United States)

    Wikramanayake, Waduge Nishani Maheshi; Mandy, William; Shahper, Sonia; Kaur, Sukhwinder; Kolli, Sangeetha; Osman, Selma; Reid, Jemma; Jefferies-Sewell, Kiri; Fineberg, Naomi Anne

    2018-03-01

    Patients with obsessive compulsive disorder (OCD) frequently show traits of autism spectrum disorders (ASD). This is one of the first studies to explore the clinical impact of the overlap between OCD and ASD as a categorical diagnosis. A cross-sectional survey in 73 adult outpatients with DSM-IV OCD. Autistic traits were measured using the Autism-Spectrum Quotient (AQ). A clinical estimate ASD diagnosis was made by interview using DSM-IV-TR criteria. OCD patients with and without autistic traits or ASD were compared on demographic and clinical parameters and level of OCD treatment-resistance based on treatment history. Thirty-four (47%) patients scored above the clinical threshold on the AQ (≥26) and 21 (27.8%) met diagnostic criteria for ASD. These diagnoses had not been made before. Patients with autistic traits showed a borderline significant increase in OCD symptom-severity (Yale-Brown Obsessive Compulsive Scale (Y-BOCS); p = .054) and significantly increased impairment of insight (Brown Assessment of Beliefs Scale; p = .01). There was a positive correlation between AQ and Y-BOCS scores (p = .04), but not with OCD treatment resistance. There is a high prevalence of previously undiagnosed ASD in patients with OCD. ASD traits are associated with greater OCD symptom-severity and poor insight.

  11. Solitary mammals provide an animal model for autism spectrum disorders.

    Science.gov (United States)

    Reser, Jared Edward

    2014-02-01

    Species of solitary mammals are known to exhibit specialized, neurological adaptations that prepare them to focus working memory on food procurement and survival rather than on social interaction. Solitary and nonmonogamous mammals, which do not form strong social bonds, have been documented to exhibit behaviors and biomarkers that are similar to endophenotypes in autism. Both individuals on the autism spectrum and certain solitary mammals have been reported to be low on measures of affiliative need, bodily expressiveness, bonding and attachment, direct and shared gazing, emotional engagement, conspecific recognition, partner preference, separation distress, and social approach behavior. Solitary mammals also exhibit certain biomarkers that are characteristic of autism, including diminished oxytocin and vasopressin signaling, dysregulation of the endogenous opioid system, increased Hypothalamic-pituitary-adrenal axis (HPA) activity to social encounters, and reduced HPA activity to separation and isolation. The extent of these similarities suggests that solitary mammals may offer a useful model of autism spectrum disorders and an opportunity for investigating genetic and epigenetic etiological factors. If the brain in autism can be shown to exhibit distinct homologous or homoplastic similarities to the brains of solitary animals, it will reveal that they may be central to the phenotype and should be targeted for further investigation. Research of the neurological, cellular, and molecular basis of these specializations in other mammals may provide insight for behavioral analysis, communication intervention, and psychopharmacology for autism.

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

    Science.gov (United States)

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

    2014-08-01

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

  13. Tics and Tourette Syndrome in Autism Spectrum Disorders

    Science.gov (United States)

    Canitano, Roberto; Vivanti, Giacomo

    2007-01-01

    Autism spectrum disorders (ASDs) are more frequently associated with tic disorders than expected by chance. Variable rates of comorbidity have been reported and common genetic and neurobiological factors are probably involved. The aim of this study was to determine the rate of tic disorders in a clinical sample (n = 105) of children and…

  14. Seizures and Epilepsy and Their Relationship to Autism Spectrum Disorders

    Science.gov (United States)

    Matson, Johnny L.; Neal, Daniene

    2009-01-01

    Autism spectrum disorders (ASD) are serious neurodevelopmental disorders which often co-occur with intellectual disabilities. A disorder which is strongly correlated with both of these disabilities are seizures and epilepsy. The purpose of this review was to provide an overview of available research on seizures and epilepsy in the ASD population…

  15. Frontal networks in adults with autism spectrum disorder.

    Science.gov (United States)

    Catani, Marco; Dell'Acqua, Flavio; Budisavljevic, Sanja; Howells, Henrietta; Thiebaut de Schotten, Michel; Froudist-Walsh, Seán; D'Anna, Lucio; Thompson, Abigail; Sandrone, Stefano; Bullmore, Edward T; Suckling, John; Baron-Cohen, Simon; Lombardo, Michael V; Wheelwright, Sally J; Chakrabarti, Bhismadev; Lai, Meng-Chuan; Ruigrok, Amber N V; Leemans, Alexander; Ecker, Christine; Consortium, Mrc Aims; Craig, Michael C; Murphy, Declan G M

    2016-02-01

    It has been postulated that autism spectrum disorder is underpinned by an 'atypical connectivity' involving higher-order association brain regions. To test this hypothesis in a large cohort of adults with autism spectrum disorder we compared the white matter networks of 61 adult males with autism spectrum disorder and 61 neurotypical controls, using two complementary approaches to diffusion tensor magnetic resonance imaging. First, we applied tract-based spatial statistics, a 'whole brain' non-hypothesis driven method, to identify differences in white matter networks in adults with autism spectrum disorder. Following this we used a tract-specific analysis, based on tractography, to carry out a more detailed analysis of individual tracts identified by tract-based spatial statistics. Finally, within the autism spectrum disorder group, we studied the relationship between diffusion measures and autistic symptom severity. Tract-based spatial statistics revealed that autism spectrum disorder was associated with significantly reduced fractional anisotropy in regions that included frontal lobe pathways. Tractography analysis of these specific pathways showed increased mean and perpendicular diffusivity, and reduced number of streamlines in the anterior and long segments of the arcuate fasciculus, cingulum and uncinate--predominantly in the left hemisphere. Abnormalities were also evident in the anterior portions of the corpus callosum connecting left and right frontal lobes. The degree of microstructural alteration of the arcuate and uncinate fasciculi was associated with severity of symptoms in language and social reciprocity in childhood. Our results indicated that autism spectrum disorder is a developmental condition associated with abnormal connectivity of the frontal lobes. Furthermore our findings showed that male adults with autism spectrum disorder have regional differences in brain anatomy, which correlate with specific aspects of autistic symptoms. Overall these

  16. Referential communication in children with autism spectrum disorder.

    Science.gov (United States)

    Dahlgren, Svenolof; Sandberg, Annika Dahlgren

    2008-07-01

    Referential communication was studied in children with autism spectrum disorder (ASD) including children with autism and Asperger syndrome. The aim was to study alternative explanations for the children's communicative problems in such situations. Factors studied were theory of mind, IQ, verbal ability and memory. The main results demonstrated diminished performance in children with autism spectrum disorder, mirroring performance in everyday life, in comparison to verbal IQ and mental age matched typically developing children. Among children with autism spectrum disorders, there was a positive relationship between performance in referential communication and theory of mind. Memory capacity also proved to play a role in success in the task.

  17. The cost of autism spectrum disorders.

    Directory of Open Access Journals (Sweden)

    Chiara Horlin

    Full Text Available A diagnosis of an autism spectrum disorders is usually associated with substantial lifetime costs to an individual, their family and the community. However, there remains an elusive factor in any cost-benefit analysis of ASD diagnosis, namely the cost of not obtaining a diagnosis. Given the infeasibility of estimating the costs of a population that, by its nature, is inaccessible, the current study compares expenses between families whose children received a formal ASD diagnosis immediately upon suspecting developmental atypicality and seeking advice, with families that experienced a delay between first suspicion and formal diagnosis.A register based questionnaire study covering all families with a child with ASD in Western Australia.Families with one or more children diagnosed with an ASD, totalling 521 children diagnosed with an ASD; 317 records were able to be included in the final analysis.The median family cost of ASD was estimated to be AUD $34,900 per annum with almost 90% of the sum ($29,200 due to loss of income from employment. For each additional symptom reported, approximately $1,400 cost for the family per annum was added. While there was little direct influence on costs associated with a delay in the diagnosis, the delay was associated with a modest increase in the number of ASD symptoms, indirectly impacting the cost of ASD.A delay in diagnosis was associated with an indirect increased financial burden to families. Early and appropriate access to early intervention is known to improve a child's long-term outcomes and reduce lifetime costs to the individual, family and society. Consequently, a per symptom dollar value may assist in allocation of individualised funding amounts for interventions rather than a nominal amount allocated to all children below a certain age, regardless of symptom presentation, as is the case in Western Australia.

  18. Understanding visual consciousness in autism spectrum disorders.

    Science.gov (United States)

    Yatziv, Tal; Jacobson, Hilla

    2015-01-01

    The paper focuses on the question of what the (visual) perceptual differences are between individuals with autism spectrum disorders (ASD) and typically developing (TD) individuals. We argue against the view that autistic subjects have a deficiency in the most basic form of perceptual consciousness-namely, phenomenal consciousness. Instead, we maintain, the perceptual atypicality of individuals with autism is of a more conceptual and cognitive sort-their perceptual experiences share crucial aspects with TD individuals. Our starting point is Ben Shalom's (2005, 2009) three-level processing framework for explaining atypicality in several domains of processing among autistics, which we compare with two other tripartite models of perception-Jackendoff's (1987) and Prinz's (2000, 2005a, 2007) Intermediate Level Hypothesis and Lamme's (2004, 2006, 2010) neural account of consciousness. According to these models, whereas the second level of processing is concerned with viewer-centered visual representations of basic visual properties and incorporates some early forms of integration, the third level is more cognitive and conceptual. We argue that the data suggest that the atypicality in autism is restricted mainly to the third level. More specifically, second-level integration, which is the mark of phenomenal consciousness, is typical, yet third-level integration of perceptual objects and concepts is atypical. Thus, the basic experiences of individuals with autism are likely to be similar to typical subjects' experiences; the main difference lies in the sort of cognitive access the subjects have to their experiences. We conclude by discussing implications of the suggested analysis of experience in autism for conceptions of phenomenal consciousness.

  19. A review on cognitive and brain endophenotypes that may be common in autism spectrum disorder and attention-deficit/hyperactivity disorder and facilitate the search for pleiotropic genes

    NARCIS (Netherlands)

    Rommelse, Nanda N. J.; Geurts, Hilde M.; Franke, Barbara; Buitelaar, Jan K.; Hartman, Catharina A.

    We propose to bring together the hitherto rather separate research fields of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), and argue that by contrasting and combining findings of the endophenotypes of ASD and ADHD new insights can be gained into the etiology and

  20. Factors influencing the probability of a diagnosis of autism spectrum disorder in girls versus boys.

    Science.gov (United States)

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

    2017-08-01

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

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

    Science.gov (United States)

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

    2017-11-01

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

  2. Enhancing work outcomes of employees with autism spectrum disorder through leadership: leadership for employees with autism spectrum disorder.

    Science.gov (United States)

    Parr, Alissa D; Hunter, Samuel T

    2014-07-01

    The focus of this study was to identify leader behaviors that elicit successful engagement of employees with autism spectrum disorder, a population that is powerfully emerging into the workplace. The ultimate goal was to improve the quality of life of employees with autism spectrum disorder by facilitating an environment leading to their success. Through a series of interviews with 54 employees with autism spectrum disorder, results indicated that leadership has a great effect on employee attitudes and performance, and that the notion of leadership preferences is quite complex culminating in several important behaviors rather than one superior leadership theory. Implications and future research directions are discussed. © The Author(s) 2013.

  3. Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

    NARCIS (Netherlands)

    Zeynelabidin, S. (Sara); Klouwer, F.C.C. (Femke C. C.); J.C.M. Meijers; Suijker, M.H. (Monique H.); M. Engelen (Marc); B.T. Poll-The; C.H. van Ommen (Heleen)

    2017-01-01

    textabstractIntroduction: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This leads to a range of symptoms, including hepatic dysfunction and coagulopathy. This study evaluated the incidence and severity of

  4. The prevalence and causes of autistic spectrum disorders.

    Science.gov (United States)

    Hainsworth, Terry

    Autism and autistic spectrum disorders are still relatively poorly understood. This article outlines the results of new research into the prevalence of autism and into the causes of the condition and highlights implications for nurses from the findings.

  5. Self‐Disorders as schizophrenia spectrum vulnerability phenotypes

    DEFF Research Database (Denmark)

    Raballo, Andrea

    2011-01-01

    Schizophrenia spectrum disorders are characterised by manifold psychopathological expressions, which might include major symptoms (such as delusions, hallucinations or social withdrawal), psychobehavioural enduring personality patterns (e.g. schizoid/schizotypal traits), or more subtle, quasi...

  6. Aripiprazole for autism spectrum disorders (ASD).

    Science.gov (United States)

    Hirsch, Lauren E; Pringsheim, Tamara

    2016-06-26

    Autism spectrum disorders (ASD) include autistic disorder, Asperger's disorder and pervasive developmental disorder - not otherwise specified (PDD-NOS). Antipsychotics have been used as a medication intervention for irritability related to ASD. Aripiprazole, a third-generation, atypical antipsychotic, is a relatively new drug that has a unique mechanism of action different from that of other antipsychotics. This review updates a previous Cochrane review on the safety and efficacy of aripiprazole for individuals with ASD, published in 2011 (Ching 2011). To assess the safety and efficacy of aripiprazole as medication treatment for individuals with ASD. In October 2015, we searched the Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE, Embase, the Cumulative Index to Nursing and Allied Health Literature (CINAHL) and seven other databases as well as two trial registers. We searched for records published in 1990 or later, as this was the year aripiprazole became available. Randomised controlled trials (RCTs) of aripiprazole (administered orally and at any dosage) versus placebo for treatment of individuals with a diagnosis of ASD. Two review authors independently collected, evaluated and analysed data. We performed meta-analysis for primary and secondary outcomes, when possible. We used the GRADE (Grades of Recommendation, Assessment, Development and Evaluation) approach to rate the overall quality of the evidence. We included three trials in this review. Two were included in the previous published review, and the results of one, placebo-controlled discontinuation study were added to this review. Although we searched for studies across age groups, we found only studies conducted in children and youth. Included trials had low risk of bias across most domains. High risk of bias was seen in only one trial with incomplete outcome data. We judged the overall quality of the evidence for most outcomes to be moderate.Two RCTs with similar methods evaluated

  7. Hypertrophic pachymeningitis accompanying neuromyelitis optica spectrum disorder: A case report.

    Science.gov (United States)

    Kon, Tomoya; Nishijima, Haruo; Haga, Rie; Funamizu, Yukihisa; Ueno, Tatsuya; Arai, Akira; Suzuki, Chieko; Nunomura, Jin-ichi; Baba, Masayuki; Takahashi, Toshiyuki; Tomiyama, Masahiko

    2015-10-15

    We report a case of idiopathic cerebral hypertrophic pachymeningitis accompanying neuromyelitis optica spectrum disorder. No other identifiable cause of pachymeningitis was detected. Corticosteroid therapy was effective for both diseases. Hypertrophic pachymeningitis is closely related to autoimmune inflammatory disease of the central nervous system. This case supports the hypothesis that hypertrophic pachymeningitis can be a rare comorbidity of neuromyelitis optica spectrum disorder. Copyright © 2015. Published by Elsevier B.V.

  8. Schizotypal personality disorder inside and outside the schizophrenic spectrum.

    Science.gov (United States)

    Torgersen, Svenn; Edvardsen, J; Øien, P A; Onstad, S; Skre, I; Lygren, S; Kringlen, E

    2002-03-01

    The concept of schizotypal personality disorder has been heavily discussed since its introduction into the official classification of mental disorders in DSM-III. The aim of this study was to investigate the difference between schizotypal personality disorder within and outside the genetic spectrum of schizophrenia. Schizotypals with and without schizophrenic cotwins and first-degree relatives were compared, with individuals with other mental disorders and no mental disorders as controls. It appeared that only inadequate rapport and odd communication were more pronounced among schizotypals within, compared to schizotypals outside the schizophrenic spectrum. Schizotypals outside the schizophrenic spectrum, however, scored higher than schizotypals inside the schizophrenic spectrum on ideas of reference, suspiciousness, paranoia, social anxiety, self-damaging acts, chronic anger, free-floating anxiety and sensitivity to rejection. Interestingly, the four last features are seldom observed among schizotypals inside the schizophrenic spectrum. Monozygotic non-schizophrenic cotwins of schizophrenics score high on inadequate rapport, odd communication, social isolation and delusions/hallucinations. Monozygotic non-schizophrenic cotwins of schizotypals outside the schizophrenic genetic spectrum score high on illusions, depersonalization, derealization and magical thinking. Negative schizotypal features appear to be inside the schizophrenic spectrum, while positive borderline-like features are outside having another genetic endowment.

  9. Pitch perception in children with autistic spectrum disorders

    NARCIS (Netherlands)

    Altgassen, A.M.; Kliegel, M.; Williams, T.I.

    2005-01-01

    This study investigated the accuracy of musical pitch detection in children with autistic spectrum disorders as compared with typically developing children. Seventeen children on the autistic spectrum (Mage=9.34, SDage=1.12) and 13 typically developing, chronological age-matched children (Mage=9.13,

  10. Cultural Basis of Social "Deficits" in Autism Spectrum Disorders

    Science.gov (United States)

    Perepa, Prithvi

    2014-01-01

    There is very little research that specifically looks at how autism spectrum disorders are perceived in various communities. This qualitative research was conducted with parents who had children on the autistic spectrum belonging to four different ethnic communities (White British, Somali, West African and South Asian--63 in total) and living in…

  11. Clinical Manifestations of Self-disorders in Schizophrenia Spectrum Conditions

    Directory of Open Access Journals (Sweden)

    Henriksen Mads Gram

    2017-09-01

    Full Text Available This article explores the phenomenologically informed, theoretical and empirical research direction on self-disorders in the schizophrenia spectrum conditions. First, we describe the concept of ‘self’ that is operative in the concept of ‘self-disorders’ and we discuss how this self may be disordered or fragile in the schizophrenia spectrum. Second, we offer a detailed psychopathological presentation and discussion of 3 patients with schizophrenia. The vignettes provide paradigmatic examples of self-disorders in schizophrenia. Third, we summarize the main findings in the current empirical research on self-disorders. These findings consistently indicate that self-disorders constitute a crucial, trait phenotype of the schizophrenia spectrum.

  12. Social cognition in the differential diagnosis of autism spectrum disorders and personality disorders

    NARCIS (Netherlands)

    Duijkers, J.C.L.M.; Vissers, C.Th.W.M.; Verbeeck, W.; Arntz, A.; Egger, J.I.M.

    2014-01-01

    Average intelligent patients with autism spectrum disorders (ASD) and patients with personality disorders (PD) are expected to show different problems in social cognition. Consequently, measuring social cognition may contribute to a better understanding and differentiation of ASD and PD. Therefore,

  13. Precursors to the Development of Anxiety Disorders in Young Children with Autism Spectrum Disorder

    Science.gov (United States)

    2017-12-01

    AWARD NUMBER: W81XWH-14-1-0527 TITLE: Precursors to the Development of Anxiety Disorders in Young Children with Autism Spectrum Disorder...2017 4. TITLE AND SUBTITLE Precursors to the Development of Anxiety Disorders in Young Children with Autism Spectrum Disorder 5a. CONTRACT NUMBER 5b...neurophysiological, and observational measures. Initial findings indicate that children with ASD who have clinically significant sensory are at increased risk for

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

    NARCIS (Netherlands)

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

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

  15. Parenting Children with Autism Spectrum Disorders: The Couple's Relationship

    Science.gov (United States)

    Brobst, Jennifer B.; Clopton, James R.; Hendrick, Susan S.

    2009-01-01

    Balancing the roles of parent and partner is challenging for most people and may be especially challenging when extra time and effort are required in the parenting role. The current research compared 25 couples whose children have autism spectrum disorders (ASD) with 20 couples whose children do not have developmental disorders. Comparisons were…

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

    NARCIS (Netherlands)

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

    2017-01-01

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

  17. Theory of Mind Abilities and Deficits in Autism Spectrum Disorders

    Science.gov (United States)

    Kimhi, Yael

    2014-01-01

    Autism spectrum disorder (ASD) is a neurobiological disorder that significantly impairs children's social interaction, verbal and nonverbal communication, and behaviors. Questions about theory of mind (ToM) deficits in ASD have generated a large number of empirical studies. This article reviews current studies of the relationship between ToM and…

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

    Science.gov (United States)

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

    2016-01-01

    The influence of specific autism spectrum disorder (ASD) deficits in Intelligence Quotients (IQ), Indexes and subtests from the Wechsler Intelligence Scale for Children-III was investigated in 445 school-aged children: ASD (N = 224) and other neurodevelopmental disorders (N = 221), matched by Full-Scale IQ and chronological age. ASD have lower…

  19. Autism Spectrum Disorders in Gender Dysphoric Children and Adolescents

    Science.gov (United States)

    de Vries, Annelou L. C.; Noens, Ilse L. J.; Cohen-Kettenis, Peggy T.; van Berckelaer-Onnes, Ina A.; Doreleijers, Theo A.

    2010-01-01

    Only case reports have described the co-occurrence of gender identity disorder (GID) and autism spectrum disorders (ASD). This study examined this co-occurrence using a systematic approach. Children and adolescents (115 boys and 89 girls, mean age 10.8, SD = 3.58) referred to a gender identity clinic received a standardized assessment during which…

  20. Autism Spectrum Disorders in Gender Dysphoric Children and Adolescents

    NARCIS (Netherlands)

    de Vries, A.L.C.; Noens, I.L.J.; Cohen-Kettenis, P.T.; Berckelaer-Onnes, I.A.; Doreleijers, T.A.H.

    2010-01-01

    Only case reports have described the co-occurrence of gender identity disorder (GID) and autism spectrum disorders (ASD). This study examined this co-occurrence using a systematic approach. Children and adolescents (115 boys and 89 girls, mean age 10.8, SD = 3.58) referred to a gender identity

  1. Autism Spectrum Disorders. NICHCY Disability Fact Sheet #1

    Science.gov (United States)

    National Dissemination Center for Children with Disabilities, 2010

    2010-01-01

    Each of the disorders on the autism spectrum is a neurological disorder that affects a child's ability to communicate, understand language, play, and relate to others. They share some or all of the following characteristics, which can vary from mild to severe: (1) Communication problems (for example, with the use or comprehension of language); (2)…

  2. Chromosomal Abnormalities and Putative Susceptibility Genes in Autism Spectrum Disorders

    DEFF Research Database (Denmark)

    Nielsen, Mette Gilling

    Autism spectrum disorders (ASDs) is a heterogeneous group of neurodevelopmental disorders with a significant genetic component as shown by family and twin studies. However, only a few genes have repeatedly been shown to be involved in the development of ASDs. The aim of this study has been...

  3. Amniotic fluid MMP-9 and neurotrophins in autism spectrum disorders

    DEFF Research Database (Denmark)

    Abdallah, Morsi; Pearce, Brad D; Larsen, Nanna

    2012-01-01

    Evidence suggests that some developmental disorders, such as autism spectrum disorders (ASDs), are caused by errors in brain plasticity. Given the important role of matrix metalloproteinases (MMPs) and neurotrophins (NTs) in neuroplasticity, amniotic fluid samples for 331 ASD cases and 698...

  4. Neural Mechanisms of Emotion Regulation in Autism Spectrum Disorder

    Science.gov (United States)

    Richey, J. Anthony; Damiano, Cara R.; Sabatino, Antoinette; Rittenberg, Alison; Petty, Chris; Bizzell, Josh; Voyvodic, James; Heller, Aaron S.; Coffman, Marika C.; Smoski, Moria; Davidson, Richard J.; Dichter, Gabriel S.

    2015-01-01

    Autism spectrum disorder (ASD) is characterized by high rates of comorbid internalizing and externalizing disorders. One mechanistic account of these comorbidities is that ASD is characterized by impaired emotion regulation (ER) that results in deficits modulating emotional responses. We assessed neural activation during cognitive reappraisal of…

  5. Gastrointestinal Dysfunctions as a Risk Factor for Sleep Disorders in Children with Idiopathic Autism Spectrum Disorder: A Retrospective Cohort Study

    Science.gov (United States)

    McCue, Lena M.; Flick, Louise H.; Twyman, Kimberly A.; Xian, Hong

    2017-01-01

    Sleep disorders often co-occur with autism spectrum disorder. They further exacerbate autism spectrum disorder symptoms and interfere with children's and parental quality of life. This study examines whether gastrointestinal dysfunctions increase the odds of having sleep disorders in 610 children with idiopathic autism spectrum disorder, aged 2-18…

  6. Minor physical anomalies and schizophrenia spectrum disorders: a prospective investigation

    DEFF Research Database (Denmark)

    Schiffman, Jason; Ekstrøm, Morten; LaBrie, Joseph

    2002-01-01

    OBJECTIVE: The authors prospectively assessed the relationship between minor physical anomalies identified in childhood and adult psychiatric outcome. METHOD: In 1972, minor physical anomalies were measured in a group of 265 Danish children ages 11-13. The examination was part of a larger study...... investigating early signs of schizophrenia spectrum disorders. Many of the subjects had a parent with schizophrenia, leaving them at high risk for developing a schizophrenia spectrum disorder. In 1991, adult psychiatric outcome data were obtained for 91.3% (N=242) of the original subjects, including 81 who were...... anomalies may provide important clues to understanding schizophrenia spectrum disorders from a neurodevelopmental perspective. Minor physical anomalies appear to signal stressors relevant to schizophrenia spectrum development, especially in those at genetic risk for schizophrenia....

  7. Autism Spectrum Disorder and Avoidant/Restrictive Food Intake Disorder.

    Science.gov (United States)

    Lucarelli, Jennifer; Pappas, Demetra; Welchons, Leah; Augustyn, Marilyn

    2017-01-01

    Kendra is a 4-year-old girl with autism spectrum disorder (ASD) who presents for follow-up of feeding problems to her pediatric clinician. She is an only child in a family where both parents are scientists. Feeding concerns date to infancy, when she was diagnosed with Gastroesophageal Reflux Disease (GERD) associated with persistent bottle refusal and the acceptance of few pureed foods. At 13 months, milk and peanut allergies were diagnosed. Following a feeding clinic evaluation at 24 months, she was prescribed a soy milk supplement and an H2 blocker. There was no concern for oral-motor dysfunction. She was also referred to early intervention for feeding therapy. However, her parents terminated participation after 6 months because she became anxious and had tantrum prior to treatment groups.She was seen in another feeding program at 3 years; zinc, folate, thyroid, and a celiac panel were normal, and an endoscopy was negative for eosinophilic esophagitis. She began individual feeding therapy, where concerns for rigidity, difficulty transitioning, and limited peer interactions led to a neuropsychological evaluation. Kendra was diagnosed with an ASD and avoidant/restrictive food intake disorder (ARFID). Her cognitive skills were average, and expressive and receptive language skills were low average.Her diet consisted of French fries, Ritz crackers, pretzels, and 32 ounces of soy formula daily. She had stopped accepting Cheerios and saltines 2 months prior. She controlled other aspects of feeding, insisting on a specific parking spot at a fast food restaurant and drinking from a particular sippy cup. Her parents accepted these demands with concern about her caloric intake, which they tracked daily.Following diagnosis with ARFID, she resumed feeding therapy using a systematic desensitization approach with rewards. At the first session, she kissed and licked 2 new foods without gagging. Her mother appeared receptive to recommendations that included continuing the "food

  8. Childhood laterality and adult schizophrenia spectrum disorders: a prospective investigation

    DEFF Research Database (Denmark)

    Schiffman, Jason; Pestle, Sarah; Mednick, Sara

    2005-01-01

    Left or mixed-handedness, footedness, and eye dominance are thought to indicate abnormalities in lateralization related to schizophrenia. Increased left or mixed-dominance in schizophrenia suggests possible hemispheric abnormalities associated with the disorder. A related body of research suggests...... between children who later developed a schizophrenia spectrum disorder (n = 26) and those who did not develop a schizophrenia spectrum disorder (n = 216), among a high-risk and control, longitudinal sample. The rate of left or mixed-footedness, eye dominance, and any anomalous lateralization...

  9. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder

    NARCIS (Netherlands)

    Rommelse, N.N.J.; Franke, B.; Geurts, H.M.; Hartman, C.A.; Buitelaar, J.K.

    2010-01-01

    Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders. Evidence indicates both disorders co-occur with a high frequency, in 20-50% of children with ADHD meeting criteria for ASD and in 30-80% of ASD children meeting

  10. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder.

    NARCIS (Netherlands)

    Rommelse, N.N.J.; Franke, B.; Geurts, H.M.; Hartman, C.A.; Buitelaar, J.K.

    2010-01-01

    Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders. Evidence indicates both disorders co-occur with a high frequency, in 20-50% of children with ADHD meeting criteria for ASD and in 30-80% of ASD children meeting

  11. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder

    NARCIS (Netherlands)

    Rommelse, Nanda N. J.; Franke, Barbara; Geurts, Hilde M.; Hartman, Catharina A.; Buitelaar, Jan K.

    Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders. Evidence indicates both disorders co-occur with a high frequency, in 20-50% of children with ADHD meeting criteria for ASD and in 30-80% of ASD children meeting

  12. Memory, learning and language in autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Jill Boucher

    2018-02-01

    Full Text Available Background and aims The ‘dual-systems’ model of language acquisition has been used by Ullman et al. to explain patterns of strength and weakness in the language of higher-functioning people with autism spectrum disorder. Specifically, intact declarative/explicit learning is argued to compensate for a deficit in non-declarative/implicit procedural learning, constituting an example of the so-called see-saw effect. Ullman and Pullman extended their argument concerning a see-saw effect on language in autism spectrum disorder to cover other perceived anomalies of behaviour, including impaired acquisition of social skills. The aim of this paper is to present a critique of Ullman et al.’s claims and to propose an alternative model of links between memory systems and language in autism spectrum disorder. Main contribution We argue that a four-system model of learning, in which intact semantic and procedural memory are used to compensate for weaknesses in episodic memory and perceptual learning, can better explain patterns of language ability across the autistic spectrum. We also argue that attempts to generalise the ‘impaired implicit learning/spared declarative learning’ theory to other behaviours in autism spectrum disorder are unsustainable. Conclusions Clinically significant language impairments in autism spectrum disorder are under-researched, despite their impact on everyday functioning and quality of life. The relative paucity of research findings in this area lays it open to speculative interpretation which may be misleading. Implications More research is needed into links between memory/learning systems and language impairments across the spectrum. Improved understanding should inform therapeutic intervention and contribute to investigation of the causes of language impairment in autism spectrum disorder with potential implications for prevention.

  13. The influence of media suggestions about links between criminality and autism spectrum disorder.

    Science.gov (United States)

    Brewer, Neil; Zoanetti, Jordana; Young, Robyn L

    2017-01-01

    We examined whether media reports linking criminal behaviour and autism spectrum disorder foster negative attitudes towards individuals with autism spectrum disorder. In a between-subjects design, participants were exposed to (a) a media story in which a murderer was labelled with autism spectrum disorder (media exposure condition) or not labelled with any disorder (control) and (b) an autism spectrum disorder-education condition attacking the myth that people diagnosed with autism spectrum disorder are likely to be violent criminals or a no-autism spectrum disorder-education condition. Participants attitudes towards three different crime perpetrators (one with autism spectrum disorder) described in separate vignettes were probed. The media exposure linking crime and autism spectrum disorder promoted more negative attitudes towards individuals with autism spectrum disorder, whereas the positive autism spectrum disorder-related educational message had the opposite effect. © The Author(s) 2016.

  14. PROVIDING DENTAL CARE FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS

    Directory of Open Access Journals (Sweden)

    Diana MURARU

    2017-06-01

    Full Text Available Given the increasing prevalence of autism spectrum disorders, it is realistic to assume that dental professionals are likely to treat individuals with this diagnosis. Understanding the complexities of this disorder and its behavioral manifestations is indispensable for dentists. The present article presents several characteristics of autism spectrum disorder that impact dental interventions, along with medical and behavioral alternatives to better manage the dental problems of children with autism spectrum disorder. A multidisciplinary approach and family support are important for planning a dental intervention for these patients in order to avoid anxiety. Knowledge on autism, the dentist-patient relationship and the individual preparation for dental interventions is useful for constructing a controllable medical experience

  15. [Voxel-Based Morphometry in Autism Spectrum Disorder].

    Science.gov (United States)

    Yamasue, Hidenori

    2017-05-01

    Autism spectrum disorder shows deficits in social communication and interaction including nonverbal communicative behaviors (e.g., eye contact, gestures, voice prosody, and facial expressions) and restricted and repetitive behaviors as its core symptoms. These core symptoms are emerged as an atypical behavioral development in toddlers with the disorder. Atypical neural development is considered to be a neural underpinning of such behaviorally atypical development. A number of studies using voxel-based morphometry have already been conducted to compare regional brain volumes between individuals with autism spectrum disorder and those with typical development. Furthermore, more than ten papers employing meta-analyses of the comparisons using voxel based morphometry between individuals with autism spectrum disorder and those with typical development have already been published. The current review paper adds some brief discussions about potential factors contributing to the inconsistency observed in the previous findings such as difficulty in controlling the confounding effects of different developmental phases among study participants.

  16. A Review of Visual Perspective taking in Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Amy ePearson

    2013-10-01

    Full Text Available Impairments in social cognition are a key symptom of Autism Spectrum Disorder. People with autism have great difficulty with understanding the beliefs and desires of other people. In recent years literature has begun to examine the link between impairments in social cognition and abilities which demand the use of spatial and social skills, such as visual perspective taking (VPT. Flavell (1977 defined two levels of perspective taking: VPT level 1 is the ability to understand that other people have a different line of sight to ourselves, whereas VPT level 2 is the understanding that two people viewing the same item from different points in space may see different things. So far, literature on whether either level of VPT is impaired or intact in autism is inconsistent. Here we review studies which have examined VPT levels 1 and 2 in people with autism with a focus on the methods that have been used to measure perspective taking. We conclude the review with an evaluation of the findings into VPT in autism and give recommendations for future research which may give a clearer insight into whether perspective taking is truly impaired in autism.

  17. Latent and Abnormal Functional Connectivity Circuits in Autism Spectrum Disorder.

    Science.gov (United States)

    Chen, Shuo; Xing, Yishi; Kang, Jian

    2017-01-01

    Autism spectrum disorder (ASD) is associated with disrupted brain networks. Neuroimaging techniques provide noninvasive methods of investigating abnormal connectivity patterns in ASD. In the present study, we compare functional connectivity networks in people with ASD with those in typical controls, using neuroimaging data from the Autism Brain Imaging Data Exchange (ABIDE) project. Specifically, we focus on the characteristics of intrinsic functional connectivity based on data collected by resting-state functional magnetic resonance imaging (rs-fMRI). Our aim was to identify disrupted brain connectivity patterns across all networks, instead of in individual edges, by using advanced statistical methods. Unlike many brain connectome studies, in which networks are prespecified before the edge connectivity in each network is compared between clinical groups, we detected the latent differentially expressed networks automatically. Our network-level analysis identified abnormal connectome networks that (i) included a high proportion of edges that were differentially expressed between people with ASD and typical controls; and (ii) showed highly-organized graph topology. These findings provide new insight into the study of the underlying neuropsychiatric mechanism of ASD.

  18. Everyday executive functioning influences adaptive skills in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Rachel K. Peterson

    2015-11-01

    Full Text Available Adaptive skills are often defined as a set of behaviors or constellation of skills that allow for an individual to function independently and meet environmental demands. Adaptive skills have been linked with an array of social and academic outcomes. Executive functions (EF have been defined as a set of “capacities that enable a person to engage successfully in independent, purposive, self-serving behavior”. While the literature has demonstrated some overlap in the definitions of adaptive skills and the purpose of executive functions, little has been done to investigate the relationship between the two. The current study sought to investigate this relationship within Autistic Spectrum Disorders (ASD, a clinical grouping that has demonstrated a predisposition towards deficits within both of these functional domains. ASD are oftentimes associated with EF deficits, especially in the domains of cognitive flexibility, planning, and working memory. Deficits in adaptive skills have also been commonly reported in relation to ASD, with a wide range of abilities being noted across previous studies. The purpose of this study was to examine relationships between adaptive skills and EF in individuals with ASD with the idea that an understanding of such relationships may offer insight into possible focus for intervention.

  19. Obsessive-compulsive disorder spectrum as a scientific "metaphor".

    Science.gov (United States)

    Pallanti, Stefano; Hollander, Eric

    2008-09-01

    As a result of clinical, epidemiological, neuroimaging, and therapy studies that took place in the late 1980s, obsessive-compulsive disorder (OCD) has been well-characterized in the field of anxiety disorders. Other disorders attracted attention for their similarities to OCD, and were located in the orbit of the disorder. OCD has become known as the "primary domain" of a scientific "metaphor" comprising the putative cluster of OCD-related disorders (OCRDs). It is a "paradigm" with which to explore basal ganglia dysfunction. The OCRDs share common phenomenology, comorbidities, lifetime course, demographics, possible genetics, and frontostriatal dysfunction (particularly caudate hyperactivity.) The adoption of this metaphor analogy has proven useful. However, 15 years since its emergence, the spectrum of obsessive-compulsive disorders remains controversial. Questions under debate include whether OCD is a unitary or split condition, whether it is an anxiety disorder, and whether there exists only one spectrum or several possible spectrums. Further work is needed to clarify obsessive-compulsive symptoms, subtypes, and endophenotypes. There is need to integrate existing databases, better define associated symptom domains, and create a more comprehensive endophenotyping protocol for OCRDs. There is also a need to integrate biological and psychological perspectives, concepts, and data to drive this evolution. By increasing research in this field, the OCD spectrum may evolve from a fragmented level of conceptualization as a "metaphor" to one that is more comprehensive and structured.

  20. What the Spectrum of Microglial Functions Can Teach us About Fetal Alcohol Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Elissa L. Wong

    2017-06-01

    Full Text Available Alcohol exposure during gestation can lead to severe defects in brain development and lifelong physical, behavioral and learning deficits that are classified under the umbrella term fetal alcohol spectrum disorder (FASD. Sadly, FASD is diagnosed at an alarmingly high rate, affecting 2%–5% of live births in the United States, making it the most common non-heritable cause of mental disability. Currently, no standard therapies exist that are effective at battling FASD symptoms, highlighting a pressing need to better understand the underlying mechanisms by which alcohol affects the developing brain. While it is clear that sensory and cognitive deficits are driven by inappropriate development and remodeling of the neural circuits that mediate these processes, alcohol’s actions acutely and long-term on the brain milieu are diverse and complex. Microglia, the brain’s immune cells, have been thought to be a target for alcohol during development because of their exquisite ability to rapidly detect and respond to perturbations affecting the brain. Additionally, our view of these immune cells is rapidly changing, and recent studies have revealed a myriad of microglial physiological functions critical for normal brain development and long-term function. A clear and complete understanding of how microglial roles on this end of the spectrum may be altered in FASD is currently lacking. Such information could provide important insights toward novel therapeutic targets for FASD treatment. Here we review the literature that links microglia to neural circuit remodeling and provide a discussion of the current understanding of how developmental alcohol exposure affects microglial behavior in the context of developing brain circuits.

  1. STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders.

    Science.gov (United States)

    Shi, Ziyan; Zhang, Qin; Chen, Hongxi; Lian, Zhiyun; Liu, Ju; Feng, Huiru; Miao, Xiaohui; Du, Qin; Zhou, Hongyu

    2017-12-01

    STAT4 plays a crucial role in the functioning of the innate and adaptive immune cells and has been identified as a susceptibility gene in numerous autoimmune disorders. However, its association with neuromyelitis optica spectrum disorders (NMOSD) remains uncertain. Here, we performed a case-control study to determine whether STAT4 contributed to the risk of NMOSD. We tested five STAT4 SNPs in 233 patients with established NMOSD and 492 healthy controls. Chi-square tests and logistic regression analyses were performed with four genetic models, including allelic, additive, dominant, and recessive models, to identify associations with NMOSD. The results of multiple test comparisons were corrected using the Benjamini and Hochberg false discovery rate (FDR-BH). After correcting for multiple test comparisons, the minor alleles of four STAT4 SNPs exhibited significant association with increased risk of NMOSD (rs7574865 T, odds ratio [OR] = 1.66, 95% confidence interval [CI] 1.32-2.08, P corr  = 0.000; rs10181656 G, OR = 1.62, 95% CI 1.29-2.03, P corr  = 0.000; rs10168266 T, OR = 1.59, 95% CI 1.27-2.00, P corr  = 0.001; and rs13426947 A, OR = 1.51, 95% CI 1.21-1.90, P corr  = 0.004). Identical results were observed in the dominant, recessive, and additive models. In contrast, the G allele of rs7601754 displayed a protective effect against NMOSD (OR = 0.53, 95% CI 0.36-0.76, P corr  = 0.006). Our study indicates that STAT4 polymorphisms are associated with the risk of NMOSD, which provides novel insights into the underlying mechanisms of this disease.

  2. PROSPECTS OF DIAGNOSTICS OF AUTISM SPECTRUM DISORDERS IN CHILDREN

    Directory of Open Access Journals (Sweden)

    O. G. Novoselova

    2014-01-01

    Full Text Available The relevance of a problem of autism spectrum disorder in children and the modern view on etiology and pathogenesis of these states are revealed in the article. Autism classification according to the International classification of diseases of the 10th revision adopted in Russia and important changes of a new classifier of the American psychiatric association concerning autism spectrum disorders are considered. The difficulties connected with diagnostics of autism spectrum disorders in children, autism comorbidity and some other psychiatric nosologies and the necessity of detailed differential diagnostics for a circle of these diseases are mentioned. Autism spectrum disorders are presented from the point of view of clinical genetics, the necessity of medical genetic consultation in diagnosing is proved. Definition of complex and essential autism is given. A number of widespread genetic syndromes with the description of clinical characteristics and molecular genetic mechanisms underlying the pathogenesis is allocated in the group of complex autism. Difficulties of molecular genetic confirmation of the diagnosis are revealed, the algorithm of search of mutations and the short description of methods of diagnostics are given. The efficiency of standard procedure of molecular genetic diagnostics at each stage, according to literary data, is shown in the group of children with essential autism. The opportunities and advantages of a method of the chromosomal micromatrix analysis as one of available modern methods of molecular genetic diagnostics in the group of children with autism spectrum disorders are highlighted on the example of extended microdeletion and microduplicational syndromes.

  3. Relationship between motor abilities and severity of autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Cvijetić Marija

    2017-01-01

    Full Text Available According to the findings in literature, motor skills of children with autism spectrum disorders generally differ from age expectations and are increasingly being associated with speech and language and social development, and adaptive behavior. The aim of the research was to determine the relationship between the development level of fine and gross motor skills and autism severity of children with autism spectrum disorder. The sample included 30 children with autism spectrum disorder and associated intellectual disability, seven to 19 years of age (M=11.97; SD=3.70. The assessment was conducted using the Peabody Motor Development Scale, the Vineland Adaptive Behavior Scale, and the criteria for describing the level of severity of autism spectrum disorder (APA, 2013. The results have shown that participants' motor skills significantly correlate with social communication (Peabody fine motor skills r=-0.452; p=0.012; Vineland fine motor skills r=-0.511; p=0.004; Vineland total r=-0.391; p=0.032 and restricted, repetitive behaviors (Peabody fine motor skills r=-0.383; p=0.037; Vineland fine motor skills r=-0.433; p=0.017; Vineland total r=-0.371; p=0.044. Lower level of autistic symptomatology is associated with higher motor achievements. It is necessary to pay more attention to the assessment and treatment of motor skills in children with autism spectrum disorder, given the established delay in the development of these skills, and bearing in mind their relationship with the severity of the symptoms of autism spectrum disorder. Timely identification of motor disorders would allow the use of early treatment and potentially lead to better results, compared to later inclusion in intervention programs.

  4. The MR spectrum of peroxisomal disorders

    International Nuclear Information System (INIS)

    Knaap, M.S. van der; Valk, J.; Vrije Univ., Amsterdam

    1991-01-01

    In the last decade an increasing number of peroxisomal disorders has been recognized. Almost all peroxisomal disorders affect the central nervous system. Many of them lead to demyelination, some of them lead to migrational disturbances. The MR pattern of X-linked adrenoleukodystrophy is well known, but the pattern of the other peroxisomal disorders is less well known. We evaluated the gray and white matter abnormalities of 20 patients on 32 occasions. We compared the results with histological data and in this way came to the description of a number of characteristic MR patterns occurring in peroxisomal disorders: (1) Neuronal migrational disturbances in combination with hypomyelination, dysmyelination or demyelination. (2) Symmetrical demyelination of posterior limb of the internal capsule, cerebellar white matter and brain stem tracts with a variable affection of cerebral hemispheres. (3) Symmetrical demyelination, exhibiting two zones, starting in the occipital area and spreading outwards and forwards; affection of brain stem tracts. (4) Less characteristic patterns of demyelination. The patterns are illustrated and differentiation from other disorders is discussed. (orig.)

  5. Autistic spectrum disorder: the challenge for dentists.

    Science.gov (United States)

    Berman, Marvin H

    2010-10-01

    Those who actively work with children are, with increasing frequency, encountering patients who have been diagnosed with autistic disorders. Often, dentists may be the first healthcare providers to recognize that a 1- or 2-year-old child has some type of extraordinary pervasive behavioral disorder that a parent, fearing the worst, may have suspected instinctively and emotionally but never faced objectively. Currently, there are no empirical biological tests (eg, blood tests or brain scans) for ASD that are reliable. The definitive diagnosis of ASD is usually made by pediatricians, psychologists, or psychiatrists who institute a process of analysis which involves a developmental and clinical history, tests for cognitive function, and assessment of receptive and expressive language skills. The etiology of ASD is an enigma. Highly regarded researchers are of the opinion that there is probably more than one cause since the disorder can have such disparate manifestations. Genetics, environmental poisons, neurologic psychopathy, dietary deficiencies, and allergies have all been implicated. Pervasive developmental disorders, Asperger's syndrome, Rett syndrome, and childhood degenerative disorders are all considered a part of the ASD group, but the distinction between the various entities is not always clear. Given the fact that the etiology and the increased incidence of the various ASDs are scientifically puzzling, treatment modalities tend to be wide ranging and very much trial and error, especially since there is no cure. Dental professionals who treat patients with ASDs should be knowledgeable about the special needs of not only these patients, but also of their parents.

  6. Cry, Baby, Cry: Expression of Distress As a Biomarker and Modulator in Autism Spectrum Disorder

    OpenAIRE

    Esposito, Gianluca; Hiroi, Noboru; Scattoni, Maria Luisa

    2017-01-01

    Abstract Background: Early diagnosis of autism spectrum disorder is critical, because early intensive treatment greatly improves its prognosis. Methods: We review studies that examined vocalizations of infants with autism spectrum disorder and mouse models of autism spectrum disorder as a potential means to identify autism spectrum disorder before the symptomatic elements of autism spectrum disorder emerge. We further discuss clinical implications and future research priorities in the field. ...

  7. A study of poor insight in social anxiety disorder.

    Science.gov (United States)

    Vigne, Paula; de Menezes, Gabriela B; Harrison, Ben J; Fontenelle, Leonardo F

    2014-11-30

    We investigated levels of insight among patients with Social Anxiety Disorder (SAD) as compared to patients with Obsessive-Compulsive Disorder (OCD) and evaluated whether levels of insight in SAD were related to specific sociodemographic and/or clinical features. Thirty-seven SAD patients and 51 OCD patients attending a tertiary obsessive-compulsive and anxiety disorders clinic were assessed with a sociodemographic and clinical questionnaire, a structured diagnostic interview, the Brown Assessment of Beliefs Scale (BABS), the Social Phobia Inventory (SPIN), the Beck Depression Inventory (BDI), the Sheehan Disability Scale (SDS), and the Treatment Adherence Survey-patient version (TAS-P). According to the BABS, SAD patients exhibited insight levels that were as low as those exhibited by OCD patients, with up to 29.7% of them being described as "poor insight" SAD. Although poor insight SAD patients were more frequently married, less depressed and displayed a statistical trend towards greater rates of early drop-out from cognitive-behavioral therapy, their insight levels were not associated with other variables of interest, including sex, age, employment, age at onset, duration of illness, associated psychiatric disorders, SPIN and SDS scores. Patients with poor insight SAD might perceive their symptoms as being less distressful and thus report fewer depressive symptoms and high rates of treatment non-adherence. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  8. Personality Characteristics of Adults With Autism Spectrum Disorders or Attention Deficit Hyperactivity Disorder With and Without Substance Use Disorders

    NARCIS (Netherlands)

    Sizoo, Bram; van den Brink, Wim; van Eenige, Marielle Gorissen; van der Gaag, Rutger Jan

    We examined temperament and character profiles of 128 adults with autism spectrum disorder (ASD) or attention deficit and hyperactivity disorder (ADHD). Participants completed the abbreviated Temperament and Character Inventory. The ASD and ADHD groups showed distinct temperament profiles (ADHD:

  9. Personality Characteristics of Adults With Autism Spectrum Disorders or Attention Deficit Hyperactivity Disorder With and Without Substance Use Disorders

    NARCIS (Netherlands)

    Sizoo, Bram; van den Brink, Wim; van Eenige, Marielle Gorissen; van der Gaag, Rutger Jan

    2009-01-01

    We examined temperament and character profiles of 128 adults with autism spectrum disorder (ASD) or attention deficit and hyperactivity disorder (ADHD). Participants completed the abbreviated Temperament and Character Inventory. The ASD and ADHD groups showed distinct temperament profiles (ADHD:

  10. Autistic spectrum disorder, epilepsy, and vagus nerve stimulation.

    Science.gov (United States)

    Hull, Mariam Mettry; Madhavan, Deepak; Zaroff, Charles M

    2015-08-01

    In individuals with a comorbid autistic spectrum disorder and medically refractory epilepsy, vagus nerve stimulation may offer the potential of seizure control and a positive behavioral side effect profile. We aimed to examine the behavioral side effect profile using longitudinal and quantitative data and review the potential mechanisms behind behavioral changes. We present a case report of a 10-year-old boy with autistic spectrum disorder and epilepsy, who underwent vagus nerve stimulation subsequent to unsuccessful treatment with antiepileptic medication. Following vagus nerve stimulation implantation, initial, if temporary, improvement was observed in seizure control. Modest improvements were also observed in behavior and development, improvements which were observed independent of seizure control. Vagus nerve stimulation in autistic spectrum disorder is associated with modest behavioral improvement, with unidentified etiology, although several candidates for this improvement are evident.

  11. Minor physical anomalies and schizophrenia spectrum disorders: a prospective investigation

    DEFF Research Database (Denmark)

    Schiffman, Jason; Ekstrøm, Morten; LaBrie, Joseph

    2002-01-01

    at high risk. RESULTS: Individuals with a high number of minor physical anomalies developed schizophrenia spectrum disorders significantly more often than they developed a no mental illness outcome. Further, individuals with a high number of minor physical anomalies tended to develop schizophrenia......OBJECTIVE: The authors prospectively assessed the relationship between minor physical anomalies identified in childhood and adult psychiatric outcome. METHOD: In 1972, minor physical anomalies were measured in a group of 265 Danish children ages 11-13. The examination was part of a larger study...... investigating early signs of schizophrenia spectrum disorders. Many of the subjects had a parent with schizophrenia, leaving them at high risk for developing a schizophrenia spectrum disorder. In 1991, adult psychiatric outcome data were obtained for 91.3% (N=242) of the original subjects, including 81 who were...

  12. Minor physical anomalies and schizophrenia spectrum disorders: a prospective investigation

    DEFF Research Database (Denmark)

    Schiffman, Jason; Ekstrøm, Morten; LaBrie, Joseph

    2002-01-01

    at high risk. RESULTS: Individuals with a high number of minor physical anomalies developed schizophrenia spectrum disorders significantly more often than they developed a no mental illness outcome. Further, individuals with a high number of minor physical anomalies tended to develop schizophrenia......OBJECTIVE: The authors prospectively assessed the relationship between minor physical anomalies identified in childhood and adult psychiatric outcome. METHOD: In 1972, minor physical anomalies were measured in a group of 265 Danish children ages 11-13. The examination was part of a larger study...... spectrum disorders more often than other psychopathology. Among individuals at genetic high risk, higher numbers of minor physical anomalies may interact with pre-existing vulnerabilities for schizophrenia to increase the likelihood of a schizophrenia spectrum disorder outcome. CONCLUSIONS: Minor physical...

  13. Disruptive mood dysregulation disorder: current insights

    Directory of Open Access Journals (Sweden)

    Baweja R

    2016-08-01

    Full Text Available Raman Baweja, Susan D Mayes, Usman Hameed, James G Waxmonsky Department of Psychiatry, Penn State University College of Medicine, Hershey, PA, USA Abstract: Disruptive mood dysregulation disorder (DMDD was introduced as a new diagnostic entity under the category of depressive disorders in Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5. It was included in DSM-5 primarily to address concerns about the misdiagnosis and consequent overtreatment of bipolar disorder in children and adolescents. DMDD does provide a home for a large percentage of referred children with severe persistent irritability that did not fit well into any DSM, Fourth Edition (DSM-IV diagnostic category. However, it has been a controversial addition to the DSM-5 due to lack of published validity studies, leading to questions about its validity as a distinct disorder. In this article, the authors discuss the diagnostic criteria, assessment, epidemiology, criticism of the diagnosis, and pathophysiology, as well as treatment and future directions for DMDD. They also review the literature on severe mood dysregulation, as described by the National Institute of Mental Health, as the scientific support for DMDD is based primarily on studies of severe mood dysregulation. Keywords: disruptive mood dysregulation disorder, persistent irritability, temper outbursts 

  14. Premorbid multivariate prediction of adult psychosis-spectrum disorder

    DEFF Research Database (Denmark)

    Schiffman, Jason; Kline, Emily; Jameson, Nicole D.

    2015-01-01

    whose parents had no mental illness, and children with at least one parent with a non-psychotic psychiatric diagnosis). Premorbid neurological factors and an indication of social function, as measured when participants were 10-13years of age, were combined to predict psychosis-spectrum disorders......Premorbid prediction of psychosis-spectrum disorders has implications for both understanding etiology and clinical identification. The current study used a longitudinal high-risk for psychosis design that included children of parents with schizophrenia as well as two groups of controls (children...

  15. Antidepressant exposure in pregnancy and risk of autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Sørensen MJ

    2013-11-01

    Full Text Available Merete Juul Sørensen,1 Therese Koops Grønborg,2 Jakob Christensen,3,4 Erik Thorlund Parner,2 Mogens Vestergaard,5,6 Diana Schendel,7 Lars Henning Pedersen8,9 1Regional Centre of Child and Adolescent Psychiatry, Aarhus University Hospital, Risskov, Denmark; 2Department of Public Health, Section of Biostatistics, Aarhus University, Aarhus, Denmark; 3Department of Neurology, Aarhus University Hospital, Aarhus, Denmark; 4Department of Clinical Pharmacology, 5Department of Public Health, Section of General Practice, 6Research unit for General Practice, Aarhus University, Aarhus, Denmark; 7Centers for Disease Control and Prevention, Atlanta, GA, USA; 8Danish Epidemiological Science Centre, Institute of Public Health, 9Department of Obstetrics and Gynecology, Institute of Clinical Medicine, Aarhus University, Aarhus, Denmark Background: Both the use of antidepressant medication during pregnancy and the prevalence of autism spectrum disorder have increased during recent years. A causal link has recently been suggested, but the association may be confounded by the underlying indication for antidepressant use. We investigated the association between maternal use of antidepressant medication in pregnancy and autism, controlling for potential confounding factors. Methods: We identified all children born alive in Denmark 1996–2006 (n=668,468 and their parents in the Danish Civil Registration System. We obtained information on the mother's prescriptions filled during pregnancy from the Danish National Prescription Registry, and on diagnoses of autism spectrum disorders in the children and diagnoses of psychiatric disorders in the parents from the Danish Psychiatric Central Register. In a cohort analysis, we estimated hazard ratios of autism spectrum disorders in children exposed to antidepressant medication during pregnancy compared with children who were not exposed, using Cox proportional hazards regression analysis. Furthermore, we estimated the risk

  16. [Autism spectrum disorder. Contemporary experimental researches review].

    Science.gov (United States)

    Luschekina, E A; Strelets, V B

    2014-01-01

    Autism, like schizophrenia, are heterogeneous diseases, which are directed by both genetic factors and external influences in the early stages of development. Knowledge about the similarities and differences of these disorders can help early diagnosis and treatment. Patients with autism have specific cognitive difficulties in social relations. They are characterized by impairment of social interaction, communication and behavioral flexibility. The severity of the delay the development of autistic children, clinical and psychological indicators is correlated with an increase in the high frequency of spontaneous EEG activity. Cognitive task in autistic children, unlike normal persons, does not lead to a significant restructuring of high-frequency EEG activity, which may be a violation of the reaction mechanism to external stimuli and behavioral disorders. Abnormality in high-frequency components of EEG reactivity on cognitive task, the perception of human faces and visual illusions as well as the inadequate system of mirror neurons, can be considered common mechanisms underlying disorders of autism and schizophrenia. These general mechanisms may be considered as related to violation of the inhibition-exitation balance, controlled via GABA-transmission and NMDA-receptors. A multidimensional study of patterns of disontogenesis in autism, in addition to detailing the clinical picture of disease and rehabilitation activities, allows us to clear the fundamental understanding of the brain.

  17. Response Inhibition in Adults with Autism Spectrum Disorder Compared to Attention Deficit/Hyperactivity Disorder

    Science.gov (United States)

    Johnston, Kate; Madden, Anya K.; Bramham, Jessica; Russell, Ailsa J.

    2011-01-01

    Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) are hypothesised to involve core deficits in executive function. Previous studies have found evidence of a double dissociation between the disorders on specific executive functions (planning and response inhibition). To date most research has been conducted with…

  18. Anxiety disorders in children and adolescents with autistic spectrum disorders: a meta-analysis

    NARCIS (Netherlands)

    van Steensel, F.J.A.; Bögels, S.M.; Perrin, S.

    2011-01-01

    There is considerable evidence that children and adolescents with autistic spectrum disorders (ASD) are at increased risk of anxiety and anxiety disorders. However, it is less clear which of the specific DSM-IV anxiety disorders occur most in this population. The present study used meta-analytic

  19. The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder

    NARCIS (Netherlands)

    Stam, A.J.; Schothorst, P.F.; Vorstman, J.A.; Staal, W.G.

    2013-01-01

    Autistic spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are classified as distinct disorders within the DSM-IV-TR (1994). The manual excludes simultaneous use of both diagnoses in case of overlap on a symptomatic level. However this does not always represent clinical

  20. Anxiety Disorders in Children and Adolescents with Autistic Spectrum Disorders: A Meta-Analysis

    Science.gov (United States)

    van Steensel, Francisca J. A.; Bogels, Susan M.; Perrin, Sean

    2011-01-01

    There is considerable evidence that children and adolescents with autistic spectrum disorders (ASD) are at increased risk of anxiety and anxiety disorders. However, it is less clear which of the specific DSM-IV anxiety disorders occur most in this population. The present study used meta-analytic techniques to help clarify this issue. A systematic…

  1. Cbt for anxiety disorders in children with and without autism spectrum disorders

    NARCIS (Netherlands)

    van Steensel, F.J.A.; Bögels, S.M.

    2015-01-01

    Objective: The effectiveness of cognitive-behavioral therapy (CBT) for anxiety disorders in children with autism spectrum disorders (ASD) was examined, and compared with children without ASD. Method: Children with ASD and comorbid anxiety disorders (n = 79, 58 boys; Mage = 11.76) and children with

  2. Formal thought disorder in autism spectrum disorder predicts future symptom severity, but not psychosis prodrome

    NARCIS (Netherlands)

    Eussen, M.L.J.M.; de Bruin, E.I.; van Gool, A.R.; Louwerse, E.S.; van der Ende, J.; Verheij, F.; Verhulst, F.C.; Greaves-Lord, K.

    2015-01-01

    Formal thought disorder (FTD) is a disruption in the flow of thought, which is inferred from disorganisation of spoken language. FTD in autism spectrum disorders (ASD) might be a precursor of psychotic disorders or a manifestation of ASD symptom severity. The current longitudinal study is a

  3. Brief Report: Autism Spectrum Disorder and Substance Use Disorder: A Review and Case Study

    Science.gov (United States)

    Rengit, Ashy C.; McKowen, James W.; O'Brien, Julie; Howe, Yamini J.; McDougle, Christopher J.

    2016-01-01

    There is limited literature available on the comorbidity between autism spectrum disorder (ASD) and substance use disorder (SUD). This paper reviews existing literature and exemplifies the challenges of treating this population with a case report of an adult male with ASD and DSM-5 alcohol use disorder. This review and case study seeks to…

  4. Childhood laterality and adult schizophrenia spectrum disorders: a prospective investigation

    DEFF Research Database (Denmark)

    Schiffman, Jason; Pestle, Sarah; Mednick, Sara

    2005-01-01

    Left or mixed-handedness, footedness, and eye dominance are thought to indicate abnormalities in lateralization related to schizophrenia. Increased left or mixed-dominance in schizophrenia suggests possible hemispheric abnormalities associated with the disorder. A related body of research suggests...... that some indications of lateralization abnormalities may be evident prior to the onset of schizophrenia, suggesting that disruptions in lateralization are inherent to the developmental course of the disorder. We attempted to replicate and extend upon findings indicating differences in lateralization...... between children who later developed a schizophrenia spectrum disorder (n = 26) and those who did not develop a schizophrenia spectrum disorder (n = 216), among a high-risk and control, longitudinal sample. The rate of left or mixed-footedness, eye dominance, and any anomalous lateralization...

  5. Visual Symptoms in Adults with Autism Spectrum Disorders

    OpenAIRE

    DR Simmons; AE Robertson

    2012-01-01

    Autism Spectrum Disorders (ASDs) are common developmental disorders thought to affect more than 1% of the UK population (Baird et al, 2006, The Lancet 368, 210). Whilst the current official diagnostic criteria for ASD concentrate on signs and symptoms associated with social behaviour, it is also well known that sensory difficulties are a major factor in the presentation of this condition (Simmons et al, 2009, Vision Research 49, 2705). Over the past few years we have been investigating these ...

  6. Treatment of Autism Spectrum Disorder in Children and Adolescents

    OpenAIRE

    DeFilippis, Melissa; Wagner, Karen Dineen

    2016-01-01

    Autism spectrum disorder is a diagnosis that includes significant social communication deficits/delays along with restricted patterns of interests and behaviors. The prevalence of this diagnosis has increased over the past few decades, and it is unclear whether this is solely attributable to the increased awareness of milder forms of the disorder among medical providers. The current treatment options for the core symptoms of autism are limited to psychosocial therapies, such as applied behavi...

  7. Autism Spectrum Disorder and High Confidence Gene Factors

    OpenAIRE

    Mai, MOCHIZUKI

    2017-01-01

    Autism spectrum disorder (ASD) is a neurological developmental disorder whose mechanism isyet unclear. However, recent ASD studies, which employ exome- and genome-wide sequencing,have identified some high-confidence ASD genes. Those ASD studies have revealed that CHD8is likely associated with ASD. In this article, we highlight that CHD8 may regulate othercandidate ASD risk genes. Current research indicates that there exist some thousand autismsusceptibility candidate genes. Moreover, we sugge...

  8. [Genetic and neuroendocrine aspects in autism spectrum disorder].

    Science.gov (United States)

    Oviedo, Norma; Manuel-Apolinar, Leticia; de la Chesnaye, Elsa; Guerra-Araiza, Christian

    The autism spectrum disorder (ASD) was described in 1943 and is defined as a developmental disorder that affects social interaction and communication. It is usually identified in early stages of development from 18 months of age. Currently, autism is considered a neurological disorder with a spectrum covering cases of different degrees, which is associated with genetic factors, not genetic and environmental. Among the genetic factors, various syndromes have been described that are associated with this disorder. Also, the neurobiology of autism has been studied at the genetic, neurophysiological, neurochemical and neuropathological levels. Neuroimaging techniques have shown multiple structural abnormalities in these patients. There have also been changes in the serotonergic, GABAergic, catecholaminergic and cholinergic systems related to this disorder. This paper presents an update of the information presented in the genetic and neuroendocrine aspects of autism spectrum disorder. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  9. Abnormal Brain Connectivity Spectrum Disorders Following Thimerosal Administration

    Directory of Open Access Journals (Sweden)

    David A. Geier

    2017-03-01

    Full Text Available Background: Autism spectrum disorder (ASD, tic disorder (TD, and hyperkinetic syndrome of childhood (attention deficit disorder [ADD]/attention deficit hyperactivity disorder [ADHD] are disorders recently defined as abnormal connectivity spectrum disorders (ACSDs because they show a similar pattern of abnormal brain connectivity. This study examines whether these disorders are associated with exposure to thimerosal, a mercury (Hg-based preservative. Methods: A hypothesis testing case-control study evaluated the Vaccine Safety Datalink for the potential dose-dependent odds ratios (ORs for diagnoses of ASD, TD, and ADD/ADHD compared to controls, following exposure to Hg from thimerosal-containing Haemophilus influenzae type b vaccines administrated within the first 15 months of life. Febrile seizures, cerebral degeneration, and unspecified disorders of metabolism, which are not biologically plausibly linked to thimerosal, were examined as control outcomes. Results: On a per 25 μg Hg basis, cases diagnosed with ASD (OR = 1.493, TD (OR = 1.428, or ADD/ADHD (OR = 1.503 were significantly (P < .001 more likely than controls to have received increased Hg exposure. Similar relationships were observed when separated by gender. Cases diagnosed with control outcomes were no more likely than controls to have received increased Hg exposure. Conclusion: The results suggest that Hg exposure from thimerosal is significantly associated with the ACSDs of ASD, TD, and ADD/ADHD.

  10. Autism spectrum symptoms in children with neurological disorders.

    Science.gov (United States)

    Ryland, Hilde K; Hysing, Mari; Posserud, Maj-Britt; Gillberg, Christopher; Lundervold, Astri J

    2012-11-12

    The aims of the present study were to assess symptoms associated with an autism spectrum disorder (ASD) in children with neurological disorders as reported by parents and teachers on the Autism Spectrum Screening Questionnaire (ASSQ), as well as the level of agreement between informants for each child. The ASSQ was completed by parents and teachers of the 5781 children (11-13 years) who participated in the second wave of the Bergen Child Study (BCS), an on-going longitudinal population-based study. Out of these children, 496 were reported to have a chronic illness, including 99 whom had a neurological disorder. The neurological disorder group included children both with and without intellectual disabilities. Children with neurological disorders obtained significantly higher parent and teacher reported ASSQ scores than did non-chronically ill children and those with other chronic illnesses (pchildren with neurological disorders was moderate to high for the total score and for three sub scores generated from a factor analysis, and low to moderate for single items. The ASSQ identifies a high rate of ASD symptoms in children with neurological disorders, and a large number of children screened in the positive range for ASD. Although a firm conclusion awaits further clinical studies, the present results suggest that health care professionals should be aware of potential ASD related problems in children with neurological disorders, and should consider inclusion of the ASSQ or similar screening instruments as part of their routine assessment of this group of children.

  11. Oxidative Stress and Mitochondrial Injury in Chronic Multisymptom Conditions: From Gulf War Illness to Autism Spectrum Disorder

    OpenAIRE

    Beatrice A. Golomb

    2012-01-01

    Background: Overlapping chronic multisymptom illnesses (CMI) include Chronic Fatigue Syndrome (CFS), fibromyalgia, irritable bowel syndrome, multiple chemical sensitivity, and Gulf War illness (GWI), and subsets of autism spectrum disorder (ASD). GWI entails a more circumscribed set of experiences that may provide insights of relevance to overlapping conditions.

  12. Potential Biomarkers for Diagnosis and Screening of Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Anna Meiliana

    2014-12-01

    Full Text Available BACKGROUND: Autism spectrum disorder (ASD is a highly heritable neurodevelopmental condition, which is typically characterized by a triad of symptoms: impaired social communication, social reciprocity and repetitive stereotypic behavior. While the behavioral phenotype of ASD is well described, the search for reliable ‘autism biomarkers’ continues. CONTENT: Insulin growth factor (IGF is essential for the myelination of developing fetal neurons; this is in addition to the well-known links between IGF, maternal inflammation, infection and autism supporting IGF as a potential marker. Combining IGF data with data regarding levels of the known markers, serotonin and anti-myelin basic protein, in order to calculate an autism index, could provide a new diagnostic method for at-risk neonates. Disruptions to multiple pathophysiological systems, including redox, folate, methylation, tryptophan metabolism, and mitochondrial metabolism, have been well documented in autistic patients. Maternal infection and inflammation have known links with autism. Autoimmunity has therefore been a well-studied area of autism research. The potential of using autoantibodies as novel biomarkers for autism, in addition to providing insights into the neurodevelopmental processes that lead to autism. SUMMARY: The six proposed causes of autism involve both metabolic and immunologic dysfunctions and include: increased oxidative stress; decreased methionine metabolism and trans-sulfuration: aberrant free and bound metal burden; gastrointestinal (GI disturbances; immune/inflammation dysregulation; and autoimmune targeting. A newborn screening program for early-onset ASD should be capable of utilizing a combination of ASD-associated biomarkers representative of the six proposed causes of autism in order to identify newborns at risk. The biomarkers discussed in this article are useful to guide the selection, efficacy and sufficiency of biomedical interventions, which would likely

  13. Co-morbid depressive disorder is associated with better neurocognitive performance in first episode schizophrenia spectrum.

    Science.gov (United States)

    Herniman, Sarah E; Cotton, Sue M; Killackey, Eóin; Hester, Robert; Allott, Kelly A

    2018-03-15

    Both major depressive disorder (MDD) and first episode schizophrenia spectrum (FES) are associated with significant neurocognitive deficits. However, it remains unclear whether the neurocognitive deficits in individuals with FES are more severe if there is comorbid depressive disorder. The aim of this study was to compare the neurocognitive profiles between those with and without full-threshold depressive disorder in FES. This study involved secondary analysis of baseline data from a randomized controlled trial of vocational intervention for young people with first-episode psychosis (N = 82; age range: 15-25 years). Those with full-threshold depressive disorder (n = 24) had significantly better information processing speed than those without full-threshold depressive disorder. Severity of depressive symptoms was also associated with better information processing speed. In additional to the cross-sectional design, limitations of this study include the absence of assessing insight as a potential mediator. After the first psychotic episode, it could be speculated that those with better information processing speed may be more likely to develop full-threshold depressive disorder, as their ability to efficiently process information may allow them to be more aware of their situations and environments, and consequently to have greater insight into the devastating consequences of FES. Such novel findings support the examination of full-threshold depressive disorder in relation to neurocognitive performance across illness phases in future work. Copyright © 2018 Elsevier B.V. All rights reserved.

  14. Challenges in Evaluating Psychosocial Interventions for Autistic Spectrum Disorders

    Science.gov (United States)

    Lord, Catherine; Wagner, Ann; Rogers, Sally; Szatmari, Peter; Aman, Michael; Charman, Tony; Dawson, Geraldine; Durand, V. Mark; Grossman, Lee; Guthrie, Donald; Harris, Sandra; Kasanri, Connie; Marcus, Lee; Murphy, Susan; Odom, Samuel; Pickles, Andrew; Scahill, Lawrence; Shaw, Evelyn; Siegel, Bryna; Sigman, Marian; Stone, Wendy; Smith, Tristram; Yoder, Paul

    2005-01-01

    In 2002, the National Institutes of Health sponsored a meeting concerning methodological challenges of research in psychosocial interventions in Autism Spectrum Disorders. This paper provides a summary of the presentations and the discussions that occurred during this meeting. Recommendations to federal and private agencies included the need for…

  15. Sleep and Behavioral Problems in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Mazurek, Micah O.; Sohl, Kristin

    2016-01-01

    Children with autism spectrum disorder (ASD) are at high risk for sleep disturbance and behavioral dysregulation. However, the relationships between these difficulties are not fully understood. The current study examined the relationships between specific types of sleep and behavioral problems among 81 children with ASD. Sleep problems were…

  16. Delayed Self-Recognition in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Lind, Sophie E.; Bowler, Dermot M.

    2009-01-01

    This study aimed to investigate temporally extended self-awareness (awareness of one's place in and continued existence through time) in autism spectrum disorder (ASD), using the delayed self-recognition (DSR) paradigm (Povinelli et al., Child Development 67:1540-1554, 1996). Relative to age and verbal ability matched comparison children, children…

  17. Social Narrative Strategies to Support Children with Autism Spectrum Disorder

    Science.gov (United States)

    Coogle, Christan Grygas; Ahmed, Siddiq; Aljaffal, Mohammed Abdulaziz; Alsheef, Manal Yousef; Hamdi, Hamad Ali

    2018-01-01

    The purpose of this manuscript is to identify social narrative strategies that can be used to enhance the social skills of young children identified with autism spectrum disorder. We provide a description as well as scenarios describing how educators might consider using social narrative strategies. We conclude with resources to attain additional…

  18. Defining Crisis in Families of Individuals with Autism Spectrum Disorders

    Science.gov (United States)

    Weiss, Jonathan A.; Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health-related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can…

  19. Supporting Siblings of Children with Autism Spectrum Disorders

    Science.gov (United States)

    Tsao, Ling-Ling; Davenport, Randy; Schmiege, Cynthia

    2012-01-01

    Research studies have shown the importance of early intervention services for young children with autism spectrum disorders (ASD) and their families. However, most attention has been given to the effectiveness of treatments solely for children with ASDs. Because the family centered practice has been emphasized and supported by many researchers and…

  20. Brief Report: Intuitive and Reflective Reasoning in Autism Spectrum Disorder

    Science.gov (United States)

    Brosnan, Mark; Ashwin, Chris; Lewton, Marcus

    2017-01-01

    Dual Process Theory has recently been applied to Autism spectrum disorder (ASD) to suggest that reasoning by people with ASD and people with higher levels of ASD-like traits can be characterised by reduced intuitive and greater reflective processing. 26 adolescents and adults with ASD and 22 adolescent and adult controls completed an assessment of…

  1. Employment Outcomes of Vocational Rehabilitation Clients with Autism Spectrum Disorders

    Science.gov (United States)

    Alverson, Charlotte Y.; Yamamoto, Scott H.

    2017-01-01

    Research has consistently documented poor employment outcomes for young adults with autism spectrum disorder (ASD). Vocational rehabilitation (VR) services provide substantial federal and state commitments to individuals with disabilities to obtain and maintain employment. To date, little research has examined the relationship between VR services…

  2. Sensory and Attention Abnormalities in Autistic Spectrum Disorders

    Science.gov (United States)

    Liss, Miriam; Saulnier, Celine; Fein, Deborah; Kinsbourne, Marcel

    2006-01-01

    Individuals with autistic spectrum disorders (ASDs) often experience, describe and exhibit unusual patterns of sensation and attention. These anomalies have been hypothesized to result from overarousal and consequent overfocused attention. Parents of individuals with ASD rated items in three domains, "sensory overreactivity",…

  3. Evidence of Reduced Global Processing in Autism Spectrum Disorder

    Science.gov (United States)

    Booth, Rhonda D. L.; Happé, Francesca G. E.

    2018-01-01

    Frith's original notion of 'weak central coherence' suggested that increased local processing in autism spectrum disorder (ASD) resulted from reduced global processing. More recent accounts have emphasised superior local perception and suggested intact global integration. However, tasks often place local and global processing in direct trade-off,…

  4. Emotional language processing in autism spectrum disorders: a systematic review

    NARCIS (Netherlands)

    Lartseva, A.; Dijkstra, T.; Buitelaar, J.K.

    2015-01-01

    In his first description of Autism Spectrum Disorders (ASD), Kanner emphasized emotional impairments by characterizing children with ASD as indifferent to other people, self-absorbed, emotionally cold, distanced, and retracted. Thereafter, emotional impairments became regarded as part of the social

  5. Emotion Regulation in Young Children with Autism Spectrum Disorders

    Science.gov (United States)

    Berkovits, Lauren; Eisenhower, Abbey; Blacher, Jan

    2017-01-01

    There has been little research connecting underlying emotion processes (e.g., emotion regulation) to frequent behavior problems in young children with autism spectrum disorder (ASD). This study examined the stability of emotion regulation and its relationship with other aspects of child functioning. Participants included 108 children with ASD,…

  6. Parenting Behaviour among Parents of Children with Autism Spectrum Disorder

    Science.gov (United States)

    Lambrechts, Greet; Van Leeuwen, Karla; Boonen, Hannah; Maes, Bea; Noens, Ilse

    2011-01-01

    Contrary to the extensive amount of empirical findings about parental perceptions, parenting cognitions, and coping in families with a child with autism spectrum disorder (ASD), research about parenting itself is very scarce. A first goal of this study was to examine the factor structure and internal consistency of two scales to measure parenting…

  7. Pre-Eclampsia, Birth Weight, and Autism Spectrum Disorders

    Science.gov (United States)

    Mann, Joshua R.; McDermott, Suzanne; Bao, Haikun; Hardin, James; Gregg, Anthony

    2010-01-01

    Autism spectrum disorders (ASD) are primarily inherited, but perinatal or other environmental factors may also be important. In an analysis of 87,677 births from 1996 through 2002, insured by the South Carolina Medicaid program, birth weight was significantly inversely associated with the odds of ASD (OR = 0.78, p = 0.001 for each additional…

  8. A Scoping Review of Health Disparities in Autism Spectrum Disorder

    Science.gov (United States)

    Bishop-Fitzpatrick, Lauren; Kind, Amy J. H.

    2017-01-01

    Individuals with autism spectrum disorder (ASD) experience increased morbidity and decreased life expectancy compared to the general population, and these disparities are likely exacerbated for those individuals who are otherwise disadvantaged. We conducted a review to ascertain what is known about health and health system quality (e.g., high…

  9. Into the Unknown: Aging with Autism Spectrum Disorders

    Science.gov (United States)

    Perkins, Elizabeth A.; Berkman, Karen A.

    2012-01-01

    Research investigation of older adults with autism spectrum disorders (ASD) noticeably lags behind studies of children and younger adults with ASD. This article reviews the current literature regarding a range of quality of life outcomes of aging adults with ASD. Studies that have addressed life expectancy, comorbid physical and mental health…

  10. Atypical Laterality of Resting Gamma Oscillations in Autism Spectrum Disorders

    Science.gov (United States)

    Maxwell, Christina R.; Villalobos, Michele E.; Schultz, Robert T.; Herpertz-Dahlmann, Beate; Konrad, Kerstin; Kohls, Gregor

    2015-01-01

    Abnormal brain oscillatory activity has been found in autism spectrum disorders (ASD) and proposed as a potential biomarker. While several studies have investigated gamma oscillations in ASD, none have examined resting gamma power across multiple brain regions. This study investigated resting gamma power using EEG in 15 boys with ASD and 18 age…

  11. Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

    NARCIS (Netherlands)

    Zeynelabidin, Sara; Klouwer, Femke C. C.; Meijers, Joost C. M.; Suijker, Monique H.; Engelen, Marc; Poll-The, Bwee Tien; van Ommen, C. Heleen

    2017-01-01

    Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This leads to a range of symptoms, including hepatic dysfunction and coagulopathy. This study evaluated the incidence and severity of coagulopathy and the effect

  12. 2009 Autism Spectrum Disorder Research: Portfolio Analysis Report

    Science.gov (United States)

    Interagency Autism Coordinating Committee, 2011

    2011-01-01

    In 2010, the Office of Autism Research Coordination (OARC) and Acclaro Research Solutions, Inc., on behalf of the Interagency Autism Coordinating Committee (IACC), conducted a comprehensive analysis of the 2009 autism spectrum disorder (ASD) research portfolio of major Federal agencies and private organizations. This is the second annual analysis…

  13. Teaching Students with Autistic Spectrum Disorders in HE

    Science.gov (United States)

    Taylor, M. J.

    2005-01-01

    Purpose--The purpose of the research reported in this paper was to examine the type of adjustments to delivery appropriate for students with an autistic spectrum disorder in a UK higher education setting. Design/Methodology/Approach--A case study in a UK university was conducted over a two-year period. Findings--A variety of adjustments may be…

  14. Mental Health Aspects of Autistic Spectrum Disorders in Children

    Science.gov (United States)

    Skokauskas, N.; Gallagher, L.

    2012-01-01

    Background: Previous studies have reported variable and at times opposite findings on comorbid psychiatric problems in children with autistic spectrum disorders (ASD). Aims: This study aimed to examine patterns of comorbid psychiatric problems in children with ASD and their parents compared with IQ matched controls and their parents. Methods:…

  15. Neurofeedback improves executive functioning in children with autistic spectrum disorders

    NARCIS (Netherlands)

    Kouijzer, M.E.J.; Moor, J.M.H. de; Gerrits, B.J.L.; Congedo, M.; Schie, H.T. van

    2009-01-01

    Seven autistic children diagnosed with autism spectrum disorders (ASD) received a neurofeedback treatment that aimed to improve their level of executive control. Neurofeedback successfully reduced children’s heightened theta/beta ratio by inhibiting theta activation and enhancing beta activation

  16. Phonological and Visuospatial Working Memory in Autism Spectrum Disorders

    Science.gov (United States)

    Macizo, P.; Soriano, M. F.; Paredes, N.

    2016-01-01

    We evaluated phonological and visuospatial working memory (WM) in autism spectrum disorders. Autistic children and typically developing children were compared. We used WM tasks that measured phonological and visuospatial WM up to the capacity limit of each children. Overall measures of WM did not show differences between autistic children and…

  17. Iron Deficiency in Preschool Children with Autistic Spectrum Disorders

    Science.gov (United States)

    Bilgic, Ayhan; Gurkan, Kagan; Turkoglu, Serhat; Akca, Omer Faruk; Kilic, Birim Gunay; Uslu, Runa

    2010-01-01

    Iron deficiency (ID) causes negative outcomes on psychomotor and behavioral development of infants and young children. Children with autistic spectrum disorders (ASD) are under risk for ID and this condition may increase the severity of psychomotor and behavioral problems, some of which already inherently exist in these children. In the present…

  18. Transcendental meditation for autism spectrum disorders? A perspective

    Directory of Open Access Journals (Sweden)

    David O. Black

    2015-12-01

    Full Text Available Anecdotal reports suggest that Transcendental Meditation (TM may be helpful for some children and young adults with autism spectrum disorders (ASDs. In this perspective piece, we present six carefully evaluated individuals with diagnosed ASDs, who appear to have benefitted from TM, and offer some thoughts as to how this technique might help such individuals.

  19. Characterizing Sleep in Adolescents and Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Goldman, S. E.; Alder, M. L.; Burgess, H. J.; Corbett, B. A.; Hundley, R.; Wofford, D.; Fawkes, D. B.; Wang, L.; Laudenslager, M. L.; Malow, B. A.

    2017-01-01

    We studied 28 adolescents/young adults with autism spectrum disorders (ASD) and 13 age/sex matched individuals of typical development (TD). Structured sleep histories, validated questionnaires, actigraphy (4 weeks), and salivary cortisol and melatonin (4 days each) were collected. Compared to those with TD, adolescents/young adults with ASD had…

  20. College Students' Openness toward Autism Spectrum Disorders: Improving Peer Acceptance

    Science.gov (United States)

    Nevill, Rose E. A.; White, Susan W.

    2011-01-01

    One probable consequence of rising rates of autism spectrum disorder diagnosis in individuals without co-occurring intellectual disability is that more young adults with diagnoses or traits of ASD will attend college and require appropriate supports. This study sought to explore college students' openness to peers who demonstrate…

  1. Diagnostic Stability in Very Young Children with Autism Spectrum Disorders

    Science.gov (United States)

    Kleinman, Jamie M.; Ventola, Pamela E.; Pandey, Juhi; Verbalis, Alyssa D.; Barton, Marianne; Hodgson, Sarah; Green, James; Dumont-Mathieu, Thyde; Robins, Diana L.; Fein, Deborah

    2008-01-01

    Autism Spectrum Disorders (ASD) diagnosis in very young children may be delayed due to doubts about validity. In this study, 77 children received a diagnostic and developmental evaluation between 16 and 35 months and also between 42 and 82 months. Diagnoses based on clinical judgment, Childhood Autism Rating Scale, and the Autism Diagnostic…

  2. Association of Autism Spectrum Disorders and Inflammatory Bowel Disease

    Science.gov (United States)

    Lee, Maunoo; Krishnamurthy, Jayasree; Susi, Apryl; Sullivan, Carolyn; Gorman, Gregory H.; Hisle-Gorman, Elizabeth; Erdie-Lalena, Christine R.; Nylund, Cade M.

    2018-01-01

    Autism spectrum disorders (ASD) and inflammatory bowel disease (IBD) both have multifactorial pathogenesis with an increasing number of studies demonstrating gut-brain associations. We aim to examine the association between ASD and IBD using strict classification criteria for IBD. We conducted a retrospective case-cohort study using records from…

  3. Auditory Hypersensitivity in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Lucker, Jay R.

    2013-01-01

    A review of records was completed to determine whether children with auditory hypersensitivities have difficulty tolerating loud sounds due to auditory-system factors or some other factors not directly involving the auditory system. Records of 150 children identified as not meeting autism spectrum disorders (ASD) criteria and another 50 meeting…

  4. Effects of Equine Assisted Activities on Autism Spectrum Disorder

    Science.gov (United States)

    Lanning, Beth A.; Baier, Margaret E. Matyastik; Ivey-Hatz, Julie; Krenek, Nancy; Tubbs, Jack D.

    2014-01-01

    Quality of life assessments were used in this study to determine the behavioral changes of children diagnosed with autism spectrum disorder (ASD) who participated in equine assisted activities. Behavioral changes of children with ASD participating in 9 weeks of equines assisted activities (EAA) (N = 10) were compared to behavioral changes of…

  5. Sign Language Echolalia in Deaf Children with Autism Spectrum Disorder

    Science.gov (United States)

    Shield, Aaron; Cooley, Frances; Meier, Richard P.

    2017-01-01

    Purpose: We present the first study of echolalia in deaf, signing children with autism spectrum disorder (ASD). We investigate the nature and prevalence of sign echolalia in native-signing children with ASD, the relationship between sign echolalia and receptive language, and potential modality differences between sign and speech. Method: Seventeen…

  6. Language Acquisition in Autism Spectrum Disorders: A Developmental Review

    Science.gov (United States)

    Eigsti, Inge-Marie; de Marchena, Ashley B.; Schuh, Jillian M.; Kelley, Elizabeth

    2011-01-01

    This paper reviews the complex literature on language acquisition in the autism spectrum disorders (ASD). Because of the high degree of interest in ASD in the past decade, the field has been changing rapidly, with progress in both basic science and applied clinical areas. In addition, psycholinguistically-trained researchers have increasingly…

  7. Improving Empathic Communication Skills in Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Koegel, Lynn Kern; Ashbaugh, Kristen; Navab, Anahita; Koegel, Robert L.

    2016-01-01

    The literature suggests that many individuals diagnosed with Autism Spectrum Disorder (ASD) experience challenges with recognizing and describing emotions in others, which may result in difficulties with the verbal expression of empathy during communication. Thus, there is a need for intervention techniques targeting this area. Using a multiple…

  8. Use of Transcranial Magnetic Stimulation in Autism Spectrum Disorders

    Science.gov (United States)

    Oberman, Lindsay M.; Rotenberg, Alexander; Pascual-Leone, Alvaro

    2015-01-01

    The clinical, social and financial burden of autism spectrum disorder (ASD) is staggering. We urgently need valid and reliable biomarkers for diagnosis and effective treatments targeting the often debilitating symptoms. Transcranial magnetic stimulation (TMS) is beginning to be used by a number of centers worldwide and may represent a novel…

  9. Measuring Theory of Mind in Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Brewer, Neil; Young, Robyn L.; Barnett, Emily

    2017-01-01

    Deficits in Theory of Mind (ToM)--the ability to interpret others' beliefs, intentions and emotions--undermine the ability of individuals with Autism Spectrum Disorder (ASD) to interact in socially normative ways. This study provides psychometric data for the Adult-Theory of Mind (A-ToM) measure using video-scenarios based in part on Happé's…

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

    Science.gov (United States)

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

    2010-01-01

    The role played by social relationship variables (attachment security; mother-child relationship qualities) and social-cognitive capacities (theory of mind) was examined in both observed friendship behaviors and in children's descriptions of friendships (age 8-12) with high functioning children with autism spectrum disorders (HFASD) (n = 44) and…

  11. Referential Communication in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Dahlgren, Svenolof; Sandberg, Annika Dahlgren

    2008-01-01

    Referential communication was studied in children with autism spectrum disorder (ASD) including children with autism and Asperger syndrome. The aim was to study alternative explanations for the children's communicative problems in such situations. Factors studied were theory of mind, IQ, verbal ability and memory. The main results demonstrated…

  12. Brief Report: Episodic Foresight in Autism Spectrum Disorder

    Science.gov (United States)

    Hanson, Laura K.; Atance, Cristina M.

    2014-01-01

    Episodic foresight (EpF) or, the ability to imagine the future and use such imagination to guide our actions, is an important aspect of cognition that has not yet been explored in children with autism spectrum disorder (ASD). This is despite its proposed links with theory of mind (ToM) and executive function (EF), two areas found to be impaired in…

  13. Neurofeedback Improves Executive Functioning in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Kouijzer, Mirjam E. J.; de Moor, Jan M. H.; Gerrits, Berrie J. L.; Congedo, Marco; van Schie, Hein T.

    2009-01-01

    Seven autistic children diagnosed with autism spectrum disorders (ASD) received a neurofeedback treatment that aimed to improve their level of executive control. Neurofeedback successfully reduced children's heightened theta/beta ratio by inhibiting theta activation and enhancing beta activation over sessions. Following treatment, children's…

  14. Group Therapy for Anxiety in Children with Autism Spectrum Disorder

    Science.gov (United States)

    McConachie, Helen; McLaughlin, Eleanor; Grahame, Victoria; Taylor, Helen; Honey, Emma; Tavernor, Laura; Rodgers, Jacqui; Freeston, Mark; Hemm, Cahley; Steen, Nick; Le Couteur, Ann

    2014-01-01

    Aim: To investigate the acceptability and feasibility of adapted group therapy for anxiety in children with autism spectrum disorder in a pilot randomised controlled trial. Method: A total of 32 children aged 9-13 years were randomised to immediate or delayed therapy using the "Exploring Feelings" manual (Attwood, 2004). Child and parent…

  15. Attentional Shifts between Audition and Vision in Autism Spectrum Disorders

    Science.gov (United States)

    Occelli, Valeria; Esposito, Gianluca; Venuti, Paola; Arduino, Giuseppe Maurizio; Zampini, Massimiliano

    2013-01-01

    Previous evidence on neurotypical adults shows that the presentation of a stimulus allocates the attention to its modality, resulting in faster responses to a subsequent target presented in the same (vs. different) modality. People with Autism Spectrum Disorders (ASDs) often fail to detect a (visual or auditory) target in a stream of stimuli after…

  16. Sexuality Education for Adolescents and Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Tullis, Christopher A.; Zangrillo, Amanda N.

    2013-01-01

    As people with autism spectrum disorders (ASD) mature from adolescents into adults, social deficits may become more pronounced and apparent in new areas (e.g., social functioning and sexuality). Like neurotypicals, sexuality may be directly related to quality of life for people with ASD. Current practice for addressing sexuality in the ASD…

  17. Reduced Chromatic Discrimination in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Franklin, Anna; Sowden, Paul; Notman, Leslie; Gonzalez-Dixon, Melissa; West, Dorotea; Alexander, Iona; Loveday, Stephen; White, Alex

    2010-01-01

    Atypical perception in Autism Spectrum Disorders (ASD) is well documented (Dakin & Frith, 2005). However, relatively little is known about colour perception in ASD. Less accurate performance on certain colour tasks has led some to argue that chromatic discrimination is reduced in ASD relative to typical development (Franklin, Sowden, Burley,…

  18. Randomized Trial of Law Enforcement Training on Autism Spectrum Disorders

    Science.gov (United States)

    Teagardin, Jill; Dixon, Dennis R.; Smith, Marlena N.; Granpeesheh, Doreen

    2012-01-01

    The core symptoms of autism spectrum disorders (ASD) are likely to affect interactions between law enforcement officers and persons with ASD. If law enforcement officers are not trained to identify and appropriately respond to persons with ASD, it is possible that officers may exacerbate a situation, resulting in unnecessary trauma, injury, or…

  19. Physical Aggression in Children and Adolescents with Autism Spectrum Disorders

    Science.gov (United States)

    Mazurek, Micah O.; Kanne, Stephen M.; Wodka, Ericka L.

    2013-01-01

    Aggression is a clinically significant problem for many children and adolescents with autism spectrum disorders (ASD). However, there have been few large-scale studies addressing this issue. The current study examined the prevalence and correlates of physical aggression in a sample of 1584 children and adolescents with ASD enrolled in the Autism…

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

    Science.gov (United States)

    Braddock, Barbara A.; Armbrecht, Eric S.

    2016-01-01

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

  1. Sexual Knowledge and Victimization in Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Brown-Lavoie, S. M.; Viecili, M. A.; Weiss, J. A.

    2014-01-01

    There is a significant gap in understanding the risk of sexual victimization in individuals with autism spectrum disorders (ASD) and the variables that contribute to risk. Age appropriate sexual interest, limited sexual knowledge and experiences, and social deficits, may place adults with ASD at increased risk. Ninety-five adults with ASD and 117…

  2. Longitudinally extensive optic neuritis in neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Pula, John H; Kattah, Jorge C; Keung, Bonnie; Wang, Huaping; Daily, Jennifer

    2014-10-15

    Neuomyelitis optica, sarcoid, and multiple sclerosis can all cause optic neuritis. Further means of distinguishing the causes of optic neuritis among these etiologies would be valuable for the clinician. This is a retrospective, cohort study from a single university based hospital and neuro-ophthalmology clinic. Blinded interpretation of orbit MRIs was performed on patients with acute optic neuritis from multiple sclerosis (n=25), sarcoid (n=5) and neuromyelitis optica spectrum disorder (n=6). A length of >40 mm anterior visual pathway enhancement distinguished neuromyelitis optica spectrum disorder from multiple sclerosis (p=0.0376). No statistically significant differences were found for presence of pain or papillitis, however there was a trend for bilateral involvement and chiasmal involvement in neuromyelitis optica spectrum disorder compared to multiple sclerosis. In acute optic neuritis, enhancing anterior visual pathway lesion length >40 mm helps differentiate neuromyelitis optica spectrum disorder from multiple sclerosis. This degree of involvement can be considered longitudinally extensive optic neuritis. Further characterization is necessary as this degree of enhancement occurs in other clinical syndromes besides neuromyelitis optica. Copyright © 2014 Elsevier B.V. All rights reserved.

  3. Early Onset Bipolar Spectrum Disorder: Psychopharmacological, Psychological, and Educational Management

    Science.gov (United States)

    McIntosh, David E.; Trotter, Jeffrey S.

    2006-01-01

    Although published research continues to advocate medication as the first line of treatment for early onset bipolar spectrum disorder (EOBSD; N. Lofthouse & M.A. Fristad, 2004), preliminary research demonstrating the utility of cognitive, cognitive-behavioral, and psychoeducational therapies is promising. It appears as if future treatment of EOBSD…

  4. Teaching Physical Education to Students with Autism Spectrum Disorders

    Science.gov (United States)

    Menear, Kristi Sayers; Smith, Shannon C.

    2011-01-01

    The U.S. Centers for Disease Control and Prevention (2007) estimates that one in every 110 children is affected by an autism spectrum disorder (ASD). The prevalence of ASDs makes it very likely that every physical education teacher is teaching at least one student with an ASD. This article will provide physical educators with a brief overview of…

  5. ERP Correlates of Recognition Memory in Autism Spectrum Disorder

    Science.gov (United States)

    Massand, Esha; Bowler, Dermot M.; Mottron, Laurent; Hosein, Anthony; Jemel, Boutheina

    2013-01-01

    Recognition memory in autism spectrum disorder (ASD) tends to be undiminished compared to that of typically developing (TD) individuals (Bowler et al. 2007), but it is still unknown whether memory in ASD relies on qualitatively similar or different neurophysiology. We sought to explore the neural activity underlying recognition by employing the…

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

    Science.gov (United States)

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

    2011-01-01

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

  7. The Clinician Perspective on Sex Differences in Autism Spectrum Disorders

    Science.gov (United States)

    Jamison, Rene; Bishop, Somer L.; Huerta, Marisela; Halladay, Alycia K.

    2017-01-01

    Research studies using existing samples of individuals with autism spectrum disorders have identified differences in symptoms between males and females. Differences are typically reported in school age and adolescence, with similarities in symptom presentation at earlier ages. However, existing studies on sex differences are significantly limited,…

  8. Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology

    Science.gov (United States)

    Correia, F.; Café, C.; Almeida, J.; Mouga, S.; Oliveira, G.

    2015-01-01

    Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two…

  9. Accessing and Selecting Word Meaning in Autism Spectrum Disorder

    Science.gov (United States)

    Henderson, L. M.; Clarke, P. J.; Snowling, M. J.

    2011-01-01

    Background: Comprehension difficulties are commonly reported in autism spectrum disorder (ASD) but the causes of these difficulties are poorly understood. This study investigates how children with ASD access and select meanings of ambiguous words to test four hypotheses regarding the nature of their comprehension difficulties: semantic deficit,…

  10. Pediatricians' Perspectives on Identification and Diagnosis of Autism Spectrum Disorders

    Science.gov (United States)

    Finke, Erinn H.; Drager, Kathryn D. R.; Ash, Stephanie

    2010-01-01

    Qualitative interview methodology was used to investigate the perspectives and experiences of five general pediatricians who had diagnosed children with autism spectrum disorder (ASD). Information was obtained from the participants in the following areas: a) training; b) signs/symptoms of ASD; c) causes of ASD; d) well-child exams; e) first…

  11. Maternal Infection Requiring Hospitalization during Pregnancy and Autism Spectrum Disorders

    Science.gov (United States)

    Atladottir, Hjordis O.; Thorsen, Poul; Ostergaard, Lars; Schendel, Diana E.; Lemcke, Sanne; Abdallah, Morsi; Parner, Erik T.

    2010-01-01

    Exposure to prenatal infection has been suggested to cause deficiencies in fetal neurodevelopment. In this study we included all children born in Denmark from 1980, through 2005. Diagnoses of autism spectrum disorders (ASDs) and maternal infection were obtained through nationwide registers. Data was analyzed using Cox proportional hazards…

  12. Neural correlates of pragmatic language comprehension in autism spectrum disorders

    NARCIS (Netherlands)

    Tesink, C.M.J.Y.; Buitelaar, J.K.; Petersson, K.M.; Gaag, R.J. van der; Kan, C.C.; Tendolkar, I.; Hagoort, P.

    2009-01-01

    Difficulties with pragmatic aspects of communication are universal across individuals with autism spectrum disorders (ASDs). Here we focused on an aspect of pragmatic language comprehension that is relevant to social interaction in daily life: the integration of speaker characteristics inferred from

  13. Neural correlates of pragmatic language comprehension in autism spectrum disorders.

    NARCIS (Netherlands)

    Tesink, C.M.J.Y.; Buitelaar, J.K.; Petersson, K.M.; Gaag, R.J. van der; Kan, C.C.; Tendolkar, I.; Hagoort, P.

    2009-01-01

    Difficulties with pragmatic aspects of communication are universal across individuals with autism spectrum disorders (ASDs). Here we focused on an aspect of pragmatic language comprehension that is relevant to social interaction in daily life: the integration of speaker characteristics inferred from

  14. Predictors of Handwriting in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Hellinckx, Tinneke; Roeyers, Herbert; Van Waelvelde, Hilde

    2013-01-01

    During writing, perceptual, motor, and cognitive processes interact. This study explored the predictive value of several factors on handwriting quality as well as on speed in children with Autism Spectrum Disorder (ASD). Our results showed that, in this population, age, gender, and visual-motor integration significantly predicted handwriting…

  15. Metaperception in Adolescents with and without Autism Spectrum Disorder

    Science.gov (United States)

    Usher, Lauren V.; Burrows, Catherine A.; Messinger, Daniel S.; Henderson, Heather A.

    2018-01-01

    This study compared how adolescents with and without autism spectrum disorder (ASD) evaluated unfamiliar peers (i.e., perceptions), as well as how adolescents believed they were evaluated by peers (i.e., metaperceptions). The Perceptions and Metaperceptions Questionnaire was designed to quantify perceptions and metaperceptions following a live…

  16. Psychophysiological Associations with Gastrointestinal Symptomatology in Autism Spectrum Disorder

    OpenAIRE

    Ferguson, Bradley J.; Marler, Sarah; Altstein, Lily L.; Lee, Evon Batey; Akers, Jill; Sohl, Kristin; McLaughlin, Aaron; Hartnett, Kaitlyn; Kille, Briana; Mazurek, Micah; Macklin, Eric A.; McDonnell, Erin; Barstow, Mariah; Bauman, Margaret L.; Margolis, Kara Gross

    2016-01-01

    Autism spectrum disorder (ASD) is often accompanied by gastrointestinal disturbances, which also may impact behavior. Alterations in autonomic nervous system functioning are also frequently observed in ASD. The relationship between these findings in ASD is not known. We examined the relationship between gastrointestinal symptomatology, examining upper and lower gastrointestinal tract symptomatology separately, and autonomic nervous system functioning, as assessed by heart rate variability and...

  17. Teaching Motor Skills to Individuals with Autism Spectrum Disorders

    Science.gov (United States)

    Todd, Teri

    2012-01-01

    Autism Spectrum Disorders (ASDs) are commonly characterized by deficits in the social and communication domains. However, up to 80 percent of this population also have poor motor skills. Individuals with an ASD experience difficulties in motor planning, imitation, and postural stability. A better understanding of these deficits and of strategies…

  18. Motor Skills of Toddlers with Autism Spectrum Disorders

    Science.gov (United States)

    Lloyd, Meghann; MacDonald, Megan; Lord, Catherine

    2013-01-01

    With increased interest in the early diagnosis and treatment of children with autism spectrum disorders (ASD), more attention has been called to the motor skills of very young children with ASD. This study describes the gross and fine motor skills of a cross-sectional group of 162 children with ASD between the ages of 12 and 36 months, as well as…

  19. Motor Skill Assessment in Autism Spectrum Disorder: A Case Study

    Science.gov (United States)

    Liu, Ting; Breslin, Casey M.; ElGarhy, Sayed

    2017-01-01

    Without proper motor assessment, children with autism spectrum disorder may be placed in educational settings that are inappropriate for their motor abilities. However, many practitioners find it challenging to choose which assessment to use to assess these children, especially with the number of instruments available. The purpose of this study…

  20. Sex Differences in Arab Children with Autism Spectrum Disorders

    Science.gov (United States)

    Amr, Mostafa; Raddad, Dahoud; El-Mehesh, Fatima; Mahmoud, El-Hassanin; El-Gilany, Abdel-Hady

    2011-01-01

    Although autism spectrum disorders (ASD) prevalence is higher in males than females in Arab countries, few studies address sex differences in autistic symptoms and coexiting behavioral problems. A total of 37 boys and 23 girls recruited from three Arab countries (Egypt, Saudi Arabia, Jordan) matched for age and IQ. They were compared using Indian…

  1. An Ecosystem Approach to Employment and Autism Spectrum Disorder

    Science.gov (United States)

    Nicholas, David B.; Mitchell, Wendy; Dudley, Carolyn; Clarke, Margaret; Zulla, Rosslynn

    2018-01-01

    Relatively little is yet known about employment readiness and elements that promote access to, and the retention of, employment for adults with autism spectrum disorder (ASD). This paper posits elements within the ecosystem of employment and ASD. The ecosystem approach locates employment among persons with ASD as inextricably linked with broader…

  2. Object Interest in Autism Spectrum Disorder: A Treatment Comparison

    Science.gov (United States)

    McDuffie, Andrea S.; Lieberman, Rebecca G.; Yoder, Paul J.

    2012-01-01

    A randomized control trial comparing two social communication treatments for children with autism spectrum disorder examined the effect of treatment on object interest. Thirty-two children, 18-60 months, were randomly assigned to the Picture Exchange Communication System (PECS) or Responsive Education and Prelinguistic Milieu Teaching (RPMT)…

  3. Minor Neurological Dysfunction in Children with Autism Spectrum Disorder

    Science.gov (United States)

    de Jong, Marianne; Punt, Marja; de Groot, Erik; Minderaa, Ruud B; Hadders-Algra, Mijna

    2011-01-01

    Aim: The aim of this study was to improve the understanding of brain function in children with autism spectrum disorder (ASD) in relation to minor neurological dysfunctions (MNDs). Method: We studied MNDs in 122 children (93 males, 29 females; mean age 8y 1mo, SD 2y 6mo) who, among a total cohort of 705 children (513 males, 192 females; mean age…

  4. Impairment in Movement Skills of Children with Autistic Spectrum Disorders

    Science.gov (United States)

    Green, Dido; Charman, Tony; Pickles, Andrew; Chandler, Susie; Loucas, Tom; Simonoff, Emily; Baird, Gillian

    2009-01-01

    Aim: We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range. Method: Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n=101: 89 males,12 females; mean…

  5. Cognitive-Behavioral Therapy for Children with Autism Spectrum Disorders

    Science.gov (United States)

    Rotheram-Fuller, Erin; MacMullen, Laura

    2011-01-01

    Autism spectrum disorders (ASD) represent a continuum of cognitive and social problems that vary considerably in both impact and presentation for each child affected. Although successful interventions have been developed that target specific skill deficits often exhibited by children with autism, many of those interventions are exclusively…

  6. Special Education of Children with Fetal Alcohol Spectrum Disorder

    Science.gov (United States)

    Popova, Svetlana; Lange, Shannon; Burd, Larry; Nam, Seungree; Rehm, Jürgen

    2016-01-01

    The current study aimed to estimate the cost associated with special education among children (5 to 14 years) with Fetal Alcohol Spectrum Disorder (FASD) in elementary and middle school by sex, age group, and province and territory in Canada. It was estimated that there were 6,520 students with FASD receiving special education in Canada in…

  7. Anger in Children with Autism Spectrum Disorder: Parent's Perspective

    Science.gov (United States)

    Ho, Betty P. V.; Stephenson, Jennifer; Carter, Mark

    2012-01-01

    Anger related behaviours such as aggression are known to be an area of difficulty for children with autism spectrum disorders (ASD). A national internet forum for parents of children with ASD was selected out of other similar forums from six English speaking countries. Information about the angry episodes of 121 children with ASD as described by…

  8. Characteristics of Autism Spectrum Disorder in Cornelia de Lange Syndrome

    Science.gov (United States)

    Moss, Jo; Howlin, Patricia; Magiati, Iliana; Oliver, Chris

    2012-01-01

    Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in…

  9. Autism Spectrum Disorders and Sibling Relationships: Research and Strategies

    Science.gov (United States)

    Beyer, Julia F.

    2009-01-01

    Significant attention has been paid in the literature to sibling relationships and the effects of birth order, family size, and gender on such relationships. Although these are important areas to study, there is relatively little research on the effects of autism spectrum disorders (ASD) on sibling relationships. The existent research identifies…

  10. Bullying Prevalence in Students with Autism Spectrum Disorder

    Science.gov (United States)

    Campbell, Marilyn; Hwang, Yoon-Suk; Whiteford, Chrystal; Dillon-Wallace, Julie; Ashburner, Jill; Saggers, Beth; Carrington, Suzanne

    2017-01-01

    All forms of bullying, physical, verbal, social, and cyber, are prevalent among youth worldwide. An especially vulnerable population for involvement in bullying is students with an autism spectrum disorder (ASD). Although there are some studies that have investigated bullying in these students, many of these are beset by methodological issues. We…

  11. Individualized Education Programs for Youth with Autism Spectrum Disorders

    Science.gov (United States)

    Wilczynski, Susan M.; Menousek, Kathryn; Hunter, Melissa; Mudgal, Dipti

    2007-01-01

    Children with Autism Spectrum Disorders (ASD) present with a broad array of deficits and excesses that require educational intervention. The Individualized Education Program (IEP) serves as the blueprint for educational intervention but it can sometimes be difficult to identify which goals and objectives should be addressed with this population.…

  12. What Do Parents of Children with Autism Spectrum Disorders Think?

    Science.gov (United States)

    Thompson, Catherine Creighton

    2014-01-01

    The purpose of this mixed methods study was to better understand the perspectives of parents with children who are diagnosed with autism spectrum disorders regarding the Individualized Education Program (IEP) process, and interventions implemented to help their child meet IEP goals. The web-based survey included both closed and open-ended items.…

  13. Toward early markers for Autism Spectrum Disorder using eye tracking

    NARCIS (Netherlands)

    Hessels, R.S.|info:eu-repo/dai/nl/374642001

    2017-01-01

    The goal of this dissertation was to explore two possible early markers of Autism Spectrum Disorder (ASD): visual search superiority, and gaze behavior during face perception. These possible markers were explored as they pertain to both the social deficits in ASD (gaze during face perception) and

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  15. Parental Rheumatoid Arthritis and Autism Spectrum Disorders in Offspring

    DEFF Research Database (Denmark)

    Rom, Ane Lilleøre; Wu, Chunsen; Olsen, Jørn

    2018-01-01

    Objective Maternal rheumatoid arthritis (RA) has been associated with an increased risk of autism spectrum disorder (ASD) in the offspring. We assessed the potential influence of both maternal and paternal RA on the risk of ASD in offspring to disentangle the influence of genetic inheritance from...

  16. Theory of Mind, linguistic recursion and autism spectrum disorder

    DEFF Research Database (Denmark)

    Polyanskaya, Irina; Blackburn, Patrick Rowan; Braüner, Torben

    2017-01-01

    In this paper we give the motivation for and discuss the design of an experiment investigating whether the acquisition of linguistic recur-sion helps children with Autism Spectrum Disorder (ASD) develop second-order false belief skills. We first present the relevant psycho-logical concepts (in...

  17. Music therapy for people with autism spectrum disorder

    DEFF Research Database (Denmark)

    Geretsegger, Monika; Elefant, Cochavit; Mössler, Karin

    2014-01-01

    Background The central impairments of people with autism spectrum disorder (ASD) affect social interaction and communication. Music therapy uses musical experiences and the relationships that develop through them to enable communication and expression, thus attempting to address some of the core...

  18. Neonatal chemokine levels and risk of autism spectrum disorders

    DEFF Research Database (Denmark)

    Abdallah, Morsi; Larsen, Nanna; Grove, Jakob

    2013-01-01

    A potential role of chemokines in the pathophysiology of Autism Spectrum Disorders (ASDs) has been previously suggested. In a recent study we examined levels of three inflammatory chemokines (MCP-1, MIP-1a and RANTES) in samples of amniotic fluid of children diagnosed later in life with ASD...

  19. Perspectives of University Students with Autism Spectrum Disorder

    Science.gov (United States)

    Anderson, Anastasia H.; Carter, Mark; Stephenson, Jennifer

    2018-01-01

    Students with autism spectrum disorder (ASD) are at heightened risk of post-secondary educational failure and account for approximately 1% of students in post-secondary education. Findings from an on-line survey of students with ASD attending university in Australian are reported in this study. Respondents indicated high rates of academic and…

  20. Driving Behaviour Profile of Drivers with Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    Chee, Derserri Y.; Lee, Hoe C.; Patomella, Ann-Helen; Falkmer, Torbjörn

    2017-01-01

    The symptomatology of autism spectrum disorder (ASD) can make driving risky, but little is known about the on-road driving behaviour of individuals with ASD. This study assessed and compared the on-road driving performance of drivers with and without ASD, and explored how the symptomatology of ASD hinders or facilitates on-road driving…

  1. Children with autism spectrum disorder show pronoun reversals in interpretation

    NARCIS (Netherlands)

    Overweg, Jessica; Hartman, C.A.; Hendriks, Petra

    Pronoun reversals, saying you when meaning I, in children with autism spectrum disorder (ASD) are generally viewed as manifesting in early development and speech production only. This study investigates pronoun reversals in later development (age 6–12) in interpretation in 48 Dutch-speaking children

  2. Trends and Topics in Autism Spectrum Disorders Research

    Science.gov (United States)

    Matson, Johnny L.; LoVullo, Santino V.

    2009-01-01

    The field of autism spectrum disorders (ASDs) is expanding at an exponential rate. New topics for study are forming and journals are emerging rapidly to handle the ever-increasing volume of publications. This study was undertaken to provide an overview of past and current research trends. Representative studies were evaluated for type of content…

  3. Resting-State Oscillatory Activity in Autism Spectrum Disorders

    Science.gov (United States)

    Cornew, Lauren; Roberts, Timothy P. L.; Blaskey, Lisa; Edgar, J. Christopher

    2012-01-01

    Neural oscillatory anomalies in autism spectrum disorders (ASD) suggest an excitatory/inhibitory imbalance; however, the nature and clinical relevance of these anomalies are unclear. Whole-cortex magnetoencephalography data were collected while 50 children (27 with ASD, 23 controls) underwent an eyes-closed resting-state exam. A Fast Fourier…

  4. Cradling bias is absent in children with autism spectrum disorders ...

    African Journals Online (AJOL)

    Objective: This study investigated relations among empathy and cradling bias in children diagnosed with autism spectrum disorders (ASDs). Method: Twenty children with ASDs and 20 typically developing (TD) children, aged 5–15 years old, cradled a doll as if it were an infant s/he was putting to sleep on three separate ...

  5. Chelation Treatment for Autism Spectrum Disorders: A Systematic Review

    Science.gov (United States)

    Davis, Tonya N.; O'Reilly, Mark; Kang, Soyeon; Lang, Russell; Rispoli, Mandy; Sigafoos, Jeff; Lancioni, Giulio; Copeland, Daelynn; Attai, Shanna; Mulloy, Austin

    2013-01-01

    Chelation treatment is used to eliminate specific metals from the body, such as mercury. It has been hypothesized that mercury poisoning may be a factor in autism and data suggest that perhaps 7% of individuals with autism spectrum disorder (ASD) have received chelation treatment. It would therefore seem timely to review studies investigating the…

  6. Comprehension of metaphors in patients with schizophrenia-spectrum disorders.

    Science.gov (United States)

    Mossaheb, Nilufar; Aschauer, Harald N; Stoettner, Susanne; Schmoeger, Michaela; Pils, Nicole; Raab, Monika; Willinger, Ulrike

    2014-05-01

    Metaphors, mainly proverbs and idiomatic expressions of ordinary life are commonly used as a model for concretism. Previous studies have shown impaired metaphor comprehension in patients with schizophrenia-spectrum disorders compared to either psychiatric or non-psychiatric control subject. The aim of this study was to detect possible quantitative differences in figurative processing between patients with schizophrenia-spectrum disorders and healthy controls. In order to analyse possible dissociations of different aspects of figurative speech, a range of metaphor tasks was used to distinguish between recognition of familiar metaphors, paraphrasing the meaning of the latter and generating novel metaphors: we used a standard proverb test for conventional metaphors consisting of a multiple-choice and a paraphrasing task, and the Metaphoric Triads Test for the assessment of novel metaphors. We included 40 patients with schizophrenia-spectrum disorders and 43 healthy control subjects. Our results showed that patients had impaired figurative speech processing regarding novel and conventional metaphors. Associations with cognitive functions were detected. Performance on the paraphrasing task was associated with the severity of negative symptoms. We conclude that patients with schizophrenia-spectrum disorders do exhibit impairments in the recognition and paraphrasing of conventional and the generation of novel metaphors and that some cognitive domains as well the extent of negative symptoms might be associated with these deficits. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. DSM-5 Autism Spectrum Disorder Symptomology in Fictional Picture Books

    Science.gov (United States)

    Kelley, Jane E.; Cardon, Teresa A.; Algeo-Nichols, Dana

    2015-01-01

    In the last decade, schools have seen an increasing number of children with autism spectrum disorder (ASD) and the current estimated average of children in the United States who are diagnosed with an ASD is one out of 68 (Centers for Disease Control and Prevention, 2014). One way for educators and elementary students to learn about ASD is through…

  8. Bullying Experiences among Children and Youth with Autism Spectrum Disorders

    Science.gov (United States)

    Cappadocia, M. Catherine; Weiss, Jonathan A.; Pepler, Debra

    2012-01-01

    Few studies have investigated bullying experiences among children diagnosed with autism spectrum disorders (ASD); however, preliminary research suggests that children with ASD are at greater risk for being bullied than typically developing peers. The aim of the current study was to build an understanding of bullying experiences among children with…

  9. Assessment of Fear in Children with an Autism Spectrum Disorder

    Science.gov (United States)

    Turner, Laura B.; Romanczyk, Raymond G.

    2012-01-01

    Although intense fears have been reported in up to 64% of children with an autism spectrum disorder (ASD), little is known about the phenomenology of fear in this population. This study assessed the relationship between fear and core symptoms of autism in children with an ASD. In Phase I of this study, parents of 41 children with an ASD completed…

  10. Psychiatry Trainees' Training and Experience in Fetal Alcohol Spectrum Disorders

    Science.gov (United States)

    Eyal, Roy; O'Connor, Mary J.

    2011-01-01

    Background/Objective: Alcohol is a teratogen. Fetal alcohol spectrum disorders (FASDs) affect about 1% of live births, causing severe impairment. Individuals affected by FASDs are overrepresented in psychiatric settings. This study reports on the education and experience of psychiatry trainees in approaching FASDs. Method: Data were collected from…

  11. Psychiatric interventions for AIDS-spectrum disorders.

    Science.gov (United States)

    Perry, S W; Markowitz, J

    1986-10-01

    Although the medical and psychosocial problems posed by acquired immune deficiency syndrome (AIDS) are unique, interventions to treat AIDS-related psychiatric disorders are currently available. The depression, delirium, and denial that occur in medically hospitalized patients with AIDS respond to standard psychotherapeutic and psychopharmacological approaches. Outpatients with AIDS or AIDS-related complex benefit from clarification, abreaction, and support if the therapist accepts the regression associated with the sick role, focuses initially on somatic rather than on psychological concerns, and overcomes unwarranted fears of contagion. Patients with AIDS-related dementia are helped considerably by early diagnosis and planning, and patients with antibodies to the AIDS virus require a psycho-educational approach that includes stress inoculation and problem-solving techniques. The authors describe the above interventions as well as common countertransference responses that impede their implementation.

  12. Clinical Spectrum of Disorders of Sexual Differentiation

    International Nuclear Information System (INIS)

    Rehman, U. L.; Ahsan, T.; Jabeen, R.; Zehra, F.

    2016-01-01

    Objective: To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. Study Design: Observational study. Place and Duration of Study: The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from July 2012 to July 2014. Methodology: Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data. Results: A total of 48 patients registered in the study with mean age of 19.9 ± 8 years. Female gender was assigned to 28 (58.3 percentage) of which 8 (28.57 percentage) had genital ambiguity. Male gender was assigned to 20 (41.66 percentage) patients at the time of birth and 7 (35 percentage) of them had ambiguous genitalia. Karyotyping could be done in 36 (75 percentage) patients of which 17 (47.2 percentage) were females and 19 (52.7 percentage) were males. Karyotypic gender of the 19 (48.57 percentage) male patients was 46 XX, 46 XY and 47 XXY; in 4 (21.05 percentage), 5 (26.3 percentage) and 10 (52.6 percentage) patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 (47.42 percentage) female patients were 46 XX, 46 XY and 45 X0; in 5 (29.4 percentage), 3 (17.64 percentage) and 9 (52.9 percentage) patients, respectively. Conclusion: Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative. (author)

  13. Clinical Spectrum of Disorders of Sexual Differentiation.

    Science.gov (United States)

    Rehman, Urooj Lal; Ahsan, Tasnim; Jabeen, Rukhshanda; Zehra, Fatima

    2016-03-01

    To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. Observational study. The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from July 2012 to July 2014. Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data. A total of 48 patients registered in the study with mean age of 19.9 ±8 years. Female gender was assigned to 28 (58.3%) of which 8 (28.57%) had genital ambiguity. Male gender was assigned to 20 (41.66%) patients at the time of birth and 7 (35%) of them had ambiguous genitalia. Karyotyping could be done in 36 (75%) patients of which 17 (47.2%) were females and 19 (52.7%) were males. Karyotypic gender of the 19 (48.57%) male patients was 46 XX, 46 XY and 47 XXY; in 4 (21.05%), 5 (26.3%) and 10 (52.6%) patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 (47.42%) female patients were 46 XX, 46 XY and 45 X0; in 5 (29.4%), 3 (17.64%) and 9 (52.9%) patients, respectively. Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative.

  14. Autism spectrum symptoms in children with neurological disorders

    Directory of Open Access Journals (Sweden)

    Ryland Hilde K

    2012-11-01

    Full Text Available Abstract Background The aims of the present study were to assess symptoms associated with an autism spectrum disorder (ASD in children with neurological disorders as reported by parents and teachers on the Autism Spectrum Screening Questionnaire (ASSQ, as well as the level of agreement between informants for each child. Methods The ASSQ was completed by parents and teachers of the 5781 children (11–13 years who participated in the second wave of the Bergen Child Study (BCS, an on-going longitudinal population-based study. Out of these children, 496 were reported to have a chronic illness, including 99 whom had a neurological disorder. The neurological disorder group included children both with and without intellectual disabilities. Results Children with neurological disorders obtained significantly higher parent and teacher reported ASSQ scores than did non-chronically ill children and those with other chronic illnesses (p Conclusions The ASSQ identifies a high rate of ASD symptoms in children with neurological disorders, and a large number of children screened in the positive range for ASD. Although a firm conclusion awaits further clinical studies, the present results suggest that health care professionals should be aware of potential ASD related problems in children with neurological disorders, and should consider inclusion of the ASSQ or similar screening instruments as part of their routine assessment of this group of children.

  15. Sleep and gastrointestinal disturbances in autism spectrum disorder in children.

    Science.gov (United States)

    Klukowski, Mark; Wasilewska, Jolanta; Lebensztejn, Dariusz

    2015-01-01

    Autism spectrum disorder (ASD), a neurodevelopmental disorder with a prevalence of 1 in 68 children, commonly presents with comorbid conditions which include sleep disorders. Sleep disorders reported in ASD include, among others, increased bedtime resistance, insomnia, parasomnia, sleep disordered breathing, morning rise problems, and daytime sleepiness. Polysomnography studies show that children with ASD have altered sleep architecture including shorter total sleep time and longer sleep latency than typically developing peers. Sleep-related problems have been shown to affect overall autism scores, social skills decits, stereotypic behavior, and cognitive performance. Additionally, problematic sleep in children with ASD has been associated with higher levels of parental stress. Underlying causes specically related to sleep disorders are not fully known. Gastrointestinal (GI) disorders are commonly associated with sleep problems in these patients. Children with ASD and GI symptoms have been found to have a higher prevalence of sleep disturbances compared with typically developing peers who do not have GI symptoms. Treatment approaches to children with sleep disorders are varied and range from lifestyle modications and behavioral interventions to drug therapies and surgical interventions. Physicians should take into account GI disorders as possible underlying causes of sleep-related problems in children with ASD. Therapeutic interventions should begin with less invasive methods before progressing to more invasive options such as pharmacotherapy and should be based on medical indications in order to provide effective care while minimizing potential adverse health effects. Evidence-based studies concerning GI and sleep disorders in children with ASD are limited and further studies are warranted.

  16. Proteomic explorations of autism spectrum disorder.

    Science.gov (United States)

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

    2017-09-01

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

  17. Help across the spectrum: a developmental pediatrician's perspective on diagnosing and treating autism spectrum disorders.

    Science.gov (United States)

    Copeland, Linda

    2012-01-01

    Autism spectrum disorders (ASD), a group of neurodevelopmental disorders characterized by marked deficits in social interaction and communication with unusually restricted interests, have a tremendous impact on society and are increasingly being diagnosed. Increased developmental screening, use of standardized diagnostic tests, and a broadening of Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 2000) criteria might account for the increased incidence. Evidence-based treatments for children with ASD, reviewed by the National Standards Project, are primarily behavioral interventions with foundations in the sciences of applied behavior analysis and developmental psychology and emphasize improved functional communication and social reciprocity.

  18. Lessons learned from studying syndromic autism spectrum disorders.

    Science.gov (United States)

    Sztainberg, Yehezkel; Zoghbi, Huda Y

    2016-10-26

    Syndromic autism spectrum disorders represent a group of childhood neurological conditions, typically associated with chromosomal abnormalities or mutations in a single gene. The discovery of their genetic causes has increased our understanding of the molecular pathways critical for normal cognitive and social development. Human studies have revealed that the brain is particularly sensitive to changes in dosage of various proteins from transcriptional and translational regulators to synaptic proteins. Investigations of these disorders in animals have shed light on previously unknown pathogenic mechanisms leading to the identification of potential targets for therapeutic intervention. The demonstration of reversibility of several phenotypes in adult mice is encouraging, and brings hope that with novel therapies, skills and functionality might improve in affected children and young adults. As new research reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there will be opportunities for shared therapeutics for this class of conditions.

  19. Voice Patterns in Children with Autism Spectrum Disorder

    DEFF Research Database (Denmark)

    Fusaroli, Riccardo; Cantio, Cathriona; Bilenberg, Niels

    Background: Individuals with autism spectrum disorder (ASD) tend to have atypical modulation of speech, often described as awkward, monotone, or sing-songy [1-3]. The patterns may be one of the most robust and fast signals of social communication deficits in ASD [4, 5]. However, it has proven...... spectrum disorders, Journal of autism and developmental disorders, 35 (2005) 861–869. [5] R.B. Grossman, H. Tager-Flusberg, Quality matters! Differences between expressive and receptive non-verbal communication skills in children with ASD, Res Autism Spect Dis, 6 (2012) 1150-1155. [6] R. Fusaroli, D. Bang......’s syndrome. Objectives: We systematically quantify and explore speech patterns in Danish children (8-12 years) with and without autism. We employ traditional and non-linear techniques measuring the structure (regularity and complexity) of speech behavior (i.e. fundamental frequency, use of pauses, speech...

  20. Self-harm in patients with schizophrenia spectrum disorders.

    Science.gov (United States)

    Mork, Erlend; Mehlum, Lars; Barrett, Elizabeth A; Agartz, Ingrid; Harkavy-Friedman, Jill M; Lorentzen, Steinar; Melle, Ingrid; Andreassen, Ole A; Walby, Fredrik A

    2012-01-01

    This study describes the prevalence, clinical characteristics, and gender profile of self-harm in a cross-sectional sample of 388 patients with schizophrenia spectrum disorders. All patients were interviewed and assessed with respect to lifetime self-harm and relevant clinical variables. An overall of 49% of the patients reported self-harm which was associated with female gender, having had a depressive episode, younger age at psychosis onset, alcohol abuse or dependence, current suicidality, awareness of illness, and low adherence to prescribed medication. Higher awareness of having a mental disorder was associated with self-harm in men only, while emotional dysregulation was associated with self-harm in women only. We conclude that while self-harm in patients with schizophrenia spectrum disorders is highly prevalent in both genders, risk factors in men and women differ in several important ways.

  1. ESPECTRA: Searching the Bipolar Spectrum in Eating Disorder patients

    Directory of Open Access Journals (Sweden)

    Moreno Ricardo A

    2011-04-01

    Full Text Available Abstract Background Bipolar Disorder (BD is a chronic, recurrent and highly prevalent illness. Despite the need for correct diagnosis to allow proper treatment, studies have shown that reaching a diagnosis can take up to ten years due to the lack of recognition of the broader presentations of BD. Frequent comorbidities with other psychiatric disorders are a major cause of misdiagnosis and warrant thorough evaluation. Methods/Design ESPECTRA (Occurrence of Bipolar Spectrum Disorders in Eating Disorder Patients is a single-site cross-sectional study involving a comparison group, designed to evaluate the prevalence of bipolar spectrum in an eating disorder sample. Women aged 18-45 years will be evaluated using the SCID-P and Zurich criteria for diagnosis and the HAM-D, YOUNG, SCI-MOODS, HCL-32, BIS-11, BSQ, WHOQoL and EAS instruments for rating symptoms and measuring clinical correlates. Discussion The classificatory systems in psychiatry are based on categorical models that have been criticized for simplifying the diagnosis and leading to an increase in comorbidities. Some dimensional approaches have been proposed aimed at improving the validity and reliability of psychiatric disorder assessments, especially in conditions with high rates of comorbidity such as BD and Eating Disorder (ED. The Bipolar Spectrum (BS remains under-recognized in clinical practice and its definition is not well established in current diagnostic guidelines. Broader evaluation of psychiatric disorders combining categorical and dimensional views could contribute to a more realistic understanding of comorbidities and help toward establishing a prognosis.

  2. Visual Symptoms in Adults with Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    DR Simmons

    2012-07-01

    Full Text Available Autism Spectrum Disorders (ASDs are common developmental disorders thought to affect more than 1% of the UK population (Baird et al, 2006, The Lancet 368, 210. Whilst the current official diagnostic criteria for ASD concentrate on signs and symptoms associated with social behaviour, it is also well known that sensory difficulties are a major factor in the presentation of this condition (Simmons et al, 2009, Vision Research 49, 2705. Over the past few years we have been investigating these sensory symptoms of ASD using a combination of questionnaire and focus group data, with the aim of clarifying precisely what they are. Concentrating on the visual symptoms, our questionnaire data revealed that individuals with higher levels of autistic traits complained of more visual symptoms than those with lower trait levels. Specific issues highlighted included problems with bright light, especially artificial lighting and, more specifically, flicker from fluorescent lighting (a particular problem in supermarkets. Some individuals also complained of specific colours in artificial lights. Note that the symptoms associated with these aversions could be particularly strong and involve headache and nausea. The focus group (n = 6 of adults with ASD revealed more detail about these issues. It became clear that low-frequency visual flicker, once noticed, can be hard to divert attention from. Also, seeing certain colours (eg, red would “hurt”. Another symptom reported by a number of individuals is distress caused by strongly repetitive patterns like shelving or grids. General sensory issues highlighted by the focus group included the importance of having control over sensory stimulation in order to reduce sensory stress and how certain types of sensory stimulation could be calming in some situations (although none of our sample reported visual calming experiences other than seeking out natural lighting. Our data provide a fascinating insight into the complex

  3. Transition from Pervasive Developmental Disorders to Autism Spectrum Disorder: Proposed Changes for the Upcoming DSM-5

    Directory of Open Access Journals (Sweden)

    Banu Tortamis Ozkaya

    2013-06-01

    Full Text Available American Psychiatry Assosiation has scheduled to release The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5 in May 2013. According to the main changes being proposed about autism, there will be one unified Autism Spectrum Disorder diagnosis in the DSM-5 classification. This unified diagnosis will eliminate the distinct diagnostic categories under Pervasive Developmental Disorders in the DSM-IV-TR, namely autistic disorder, asperger syndrome, pervasive developmental disorder-not otherwise specified, and childhood disintegrative disorder. Rett syndrome will be excluded from autism spectrum disorder due to its genetic basis. In addition, severity of symptoms will be measured among individuals with autism spectrum disorder based on the support level required due to the impairment in their lives. The basic rationale behind this revision is that it is better to conceptualize autism as a spectrum including various individuals whose symptoms in different developmental areas range from mild to severe. It is aimed to increase the specificity of autism diagnosis by using one single diagnostic category with its specified severity rather than differentiating several subtypes. The major concern raised over the DSM-5 proposal has been the possibility that some of the individuals who were diagnosed with pervasive developmental disorder according to the DSM-IV-TR might not get a diagnosis in this new system. After the DSM-5 is released, clinical, legal, and educational rearrengements regarding the use of new autism spectrum disorder diagnostic criteria are expected to accelerate worldwide and in Turkey. This paper aims to review briefly the upcoming autism spectrum disorder diagnosis planned to appear in the DSM-5, the rationale of the proposed revision, main critics to the DSM-5 draft that has been publicized, and some of the regulations expected to occur in practice after the changes.

  4. Spectrum of disorders leading to hyperprolactinaemia

    International Nuclear Information System (INIS)

    Gilani, S.T.A.; Khan, D.A.; Khan, F.A.; Iftikhar, G.

    2013-01-01

    Objective: To determine the frequency of disorders leading to hyperprolactinaemia (HP) in patients who reported to AFIP Rawalpindi. Study Design: Cross- sectional study. Place and duration of study: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology Rawalpindi, from January to June 2011. Patients and Methods: Patients with serum prolactin levels > 530 ml U/l in females and 360 ml U/l in males were included. Patients with hyperprolactinaemia(Hp) due to physiological causes (pregnancy and lactation etc), drug induced, irradiation and hypothyroid patients on thyroxin treatment were excluded. Seventy six samples were collected from the patients for the workup of pathological conditions. Serum prolactin, FSH, LH, estradiol, testosterone, GH, cortisol, TSH and free T4 were analysed on Immulite 2000, while LFTs and RFTs on Hitachi. Pituitary adenomas were confirmed by MRI. Results: Seventy six patients had HP due to pathological causes, 13(17%) males and 63(83%) females had mean age of 30+-11 years. Pituitary microadenoma was the cause of hyperprolactinemia in 30 (39.5%) cases, pituitary macroadenoma in 12 (15.8%), subclinical hypothyroidism in 14 (18.4%), primary hypothyroidism in 10 (13.2%), PCOS in 4 (5.3%), cirrhosis in 2 (2.6%), idiopathic in 2 (2.6%), CKD in 1 (1.3%) and acromegaly in 1 (1.3%) patient. HP was significantly correlated with size of prolactinoma and serum TSH levels (primary and subclinical hypothyroidism) (p value < 0.05). Conclusion: It is concluded that prolactinoma is the commonest pathology causing hyperprolactinemia, followed by hypothyroidism and PCOS in patients who reported to AFIP Rawalpindi. This will help in early diagnosis along with further management of the patient. (author)

  5. Callous unemotional traits, autism spectrum disorder symptoms and empathy in boys with oppositional defiant disorder or conduct disorder

    NARCIS (Netherlands)

    Pijper, Jarla; de Wied, Minet; van Rijn, Sophie; van Goozen, Stephanie; Swaab, Hanna; Meeus, W.H.J.

    2016-01-01

    This study examined additive and interactive effects of callous unemotional (CU) traits and autism spectrum disorders (ASD) symptoms in relation to trait empathy, in boys with oppositional defiant disorder (ODD) or conduct disorder (CD). Participants were 49 boys with ODD/CD, aged between 7-12

  6. Treatment of Autism Spectrum Disorder in Children and Adolescents

    Science.gov (United States)

    DeFilippis, Melissa; Wagner, Karen Dineen

    2016-01-01

    Autism spectrum disorder is a diagnosis that includes significant social communication deficits/delays along with restricted patterns of interests and behaviors. The prevalence of this diagnosis has increased over the past few decades, and it is unclear whether this is solely attributable to the increased awareness of milder forms of the disorder among medical providers. The current treatment options for the core symptoms of autism are limited to psychosocial therapies, such as applied behavior analysis. Medications have been most effective in treating the associated behavioral symptoms of autism, though studies have examined potential benefits in some of the core symptoms of autism with certain medications, especially the repetitive behaviors often seen with this diagnosis. Risperidone and aripiprazole are currently the only medications FDA approved for symptoms associated with autism spectrum disorders, targeting the irritability often seen with this diagnosis. Children and adolescents with autism spectrum disorder appear to be more susceptible to adverse effects with medications; therefore, initiation with low doses and titrating very slowly is recommended. Some complementary alternative treatments have been researched as possible treatments in autism, though evidence supporting many of these is very limited. PMID:27738378

  7. Cluster analysis of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder: clinical and genetic correlates.

    Science.gov (United States)

    Lochner, Christine; Hemmings, Sian M J; Kinnear, Craig J; Niehaus, Dana J H; Nel, Daniel G; Corfield, Valerie A; Moolman-Smook, Johanna C; Seedat, Soraya; Stein, Dan J

    2005-01-01

    Comorbidity of certain obsessive-compulsive spectrum disorders (OCSDs; such as Tourette's disorder) in obsessive-compulsive disorder (OCD) may serve to define important OCD subtypes characterized by differing phenomenology and neurobiological mechanisms. Comorbidity of the putative OCSDs in OCD has, however, not often been systematically investigated. The Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition , Axis I Disorders-Patient Version as well as a Structured Clinical Interview for Putative OCSDs (SCID-OCSD) were administered to 210 adult patients with OCD (N = 210, 102 men and 108 women; mean age, 35.7 +/- 13.3). A subset of Caucasian subjects (with OCD, n = 171; control subjects, n = 168), including subjects from the genetically homogeneous Afrikaner population (with OCD, n = 77; control subjects, n = 144), was genotyped for polymorphisms in genes involved in monoamine function. Because the items of the SCID-OCSD are binary (present/absent), a cluster analysis (Ward's method) using the items of SCID-OCSD was conducted. The association of identified clusters with demographic variables (age, gender), clinical variables (age of onset, obsessive-compulsive symptom severity and dimensions, level of insight, temperament/character, treatment response), and monoaminergic genotypes was examined. Cluster analysis of the OCSDs in our sample of patients with OCD identified 3 separate clusters at a 1.1 linkage distance level. The 3 clusters were named as follows: (1) "reward deficiency" (including trichotillomania, Tourette's disorder, pathological gambling, and hypersexual disorder), (2) "impulsivity" (including compulsive shopping, kleptomania, eating disorders, self-injury, and intermittent explosive disorder), and (3) "somatic" (including body dysmorphic disorder and hypochondriasis). Several significant associations were found between cluster scores and other variables; for example, cluster I scores were associated

  8. Fundamental Movement Skills in Children Diagnosed with Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder

    Science.gov (United States)

    Pan, Chien-Yu; Tsai, Chia-Liang; Chu, Chia-Hua

    2009-01-01

    The purpose of this study was to compare the movement skills of children with autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), and those without disabilities. Ninety-one children (ASD, n = 28; ADHD, n = 29; control, n = 34), ages 6-10 years, were of average IQ participated. After controlling for age, both ASD and…

  9. Brain Volumetric Correlates of Autism Spectrum Disorder Symptoms in Attention Deficit/Hyperactivity Disorder

    NARCIS (Netherlands)

    O'Dwyer, Laurence; Tanner, Colby; van Dongen, Eelco V.; Greven, Corina U.; Braten, Janita; Zwiersl, Marcel P.; Franke, Barbara; Oosterlaan, Jaap; Heslenfeld, Dirk; Hoekstra, Pieter; Hartman, Catharina A.; Rommelse, Nanda; Buitelaar, Jan K.

    2014-01-01

    Autism spectrum disorder (ASD) symptoms frequently occur in subjects with attention deficit/hyperactivity disord (ADHD). While there is evidence that both ADHD and ASD have differential structural correlates, no study to date has nvestigated these structural correlates within a framework that

  10. Posttraumatic Stress Disorder in Individuals with Diagnosis of Autistic Spectrum Disorders

    Science.gov (United States)

    Mehtar, Mohamad; Mukaddes, Nahit Motavalli

    2011-01-01

    Although children and adolescents with developmental disabilities are said to have higher risks of abuse than those without, trauma and Posttraumatic Stress Disorder (PTSD) are little examined in those diagnosed with Autistic Spectrum Disorders (ASDs). Our study aims to assess trauma types, prevalence, risk factors and symptoms; and PTSD in…

  11. Timing of the diagnosis of attention-deficit/ hyperactivity disorder and autism spectrum disorder

    OpenAIRE

    Yee, Michelle M.; Millichap, J. Gordon

    2015-01-01

    Investigators from the Division of Developmental Medicine and Clinical Research Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, studied the relationship between the timing of Attention Deficit Hyperactivity Disorder (ADHD) diagnosis in children with Autism Spectrum Disorder (ASD) and the age at ASD diagnosis.

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

    Science.gov (United States)

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

    2013-01-01

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

  13. Toilet training in children with a functional defecation disorder and concomitant symptoms of autism spectrum disorder

    NARCIS (Netherlands)

    Peeters, Babette; Noens, Ilse; Kuppens, Sofie; Benninga, Marc A.

    2016-01-01

    The purpose of this study was to determine the association between the presence of symptoms of Autism Spectrum Disorder (ASD) and the time of completion of toilet training in pediatric patients with a Functional Defecation Disorder (FDD). Consecutive children (4-12 yrs) presenting with FDD according

  14. Motor, emotional, and cognitive empathy in children and adolescents with autism spectrum disorder and conduct disorder

    NARCIS (Netherlands)

    Bons, D.; van den Broek, Egon; Scheepers, F.; Herpers, P.; Rommelse, N.; Buitelaar, J.K.

    It is unclear which aspects of empathy are shared and which are uniquely affected in autism spectrum disorder (ASD) and conduct disorder (CD) as are the neurobiological correlates of these empathy impairments. The aim of this systematic review is to describe the overlap and specificity of motor,

  15. Motor, Emotional, and Cognitive Empathy in Children and Adolescents with Autism Spectrum Disorder and Conduct Disorder

    Science.gov (United States)

    Bons, Danielle; van den Broek, Egon; Scheepers, Floor; Herpers, Pierre; Rommelse, Nanda; Buitelaaar, Jan K.

    2013-01-01

    It is unclear which aspects of empathy are shared and which are uniquely affected in autism spectrum disorder (ASD) and conduct disorder (CD) as are the neurobiological correlates of these empathy impairments. The aim of this systematic review is to describe the overlap and specificity of motor, emotional, and cognitive aspects of empathy in…

  16. Brief Report: Prevalence of Attention Deficit/Hyperactivity Disorder among Individuals with an Autism Spectrum Disorder

    Science.gov (United States)

    Hanson, Ellen; Cerban, Bettina M.; Slater, Chelsea M.; Caccamo, Laura M.; Bacic, Janine; Chan, Eugenia

    2013-01-01

    Currently, both the DSM-IV-TR and ICD-10 preclude the diagnosis of Attention Deficit/Hyperactivity Disorder (ADHD) in cases that present with an Autism Spectrum Disorder (ASD). This criterion will be removed in the upcoming DSM-V, but the relationship between ASD and ADHD, and in particular the prevalence of ADHD among the ASD population, remains…

  17. A Pilot Study of Abnormal Growth in Autism Spectrum Disorders and Other Childhood Psychiatric Disorders

    Science.gov (United States)

    Rommelse, Nanda N. J.; Peters, Cindy T. R.; Oosterling, Iris J.; Visser, Janne C.; Bons, Danielle; van Steijn, Daphne J.; Draaisma, Jos; van der Gaag, Rutger-Jan; Buitelaar, Jan. K.

    2011-01-01

    The aims of the current study were to examine whether early growth abnormalities are (a) comparable in autism spectrum disorders (ASD) and other childhood psychiatric disorders, and (b) specific to the brain or generalized to the whole body. Head circumference, height, and weight were measured during the first 19 months of life in 129 children…

  18. Neural mechanisms of social-emotional dysfunction in autism spectrum disorder and conduct disorder

    NARCIS (Netherlands)

    Klapwijk, E.T.

    2018-01-01

    Individuals with autism spectrum disorder (ASD) and individuals with conduct disorder (CD) are characterized by notable impairments in social-emotional functioning. In this thesis social-emotional impairments were investigated using a cognitive neuroscience perspective (i.e., studying cognitive

  19. Autism spectrum disorders in siblings of children with a developmental language disorder

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Hauschild, Karen-Marie

    2011-01-01

    Abstract Little is known about the familial characteristics of children diagnosed during childhood as having a developmental language disorder (DLD). This study aimed to investigate the prevalence of autism spectrum disorders (ASD) in siblings of probands diagnosed during childhood as having a DLD...

  20. Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring

    Science.gov (United States)

    Fairthorne, Jenny; Hammond, Geoff; Bourke, Jenny; de Klerk, Nick; Leonard, Helen

    2016-01-01

    Psychiatric disorders are more common in the mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) after the birth of their child. We aimed to assess the relationship between women's psychiatric contacts and subsequent offspring with ASD/ID. We linked three Western Australian registers to investigate pre-existing…

  1. The Michigan Autism Spectrum Questionnaire: A Rating Scale for High-Functioning Autism Spectrum Disorders

    OpenAIRE

    Ghaziuddin, M.; Welch, K.

    2013-01-01

    Although the DSM-5 has recently created a single category of autism spectrum disorder (ASD), delineation of its putative subtypes remains clinically useful. For this process, screening instruments should ideally be brief, simple, and easily available. The aim of this study is to describe the validity of one such instrument. We administered the Michigan Autism Spectrum Questionnaire (MASQ), a 10-item questionnaire, to 42 patients with ASD (age range 6–13 years, mean 9.7 years, SD 2.5, one fema...

  2. Alzheimer's Disease and Autistic Spectrum Disorder: Is there any Association?

    Science.gov (United States)

    Khan, Sarah A; Khan, Shahida A; Narendra, A R; Mushtaq, Gohar; Zahran, Solafa A; Khan, Shahzad; Kamal, Mohammad A

    2016-01-01

    Autism spectrum disorder (ASD) and Alzheimer's disease (AD) are neurodevelopmental and neurodegenerative disorders respectively, with devastating effects not only on the individual but also the society. Collectively, a number of factors contribute to the expression of ASD and AD. It is of utmost curiosity that these disorders express at different stages of life and there is an involvement of certain susceptible genes. This genetic basis makes the background of common associations like memory deficits, cognition changes, demyelination, oxidative stress and inflammation, an integral part of both disorders. Modern technology resulting in genetically modified crops and increase in gadgets emitting electromagnetic frequencies have resulted in enhanced risks for neurological dysfunctions and disorders like ASD and AD. Subsequent advances in the psychological, pharmacological, biochemical and nutritional aspects of the disorders have resulted in the development of newer therapeutic approaches. The common clinical features like language impairment, executive functions, and motor problems have been discussed along with the patho-physiological changes, role of DNA methylation, myelin development, and heavy metals in the expression of these disorders. Psychopharmacological and nutritional approaches towards the reduction and management of risk factors have gained attention from the researchers in recent years. Current major therapies either target the inflammatory pathways or reduce cellular oxidative stress. This contribution focuses on the commonalities of the two disorders.

  3. [Comorbid psychiatric disorders and differential diagnosis of patients with autism spectrum disorder without intellectual disability].

    Science.gov (United States)

    Strunz, Sandra; Dziobek, Isabel; Roepke, Stefan

    2014-06-01

    Autism spectrum conditions (ASC) without intellectual disability are often diagnosed late in life. Little is known about co-occurring psychiatric disorders and differential diagnosis of ASC in adulthood, particularly with regard to personality disorders. What kind of comorbid psychiatric disorders occur in ASC? Which are the most prevalent differential diagnoses in a sample of patients who seek autism specific clinical diagnostics? 118 adults who were referred with a presumed diagnosis of autistic disorder, were diagnosed with autism specific instruments and the prevalence of further psychiatric disorders was investigated. 59 (50%) fulfilled the criteria of ASC. 36% of the individuals with ASC fulfilled also criteria for a DSM-IV axis-I psychiatric disorder. Affective disorders (24%) and social phobia (14%) were the most prevalent comorbid disorders. The most frequent differential diagnoses were depression, social phobia, paranoid, avoidant and narcissistic personality disorder. © Georg Thieme Verlag KG Stuttgart · New York.

  4. Temperament and Character as Endophenotype in Adults with Autism Spectrum Disorders or Attention Deficit/Hyperactivity Disorder

    Science.gov (United States)

    Sizoo, Bram B.; van der Gaag, Rutger Jan; van den Brink, Wim

    2015-01-01

    Autism spectrum disorder and attention deficit/hyperactivity disorder overlap in several ways, raising questions about the nature of this comorbidity. Rommelse et al. published an innovative review of candidate endophenotypes for autism spectrum disorder and attention deficit/hyperactivity disorder in cognitive and brain domains. They found that…

  5. Temperament and character as endophenotype in adults with autism spectrum disorders or attention deficit/hyperactivity disorder

    NARCIS (Netherlands)

    Sizoo, Bram B.; van der Gaag, Rutger Jan; van den Brink, Wim

    2015-01-01

    Autism spectrum disorder and attention deficit/hyperactivity disorder overlap in several ways, raising questions about the nature of this comorbidity. Rommelse et al. published an innovative review of candidate endophenotypes for autism spectrum disorder and attention deficit/hyperactivity disorder

  6. Hormone disorder and vitamin deficiency in attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs).

    Science.gov (United States)

    Bala, Keziban Aslı; Doğan, Murat; Kaba, Sultan; Mutluer, Tuba; Aslan, Oktay; Doğan, Sekibe Zehra

    2016-09-01

    The aim of this study was to analyze thyroid hormones and antibodies, ferritin, vitamins B12 and D, adrenal and gonadal steroid levels, and celiac antibodies in children diagnosed with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Between February 2014 and July 2014, a total of 77 children and adolescents (31 girls, 46 boys) who were admitted to the Van Training and Research Hospital were included in the study. The study population was divided into three groups including ADHD (n=34), ASD (n=16), and age- and sex-matched healthy controls (n=27). The diagnosis of ADHD was made on the basis of Diagnostic and Statistical Manual of Mental Disorders - Fifth Edition (DSM-5) and DSM-4 Turkish version with the diagnostic interview and Disruptive Behavior Disorder Rating Scale (DBDRS). The diagnosis of ASD was based on the DSM-4 and DSM-5 Turkish version with the diagnostic interview and the Childhood Autism Rating Scale (CARS). The blood samples were obtained between 8:00 and 9:00 A.M. There was a statistically significant difference in vitamin B12 and D levels and ferritin values among the three groups. The ASD group had the highest ferritin and the lowest vitamins B12 and D levels. Vitamin D levels of the ADHD group were significantly lower compared to the healthy controls. Our study results highlight the importance of supplementation of vitamins B12 and D in the ASD and ADHD patients.

  7. Temperament and character as endophenotype in adults with autism spectrum disorders or attention deficit/hyperactivity disorder.

    Science.gov (United States)

    Sizoo, Bram B; van der Gaag, Rutger Jan; van den Brink, Wim

    2015-05-01

    Autism spectrum disorder and attention deficit/hyperactivity disorder overlap in several ways, raising questions about the nature of this comorbidity. Rommelse et al. published an innovative review of candidate endophenotypes for autism spectrum disorder and attention deficit/hyperactivity disorder in cognitive and brain domains. They found that all the endophenotypic impairments that were reviewed in attention deficit/hyperactivity disorder were also present in autism spectrum disorder, suggesting a continuity model with attention deficit/hyperactivity disorder as "a light form of autism spectrum disorder." Using existing data, 75 adults with autism spectrum disorder and 53 with attention deficit/hyperactivity disorder were directly compared on autistic symptoms with the autism spectrum quotient, and on the endophenotypic measure of temperament and character, using the Abbreviated (Dutch: Verkorte) Temperament and Character Inventory. Based on the hypothesis that attention deficit/hyperactivity disorder and autism spectrum disorder are disorders on a continuous spectrum, autism spectrum quotient scores and abbreviated Temperament and Character Inventory scores were expected to be different from normal controls in both disorders in a similar direction. In addition, the autism spectrum quotient and abbreviated Temperament and Character Inventory scores were expected to be closely correlated. These conditions applied to only two of the seven Abbreviated Temperament and Character Inventory scales (harm avoidance and self-directedness), suggesting that temperament and character as an endophenotype of autism spectrum disorder and attention deficit/hyperactivity disorder provides only partial support for the continuity hypothesis of autism spectrum disorder and attention deficit/hyperactivity disorder. © The Author(s) 2014.

  8. Siblings in family with child with autism spectrum disorder

    OpenAIRE

    Razpotnik, Jasna

    2012-01-01

    The very term "family with special needs" refers to a family, whose situation is specific, different and special. Within this family, the family members face with the family’s own common specialty. Usually it is this specialty which stands out the most and is the most talked about. Each member of the group takes this specialty and lives with it in his own way. In the field of autism spectrum disorder most of its attention has focused on a disorder, but less on the way how does society expe...

  9. Mirror system based therapy for autism spectrum disorders

    Institute of Scientific and Technical Information of China (English)

    Wei CHEN; Jing ZHANG; Jun DING

    2008-01-01

    This paper reviews the present theories and empirical research of autisms' cognitive research and mir-ror systems and introduces a new hypothesis about the causes of autism spectrum disorders (ASD): autistic mir-ror neuron dysfunction hypothesis. ASD subjects show obvious lack of the activation of the mirror system during the task of observation or emotional cognition. It is sig-nificant to investigate the mirror system for revealing the causes of autism and it is also helpful for developing new ways to diagnose or treat this disorder.

  10. Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.

    Science.gov (United States)

    Aydin, Halil Ibrahim

    2018-01-15

    Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems. Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders.

  11. A therapeutic skating intervention for children with autism spectrum disorder.

    Science.gov (United States)

    Casey, Amanda Faith; Quenneville-Himbeault, Gabriel; Normore, Alexa; Davis, Hanna; Martell, Stephen G

    2015-01-01

    The purpose of this study was to evaluate the effects of a highly structured therapeutic skating intervention on motor outcomes and functional capacity in 2 boys with autism spectrum disorder aged 7 and 10 years. This multiple-baseline, single-subject study assigned participants to three 1-hour skating sessions per week for 12 weeks focusing on skill and motor development. Multiple data points assessed (a) fidelity to the intervention and (b) outcomes measures including the Pediatric Balance Scale, Timed Up and Go, floor to stand, Six-Minute Walk Test, goal attainment, and weekly on-ice testing. Improvements were found in balance, motor behavior, and functional capacity by posttest with gains remaining above pretest levels at follow-up. Therapeutic skating may produce physical benefits for children with autism spectrum disorder and offer a viable, inexpensive community-based alternative to other forms of physical activity.

  12. Role of NAD, Oxidative Stress, and Tryptophan Metabolism in Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Musthafa Mohamed Essa

    2013-01-01

    Full Text Available Autism spectrum disorder (ASD is a pervasive neuro-developmental disorder characterized by impaired social interaction, reduced/absent verbal and non-verbal communication, and repetitive behavior during early childhood. The etiology of this developmental disorder is poorly understood, and no biomarkers have been identified. Identification of novel biochemical markers related to autism would be advantageous for earlier clinical diagnosis and intervention. Studies suggest that oxidative stress-induced mechanisms and reduced antioxidant defense, mitochondrial dysfunction, and impaired energy metabolism (NAD + , NADH, ATP, pyruvate, and lactate, are major causes of ASD. This review provides renewed insight regarding current autism research related to oxidative stress, mitochondrial dysfunction, and altered tryptophan metabolism in ASD.

  13. Elimination diets' efficacy and mechanisms in attention deficit hyperactivity disorder and autism spectrum disorder

    NARCIS (Netherlands)

    Ly, Verena; Bottelier, Marco; Hoekstra, Pieter J.; Vasquez, Alejandro Arias; Buitelaar, Jan K.; Rommelse, Nanda N.

    Nutrition plays an important role in neurodevelopment. This insight has led to increasing research into the efficacy of nutrition-related interventions for treating neurodevelopmental disorders. This review discusses an elimination diet as a treatment for attention deficit hyperactivity disorder and

  14. Synaptic proteins and receptors defects in autism spectrum disorders

    OpenAIRE

    Chen, Jianling; Yu, Shunying; Fu, Yingmei; Li, Xiaohong

    2014-01-01

    Recent studies have found that hundreds of genetic variants, including common and rare variants, rare and de novo mutations, and common polymorphisms have contributed to the occurrence of autism spectrum disorders (ASDs). The mutations in a number of genes such as neurexin, neuroligin, postsynaptic density protein 95 (PSD-95), SH3 and multiple ankyrin repeat domains 3 (SHANK3), synapsin, gephyrin, cadherin (CDH) and protocadherin (PCDH), thousand-and-one-amino acid 2 kinase (TAOK2), and conta...

  15. Defining crisis in families of individuals with autism spectrum disorders

    OpenAIRE

    Weiss, Jonathan A; Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health–related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can serve as a guide in delivering service to at-risk families. This study investigated the subjective experience of crisis in 155 mothers of children di...

  16. Cognitive and Neural Correlates of Aging in Autism Spectrum Disorder

    Science.gov (United States)

    2017-07-01

    this study. B. Blair Braden, PhD has been active in all of our projects on ASD and aging . She came to the lab after graduate training in...i. Aging in Autism Special Interest Group, International Society for Autism Research (INSAR). Both Drs. Baxter and Braden actively participated...AWARD NUMBER: W81XWH-15-1-0211 TITLE: Cognitive and Neural Correlates of Aging in Autism Spectrum Disorder PRINCIPAL INVESTIGATOR: Leslie C

  17. Explaining autism spectrum disorders: central coherence vs. predictive coding theories.

    Science.gov (United States)

    Chan, Jason S; Naumer, Marcus J

    2014-12-01

    In this article, we review a recent paper by Stevenson et al. (J Neurosci 34: 691-697, 2014). This paper illustrates the need to present different forms of stimuli in order to characterize the perceptual abilities of people with autism spectrum disorder (ASD). Furthermore, we will discuss their behavioral results and offer an opposing viewpoint to the suggested neuronal drivers of ASD. Copyright © 2014 the American Physiological Society.

  18. Selected forms of therapy for individuals with autism spectrum disorder

    OpenAIRE

    Dudzinska Ewa; Szymona Kinga; Pacian Anna; Kulik Teresa

    2015-01-01

    Autism spectrum disorder (ASD) is a condition of multiple origins. It is characterised by a range of behaviour patterns, in addition to disturbed social and emotional functioning. Of note, early therapy is conducive to better treatment results. A few recently discussed therapies have a particularly positive impact on children with ASD. Corbett et al. [2] proposed Sense Theatre. This involves instilling appropriate behaviours and communication patterns into the afflicted individual through act...

  19. Foetal Alcohol Spectrum Disorders and Alterations in Brain and Behaviour

    OpenAIRE

    Guerri, Consuelo; Bazinet, Alissa; Riley, Edward P.

    2009-01-01

    The term ‘Foetal Alcohol Spectrum Disorders (FASD)’ refers to the range of disabilities that may result from prenatal alcohol exposure. This article reviews the effects of ethanol on the developing brain and its long-term structural and neurobehavioural consequences. Brain imaging, neurobehavioural and experimental studies demonstrate the devastating consequences of prenatal alcohol exposure on the developing central nervous system (CNS), identifying specific brain regions affected, the range...

  20. Bone Density in Peripubertal Boys with Autism Spectrum Disorders

    Science.gov (United States)

    Neumeyer, Ann M.; Gates, Amy; Ferrone, Christine; Lee, Hang; Misra, Madhusmita

    2013-01-01

    We determined whether bone mineral density (BMD) is lower in boys with autism spectrum disorders (ASD) than controls, and also assessed variables that may affect BMD in ASD. BMD was measured using dual energy X-ray absorptiometry (DXA) in 18 boys with ASD and 19 controls 8-14 years old. Boys with ASD had lower BMD Z-scores at the spine, hip and…

  1. Forensic aspects of intellectual disabilities and autism spectrum disorders

    OpenAIRE

    Nugent, Stella

    2016-01-01

    Overview This thesis reviewed forensic aspects of Intellectual Disabilities (ID) and Autism Spectrum Disorder (ASD). Chapter two was a case study where an individual with ID and ASD who exhibited forensic/Challenging Behaviour (CB) was assessed and intervention offered. Chapter three then focussed on the assessment of people with ID and ASD by critiquing the Wechsler Adult Intelligence Scale (WAIS), version 3 and 4 (WAIS-III & WAIS-IV) (Wechsler, 1997; Wechsler, 2008a, 2008b, 2008c) and ...

  2. Validation of Proposed "DSM-5" Criteria for Autism Spectrum Disorder

    Science.gov (United States)

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

    2012-01-01

    Objective: The primary aim of the present study was to evaluate the validity of proposed "DSM-5" criteria for autism spectrum disorder (ASD). Method: We analyzed symptoms from 14,744 siblings (8,911 ASD and 5,863 non-ASD) included in a national registry, the Interactive Autism Network. Youth 2 through 18 years of age were included if at least one…

  3. Vocational Support Approaches in Autism Spectrum Disorder: A Synthesis Review of the Literature

    Science.gov (United States)

    Nicholas, David B.; Attridge, Mark; Zwaigenbaum, Lonnie; Clarke, Margaret

    2015-01-01

    This synthesis-based analysis identifies and reviews studies evaluating vocational resources for adults with autism spectrum disorder. It is based on a larger systematic review of intervention studies in autism spectrum disorder, from which a critical interpretive synthesis was conducted on studies related to vocation and autism spectrum disorder.…

  4. Comparing Service Use and Costs among Adolescents with Autism Spectrum Disorders, Special Needs and Typical Development

    Science.gov (United States)

    Barrett, Barbara; Mosweu, Iris; Jones, Catherine R. G.; Charman, Tony; Baird, Gillian; Simonoff, Emily; Pickles, Andrew; Happé, Francesca; Byford, Sarah

    2015-01-01

    Autism spectrum disorder is a complex condition that requires specialised care. Knowledge of the costs of autism spectrum disorder, especially in comparison with other conditions, may be useful to galvanise policymakers and leverage investment in education and intervention to mitigate aspects of autism spectrum disorder that negatively impact…

  5. Gestural Communication in Children with Autism Spectrum Disorders during Mother-Child Interaction

    Science.gov (United States)

    Mastrogiuseppe, Marilina; Capirci, Olga; Cuva, Simone; Venuti, Paola

    2015-01-01

    Children with autism spectrum disorders display atypical development of gesture production, and gesture impairment is one of the determining factors of autism spectrum disorder diagnosis. Despite the obvious importance of this issue for children with autism spectrum disorder, the literature on gestures in autism is scarce and contradictory. The…

  6. An MEG Investigation of Neural Biomarkers and Language in Nonverbal Children with Autism Spectrum Disorders

    Science.gov (United States)

    2014-09-01

    1.Lord C, Risi S, Pickles A. Trajectory of language development in autistic spectrum disorders . In: Rice M, Warren S, eds. Developmental Language...Nonverbal Children with Autism Spectrum Disorders PRINCIPAL INVESTIGATOR: Kristina McFadden CONTRACTING ORGANIZATION: University of...SUBTITLE 5a. CONTRACT NUMBER An MEG Investigation of Neural Biomarkers and Language in Nonverbal Children with Autism Spectrum Disorders 5b

  7. Adolescent Boys with an Autism Spectrum Disorder and Their Experience of Sexuality: An Interpretative Phenomenological Analysis

    Science.gov (United States)

    Dewinter, Jeroen; Van Parys, Hanna; Vermeiren, Robert; van Nieuwenhuizen, Chijs

    2017-01-01

    This qualitative study explored how adolescent boys with autism spectrum disorder experience their sexuality. Previous research has demonstrated that sexuality is a developmental task for boys with autism spectrum disorder, as it is for their peers. Case studies have suggested a relation between autism spectrum disorder and atypical sexual…

  8. Is There Concordance in Attitudes and Beliefs between Parents and Scientists about Autism Spectrum Disorder?

    Science.gov (United States)

    Fischbach, Ruth L.; Harris, Mark J.; Ballan, Michelle S.; Fischbach, Gerald D.; Link, Bruce G.

    2016-01-01

    There is no reported investigation comparing concordance in attitudes and beliefs about autism spectrum disorder between parents of children with autism spectrum disorder and scientists who research autism spectrum disorder. To investigate the level of concordance between these groups on causes of autism, priorities of research, perceived stigma,…

  9. The Influence of Media Suggestions about Links between Criminality and Autism Spectrum Disorder

    Science.gov (United States)

    Brewer, Neil; Zoanetti, Jordana; Young, Robyn L.

    2017-01-01

    We examined whether media reports linking criminal behaviour and autism spectrum disorder foster negative attitudes towards individuals with autism spectrum disorder. In a between-subjects design, participants were exposed to (a) a media story in which a murderer was labelled with autism spectrum disorder (media exposure condition) or not labelled…

  10. Family-Focused Autism Spectrum Disorder Research: A Review of the Utility of Family Systems Approaches

    Science.gov (United States)

    Cridland, Elizabeth K.; Jones, Sandra C.; Magee, Christopher A.; Caputi, Peter

    2014-01-01

    A family member with an autism spectrum disorder presents pervasive and bidirectional influences on the entire family system, suggesting a need for family-focused autism spectrum disorder research. While there has been increasing interest in this research area, family-focused autism spectrum disorder research can still be considered relatively…

  11. Diagnoses of Autism Spectrum Disorders in Germany: Time Trends in Administrative Prevalence and Diagnostic Stability

    Science.gov (United States)

    Bachmann, Christian J.; Gerste, Bettina; Hoffmann, Falk

    2018-01-01

    For Germany, no data on trends in autism spectrum disorder diagnoses are available. The primary aim of this study was to establish the time trends in the administrative prevalence of autism spectrum disorder diagnoses. The second aim was to assess the stability of autism spectrum disorder diagnoses over time. We analysed administrative outpatient…

  12. Obesity and Associated Factors in Youth with an Autism Spectrum Disorder

    Science.gov (United States)

    Granich, Joanna; Lin, Ashleigh; Hunt, Anna; Wray, John; Dass, Alena; Whitehouse, Andrew J. O.

    2016-01-01

    Weight status on children and youth with autism spectrum disorder is limited. We examined the prevalence of overweight/obesity in children and youth with autism spectrum disorder, and associations between weight status and range of factors. Children and youth with autism spectrum disorder aged 2-16 years (n = 208) and their parents participated in…

  13. Autism Spectrum Disorders in Africa : Current Challenges in Identification, Assessment, and Treatment

    NARCIS (Netherlands)

    Ruparelia, Kavita; Abubakar, Amina; Badoe, Eben; Bakare, Muideen; Visser, Karren; Chugani, Diane C.; Chugani, Harry T.; Donald, Kirsten A.; Wilmshurst, Jo M.; Shih, Andy; Skuse, David; Newton, Charles R.

    2016-01-01

    Prevalence of autism spectrum disorders has increased over recent years, however, little is known about the identification and management of autism spectrum disorder in Africa. This report summarizes a workshop on autism spectrum disorder in Africa under the auspices of the International Child

  14. Preconceptional and Prenatal Supplementary Folic Acid and Multivitamin Intake and Autism Spectrum Disorders

    Science.gov (United States)

    Virk, Jasveer; Liew, Zeyan; Olsen, Jørn; Nohr, Ellen A.; Catov, Janet M.; Ritz, Beate

    2016-01-01

    Objective: To evaluate whether early folic acid supplementation during pregnancy prevents diagnosis of autism spectrum disorders in offspring. Methods: Information on autism spectrum disorder diagnosis was obtained from the National Hospital Register and the Central Psychiatric Register. We estimated risk ratios for autism spectrum disorders for…

  15. Association of adoptive child's thought disorders and schizophrenia spectrum disorders with their genetic liability for schizophrenia spectrum disorders, season of birth and parental Communication Deviance.

    Science.gov (United States)

    Roisko, Riikka; Wahlberg, Karl-Erik; Hakko, Helinä; Tienari, Pekka

    2015-04-30

    Joint effects of genotype and the environment have turned out to be significant in the development of psychotic disorders. The purpose of the present study was to assess the association of an adoptive child׳s thought and schizophrenia spectrum disorders with genetic and environmental risk indicators and their interactions. A subgroup of the total sample used in the Finnish Adoptive Family Study was considered in the present study. The subjects were 125 adoptees at a high (n=53) or low (n=72) genetic risk of schizophrenia spectrum disorders and their adoptive parents. The risk factors evaluated were the adoptive child's genetic risk for schizophrenia spectrum disorders, winter or spring birth and parental Communication Deviance (CD). Thought disorders in the adoptees were assessed using the Thought Disorder Index and diagnoses were made according to DSM-III-R criteria. The adoptive child׳s Thought Disorder Index was only associated with parental Communication Deviance. The adoptive child's heightened genetic risk or winter or spring birth or parental CD or their interactions did not predict the adoptee's schizophrenia spectrum disorder. The results suggest that studies taking several risk indicators and their interactions into account may change views on the mutual significance of well-known risk factors. Copyright © 2015. Published by Elsevier Ireland Ltd.

  16. [Differential diagnosis between Schizotypal Personality Disorder and Autism Spectrum Disorders: a case report].

    Science.gov (United States)

    Ünver, Buket; Öner, Özgür; Yurtbaşı, Pınar

    2015-01-01

    Schizotypal personality disorder is characterized by social and interpersonal deficits marked by discomfort with, and reduced capacity for, close relationships as well as by cognitive or perceptual distortions and eccentricities of behavior. Inappropriate or constricted affect, reduced capacity for relationships, lack of close friends and reduced capacity for social life are the symptoms that overlap both schizotypal personality disorder and autism spectrum disorders. The making of differential diagnosis may be difficult since several symptoms are similar between these disorders. In this study, we discussed the differential diagnosis issues on the basis of an adolescent case. Odd appearance, magical thoughts, reference thoughts suggests Schizotypal Personality Disorder whereas lack of eye contact at 2 years old, a preference to be isolated and play alone and referral to a child psychiatrist at 4 years old suggest Autism Spectrum Disorders. Based on the results of psychological assessment, Wechsler Intelligence Scale for Children-Revised (WISC-R) profile is compatible with autistic children's profiles. Based on Schizotypal Personality Questionnaire, the patient's anxiety, lack of close friends, constricted affect symptoms which take place in the category of interpersonal schizotypy seems to overlap with lack of communication of Autism Spectrum Disorders. This case report indicates that, separation of autism and schizophrenia, a very important historical breakthrough in autism research, may be blurred in cases with less typical clinical pictures representing autistic and schizophrenic "spectrum" diagnosis.

  17. Easing the transition to secondary education for children with autism spectrum disorder: An evaluation of the Systemic Transition in Education Programme for Autism Spectrum Disorder (STEP-ASD)

    OpenAIRE

    Mandy, William; Murin, Marianna; Baykaner, Ozlem; Staunton, Sara; Cobb, Robert; Hellriegel, Josselyn; Anderson, Seonaid; Skuse, David

    2015-01-01

    In mainstream education, the transition from primary to secondary school ('school transition') is difficult for children with autism spectrum disorder, being marked by high levels of emotional and behavioural difficulties. The Systemic Transition in Education Programme for Autism Spectrum Disorder (STEP-ASD) is a new, manualised school transition intervention. We investigated its feasibility and efficacy for children diagnosed with autism spectrum disorder (N = 37; mean age = 11.47 years; mea...

  18. Subclinical primary retinal pathology in neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Jeong, In Hye; Kim, Ho Jin; Kim, Nam-Hee; Jeong, Kyoung Sook; Park, Choul Yong

    2016-07-01

    Foveal thickness may be a more sensitive indicator of primary retinal pathology than retinal nerve fiber layer thickness since the fovea contains no or sparse retinal nerve fiber layer, which coalesces into axons of the optic nerve. To our knowledge, few quantitative in vivo studies have investigated foveal thickness. By using optical coherence tomography, we measured foveal thickness to evaluate intrinsic retinal pathology. Seventy-two neuromyelitis optica spectrum disorder patients (99 eyes with optic neuritis and 45 eyes without optic neuritis) and 34 age-matched controls were included. Foveal thinning was observed both in eyes with non-optic neuritis (185.1 µm, p optica spectrum disorder, foveal thickness correlated with 2.5 % low contrast visual acuity, while retinal nerve fiber layer thickness correlated with high or low contrast visual acuity, extended disability status scale, and disease duration. In this study, we observed foveal thinning irrespective of optic neuritis; thus, we believe that subclinical primary retinal pathology, prior to retinal nerve fiber layer thinning, may exist in neuromyelitis optica spectrum disorder.

  19. Factors associated with driving in teens with autism spectrum disorders.

    Science.gov (United States)

    Huang, Patty; Kao, Trudy; Curry, Allison E; Durbin, Dennis R

    2012-01-01

    To compare the characteristics of driving and nondriving teens and explore the driving outcomes for teens with higher functioning autism spectrum disorders. Parents of teens aged 15 to 18 years with a parent-reported diagnosis of an autism spectrum disorder enrolled in Interactive Autism Network, an online research registry, were eligible for this cross-sectional study. An online survey was used for data collection. A total of 297 parents completed the survey. Sixty-three percent of teens currently drive or plan to drive. Twenty-nine percent of the teens who are age-eligible to drive currently drive. Compared with age-eligible but nondriving teens, a greater proportion of driving teens were in full-time regular education (p public transportation. Driving predictors included individualized education plans with driving goals, indicators of functional status (classroom placement, college aspiration, and job experience), and parent experience with teaching teens to drive. Twelve percent of teens received driving citations, and 12% of teens had been involved in a motor vehicle crash. Although a significant proportion of teens with higher functioning autism spectrum disorders were driving or learning to drive, the fact that most driving teens' individualized education plans did not include driving goals suggests an area of opportunity for improvement in transition planning. Driving teens were more frequently in regular education settings with college aspirations, which could help schools identify potential drivers.

  20. Association of Schizophrenia Spectrum and Autism Spectrum Disorder (ASD) Symptoms in Children with ASD and Clinic Controls

    Science.gov (United States)

    Gadow, Kenneth D.

    2013-01-01

    Objective: This study examines relations between the severity of specific symptoms of schizophrenia spectrum disorder (SSD) and severity of the three defining symptom domains of autism spectrum disorder (ASD) in children with ASD (N = 147) and child psychiatry outpatient referrals (Controls; N = 339). Method: Participants were subdivided into four…

  1. Insight, Cognitive Insight and Sociodemographic Features in Obsessive Compulsive Disorder Presenting with Reactive and Autogeneus Features

    Directory of Open Access Journals (Sweden)

    Katre ÇAMLI

    2012-03-01

    Full Text Available Objective: The aim of the present study was to test hypothesis that obsessive compulsive disorder (OCD patients who have autogenous obsessions and reactive obsessions show different sociodemographic and clinical characteristics with different insight and cognitive insight levels. Method: Sixty-one patients diagnosed as OCD according to the Structured Clinical Interview for DSM-III-R (SCID-I are recruited. 31 patients had reactive obsessions and 30 had autogenous obsessions. The sociodemographic characteristics of patients and the symptomatology were evaluated using psychiatric scales including SCID-I, Yale Brown Obsessive- Compulsive Scale (YBOCS, Yale Brown Obsessive-Compulsive Scale-Symptom Checklist (YBOCS-SC and Beck Insight Scale. Results: The percentage of women in reactive obsessive group was higher and also this group had significantly less antipsychotic medication prescribed than the autogenous obsessive group. No significant difference was found for the other demographic variables. No significant difference was identified for the Beck Insight Self-Reflectiveness subscale but for the Self-Certainty subscale, reactive obsessives had higher scores. Although there was no significant difference for the composit index points, which is the subtraction of the two subscales, the p value was close to the limit. On the other hand YBOCS item- 11 scores which evaluates insight were higher in autogenous obsessives meaning low levels of insight. Conclusion: For the sociodemographic and clinical characteristics; there was no significant difference between the groups except gender distribution and antipsychotic medication. Our data about insight seems inconsistent but insight and cognitive insight can be different entities which show different levels of insight. Further investigation with different obsession types is needed.

  2. Lead Excretion in Spanish Children with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Milagros Fuentes-Albero

    2015-02-01

    Full Text Available Among epigenetic factors leading to increased prevalence of juvenile neuropsychiatric disorders, including autism spectrum disorder, exposure to metals, such as lead (Pb have led to conflicting results. The aim of the present study was to determine the levels of Pb in the urine of children with autism spectrum disorder (ASD compared with typically developing children (TD age- and sex-matched, and to analyze any association between core symptoms of ASD, special diets, supplements intake or prescription drugs and the concentration of Pb. The study was performed in a group of children with ASD (n = 35, average age 7.4 ± 0.5 years and TD (n = 34, average age 7.7 ± 0.9 years. Measurement of lead in urine was performed by atomic absorption spectrometry; symptoms of ASD were analyzed by diagnostic and statistical manual of mental disorders (DMS-IV using the questionnary ADI-R. Careful clinical evaluation was also undertaken and statistical analysis was done taking into account any possible confounding factor.

  3. Gender dysphoria and autism spectrum disorder: A narrative review.

    Science.gov (United States)

    Van Der Miesen, Anna I R; Hurley, Hannah; De Vries, Annelou L C

    2016-01-01

    The current literature shows growing evidence of a link between gender dysphoria (GD) and autism spectrum disorder (ASD). This study reviews the available clinical and empirical data. A systematic search of the literature was conducted using the following databases: PubMed, Web of Science, PsycINFO and Scopus; utilizing different combinations of the following search terms: autism, autism spectrum disorder (ASD), Asperger's disorder (AD), co-morbidity, gender dysphoria (GD), gender identity disorder (GID), transgenderism and transsexualism. In total, 25 articles and reports were selected and discussed. Information was grouped by found co-occurrence rates, underlying hypotheses and implications for diagnosis and treatment. GD and ASD were found to co-occur frequently - sometimes characterized by atypical presentation of GD, which makes a correct diagnosis and determination of treatment options for GD difficult. Despite these challenges there are several case reports describing gender affirming treatment of co-occurring GD in adolescents and adults with ASD. Various underlying hypotheses for the link between GD and ASD were suggested, but almost all of them lack evidence.

  4. Aggression in autism spectrum disorder: presentation and treatment options

    Directory of Open Access Journals (Sweden)

    Fitzpatrick SE

    2016-06-01

    Full Text Available Sarah E Fitzpatrick, Laura Srivorakiat, Logan K Wink, Ernest V Pedapati, Craig A Erickson Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA Abstract: Autism spectrum disorder (ASD is a neurodevelopmental disorder characterized by persistent difficulties in social communication and social interaction, coupled with restricted, repetitive patterns of behavior or interest. Research indicates that aggression rates may be higher in individuals with ASD compared to those with other developmental disabilities. Aggression is associated with negative outcomes for children with ASD and their caregivers, including decreased quality of life, increased stress levels, and reduced availability of educational and social support. Therapeutic strategies including functional behavioral assessment, reinforcement strategies, and functional communication training may have a significant impact in reducing the frequency and intensity of aggressive behavior in individuals with ASD. Pharmacologic treatments, particularly the use of second-generation antipsychotics, may also be of some benefit in reducing aggression in individuals with ASD. With the ever-increasing rate of ASD diagnosis, development of effective therapeutic and pharmacologic methods for preventing and treating aggression are essential to improving outcomes in this disorder. Keywords: autism, autism spectrum disorder, aggression, treatment, antipsychotics, applied behavior analysis

  5. GLIA AND NEURODEVELOPMENT: FOCUS ON FETAL ALCOHOL SPECTRUM DISORDERS

    Directory of Open Access Journals (Sweden)

    Marina eGuizzetti

    2014-11-01

    Full Text Available During the last 20 years new and exciting roles for glial cells in brain development have been described. Moreover, several recent studies implicated glial cells in the pathogenesis of neurodevelopmental disorders including Down syndrome, Fragile X syndrome, Rett Syndrome, Autism Spectrum Disorders, and Fetal Alcohol Spectrum Disorders (FASD.Abnormalities in glial cell development and proliferation and increased glial cell apoptosis contribute to the adverse effects of ethanol on the developing brain and it is becoming apparent that the effects of fetal alcohol are due, at least in part, to effects on glial cells affecting their ability to modulate neuronal development and function. The three major classes of glial cells, astrocytes, oligodendrocytes, and microglia as well as their precursors are affected by ethanol during brain development. Alterations in glial cell functions by ethanol dramatically affect neuronal development, survival, and function and ultimately impair the development of the proper brain architecture and connectivity. For instance, ethanol inhibits astrocyte-mediated neuritogenesis and oligodendrocyte development, survival and myelination; furthermore, ethanol induces microglia activation and oxidative stress leading to the exacerbation of ethanol-induced neuronal cell death.This review article describes the most significant recent findings pertaining the effects of ethanol on glial cells and their significance in the pathophysiology of FASD and other neurodevelopmental disorders.

  6. Opioid peptides and gastrointestinal symptoms in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Cristiane P. Lázaro

    2016-01-01

    Full Text Available Autism spectrum disorders (ASDs are characterized by deficits in the individual’s ability to socialize, communicate, and use the imagination, in addition to stereotyped behaviors. These disorders have a heterogenous phenotype, both in relation to symptoms and regarding severity. Organic problems related to the gastrointestinal tract are often associated with ASD, including dysbiosis, inflammatory bowel disease, exocrine pancreatic insufficiency, celiac disease, indigestion, malabsorption, food intolerance, and food allergies, leading to vitamin deficiencies and malnutrition. In an attempt to explain the pathophysiology involved in autism, a theory founded on opioid excess has been the focus of various investigations, since it partially explains the symptomatology of the disorder. Another hypothesis has been put forward whereby the probable triggers of ASDs would be related to the presence of bacteria in the bowel, oxidative stress, and intestinal permeability. The present update reviews these hypotheses.

  7. Assessment of Metabolic Parameters For Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Ananth N Rao

    2009-05-01

    Full Text Available Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain. Autism is one of the five pervasive developmental disorders (PDD, which are characterized by widespread abnormalities of social interactions and communication, and severely restricted interests and highly repetitive behavior. The reported incidence of autism spectrum disorders (ASDs has increased markedly over the past decade. The Centre for Disease Control and Prevention has recently estimated the prevalence of ASDs in the United States at approximately 5.6 per 1000 (1 of 155 to 1 of 160 children. Several metabolic defects, such as phenylketonuria, are associated with autistic symptoms. In deciding upon the appropriate evaluation scheme a clinician must consider a host of different factors. The guidelines in this article have been developed to assist the clinician in the consideration of these factors.

  8. Insight in bipolar disorder : associations with cognitive and emotional processing and illness characteristics

    NARCIS (Netherlands)

    van der Werf - Eldering, Marieke; van der Meer, Lisette; Burger, Huibert; Holthausen, Esther; Nolen, W.A.; Aleman, Andre

    Objective: To investigate the multifactorial relationship between illness insight, cognitive and emotional processes, and illness characteristics in bipolar disorder patients. Methods: Data from 85 euthymic or mildly to moderately depressed bipolar disorder patients were evaluated. Insight was

  9. Diagnostic profile and suicide risk in schizophrenia spectrum disorder.

    Science.gov (United States)

    Reutfors, Johan; Bahmanyar, Shahram; Jönsson, Erik G; Ekbom, Anders; Nordström, Peter; Brandt, Lena; Ösby, Urban

    2010-11-01

    Earlier studies of patients with schizophrenia have investigated suicide risk in relation to specific psychiatric symptoms, but it remains to be better understood how suicide risk relates to the diagnostic profile in these patients. We identified all patients with a first clinical ICD-diagnosis of schizophrenia, schizophreniform or schizoaffective disorder in Stockholm County between 1984 and 2000. Patients who died by suicide within five years from diagnosis were defined as cases (n=84) and were individually matched with a similar number of living controls from the same population. Sociodemographic and clinical variables were retrieved from hospital records through a blind process. DSM-IV lifetime diagnoses for cases and controls were derived using the OPCRIT algorithm. A schizophrenia spectrum diagnosis (i.e. schizophrenia, schizophreniform or schizoaffective disorder) was assigned by OPCRIT to 50% of the suicide cases and 62% of the controls. Criteria for schizophrenia were met by 41% of the cases and 51% of the controls; for schizoaffective disorder by 8% of the cases and 10% of the controls; for other psychosis by 23% of the cases and 25% of the controls; and for mood disorder by 26% of the cases and 12% of the controls. Using the schizophrenia diagnosis as a reference, suicide risk was significantly higher in patients meeting criteria for a mood disorder diagnosis with an adjusted odds ratio of 3.3 (95% CI 1.2-9.0). In patients with a clinical schizophrenia spectrum diagnosis, a DSM-IV mood disorder diagnosis increases the suicide risk more than three-fold. Copyright © 2010 Elsevier B.V. All rights reserved.

  10. A comprehensive review of the 1H-MRS metabolite spectrum in autism spectrum disorder.

    Directory of Open Access Journals (Sweden)

    Talitha eFord

    2016-03-01

    Full Text Available Neuroimaging studies of neuropsychiatric behaviour biomarkers across spectrum disorders are typically based on diagnosis, thus failing to account for the heterogeneity of multi-dimensional spectrum disorders such as autism (ASD. Control group trait phenotypes are also seldom reported. Proton magnetic resonance spectroscopy (1H-MRS measures the abundance of neurochemicals such as neurotransmitters and metabolites and hence can probe disorder phenotypes at clinical and sub-clinical levels. This detailed review summarises and critiques the current 1H-MRS research in ASD. The literature reports reduced N-acetylaspartate (NAA, glutamate and glutamine (Glx, gamma-aminobutyric acid (GABA, creatine and choline, and increased glutamate for children with ASD. Adult studies are few and results are inconclusive. Overall, the literature has several limitations arising from differences in 1H-MRS methodology and sample demographics. We argue that more consistent methods and greater emphasis on phenotype studies will advance understanding of underlying cortical metabolite disturbance in ASD, and the detection, diagnosis and treatment of ASD and other multi-dimensional psychiatric disorders.

  11. Theory of mind impairment: a distinct trait-marker for schizophrenia spectrum disorders and bipolar disorder?

    Science.gov (United States)

    Bora, E; Yücel, M; Pantelis, C

    2009-10-01

    The aim of this study was to critically review the literature in order to determine if Theory of Mind (ToM) impairment can be considered a trait-marker for schizophrenia spectrum disorders and bipolar disorder (BD). After a thorough literature search, we reviewed the empirical studies investigating ToM impairments in remitted schizophrenia patients, first episode patients, subjects at high-risk (HR) for psychosis and first-degree relatives of schizophrenia patients. Studies investigating ToM impairment in other schizophrenia spectrum conditions, affective psychosis and BD were also reviewed. ToM abnormalities exist at onset and continue throughout the course of schizophrenia, persist into remission, and while less severe, are apparent in HR populations. Mentalizing impairments are also observed in other forms of psychotic illness and BD. Mentalizing impairment in schizophrenia spectrum disorders and BD might reflect underlying general cognitive deficits and residual symptom expression, rather than representing a specific trait-marker.

  12. Cognitive functioning and insight in schizophrenia and in schizoaffective disorder.

    Science.gov (United States)

    Birindelli, Nadia; Montemagni, Cristiana; Crivelli, Barbara; Bava, Irene; Mancini, Irene; Rocca, Paola

    2014-01-01

    The aim of this study was to investigate cognitive functioning and insight of illness in two groups of patients during their stable phases, one with schizophrenia and one with schizoaffective disorder. We recruited 104 consecutive outpatients, 64 with schizophrenia, 40 with schizoaffective disorder, in the period between July 2010 and July 2011. They all fulfilled formal Diagnostic and Statistical Manual of Mental disorders (DSM-IV-TR) diagnostic criteria for schizophrenia and schizoaffective disorder. Psychiatric assessment included the Clinical Global Impression Scale-Severity (CGI-S), the Positive and Negative Sindrome Scale (PANSS), the Calgary Depression Scale for Schizophrenia (CDSS) and the Global Assessment of Functioning (GAF). Insight of illness was evaluated using SUMD. Neuropsychological assessment included Winsconsin Card Sorting Test (WCST), California Verbal Learning Test (CVLT), Stroop Test and Trail Making Test (TMT). Differences between the groups were tested using Chi-square test for categorical variables and one-way analysis of variance (ANOVA) for continuous variables. All variables significantly different between the two groups of subjects were subsequently analysed using a logistic regression with a backward stepwise procedure using diagnosis (schizophrenia/schizoaffective disorder) as dependent variable. After backward selection of variables, four variables predicted a schizoaffective disorder diagnosis: marital status, a higher number of admission, better attentive functions and awareness of specific signs or symptoms of disease. The prediction model accounted for 55% of the variance of schizoaffective disorder diagnosis. With replication, our findings would allow higher diagnostic accuracy and have an impact on clinical decision making, in light of an amelioration of vocational functioning.

  13. Cry, Baby, Cry: Expression of Distress As a Biomarker and Modulator in Autism Spectrum Disorder

    Science.gov (United States)

    Hiroi, Noboru; Scattoni, Maria Luisa

    2017-01-01

    Abstract Background: Early diagnosis of autism spectrum disorder is critical, because early intensive treatment greatly improves its prognosis. Methods: We review studies that examined vocalizations of infants with autism spectrum disorder and mouse models of autism spectrum disorder as a potential means to identify autism spectrum disorder before the symptomatic elements of autism spectrum disorder emerge. We further discuss clinical implications and future research priorities in the field. Results: Atypical early vocal calls (i.e., cry) may represent an early biomarker for autism spectrum disorder (or at least for a subgroup of children with autism spectrum disorder), and thus can assist with early detection. Moreover, cry is likely more than an early biomarker of autism spectrum disorder; it is also an early causative factor in the development of the disorder. Specifically, atypical crying, as recently suggested, might induce a “self-generated environmental factor” that in turn, influences the prognosis of the disorder. Because atypical crying in autism spectrum disorder is difficult to understand, it may have a negative impact on the quality of care by the caregiver (see graphical abstract). Conclusions: Evidence supports the hypothesis that atypical vocalization is an early, functionally integral component of autism spectrum disorder. PMID:28204487

  14. Impact of dissociation on treatment of depressive and anxiety spectrum disorders with and without personality disorders.

    Science.gov (United States)

    Prasko, Jan; Grambal, Ales; Kasalova, Petra; Kamardova, Dana; Ociskova, Marie; Holubova, Michaela; Vrbova, Kristyna; Sigmundova, Zuzana; Latalova, Klara; Slepecky, Milos; Zatkova, Marta

    2016-01-01

    The central goal of the study was to analyze the impact of dissociation on the treatment effectiveness in patients with anxiety/neurotic spectrum and depressive disorders with or without comorbid personality disorders. The research sample consisted of inpatients who were hospitalized in the psychiatric department and met the ICD-10 criteria for diagnosis of depressive disorder, panic disorder, generalized anxiety disorder, mixed anxiety-depressive disorder, agoraphobia, social phobia, obsessive compulsive disorder, posttraumatic stress disorder, adjustment disorders, dissociative/conversion disorders, somatoform disorder, or other anxiety/neurotic spectrum disorder. The participants completed these measures at the start and end of the therapeutic program - Beck Depression Inventory, Beck Anxiety Inventory, a subjective version of Clinical Global Impression-Severity, Sheehan Patient-Related Anxiety Scale, and Dissociative Experience Scale. A total of 840 patients with anxiety or depressive spectrum disorders, who were resistant to pharmacological treatment on an outpatient basis and were referred for hospitalization for the 6-week complex therapeutic program, were enrolled in this study. Of them, 606 were statistically analyzed. Data from the remaining 234 (27.86%) patients were not used because of various reasons (103 prematurely finished the program, 131 did not fill in most of the questionnaires). The patients' mean ratings on all measurements were significantly reduced during the treatment. Also, 67.5% reached at least minimal improvement (42.4% showed moderate and more improvement, 35.3% of the patients reached remission). The patients without comorbid personality disorder improved more significantly in the reduction of depressive symptoms than those with comorbid personality disorder. However, there were no significant differences in change in anxiety levels and severity of the mental issues between the patients with and without personality disorders. Higher

  15. Association between severity of behavioral phenotype and comorbid attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders

    OpenAIRE

    Rao, Patricia A; Landa, Rebecca J

    2013-01-01

    Autism spectrum disorder and attention deficit hyperactivity disorder are neurodevelopmental disorders that cannot be codiagnosed under existing diagnostic guidelines (Diagnostic and Statistical Manual of the American Psychiatric Association, 4th ed., text rev.). However, reports are emerging that attention deficit hyperactivity disorder is sometimes comorbid with autism spectrum disorder. In the current study, we examined rates of parent-reported clinically significant symptoms of attention ...

  16. The evolving diagnostic and genetic landscapes of autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Mark Nicholas Ziats

    2016-04-01

    Full Text Available The autism spectrum disorders (ASD are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome.

  17. Advanced parental age and the risk of autism spectrum disorder.

    Science.gov (United States)

    Durkin, Maureen S; Maenner, Matthew J; Newschaffer, Craig J; Lee, Li-Ching; Cunniff, Christopher M; Daniels, Julie L; Kirby, Russell S; Leavitt, Lewis; Miller, Lisa; Zahorodny, Walter; Schieve, Laura A

    2008-12-01

    This study evaluated independent effects of maternal and paternal age on risk of autism spectrum disorder. A case-cohort design was implemented using data from 10 US study sites participating in the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring Network. The 1994 birth cohort included 253,347 study-site births with complete parental age information. Cases included 1,251 children aged 8 years with complete parental age information from the same birth cohort and identified as having an autism spectrum disorder based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision criteria. After adjustment for the other parent's age, birth order, maternal education, and other covariates, both maternal and paternal age were independently associated with autism (adjusted odds ratio for maternal age > or =35 vs. 25-29 years = 1.3, 95% confidence interval: 1.1, 1.6; adjusted odds ratio for paternal age > or =40 years vs. 25-29 years = 1.4, 95% confidence interval: 1.1, 1.8). Firstborn offspring of 2 older parents were 3 times more likely to develop autism than were third- or later-born offspring of mothers aged 20-34 years and fathers aged autism risk with both maternal and paternal age has potential implications for public health planning and investigations of autism etiology.

  18. The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder.

    Science.gov (United States)

    Ziats, Mark N; Rennert, Owen M

    2016-01-01

    The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome.

  19. Children with autism spectrum disorders and selective mutism

    Directory of Open Access Journals (Sweden)

    Steffenburg H

    2018-05-01

    Full Text Available Hanna Steffenburg, Suzanne Steffenburg, Christopher Gillberg, Eva Billstedt Gillberg Neuropsychiatry Centre, Institute of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden Background: It has been suggested that autism spectrum disorder (ASD might be a “comorbid” condition in selective mutism (SM. Methods: In this retrospective study, we examined medical records of children with SM diagnosis (n=97 at a medical center specializing in assessment of ASD. Results: Mean age for onset of SM symptoms was 4.5 years and mean age at SM diagnosis was 8.8 years. SM was more common among girls (boy:girl ratio=2.7:1. We found that 63% of the study group had an ASD (no gender difference. The SM group with combined ASD had later onset of symptoms, higher age at diagnosis, more often a history of speech delay, and a higher proportion of borderline IQ or intellectual disability.Conclusion: The results highlight the risk of overlap between ASD and SM. Keywords: selective mutism, autism spectrum disorders, Asperger syndrome, autistic disorder

  20. Autoimmune AQP4 channelopathies and neuromyelitis optica spectrum disorders.

    Science.gov (United States)

    Hinson, Shannon R; Lennon, Vanda A; Pittock, Sean J

    2016-01-01

    Neuromyelitis optica (NMO) spectrum disorders (SD) represent an evolving group of central nervous system (CNS)-inflammatory autoimmune demyelinating diseases unified by a pathogenic autoantibody specific for the aquaporin-4 (AQP4) water channel. It was historically misdiagnosed as multiple sclerosis (MS), which lacks a distinguishing biomarker. The discovery of AQP4-IgG moved the focus of CNS demyelinating disease research from emphasis on the oligodendrocyte and myelin to the astrocyte. NMO is recognized today as a relapsing disease, extending beyond the optic nerves and spinal cord to include brain (especially in children) and skeletal muscle. Brain magnetic resonance imaging abnormalities, identifiable in 60% of patients at the second attack, are consistent with MS in 10% of cases. NMOSD-typical lesions (another 10%) occur in AQP4-enriched regions: circumventricular organs (causing intractable nausea and vomiting) and the diencephalon (causing sleep disorders, endocrinopathies, and syndrome of inappropriate antidiuresis). Advances in understanding the immunobiology of AQP4 autoimmunity have necessitated continuing revision of NMOSD clinical diagnostic criteria. Assays that selectively detect pathogenic AQP4-IgG targeting extracellular epitopes of AQP4 are promising prognostically. When referring to AQP4 autoimmunity, we suggest substituting the term "autoimmune aquaporin-4 channelopathy" for the term "NMO spectrum disorders." Randomized clinical trials are currently assessing the efficacy and safety of newer immunotherapies. Increasing therapeutic options based on understanding the molecular pathogenesis is anticipated to improve the outcome for patients with AQP4 channelopathy. © 2016 Elsevier B.V. All rights reserved.

  1. [Behavioral phenotypes of autism spectrum disorder patients and their parents].

    Science.gov (United States)

    Situ, Mingjing; Hu, Xiao; Cai, Jia; Guo, Kuifang; Huang, Yi

    2015-12-01

    To explore the relationship between the behavior phenotypes of patients with autism spectrum disorder (ASD) and their parents through family study. 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. 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, Pautism. 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.

  2. Pathogenesis of the Metabolic Syndrome: Insights from Monogenic Disorders

    Directory of Open Access Journals (Sweden)

    Rinki Murphy

    2013-01-01

    Full Text Available Identifying rare human metabolic disorders that result from a single-gene defect has not only enabled improved diagnostic and clinical management of such patients, but also has resulted in key biological insights into the pathophysiology of the increasingly prevalent metabolic syndrome. Insulin resistance and type 2 diabetes are linked to obesity and driven by excess caloric intake and reduced physical activity. However, key events in the causation of the metabolic syndrome are difficult to disentangle from compensatory effects and epiphenomena. This review provides an overview of three types of human monogenic disorders that result in (1 severe, non-syndromic obesity, (2 pancreatic beta cell forms of early-onset diabetes, and (3 severe insulin resistance. In these patients with single-gene defects causing their exaggerated metabolic disorder, the primary defect is known. The lessons they provide for current understanding of the molecular pathogenesis of the common metabolic syndrome are highlighted.

  3. Neurofeedback application in the treatment of autistic spectrum disorders (ASD).

    Science.gov (United States)

    Zivoder, Ivana; Martic-Biocina, Sanja; Kosic, Ana Vodanovic; Bosak, Josipa

    2015-09-01

    The aim of this paper is to describe neurofeedback (NFB) treatment in Autistic spectrum disorder (ASD) children. There is no specific cure for autism and therapeutic guidelines are directed to improve the quality of life of people with autism by reducing the symptoms and by increasing their functioning. Neurofeedback is a computerized method based on tracking electrical activity of the brain (EEG) and giving a feedback about it. The method has been developed in neurophysiological labs of scientific institutes in USA and has been used very successfully for over last 20 years. It has proven its efficacy in practise, but also in scientific and clinical research. During 2010 and 2011 neurofeedback treatment was administered to 10 children (N=10, 7 males and 3 females) age range 4 to 7 years which have been diagnosed as autistic spectrum disorder (highly functional) with an unspecific impairment of speech development and trouble communicating. An evaluation of treatment was done according to estimation of changes in functioning (parents, teachers and therapists' ratings and all other experts that were monitoring the child before, during and after the treatment) and tracking of changes in electrophysiology. The results have shown most changes in behaviour (less aggressive, more cooperation, better communication), attention span and sensory motor skills. According to the assessment of parents, teachers, therapists and other experts all children have accomplished a certain degree of improvement in the level of daily functioning. Our experiences in usage of neurofeedback in Autistic spectrum disorder (ASD) children confirmed previous data that this method can be applied to this category of patients.

  4. Autism Spectrum Disorder in Children Adopted After Early Care Breakdown

    OpenAIRE

    Green, Jonathan; Leadbitter, Kathy; Kay, Catherine; Sharma, Kishan

    2016-01-01

    Syndromic autism has been described in children adopted after orphanage rearing. We investigated whether the same existed in children adopted after family breakdown. Families of 54/60 adopted children aged 6?11?years (mean 102?months; SD 20; 45?% male) returned screening questionnaires for autism spectrum disorder (ASD); 21/54 (39?%) screened positive. Detailed in-person phenotyping of screen positive cases showed ASD in 6/54 (11?%), Broad ASD (sub threshold traits) in 10/54 (18.5?%); 5/54 (9...

  5. Family adjustment across cultural groups in autistic spectrum disorders.

    Science.gov (United States)

    Lobar, Sandra L

    2014-01-01

    This pilot ethnomethodological study examined perceptions of parents/caregivers of children diagnosed with autistic spectrum disorders concerning actions, norms, understandings, and assumptions related to adjustment to this chronic illness. The sample included 14 caregivers (75% Hispanic of various ethnic groups). Maximum variation sampling was used to compare participants on variables that were inductively derived via constant comparative methods of analysis. The following action categories emerged: "Seeking Diagnosis," "Engaging in Routines to Control behavior," "Finding Therapies (Types of Therapies)," "Finding School Accommodations," "Educating Others," "Rising to Challenges," and "Finding the Role of Spiritual and Religious Belief."

  6. Relapse of Neuromyelitis Optica Spectrum Disorder Associated with Intravenous Lidocaine

    Directory of Open Access Journals (Sweden)

    Akiyuki Uzawa

    2011-01-01

    Full Text Available Lidocaine unmasks silent symptoms and eases neuropathic pain in multiple sclerosis patients; however, the effects of lidocaine in neuromyelitis optica have never been reported. We describe the case of a 59-year-old Japanese woman with neuromyelitis optica spectrum disorder who developed optic neuritis 1 day after intravenous lidocaine injection for treating allodynia. Her symptom seemed to result from a relapse of neuromyelitis optica induced by lidocaine administration, and not because of the transient effects of intravenous lidocaine administration. The possibility that lidocaine administration results in relapse of neuromyelitis optica due to its immunomodulating effects cannot be ruled out.

  7. MRI characteristics of neuromyelitis optica spectrum disorder An international update

    DEFF Research Database (Denmark)

    Kim, H. J.; Paul, F.; Lana-Peixoto, M. A.

    2015-01-01

    location without optic nerve and spinal cord involvement. Thus, characteristics of brain abnormalities in such patients have become of increased interest. In this regard, MRI has an increasingly important role in the differential diagnosis of NMO and its spectrum disorder (NMOSD), particularly from...... of manifestations. Brain MRI abnormalities in patients seropositive for anti-aquaporin-4 antibody are common and some may be relatively unique by virtue of localization and configuration. Some seropositive patients present with brain involvement during their first attack and/or continue to relapse in the same...

  8. [Autism spectrum disorders and mu rhythm. A new neurophysiological view].

    Science.gov (United States)

    Palau-Baduell, Montserrat; Valls-Santasusana, Antonio; Salvadó-Salvadó, Berta

    2011-03-01

    Electroencephalographic studies of subjects with autism spectrum disorders (ASD) provide evidences of brain functional aspects in this pathology. Mu rhythm can be reactive in normal population (mu suppression) to both self-movements and to movements performed by others. These reactivities are considered to be related to mirror neurons activity. Subjects with ASD show significant mu suppression to self-movements but they fail to react to the movements performed by others. These findings support the hypothesis of a dysfunctional mirror neurons system in individuals with ASD. Moreover, dysfunction of mirror neurons would be related to social and communicative impairments, cognitive deficits and impairment imitation skills associated with ASD.

  9. Voice patterns in adult English speakers with Autism Spectrum Disorder

    DEFF Research Database (Denmark)

    Fusaroli, Riccardo; Lambrechts, Anna; Yarrow, Kielan

    Individuals with Autism Spectrum Disorder (ASD) often display atypical modulation of speech described as awkward, monotone, or sing-songy (Shriberg et al., 2001). These patterns are a robust signal of social communication deficit (Paul et al., 2005) and contribute to reaching a diagnosis of ASD...... to be re-trained. Conclusions: The current data suggest than ASD adults produce highly regular patterns of speech (as measured by pitch and pause distribution). Importantly this provides a quantifiable measurement to capture some of the clinical reports which contribute to reaching a diagnosis of autism...

  10. Integrated approach to yoga therapy and autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Shantha Radhakrishna

    2010-01-01

    Full Text Available A specially designed Integrated Approach to Yoga Therapy module was applied to Autism Spectrum Disorders over a period of two academic years. Despite low numbers (six in each arm, consistency and magnitude of effects make the findings significant. Parental participation, allowing firm guidance to be given to each child, resulted in significant improvements in imitation and other skills, and in behavior at home and family relationships. We hypothesize that guided imitation of therapist body positions stimulated mirror neuron activation, resulting in improved sense of self.

  11. Sexual behavior and autism spectrum disorders: an update and discussion.

    Science.gov (United States)

    Kellaher, Denise C

    2015-04-01

    In the last few years, we have gained a deeper understanding about sexuality among individuals with autism spectrum disorder (ASD). Greater interest in this subject and improvements in the empirical study of ASD populations are driving this enlightenment. The data is dispelling antiquated notions that ASD individuals are asexual, sexually unknowledgeable and inexperienced, and/or disinterested in relationships. We still have a ways to go in examining paraphilic or deviant arousal sexual behaviors among ASD individuals. This manuscript provides an update on sexuality research in ASD in the last few years. This is accompanied by a discussion of the paraphilic type sexual behaviors observed among some ASD individuals.

  12. Autism Spectrum Disorder in Anorexia Nervosa: An Updated Literature Review.

    Science.gov (United States)

    Westwood, Heather; Tchanturia, Kate

    2017-07-01

    There is growing interest in the relationship between anorexia nervosa (AN) and autism spectrum disorder (ASD). This review aimed to synthesise the most recent research on this topic to identify gaps in current knowledge, directions for future research and reflect on implications for treatment. Eight studies assessing the presence of ASD in AN were identified in the literature along with three studies examining the impact of symptoms of ASD on treatment outcome. Research with young people and using parental-report measures suggest lower rates of co-morbidity than previous adult studies. The wide range of diagnostic tools, methodologies and populations studied make it difficult to determine the prevalence of ASD in AN. Despite this, studies consistently report over-representation of symptoms of ASD in AN. Co-morbid AN and ASD may require more intensive treatment or specifically tailored interventions. Future longitudinal research and female-specific diagnostic tools would help elucidate the relationship between these two disorders.

  13. Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Takeo Kubota

    2016-05-01

    Full Text Available Both environmental factors and genetic factors are involved in the pathogenesis of autism spectrum disorders (ASDs. Epigenetics, an essential mechanism for gene regulation based on chemical modifications of DNA and histone proteins, is also involved in congenital ASDs. It was recently demonstrated that environmental factors, such as endocrine disrupting chemicals and mental stress in early life, can change epigenetic status and gene expression, and can cause ASDs. Moreover, environmentally induced epigenetic changes are not erased during gametogenesis and are transmitted to subsequent generations, leading to changes in behavior phenotypes. However, epigenetics has a reversible nature since it is based on the addition or removal of chemical residues, and thus the original epigenetic status may be restored. Indeed, several antidepressants and anticonvulsants used for mental disorders including ASDs restore the epigenetic state and gene expression. Therefore, further epigenetic understanding of ASDs is important for the development of new drugs that take advantages of epigenetic reversibility.

  14. Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders.

    Science.gov (United States)

    Kubota, Takeo; Mochizuki, Kazuki

    2016-05-14

    Both environmental factors and genetic factors are involved in the pathogenesis of autism spectrum disorders (ASDs). Epigenetics, an essential mechanism for gene regulation based on chemical modifications of DNA and histone proteins, is also involved in congenital ASDs. It was recently demonstrated that environmental factors, such as endocrine disrupting chemicals and mental stress in early life, can change epigenetic status and gene expression, and can cause ASDs. Moreover, environmentally induced epigenetic changes are not erased during gametogenesis and are transmitted to subsequent generations, leading to changes in behavior phenotypes. However, epigenetics has a reversible nature since it is based on the addition or removal of chemical residues, and thus the original epigenetic status may be restored. Indeed, several antidepressants and anticonvulsants used for mental disorders including ASDs restore the epigenetic state and gene expression. Therefore, further epigenetic understanding of ASDs is important for the development of new drugs that take advantages of epigenetic reversibility.

  15. Genetically meaningful phenotypic subgroups in autism spectrum disorders.

    Science.gov (United States)

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

    2014-03-01

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

  16. Communication in autism spectrum disorder: a guide for pediatric nurses.

    Science.gov (United States)

    Brown, Amanda B; Elder, Jennifer H

    2014-01-01

    In the United States, one in every 68 children has autism spectrum disorder (ASD) (Centers for Disease Control and Prevention, 2014). ASD is a developmental disorder of the brain that is characterized by impairments in social interaction, communication, and repetitive patterns of behavior (American Psychiatric Association [APA], 2013). Nurses have a duty to provide high quality care to children with ASD. Effective communication is essential to providing quality care. Three main theories attempt to explain how the ASD brain functions and the implications on communication: lack of theory of mind, weak central coherence, and lack of executive function. Children with ASD have difficulties in vocalic, kinesthetic, and proxemic aspects of communication (Notbhom, 2006). Simple adaptations to environment and style can make the communication between nurses and children with ASD easier and more effective (Aylott, 2000; Green et al., 2010).

  17. [Basics of early intervention in children with autism spectrum disorders].

    Science.gov (United States)

    Zalaquett, Daniela F; Schönstedt, Marianne G; Angeli, Milagros; Herrrera, Claudia C; Moyano, Andrea C

    2015-01-01

    Autism Spectrum Disorders (ASD) are characterized by impairments in communication and social interaction, as well as restricted and repetitive patterns of behavior. They have a prevalence of 0.6% in the general population, although there are no national statistics. Even though their evolution is variable, it has been observed that early intervention is an important factor determining prognosis. The aim of this study is to update concepts regarding the current available evidence on the importance of early intervention. After analyzing the collected information, the importance of early intervention programs for children with ASD is confirmed, as well as the role of pediatricians and other health professionals in the early detection of these disorders. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  18. Childhood motor coordination and adult schizophrenia spectrum disorders

    DEFF Research Database (Denmark)

    Schiffman, Jason; Sorensen, Holger J; Maeda, Justin

    2009-01-01

    in May 2007. RESULTS: Children who later developed a schizophrenia spectrum disorder (N=32) displayed significantly higher scores on a scale of coordination deficits compared with those who did not develop a mental illness in this category (N=133). CONCLUSIONS: Results from this study provide further......-13 years old. Adult diagnostic information was available for 244 members of the sample. Participants fell into three groups: children whose mothers or fathers had a psychiatric hospital diagnosis of schizophrenia (N=94); children who had at least one parent with a psychiatric record of hospitalization...... for a nonpsychotic disorder (N=84); and children with no parental records of psychiatric hospitalization (N=66). Psychiatric outcomes of the offspring were assessed through psychiatric interviews in 1992 when participants were 31-33 years of age, as well as through a scan of national psychiatric registers completed...

  19. Autism spectrum disorder profile in neurofibromatosis type I.

    Science.gov (United States)

    Garg, Shruti; Plasschaert, Ellen; Descheemaeker, Mie-Jef; Huson, Susan; Borghgraef, Martine; Vogels, Annick; Evans, D Gareth; Legius, Eric; Green, Jonathan

    2015-06-01

    Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40%. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4-16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills.

  20. Elevated Autism Spectrum Disorder Traits in Young Children with OCD.

    Science.gov (United States)

    Stewart, Elyse; Cancilliere, Mary Kathryn; Freeman, Jennifer; Wellen, Brianna; Garcia, Abbe; Sapyta, Jeffrey; Franklin, Martin

    2016-12-01

    Studies have shown a high prevalence of autistic spectrum traits in both children and adults with psychiatric disorders; however the prevalence rate has not yet been investigated in young children with OCD. The aim of the current study was to (1) determine whether ASD traits indicated by the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS) were elevated in young children with OCD who do not have a specific ASD diagnosis and (2) determine if ASD traits were associated with OCD severity. Participants (N = 127) were children ages 5-8 years enrolled in the pediatric obsessive-compulsive disorder treatment study for young children (POTS Jr.). Results indicated that the SRS showed elevated autistic traits in the sample and was associated with OCD severity whereas the SCQ did not indicate heightened ASD symptoms. Implications of these results are discussed.

  1. Motor skills of children with autistic spectrum disorder

    Directory of Open Access Journals (Sweden)

    Zikl Pavel

    2016-01-01

    Full Text Available The contribution contains results of a research of motor skills of children with autistic spectrum disorder. The group of children represents besides major triad of symptoms, also described difficulties in the field of motor skills. Our aim to find out what motor skills of these children are in comparison with intact population and what differences are found in individual motor items, i.e. in fine motor skills, gross motor skills and in balance. The data was gained with the use of standardized Movement Assessment Battery test for Children 2 (MABC-2. Objective testing of this group of children is relatively difficult. There were successfully tested 36 children with ASD during this phase of research. The research demonstrated evident motor disorder at 86% of children in the observed sample. Statistically significant were worse results in the field of fine motor skills compared to the results in gross motor skills and balance.

  2. Does Sex Influence the Diagnostic Evaluation of Autism Spectrum Disorder in Adults?

    Science.gov (United States)

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

    2016-01-01

    It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1,244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more…

  3. Psychosexual functioning of cognitively-able adolescents with autism spectrum disorder compared to typically developing peers : The development and testing of the teen transition inventory- a self- and parent report questionnaire on psychosexual functioning

    NARCIS (Netherlands)

    Dekker, Linda P; van der Vegt, Esther J M; van der Ende, Jan; Tick, Nouchka; Louwerse, Anneke; Maras, Athanasios; Verhulst, Frank C.; Greaves-Lord, Kirstin

    2017-01-01

    To gain further insight into psychosexual functioning, including behaviors, intrapersonal and interpersonal aspects, in adolescents with Autism Spectrum Disorder (ASD), comprehensive, multi-informant measures are needed. This study describes (1) the development of a new measure of psychosexual

  4. Psychosexual Functioning of Cognitively-able Adolescents with Autism Spectrum Disorder Compared to Typically Developing Peers : The Development and Testing of the Teen Transition Inventory- a Self- and Parent Report Questionnaire on Psychosexual Functioning

    NARCIS (Netherlands)

    L.P. Dekker; E.J.M. Vegt, van der (Esther); J. van der Ende (Jan); N.T. Tick (Nouchka Tamar); I. Louwerse (Ilse); A. Maras (Athanasios); F.C. Verhulst (Frank); K. Greaves-Lord (Kirstin)

    2017-01-01

    textabstractTo gain further insight into psychosexual functioning, including behaviors, intrapersonal and interpersonal aspects, in adolescents with Autism Spectrum Disorder (ASD), comprehensive, multi-informant measures are needed. This study describes (1) the development of a new measure of

  5. Increased Clinical and Neurocognitive Impairment in Children with Autism Spectrum Disorders and Comorbid Bipolar Disorder

    Science.gov (United States)

    Weissman, Adam S.; Bates, Marsha E.

    2010-01-01

    Bipolar (BD) symptomatology is prevalent in children with autism spectrum disorders (ASD) and may lead to increased impairment. The current study compared clinical and neurocognitive impairment in children (7-13 years) diagnosed with ASD (n=55), BD (n=34), ASD + BD (n=23), and a non-clinical control group (n=27). Relative to the ASD group, the ASD…

  6. Characteristics of autism spectrum disorder in anorexia nervosa: A naturalistic study in an inpatient treatment programme.

    Science.gov (United States)

    Tchanturia, Kate; Adamson, James; Leppanen, Jenni; Westwood, Heather

    2017-11-01

    Previous research has demonstrated links between anorexia nervosa and autism spectrum disorder however, few studies have examined the possible impact of symptoms of autism spectrum disorder on clinical outcomes in anorexia nervosa. The aim of this study was to examine the association between symptoms of autism spectrum disorder and eating disorders, and other psychopathology during the course of inpatient treatment in individuals with anorexia nervosa. Participants with anorexia nervosa (n = 171) completed questionnaires exploring eating disorder psychopathology, symptoms of depression and anxiety, and everyday functioning at both admission and discharge. Characteristics associated with autism spectrum disorder were assessed using the Autism Spectrum Quotient, short version. Autism spectrum disorder symptoms were significantly positively correlated with eating disorder psychopathology, work and social functioning, and symptoms of depression and anxiety, but not with body mass index. Autism Spectrum Quotient, short version scores remained relatively stable from admission to discharge but there was a small, significant reduction in scores. There was no interaction between time and Autism Spectrum Quotient, short version scores on clinical symptom change. In anorexia nervosa, autism spectrum disorder symptoms appear to be associated with a more severe clinical presentation on admission to inpatient care. Autism spectrum disorder symptoms as assessed by self-report measures may be exacerbated by other mental health psychopathology, which warrants further investigation.

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

    Science.gov (United States)

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

    2018-04-01

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

  8. Preconceptional and prenatal supplementary folic acid and multivitamin intake and autism spectrum disorders

    DEFF Research Database (Denmark)

    Virk, Jasveer; Liew, Zeyan; Olsen, Jørn

    2016-01-01

    OBJECTIVE: To evaluate whether early folic acid supplementation during pregnancy prevents diagnosis of autism spectrum disorders in offspring. METHODS: Information on autism spectrum disorder diagnosis was obtained from the National Hospital Register and the Central Psychiatric Register. We...... risk for autism spectrum disorders in offspring of women using folic acid supplements in early pregnancy....... early folate or multivitamin intake for autism spectrum disorder (folic acid-adjusted risk ratio: 1.06, 95% confidence interval: 0.82-1.36; multivitamin-adjusted risk ratio: 1.00, 95% confidence interval: 0.82-1.22), autistic disorder (folic acid-adjusted risk ratio: 1.18, 95% confidence interval: 0...

  9. The Role of Epigenetic Change in Autism Spectrum Disorders.

    Science.gov (United States)

    Loke, Yuk Jing; Hannan, Anthony John; Craig, Jeffrey Mark

    2015-01-01

    Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by problems with social communication, social interaction, and repetitive or restricted behaviors. ASD are comorbid with other disorders including attention deficit hyperactivity disorder, epilepsy, Rett syndrome, and Fragile X syndrome. Neither the genetic nor the environmental components have been characterized well enough to aid diagnosis or treatment of non-syndromic ASD. However, genome-wide association studies have amassed evidence suggesting involvement of hundreds of genes and a variety of associated genetic pathways. Recently, investigators have turned to epigenetics, a prime mediator of environmental effects on genomes and phenotype, to characterize changes in ASD that constitute a molecular level on top of DNA sequence. Though in their infancy, such studies have the potential to increase our understanding of the etiology of ASD and may assist in the development of biomarkers for its prediction, diagnosis, prognosis, and eventually in its prevention and intervention. This review focuses on the first few epigenome-wide association studies of ASD and discusses future directions.

  10. The role of epigenetic change in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Yuk Jin eLoke

    2015-05-01

    Full Text Available Autism spectrum disorders (ASD are a heterogeneous group of neurodevelopmental disorders characterised by problems with social communication, social interaction and repetitive or restricted behaviours. ASD is comorbid with other disorders including attention deficit hyperactivity disorder, epilepsy, Rett syndrome and Fragile X syndrome. Neither the genetic nor the environmental components have been characterised well enough to aid diagnosis or treatment of non-syndromic ASD. However, genome-wide association studies have amassed evidence suggesting involvement of hundreds of genes and a variety of associated genetic pathways. Recently, investigators have turned to epigenetics, a prime mediator of environmental effects on genomes and phenotype, to characterise changes in ASD that constitute a molecular level on top of DNA sequence. Though in their infancy, such studies have the potential to increase our understanding of the aetiology of ASD and may assist in the development of biomarkers for its prediction, diagnosis, prognosis and eventually in its prevention and intervention. This review focuses on the first few epigenome-wide association studies of ASD and discusses future directions.

  11. Central coherence in adolescents with bulimia nervosa spectrum eating disorders.

    Science.gov (United States)

    Darcy, Alison M; Fitzpatrick, Kathleen Kara; Manasse, Stephanie M; Datta, Nandini; Klabunde, Megan; Colborn, Danielle; Aspen, Vandana; Stiles-Shields, Colleen; Labuschagne, Zandre; Le Grange, Daniel; Lock, James

    2015-07-01

    Weak central coherence-a tendency to process details at the expense of the gestalt-has been observed among adults with bulimia nervosa (BN) and is a potential candidate endophenotype for eating disorders (EDs). However, as BN behaviors typically onset during adolescence it is important to assess central coherence in this younger age group to determine whether the findings in adults are likely a result of BN or present earlier in the evolution of the disorder. This study examines whether the detail-oriented and fragmented cognitive inefficiency observed among adults with BN is observable among adolescents with shorter illness duration, relative to healthy controls. The Rey-Osterrieth Complex Figure Test (RCFT) was administered to a total of 47 adolescents with DSM5 BN, 42 with purging disorder (PD), and 25 healthy controls (HC). Performance on this measure was compared across the three groups. Those with BN and PD demonstrated significantly worse accuracy scores compared to controls in the copy and delayed recall condition with a moderate effect size. These findings were exacerbated when symptoms of BN increased. Poorer accuracy scores reflect a fragmented and piecemeal strategy that interferes with visual-spatial integration in BN spectrum disorders. This cognitive inefficiency likely contributes to broad difficulties in executive functioning in this population especially in the context of worsening bulimic symptoms. The findings of this study support the hypothesis that poor global integration may constitute a cognitive endophenotype for BN. © 2014 Wiley Periodicals, Inc.

  12. Aging with autism spectrum disorder: an emerging public health problem.

    Science.gov (United States)

    Hategan, Ana; Bourgeois, James A; Goldberg, Jeremy

    2017-04-01

    From 1943, when Leo Kanner originally described autism, and to the first objective criteria for "infantile autism" in DSM-III and the inclusion of Asperger's disorder in DSM-IV, the subsequent classification scheme for autistic disorders has led to a substantial change with the 2013 issuance of the DSM-5 by including subcategories into one umbrella diagnosis of autism spectrum disorder (ASD) (Baker, 2013). ASD is a lifelong neurodevelopmental disorder, characterized by social and communication impairments and restricted, stereotypical patterns of behavior (Baker, 2013). It is currently expected that most, or all of the actual cases of ASD, are identified in a timely way (i.e. in early childhood). However, there are many undiagnosed older adults who may have met the current diagnostic criteria for ASD as children, but never received such a diagnosis due to the fact it had yet to be established. In addition, some patients with relatively less impairing phenotypes may escape formal diagnosis in childhood, only to later be diagnosed in adulthood. Nevertheless, the first generation of diagnosed patients with ASD is now in old age. Many such ASD patients have needed family and institutional support for their lives subsequent to childhood diagnosis. Due to aging and death of their parents and other supportive figures leading to a loss of social structures, there is no better time than now for the medical community to act.

  13. Genomic and Epigenomic Insights into Nutrition and Brain Disorders

    Directory of Open Access Journals (Sweden)

    Margaret Joy Dauncey

    2013-03-01

    Full Text Available Considerable evidence links many neuropsychiatric, neurodevelopmental and neurodegenerative disorders with multiple complex interactions between genetics and environmental factors such as nutrition. Mental health problems, autism, eating disorders, Alzheimer’s disease, schizophrenia, Parkinson’s disease and brain tumours are related to individual variability in numerous protein-coding and non-coding regions of the genome. However, genotype does not necessarily determine neurological phenotype because the epigenome modulates gene expression in response to endogenous and exogenous regulators, throughout the life-cycle. Studies using both genome-wide analysis of multiple genes and comprehensive analysis of specific genes are providing new insights into genetic and epigenetic mechanisms underlying nutrition and neuroscience. This review provides a critical evaluation of the following related areas: (1 recent advances in genomic and epigenomic technologies, and their relevance to brain disorders; (2 the emerging role of non-coding RNAs as key regulators of transcription, epigenetic processes and gene silencing; (3 novel approaches to nutrition, epigenetics and neuroscience; (4 gene-environment interactions, especially in the serotonergic system, as a paradigm of the multiple signalling pathways affected in neuropsychiatric and neurological disorders. Current and future advances in these four areas should contribute significantly to the prevention, amelioration and treatment of multiple devastating brain disorders.

  14. Sleep Dependent Memory Consolidation in Children with Autism Spectrum Disorder.

    Science.gov (United States)

    Maski, Kiran; Holbrook, Hannah; Manoach, Dara; Hanson, Ellen; Kapur, Kush; Stickgold, Robert

    2015-12-01

    Examine the role of sleep in the consolidation of declarative memory in children with autism spectrum disorder (ASD). Case-control study. Home-based study with sleep and wake conditions. Twenty-two participants with ASD and 20 control participants between 9 and 16 y of age. Participants were trained to criterion on a spatial declarative memory task and then given a cued recall test. Retest occurred after a period of daytime wake (Wake) or a night of sleep (Sleep) with home-based polysomnography; Wake and Sleep conditions were counterbalanced. Children with ASD had poorer sleep efficiency than controls, but other sleep macroarchitectural and microarchitectural measures were comparable after controlling for age and medication use. Both groups demonstrated better memory consolidation across Sleep than Wake, although participants with ASD had poorer overall memory consolidation than controls. There was no interaction between group and condition. The change in performance across sleep, independent of medication and age, showed no significant relationships with any specific sleep parameters other than total sleep time and showed a trend toward less forgetting in the control group. This study shows that despite their more disturbed sleep quality, children with autism spectrum disorder (ASD) still demonstrate more stable memory consolidation across sleep than in wake conditions. The findings support the importance of sleep for stabilizing memory in children with and without neurodevelopmental disabilities. Our results suggest that improving sleep quality in children with ASD could have direct benefits to improving their overall cognitive functioning. © 2015 Associated Professional Sleep Societies, LLC.

  15. Autism spectrum disorder in the scope of tactile processing

    Directory of Open Access Journals (Sweden)

    Mark Mikkelsen

    2018-01-01

    Full Text Available Sensory processing abnormalities are among the most common behavioral phenotypes seen in autism spectrum disorder (ASD, typically characterized by either over- or under-responsiveness to stimulation. In this review, we focus on tactile processing dysfunction in ASD. We firstly review clinical studies wherein sensitivity to tactile stimuli has traditionally been assessed by self-, parent- and experimenter-reports. We also discuss recent investigations using psychophysical paradigms that gauge individual tactile thresholds. These more experimentally rigorous studies allow for more objective assessments of tactile abnormalities in ASD. However, little is understood about the neurobiological mechanisms underlying these abnormalities, or the link between tactile abnormalities and ASD symptoms. Neurobiological research that has been conducted has pointed toward dysfunction in the excitation/inhibition balance of the central nervous system of those with ASD. This review covers recent efforts that have investigated tactile dysfunction in ASD from clinical and behavioral perspectives, and some of the efforts to link these to neurobiology. On the whole, findings are inconsistent, which can be ascribed to the subjectivity of clinical assessments, the heterogeneity of ASD cohorts, and the diversity of tactile sensitivity measures. Future endeavors into understanding tactile processing differences in ASD will greatly benefit from controlled experiments driven by neurobiological hypotheses. Keywords: Autism spectrum disorder, Psychophysics, Review, Touch, Somatosensory, Tactile processing

  16. The relationship between sensory processing and anxiety on cars scale in autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Novaković Neda

    2015-01-01

    Full Text Available Autism Spectrum Disorder is a neurodevelopmental disorder, characterized by deficits in social interactions, social communication, stereotyped behavior associated with sensory disorders occurring before the age of 3. There has been a growing trend of this neurodevelopmental disorder in recent years. Although the sensory processing problems have been noticed since the first descriptions of autism spectrum disorders, it is only the DSM-5, diagnostic and statistical manual of mental disorders, that includes sensory problems, as the crucial symptom in diagnostic profile of autism spectrum disorder. Objective: To establish the relationship between functional areas related to sensory processing and anxiety, as well as to determine the degree of autistic disorder in adolescents and adults with autism spectrum disorder. Method: 42 participants, adolescents and adults with severe autism disorder and intellectual disability, aged 15-35, of both sexes from Belgrade were evaluated by Childhood Autism Rating Scale (CARS used to determine the degree of autistic disorder. The following functional areas were compared: sensory interests and anxiety in adolescents and adults with autistic spectrum of both sexes. Results: The results indicated the existence of the relationship between anxiety and unusual sensory interests and the severity of autism spectrum disorder. The results showed that there was a correlation between visual perception and the level of intellectual functioning, especially of the severity of autistic disorder and visual perception. Conclusion: These results indicate the reasons of the problems and difficulties in the field of general adaptation of the individuals with autism spectrum disorder.

  17. Risk of Psychiatric and Neurodevelopmental Disorders Among Siblings of Probands With Autism Spectrum Disorders.

    Science.gov (United States)

    Jokiranta-Olkoniemi, Elina; Cheslack-Postava, Keely; Sucksdorff, Dan; Suominen, Auli; Gyllenberg, David; Chudal, Roshan; Leivonen, Susanna; Gissler, Mika; Brown, Alan S; Sourander, Andre

    2016-06-01

    Previous research has focused on examining the familial clustering of schizophrenia, bipolar disorder, and autism spectrum disorders (ASD). Little is known about the clustering of other psychiatric and neurodevelopmental disorders among siblings of persons with ASD. To examine the risk for psychiatric and neurodevelopmental disorders among full siblings of probands with ASD. The Finnish Prenatal Study of Autism and Autism Spectrum Disorders used a population-based cohort that included children born from January 1, 1987, to December 31, 2005, who received a diagnosis of ASD by December 31, 2007. Each case was individually matched to 4 control participants by sex and date and place of birth. The siblings of the cases and controls were born from January 1, 1977, to December 31, 2005, and received a diagnosis from January 1, 1987, to December 31, 2009. This nested case-control study included 3578 cases with ASD with 6022 full siblings and 11 775 controls with 22 127 siblings from Finnish national registers. Data were analyzed from March 6, 2014, to February 12, 2016. The adjusted risk ratio (RR) for psychiatric and neurodevelopmental disorders among siblings of probands with ASD vs siblings of matched controls. Additional analyses were conducted separately for ASD subgroups, including childhood autism, Asperger syndrome, and pervasive developmental disorders not otherwise specified. Analyses were further stratified by sex and intellectual disability among the probands. Among the 3578 cases with ASD (2841 boys [79.4%]) and 11 775 controls (9345 boys [79.4%]), 1319 cases (36.9%) and 2052 controls (17.4%) had at least 1 sibling diagnosed with any psychiatric or neurodevelopmental disorder (adjusted RR, 2.5; 95% CI, 2.3-2.6). The largest associations were observed for childhood-onset disorders (1061 cases [29.7%] vs 1362 controls [11.6%]; adjusted RR, 3.0; 95% CI, 2.8-3.3), including ASD (374 cases [10.5%] vs 125 controls [1.1%]; adjusted RR, 11.8; 95% CI, 9

  18. Attention profiles in autism spectrum disorder and subtypes of attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    Boxhoorn, Sara; Lopez, Eva; Schmidt, Catharina; Schulze, Diana; Hänig, Susann; Freitag, Christine M

    2018-03-06

    Attention problems are observed in attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Most neuropsychological studies that compared both disorders focused on complex executive functions (EF), but missed to contrast basic attention functions, as well as ASD- and ADHD subtypes. The present study compared EF as well as basic attention functioning of children with the combined subtype (ADHD-C), the predominantly inattentive subtype (ADHD-I), and autism spectrum disorder without ADHD (ASD-) with typically developing controls (TD). Basic attention functions and EF profiles were analysed by testing the comprehensive attention function model of van Zomeren and Brouwer using profile analysis. Additionally, neurocognitive impairments in ASD- and ADHD were regressed on dimensional measures of attention- and hyperactive-impulsive symptoms across and within groups. ADHD-C revealed a strong impairment across measures of EF compared to ASD- and TD. The ADHD-C profile furthermore showed disorder specific impairments in interference control, whereas the ASD- profile showed a disorder specific impairment in basic attention component divided attention. Attention- and hyperactive-impulsive symptom severity did not predict neurocognitive impairments across- or within groups. Study findings thus support disorder and subtype specific attention/EF profiles, which refute the idea of a continuum of ADHD-I, ADHD-C, and ASD with increasing neurocognitive impairments.

  19. Structural Brain Abnormalities in Adolescents with Autism Spectrum Disorder and Patients with Attention Deficit/Hyperactivity Disorder

    Science.gov (United States)

    Brieber, Sarah; Neufang, Susanne; Bruning, Nicole; Kamp-Becker, Inge; Remschmidt, Helmut; Herpertz-Dahlmann, Beate; Fink, Gereon R.; Konrad, Kerstin

    2007-01-01

    Background: Although autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) are two distinct neurodevelopmental diseases, they share behavioural, neuropsychological and neurobiological characteristics. For the identification of endophenotypes across diagnostic categories, further investigations of phenotypic overlap…

  20. Genomic Insights into Growth and Its Disorders: An Update

    Science.gov (United States)

    de Bruin, Christiaan; Dauber, Andrew

    2016-01-01

    Purpose of review To provide an update of the most striking new developments in the field of growth genetics over the past 12 months Recent findings A number of large genome-wide association studies have identified new genetic loci and pathways associated to human growth and adult height as well as related traits and comorbidities. New genetic etiologies of primordial dwarfism and several short stature syndromes have been elucidated. Moreover, a breakthrough finding of Xq26 microduplications as a cause of pituitary gigantism was made. Several new developments in imprinted growth-related genes (including the first human mutation in IGF-II) and novel insights into the epigenetic regulation of growth have been reported. Summary Genomic investigations continue to provide new insights into the genetic basis of human growth as well as its disorders. PMID:26702851

  1. Attention and Written Expression in School-Aged, High-Functioning Children with Autism Spectrum Disorders

    Science.gov (United States)

    Zajic, Matthew C.; McIntyre, Nancy; Swain-Lerro, Lindsay; Novotny, Stephanie; Oswald, Tasha; Mundy, Peter

    2016-01-01

    High-functioning children with autism spectrum disorders often find writing challenging. These writing difficulties may be specific to autism spectrum disorder or to a more general clinical effect of attention disturbance, as these children are often comorbid for attention-deficit/hyperactivity disorder (ADHD) symptomatology (and children with…

  2. Caregiver Perspectives about Assistive Technology Use with Their Young Children with Autism Spectrum Disorders

    Science.gov (United States)

    Cardon, Teresa A.; Wilcox, M. Jeanne; Campbell, Philippa H.

    2011-01-01

    The purpose was to examine how caregivers of infants and toddlers with autism spectrum disorder view their daily activities/routines and in what way, if any, assistive technology (AT) acts as a support. A total of 134 families who reported their child's disability as autism spectrum disorder/pervasive developmental disorder completed a survey…

  3. Attention and Written Expression in School-Age, High-Functioning Children with Autism Spectrum Disorders

    Science.gov (United States)

    Zajic, Matthew C.; McIntyre, Nancy; Swain-Lerro, Lindsay; Novotny, Stephanie; Oswald, Tasha; Mundy, Peter

    2018-01-01

    High-functioning children with autism spectrum disorders often find writing challenging. These writing difficulties may be specific to autism spectrum disorder or to a more general clinical effect of attention disturbance, as these children are often comorbid for attention-deficit/hyperactivity disorder (ADHD) symptomatology (and children with…

  4. Brief Measures of Anxiety in Non-Treatment-Seeking Youth with Autism Spectrum Disorder

    Science.gov (United States)

    Kerns, Connor Morrow; Maddox, Brenna B.; Kendall, Philip C.; Rump, Keiran; Berry, Leandra; Schultz, Robert T.; Souders, Margaret C.; Bennett, Amanda; Herrington, John; Miller, Judith

    2015-01-01

    This study investigated the accuracy of brief anxiety scales for non-treatment-seeking youth with autism spectrum disorder. In all, 54 youth (7-17?years; IQ: 67-158) with autism spectrum disorder and their parents completed (a) an expanded version of the Anxiety Disorders Interview Schedule--Child/Parent designed to capture typical and atypical…

  5. Juvenile myoclonic epilepsy as a spectrum disorder: A focused review.

    Science.gov (United States)

    Baykan, Betül; Wolf, Peter

    2017-07-01

    In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype. Focal features may in some patients be seen in clinical seizures or the EEG but rarely in both. They have no morphological correlates. In a system epilepsy, local manifestations are possible, and some are due to reflex mechanisms. Of the four reflex epileptic traits common in JME, photosensitivity and praxis induction appear related to basic mechanisms of the core syndrome, whereas language-induced orofacial reflex myocloni and eye closure sensitivity are also seen in other clinical contexts and therefore seem to represent endophenotypes. Cognitive abnormalities indicating slight frontal lobe dysfunction seem to be ubiquitous in JME and are also seen in unaffected siblings of patients. Cluster B personality disorder is found in 1/3 of patients, representing a more severe expression of the underlying pathology. Treatment response and prognosis seem to be affected by an interplay of the described factors producing the severest end of the JME spectrum. The spectrum appears to be due to an interaction of stronger or weaker expression of the core phenotype with various endophenotypes. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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

    OpenAIRE

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

    2012-01-01

    Mood disorders occur more frequently in family members of individuals with autism spectrum disorders (ASD) than in the general population. There may be associations between maternal mood disorder history patterns and specific ASD phenotypes. We therefore examined the relationship between maternal mood disorders and child autism spectrum disorders in 998 mother-child dyads enrolled in a national online autism registry and database. Mothers of children with ASD completed online questionnaires a...

  7. Does obsessive-compulsive personality disorder belong within the obsessive-compulsive spectrum?

    Science.gov (United States)

    Fineberg, Naomi A; Sharma, Punita; Sivakumaran, Thanusha; Sahakian, Barbara; Chamberlain, Sam R; Chamberlain, Sam

    2007-06-01

    It has been proposed that certain Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Axis I disorders share overlapping clinical features, genetic contributions, and treatment response and fall within an "obsessive-compulsive" spectrum. Obsessive-compulsive personality disorder (OCPD) resembles obsessive-compulsive disorder (OCD) and other spectrum disorders in terms of phenomenology, comorbidity, neurocognition, and treatment response. This article critically examines the nosological profile of OCPD with special reference to OCD and related disorders. By viewing OCPD as a candidate member of the obsessive-compulsive spectrum, we gain a fresh approach to understanding its neurobiology, etiology, and potential treatments.

  8. Characterizing psychiatric comorbidity in children with autism spectrum disorder receiving publicly funded mental health services.

    Science.gov (United States)

    Brookman-Frazee, Lauren; Stadnick, Nicole; Chlebowski, Colby; Baker-Ericzén, Mary; Ganger, William

    2017-09-01

    Publicly funded mental health programs play a significant role in serving children with autism spectrum disorder. Understanding patterns of psychiatric comorbidity for this population within mental health settings is important to implement appropriately tailored interventions. This study (1) describes patterns of psychiatric comorbidity in children with autism spectrum disorder who present to mental health services with challenging behaviors and (2) identifies child characteristics associated with comorbid conditions. Data are drawn from baseline assessments from 201 children with autism spectrum disorder who participated in a community effectiveness trial across 29 publicly funded mental health programs. Non-autism spectrum disorder diagnoses were assessed using an adapted Mini-International Neuropsychiatric Interview, parent version. Approximately 92% of children met criteria for at least one non-autism spectrum disorder diagnosis (78% attention deficit hyperactivity disorder, 58% oppositional defiant disorder, 56% anxiety, 30% mood). Logistic regression indicated that child gender and clinical characteristics were differentially associated with meeting criteria for attention deficit hyperactivity disorder, oppositional defiant disorder, an anxiety, or a mood disorder. Exploratory analyses supported a link between challenging behaviors and mood disorder symptoms and revealed high prevalence of these symptoms in this autism spectrum disorder population. Findings provide direction for tailoring intervention to address a broad range of clinical issues for youth with autism spectrum disorder served in mental health settings.

  9. Impact of dissociation on treatment of depressive and anxiety spectrum disorders with and without personality disorders

    Directory of Open Access Journals (Sweden)

    Prasko J

    2016-10-01

    Full Text Available Jan Prasko,1 Ales Grambal,1 Petra Kasalova,1 Dana Kamardova,1 Marie Ociskova,1 Michaela Holubova,1,2 Kristyna Vrbova,1 Zuzana Sigmundova,1 Klara Latalova,1 Milos Slepecky,3 Marta Zatkova3 1Department of Psychiatry, Faculty of Medicine and Dentistry, Palacky University in Olomouc, University Hospital Olomouc, Olomouc, 2Psychiatric Department, Hospital Liberec, Liberec, Czech Republic; 3Department of Psychology Sciences, Faculty of Social Science and Health Care, Constantine the Philosopher University in Nitra, Nitra, Slovak Republic Objective: The central goal of the study was to analyze the impact of dissociation on the treatment effectiveness in patients with anxiety/neurotic spectrum and depressive disorders with or without comorbid personality disorders.Methods: The research sample consisted of inpatients who were hospitalized in the psychiatric department and met the ICD-10 criteria for diagnosis of depressive disorder, panic disorder, generalized anxiety disorder, mixed anxiety–depressive disorder, agoraphobia, social phobia, obsessive compulsive disorder, posttraumatic stress disorder, adjustment disorders, dissociative/conversion disorders, somatoform disorder, or other anxiety/neurotic spectrum disorder. The participants completed these measures at the start and end of the therapeutic program – Beck Depression Inventory, Beck Anxiety Inventory, a subjective version of Clinical Global Impression-Severity, Sheehan Patient-Related Anxiety Scale, and Dissociative Experience Scale.Results: A total of 840 patients with anxiety or depressive spectrum disorders, who were resistant to pharmacological treatment on an outpatient basis and were referred for hospitalization for the 6-week complex therapeutic program, were enrolled in this study. Of them, 606 were statistically analyzed. Data from the remaining 234 (27.86% patients were not used because of various reasons (103 prematurely finished the program, 131 did not fill in most of the

  10. An Investigation of Comorbid Psychological Disorders, Sleep Problems, Gastrointestinal Symptoms and Epilepsy in Children and Adolescents with Autism Spectrum Disorder

    Science.gov (United States)

    Mannion, Arlene; Leader, Geraldine; Healy, Olive

    2013-01-01

    The current study investigated comorbidity in eighty-nine children and adolescents with Autism Spectrum Disorder in Ireland. Comorbidity is the presence of one or more disorders in addition to a primary disorder. The prevalence of comorbid psychological disorders, behaviours associated with comorbid psychopathology, epilepsy, gastrointestinal…

  11. Are circadian rhythms new pathways to understand Autism Spectrum Disorder?

    Science.gov (United States)

    Geoffray, M-M; Nicolas, A; Speranza, M; Georgieff, N

    2016-11-01

    Autism Spectrum Disorder (ASD) is a frequent neurodevelopmental disorder. ASD is probably the result of intricate interactions between genes and environment altering progressively the development of brain structures and functions. Circadian rhythms are a complex intrinsic timing system composed of almost as many clocks as there are body cells. They regulate a variety of physiological and behavioral processes such as the sleep-wake rhythm. ASD is often associated with sleep disorders and low levels of melatonin. This first point raises the hypothesis that circadian rhythms could have an implication in ASD etiology. Moreover, circadian rhythms are generated by auto-regulatory genetic feedback loops, driven by transcription factors CLOCK and BMAL1, who drive transcription daily patterns of a wide number of clock-controlled genes (CCGs) in different cellular contexts across tissues. Among these, are some CCGs coding for synapses molecules associated to ASD susceptibility. Furthermore, evidence emerges about circadian rhythms control of time brain development processes. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. A Rorschach investigation of Autism Spectrum Disorders in Adulthood:

    Directory of Open Access Journals (Sweden)

    Manuela Crucitti

    2015-12-01

    Full Text Available Autism is a pervasive developmental disorder characterized by deficits in the areas of communication, socialization and behavior. Current diagnostic criteria have been modified in a restrictive sense, thus the possibility that individuals with milder impairments may not reach the diagnostic threshold is concrete. Furthermore, heterogeneity in phenotypic expression and the high rate of comorbidity with other psychiatric disorders would make even more difficult the diagnostic classification in individuals with autism spectrum disorder (ASD. The present study was a Rorschach investigation aimed to identify specific psychopathological elements to properly orient the diagnosis of ASD in adulthood. Results have shown that the examined subjects were characterized by pragmatism, documented by the presence of details and little details, falls in formal thinking, thought inflexibility, lack of answers with human content, and the prevalence of particular phenomena (denial, perseveration. Data obtained in the study showed a specific pattern of psychopathological signs in adults with ASD, thus suggesting the importance of projective methods for a better understanding of the clinical features of avoidance behaviors and relationships.

  13. Is anorexia nervosa a version of autism spectrum disorders?

    Science.gov (United States)

    Oldershaw, Anna; Treasure, Janet; Hambrook, David; Tchanturia, Kate; Schmidt, Ulrike

    2011-01-01

    Similarities have been noted between cognitive profiles of anorexia nervosa (AN) and autism spectrum disorders (ASD). However, there are no direct comparison studies. This study aimed to compare the cognitive profile of AN against published ASD data on tasks measuring empathy, executive function and central coherence. Currently ill AN outpatients (n = 40) were statistically compared against published ASD scores on Reading the Mind in the Eyes, Voice and Films tasks (assessing empathy), Wisconsin Card Sorting Task (WCST) (assessing executive function) and Embedded Figures Task (EFT) (assessing detail focus aspect of central coherence). Cognitive profiles of the groups were statistically similar, except for differences in the relative patterns of empathy scores. The cognitive profile in current AN resembles that of ASD with important clinical implications. Replication studies with planned comparisons, examination of the state-or trait-nature of AN profile and clarification of factors underpinning similarities are required in order to broaden understanding of both disorders. Copyright © 2011 John Wiley & Sons, Ltd and Eating Disorders Association.

  14. The Role of the Immune System in Autism Spectrum Disorder.

    Science.gov (United States)

    Meltzer, Amory; Van de Water, Judy

    2017-01-01

    Autism is a neurodevelopmental disorder characterized by deficits in communication and social skills as well as repetitive and stereotypical behaviors. While much effort has focused on the identification of genes associated with autism, research emerging within the past two decades suggests that immune dysfunction is a viable risk factor contributing to the neurodevelopmental deficits observed in autism spectrum disorders (ASD). Further, it is the heterogeneity within this disorder that has brought to light much of the current thinking regarding the subphenotypes within ASD and how the immune system is associated with these distinctions. This review will focus on the two main axes of immune involvement in ASD, namely dysfunction in the prenatal and postnatal periods. During gestation, prenatal insults including maternal infection and subsequent immunological activation may increase the risk of autism in the child. Similarly, the presence of maternally derived anti-brain autoantibodies found in ~20% of mothers whose children are at risk for developing autism has defined an additional subphenotype of ASD. The postnatal environment, on the other hand, is characterized by related but distinct profiles of immune dysregulation, inflammation, and endogenous autoantibodies that all persist within the affected individual. Further definition of the role of immune dysregulation in ASD thus necessitates a deeper understanding of the interaction between both maternal and child immune systems, and the role they have in diagnosis and treatment.

  15. Perception-action coupling and imitation in autism spectrum disorder.

    Science.gov (United States)

    Nadel, Jacqueline

    2015-04-01

    This paper focuses on the key function of imitation in motor and social development of typically developing infants and low-functioning children with autism spectrum disorder (ASD). We suggest that it might also be a developmental cornerstone for other neurodevelopmental disorders. Why this suggestion? First, imitation just requires relating one's motor patterns to perceived motor patterns. This is always possible if the actions seen are not beyond the individual's motor scope; for instance, newborn infants can already imitate tongue protrusion, eye blinking, or mouth opening, because these movements are part of their foetal repertoire. Second, imitation is a 'use it or lose it' capacity: the more it is used, the more the repertoire grows (plasticity). Finally, imitation is an efficient tool for two main adaptive functions: learning and communication. Imitation-based communication is available through the use of the two facets of imitation: imitating and being imitated. The two facets afford two roles that the partners can exchange as a turn-taking while they synchronize matched activities. Neuroimaging studies of interactive imitation have shown that such communicative systems involve a coordination of bottom-up and top-down processes. In this line, imitation is a booster of development that can also be of benefit for children with neurodevelopmental disorders. © 2015 The Authors. Developmental Medicine & Child Neurology © 2015 Mac Keith Press.

  16. The role of neurexins in schizophrenia and autistic spectrum disorder.

    Science.gov (United States)

    Reichelt, A C; Rodgers, R J; Clapcote, S J

    2012-03-01

    Schizophrenia and autistic spectrum disorder (ASD) are common, chronic mental conditions with both genetic and environmental components to their aetiology. The identification of genes influencing susceptibility to these disorders offers a rational route towards a clearer understanding of the neurobiology, and with this the prospect of treatment and prevention strategies tailored towards the remediation of the altered pathways. Copy number variants (CNVs) underlie many serious illnesses, including neurological and neurodevelopmental syndromes. Recent studies assessing copy number variation in ASD and schizophrenia have repeatedly observed heterozygous deletions eliminating exons of the neurexin-1α gene (but not the neurexin-1β gene) in patients with ASD and schizophrenia. The neurexins are synaptic adhesion proteins that are known to play a key role in synaptic formation and maintenance. The functional significance of the recurrent deletion is poorly understood, but the availability of mice with deletion of the promoter and first exon of neurexin-1α provides direct access to the biological effects of neurexin-1α disruption on phenotypes relevant to ASD and schizophrenia. We review the evidence for the role of neurexin-1α in schizophrenia and ASD, and consider how genetic disruption of neurexin-1α may underpin the neuropathology contributing to these distinct neurodevelopmental disorders. Copyright © 2011 Elsevier Ltd. All rights reserved.

  17. Obsessive-compulsive disorder and its related disorders: a reappraisal of obsessive-compulsive spectrum concepts.

    Science.gov (United States)

    Murphy, Dennis L; Timpano, Kiara R; Wheaton, Michael G; Greenberg, Benjamin D; Miguel, Euripedes C

    2010-01-01

    Obsessive-compulsive disorder (OCD) is a clinical syndrome whose hallmarks are excessive, anxiety-evoking thoughts and compulsive behaviors that are generally recognized as unreasonable, but which cause significant distress and impairment. When these are the exclusive symptoms, they constitute uncomplicated OCD. OCD may also occur in the context of other neuropsychiatric disorders, most commonly other anxiety and mood disorders. The question remains as to whether these combinations of disorders should be regarded as independent, cooccurring disorders or as different manifestations of an incompletely understood constellation of OCD spectrum disorders with a common etiology. Additional considerations are given here to two potential etiology-based subgroups: (i) an environmentally based group in which OCD occurs following apparent causal events such as streptococcal infections, brain injury, or atypical neuroleptic treatment; and (ii) a genomically based group in which OCD is related to chromosomal anomalies or specific genes. Considering the status of current research, the concept of OCD and OCD-related spectrum conditions seems fluid in 2010, and in need of ongoing reappraisal.

  18. QUANTITATIVE EEG COMPARATIVE ANALYSIS BETWEEN AUTISM SPECTRUM DISORDER (ASD AND ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD

    Directory of Open Access Journals (Sweden)

    Plamen D. Dimitrov

    2017-01-01

    Full Text Available Background: Autism is a mental developmental disorder, manifested in the early childhood. Attention deficit hyperactivity disorder is another psychiatric condition of the neurodevelopmental type. Both disorders affect information processing in the nervous system, altering the mechanisms which control how neurons and their synapses are connected and organized. Purpose: To examine if quantitative EEG assessment is sensitive and simple enough to differentiate autism from attention deficit hyperactivity disorder and neurologically typical children. Material and methods: Quantitative EEG is a type of electrophysiological assessment that uses computerized mathematical analysis to convert the raw waveform data into different frequency ranges. Each frequency range is averaged across a sample of data and quantified into mean amplitude (voltage in microvolts mV. We performed quantitative EEG analysis and compared 4 cohorts of children (aged from 3 to 7 years: with autism (high [n=27] and low [n=52] functioning, with attention deficit hyperactivity disorder [n=34], and with typical behavior [n75]. Results: Our preliminary results show that there are significant qEEG differences between the groups of patients and the control cohort. The changes affect the potential levels of delta-, theta-, alpha-, and beta- frequency spectrums. Conclusion: The present study shows some significant quantitative EEG findings in autistic patients. This is a step forward in our efforts, aimed at defining specific neurophysiologic changes, in order to develop and refine strategies for early diagnosis of autism spectrum disorders, differentiation from other development conditions in childhood, detection of specific biomarkers and early initiation of treatment.

  19. Evaluating and Enhancing Driving Ability among Teens with Autism Spectrum Disorder

    Science.gov (United States)

    2015-06-01

    spectrum disorder (ASD). Autism also has a significant effect on military families . Autism Speaks, a science and advocacy organization, estimates that...AWARD NUMBER: W81XWH-12-1-0610 TITLE: Evaluating and Enhancing Driving Ability among Teens with Autism Spectrum Disorder PRINCIPAL INVESTIGATOR...Evaluating and Enhancing Driving Ability among Teens with Autism Spectrum Disorder 5a. CONTRACT NUMBER W81XWH-12-1-0610 5b. GRANT NUMBER 5c. PROGRAM

  20. Three dimensions of oppositionality in autism spectrum disorder.

    Science.gov (United States)

    Mandy, William; Roughan, Laura; Skuse, David

    2014-02-01

    In autism spectrum disorder (ASD), symptoms of oppositional defiant disorder (ODD) are common but poorly understood. DSM-5 has adopted a tripartite model of ODD, parsing its features into 'angry and irritable symptoms' (AIS), 'argumentative and defiant behavior' (ADB) and 'vindictiveness'. This was based on findings in non-autistic populations that each of these dimensions of oppositionality has a distinct constellation of associations with internalising and externalising psychopathology. We applied the tripartite DSM-5 ODD model to ASD to test its generalisability beyond non-ASD populations; and to elucidate the nature of ODD symptoms in ASD. Participants were 216 verbally-fluent young people (mean age = 9.6 years, range 3.0 to 16.2 years, 82 % male) with ASD. Cross-sectional parent-and teacher-report data were analysed using bootstrap multiple regression to test the following predictions, derived from studies of non-ASD young people: (1) AIS will be the main predictor of internalising problems; (2) ADB will be the main predictor of ADHD symptoms; (3) all ODD traits will independently predict conduct disorder symptoms; (4) vindictiveness will be the main predictor of aggressive conduct problems. Our findings using both parent and teacher data were consistent with the non-ASD ODD literature. AIS were associated with internalising but not externalising problems; ADB and vindictiveness were associated with externalising but not internalising problems; and vindictiveness was the main predictor of aggression. The DSM-5 tripartite model of ODD appears to be generalisable to ASD: for people with an autistic disorder, AIS, ADB and vindictive dimensions of oppositionality have distinct associations with concurrent psychopathology, suggesting the need to assess them as separate constructs.