FN Thomson Reuters Web of Science™ VR 1.0 PT J AU Bakhtiari, R Sephavand, NM Ahmadabadi, MN Araabi, BN Esteky, H AF Bakhtiari, Reyhaneh Sephavand, Nazanin Mohammadi Ahmadabadi, Majid Nili Araabi, Babak Nadjar Esteky, Hossein TI Computational model of excitatory/inhibitory ratio imbalance role in attention deficit disorders SO JOURNAL OF COMPUTATIONAL NEUROSCIENCE LA English DT Article DE Autism; Attention deficit; Excitatory/inhibitory ratio; Competition ID SELECTIVE VISUAL-ATTENTION; STIMULUS OVER-SELECTIVITY; AUTISM SPECTRUM DISORDERS; INFERIOR TEMPORAL CORTEX; BIASED COMPETITION; BINOCULAR-RIVALRY; INFEROTEMPORAL CORTEX; CORTICAL NETWORK; NEURAL RESPONSES; MODULATION AB Impairments in attentional behaviors, including over-selectivity, under-selectivity, distractibility and difficulty in shift of attention, are widely reported in several developmental disorders, including autism. Uncharacteristic inhibitory to excitatory neuronal number ratio (IER) and abnormal synaptic strength levels in the brain are two broadly accepted neurobiological disorders observed in autistic individuals. These neurobiological findings are contrasting and their relation to the atypical attentional behaviors is not clear yet. In this paper, we take a computational approach to investigate the relation of imbalanced IER and abnormal synaptic strength to some well-documented spectrum of attentional impairments. The computational model is based on a modified version of a biologically plausible neural model of two competing minicolumns in IT cortex augmented with a simple model of top-down attention. Top-down attention is assumed to amplify (attenuates) attended (unattended) stimulus. The inhibitory synaptic strength parameter in the model is set such that typical attentional behavior is emerged. Then, according to related findings, the parameter is changed and the model's attentional behavior is considered. The simulation results show that, without any change in top-down attention, the abnormal inhibitory synaptic strength values - and IER imbalance- result in over-selectivity, under-selectivity, distractibility and difficulty in shift of attention in the model. It suggests that the modeled neurobiological abnormalities can be accounted for the attentional deficits. In addition, the atypical attentional behaviors do not necessarily point to impairments in top-down attention. Our simulations suggest that limited changes in the inhibitory synaptic strength and variations in top-down attention signal affect the model's attentional behaviors in the same way. So, limited deficits in the inhibitory strength may be alleviated by appropriate change in top-down attention biasing. Nevertheless, our model proposes that this compensation is not possible for very high and very low values of the inhibitory strength. C1 [Bakhtiari, Reyhaneh; Sephavand, Nazanin Mohammadi; Ahmadabadi, Majid Nili; Araabi, Babak Nadjar] Univ Tehran, Sch Elect & Comp Engn, Coll Engn, Tehran, Iran. [Bakhtiari, Reyhaneh; Sephavand, Nazanin Mohammadi; Ahmadabadi, Majid Nili; Araabi, Babak Nadjar; Esteky, Hossein] Inst Res Fundamental Sci IPM, Sch Cognit Sci, Tehran, Iran. [Esteky, Hossein] Univ Shaheed Beheshti Med Sci, Res Ctr Brain & Cognit Sci, Shaheed Beheshti Sch Med, Tehran, Iran. RP Bakhtiari, R (reprint author), Univ Tehran, Sch Elect & Comp Engn, Coll Engn, Tehran, Iran. EM r.bakhtiari@ece.ut.ac.ir; n.mohammadi@ece.ut.ac.ir; mnili@ut.ac.ir; araabi@ut.ac.ir; esteky@ipm.ir CR Allen G., 2001, FRONTIERS BIOSCIENCE, V6, P105 Baron-Cohen S., 1995, MIND BLINDNESS ESSAY Belmonte M. 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PD OCT PY 2012 VL 33 IS 2 BP 389 EP 404 DI 10.1007/s10827-012-0391-y PG 16 WC Mathematical & Computational Biology; Neurosciences SC Mathematical & Computational Biology; Neurosciences & Neurology GA 005BN UT WOS:000308725400009 PM 22566142 ER PT J AU Koegel, LK Vernon, TW Koegel, RL Koegel, BL Paullin, AW AF Koegel, Lynn K. Vernon, Ty W. Koegel, Robert L. Koegel, Brittany L. Paullin, Anne W. TI Improving Social Engagement and Initiations Between Children With Autism Spectrum Disorder and Their Peers in Inclusive Settings SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS LA English DT Article DE initiations; inclusion; peers; socialization; social communication; autism ID ASPERGER-SYNDROME; YOUNG-CHILDREN; SKILLS; INTERVENTIONS; DISABILITIES; INDIVIDUALS; LONELINESS; VALIDITY; STUDENTS; BEHAVIOR AB Research suggests that incorporating the circumscribed ritualistic interests of children with autism as a theme of activities can improve their socialization. The current study assessed whether socialization would improve if more general interests of children on the autism spectrum that would also be of interest to their typical peers were incorporated into activities. Three children with autism, who were included in regular education classes but did not seek out or interact with peers prior to intervention, participated. Data were collected in the context of a multiple baseline across-participants design, with a reversal for one child. Activities that were identified to be of interest to the study participants and their typical peers were implemented as clubs twice weekly during regular lunchtime periods. Results showed that all three children demonstrated large increases in their time engaged with peers as a result of the activities, with minimal training of the interventionist and without any specialized training of the children with autism or their peers. Furthermore, their untargeted verbal initiations greatly improved over baseline levels and often approximated the levels of their peers. Implications for further improving peer social interactions for children with Autism Spectrum Disorder are discussed. C1 [Koegel, Lynn K.] Univ Calif Santa Barbara, Grad Sch Educ, Autism Res Ctr, CCS Psychol Clin, Santa Barbara, CA 93106 USA. [Paullin, Anne W.] Harvard Univ, Cambridge, MA 02138 USA. RP Koegel, LK (reprint author), Univ Calif Santa Barbara, Grad Sch Educ, Autism Res Ctr, CCS Psychol Clin, Santa Barbara, CA 93106 USA. 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L., 2006, PIVOTAL RESPONSE TRE McConnell SR, 2002, J AUTISM DEV DISORD, V32, P351, DOI 10.1023/A:1020537805154 McGee GG, 1997, J AUTISM DEV DISORD, V27, P353, DOI 10.1023/A:1025849220209 Morrison L., 2001, J POSIT BEHAV INTERV, V3, P237, DOI DOI 10.1177/109830070100300405 Pierce K., 1997, FOCUS AUTISM OTHER D, V12, P207 Rogers SJ, 2000, J AUTISM DEV DISORD, V30, P399, DOI 10.1023/A:1005543321840 Scott TM, 2007, J POSIT BEHAV INTERV, V9, P102, DOI 10.1177/10983007070090020101 Stewart ME, 2006, AUTISM, V10, P103, DOI 10.1177/1362361306062013 Strain P. S., 2001, FOCUS AUTISM OTHER D, V16, P120, DOI DOI 10.1177/108835760101600208 NR 30 TC 14 Z9 14 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1098-3007 J9 J POSIT BEHAV INTERV JI J. Posit. Behav. Interv. PD OCT PY 2012 VL 14 IS 4 BP 220 EP 227 DI 10.1177/1098300712437042 PG 8 WC Psychology, Clinical; Education, Special SC Psychology; Education & Educational Research GA 000UD UT WOS:000308413400004 ER PT J AU Walton, KM Ingersoll, BR AF Walton, Katherine M. Ingersoll, Brooke R. TI Evaluation of a Sibling-Mediated Imitation Intervention for Young Children With Autism SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS LA English DT Article DE children with autism; family-based interventions; siblings; imitation ID BEHAVIORAL INTERVENTION; RECIPROCAL INTERACTIONS; SOCIAL-INTERACTION; JOINT ATTENTION; SKILLS; PLAY; PEER; DEFICITS AB Parents and peers have been successful at implementing interventions targeting social interactions in children with autism; however, few interventions have trained siblings as treatment providers. This study used a multiple-baseline design across six sibling dyads (four children with autism) to evaluate the efficacy of sibling-implemented reciprocal imitation training. All six typically developing siblings were able to learn and use contingent imitation, four of the six siblings were able to learn and use linguistic mapping, and all six siblings increased their use of at least one component of the imitation training procedure. Three of the four children with autism showed increases in overall imitation and all four showed evidence of increases in joint engagement. Parents and siblings reported high satisfaction with the intervention, and ratings by naive observers indicated significant changes from pre- to posttreatment. These results suggest that sibling-implemented reciprocal imitation training may be a promising intervention for young children with autism. C1 [Walton, Katherine M.; Ingersoll, Brooke R.] Michigan State Univ, E Lansing, MI 48824 USA. RP Walton, KM (reprint author), Michigan State Univ, 69F Psychol Bldg, E Lansing, MI 48824 USA. 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Posit. Behav. Interv. PD OCT PY 2012 VL 14 IS 4 BP 241 EP 253 DI 10.1177/1098300712437044 PG 13 WC Psychology, Clinical; Education, Special SC Psychology; Education & Educational Research GA 000UD UT WOS:000308413400006 ER PT J AU Kandalaft, MR Didehbani, N Cullum, CM Krawczyk, DC Allen, TT Tamminga, CA Chapman, SB AF Kandalaft, Michelle R. Didehbani, Nyaz Cullum, C. Munro Krawczyk, Daniel C. Allen, Tandra T. Tamminga, Carol A. Chapman, Sandra B. TI The Wechsler ACS Social Perception Subtest: A Preliminary Comparison With Other Measures of Social Cognition SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT LA English DT Article DE advanced clinical solutions; WAIS-IV; social perception; Asperger; schizophrenia; social cognition ID HIGH-FUNCTIONING AUTISM; EMOTION RECOGNITION; ASPERGER-SYNDROME; ECOLOGICAL VALIDITY; PARKINSONS-DISEASE; SCHIZOPHRENIA; MIND; ADULTS; ATTRIBUTION; PERFORMANCE AB Relative to other cognitive areas, there are few clinical measures currently available to assess social perception. A new standardized measure, the Wechsler Advanced Clinical Solutions (ACS) Social Perception subtest, addresses some limitations of existing measures; however, little is known about this new test. The first goal of this investigation was to preliminarily explore the relationship of the ACS Social Perception subtest to five other measures of social perception and cognition in a sample of control subjects and individuals with Asperger Syndrome and schizophrenia. A secondary goal was to preliminarily explore the differences between groups on six measures of social perception and cognition. Results revealed several significant correlations between the ACS Social Perception subtest and other measures of social cognition, and some evidence for the distinguishing abilities of the measure. The ACS Social Perception subtest appears to be a promising measure for the evaluation of social perceptive skills. C1 [Kandalaft, Michelle R.] Univ Texas Dallas, Ctr BrainHlth, Dallas, TX 75235 USA. [Cullum, C. Munro; Krawczyk, Daniel C.; Tamminga, Carol A.] Univ Texas SW Med Ctr Dallas, Dallas, TX USA. RP Kandalaft, MR (reprint author), Univ Texas Dallas, Ctr BrainHlth, 2200 W Mockingbird Lane, Dallas, TX 75235 USA. 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TI Autism Spectrum Disorders Through the Life Span SO PSYCHOLOGICAL MEDICINE LA English DT Book Review EM tsb@le.ac.uk CR TANTAM D, 2011, AUTISM SPECTRUM DISO NR 1 TC 0 Z9 0 PU CAMBRIDGE UNIV PRESS PI NEW YORK PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA SN 0033-2917 J9 PSYCHOL MED JI Psychol. Med. PD OCT PY 2012 VL 42 IS 10 BP 2236 EP 2237 DI 10.1017/S0033291712001602 PG 2 WC Psychology, Clinical; Psychiatry; Psychology SC Psychology; Psychiatry GA 006UR UT WOS:000308845200022 ER PT J AU Meltzer, LJ Montgomery-Downs, HE Insana, SP Walsh, CM AF Meltzer, Lisa J. Montgomery-Downs, Hawley E. Insana, Salvatore P. Walsh, Colleen M. TI Use of actigraphy for assessment in pediatric sleep research SO SLEEP MEDICINE REVIEWS LA English DT Review DE Accelerometer; Actigraphy; Adolescents; Children; Infants; Pediatric; Sleep; Wake ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SCHOOL-AGE-CHILDREN; DEFICIT-HYPERACTIVITY DISORDER; HIGH-FUNCTIONING AUTISM; MELATONIN IMPROVES SLEEP; REST-ACTIVITY RHYTHM; INFANT SLEEP; ONSET INSOMNIA; WAKE PATTERNS; ASPERGER-SYNDROME AB The use of actigraphs, or ambulatory devices that estimate sleep-wake patterns from activity levels, has become common in pediatric research. Actigraphy provides a more objective measure than parent-report, and has gained popularity due to its ability to measure sleep-wake patterns for extended periods of time in the child's natural environment. The purpose of this review is: 1) to provide comprehensive information on the historic and current uses of actigraphy in pediatric sleep research; 2) to review how actigraphy has been validated among pediatric populations; and 3) offer recommendations for methodological areas that should be included in all studies that utilize actigraphy, including the definition and scoring of variables commonly reported. The poor specificity to detect wake after sleep onset was consistently noted across devices and age groups, thus raising concerns about what is an "acceptable" level of specificity for actigraphy. Other notable findings from this review include the lack of standard scoring rules or variable definitions. Suggestions for the use and reporting of actigraphy in pediatric research are provided. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Meltzer, Lisa J.] Natl Jewish Hlth, Denver, CO 80206 USA. [Montgomery-Downs, Hawley E.] W Virginia Univ, Morgantown, WV 26506 USA. [Insana, Salvatore P.] Univ Pittsburgh, Med Ctr, Pittsburgh, PA 15213 USA. [Walsh, Colleen M.] Drexel Univ, Philadelphia, PA 19104 USA. RP Meltzer, LJ (reprint author), Natl Jewish Hlth, 1400 Jackson St,G311, Denver, CO 80206 USA. EM meltzerL@njhealth.org; Hawley.Montgomery-Downs@mail.wvu.edu; insanas@upmc.edu; Colleen.walsh@uphs.upenn.edu FU [K23 MH066772] FX We thank Devon Ambler for her assistance with the references. Support for this manuscript was provided by K23 MH066772. 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SO ANALES DE PSICOLOGIA LA Spanish DT Article DE Autism Spectrum Disorder; High Functioning Autism; Asperger's Disorder; Comorbidity; Anxiety ID OBSESSIVE-COMPULSIVE DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGER-SYNDROME; PSYCHIATRIC-DISORDERS; REPETITIVE BEHAVIORS; SOCIAL ANXIETY; YOUNG-PEOPLE; CHILDREN; ADOLESCENTS; SYMPTOMS AB The aim of this study is to review the state of the art of research on comorbidity of Autism Spectrum Disorder-High Functioning (ASD-AF) and anxiety disorders with a threefold purpose: a) to analyse the methodological problems of research studies, b) to present hypothesis on comorbidity, adopting an approach taking into account the new proposal of DSM-V (APA, 2011), and c) to suggest future research lines. Our study concludes that there is an urgent need to develop specific strategies and instruments that help the differential assessment of comorbidity symptomatology and that favour proposals of more efficient treatments. 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Neurobiol. PD OCT PY 2012 VL 72 IS 10 SI SI BP 1269 EP 1271 DI 10.1002/dneu.22054 PG 3 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 001NN UT WOS:000308467500001 PM 22927111 ER PT J AU Brown, AS AF Brown, Alan S. TI Epidemiologic studies of exposure to prenatal infection and risk of schizophrenia and autism SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE schizophrenia; infection; influenza; epidemiology; toxoplasmosis; birth cohort ID HERPES-SIMPLEX-VIRUS; ADULT SCHIZOPHRENIA; MATERNAL EXPOSURE; SPECTRUM DISORDERS; REPRODUCTIVE INFECTIONS; IMMUNE ACTIVATION; COMMON VARIANTS; BIRTH COHORT; ASSOCIATION; PREGNANCY AB In this review, we provide a synopsis of work on the epidemiologic evidence for prenatal infection in the etiology of schizophrenia and autism. In birth cohort studies conducted by our group and others, in utero exposure to infectious agents, prospectively obtained after biomarker assays of archived maternal sera and by obstetric records was related to an increased risk of schizophrenia. Thus far, it has been demonstrated that prenatal exposure to influenza, increased toxoplasma antibody, genitalreproductive infections, rubella, and other pathogens are associated with schizophrenia. Anomalies of the immune system, including enhanced maternal cytokine levels, are also related to schizophrenia. Some evidence also suggests that maternal infection and immune dysfunction may be associated with autism. Although replication is required, these findings suggest that public health interventions targeting infectious exposures have the potential for preventing cases of schizophrenia and autism. Moreover, this work has stimulated translational research on the neurobiological and genetic determinants of these conditions. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012 C1 Columbia Univ, Coll Phys & Surg, New York State Psychiat Inst, New York, NY 10027 USA. RP Brown, AS (reprint author), Columbia Univ, Coll Phys & Surg, New York State Psychiat Inst, New York, NY 10027 USA. EM asb11@columbia.edu FU National Institute of Mental Health (NIMH) [2K02-MH065422]; National Institute of Environmental Health Sciences (NIEHS) [5R01ES019004-02]; National Alliance for Research on Schizophrenia and Depression (NARSAD) Independent Investigator Award FX Contract grant sponsor: National Institute of Mental Health (NIMH); contract grant number: 2K02-MH065422 (A.S.B).Contract grant sponsor: National Institute of Environmental Health Sciences (NIEHS); contract grant number: 5R01ES019004-02.Contract grant sponsor: National Alliance for Research on Schizophrenia and Depression (NARSAD) Independent Investigator Award (A.S.B). 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Neurobiol. PD OCT PY 2012 VL 72 IS 10 SI SI BP 1272 EP 1276 DI 10.1002/dneu.22024 PG 5 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 001NN UT WOS:000308467500002 PM 22488761 ER PT J AU Michel, M Schmidt, MJ Mirnics, K AF Michel, Maximilian Schmidt, Martin J. Mirnics, Karoly TI Immune system gene dysregulation in autism and schizophrenia SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE schizophrenia; autism; immune; environment; maternal immune activation ID GENOME-WIDE ASSOCIATION; PLACEBO-CONTROLLED TRIAL; FETAL-BRAIN DEVELOPMENT; GLIAL TNF-ALPHA; SPECTRUM DISORDERS; PRENATAL INFECTION; MONOZYGOTIC TWINS; COMMON VARIANTS; ANIMAL-MODELS; DOUBLE-BLIND AB Gene*environment interactions play critical roles in the emergence of autism and schizophrenia pathophysiology. In both disorders, recent genetic association studies have provided evidence for disease-linked variation in immune system genes and postmortem gene expression studies have shown extensive chronic immune abnormalities in brains of diseased subjects. Furthermore, peripheral biomarker studies revealed that both innate and adaptive immune systems are dysregulated. In both disorders symptoms of the disease correlate with the immune system dysfunction; yet, in autism this process appears to be chronic and sustained, while in schizophrenia it is exacerbated during acute episodes. Furthermore, since immune abnormalities endure into adulthood and anti-inflammatory agents appear to be beneficial, it is likely that these immune changes actively contribute to disease symptoms. Modeling these changes in animals provided further evidence that prenatal maternal immune activation alters neurodevelopment and leads to behavioral changes that are relevant for autism and schizophrenia. The converging evidence strongly argues that neurodevelopmental immune insults and genetic background critically interact and result in increased risk for either autism or schizophrenia. Further research in these areas may improve prenatal health screening in genetically at-risk families and may also lead to new preventive and/or therapeutic strategies. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012 C1 [Michel, Maximilian; Schmidt, Martin J.; Mirnics, Karoly] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA. [Mirnics, Karoly] Vanderbilt Univ, Kennedy Ctr Res Human Dev, Nashville, TN USA. RP Mirnics, K (reprint author), Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA. EM karoly.mirnics@vanderbilt.edu RI Mirnics, Karoly/E-6730-2010; Michel, Maximilian/A-8079-2012 OI Mirnics, Karoly/0000-0002-5521-0254; FU Vanderbilt Brain Institute Scholars Award; NIH [R01 MH067234, R01 MH079299] FX Training support for Martin J. Schmidt was provided by a Vanderbilt Brain Institute Scholars Award.Contract grant sponsor: NIH; contract grant numbers: R01 MH067234, R01 MH079299. 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Neurobiol. PD OCT PY 2012 VL 72 IS 10 SI SI BP 1277 EP 1287 DI 10.1002/dneu.22044 PG 11 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 001NN UT WOS:000308467500003 PM 22753382 ER PT J AU Needleman, LA McAllister, AK AF Needleman, Leigh A. McAllister, A. Kimberley TI The major histocompatibility complex and autism spectrum disorder SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE maternal infection; neuroimmunology; genetics; synapse formation; synaptic plasticity ID MHC CLASS-I; CENTRAL-NERVOUS-SYSTEM; CONGENITAL CYTOMEGALOVIRUS-INFECTION; OCULAR-DOMINANCE PLASTICITY; PRENATAL IMMUNE CHALLENGE; PARENTAL HLA ANTIGENS; NECROSIS-FACTOR-ALPHA; GLIAL TNF-ALPHA; SYNAPTIC PLASTICITY; GENE-EXPRESSION AB Autism spectrum disorder (ASD) is a complex disorder that appears to be caused by interactions between genetic changes and environmental insults during early development. A wide range of factors have been linked to the onset of ASD, but recently both genetic associations and environmental factors point to a central role for immune-related genes and immune responses to environmental stimuli. Specifically, many of the proteins encoded by the major histocompatibility complex (MHC) play a vital role in the formation, refinement, maintenance, and plasticity of the brain. Manipulations of levels of MHC molecules have illustrated how disrupted MHC signaling can significantly alter brain connectivity and function. Thus, an emerging hypothesis in our field is that disruptions in MHC expression in the developing brain caused by mutations and/or immune dysregulation may contribute to the altered brain connectivity and function characteristic of ASD. This review provides an overview of the structure and function of the three classes of MHC molecules in the immune system, healthy brain, and their possible involvement in ASD. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012 C1 [Needleman, Leigh A.; McAllister, A. Kimberley] Univ Calif Davis, Ctr Neurosci, Davis, CA 95618 USA. RP McAllister, AK (reprint author), Univ Calif Davis, Ctr Neurosci, Davis, CA 95618 USA. 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Neurobiol. PD OCT PY 2012 VL 72 IS 10 SI SI BP 1288 EP 1301 DI 10.1002/dneu.22046 PG 14 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 001NN UT WOS:000308467500004 PM 22760919 ER PT J AU Hsiao, EY Patterson, PH AF Hsiao, Elaine Y. Patterson, Paul H. TI Placental regulation of maternal-fetal interactions and brain development SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE intrauterine; trophoblast; autism; schizophrenia; cerebral palsy ID AUTISM SPECTRUM DISORDERS; HEMATOPOIETIC STEM-CELLS; TOLL-LIKE RECEPTOR-3; MAGNESIUM-SULFATE; IMMUNE-SYSTEM; OBSTETRIC COMPLICATIONS; INTRAUTERINE GROWTH; CEREBRAL-PALSY; PREGNANCY DISORDERS; PRENATAL INFLUENCES AB A variety prenatal insults are associated with the incidence of neurodevelopmental disorders such as schizophrenia, autism and cerebral palsy. While the precise mechanisms underlying how transient gestational challenges can lead to later life dysfunctions are largely unknown, the placenta is likely to play a key role. The literal interface between maternal and fetal cells resides in the placenta, and disruptions to the maternal or intrauterine environment are necessarily conveyed to the developing embryo via the placenta. Placental cells bear the responsibility of promoting maternal tolerance of the semiallogeneic fetus and regulating selective permeability of nutrients, gases, and antibodies, while still providing physiological protection of the embryo from adversity. The placenta's critical role in modulating immune protection and the availability of nutrients and endocrine factors to the offspring implicates its involvement in autoimmunity, growth restriction and hypoxia, all factors associated with the development of neurological complications. 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Neurobiol. PD OCT PY 2012 VL 72 IS 10 SI SI BP 1317 EP 1326 DI 10.1002/dneu.22045 PG 10 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 001NN UT WOS:000308467500006 PM 22753006 ER PT J AU Fox, E Amaral, D Van de Water, J AF Fox, Elizabeth Amaral, David Van de Water, Judy TI Maternal and fetal antibrain antibodies in development and disease SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE neuronal development; autism spectrum disorders; anti-brain antibodies; maternal antibodies ID IMMUNOGLOBULIN-G; BRAIN PROTEINS; AUTISM; AUTOANTIBODIES; CHILDREN; PREGNANCY; MOTHERS AB Recent evidence has emerged indicating that the maternal immune response can have a substantial deleterious impact on prenatal development (Croen et al., [2008]: Biol Psychiatry 64:583-588). The maternal immune response is largely sequestered from the fetus. Maternal antibodies, specifically immunoglobulin G (IgG), are passed to the fetus to provide passive immunity throughout much of pregnancy. However, both protective and pathogenic autoantibodies have equal access to the fetus (Goines and Van de Water [2010]: Curr Opin Neurol 23:111-117). If the mother has an underlying autoimmune disease or has reactivity to fetal antigens, autoantibodies produced before or during pregnancy can target tissues in the developing fetus. One such tissue is the fetal brain. The blood brainbarrier (BBB) is developing during the fetal period allowing maternal antibodies to have direct access to the brain during gestation (Diamond et al. [2009]: Nat Rev Immunol; Braunschweig et al. [2011]; Neurotoxicology 29:226-231). It has been proposed that brain injury by circulating brainspecific maternal autoantibodies might underlie multiple congenital, developmental disorders (Lee et al. [2009]: Nat Med 15:91-96). In this review, we will discuss the current state of research in the area of maternal autoantibodies and the development of autism. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012 C1 [Fox, Elizabeth; Van de Water, Judy] Univ Calif Davis, Dept Internal Med, Davis, CA 95616 USA. [Fox, Elizabeth; Amaral, David; Van de Water, Judy] Univ Calif Davis, Davis MIND Inst, Davis, CA 95616 USA. [Amaral, David] Univ Calif Davis, Dept Psychiat, Davis, CA 95616 USA. RP Van de Water, J (reprint author), Univ Calif Davis, Dept Internal Med, Davis, CA 95616 USA. EM javandewater@ucdavis.edu FU National Institute of Mental Health [R01MH80218, NIEHS 1 P01 ES11269-01]; U. S. Environmental Protection Agency (U.S.EPA) through the Science to Achieve Results (STAR) program [R829388]; California National Primate Research Center [RR00169] FX Contract grant sponsor: National Institute of Mental Health; contract grant numbers: R01MH80218, NIEHS 1 P01 ES11269-01.Contract grant sponsor: the U. S. Environmental Protection Agency (U.S.EPA) through the Science to Achieve Results (STAR) program; contract grant number: R829388.Contract grant sponsor: California National Primate Research Center; contract grant number: RR00169. 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Neurobiol. PD OCT PY 2012 VL 72 IS 10 SI SI BP 1327 EP 1334 DI 10.1002/dneu.22052 PG 8 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 001NN UT WOS:000308467500007 PM 22911883 ER PT J AU Harvey, L Boksa, P AF Harvey, Louise Boksa, Patricia TI Prenatal and postnatal animal models of immune activation: Relevance to a range of neurodevelopmental disorders SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE prenatal; postnatal; infection; immune activation; neurodevelopment; disease ID DEVELOPING RAT-BRAIN; AUTISM SPECTRUM DISORDERS; DOPAMINE NEURON LOSS; WHITE-MATTER INJURY; BACTERIAL-ENDOTOXIN EXPOSURE; DISRUPTED LATENT INHIBITION; NONHUMAN PRIMATE MODELS; INDUCED PRETERM BIRTH; MATERNAL INFECTION; CEREBRAL-PALSY AB Epidemiological evidence has established links between immune activation during the prenatal or early postnatal period and increased risk of developing a range of neurodevelopment disorders in later life. Animal models have been used to great effect to explore the ramifications of immune activation during gestation and neonatal life. A range of behavioral, neurochemical, molecular, and structural outcome measures associated with schizophrenia, autism, cerebral palsy, and epilepsy have been assessed in models of prenatal and postnatal immune activation. However, the epidemiology-driven disease-first approach taken by some studies can be limiting and, despite the wealth of data, there is a lack of consensus in the literature as to the specific dose, timing, and nature of the immunogen that results in replicable and reproducible changes related to a single disease phenotype. In this review, we highlight a number of similarities and differences in models of prenatal and postnatal immune activation currently being used to investigate the origins of schizophrenia, autism, cerebral palsy, epilepsy, and Parkinson's disease. However, we describe a lack of synthesis not only between but also within disease-specific models. Our inability to compare the equivalency dose of immunogen used is identified as a significant yet easily remedied problem. We ask whether early life exposure to infection should be described as a disease-specific or general vulnerability factor for neurodevelopmental disorders and discuss the implications that either classification has on the design, strengths and limitations offuture experiments. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012 C1 [Harvey, Louise; Boksa, Patricia] McGill Univ, Dept Psychiat, Douglas Mental Hlth Univ Inst, Verdun, PQ H4H 1R3, Canada. RP Boksa, P (reprint author), McGill Univ, Dept Psychiat, Douglas Mental Hlth Univ Inst, Verdun, PQ H4H 1R3, Canada. 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Neurobiol. PD OCT PY 2012 VL 72 IS 10 SI SI BP 1335 EP 1348 DI 10.1002/dneu.22043 PG 14 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 001NN UT WOS:000308467500008 PM 22730147 ER PT J AU O'Reilly, M Cook, L Karim, K AF O'Reilly, Michelle Cook, Laura Karim, Khalid TI Complementary or controversial care? The opinions of professionals on complementary and alternative interventions for Autistic Spectrum Disorder SO CLINICAL CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Autism; complementary therapies; perceptions; professionals; qualitative AB The use of complementary and alternative interventions is growing and gaining popularity, both in the UK and internationally, with significant financial and emotional implications. Complementary and alternative interventions are often utilised by parents of children with Autistic Spectrum Disorders and research has investigated parental beliefs. There is, however, limited understanding regarding what professionals believe about the use of alternative treatments. In this paper we explore the opinions of a range of different professionals about alternative treatments and found that while some have an open-minded opinion, there was a tendency to hold beliefs that these treatments are ineffective, that they give false hope and have potential to harm the child. We discuss the implications for this in terms of the importance of an open dialogue between professionals and families and consider the importance of this in relation to the popularity of these interventions. C1 [O'Reilly, Michelle; Karim, Khalid] Univ Leicester, Div Psychiat, Leicester LE3 0QU, Leics, England. [Cook, Laura] Univ Leicester, Leicester LE3 0QU, Leics, England. RP O'Reilly, M (reprint author), Univ Leicester, Greenwood Inst, Dept Psychol, Westcotes Dr, Leicester LE3 0QU, Leics, England. 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Psychiatry PD OCT PY 2012 VL 17 IS 4 BP 602 EP 615 DI 10.1177/1359104511435340 PG 14 WC Psychology, Clinical; Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA V32IV UT WOS:000208945800010 PM 22371629 ER PT J AU Goldman, GS Miller, NZ AF Goldman, G. S. Miller, N. Z. TI Relative trends in hospitalizations and mortality among infants by the number of vaccine doses and age, based on the Vaccine Adverse Event Reporting System (VAERS), 1990-2010 SO HUMAN & EXPERIMENTAL TOXICOLOGY LA English DT Article DE VAERS; vaccine; childhood vaccines; immunization; epidemiology; infant mortality; SIDS; drug toxicology; human toxicology ID HEPATITIS-B VACCINATION; MULTIPLE-SCLEROSIS; HEXAVALENT VACCINATION; DEATH-SYNDROME; CHILDHOOD; AUTISM; RISK AB In this study, the Vaccine Adverse Event Reporting System (VAERS) database, 1990-2010, was investigated; cases that specified either hospitalization or death were identified among 38,801 reports of infants. Based on the types of vaccines reported, the actual number of vaccine doses administered, from 1 to 8, was summed for each case. Linear regression analysis of hospitalization rates as a function of (a) the number of reported vaccine doses and (b) patient age yielded a linear relationship with r(2) = 0.91 and r(2) = 0.95, respectively. The hospitalization rate increased linearly from 11.0% (107 of 969) for 2 doses to 23.5% (661 of 2817) for 8 doses and decreased linearly from 20.1% (154 of 765) for children aged < 0.1 year to 10.7% (86 of 801) for children aged 0.9 year. The rate ratio (RR) of the mortality rate for 5-8 vaccine doses to 1-4 vaccine doses is 1.5 (95% confidence interval (CI), 1.4-1.7), indicating a statistically significant increase from 3.6% (95% CI, 3.2-3.9%) deaths associated with 1-4 vaccine doses to 5.5% (95% CI, 5.2-5.7%) associated with 5-8 vaccine doses. The male-to-female mortality RR was 1.4 (95% CI, 1.3-1.5). 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Exp. Toxicol. PD OCT PY 2012 VL 31 IS 10 BP 1012 EP 1021 DI 10.1177/0960327112440111 PG 10 WC Toxicology SC Toxicology GA 019BW UT WOS:000309712900004 PM 22531966 ER PT J AU Higashida, H Munesue, T AF Higashida, H. Munesue, T. TI CD38 and autism spectrum disorders SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Higashida, H.; Munesue, T.] Kanazawa Univ, Ctr Child Mental Dev, Kanazawa, Ishikawa, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 4 EP 5 DI 10.1111/j.1471-4159.2012.07907.x PG 2 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100006 ER PT J AU Kato, N Kanai, C Ikeda, A Yamada, T Nakamura, M Hashimoto, R AF Kato, N. Kanai, C. Ikeda, A. Yamada, T. Nakamura, M. Hashimoto, R. TI Clinical studies of adults with Asperger syndrome - exploring the neural basis of autism spectrum disorders (ASD) SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Kato, N.; Ikeda, A.; Yamada, T.; Nakamura, M.] Showa Univ, Sch Med, Dept Psychiat, Karasuyama Hosp, Tokyo 142, Japan. [Kato, N.] CREST, JST, Tokyo, Japan. [Kanai, C.] Sagami Womens Univ, Dept Educ & Child Studies, Sagamihara, Kanagawa, Japan. [Hashimoto, R.] Tokyo Metropolitan Univ, Dept Language Sci, Tokyo 158, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 4 EP 4 DI 10.1111/j.1471-4159.2012.07904.x PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100003 ER PT J AU Geschwind, D AF Geschwind, D. TI Systems biology analyses of autism spectrum disorders (ASD) SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Geschwind, D.] Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 30 EP 30 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100065 ER PT J AU Kosaka, H AF Kosaka, H. TI Neuroimaging and oxytocin effect in youth with autism spectrum disorders SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Kosaka, H.] Univ Fukui, Res Ctr Child Mental Dev, Fukui 910, Japan. [Kosaka, H.] Univ Fukui, Fac Med Sci, Dept Neuropsychiat, Fukui 910, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 30 EP 30 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100068 ER PT J AU Mori, N AF Mori, N. TI Positron emission tomography in autism spectrum disorders SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Mori, N.] Hamamatsu Univ Sch Med, Dept Psychiat, Hamamatsu, Shizuoka 4313192, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 30 EP 30 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100067 ER PT J AU Tabuchi, K AF Tabuchi, K. TI Synapse maturation and autism: The role of neuroligins and neurexins SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Tabuchi, K.] Precursory Res Embryon Sci & Technol PRESTO, Tokyo, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 30 EP 30 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100066 ER PT J AU Egawa, J Watanabe, Y Nunokawa, A Endo, T Kaneko, N Tamura, R Sugiyama, T Someya, T AF Egawa, J. Watanabe, Y. Nunokawa, A. Endo, T. Kaneko, N. Tamura, R. Sugiyama, T. Someya, T. TI Rare missense variations of TPH2 and risk of autism: Exon resequensing and association analysis SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Egawa, J.; Watanabe, Y.; Nunokawa, A.; Endo, T.; Kaneko, N.; Tamura, R.; Someya, T.] Niigata Univ, Grad Sch Med & Dent Sci, Dept Psychiat, Niigata, Japan. [Egawa, J.] Saigata Natl Hosp, Natl Hosp Org, Dept Psychiat, Niigata, Japan. [Sugiyama, T.] Hamamatsu Univ, Sch Med, Dept Child & Adolescent Psychiat, Shizuoka, Japan. [Kaneko, N.] Oojima Hosp, Niigata, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 69 EP 69 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100183 ER PT J AU Jaiswal, P Guhathakurta, S Sinha, S Mohanakumar, K Rajamma, U AF Jaiswal, P. Guhathakurta, S. Sinha, S. Mohanakumar, K. Rajamma, U. TI Genetic analysis of STin2 VNTR marker of serotonin transporter gene (SLC6A4) and its allele specific modulation of platelet serotonin level in autism spectrum disorder SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Jaiswal, P.; Guhathakurta, S.; Sinha, S.; Rajamma, U.] Manovikas Kendra Rehabil & Res Inst Handicapped, Manovikas Biomed Res & Diagnost Ctr, Kolkata, India. [Mohanakumar, K.] Indian Inst Chem Biol, Cell Biol & Physiol Div, Kolkata, India. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 70 EP 70 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100187 ER PT J AU Mouri, M Negishi, T Tashiro, T AF Mouri, M. Negishi, T. Tashiro, T. TI Alterations in neuronal maturation in a rat model of autism induced by fetal thalidomide exposure SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Mouri, M.; Negishi, T.; Tashiro, T.] Aoyama Gakuin Univ, Sch Sci & Engn, Dept Chem & Biol Sci, Tokyo 150, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 70 EP 70 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100186 ER PT J AU Xu, M Iwasaki, T Sajdel-Sulkowska, EM Shimokawa, N Koibuchi, N AF Xu, M. Iwasaki, T. Sajdel-Sulkowska, E. M. Shimokawa, N. Koibuchi, N. TI Abnormal cerebellar neurotrophin expression in autism patients and LPS-exposure rat model SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Xu, M.] Keio Univ, Sch Med, Dept Neuropsychiat, Tokyo 108, Japan. [Iwasaki, T.; Shimokawa, N.; Koibuchi, N.] Gunma Univ, Dept Integrat Physiol, Gunma, Japan. [Sajdel-Sulkowska, E. M.] Brigham & Womens Hosp, Dept Psychiat, Boston, MA 02115 USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 70 EP 70 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100188 ER PT J AU Iwata, K Nakabayashi, K Matsuzaki, H Nakamura, K Hata, K Mori, N AF Iwata, K. Nakabayashi, K. Matsuzaki, H. Nakamura, K. Hata, K. Mori, N. TI Genome-wide DNA methylation profiles in post-mortem brains from subjects with autism SO JOURNAL OF NEUROCHEMISTRY LA English DT Meeting Abstract C1 [Iwata, K.; Matsuzaki, H.] Hamamatsu Univ Sch Med, RCCMD, Hamamatsu, Shizuoka 4313192, Japan. [Nakabayashi, K.; Hata, K.] NCCHD, Dept Maternal Fetal Biol, Setagaya Ku, Tokyo, Japan. [Nakamura, K.; Mori, N.] Hamamatsu Univ Sch Med, Dept Psychiat, Hamamatsu, Shizuoka 4313192, Japan. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD OCT PY 2012 VL 123 SU 1 SI SI BP 71 EP 71 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA V31EE UT WOS:000208866100190 ER PT J AU Payakachat, N Hoefman, R Kovacs, E Van Exel, J Pyne, JM Kuhlthau, KA Tilford, J Brouwer, W AF Payakachat, Nalin Hoefman, Renske Kovacs, Erica Van Exel, Job Pyne, Jeffery M. Kuhlthau, Karen A. Tilford, John Brouwer, Werner TI Quality of life among parents of children with autism spectrum disorders: a comparison of generic instruments SO QUALITY OF LIFE RESEARCH LA English DT Meeting Abstract C1 [Payakachat, Nalin; Tilford, John] Univ Arkansas Med Sci, Little Rock, AR 72205 USA. [Hoefman, Renske; Van Exel, Job; Brouwer, Werner] Erasmus Univ, Rotterdam, Netherlands. [Kovacs, Erica] Columbia Univ, Med Ctr, Div Child & Adolescent Psychiat, New York, NY 10027 USA. [Pyne, Jeffery M.] Univ Arkansas Med Sci, Coll Med, Little Rock, AR 72205 USA. [Kuhlthau, Karen A.] Ctr Child & Adolescent Hlth Policy, Boston, MA USA. NR 0 TC 0 Z9 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 0962-9343 EI 1573-2649 J9 QUAL LIFE RES JI Qual. Life Res. PD OCT PY 2012 VL 21 SU 1 MA 306.2 BP 37 EP 38 PG 2 WC Health Care Sciences & Services; Health Policy & Services; Public, Environmental & Occupational Health SC Health Care Sciences & Services; Public, Environmental & Occupational Health GA V38QW UT WOS:000209358900101 ER PT J AU Villes, V Bartolini, AM Chatel, C Poinso, F AF Villes, Virginie Bartolini, Anne-Marie Chatel, Clarisse Poinso, Francois TI Impairment of quality of life in parents of children with autism spectrum disorder SO QUALITY OF LIFE RESEARCH LA English DT Meeting Abstract C1 [Villes, Virginie] Publ Hlth Lab, Marseilles, France. [Bartolini, Anne-Marie; Chatel, Clarisse; Poinso, Francois] Resource Autism Ctr, Marseilles, France. NR 0 TC 0 Z9 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 0962-9343 EI 1573-2649 J9 QUAL LIFE RES JI Qual. Life Res. PD OCT PY 2012 VL 21 SU 1 MA 2003 BP 73 EP 74 PG 2 WC Health Care Sciences & Services; Health Policy & Services; Public, Environmental & Occupational Health SC Health Care Sciences & Services; Public, Environmental & Occupational Health GA V38QW UT WOS:000209358900205 ER PT J AU Meadan, H Halle, JW Kelly, SM AF Meadan, Hedda Halle, James W. Kelly, Stacy M. TI Intentional Communication of Young Children with Autism Spectrum Disorder: Judgments of Different Communication Partners SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Intentional communication; Autism spectrum disorder; Communication partners ID PROFOUND MENTAL-RETARDATION; DEVELOPMENTAL-DISABILITIES; LANGUAGE; INFANTS; ACQUISITION; BEHAVIOR AB The purpose of this study was to examine judgments made by different listeners of the communicative intent, specifically requesting and rejecting, of young children with autism and limited expressive language. Video clips from a structured assessment study of three young children with autism spectrum disorder were edited and viewed by adult raters from four subgroups. Analysis of the findings indicated that those who were both familiar and expert were more accurate and more confident in their judgments than those who were unfamiliar and non-expert. There was more variation among the four subgroups of raters in accuracy related to rejecting compared to requesting behavior. It was concluded that collaboration in the determination of intention and consistency of responding to specific communicative forms among all individuals who are involved in the child's life appear to be important steps in developing common communication goals. C1 [Meadan, Hedda; Kelly, Stacy M.] Illinois State Univ, Normal, IL 61761 USA. [Halle, James W.] Univ Illinois, Champaign, IL 61820 USA. RP Meadan, H (reprint author), Illinois State Univ, Normal, IL 61761 USA. 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PD OCT PY 2012 VL 24 IS 5 BP 437 EP 450 DI 10.1007/s10882-012-9281-5 PG 14 WC Rehabilitation SC Rehabilitation GA 999WJ UT WOS:000308345700002 ER PT J AU van der Meer, L Didden, R Sutherland, D O'Reilly, MF Lancioni, GE Sigafoos, J AF van der Meer, Larah Didden, Robert Sutherland, Dean O'Reilly, Mark F. Lancioni, Giulio E. Sigafoos, Jeff TI Comparing Three Augmentative and Alternative Communication Modes for Children with Developmental Disabilities SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Augmentative and alternative communication; Developmental disabilities; Manual sign; Picture-exchange; Speech-generating devices ID SPEECH-GENERATING DEVICES; OF-THE-LITERATURE; PICTURE EXCHANGE; SINGLE-SUBJECT; MANUAL SIGNS; SYSTEM PECS; AUTISM; INTERVENTIONS; PREFERENCE; INDIVIDUALS AB We compared acquisition, maintenance, and preference for three AAC modes in four children with developmental disabilities (DD). Children were taught to make general requests for preferred items (snacks or play) using a speech-generating device (SGD), picture-exchange (PE), and manual signs (MS). The effects of intervention were evaluated in a multiple-probe across participants and alternating-treatments design. Preference probes were also conducted to determine if children would choose one AAC mode more frequently than the others. During intervention, all four children learned to request using PE and the SGD, but only two also reached criteria with MS. For the AAC preference assessments, three participants chose the SGD most frequently, while the other participant chose PE most frequently. The results suggest that children's preference for different AAC modes can be assessed during the early stages of intervention and that their preferences may influence acquisition and maintenance of AAC-based requesting responses. 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Dev. Phys. Disabil. PD OCT PY 2012 VL 24 IS 5 BP 451 EP 468 DI 10.1007/s10882-012-9283-3 PG 18 WC Rehabilitation SC Rehabilitation GA 999WJ UT WOS:000308345700003 ER PT J AU Mechling, L Ayres, KM Purrazzella, K Purrazzella, K AF Mechling, Linda Ayres, Kevin M. Purrazzella, Kimberly Purrazzella, Kaitlin TI Evaluation of the Performance of Fine and Gross Motor Skills within Multi-Step Tasks by Adults with Moderate Intellectual Disability when Using Video Models SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Video modeling; Fine motor; Gross motor; Adults; Moderate intellectual disability ID AUTISM SPECTRUM DISORDERS; DAILY LIVING SKILLS; OF-THE-LITERATURE; DEVELOPMENTAL-DISABILITIES; INDIVIDUALS; INTERVENTIONS; INSTRUCTION; CHILDREN; SELF AB The purpose of this study was to evaluate the effects of video modeling on the performance of fine and gross motor skills comprising multi-step tasks. Six home living tasks, which included both fine and gross motor skills, were included in the study and were completed by four adults with moderate intellectual disability. A multiple probe design across behaviors was used to assess performance across three sets of skills with four participants. Results showed there were minimal differences between performances on the two types of skills; however, individual differences did occur and overall the participants performed a greater percentage of fine motor skills independently correct. Implications are presented for considering not only the motor requirements of tasks presented through video models, but also the cognitive and visual processing demands of tasks. EM mechlingl@uncw.edu CR Ayres Kevin M., 2007, Journal of Special Education Technology, V22 Ayres K. 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Turygin, Nicole TI An Evaluation of Social Skills in Adults with Pica, Autism Spectrum Disorders, and Intellectual Disability SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Pica; Autism; Intellectual disability; Adults ID SEVERE RETARDATION MESSIER; MENTAL-RETARDATION; DEVELOPMENTAL DISORDERS; MALADAPTIVE BEHAVIORS; MATSON EVALUATION; PDD-NOS; INDIVIDUALS; CHILDREN; PSYCHOPATHOLOGY; EPIDEMIOLOGY AB Adults with intellectual disability (ID) and autism spectrum disorders (ASDs) are often at risk for developing additional forms of psychopathology and/or challenging behaviors, including pica. The aim of this study was to examine the relationship of pica and social skills deficits. The Matson Evaluation of Social Skills for Individuals with sEvere Retardation (MESSIER), a measure of social skill impairment, was administered to a group of adults with ID alone (n = 22), a group with ID and ASD (n = 22), and a group with ID, ASD, and pica (n = 15). 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Dev. Phys. Disabil. PD OCT PY 2012 VL 24 IS 5 BP 505 EP 514 DI 10.1007/s10882-012-9286-0 PG 10 WC Rehabilitation SC Rehabilitation GA 999WJ UT WOS:000308345700006 ER PT J AU Hasanzadeh, E Mohammadi, MR Ghanizadeh, A Rezazadeh, SA Tabrizi, M Rezaei, F Akhondzadeh, S AF Hasanzadeh, Elmira Mohammadi, Mohammad-Reza Ghanizadeh, Ahmad Rezazadeh, Shams-Ali Tabrizi, Mina Rezaei, Farzin Akhondzadeh, Shahin TI A Double-Blind Placebo Controlled Trial of Ginkgo biloba Added to Risperidone in Patients with Autistic Disorders SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT LA English DT Article DE Autism; Ginkgo biloba; Clinical trial; Risperidone ID ALTERNATIVE MEDICINE; PHARMACOLOGICAL-TREATMENT; SPECTRUM DISORDERS; ABERRANT BEHAVIOR; CHILDREN; COMPLEMENTARY AB Ginkgo biloba has been reported to affect the neurotransmitter system and to have antioxidant properties that could impact the pathogenesis of Autism Spectrum Disorder. Based on these studies, we decided to assess the effectiveness of Ginkgo biloba extract (Ginko T.D., Tolidaru, Iran) as an adjunctive agent to risperidone in the treatment of autism. Forty-seven outpatients with a DSM-IV-TR diagnosis of autism ages between 4 and 12 years were assigned to this double blinded clinical trial and were randomly divided into two groups. One group received risperidone plus Ginko T.D and the other received risperidone plus placebo. The dose of risperidone was 1-3 mg/day and the dose of Ginko T.D. was 80 mg/day for patients under 30 kg and 120 mg/day for patients above 30 kg. Patients were assessed using Aberrant Behavior Checklist-Community (ABC-C) rating scale and the side effect check list every 2 weeks until the endpoint. None of the 5 subscales of ABC-C rating scale showed significant differences between the two groups. Incidents of side effects were not significantly different between the two groups. Adding Ginkgo biloba to risperidone did not affect the treatment outcome of ADs. Nevertheless, further observations are needed to confirm this result. C1 [Hasanzadeh, Elmira; Mohammadi, Mohammad-Reza; Akhondzadeh, Shahin] Univ Tehran Med Sci, Roozbeh Psychiat Hosp, Psychiat Res Ctr, Tehran 13337, Iran. [Ghanizadeh, Ahmad] Shiraz Univ Med Sci, Hafez Hosp, Res Ctr Psychiat & Behav Sci, Shiraz, Iran. [Rezazadeh, Shams-Ali] Inst Med Plants ACECR, Tehran, Iran. [Tabrizi, Mina] Univ Tehran Med Sci, Dept Med Genet, Tehran, Iran. [Rezaei, Farzin] Kurdistan Univ Med Sci, Qods Hosp, Sanandaj, Iran. RP Akhondzadeh, S (reprint author), Univ Tehran Med Sci, Roozbeh Psychiat Hosp, Psychiat Res Ctr, S Kargar St, Tehran 13337, Iran. 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Hum. Dev. PD OCT PY 2012 VL 43 IS 5 BP 674 EP 682 DI 10.1007/s10578-012-0292-3 PG 9 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 993TW UT WOS:000307883500002 PM 22392415 ER PT J AU Storch, EA Arnold, EB Jones, AM Ale, CM Wood, JJ Ehrenreich-May, J Lewin, AB Mutch, PJ Murphy, TK AF Storch, Eric A. Arnold, Elysse B. Jones, Anna M. Ale, Chelsea M. Wood, Jeffrey J. Ehrenreich-May, Jill Lewin, Adam B. Mutch, P. Jane Murphy, Tanya K. TI The Role of Co-Occurring Disruptive Behavior in the Clinical Presentation of Children and Adolescents with Anxiety in the Context of Autism Spectrum Disorders SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT LA English DT Article DE Autism; Anxiety; Asperger's Syndrome; Comorbidity; Children; Oppositional defiant disorder; Treatment; Assessment ID OBSESSIVE-COMPULSIVE DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; COMORBID ANXIETY; ASPERGER-SYNDROME; CONTROLLED-TRIAL; IMPACT; ATOMOXETINE; SYMPTOMS; RELIABILITY AB This study explored the impact of disruptive behavior disorder (DBD) comorbidity on theoretically relevant correlates among 87 children and adolescents with autism spectrum disorders (ASD) and clinically significant anxiety. Relative to youth with ASD and anxiety alone, participants with ASD, anxiety, and DBD: (a) presented with significantly more severe anxiety symptoms per clinician-, parent-, and self-report; (b) were more likely to be prescribed antipsychotic medication but were no more likely to receive additional psychosocial and educational interventions; and (c) experienced significantly greater functional impairment and family interference. These results suggest that co-occurring DBD in the context of ASD and anxiety confers greater risk for heightened symptom severity and functional impairment, and may be linked with increased prescription of antipsychotic medication. C1 [Storch, Eric A.; Arnold, Elysse B.; Jones, Anna M.; Ale, Chelsea M.; Lewin, Adam B.; Mutch, P. Jane; Murphy, Tanya K.] Univ S Florida, Dept Pediat, Rothman Ctr Neuropsychiat, St Petersburg, FL 33701 USA. [Storch, Eric A.; Lewin, Adam B.; Murphy, Tanya K.] Univ S Florida, Dept Psychiat & Neurosci, Tampa, FL USA. [Wood, Jeffrey J.] Univ Calif Los Angeles, Dept Educ Psychol, Los Angeles, CA USA. [Ehrenreich-May, Jill] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA. RP Storch, EA (reprint author), Univ S Florida, Dept Pediat, Rothman Ctr Neuropsychiat, 800 6th St S,4th Floor N,Box 7523, St Petersburg, FL 33701 USA. 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Sims, Valerie TI Facial Emotion Recognition in Children with High Functioning Autism and Children with Social Phobia SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT LA English DT Article DE Social skill deficits; Facial emotion recognition; Facial affect recognition; High functioning autism; Social phobia ID ASPERGER-SYNDROME; SPECTRUM DISORDERS; ANXIETY INVENTORY; DISCRIMINATIVE VALIDITY; EXPRESSION RECOGNITION; EFFECTIVENESS THERAPY; BEHAVIORAL TREATMENT; FACE RECOGNITION; SCHEMATIC FACES; SPAI-C AB Recognizing facial affect is essential for effective social functioning. This study examines emotion recognition abilities in children aged 7-13 years with High Functioning Autism (HFA = 19), Social Phobia (SP = 17), or typical development (TD = 21). Findings indicate that all children identified certain emotions more quickly (e.g., happy < anger, disgust, sad < fear) and more accurately (happy) than other emotions (disgust). No evidence was found for negative interpretation biases in children with HFA or SP (i.e., all groups showed similar ability to discriminate neutral from non-neutral facial expressions). However, distinct between-group differences emerged when considering facial expression intensity. Specifically, children with HFA detected mild affective expressions less accurately than TD peers. Behavioral ratings of social effectiveness or social anxiety were uncorrelated with facial affect recognition abilities across children. Findings have implications for social skills treatment programs targeting youth with skill deficits. C1 [Wong, Nina; Beidel, Deborah C.; Sarver, Dustin E.; Sims, Valerie] Univ Cent Florida, Dept Psychol, Orlando, FL 32816 USA. RP Wong, N (reprint author), Univ Cent Florida, Dept Psychol, 4000 Cent Florida Blvd, Orlando, FL 32816 USA. 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Hum. Dev. PD OCT PY 2012 VL 43 IS 5 BP 775 EP 794 DI 10.1007/s10578-012-0296-z PG 20 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 993TW UT WOS:000307883500008 PM 22528028 ER PT J AU Kirsten, TB Chaves-Kirsten, GP Chaible, LM Silva, AC Martins, DO Britto, LRG Dagli, MLZ Torrao, AS Palermo-Neto, J Bernardi, MM AF Kirsten, Thiago B. Chaves-Kirsten, Gabriela P. Chaible, Lucas M. Silva, Ana C. Martins, Daniel O. Britto, Luiz R. G. Dagli, Maria L. Z. Torrao, Andrea S. Palermo-Neto, Joao Bernardi, Maria M. TI Hypoactivity of the central dopaminergic system and autistic-like behavior induced by a single early prenatal exposure to lipopolysaccharide SO JOURNAL OF NEUROSCIENCE RESEARCH LA English DT Article DE animal model; autism-like effects; dopamine; gestation; infection ID PERVASIVE DEVELOPMENTAL DISORDERS; IMMUNE CHALLENGE; BRAIN-INJURY; ULTRASONIC VOCALIZATION; SPECTRUM DISORDERS; FETAL-BRAIN; BACTERIAL-ENDOTOXIN; PARKINSONS-DISEASE; AMNIOTIC-FLUID; PRETERM BIRTH AB The aim of the present study was to evaluate the behavioral patterns associated with autism and the prevalence of these behaviors in males and females, to verify whether our model of lipopolysaccharide (LPS) administration represents an experimental model of autism. For this, we prenatally exposed Wistar rats to LPS (100 mu g/kg, intraperitoneally, on gestational day 9.5), which mimics infection by gram-negative bacteria. Furthermore, because the exact mechanisms by which autism develops are still unknown, we investigated the neurological mechanisms that might underlie the behavioral alterations that were observed. Because we previously had demonstrated that prenatal LPS decreases striatal dopamine (DA) and metabolite levels, the striatal dopaminergic system (tyrosine hydroxylase [TH] and DA receptors D1a and D2) and glial cells (astrocytes and microglia) were analyzed by using immunohistochemistry, immunoblotting, and real-time PCR. Our results show that prenatal LPS exposure impaired communication (ultrasonic vocalizations) in male pups and learning and memory (T-maze spontaneous alternation) in male adults, as well as inducing repetitive/restricted behavior, but did not change social interactions in either infancy (play behavior) or adulthood in females. Moreover, although the expression of DA receptors was unchanged, the experimental animals exhibited reduced striatal TH levels, indicating that reduced DA synthesis impaired the striatal dopaminergic system. The expression of glial cell markers was not increased, which suggests that prenatal LPS did not induce permanent neuroinflammation in the striatum. Together with our previous finding of social impairments in males, the present findings demonstrate that prenatal LPS induced autism-like effects and also a hypoactivation of the dopaminergic system. (c) 2012 Wiley Periodicals, Inc. C1 [Kirsten, Thiago B.; Chaible, Lucas M.; Silva, Ana C.; Dagli, Maria L. Z.; Palermo-Neto, Joao; Bernardi, Maria M.] Univ Sao Paulo, Dept Pathol, Sch Vet Med, BR-05508270 Sao Paulo, Brazil. [Chaves-Kirsten, Gabriela P.; Martins, Daniel O.; Britto, Luiz R. G.; Torrao, Andrea S.] Univ Sao Paulo, Dept Physiol & Biophys, Inst Biomed Sci, BR-05508270 Sao Paulo, Brazil. [Bernardi, Maria M.] Univ Estadual Paulista, Hlth Sci Inst, Sao Paulo, Brazil. RP Kirsten, TB (reprint author), Univ Sao Paulo, Dept Pathol, Sch Vet Med, Av Prof Dr Orlando Marques de Paiva 87, BR-05508270 Sao Paulo, Brazil. EM thik@hotmail.com RI Torrao, Andrea/C-2353-2012; Chaible, Lucas/F-2403-2013; Celulas tronco, Inct/I-1921-2013; Martins, Daniel/P-1145-2014 FU Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [08/53861-5, 09/51886-3]; Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [301739/2007-2]; Paulista University [7-02-747/2010] FX Contract grant sponsor: Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP); Contract grant number: 08/53861-5; Contract grant number: 09/51886-3; Contract grant sponsor: Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq); Contract grant number: 301739/2007-2; Contract grant sponsor: Paulista University; Contract grant number: 7-02-747/2010. 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Neurosci. Res. PD OCT PY 2012 VL 90 IS 10 BP 1903 EP 1912 DI 10.1002/jnr.23089 PG 10 WC Neurosciences SC Neurosciences & Neurology GA 986YO UT WOS:000307383800004 PM 22714803 ER PT J AU Weiss, HR Liu, X Grewal, P Chi, OZ AF Weiss, Harvey R. Liu, Xia Grewal, Parneet Chi, Oak Z. TI Reduced effect of stimulation of AMPA receptors on cerebral O-2 consumption in a rat model of autism SO NEUROPHARMACOLOGY LA English DT Article DE Alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA); Excitatory amino acids; Cerebral blood flow; Cerebral O-2 consumption; Autism spectrum disorders; Rats ID TUBEROUS SCLEROSIS COMPLEX; OXYGEN-CONSUMPTION; SPECTRUM DISORDERS; INDUCED INCREASES; EKER RATS; IN-VIVO; GLUCOSE; INHIBITION; METABOLISM; ISCHEMIA AB Previous work demonstrated that basal alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor activity did not contribute to the elevated regional cerebral O-2 consumption in the brains of Eker rat (an autism-tuberous sclerosis model). We tested the hypothesis that increased stimulation of AMPA receptors also would not augment cerebral O-2 consumption in the Eker rat. Three cortical sites were prepared for administration of saline, 10(-4) and 10(-3) M AMPA in young (4 weeks) male control Long Evans and Eker rats (70-100 g). Cerebral blood flow (C-14-iodoantipyrine) and O-2 consumption (cryomicrospectrophotometry) were determined in isoflurane anesthetized rats. Receptor levels were studied through Western analysis of the GLuR1 subunit of the AMPA receptor. We found significantly increased cortical O-2 consumption (+33%) after 10(-4) M AMPA in control rats. The higher dose of AMPA did not further increase consumption. In the Eker rats, neither dose led to a significant increase in cortical O-2 consumption. Regional blood flow followed a similar pattern to oxygen consumption but cortical O-2 extraction did not differ. Cortical AMPA receptor protein levels were significantly reduced (-21%) in the Eker compared to control rats. Both O-2 consumption and blood flow were significantly elevated in the pons of the Eker rats compared to control. These data demonstrate a reduced importance of AMPA receptors in the control of cortical metabolism, related to reduced AMPA receptor protein, in the Eker rat. This suggests that increasing AMPA receptor activity may not be an effective treatment for children with autism spectrum disorders as they also have reduced AMPA receptor number. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Weiss, Harvey R.; Grewal, Parneet] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Physiol & Biophys, Piscataway, NJ 08854 USA. [Liu, Xia; Chi, Oak Z.] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Anesthesia, Piscataway, NJ 08854 USA. RP Weiss, HR (reprint author), Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Physiol & Biophys, 675 Hoes Lane W, Piscataway, NJ 08854 USA. EM hweiss@umdnj.edu FU New Jersey Governor's Council for Medical Research and Treatment of Autism FX This work was supported, in part, by a grant from the New Jersey Governor's Council for Medical Research and Treatment of Autism. 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For some individuals oral communication is never established, because they can either not talk or refuse to talk. Education is the only proved way to help individuals with autism to cope with the social world around them; therefore besides their families, there need to be schools, administrators and teachers to help these individuals. The biggest problem about the education of individuals with autism is the lack of awareness in schools and in society at all. This paper includes a research study which investigates elementary school administrators' and teachers' perceptions on children with autism and their ways of handling the problems schooling. Results, based on data collected from one hundred seventeen administrators and teachers, indicate the present situation in the Anatolian side of Istanbul, Turkey. Although administrators and teachers both feel themselves insufficient in teaching and dealing with children with autism, they do not ask for help and in-service training about the issue. They argue that the necessity of extra payment need to be done for them if they include a child with autism in their classes. C1 Yildiz Tekn Univ, Fac Educ, Istanbul, Turkey. RP Akgul, EM (reprint author), Yildiz Tekn Univ, Fac Educ, Istanbul, Turkey. 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Sci. Technol.-Pt. B PD OCT PY 2012 VL 4 IS 4 BP 1925 EP 1934 PG 10 WC Education & Educational Research; Education, Scientific Disciplines SC Education & Educational Research GA 948LN UT WOS:000304504800005 ER PT J AU Coutellier, L Beraki, S Ardestani, PM Saw, NL Shamloo, M AF Coutellier, Laurence Beraki, Simret Ardestani, Pooneh Memar Saw, Nay Lui Shamloo, Mehrdad TI Npas4: A Neuronal Transcription Factor with a Key Role in Social and Cognitive Functions Relevant to Developmental Disorders SO PLOS ONE LA English DT Article ID MICE LACKING; DOPAMINE TRANSPORTER; PREPULSE INHIBITION; SYNAPSE DEVELOPMENT; RECOGNITION MEMORY; PERIRHINAL CORTEX; SCHIZOPHRENIA; HIPPOCAMPUS; EXPRESSION; BEHAVIOR AB Npas4 is a transcription factor, which is highly expressed in the brain and regulates the formation and maintenance of inhibitory synapses in response to excitatory synaptic activity. A deregulation of the inhibitory-excitatory balance has been associated with a variety of human developmental disorders such as schizophrenia and autism. However, not much is known about the role played by inhibitory synapses and inhibitory pathways in the development of nervous system disorders. We hypothesized that alterations in the inhibitory pathways induced by the absence of Npas4 play a major role in the expression of the symptoms observed in psychiatric disorders. To test this hypothesis we tested mice lacking the transcription factor (Npas4 knock-out mice (Npas4-KO)) in a battery of behavioral assays focusing on general activity, social behaviors, and cognitive functions. Npas4-KO mice are hyperactive in a novel environment, spend less time exploring an unfamiliar ovariectomized female, spend more time avoiding an unfamiliar male during a first encounter, show higher social dominance than their WT littermates, and display pre-pulse inhibition, working memory, long-term memory, and cognitive flexibility deficits. These behavioral deficits may replicate schizophrenia-related symptomatology such as social anxiety, hyperactivity, and cognitive and sensorimotor gating deficits. Immunohistochemistry analyses revealed that Npas4 expression is induced in the hippocampus after a social encounter and that Npas4 regulates the expression of c-Fos in the CA1 and CA3 regions of the hippocampus after a cognitive task. Our results suggest that Npas4 may play a major role in the regulation of cognitive and social functions in the brain with possible implications for developmental disorders such as schizophrenia and autism. C1 [Coutellier, Laurence; Beraki, Simret; Ardestani, Pooneh Memar; Saw, Nay Lui; Shamloo, Mehrdad] Stanford Univ, Sch Med, Behav & Funct Neurosci Lab, Palo Alto, CA 94304 USA. RP Shamloo, M (reprint author), Stanford Univ, Sch Med, Behav & Funct Neurosci Lab, Palo Alto, CA 94304 USA. EM mshamloo@stanford.edu FU National Institute of Neurological Disorders and Stroke P30 center core grant [NS069375-01A1] FX This study was supported by National Institute of Neurological Disorders and Stroke P30 center core grant (NS069375-01A1). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Shetty, Amol C. Cutler, David J. Zwick, Michael E. TI Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder SO MOLECULAR AUTISM LA English DT Article DE Autism spectrum disorder; Massively parallel DNA sequencing; Rare variation; Evolutionary conservation ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; TRANSCRIPTION FACTOR BACH1; GENOME-WIDE LINKAGE; MENTAL-RETARDATION; GENETIC-VARIATION; FINGER PROTEIN; HAPLOTYPE MAP; TWIN PAIRS; ASSOCIATION AB Background: Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors for it remain largely unknown. Although structural variants with large effect sizes may explain up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the examination of rare sequence variants of modest effect, which is most often achieved via exome selection and sequencing. This strategy has indeed identified some rare candidate variants; however, the approach does not capture the full spectrum of genetic variation that might contribute to the phenotype. Methods: We surveyed two loci with known rare variants that contribute to ASD, the X-linked neuroligin genes by performing massively parallel Illumina sequencing of the coding and noncoding regions from these genes in males from families with multiplex autism. We annotated all variant sites and functionally tested a subset to identify other rare mutations contributing to ASD susceptibility. Results: We found seven rare variants at evolutionary conserved sites in our study population. Functional analyses of the three 3 ' UTR variants did not show statistically significant effects on the expression of NLGN3 and NLGN4X. In addition, we identified two NLGN3 intronic variants located within conserved transcription factor binding sites that could potentially affect gene regulation. Conclusions: These data demonstrate the power of massively parallel, targeted sequencing studies of affected individuals for identifying rare, potentially disease-contributing variation. However, they also point out the challenges and limitations of current methods of direct functional testing of rare variants and the difficulties of identifying alleles with modest effects. C1 [Steinberg, Karyn Meltz; Ramachandran, Dhanya; Patel, Viren C.; Shetty, Amol C.; Cutler, David J.; Zwick, Michael E.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA. [Steinberg, Karyn Meltz] Emory Univ, Grad Program Populat Biol Ecol & Evolut, Atlanta, GA 30322 USA. [Steinberg, Karyn Meltz] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. RP Zwick, ME (reprint author), Emory Univ, Sch Med, Dept Human Genet, Whitehead Biomed Res Bldg,Suite 301, Atlanta, GA 30322 USA. EM mzwick@emory.edu FU NIH/NIMH and Gift Fund [MH076439]; Simons Foundation Autism Research Initiative; Training Program in Human Disease Genetics [1T32MH087977]; PHS [UL1 RR025008]; Clinical and Translational Science Award program; National Institutes of Health; National Center for Research Resource FX This work was supported by the NIH/NIMH and Gift Fund (grant number: MH076439, MEZ); the Simons Foundation Autism Research Initiative (MEZ); and the Training Program in Human Disease Genetics (grant number: 1T32MH087977, DR). We gratefully acknowledge the resources provided by the AGRE Consortium and the participating AGRE families. We thank members of the Cutler and Zwick labs for comments on the manuscript, Jennifer Mulle for discussion, Cheryl T Strauss for editing, and the Emory-Georgia Research Alliance Genome Center (EGC), supported in part by PHS Grant UL1 RR025008 from the Clinical and Translational Science Award program, National Institutes of Health, National Center for Research Resources, for performing the Illumina sequencing runs. The ELLIPSE Emory High Performance Computing Cluster (EHPCC) was used for data analysis and the Emory Custom Cloning Core Facility (CCCF) generated constructs to our specifications for the expression analyses. 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Autism PD SEP 28 PY 2012 VL 3 AR 8 DI 10.1186/2040-2392-3-8 PG 12 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA 254ST UT WOS:000327188000001 PM 23020841 ER PT J AU Tanabe, HC Kosaka, H Saito, DN Koike, T Hayashi, MJ Izuma, K Komeda, H Ishitobi, M Omori, M Munesue, T Okazawa, H Wada, Y Sadato, N AF Tanabe, Hiroki C. Kosaka, Hirotaka Saito, Daisuke N. Koike, Takahiko Hayashi, Masamichi J. Izuma, Keise Komeda, Hidetsugu Ishitobi, Makoto Omori, Masao Munesue, Toshio Okazawa, Hidehiko Wada, Yuji Sadato, Norihiro TI Hard to"tune in": neural mechanisms of live face-to-face interaction with high-functioning autistic spectrum disorder SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE functional connectivity; hyperscanning; inter-subject coherence; joint attention; mutual gaze; autistic spectrum disorder; functional magnetic resonance imaging ID HUMAN VISUAL-CORTEX; JOINT ATTENTION; EYE-GAZE; SOCIAL ATTENTION; COMMUNICATION DISORDERS; DIAGNOSTIC INTERVIEW; BRAIN NETWORKS; CHILDREN; FMRI; CONNECTIVITY AB Persons with autism spectrum disorders (ASD) are known to have difficulty in eye contact (EC). This may make it difficult for their partners during face to face communication with them. To elucidate the neural substrates of live inter-subject interaction of ASD patients and normal subjects, we conducted hyper-scanning functional MRI with 21 subjects with autistic spectrum disorder (ASD) paired with typically-developed (normal) subjects, and with 19 pairs of normal subjects as a control. Baseline EC was maintained while subjects performed real-time joint-attention task. The task-related effects were modeled out, and inter-individual correlation analysis was performed on the residual time-course data. ASD-Normal pairs were less accurate at detecting gaze direction than Normal-Normal pairs. Performance was impaired both in ASD subjects and in their normal partners. The left occipital pole (OP) activation by gaze processing was reduced in ASD subjects, suggesting that deterioration of eye-cue detection in ASD is related to impairment of early visual processing of gaze. On the other hand, their normal partners showed greater activity in the bilateral occipital cortex and the right prefrontal area, indicating a compensatory workload. Inter-brain coherence in the right IFG that was observed in the Normal-Normal pairs (Saito et al., 2010) during EC diminished in ASD-Normal pairs. Intra-brain functional connectivity between the right IFG and right superior temporal sulcus (STS) in normal subjects paired with ASD subjects was reduced compared within Normal-Normal pairs. This functional connectivity was positively correlated with performance of the normal partners on the eye-cue detection. Considering the integrative role of the right STS in gaze processing, inter-subject synchronization during EC may be a prerequisite for eye cue detection by the normal partner. C1 [Tanabe, Hiroki C.; Koike, Takahiko; Hayashi, Masamichi J.; Izuma, Keise; Komeda, Hidetsugu; Sadato, Norihiro] Natl Inst Nat Sci, Natl Inst Physiol Sci, Div Cerebral Integrat, Dept Cerebral Res, Okazaki, Aichi 4448585, Japan. [Tanabe, Hiroki C.; Hayashi, Masamichi J.; Izuma, Keise; Sadato, Norihiro] Grad Univ Adv Studies, Dept Physiol Sci, Okazaki, Aichi, Japan. [Tanabe, Hiroki C.] Nagoya Univ, Grad Sch Environm Studies, Nagoya, Aichi 4648601, Japan. [Kosaka, Hirotaka; Okazawa, Hidehiko; Wada, Yuji] Univ Fukui, Res Ctr Child Mental Dev, Eiheiji, Fukui, Japan. [Kosaka, Hirotaka; Ishitobi, Makoto; Wada, Yuji] Univ Fukui, Fac Med Sci, Dept Neuropsychiat, Eiheiji, Fukui, Japan. [Kosaka, Hirotaka; Saito, Daisuke N.; Okazawa, Hidehiko; Sadato, Norihiro] Univ Fukui, Biomed Imaging Res Ctr, Eiheiji, Fukui, Japan. [Omori, Masao] Fukui Prefectural Univ, Fac Nursing & Social Welfare Sci, Eiheiji, Fukui, Japan. [Munesue, Toshio] Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa, Japan. RP Sadato, N (reprint author), Natl Inst Nat Sci, Natl Inst Physiol Sci, Div Cerebral Integrat, Dept Cerebral Res, 38 Nishigonaka, Okazaki, Aichi 4448585, Japan. EM sadato@nips.ac.jp FU Scientific Research on Innovative Areas from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (MEXT) [22101007]; Japan Society for the Promotion of Science [23650224, 21791120, 21220005, 21591509] FX Hiroki C. Tanabe and Hirotaka Kosaka contributed equally to the present work. This study was partly supported by Scientific Research on Innovative Areas grant #22101007 (Hiroki C. Tanabe) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (MEXT), and Challenging Exploratory Research grant #23650224 (Hiroki C. Tanabe), Grants-in-Aid for Young Scientists B #21791120 (Hirotaka Kosaka), Grant-in-Aid for Scientific Research S #21220005 (Norihiro Sadato), Grant-in-Aid for Scientific Research C #21591509 (Toshio Munesue) from the Japan Society for the Promotion of Science. A part of this study represents the results of the "Development of biomarker candidates for social behavior" and "Integrated research on neuropsychiatric disorders" projects carried out under the Strategic Research Program for Brain Sciences by MEXT. 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PD SEP 27 PY 2012 VL 6 AR 268 DI 10.3389/fnhum.2012.00268 PG 15 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA 017HL UT WOS:000309580700001 PM 23060772 ER PT J AU Fields, C AF Fields, Chris TI The very same thing: Extending the object token concept to incorporate causal constraints on individual identity SO ADVANCES IN COGNITIVE PSYCHOLOGY LA English DT Review DE episodic memory; action planning; binding; medial temporal lobe; posterior parietal cortex; autism spectrum disorders; Alzheimer's disease AB The contributions of feature recognition, object categorization, and recollection of episodic memories to the re-identification of a perceived object as the very same thing encountered in a previous perceptual episode are well understood in terms of both cognitive-behavioral phenomenology and neurofunctional implementation. 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PD SEP 27 PY 2012 VL 8 IS 3 BP 234 EP 247 DI 10.5709/acp-0119-8 PG 14 WC Psychology, Experimental SC Psychology GA V37QT UT WOS:000209291000004 PM 22956989 ER PT J AU Young, SZ Taylor, MM Wu, SR Ikeda-Matsuo, Y Kubera, C Bordey, A AF Young, Stephanie Z. Taylor, M. Morgan Wu, Sharon Ikeda-Matsuo, Yuri Kubera, Cathryn Bordey, Angelique TI NKCC1 Knockdown Decreases Neuron Production through GABA(A)-Regulated Neural Progenitor Proliferation and Delays Dendrite Development SO JOURNAL OF NEUROSCIENCE LA English DT Article ID POSTNATAL SUBVENTRICULAR ZONE; OLFACTORY-BULB; ADULT NEUROGENESIS; RECEPTOR ACTIVATION; GABA; CELLS; SCHIZOPHRENIA; CALCIUM; AUTISM; BRAIN AB Signaling through GABA(A) receptors controls neural progenitor cell (NPC) development in vitro and is altered in schizophrenic and autistic individuals. However, the in vivo function of GABA(A) signaling on neural stem cell proliferation, and ultimately neurogenesis, remains unknown. To examine GABA(A) function in vivo, we electroporated plasmids encoding short-hairpin (sh) RNA against the Na-K-2Cl cotransporter NKCC1 (shNKCC1) in NPCs of the neonatal subventricular zone in mice to reduce GABA(A)-induced depolarization. Reduced GABAA depolarization identified by a loss of GABA(A)-induced calcium responses in most electroporated NPCs led to a 70% decrease in the number of proliferative Ki67(+) NPCs and a 60% reduction in newborn neuron density. Premature loss of GABA(A) depolarization in newborn neurons resulted in truncated dendritic arborization at the time of synaptic integration. However, by 6 weeks the dendritic tree had partially recovered and displayed a small, albeit significant, decrease in dendritic complexity but not total dendritic length. To further examine GABA(A) function on NPCs, we treated animals with a GABA(A) allosteric agonist, pentobarbital. Enhancement of GABA(A) activity in NPCs increased the number of proliferative NPCs by 60%. Combining shNKCC1 and pentobarbital prevented the shNKCC1 and the pentobarbital effects on NPC proliferation, suggesting that these manipulations affected NPCs through GABA(A) receptors. Thus, dysregulation in GABA(A) depolarizing activity delayed dendritic development and reduced NPC proliferation resulting in decreased neuronal density. C1 [Bordey, Angelique] Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06520 USA. Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06520 USA. RP Bordey, A (reprint author), Yale Univ, Sch Med, Dept Neurosurg, 333 Cedar St,FMB 422, New Haven, CT 06520 USA. EM angelique.bordey@yale.edu FU CT Stem Cell initiative; NIH [R01 DC007681]; NRSA [F31 NS063758]; State of Connecticut under the Connecticut Stem Cell Research Grants Program FX This work was supported by grants from CT Stem Cell initiative, NIH R01 DC007681 (A.B.) and NRSA F31 NS063758 (S.Z.Y). We thank Ivy Nguyen for helping with tracing and the lab members for helpful discussion and comments. The present material is based on work partly supported by the State of Connecticut under the Connecticut Stem Cell Research Grants Program. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the State of Connecticut, the Department of Public Health of the State of Connecticut, or CT Innovations, Inc. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Neurosci. PD SEP 26 PY 2012 VL 32 IS 39 BP 13630 EP 13638 DI 10.1523/JNEUROSCI.2864-12.2012 PG 9 WC Neurosciences SC Neurosciences & Neurology GA 016GR UT WOS:000309506300032 PM 23015452 ER PT J AU Delmonte, S Balsters, JH McGrath, J Fitzgerald, J Brennan, S Fagan, AJ Gallagher, L AF Delmonte, Sonja Balsters, Joshua H. McGrath, Jane Fitzgerald, Jacqueline Brennan, Sean Fagan, Andrew J. Gallagher, Louise TI Social and monetary reward processing in autism spectrum disorders SO MOLECULAR AUTISM LA English DT Article DE Autism; Reward; Social motivation; Striatum; Functional magnetic resonance imaging; fMRI ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; ALTRUISTIC PUNISHMENT; DIAGNOSTIC INTERVIEW; DORSAL STRIATUM; YOUNG-CHILDREN; FUNCTIONAL MRI; BASAL GANGLIA; NEURAL BASIS; ANTICIPATION; FMRI AB Background: Social motivation theory suggests that deficits in social reward processing underlie social impairments in autism spectrum disorders (ASD). However, the extent to which abnormalities in reward processing generalize to other classes of stimuli remains unresolved. The aim of the current study was to examine if reward processing abnormalities in ASD are specific to social stimuli or can be generalized to other classes of reward. Additionally, we sought to examine the results in the light of behavioral impairments in ASD. Methods: Participants performed adapted versions of the social and monetary incentive delay tasks. Data from 21 unmedicated right-handed male participants with ASD and 21 age- and IQ-matched controls were analyzed using a factorial design to examine the blood-oxygen-level-dependent (BOLD) response during the anticipation and receipt of both reward types. Results: Behaviorally, the ASD group showed less of a reduction in reaction time (RT) for rewarded compared to unrewarded trials than the control group. In terms of the fMRI results, there were no significant group differences in reward circuitry during reward anticipation. During the receipt of rewards, there was a significant interaction between group and reward type in the left dorsal striatum (DS). The ASD group showed reduced activity in the DS compared to controls for social rewards but not monetary rewards and decreased activation for social rewards compared to monetary rewards. Controls showed no significant difference between the two reward types. Increased activation in the DS during social reward processing was associated with faster response times for rewarded trials, compared to unrewarded trials, in both groups. This is in line with behavioral results indicating that the ASD group showed less of a reduction in RT for rewarded compared to unrewarded trials. Additionally, de-activation to social rewards was associated with increased repetitive behavior in ASD. Conclusions: In line with social motivation theory, the ASD group showed reduced activation, compared to controls, during the receipt of social rewards in the DS. Groups did not differ significantly during the processing of monetary rewards. BOLD activation in the DS, during social reward processing, was associated with behavioral impairments in ASD. C1 [Delmonte, Sonja; McGrath, Jane; Fitzgerald, Jacqueline; Brennan, Sean; Gallagher, Louise] Trinity Coll Dublin, Dept Psychiat, Dublin 2, Ireland. [Delmonte, Sonja; Balsters, Joshua H.; McGrath, Jane; Fitzgerald, Jacqueline] Trinity Coll Dublin, Trinity Coll Inst Neurosci, Dublin 2, Ireland. [Fagan, Andrew J.] Trinity Coll Dublin, St James Hosp, CAMI, Dublin 8, Ireland. RP Delmonte, S (reprint author), Trinity Coll Dublin, Dept Psychiat, Dublin 2, Ireland. 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PD SEP 25 PY 2012 VL 4 AR 71 DI 10.1186/gm372 PG 11 WC Genetics & Heredity SC Genetics & Heredity GA 084YG UT WOS:000314576100001 PM 23009675 ER PT J AU Noris, B Nadel, J Barker, M Hadjikhani, N Billard, A AF Noris, Basilio Nadel, Jacqueline Barker, Mandy Hadjikhani, Nouchine Billard, Aude TI Investigating Gaze of Children with ASD in Naturalistic Settings SO PLOS ONE LA English DT Article ID AUTISM SPECTRUM; IMPAIRED RECOGNITION; SOCIAL CONTINGENCY; BIOLOGICAL MOTION; INFANTILE-AUTISM; JOINT ATTENTION; YOUNG-CHILDREN; EYE CONTACT; FACE; PERCEPTION AB Background: Visual behavior is known to be atypical in Autism Spectrum Disorders (ASD). Monitor-based eye-tracking studies have measured several of these atypicalities in individuals with Autism. While atypical behaviors are known to be accentuated during natural interactions, few studies have been made on gaze behavior in natural interactions. In this study we focused on i) whether the findings done in laboratory settings are also visible in a naturalistic interaction; ii) whether new atypical elements appear when studying visual behavior across the whole field of view. Methodology/Principal Findings: Ten children with ASD and ten typically developing children participated in a dyadic interaction with an experimenter administering items from the Early Social Communication Scale (ESCS). The children wore a novel head-mounted eye-tracker, measuring gaze direction and presence of faces across the child's field of view. The analysis of gaze episodes to faces revealed that children with ASD looked significantly less and for shorter lapses of time at the experimenter. The analysis of gaze patterns across the child's field of view revealed that children with ASD looked downwards and made more extensive use of their lateral field of view when exploring the environment. Conclusions/Significance: The data gathered in naturalistic settings confirm findings previously obtained only in monitor-based studies. Moreover, the study allowed to observe a generalized strategy of lateral gaze in children with ASD when they were looking at the objects in their environment. C1 [Noris, Basilio; Billard, Aude] Ecole Polytech Fed Lausanne, Learning Algorithms & Syst Lab, Lausanne, Switzerland. [Nadel, Jacqueline] Hop La Pitie Salpetriere, Emot Ctr, Paris, France. [Barker, Mandy] Univ Lausanne, Univ Hosp Canton Vaud, Dept Child & Adolescent Psychiat, Lausanne, Switzerland. [Hadjikhani, Nouchine] Ecole Polytech Fed Lausanne, Brain & Mind Inst, Lausanne, Switzerland. [Hadjikhani, Nouchine] Massachusetts Gen Hosp, Martinos Ctr Biomed Imaging, HST, Boston, MA 02114 USA. RP Noris, B (reprint author), Ecole Polytech Fed Lausanne, Learning Algorithms & Syst Lab, Lausanne, Switzerland. EM basilio.noris@epfl.ch RI Hadjikhani, Nouchine/C-2018-2008 OI Hadjikhani, Nouchine/0000-0003-4075-3106 FU National Centre for Competence in Research of the Swiss National Science Foundation FX This work was funded by the IM2 program of the National Centre for Competence in Research of the Swiss National Science Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Ted Li, Xiaohong TI Alteration of astrocytes and Wnt/beta-catenin signaling in the frontal cortex of autistic subjects SO JOURNAL OF NEUROINFLAMMATION LA English DT Article DE Autism; Astrocytes; Morphology; Wnt/beta-catenin pathway; Neural plasticity ID FIBRILLARY ACIDIC PROTEIN; CENTRAL-NERVOUS-SYSTEM; NEURONAL DIFFERENTIATION; INFLAMMATORY RESPONSE; CEREBROSPINAL-FLUID; INBRED STRAINS; MICE; BRAIN; CHILDREN; CNS AB Background: Autism is a neurodevelopmental disorder characterized by impairments in social interaction, verbal communication and repetitive behaviors. To date the etiology of this disorder is poorly understood. Studies suggest that astrocytes play critical roles in neural plasticity by detecting neuronal activity and modulating neuronal networks. Recently, a number of studies suggested that an abnormal function of glia/astrocytes may be involved in the development of autism. However, there is yet no direct evidence showing how astrocytes develop in the brain of autistic individuals. Methods: Study subjects include brain tissue from autistic subjects, BTBR T + tfJ (BTBR) and Neuroligin (NL)-3 knock-down mice. Western blot analysis, Immunohistochemistry and confocal microscopy studies have be used to examine the density and morphology of astrocytes, as well as Wnt and beta-catenin protein expression. Results: In this study, we demonstrate that the astrocytes in autisitcsubjects exhibit significantly reduced branching processes, total branching length and cell body sizes. We also detected an astrocytosis in the frontal cortex of autistic subjects. In addition, we found that the astrocytes in the brain of an NL3 knockdown mouse exhibited similar alterations to what we found in the autistic brain. Furthermore, we detected that both Wnt and beta-catenin proteins are decreased in the frontal cortex of autistic subjects. Wnt/beta-catenin pathway has been suggested to be involved in the regulation of astrocyte development. Conclusions: Our findings imply that defects in astrocytes could impair neuronal plasticity and partially contribute to the development of autistic-like behaviors in both humans and mice. The alteration of Wnt/beta-catenin pathway in the brain of autistic subjects may contribute to the changes of astrocytes. C1 [Cao, Fujiang; Yin, Ailan; Sheikh, Ashfaq M.; Tauqeer, Zujaja; Malik, Mazhar; Nagori, Amenah; Schirripa, Michael; Schirripa, Frank; Li, Xiaohong] New York State Inst Basic Res Dev Disabil, Dept Neurochem, Staten Isl, NY 10314 USA. [Wen, Guang] New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, New York, NY USA. [Merz, George; Brown, W. Ted] New York State Inst Basic Res Dev Disabil, New York, NY 10314 USA. [Cao, Fujiang] Tianjin Med Univ, Gen Hosp, Dept Orthopaed, Tianjin, Peoples R China. RP Li, XH (reprint author), New York State Inst Basic Res Dev Disabil, Dept Neurochem, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA. EM xiaohongli99@gmail.com FU NYS Office for People with Developmental Disabilities; Rural India Charitable Trust; Richmond County Savings Foundation; Northfield Bank Foundation FX This work was supported by the NYS Office for People with Developmental Disabilities, the Rural India Charitable Trust, Richmond County Savings Foundation and Northfield Bank Foundation. 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TI Autistic-like behaviour in Scn1a(+/-) mice and rescue by enhanced GABA-mediated neurotransmission SO NATURE LA English DT Article ID SEVERE MYOCLONIC EPILEPSY; DE-NOVO MUTATIONS; REDUCED SODIUM CURRENT; FRAGILE-X-SYNDROME; DRAVET-SYNDROME; MOUSE MODEL; SPECTRUM DISORDERS; NA(V)1.1 CHANNELS; RETT-SYNDROME; INFANCY AB Haploinsufficiency of the SCN1A gene encoding voltage-gated sodium channel Na(V)1.1 causes Dravet's syndrome, a childhood neuropsychiatric disorder including recurrent intractable seizures, cognitive deficit and autism-spectrum behaviours. The neural mechanisms responsible for cognitive deficit and autism-spectrum behaviours in Dravet's syndrome are poorly understood. Here we report that mice with Scn1a haploinsufficiency exhibit hyperactivity, stereotyped behaviours, social interaction deficits and impaired context-dependent spatial memory. Olfactory sensitivity is retained, but novel food odours and social odours are aversive to Scn1a(+/-) mice. GABAergic neurotransmission is specifically impaired by this mutation, and selective deletion of Na(V)1.1 channels in forebrain interneurons is sufficient to cause these behavioural and cognitive impairments. Remarkably, treatment with low-dose clonazepam, a positive allosteric modulator of GABA(A) receptors, completely rescued the abnormal social behaviours and deficits in fear memory in the mouse model of Dravet's syndrome, demonstrating that they are caused by impaired GABAergic neurotransmission and not by neuronal damage from recurrent seizures. These results demonstrate a critical role for Na(V)1.1 channels in neuropsychiatric functions and provide a potential therapeutic strategy for cognitive deficit and autism-spectrum behaviours in Dravet's syndrome. C1 [Han, Sung; de la Iglesia, Horacio O.; Catterall, William A.] Univ Washington, Graduate Program Neurobiol & Behav, Seattle, WA 98195 USA. [Han, Sung; Tai, Chao; Westenbroek, Ruth E.; Yu, Frank H.; Cheah, Christine S.; Scheuer, Todd; Catterall, William A.] Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA. [Han, Sung; de la Iglesia, Horacio O.] Univ Washington, Dept Biol, Seattle, WA 98195 USA. [Potter, Gregory B.; Rubenstein, John L.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94158 USA. RP Catterall, WA (reprint author), Univ Washington, Graduate Program Neurobiol & Behav, Seattle, WA 98195 USA. EM horaciod@uw.edu; wcatt@uw.edu FU National Institutes of Health [R01 NS25704, R01 MH075016, R37 MH049428]; McKnight Foundation FX This work was supported by Research Grants R01 NS25704 (W. A. C.), R01 MH075016 (H.O.d.) and R37 MH049428 (J.L.R.) from the National Institutes of Health and by a grant from the McKnight Foundation (W. A. C.). The authors thank E. Strakbein in the Machine Division at the University of Washington for making all the mazes for the behavioural experiments in this study. 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Singer, Wolf TI Neuronal Dynamics and Neuropsychiatric Disorders: Toward a Translational Paradigm for Dysfunctional Large-Scale Networks SO NEURON LA English DT Review ID NMDA RECEPTOR HYPOFUNCTION; AUTISM SPECTRUM DISORDERS; HIPPOCAMPUS IN-VITRO; GAMMA-BAND SYNCHRONIZATION; MONKEY PREFRONTAL CORTEX; PRIMARY VISUAL-CORTEX; LONG-RANGE SYNCHRONY; OSCILLATORY ACTIVITY; NEURAL SYNCHRONY; WORKING-MEMORY AB In recent years, numerous studies have tested the relevance of neural oscillations in neuropsychiatric conditions, highlighting the potential role of changes in temporal coordination as a pathophysiological mechanism in brain disorders. In the current review, we provide an update on this hypothesis because of the growing evidence that temporal coordination is essential for the context and goal-dependent, dynamic formation of large-scale cortical networks. We shall focus on issues that we consider particularly promising for a translational research program aimed at furthering our understanding of the origins of neuropsychiatric disorders and the development of effective therapies. We will focus on schizophrenia and autism spectrum disorders (ASDs) to highlight important issues and challenges for the implementation of such an approach. Specifically, we will argue that deficits in temporal coordination lead to a disruption of functional large-scale networks, which in turn can account for several specific dysfunctions associated with these disorders. C1 [Uhlhaas, Peter J.; Singer, Wolf] Max Planck Inst Brain Res, Dept Neurophysiol, D-60528 Frankfurt, Germany. [Uhlhaas, Peter J.; Singer, Wolf] Max Planck Gesell, Ernst Strungmann Inst Neurosci, D-60528 Frankfurt, Germany. [Uhlhaas, Peter J.] Univ Glasgow, Inst Neurosci & Psychol, Glasgow G12 80B, Lanark, Scotland. [Singer, Wolf] Goethe Univ Frankfurt, Frankfurt Inst Adv Studies, D-60528 Frankfurt, Germany. RP Uhlhaas, PJ (reprint author), Max Planck Inst Brain Res, Dept Neurophysiol, Deutschordenstr 46, D-60528 Frankfurt, Germany. EM peter.uhlhaas@glasgow.ac.uk RI Singer, Wolf/D-6874-2012 FU Max-Planck Society; LOEWE Grant "Neuronale Koordination Forschungsschwerpunkt Frankfurt" FX This work was supported by the Max-Planck Society and the LOEWE Grant "Neuronale Koordination Forschungsschwerpunkt Frankfurt." We thank Chalid Hasan for his help in preparing Table 1. 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Lorenzi, Lauren Minshew, Nancy J. Malach, Rafael Behrmann, Marlene TI Unreliable Evoked Responses in Autism SO NEURON LA English DT Article ID FUNCTIONAL CONNECTIVITY MRI; SPECTRUM DISORDERS; BRAIN; CHILDREN; DEFICITS; NETWORK; FMRI; HYPEREXCITABILITY; ABNORMALITIES; VARIABILITY AB Autism has been described as a disorder of general neural processing, but the particular processing characteristics that might be abnormal in autism have mostly remained obscure. Here, we present evidence of one such characteristic: poor evoked response reliability. We compared cortical response amplitude and reliability (consistency across trials) in visual, auditory, and somatosensory cortices of high-functioning individuals with autism and controls. Mean response amplitudes were statistically indistinguishable across groups, yet trial-by-trial response reliability was significantly weaker in autism, yielding smaller signal-to-noise ratios in all sensory systems. Response reliability differences were evident only in evoked cortical responses and not in ongoing resting-state activity. These findings reveal that abnormally unreliable cortical responses, even to elementary nonsocial sensory stimuli, may represent a fundamental physiological alteration of neural processing in autism. The results motivate a critical expansion of autism research to determine whether (and how) basic neural processing properties such as reliability, plasticity, and adaptation/habituation are altered in autism. C1 [Dinstein, Ilan; Lorenzi, Lauren; Behrmann, Marlene] Carnegie Mellon Univ, Dept Psychol, Pittsburgh, PA 15213 USA. [Heeger, David J.] NYU, Dept Psychol, New York, NY 10003 USA. [Heeger, David J.] NYU, Ctr Neural Sci, New York, NY 10003 USA. [Minshew, Nancy J.] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA. [Malach, Rafael] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel. RP Dinstein, I (reprint author), Carnegie Mellon Univ, Dept Psychol, Baker Hall, Pittsburgh, PA 15213 USA. EM ilan@cns.nyu.edu FU Simons Foundation SFARI grant [177638]; ISF grants; Bikura grant; Clore and Kahn postdoctoral fellowships; Pennsylvania Department of Health SAP [4100047862]; NICHD/NIDCD [PO1/U19]; NIH/NICHD University of Pittsburgh Autism Center of Excellence [HD055748] FX This work was supported by Simons Foundation SFARI grant 177638 (D.J.H., M.B., and I.D.), ISF and Bikura grants (R.M.), Clore and Kahn postdoctoral fellowships (ID.), Pennsylvania Department of Health SAP grant 4100047862 and NICHD/NIDCD PO1/U19 (M.B.). This research was also supported by the NIH/NICHD University of Pittsburgh Autism Center of Excellence HD055748. 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SO INTERNATIONAL JOURNAL OF ADVANCED ROBOTIC SYSTEMS LA English DT Article DE Human-robot interaction; Robot-assisted therapy; Therapeutic robot; Autism therapy ID SOCIAL-INTERACTION; TOYS AB This study explores the response of autistic children to a few design features of the robots for autism therapy and provides suggestions on the robot features that have a stronger influence on the therapeutic process. First, we investigate the effect of selected robot features on the development of social communication skills in autistic children. The results indicate that the toy's "face" and "moving limb" usually draw the children's attention and improve children's facial expression skills, but do not contribute to the development of other social communication skills. Secondly, we study the response of children with low-functioning autism to robots with verbal communication functionalities. 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TI Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial SO SCIENCE TRANSLATIONAL MEDICINE LA English DT Article ID ABERRANT BEHAVIOR CHECKLIST; MOUSE MODEL; PHARMACOLOGICAL RESCUE; AUTISM; DISORDERS; AMYGDALA; SCALE; IDENTIFICATION; VALIDATION; PHENOTYPES AB Research on animal models of fragile X syndrome suggests that STX209, a gamma-aminobutyric acid type B (GABA(B)) agonist, might improve neurobehavioral function in affected patients. We evaluated whether STX209 improves behavioral symptoms of fragile X syndrome in a randomized, double-blind, placebo-controlled crossover study in 63 subjects (55 male), ages 6 to 39 years, with a full mutation in the FMR1 gene (>200 CGG triplet repeats). We found no difference from placebo on the primary endpoint, the Aberrant Behavior Checklist-Irritability (ABC-I) subscale. In the other analyses specified in the protocol, improvement was seen on the visual analog scale ratings of parent-nominated problem behaviors, with positive trends on multiple global measures. Post hoc analysis with the ABC-Social Avoidance scale, a newly validated scale for the assessment of fragile X syndrome, showed a significant beneficial treatment effect in the full study population. A post hoc subgroup of 27 subjects with more severe social impairment showed improvements on the Vineland II-Socialization raw score, on the ABC-Social Avoidance scale, and on all global measures. STX209 was well tolerated, with 8% incidences of sedation and of headache as the most frequent side effects. In this exploratory study, STX209 did not show a benefit on irritability in fragile X syndrome. Nonetheless, our results suggest that GABA(B) agonists have potential to improve social function and behavior in patients with fragile X syndrome. C1 [Rathmell, Barbara; Zarevics, Peter; Cherubini, Maryann; Walton-Bowen, Karen; Wang, Paul P.; Carpenter, Randall L.] Seaside Therapeut Inc, Cambridge, MA 02139 USA. [Berry-Kravis, Elizabeth M.] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA. [Berry-Kravis, Elizabeth M.] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA. [Berry-Kravis, Elizabeth M.] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA. [Hessl, David; Hagerman, Randi J.] Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA. [Hessl, David; Hagerman, Randi J.] Univ Calif Davis, Med Ctr, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA. [Mu, Yi; Nguyen, Danh V.] Univ Calif Davis, Dept Publ Hlth Sci, Div Biostat, Sacramento, CA 95817 USA. [Gonzalez-Heydrich, Joseph] Childrens Hosp, Dept Psychiat, Boston, MA 02115 USA. [Bear, Mark F.] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. 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Transl. Med. PD SEP 19 PY 2012 VL 4 IS 152 AR 152ra127 DI 10.1126/scitranslmed.3004214 PG 7 WC Cell Biology; Medicine, Research & Experimental SC Cell Biology; Research & Experimental Medicine GA 010RX UT WOS:000309112900003 PM 22993294 ER PT J AU Henderson, C Wijetunge, L Kinoshita, MN Shumway, M Hammond, RS Postma, FR Brynczka, C Rush, R Thomas, A Paylor, R Warren, ST Vanderklish, PW Kind, PC Carpenter, RL Bear, MF Healy, AM AF Henderson, Christina Wijetunge, Lasani Kinoshita, Mika Nakamoto Shumway, Matthew Hammond, Rebecca S. Postma, Friso R. Brynczka, Christopher Rush, Roger Thomas, Alexia Paylor, Richard Warren, Stephen T. Vanderklish, Peter W. Kind, Peter C. Carpenter, Randall L. Bear, Mark F. Healy, Aileen M. TI Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABA(B) Receptors with Arbaclofen SO SCIENCE TRANSLATIONAL MEDICINE LA English DT Article ID MENTAL-RETARDATION PROTEIN; METABOTROPIC GLUTAMATE RECEPTORS; FMR1 KNOCKOUT MICE; PRIMARY SOMATOSENSORY CORTEX; LONG-TERM POTENTIATION; HIPPOCAMPAL-NEURONS; DENDRITIC SPINES; STARTLE RESPONSE; GENETIC REDUCTION; AUTISTIC BEHAVIOR AB Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, results from the transcriptional silencing of FMR1 and loss of the mRNA translational repressor protein fragile X mental retardation protein (FMRP). Patients with FXS exhibit changes in neuronal dendritic spine morphology, a pathology associated with altered synaptic function. Studies in the mouse model of fragile X have shown that loss of FMRP causes excessive synaptic protein synthesis, which results in synaptic dysfunction and altered spine morphology. We tested whether the pharmacologic activation of the gamma-aminobutyric acid type B (GABA(B)) receptor could correct or reverse these phenotypes in Fmr1-knockout mice. Basal protein synthesis, which is elevated in the hippocampus of Fmr1-knockout mice, was corrected by the in vitro application of the selective GABA(B) receptor agonist STX209 (arbaclofen, R-baclofen). STX209 also reduced to wild-type values the elevated AMPA receptor internalization in Fmr1-knockout cultured neurons, a known functional consequence of increased protein synthesis. Acute administration of STX209 in vivo, at doses that modify behavior, decreased mRNA translation in the cortex of Fmr1-knockout mice. Finally, the chronic administration of STX209 in juvenile mice corrected the increased spine density in Fmr1-knockout mice without affecting spine density in wild-type mice. Thus, activation of the GABA(B) receptor with STX209 corrected synaptic abnormalities considered central to fragile X pathophysiology, a finding that suggests that STX209 may be a potentially effective therapy to treat the core symptoms of FXS. C1 [Henderson, Christina; Shumway, Matthew; Hammond, Rebecca S.; Postma, Friso R.; Brynczka, Christopher; Rush, Roger; Carpenter, Randall L.; Healy, Aileen M.] Seaside Therapeut Inc, Cambridge, MA 02139 USA. [Wijetunge, Lasani; Kind, Peter C.] Univ Edinburgh, Patrick Wild Ctr, Edinburgh EH8 9XD, Midlothian, Scotland. [Kinoshita, Mika Nakamoto; Warren, Stephen T.] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA. [Thomas, Alexia; Paylor, Richard] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Vanderklish, Peter W.] Scripps Res Inst, Dept Neurobiol, La Jolla, CA 92037 USA. [Bear, Mark F.] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. RP Healy, AM (reprint author), Seaside Therapeut Inc, Cambridge, MA 02139 USA. EM ahealy@seasidetherapeutics.com FU Seaside Therapeutics; NIH [HD020521, HD24064]; Medical Research Council [G0601584] FX This work was supported in part by Seaside Therapeutics, NIH grants HD020521 and HD24064 to S. T. W., and Medical Research Council grant G0601584 to P.C.K. 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Transl. Med. PD SEP 19 PY 2012 VL 4 IS 152 AR 152ra128 DI 10.1126/scitranslmed.3004218 PG 11 WC Cell Biology; Medicine, Research & Experimental SC Cell Biology; Research & Experimental Medicine GA 010RX UT WOS:000309112900004 PM 22993295 ER PT J AU Hughes, V Sheng, M Zoghbi, H AF Hughes, Virginia Sheng, Morgan Zoghbi, Huda TI Childhood Disorders of the Synapse: Challenges and Opportunities SO SCIENCE TRANSLATIONAL MEDICINE LA English DT Article ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; RETT-SYNDROME; MOUSE MODEL; LEARNING-DEFICITS; FRAGILE-X; REVERSAL; GENE; MICE; MECP2 AB Earlier this year, a diverse group convened at the Jan and Dan Duncan Neurological Research Institute and Baylor College of Medicine to discuss research on neurodevelop-mental disorders involving the synapse. Participants discussed current challenges in the field and made recommendations for future research directions. C1 [Sheng, Morgan] Genentech Inc, Dept Neurosci, San Francisco, CA 94080 USA. [Zoghbi, Huda] Texas Childrens Hosp, Baylor Coll Med, Howard Hughes Med Inst, Dept Pediat, Houston, TX 77030 USA. [Zoghbi, Huda] Texas Childrens Hosp, Baylor Coll Med, Howard Hughes Med Inst, Dept Neurol, Houston, TX 77030 USA. [Zoghbi, Huda] Texas Childrens Hosp, Baylor Coll Med, Howard Hughes Med Inst, Dept Neurosci, Houston, TX 77030 USA. [Zoghbi, Huda] Texas Childrens Hosp, Baylor Coll Med, Howard Hughes Med Inst, Dept Mol & Human Genet, Houston, TX 77030 USA. [Zoghbi, Huda] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA. EM virginia.hughes@gmail.com; hzoghbi@bcm.edu FU Texas Children's Hospital; Baylor College of Medicine; Perkins+Will; Angelman Syndrome Foundation; Autism Speaks; Genentech; GlaxoSmithKline; International Rett Syndrome Foundation; Novartis; Phelan-McDermid Syndrome Foundation; Rett Syndrome Research Trust; Simons Foundation Autism Research Initiative; VWR; Zeiss FX This conference could not have happened without the help of our sponsors. We sincerely thank the following research institutes, foundations, and corporations that supported the 2012 Disorders of Synaptic Dysfunction Symposium: Texas Children's Hospital, Baylor College of Medicine, Perkins+Will, Angelman Syndrome Foundation, Autism Speaks, Genentech, GlaxoSmithKline, International Rett Syndrome Foundation, Novartis, Phelan-McDermid Syndrome Foundation, Rett Syndrome Research Trust, Simons Foundation Autism Research Initiative, VWR, and Zeiss. We are also grateful to several Houston families of children with synaptic disorders who offered a patient's perspective to the meeting's scientific attendees. 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Transl. Med. PD SEP 19 PY 2012 VL 4 IS 152 AR 152ps17 DI 10.1126/scitranslmed.3004356 PG 6 WC Cell Biology; Medicine, Research & Experimental SC Cell Biology; Research & Experimental Medicine GA 010RX UT WOS:000309112900002 PM 22993293 ER PT J AU Carmona-Mora, P Canales, CP Cao, L Perez, IC Srivastava, AK Young, JI Walz, K AF Carmona-Mora, Paulina Canales, Cesar P. Cao, Lei Perez, Irene C. Srivastava, Anand K. Young, Juan I. Walz, Katherina TI RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome SO PLOS ONE LA English DT Article ID ACID-INDUCED 1; 17P11.2 DELETIONS; GENE; MUTATIONS; PHENOTYPE; PHD; AUTISM; DUP(17)(P11.2P11.2); IDENTIFICATION; SCHIZOPHRENIA AB Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency of the Retinoic Acid Induced 1 gene (RAI1), located in the chromosomal region 17p11.2. In a subset of SMS patients, heterozygous mutations in RAI1 are found. Here we investigate the molecular properties of these mutated forms and their relationship with the resulting phenotype. We compared the clinical phenotype of SMS patients carrying a mutation in RAI1 coding region either in the N-terminal or the C-terminal half of the protein and no significant differences were found. In order to study the molecular mechanism related to these two groups of RAI1 mutations first we analyzed those mutations that result in the truncated protein corresponding to the N-terminal half of RAI1 finding that they have cytoplasmic localization (in contrast to full length RAI1) and no ability to activate the transcription through an endogenous target: the BDNF enhancer. Similar results were found in lymphoblastoid cells derived from a SMS patient carrying RAI1 c.3103insC, where both mutant and wild type products of RAI1 were detected. The wild type form of RAI1 was found in the chromatin bound and nuclear matrix subcellular fractions while the mutant product was mainly cytoplasmic. In addition, missense mutations at the C-terminal half of RAI1 presented a correct nuclear localization but no activation of the endogenous target. Our results showed for the first time a correlation between RAI1 mutations and abnormal protein function plus they suggest that a reduction of total RAI1 transcription factor activity is at the heart of the SMS clinical presentation. C1 [Carmona-Mora, Paulina; Canales, Cesar P.; Perez, Irene C.; Young, Juan I.; Walz, Katherina] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA. [Cao, Lei; Young, Juan I.; Walz, Katherina] Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA. [Srivastava, Anand K.] Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA. [Srivastava, Anand K.] Clemson Univ, Dept Biochem & Genet, Clemson, SC USA. [Walz, Katherina] Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USA. RP Walz, K (reprint author), Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA. EM kwalz@med.miami.edu FU Le Jerome Foundation FX This work was supported in part by Le Jerome Foundation (KW). The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. No additional external funding was received for this study. 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Jorgensen, Martin R. S. Bjerrum, Stephanie Jensen-Fangel, Soren Stovring, Henrik Ostergaard, Lars Sogaard, Ole S. TI Use of population based background rates of disease to assess vaccine safety in childhood and mass immunisation in Denmark: nationwide population based cohort study SO BRITISH MEDICAL JOURNAL LA English DT Article ID GUILLAIN-BARRE-SYNDROME; INFLUENZA-A H1N1; RUBELLA VACCINATION; TRANSVERSE MYELITIS; MULTIPLE-SCLEROSIS; FEBRILE SEIZURES; MMR VACCINATION; ADVERSE EVENTS; AUTISM; MEASLES AB Objectives To predict the number of selected outcomes temporally associated but not caused by vaccination, to aid causality assessment of adverse events arising after mass immunisation in a paediatric population. Design Nationwide population based cohort study. Setting Denmark. Participants All liveborn infants delivered after 1 January 1980. Study population was followed from date of birth until hospital admission for selected outcome diagnoses, death, first emigration, age 18 years, or 31 December 2009. The study population was subject to vaccines used in standard childhood immunisation in Denmark, with 82-93% vaccine coverage. Main outcome measures Incidence of acute infectious and post-infectious polyneuritis (Guillain-Barre syndrome), acute transverse myelitis, optic polyneuritis, facial nerve palsy, anaphylactic shock, seizure, multiple sclerosis, autoimmune thrombocytopenia, type 1 diabetes mellitus, juvenile and rheumatoid arthritis, narcolepsy, and death of unknown cause stratified by sex, age, and season. We predicted the number of events for a hypothetical vaccine cohort of 1 000 000 people for follow-up periods of up to 182 days. Results The study included 2 300 227 liveborn infants, yielding 37 262 404 person years of follow-up; median follow-up was 16.8 person years. Incidence of outcome diagnoses spanned from 0.32 per 100 000 patient years for autoimmune thrombocytopenia to 189.82 per 100 000 patient years for seizure. Seasonal differences were most pronounced for anaphylactic shock, seizure, and multiple sclerosis. Even for rare outcomes, numerous events were predicted in the hypothetical vaccine cohort. We predicted that 20 cases of type 1 diabetes mellitus, 19 of juvenile or rheumatoid arthritis, eight of facial nerve palsy, and five of multiple sclerosis per 1 000 000 children would occur within 42 days after vaccination. Conclusions Incorporating exact background rates of disease based on age, sex, and seasonal distribution could strengthen vaccine safety assessment, and provides an evidence based focus for discussing the incremental risk of newly introduced vaccines. C1 [Rasmussen, Thomas A.; Jensen-Fangel, Soren; Ostergaard, Lars; Sogaard, Ole S.] Aarhus Univ Hosp, Dept Infect Dis, DK-8200 Aarhus N, Denmark. [Jorgensen, Martin R. S.] Aarhus Univ Hosp, Aalborg Hosp, Dept Infect Dis, Aalborg, Denmark. [Bjerrum, Stephanie] Hvidovre Univ Hosp, Dept Infect Dis, DK-2650 Hvidovre, Denmark. [Stovring, Henrik] Aarhus Univ, Dept Publ Hlth, Aarhus, Denmark. RP Rasmussen, TA (reprint author), Aarhus Univ Hosp, Dept Infect Dis, DK-8200 Aarhus N, Denmark. EM thomrasm@rm.dk RI Stovring, Henrik/I-4683-2012 OI Stovring, Henrik/0000-0002-5821-2351 FU Department of Infectious Diseases, Aarhus University Hospital, Denmark; Aarhus University Hospital FX The study was funded by the Department of Infectious Diseases, Aarhus University Hospital, Denmark.All authors have completed the Unified Competing Interest form at www.icmje.org/coi_disclosure.pdf (available on request from the corresponding author) and declare: support from Aarhus University Hospital for the submitted work; no financial relationships with any organisations that might have an interest in the submitted work in the previous 3 years; no other relationships or activities that could appear to have influenced the submitted work. 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Med. J. PD SEP 17 PY 2012 VL 345 AR e5823 DI 10.1136/bmj.e5823 PG 12 WC Medicine, General & Internal SC General & Internal Medicine GA 011JG UT WOS:000309160300001 PM 22988304 ER PT J AU Etain, B Dumaine, A Bellivier, F Pagan, C Francelle, L Goubran-Botros, H Moreno, S Deshommes, J Moustafa, K Le Dudal, K Mathieu, F Henry, C Kahn, JP Launay, JM Muhleisen, TW Cichon, S Bourgeron, T Leboyer, M Jamain, S AF Etain, Bruno Dumaine, Anne Bellivier, Frank Pagan, Cecile Francelle, Laetitia Goubran-Botros, Hany Moreno, Sarah Deshommes, Jasmine Moustafa, Khaled Le Dudal, Katia Mathieu, Flavie Henry, Chantal Kahn, Jean-Pierre Launay, Jean-Marie Muehleisen, Thomas W. Cichon, Sven Bourgeron, Thomas Leboyer, Marion Jamain, Stephane TI Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder SO HUMAN MOLECULAR GENETICS LA English DT Article ID AUTISM SPECTRUM DISORDERS; I DISORDER; CIRCADIAN ACTIVITY; MOOD DISORDERS; SLEEP PATTERNS; DRUG-FREE; LIGHT; SUSCEPTIBILITY; SENSITIVITY; EXPRESSION AB Patients affected by bipolar disorder (BD) frequently report abnormalities in sleep/wake cycles. In addition, they showed abnormal oscillating melatonin secretion, a key regulator of circadian rhythms and sleep patterns. The acetylserotonin O-methyltransferase (ASMT) is a key enzyme of the melatonin biosynthesis and has recently been associated with psychiatric disorders such as autism spectrum disorders and depression. In this paper, we analysed rare and common variants of ASMT in patients with BD and unaffected control subjects and performed functional analysis of these variants by assaying the ASMT activity in their B-lymphoblastoid cell lines. We sequenced the coding and the regulatory regions of the gene in a discovery sample of 345 patients with BD and 220 controls. We performed an association study on this discovery sample using common variants located in the promoter region and showed that rs4446909 was significantly associated with BD (P 0.01) and associated with a lower mRNA level (P 10(4)) and a lower enzymatic activity (P 0.05) of ASMT. A replication study and a meta-analysis using 480 independent patients with BD and 672 controls confirmed the significant association between rs4446909 and BD (P 0.002). These results correlate with the general lower ASMT enzymatic activity observed in patients with BD (P 0.001) compared with controls. Finally, several deleterious ASMT mutations identified in patients were associated with low ASMT activity (P 0.01). In this study, we determined how rare and common variations in ASMT might play a role in BD vulnerability and suggest a general role of melatonin as susceptibility factor for BD. C1 [Jamain, Stephane] Hop H Mondor, INSERM, U955, EQ15, F-94000 Creteil, France. [Etain, Bruno; Bellivier, Frank; Deshommes, Jasmine; Henry, Chantal; Leboyer, Marion] Hop H Mondor A Chenevier, AP HP, F-94000 Creteil, France. [Bellivier, Frank; Henry, Chantal; Leboyer, Marion] Univ Paris Est, Fac Med, F-94000 Creteil, France. [Etain, Bruno; Dumaine, Anne; Bellivier, Frank; Pagan, Cecile; Francelle, Laetitia; Goubran-Botros, Hany; Moreno, Sarah; Deshommes, Jasmine; Moustafa, Khaled; Le Dudal, Katia; Mathieu, Flavie; Henry, Chantal; Kahn, Jean-Pierre; Launay, Jean-Marie; Bourgeron, Thomas; Leboyer, Marion; Jamain, Stephane] Fondat Fondamental, F-94000 Creteil, France. [Pagan, Cecile; Goubran-Botros, Hany; Moreno, Sarah; Bourgeron, Thomas] Inst Pasteur, F-75015 Paris, France. [Pagan, Cecile; Goubran-Botros, Hany; Moreno, Sarah; Bourgeron, Thomas] Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, Paris, France. [Pagan, Cecile; Launay, Jean-Marie] Hop Lariboisiere, AP HP, Serv Biochim, Fac Pharm, F-75475 Paris, France. [Le Dudal, Katia] Hop H Mondor A Chenevier, INSERM, Ctr Invest Clin 006, F-94000 Creteil, France. [Kahn, Jean-Pierre] Hop Jeanne dArc, CHU Nancy, Dept Psychiat & Psychol Clin, F-54200 Toul, France. [Muehleisen, Thomas W.; Cichon, Sven] Univ Bonn, Dept Genom, Life & Brain Ctr, D-53127 Bonn, Germany. [Muehleisen, Thomas W.; Cichon, Sven] Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany. [Cichon, Sven] Res Ctr Juelich, Inst Neurosci & Med INM 1, D-52425 Julich, Germany. RP Jamain, S (reprint author), Hop H Mondor, INSERM, U955, EQ15, 51 Av Marechal de Lattre de Tassigny, F-94000 Creteil, France. EM stephane.jamain@inserm.fr RI Cichon, Sven/H-8803-2013; Cichon, Sven/B-9618-2014 OI Cichon, Sven/0000-0002-9475-086X; Cichon, Sven/0000-0002-9475-086X FU Institut Pasteur; Institut National pour la Recherche Medicale (INSERM); Assistance Publique des Hopitaux de Paris (AP-HP); Agence Nationale pour la Recherche (ANR); Fondation pour la Recherche sur le Cerveau (FRC); Reseau Thematique de Recherche et de Soin en Sante Mentale (Fondation FondaMental) FX This work was supported by the Institut Pasteur; the Institut National pour la Recherche Medicale (INSERM); the Assistance Publique des Hopitaux de Paris (AP-HP); the Agence Nationale pour la Recherche (ANR - Project Manage_BPAD); the Fondation pour la Recherche sur le Cerveau (FRC); and the Reseau Thematique de Recherche et de Soin en Sante Mentale (Fondation FondaMental). 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Mol. Genet. PD SEP 15 PY 2012 VL 21 IS 18 BP 4030 EP 4037 DI 10.1093/hmg/dds227 PG 8 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 998IJ UT WOS:000308230800008 PM 22694957 ER PT J AU Xu, FL Farkas, S Kortbeek, S Zhang, FX Chen, LN Zamponi, GW Syed, NI AF Xu, Fenglian Farkas, Svetlana Kortbeek, Simone Zhang, Fang-Xiong Chen, Lina Zamponi, Gerald W. Syed, Naweed I. TI Mercury-induced toxicity of rat cortical neurons is mediated through N-methyl-D-Aspartate receptors SO MOLECULAR BRAIN LA English DT Article DE Mercury Chloride; Rat cortical neurons; Toxicity; MK 801; NMDA receptor; Excitotoxicity; Cytoskeleton ID CEREBELLAR GRANULE CELLS; METHYLMERCURY-INDUCED NEUROTOXICITY; NERVE GROWTH-FACTOR; IN-VITRO; NEUROBLASTOMA-CELLS; HIPPOCAMPAL-NEURONS; PERMEABILITY TRANSITION; GLUTAMATE TRANSPORT; ALZHEIMERS-DISEASE; NEURITE OUTGROWTH AB Background: Mercury is a well-known neurotoxin implicated in a wide range of neurological or psychiatric disorders including autism spectrum disorders, Alzheimer's disease, Parkinson's disease, epilepsy, depression, mood disorders and tremor. Mercury-induced neuronal degeneration is thought to invoke glutamate-mediated excitotoxicity, however, the underlying mechanisms remain poorly understood. Here, we examine the effects of various mercury concentrations (including pathological levels present in human plasma or cerebrospinal fluid) on cultured, rat cortical neurons. Results: We found that inorganic mercuric chloride (HgCl2 -at 0.025 to 25 mu M) not only caused neuronal degeneration but also perturbed neuronal excitability. Whole-cell patch-clamp recordings of pyramidal neurons revealed that HgCl2 not only enhanced the amplitude and frequency of synaptic, inward currents, but also increased spontaneous synaptic potentials followed by sustained membrane depolarization. HgCl2 also triggered sustained, 2-5 fold rises in intracellular calcium concentration ([Ca2+](i)). The observed increases in neuronal activity and [Ca2+](i) were substantially reduced by the application of MK 801, a non-competitive antagonist of N-Methyl-D-Aspartate (NMDA) receptors. Importantly, our study further shows that a pre incubation or co-application of MK 801 prevents HgCl2-induced reduction of cell viability and a disruption of beta-tubulin. Conclusions: Collectively, our data show that HgCl2-induced toxic effects on central neurons are triggered by an over-activation of NMDA receptors, leading to cytoskeleton instability. C1 [Xu, Fenglian; Farkas, Svetlana; Kortbeek, Simone; Syed, Naweed I.] Univ Calgary, Dept Cell Biol & Anat, Calgary, AB T2N 1N4, Canada. [Xu, Fenglian; Zhang, Fang-Xiong; Chen, Lina; Zamponi, Gerald W.] Univ Calgary, Hotchkiss Brain Inst, Fac Med, Calgary, AB T2N 1N4, Canada. RP Xu, FL (reprint author), Univ Calgary, Dept Cell Biol & Anat, Calgary, AB T2N 1N4, Canada. EM fxu@ucalgary.ca FU Natural Sciences and Engineering Research Council (NSERC); Canadian Institutes of Health Research (CIHR); Hotchkiss Brain Institute Fong fellowship; Alberta Innovate-Health Solutions fellowship FX This work was supported by Natural Sciences and Engineering Research Council (NSERC) grant to NIS. GWZ is supported by a grant from the Canadian Institutes of Health Research (CIHR). He is a Canada research Chair and AI-HS Scientist. FXZ is supported by the Hotchkiss Brain Institute Fong fellowship and Alberta Innovate-Health Solutions fellowship. 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Rubin, Robert A. Falcone, Tatiana Ting, Angela H. Natowicz, Marvin R. TI Brain Transcriptional and Epigenetic Associations with Autism SO PLOS ONE LA English DT Article ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; SPECTRUM DISORDERS; GENE-EXPRESSION; CHILDREN; NETWORK; GENOME; PATHOPHYSIOLOGY; DYSFUNCTION; VARIANTS AB Background: Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic. Methodology/Principal Findings: To uncover important gene dysregulation in autism we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high resolution whole genome gene expression and whole genome DNA methylation microarrays. No changes in DNA methylation were identified in autistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrial oxidative phosphorylation and of protein translation. 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Though the total number of calls was not significantly different between genotypes, a detailed analysis of 10 different categories of calls revealed that loss of Fmr1 expression in mice causes limited and call-type specific deficits in ultrasonic vocalization: the carrier frequency of flat calls was higher, the percentage of downward calls was lower and that the frequency range of complex calls was wider in Fmr1-KO mice compared to their WT littermates. C1 [Roy, Snigdha; Heck, Detlef] Univ Tennessee, Ctr Hlth Sci, Dept Anat & Neurobiol, Memphis, TN 38163 USA. [Watkins, Nick] Christian Bros Univ, Dept Biol, Memphis, TN USA. RP Roy, S (reprint author), Univ Tennessee, Ctr Hlth Sci, Dept Anat & Neurobiol, Memphis, TN 38163 USA. EM sroy3@uthsc.edu FU National Institutes of Health [R01NS063009, R01NS060887] FX This work was supported by grants from the National Institutes of Health to D. H. H. (R01NS063009 and R01NS060887). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Stahmer, Aubyn C. TI Developing the Autism Model of Implementation for Autism spectrum disorder community providers: study protocol SO IMPLEMENTATION SCIENCE LA English DT Article DE Autism spectrum disorder; Evidence-based practice; Implementation; Organization; Community provider; Model development ID COGNITIVE-BEHAVIORAL THERAPY; HEALTH-SERVICES RESEARCH; HIGH-FUNCTIONING AUTISM; CONTROLLED-TRIAL; PREVENTION RESEARCH; ANXIETY DISORDERS; ASPERGER-SYNDROME; STAFF TURNOVER; YOUNG-CHILDREN; PDD-NOS AB Background: Currently, 1 out of 88 children are diagnosed with an autism spectrum disorder (ASD), and the estimated cost for treatment services is $126 billion annually. Typically, ASD community providers (ASD-CPs) provide services to children with any severity of ASD symptoms using a combination of various treatment paradigms, some with an evidence-base and some without. When evidence-based practices (EBPs) are successfully implemented by ASD-CPs, they can result in positive outcomes. Despite this promise, EBPs are often implemented unsuccessfully and other treatments used by ASD-CPs lack supportive evidence, especially for school-age children with ASD. While it is not well understood why ASD-CPs are not implementing EBPs, organizational and individual characteristics likely play a role. As a response to this need and to improve the lives of children with ASD and their families, this study aims to develop and test the feasibility and acceptability of the Autism Model of Implementation (AMI) to support the implementation of EBPs by ASD-CPs. Methods/design: An academic-community collaboration developed to partner with ASD-CPs will facilitate the development of the AMI, a process specifically for use by ASD community-based agencies. Using a mixed methods approach, the project will assess agency and individual factors likely to facilitate or hinder implementing EBPs in this context; develop the AMI to address identified barriers and facilitators; and pilot test the AMI to examine its feasibility and acceptability using a specific EBP to treat anxiety disorders in school-age children with ASD. Discussion: The AMI will represent a data-informed approach to facilitate implementation of EBPs by ASD-CPs by providing an implementation model specifically developed for this context. This study is designed to address the real-world implications of EBP implementation in ASD community-based agencies. In doing so, the AMI will help to provide children with ASD the best and most effective services in their own community. Moreover, the proposed study will positively impact the field of implementation science by providing an empirically supported and tested model of implementation to facilitate the identification, adoption, and use of EBPs. C1 [Drahota, Amy] San Diego State Univ, Dept Psychol, San Diego, CA 92182 USA. [Drahota, Amy; Aarons, Gregory A.; Stahmer, Aubyn C.] Rady Childrens Hosp, Child & Adolescent Serv Res Ctr, San Diego, CA USA. [Aarons, Gregory A.; Stahmer, Aubyn C.] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA. RP Drahota, A (reprint author), San Diego State Univ, Dept Psychol, San Diego, CA 92182 USA. EM adrahota@casrc.org FU National Institute of Mental Health grant [K01MH093477] FX This study is supported by the National Institute of Mental Health grant K01MH093477 (Principal investigator: Amy Drahota). 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PD SEP 10 PY 2012 VL 7 AR 85 DI 10.1186/1748-5908-7-85 PG 10 WC Health Care Sciences & Services; Health Policy & Services SC Health Care Sciences & Services GA 039VD UT WOS:000311274000001 PM 22963616 ER PT J AU Cossu, G Boria, S Copioli, C Bracceschi, R Giuberti, V Santelli, E Gallese, V AF Cossu, Giuseppe Boria, Sonia Copioli, Cristiana Bracceschi, Roberta Giuberti, Virginia Santelli, Erica Gallese, Vittorio TI Motor Representation of Actions in Children with Autism SO PLOS ONE LA English DT Article ID MIRROR-NEURON SYSTEM; EMOTIONAL FACIAL EXPRESSIONS; SPECTRUM-DISORDERS; INTENTIONAL ATTUNEMENT; SOCIAL COGNITION; PREMOTOR CORTEX; IMITATION; RECOGNITION; ORGANIZATION; PERFORMANCE AB Background: Children with Autistic Spectrum Disorders (ASD) are frequently hampered by motor impairment, with difficulties ranging from imitation of actions to recognition of motor intentions. Such a widespread inefficiency of the motor system is likely to interfere on the ontogeny of both motor planning and understanding of the goals of actions, thus delivering its ultimate effects on the emergence of social cognition. Methodology/Principal Findings: We investigate the organization of action representation in 15 high functioning ASD (mean age: 8.11) and in two control samples of typically developing (TD) children: the first one, from a primary school, was matched for chronological age (CA), the second one, from a kindergarten, comprised children of much younger age (CY). We used nine newly designed behavioural motor tasks, aiming at exploring three domains of motor cognition: 1) imitation of actions, 2) production of pantomimes, and 3) comprehension of pantomimes. The findings reveal that ASD children fare significantly worse than the two control samples in each of the inspected components of the motor representation of actions, be it the imitation of gestures, the self-planning of pantomimes, or the (verbal) comprehension of observed pantomimes. In the latter task, owing to its cognitive complexity, ASD children come close to the younger TD children's level of performance; yet they fare significantly worse with respect to their age-mate controls. Overall, ASD children reveal a profound damage to the mechanisms that control both production and pre-cognitive "comprehension" of the motor representation of actions. Conclusions/Significance: Our findings suggest that many of the social cognitive impairments manifested by ASD individuals are likely rooted in their incapacity to assemble and directly grasp the intrinsic goal-related organization of motor behaviour. Such impairment of motor cognition might be partly due to an early damage of the Mirror Neuron Mechanism (MNM). C1 [Cossu, Giuseppe; Boria, Sonia; Copioli, Cristiana; Bracceschi, Roberta; Gallese, Vittorio] Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy. [Giuberti, Virginia; Santelli, Erica] AUSL Reggio Emilia, Unita Neuropsichiat Infantile, Reggio Emilia, Italy. [Gallese, Vittorio] Italian Inst Technol, Brain Ctr Social & Motor Cognit, Parma, Italy. RP Cossu, G (reprint author), Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy. EM giuseppe.cossu@unipr.it RI Macciardi, Fabio/N-3768-2014 FU Fondazione Monte Parma (FMP); Regione Emilia Romagna; MIUR (Ministero Italiano dell'Universita e della Ricerca); EU grants FX The study was supported by Fondazione Monte Parma (FMP), by Regione Emilia Romagna, by MIUR (Ministero Italiano dell'Universita e della Ricerca) and EU grants NESTCOM and DISCOS (to V.G.). The authors thank A.M. Dalla Vecchia for her clinical contribution. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Hernandez, Leanna M. Brown, Jesse A. Beck-Pancer, Devora Colich, Natalie L. Gorrindo, Philip Thompson, Paul M. Geschwind, Daniel H. Bookheimer, Susan Y. Levitt, Pat Dapretto, Mirella TI Autism-Associated Promoter Variant in MET Impacts Functional and Structural Brain Networks SO NEURON LA English DT Article ID RECEPTOR TYROSINE KINASE; DE-NOVO MUTATIONS; SPECTRUM DISORDERS; WHITE-MATTER; SPATIAL-STATISTICS; ASPERGER-SYNDROME; NEURAL CIRCUITRY; GENETIC VARIANT; MOUSE FOREBRAIN; FRONTAL-CORTEX AB As genes that confer increased risk for autism spectrum disorder (ASD) are identified, a crucial next step is to determine how these risk factors impact brain structure and function and contribute to disorder heterogeneity. With three converging lines of evidence, we show that a common, functional ASD risk variant in the Met Receptor Tyrosine Kinase (MET) gene is a potent modulator of key social brain circuitry in children and adolescents with and without ASD. MET risk genotype predicted atypical fMRI activation and deactivation patterns to social stimuli (i.e., emotional faces), as well as reduced functional and structural connectivity in temporo-parietal regions known to have high MET expression, particularly within the default mode network. Notably, these effects were more pronounced in individuals with ASD. These findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD. C1 [Rudie, Jeffrey D.; Hernandez, Leanna M.; Beck-Pancer, Devora; Colich, Natalie L.; Dapretto, Mirella] Univ Calif Los Angeles, Ahmanson Lovelace Brain Mapping Ctr, Los Angeles, CA 90095 USA. [Rudie, Jeffrey D.; Brown, Jesse A.] Univ Calif Los Angeles, Interdept Neurosci Program, Los Angeles, CA 90095 USA. [Hernandez, Leanna M.; Beck-Pancer, Devora; Thompson, Paul M.; Geschwind, Daniel H.; Bookheimer, Susan Y.; Dapretto, Mirella] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA. [Levitt, Pat] Univ So Calif, Keck Sch Med, Dept Cell & Neurobiol, Zilkha Neurogenet Inst, Los Angeles, CA 90089 USA. [Thompson, Paul M.; Geschwind, Daniel H.] Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90095 USA. [Geschwind, Daniel H.] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA. RP Dapretto, M (reprint author), Univ Calif Los Angeles, Ahmanson Lovelace Brain Mapping Ctr, Los Angeles, CA 90095 USA. EM mirella@loni.ucla.edu FU NICHD [P50 HD055784]; NIMH [R01 HD06528001, NIMH 1R01 MH080759, T32 GM008044, T32 MH073526-05]; NIH [RR12169, RR13642, RR00865]; Autism Speaks FX This work was supported by NICHD Grant P50 HD055784 (to S.Y.B.), NIMH Grants R01 HD06528001 (to S.Y.B.), NIMH 1R01 MH080759 (to P.L.), T32 GM008044 (to J.D.R.), T32 MH073526-05 (to J.D.R.), NIH Grants (RR12169, RR13642, and RR00865), and Autism Speaks. We thank Z. Shehzad, B. Abrahams, and K. Eagleson for commenting on the manuscript as well as J. Pfiefer, K. McNeally, L. Borofsky, A. Martin, and B. Way for help with data collection. 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Wenderoth, Nicole Alaerts, Kaat TI Recognizing Biological Motion and Emotions from Point-Light Displays in Autism Spectrum Disorders SO PLOS ONE LA English DT Article ID HIGH-FUNCTIONING AUTISM; EYE-MOVEMENTS; VISUAL-PERCEPTION; MIRROR NEURONS; SHORT FORMS; CHILDREN; RECOGNITION; PATTERNS; SCALE; INDIVIDUALS AB One of the main characteristics of Autism Spectrum Disorder (ASD) are problems with social interaction and communication. Here, we explored ASD-related alterations in 'reading' body language of other humans. Accuracy and reaction times were assessed from two observational tasks involving the recognition of 'biological motion' and 'emotions' from point-light displays (PLDs). Eye movements were recorded during the completion of the tests. Results indicated that typically developed-participants were more accurate than ASD-subjects in recognizing biological motion or emotions from PLDs. No accuracy differences were revealed on two control-tasks (involving the indication of color-changes in the moving point-lights). Group differences in reaction times existed on all tasks, but effect sizes were higher for the biological and emotion recognition tasks. Biological motion recognition abilities were related to a person's ability to recognize emotions from PLDs. However, ASD-related atypicalities in emotion recognition could not entirely be attributed to more basic deficits in biological motion recognition, suggesting an additional ASD-specific deficit in recognizing the emotional dimension of the point light displays. Eye movements were assessed during the completion of tasks and results indicated that ASD-participants generally produced more saccades and shorter fixation-durations compared to the control-group. However, especially for emotion recognition, these altered eye movements were associated with reductions in task-performance. C1 [Nackaerts, Evelien; Helsen, Werner; Swinnen, Stephan P.; Wenderoth, Nicole; Alaerts, Kaat] Katholieke Univ Leuven, Res Ctr Movement Control & Neuroplast, Grp Biomed Sci, Dept Biomed Kinesiol, Heverlee, Belgium. [Wagemans, Johan] Katholieke Univ Leuven, Expt Psychol Lab, Louvain, Belgium. [Wenderoth, Nicole] ETH, Dept Hlth Sci & Technol, Neural Control Movement Lab, Zurich, Switzerland. RP Nackaerts, E (reprint author), Katholieke Univ Leuven, Res Ctr Movement Control & Neuroplast, Grp Biomed Sci, Dept Biomed Kinesiol, Heverlee, Belgium. EM Kaat.Alaerts@faber.kuleuven.be RI Wenderoth, Nicole/D-7262-2015 OI Wenderoth, Nicole/0000-0002-3246-9386 FU Flanders Fund for Scientific Research (FWO) [G.0758.10]; FWO; Interuniversity Attraction Poles program of the Belgian federal government [P6/29]; Research Council of the University of Leuven [IDO/08/013]; Flemish government [METH/08/02] FX Support for this study was provided through grants from the Flanders Fund for Scientific Research (FWO projectsG.0758.10). KA is supported by a FWO postdoctoral Research fellowship grant. This work was also supported by Grant P6/29 from the Interuniversity Attraction Poles program of the Belgian federal government. This study has been conducted in collaboration with the Leuven Autism Research Consortium (LAuRes), funded by the Research Council of the University of Leuven (IDO/08/013). JW is supported by the Methusalem program of the Flemish government (METH/08/02). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Beaulieu, Jean-Martin TI Selective deletion of forebrain glycogen synthase kinase 3 beta reveals a central role in serotonin-sensitive anxiety and social behaviour SO PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES LA English DT Article DE serotonin; mood disorders; glycogen synthase kinase 3 beta; cortex; anxiety; sociability ID SIGNALING CASCADE; DOPAMINE TRANSPORTER; MOOD DISORDERS; MICE LACKING; MOUSE MODEL; EUROPE 2010; IN-VIVO; LITHIUM; BRAIN; SCHIZOPHRENIA AB Serotonin (5-HT) neurotransmission is thought to underlie mental illnesses, such as bipolar disorder, depression, autism and schizophrenia. Independent studies have indicated that 5-HT or drugs acting on 5-HT neurotransmission regulate the serine/threonine kinase glycogen synthase kinase 3 beta (GSK3 beta). Furthermore, GSK3 beta inhibition rescues behavioural abnormalities in 5-HT-deficient mice with a loss-of-function mutation equivalent to the human variant (R441H) of tryptophan hydroxylase 2. 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GSK3 beta flox and GSK3 beta HET mice were kind gifts from Dr James Woodgett, Samuel Lunenfeld Research Institute, Toronto, Canada. This work was supported by the Canadian Institutes of Health Research (CIHR; grant NSA 93798), and a strategic innovation development project grant from the 'Fond de la Recherche en Sante du Quebec' (FRSQ). J.-M.B. holds a Canada Research Chair in Molecular Psychiatry and is a National Alliance for Research on Schizophrenia and Depression (NARSAD) Vital Projects Fund, Inc. Investigator. M.J.G. holds a Career Grant from the FRSQ. V.R. is supported by a Banting fellowship from the CIHR and C.L. holds a research fellowship from Centre de recherche sur le cerveau, le comportement et la neuropsychiatrie (CRCN). CR Bateup HS, 2010, P NATL ACAD SCI USA, V107, P14845, DOI 10.1073/pnas.1009874107 Beaulieu J. 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This prospective study followed and collected data on 33 individuals with autism spectrum disorder as they progressed through a supported employment model, working one-on-one with an employment specialist. Of the 33 individuals included in the study, 27 successfully obtained competitive employment, with a total of 29 positions secured. The successful results were achieved through the use of a supported employment model and skilled employment specialists who were able to provide a high level of social supports and compensatory training strategies for skill acquisition. Specifically, employment specialists supported individuals through four steps of an individualized supported employment model: (a) the development of a jobseeker profile and assessment, (b) guiding the job development and career search, (c) conducting job site training, and (d) designing long-term supports to promote job retention. 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Wilmer, Jeremy Nakayama, Ken TI Holistic processing of the mouth but not the eyes in developmental prosopagnosia SO COGNITIVE NEUROPSYCHOLOGY LA English DT Article DE Developmental prosopagnosia; Holistic face processing; Partwhole task ID FACE RECOGNITION ABILITY; AUTISM SPECTRUM DISORDERS; UPSIDE-DOWN FACES; ACQUIRED PROSOPAGNOSIA; CONGENITAL PROSOPAGNOSIA; FUNCTIONING AUTISM; INDIVIDUAL FACES; INVERSION LEADS; PERCEPTION; EXPERTISE AB Because holistic processing is a hallmark of normal face recognition, we ask whether such processing is reduced in developmental prosopagnosia (DP), and, if so, what the sources are of this deficit. Existing literature provides a mixed picture, with face inversion effects showing consistent holistic processing deficits but unable to locate their source and with some composite face studies showing reduced holistic processing and some not. We addressed this issue more thoroughly with a very large sample of DPs (N = 38) performing the partwhole task, a well-accepted measure of holistic processing that allows for the separate evaluation of individual face parts. Contrary to an expected overall reduction in holistic processing, we found an intact holistic advantage for the mouth and a complete absence of a holistic advantage for the eye region. Less severely impaired prosopagnosics showed significantly more holistic processing of the mouth, suggesting that holistic processing can aid them in recognizing faces. C1 [DeGutis, Joseph] Boston VA Healthcare Syst, Geriatr Res Educ & Clin Ctr, Jamaica Plain, MA 02130 USA. [DeGutis, Joseph; Cohan, Sarah; Nakayama, Ken] Harvard Univ, Dept Psychol, Vis Sci Lab, Cambridge, MA 02138 USA. [Mercado, Rogelio J.] Temple Univ, Dept Psychol, Philadelphia, PA 19122 USA. [Wilmer, Jeremy] Wellesley Coll, Dept Psychol, Wellesley, MA 02181 USA. RP DeGutis, J (reprint author), Boston VA Healthcare Syst, Geriatr Res Educ & Clin Ctr, Jamaica Plain, MA 02130 USA. EM degutis@wjh.harvard.edu FU Veterans Affairs Career Development Award; National Institutes of Health [5R01EY013602-07] FX We would like to thank all the developmental prosopagnosics and control participants for contributing their time and effort. We would also like to thank Sam Anthony, Anne Grossetete, and Long Ouyang for programming the tasks. Finally, we would like to acknowledge funding support from a Veterans Affairs Career Development Award for J.D. and a grant from the National Institutes of Health 5R01EY013602-07 awarded to K.N. Contributions: J.D. performed data analysis, wrote the manuscript, and contributed funding. S.C. recruited and tested developmental prosopagnosics, performed data analysis, and contributed to manuscript preparation. R.M. recruited and tested control subjects, performed data analysis, and contributed to manuscript preparation. J.W. helped with data analysis and contributed to manuscript preparation. K.N. contributed to manuscript preparation and contributed funding. 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TI STARTLE BLINK MODULATION DURING CIRCUMSCRIBED INTEREST AND FACE STIMULI IN AUTISM SPECTRUM DISORDER SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res DE startle; autism; circumscribed interests C1 [Benning, Stephen D.] Univ Nevada, Las Vegas, NV 89154 USA. [Sabatino, Anna; Franklin, Joseph C.; Sasson, Noah J.; Bodfish, James W.; Dichter, Gabriel S.] Univ N Carolina, Chapel Hill, NC USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S50 EP S50 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300278 ER PT J AU Dominguez, L Stieben, J Velazquez, J AF Dominguez, Luis Stieben, Jim Velazquez, Jose TI IMAGINARY COHERENCE AS A BIOMARKER OF AUTISM SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Dominguez, Luis; Stieben, Jim] York Univ, N York, ON M3J 1P3, Canada. [Velazquez, Jose] Univ Toronto, Toronto, ON M5S 1A1, Canada. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S9 EP S9 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300046 ER PT J AU Gayle, LC Kieffaber, PD AF Gayle, Leigh C. Kieffaber, Paul D. TI THE EFFECT OF AUTISM SPECTRUM PERSONALITY ON THE VISUAL MISMATCH NEGATIVITY SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res DE Mismatch Negativity; Emotion; Autism C1 [Gayle, Leigh C.; Kieffaber, Paul D.] Coll William & Mary, Williamsburg, VA 23187 USA. 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TI TMS EFFECTS ON CARDIAC AUTONOMIC CONTROL IN CHILDREN WITH AUTISM SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res DE Autism; Heart rate; TMS C1 [Hensley, Marie K.; El-Baz, Ayman S.; Sokhadze, Guela E.; Sears, Lonnie; Casanova, Manuel F.; Sokhadze, Estate M.] Univ Louisville, Louisville, KY 40292 USA. NR 0 TC 1 Z9 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S40 EP S40 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300223 ER PT J AU Lerner, MD Morris, JP McPartland, JC AF Lerner, Matthew D. Morris, James P. McPartland, James C. TI PROCESSING OF EMOTIONAL FACES AND VOICES IN AUTISM SPECTRUM DISORDERS: ERP CORRELATES AND INTERACTION WITH SOCIAL KNOWLEDGE SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Lerner, Matthew D.; Morris, James P.] Univ Virginia, Charlottesville, VA 22903 USA. [McPartland, James C.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S7 EP S7 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300033 ER PT J AU Lewis, GF McCue, K Stanfill, S Macellaio, M Porges, SW AF Lewis, Gregory F. McCue, Kimberly Stanfill, Shannon Macellaio, Matthew Porges, Stephen W. TI AUTONOMIC REACTIVITY AND AUDITORY PROCESSING COVARY IN AUTISM SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Lewis, Gregory F.; Porges, Stephen W.] Res Triangle Inst Int, Res Triangle Pk, NC USA. [McCue, Kimberly; Stanfill, Shannon; Macellaio, Matthew] Univ Illinois, Chicago, IL USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S7 EP S7 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300034 ER PT J AU Louwerse, A van der Geest, JN Tulen, JH Verhulst, FC Greaves-Lord, K AF Louwerse, Anneke van der Geest, Jos N. Tulen, Joke H. Verhulst, Frank C. Greaves-Lord, Kirstin TI GAZE BEHAVIOR AND SKIN CONDUCTANCE ACTIVITY IN REACTION TO EYES IN ADOLESCENTS WITH AUTISM SPECTRUM DISORDERS SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Louwerse, Anneke; van der Geest, Jos N.; Tulen, Joke H.; Verhulst, Frank C.; Greaves-Lord, Kirstin] Erasmus MC, Rotterdam, Netherlands. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S26 EP S26 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300149 ER PT J AU Mathewson, KJ Jetha, MK Drmic, IE Bryson, SE Goldberg, JO Schmidt, LA AF Mathewson, Karen J. Jetha, Michelle K. Drmic, Irene E. Bryson, Susan E. Goldberg, Joel O. Schmidt, Louis A. TI RELATIONS BETWEEN BEHAVIOURAL SYMPTOMATOLOGY AND REGIONAL EEG ALPHA POWER AND COHERENCE IN ADULTS WITH AUTISM SPECTRUM DISORDER SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Mathewson, Karen J.; Goldberg, Joel O.; Schmidt, Louis A.] McMaster Univ, Hamilton, ON L8S 4L8, Canada. [Jetha, Michelle K.] Brock Univ, St Catharines, ON L2S 3A1, Canada. [Drmic, Irene E.] York Univ, N York, ON M3J 1P3, Canada. [Bryson, Susan E.] Dalhousie Univ, Halifax, NS B3H 3J5, Canada. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S9 EP S9 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300045 ER PT J AU Monk, CS Swartz, JR Wiggins, JL Carrasco, M Lord, C AF Monk, Christopher S. Swartz, Johnna R. Wiggins, Jillian L. Carrasco, Melisa Lord, Catherine TI AMYGDALA ACTIVATION AND PREFRONTAL CORTEX FUNCTIONAL CONNECTIVITY IN YOUTH WITH AUTISM SPECTRUM DISORDERS SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Monk, Christopher S.; Swartz, Johnna R.; Wiggins, Jillian L.; Carrasco, Melisa; Lord, Catherine] Univ Michigan, Ann Arbor, MI 48109 USA. RI Monk, Christopher/J-1805-2014 NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S4 EP S4 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300017 ER PT J AU Patriquin, MA Scarpa, A Friedman, BH White, SW Kishida, KT AF Patriquin, Michelle A. Scarpa, Angela Friedman, Bruce H. White, Susan W. Kishida, Kenneth T. TI AUTISM SPECTRUM DISORDERS THROUGH A NEUROPHYSIOLOGICAL LENS SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Patriquin, Michelle A.; Scarpa, Angela; Friedman, Bruce H.; White, Susan W.] Virginia Tech, Blacksburg, VA USA. [Kishida, Kenneth T.] Virginia Tech, Caril Res Inst, Blacksburg, VA USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S7 EP S7 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300035 ER PT J AU Schaaf, RC Benevides, TW AF Schaaf, Roseann C. Benevides, Teal W. TI BEHAVIORAL AND AUTONOMIC NERVOUS SYSTEM MARKERS OF SENSORY REACTIVITY IN AUTISM SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res DE Autism; Sensory; Autonomic C1 [Schaaf, Roseann C.; Benevides, Teal W.] Thomas Jefferson Univ, Philadelphia, PA USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S117 EP S117 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300627 ER PT J AU Sokhadze, EM Kaplan, M Edelson, SM Kotsamanidis, B Hensley, MK Sokhadze, GE Dombroski, B Casanova, MF AF Sokhadze, Estate M. Kaplan, Melvin Edelson, Stephen M. Kotsamanidis, Barbara Hensley, Marie K. Sokhadze, Guela E. Dombroski, Brynn Casanova, Manuel F. TI AMBIENT PRISM LENSES AFFECT AUTONOMIC REACTIVITY AND ATTENTION TO AUDIO-VISUAL STIMULI IN AUTISM SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res DE Autism; Heart Rate; Skin Conductance Level C1 [Sokhadze, Estate M.; Hensley, Marie K.; Sokhadze, Guela E.; Dombroski, Brynn; Casanova, Manuel F.] Univ Louisville, Louisville, KY 40292 USA. [Kaplan, Melvin; Kotsamanidis, Barbara] Ctr Visual Management, New York, NY USA. [Edelson, Stephen M.] Autism Res Inst, San Diego, CA USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S40 EP S40 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300224 ER PT J AU Stieben, J Dominguez, L AF Stieben, Jim Dominguez, Luis TI TREATMENT RELATED CHANGES IN CORTICAL CONNECTIVITY IN FACE/EMOTION PROCESSING WITH PRESCHOOL AGE CHILDREN WITH AUTISM SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res DE EEG Cortical Coherence; Autism C1 [Stieben, Jim; Dominguez, Luis] York Univ, N York, ON M3J 1P3, Canada. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S117 EP S117 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300628 ER PT J AU Stieben, J Dominguez, L AF Stieben, Jim Dominguez, Luis TI TREATMENT-RELATED CHANGES IN EEG CONNECTIVITY IN PRESCHOOL CHILDREN WITH AUTISM SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res C1 [Stieben, Jim; Dominguez, Luis] York Univ, N York, ON M3J 1P3, Canada. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S8 EP S8 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300043 ER PT J AU Worsham, WA South, M Larson, MJ AF Worsham, Whitney A. South, Mikle Larson, Michael J. TI EVENT-RELATED POTENTIAL CORRELATES OF AFFECTIVE PICTURE DIFFERENTIATION IN HIGH-FUNCTIONING AUTISM SPECTRUM DISORDERS (ASD) SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res DE autism spectrum disorders; emotion differentiation C1 [Worsham, Whitney A.; South, Mikle; Larson, Michael J.] Brigham Young Univ, Provo, UT 84602 USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S85 EP S85 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300460 ER PT J AU [Anonymous] AF [Anonymous] TI NEW DEVELOPMENTS IN THE PSYCHOPHYSIOLOGY OF AUTISM SPECTRUM DISORDERS SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S6 EP S7 PG 2 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300032 ER PT J AU [Anonymous] AF [Anonymous] TI EEG CONNECTIVITY AND AUTISM: METHODOLOGICAL AND CLINICAL FEATURES SO PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 52nd Annual Meeting of the Society-for-Psychophysiological-Research CY SEP 19-23, 2012 CL New Orleans, LA SP Soc Psychophysiol Res NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD SEP PY 2012 VL 49 SU 1 SI SI BP S8 EP S8 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 080VN UT WOS:000314272300042 ER PT J AU Al-Eithan, MH Al Juban, HA Robert, AA AF Al-Eithan, Muwafak H. Al Juban, Hathab A. Robert, Asirvatham A. TI Alexithymia among Arab mothers of disabled children and its correlation with mood disorders SO SAUDI MEDICAL JOURNAL LA English DT Article ID DEVELOPMENTAL-DISABILITIES; RETARDED-CHILDREN; EATING-DISORDERS; MENTAL-HEALTH; PARENTS; DEPRESSION; AUTISM; SCALE; STABILITY; SYMPTOMS AB Objectives: To study alexithymia among mothers with disabled children in Saudi Arabia, and to explore if alexithymia is associated to their mood difficulties, and certain demographic variables. Methods: We conducted a prospective study during January 2011 to April 2012, on 86 mothers (study group) caring for children with physical, mental, or sensory disabilities treated at a major tertiary rehabilitation hospital in Riyadh, Saudi Arabia. A total of 32 mothers (control group) with healthy children were also included. The Hospital Anxiety and Depression Scale (HADS) was used to measure the mood symptoms of mothers. The Toronto Alexithymia Scale (TAS-20) was administered to assess the degree of alexithymia. The demographic data of mothers and children were also collected. Results: The mean age of children with a disability was 5.6.+/- 3.1, and for healthy children was 6.3 +/- 3.7 (range 1-14) years. The mean age of mothers in the study group (n=86) was 33.9 +/- 6.1, and in the control group (n=32) was 35.2 +/- 7.3 years. Mothers of children with disabilities had a significantly higher degree of alexithymia (p=0.001) and a significantly higher mean score of HADS-anxiety (p=0.042) and HADS-depression (p=0.021). Alexithymia had a significant correlation with mother's depression (p=0.0001) and anxiety (p=0.0001). No significant correlations were found between alexithymia and child's age (p=0.303), duration of disability (p=0.0941), and mother's age (p=0.235). Conclusion: Mothers caring for disabled children have higher features of alexithymia, and this is correlated to their elevated mood problems. Clinical implications are discussed. Saudi Med J 2012; Vol. 33(9): 995-1000 C1 [Al-Eithan, Muwafak H.] Sultan Bin Abdulaziz Humanitarian City, Med Affairs, Dept Psychol, Riyadh 11536, Saudi Arabia. [Robert, Asirvatham A.] Sultan Bin Abdulaziz Humanitarian City, Med Affairs, Res Ctr, Riyadh 11536, Saudi Arabia. [Al Juban, Hathab A.] Al Imam Muhammad Ibn Saud Islamic Univ, Dept Psychol, Riyadh 11536, Saudi Arabia. RP Al-Eithan, MH (reprint author), Sultan Bin Abdulaziz Humanitarian City, Med Affairs, Dept Psychol, POB 64399, Riyadh 11536, Saudi Arabia. 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J. PD SEP PY 2012 VL 33 IS 9 BP 995 EP 1000 PG 6 WC Medicine, General & Internal SC General & Internal Medicine GA 074ZF UT WOS:000313852900010 PM 22964812 ER PT J AU Freckelton, I AF Freckelton, Ian TI Expert evidence by mental health professionals: The communication challenge posed by evidence about Autism Spectrum Disorder, brain injuries, and Huntington's Disease SO INTERNATIONAL JOURNAL OF LAW AND PSYCHIATRY LA English DT Article DE Expert evidence; Autism Spectrum Disorder; Huntington's Disease; Foetal alcohol syndrome; Brain injury ID FETAL-ALCOHOL-SYNDROME; UNITED-STATES; PREVALENCE; DEATH; FAS AB By drawing upon mental health assessment issues about three non-mainstream conditions - Autism Spectrum Disorder, brain injuries, including Foetal Alcohol Syndrome, and Huntington's Disease - the author argues for the need for subtle, empathic and informed expert evidence about the potential nexus between such conditions and accused persons' criminal responsibility and culpability. He contends that what is forensically required is enhancement of the capacity of triers of fact to appreciate informedly and authentically, sometimes in a nuanced way, how persons with different, damaged or deteriorating brains experience situations and others' behaviour so that accused persons' conduct can fairly be evaluated without imposition of assumptions or expectations in respect of "normal persons" that may not be apposite. (C) 2012 Published by Elsevier Ltd. C1 [Freckelton, Ian] Monash Univ, Clayton, Vic 3800, Australia. RP Freckelton, I (reprint author), Barristers Clerk Howells, Owen Dixon Chambers W, 525 Lonsdale St, Melbourne, Vic 3000, Australia. 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J. Law Psychiatr. PD SEP-DEC PY 2012 VL 35 IS 5-6 SI SI BP 372 EP 379 DI 10.1016/j.ijlp.2012.09.008 PG 8 WC Law; Psychiatry SC Government & Law; Psychiatry GA 067SR UT WOS:000313315900005 PM 23151404 ER PT J AU Chojnicka, I Ploski, R AF Chojnicka, Izabela Ploski, Rafal TI Polish version of the ADOS (Autism Diagnostic Observation Schedule-Generic) SO PSYCHIATRIA POLSKA LA Polish DT Article DE autistic disorder/diagnosis; observation; psychometrics/statistics; numerical data AB The article presents the Polish version of the Autism Diagnostic Observation Schedule-Generic (ADOS), which together with the Autism Diagnostic Interview - Revised (ADI-R) is cited as the "gold standard" for the diagnosis of autism. The ADOS is a standardised, semi-structured observation protocol appropriate for children and adults of differing age and language levels. It is linked to ICD-10 and DSM-IV-TR criteria. The ADOS consists of four modules, ranging from Module 1 for nonverbal individuals to Module 4 for verbally fluent adults. The adequate inter-rater reliability for items has been established. The protocol has high discriminant validity and distinguishes children with pervasive developmental disorders from children, who are outside of the spectrum. Although it does not enable to distinguish individuals with pervasive developmental disorder, unspecified from individuals with childhood autism. The paper presents subsequent steps of the translation process of the original version into Polish, as well as a chosen adaptation strategy of the Polish version. The ADOS is a very useful tool both for clinical diagnosis and for the scientific purpose diagnosis. In this last case it is extremely important to use a standardised method. Until now, there was no standardised diagnostic tool for autism in Poland. C1 [Chojnicka, Izabela; Ploski, Rafal] Zaklad Genetyki Med WUM, PL-02106 Warsaw, Poland. 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D., 2007, RES AUTISM SPECT DIS, V1, P304 Zwaigenbaum L, 2007, J AUTISM DEV DISORD, V37, P466, DOI 10.1007/s10803-006-0179-x NR 99 TC 4 Z9 4 PU COUNCIL EXCEPTIONAL CHILDREN PI ARLINGTON PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA SN 1053-8151 EI 2154-3992 J9 J EARLY INTERVENTION JI J. Early Interv. PD SEP PY 2012 VL 34 IS 3 BP 166 EP 189 DI 10.1177/1053815112470721 PG 24 WC Education, Special; Psychology, Educational; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 060KW UT WOS:000312777700003 ER PT J AU Acar, C Diken, IH AF Acar, Cimen Diken, Ibrahim H. TI Reviewing Instructional Studies Conducted Using Video Modeling to Children with Autism SO KURAM VE UYGULAMADA EGITIM BILIMLERI LA English DT Review DE Autistic Disorder (Autism); Video Modeling; Review; Research ID TEACH PERSPECTIVE-TAKING; OF-THE-LITERATURE; SPECTRUM DISORDERS; COMMUNICATION-SKILLS; YOUNG-CHILDREN; SOCIAL-SKILLS; PRETEND PLAY; IN-VIVO; SELF; REINFORCEMENT AB This study explored 31 instructional research articles written using video modeling to children with autism and published in peer-reviewed journals. The studies in this research have been reached by searching EBSCO, Academic Search Complete, ERIC and other Anadolu University online search engines and using keywords such as "autism, video modeling, autism spectrum disorders with video modeling and video modeling interventions". It is observed that most of studies have been carried out with children with autism aged between 3 and 11. The studies have been categorized based on their scopes: studies conducted using only video modeling, video modeling studies in which subjects of studies are models, studies in which video modeling and additional practices are used together and studies in which video modeling is compared with other practices. It is observed also that results of studies have indicated that video modeling is effective on teaching social skills, play skills, language and communication skills, functional skills, self-care skills, and daily life skills to children with autism. C1 [Diken, Ibrahim H.] Anadolu Univ, Dept Special Educ, Eskisehir, Turkey. RP Diken, IH (reprint author), Eskisehir Anadolu Univ, Egitim Fak, Ozel Egitim Bolumu, Yunus Emre Kampusu, TR-26470 Eskisehir, Turkey. EM ihdiken@anadolu.edu.tr CR Ayres KM, 2005, EDUC TRAIN DEV DISAB, V40, P183 Bellini S, 2007, SCHOOL PSYCHOL REV, V36, P80 Bellini S, 2007, EXCEPT CHILDREN, V73, P264 Buggey T., 2005, FOCUS AUTISM OTHER D, V20, P52, DOI DOI 10.1177/10883576050200010501 Charlop M. H., 2010, ED TREATMENT CHILDRE, V33, P371, DOI DOI 10.1353/ETC.0.0104 Charlop-Christy MH, 2000, J AUTISM DEV DISORD, V30, P537, DOI 10.1023/A:1005635326276 Charlop-Christy MH, 2003, J POSIT BEHAV INTERV, V5, P12, DOI 10.1177/10983007030050010101 Corbett B., 2003, BEHAV ANAL TODAY, V4, P367 Corbett B. A., 2005, J EARLY INTENSIVE BE, V2, P2 D'Ateno P, 2003, J POSIT BEHAV INTERV, V5, P5, DOI 10.1177/10983007030050010801 Dauphin M, 2004, J POSIT BEHAV INTERV, V6, P238, DOI 10.1177/10983007040060040501 Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401 Diken I. H., 2010, TURK ERK MUD YAKL SE Gena A, 2005, J AUTISM DEV DISORD, V35, P545, DOI 10.1007/s10803-005-0014-9 Graetz J. 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PD FAL PY 2012 VL 12 IS 4 BP 2731 EP 2735 PG 5 WC Education & Educational Research SC Education & Educational Research GA 035OC UT WOS:000310955500022 ER PT J AU Ergenekon, Y AF Ergenekon, Yasemin TI Teaching Basic First-Aid Skills against Home Accidents to Children with Autism through Video Modeling SO KURAM VE UYGULAMADA EGITIM BILIMLERI LA English DT Article DE Basic First-Aid Skills; Safety Skills; Home Accidents; Video Modeling; Children with Autism ID MODERATE INTELLECTUAL DISABILITIES; SEVERE MENTAL-RETARDATION; YOUNG-CHILDREN; 1ST AID; STUDENTS; PROGRAM; SAFETY; INSTRUCTION; ADULTS; INDIVIDUALS AB It is known that children with DD can learn first-aid skills and use whenever needed. Applying first-aid skills was taught to three inclusion students with autism through "first-aid skills training package". In the study multiple probe design with probe trials across behaviors was used. The findings indicated that first-aid skills training package was effective and the subjects maintained and generalized their acquired skills to the cuts, abrasions, and minor burns on their own or researcher's different parts of body and to different materials. Social validity data that was collected through social comparison revealed that the subjects could not accomplish these target behaviors before the intervention but their peers with normal development could accomplish these skills at 78% level. C1 Anadolu Univ, Res Inst Handicapped, TR-26470 Eskisehir, Turkey. RP Ergenekon, Y (reprint author), Anadolu Univ, Res Inst Handicapped, TR-26470 Eskisehir, Turkey. 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Psychiatr. PD SEP PY 2012 VL 2 AR e158 DI 10.1038/tp.2012.75 PG 13 WC Psychiatry SC Psychiatry GA 062DT UT WOS:000312900000003 PM 22948383 ER PT J AU Dong, E Gavin, DP Chen, Y Davis, J AF Dong, E. Gavin, D. P. Chen, Y. Davis, J. TI Upregulation of TET1 and downregulation of APOBEC3A and APOBEC3C in the parietal cortex of psychotic patients SO TRANSLATIONAL PSYCHIATRY LA English DT Article DE post-mortem brain; TET; AID/APOBECs; 5hmC; epigenetic ID ACTIVE DNA DEMETHYLATION; PREFRONTAL CORTEX; MESSENGER-RNA; SCHIZOPHRENIC-PATIENTS; EPIGENETIC MECHANISMS; BIPOLAR DISORDER; MAJOR PSYCHOSIS; GENE-EXPRESSION; RELN PROMOTER; MOUSE-BRAIN AB Increasing evidence suggests that epigenetic dysfunction may account for the alteration of gene transcription present in neuropsychiatric disorders such as schizophrenia (SZ), bipolar disorder (BP) and autism. Here, we studied the expression of the ten-eleven translocation (TET) gene family and activation-induced deaminase/apolipoprotein B mRNA-editing enzymes (AID/APOBEC) in the inferior parietal lobule (IPL) (BA39-40) and the cerebellum of psychotic (PSY) patients, depressed (DEP) patients and nonpsychiatric (CTR) subjects obtained from the Stanley Foundation Neuropathology Consortium Medical Research Institute. These two sets of enzymes have a critical role in the active DNA demethylation pathway. The results show that TET1, but not TET2 and TET3, mRNA and protein expression was increased (two-to threefold) in the IPL of the PSY patients compared with the CTR subjects. TET1 mRNA showed no change in the cerebellum. Consistent with the increase of TET1, the level of 5-hydroxymethylcytosine (5hmC) was elevated in the IPL of PSY patients but not in the other groups. Moreover, higher 5hmC levels were detected at the glutamic acid decarboxylase67 (GAD67) promoter only in the PSY group. This increase was inversely related to the decrease of GAD67 mRNA expression. Of 11 DNA deaminases measured, APOBEC3A mRNA was significantly decreased in the PSY and DEP patients, while APOBEC3C was decreased only in PSY patients. The other APOBEC mRNA studied failed to change. Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis. Translational Psychiatry (2012) 2, e159; doi:10.1038/tp.2012.86; published online 11 September 2012 C1 [Dong, E.; Gavin, D. P.; Chen, Y.; Davis, J.] Univ Illinois, Coll Med, Inst Psychiat, Dept Psychiat, Chicago, IL 60612 USA. RP Dong, E (reprint author), Univ Illinois, Coll Med, Inst Psychiat, Dept Psychiat, 1601W Taylor St, Chicago, IL 60612 USA. EM Edong@psych.uic.edu FU University of Illinois at Chicago FX We thank Drs A Guidotti, DR Grayson and P Tueting for their critical reading and comments on the manuscript. We gratefully acknowledge the support of ROAA fund from University of Illinois at Chicago. 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EM d0704@www.cmuh.org.tw RI liu, yuhuei/D-2539-2014 OI liu, yuhuei/0000-0002-3603-868X FU China Medical University, Taichung, Taiwan [CMU-98-asia-04, DMR-101-118]; National Science Council, Taipei, Taiwan [98-2320-B-039-008-MY3] FX Wen-Ling Liao and Yu-Huei Liu contributed equally to this work. We thank Hsin-Hui Chen for the technical assistance in preparation of DNA and analysing the variations. This study was supported by research grants from China Medical University, Taichung (CMU-98-asia-04 and DMR-101-118), Taiwan and 98-2320-B-039-008-MY3 from National Science Council, Taipei, Taiwan. 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TI Single Cell Genomics of the Brain: Focus on Neuronal Diversity and Neuropsychiatric Diseases SO CURRENT GENOMICS LA English DT Article DE Aneuploidy; Brain; Chromosome instability; Disease; Epigenome; Genomic variations; Single cell genomics; Somatic mosaicism ID ATAXIA-TELANGIECTASIA BRAIN; IN-SITU HYBRIDIZATION; COPY NUMBER VARIATION; ALZHEIMERS-DISEASE; CHROMOSOME INSTABILITY; SOMATIC MOSAICISM; INTERPHASE CHROMOSOMES; HUMAN TISSUES; NEURODEGENERATIVE DISEASES; MOLECULAR CYTOGENETICS AB Single cell genomics has made increasingly significant contributions to our understanding of the role that somatic genome variations play in human neuronal diversity and brain diseases. Studying intercellular genome and epigenome variations has provided new clues to the delineation of molecular mechanisms that regulate development, function and plasticity of the human central nervous system (CNS). 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Rev. Med. Pharmacol. Sci. PD SEP PY 2012 VL 16 IS 9 BP 1313 EP 1314 PG 2 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 028EN UT WOS:000310405700026 PM 23047522 ER PT J AU Silton, NR Fogel, J AF Silton, Nava R. Fogel, Joshua TI ENHANCING POSITIVE BEHAVIORAL INTENTIONS OF TYPICAL CHILDREN TOWARDS CHILDREN WITH AUTISM SO JOURNAL OF COGNITIVE AND BEHAVIORAL PSYCHOTHERAPIES LA English DT Article DE autistic disorder; attitude; intentions; peer group; schools ID SOCIAL-INTERACTION; SPECTRUM DISORDER; PLANNED BEHAVIOR; PEER; ATTITUDES; GENDER; INTERVENTION; SCHOOL; PRESCHOOLERS; INDIVIDUALS AB This experimental study examined the potential additive benefit of peer strategies (PS) and strengths information (SI) over descriptive and explanatory (D+E) information in enhancing typical children's behavioral intentions and cognitive attitudes towards children with autism. 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Rec. PD FAL PY 2012 VL 62 IS 4 BP 789 EP 816 PG 28 WC Psychology, Multidisciplinary SC Psychology GA 036CA UT WOS:000311002800015 ER PT J AU De Andres-Garcia, S Moya-Albiol, L Gonzalez-Bono, E AF De Andres-Garcia, S. Moya-Albiol, L. Gonzalez-Bono, E. TI Salivary cortisol and immunoglobulin A: Responses to stress as predictors of health complaints reported by caregivers of offspring with autistic spectrum disorder SO HORMONES AND BEHAVIOR LA English DT Article DE Caregivers; Acute psychosocial stress; Autistic spectrum disorder; Immunoglobulin A; Cortisol; Mood; Health complaints; Chronic stress ID HIGH-FUNCTIONING AUTISM; PITUITARY-ADRENAL AXIS; NORMAL SEX-DIFFERENCES; LOW SECRETION RATES; DEMENTIA PATIENTS; DEVELOPMENTAL-DISABILITIES; PARENTAL CAREGIVERS; ANTIBODY-RESPONSE; ASPERGER-SYNDROME; IMMUNE-RESPONSE AB In the caregiving model of chronic stress, few studies have been conducted with young middle-aged samples and no data exists about acute stress response in this population. To extend knowledge in this issue, health complaints and psychological, endocrine, and immunological responses to stress have been assessed in a cross-sectional sample of 41 parents of offspring with autistic spectrum disorder (ASD) in comparison with 37 non-caregiver parents. Salivary cortisol and immunoglobulin A (IgA) levels were measured before, during, and after a mental psychosocial stressor, while mood and state anxiety were evaluated before and after the stress. Health complaints, personality traits, socio-economic status, and characteristics of the care recipient were assessed. Caregivers reported more health complaints showing buffered cortisol and IgA responses and greater increases in fatigue to acute stress than the controls. In terms of predictive power of health complaints, IgA levels, care status, and severity of the care recipient are especially relevant for caregivers. Results strongly suggest a dysregulation in the immune and hormonal stress-induced responses in middle-aged caregivers, with immune component and care characteristics as the main modulators of health complaints. A deficit in the adaptive capability of stress response is plausible in this population, emphasizing the need to consider family approaches when planning protocols for assistance to ASD patients. (C) 2012 Elsevier Inc. All rights reserved. C1 [De Andres-Garcia, S.; Moya-Albiol, L.; Gonzalez-Bono, E.] Univ Valencia, Psychol Ctr, Dept Psychobiol, Valencia 46010, Spain. RP Gonzalez-Bono, E (reprint author), Univ Valencia, Psychol Ctr, Dept Psychobiol, Avda Blasco Ibanez 21, Valencia 46010, Spain. EM Esperanza.Gonzalez@uv.es RI GONZALEZ-BONO, ESPERANZA/K-2953-2012; Moya-Albiol, Luis/C-6078-2011 FU Ministry of Science and Education of the Spanish Government [PSI2008-04408/PSIC]; General Direction of Science Policy of the Ministry of Education of the Valencian Regional Government [ACOMP/2010/250, PROMETEO/2011/048]; University of Valencia Research Service [UV-INV-AE11-41173] FX This work was supported by the Ministry of Science and Education of the Spanish Government (PSI2008-04408/PSIC), by the General Direction of Science Policy of the Ministry of Education of the Valencian Regional Government (ACOMP/2010/250 and PROMETEO/2011/048), and by the University of Valencia Research Service (UV-INV-AE11-41173). The use of English was revised by John Rawlins. 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Behav. PD SEP PY 2012 VL 62 IS 4 BP 464 EP 474 DI 10.1016/j.yhbeh.2012.08.003 PG 11 WC Behavioral Sciences; Endocrinology & Metabolism SC Behavioral Sciences; Endocrinology & Metabolism GA 031PJ UT WOS:000310654100015 PM 22981424 ER PT J AU Guo, X Tu, WJ Shi, XD AF Guo, Xin Tu, Wen-Jun Shi, Xiao-Dong TI Tuberous Sclerosis Complex in Autism SO IRANIAN JOURNAL OF PEDIATRICS LA English DT Article DE Tuberous Sclerosis Complex; Autism; Autistic Disorder; Neurocutaneous Syndromes ID MEDICAL DISORDERS; CHILDREN AB Objective: To study the prevalence rate of tuberous sclerosis complex in autistic disorder. Methods: We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005-2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Findings: Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70. 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J. Pediatr. PD SEP PY 2012 VL 22 IS 3 BP 408 EP 411 PG 4 WC Pediatrics SC Pediatrics GA 028GN UT WOS:000310410900022 PM 23400643 ER PT J AU Shachar, BZ Lyell, DJ AF Shachar, Bat Zion Lyell, Deirdre J. TI Interpregnancy Interval and Obstetrical Complications SO OBSTETRICAL & GYNECOLOGICAL SURVEY LA English DT Article ID LOW-BIRTH-WEIGHT; CLOSELY SPACED PREGNANCIES; PREVIOUS CESAREAN DELIVERY; NEURAL-TUBE DEFECTS; PERINATAL OUTCOMES; UTERINE RUPTURE; PRETERM DELIVERY; INTERDELIVERY INTERVAL; MATERNAL MORBIDITY; NEONATAL DEATH AB Obstetricians are often presented with questions regarding the optimal interpregnancy interval (IPI). Short IPI has been associated with adverse perinatal and maternal outcomes, ranging from preterm birth and low birth weight to neonatal and maternal morbidity and mortality. Long IPI has in turn been associated with increased risk for preeclampsia and labor dystocia. In this review, we discuss the data regarding these associations along with recent studies revealing associations of short IPI with birth defects, schizophrenia, and autism. The optimal IPI may vary for different subgroups. We discuss the consequences of short IPI in women with a prior cesarean section, in particular the increased risk for uterine rupture and the considerations regarding a trial of labor in this subgroup. We review studies examining the interaction between short IPI and advanced maternal age and discuss the risk-benefit assessment for these women. Finally, we turn our attention to women after a stillbirth or an abortion, who often desire to conceive again with minimal delay. We discuss studies speaking in favor of a shorter IPI in this group. The accumulated data allow for the reevaluation of current IPI recommendations and management guidelines for women in general and among subpopulations with special circumstances. In particular, we suggest lowering the current minimal IPI recommendation to only 18 months (vs 24 months according to the latest World Health Organization recommendations), with even shorter recommended minimal IPI for women of advanced age and those who conceive after a spontaneous or induced abortion. C1 [Shachar, Bat Zion; Lyell, Deirdre J.] Stanford Univ, Sch Med, Dept Obstet & Gynecol, Stanford, CA 94305 USA. [Shachar, Bat Zion] Stanford Univ, Sch Med, Dept Pediat Neonatal & Dev Med, Stanford, CA 94305 USA. [Lyell, Deirdre J.] Stanford Univ, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA. RP Shachar, BZ (reprint author), Stanford Univ, Sch Med, Dept Obstet & Gynecol, Stanford, CA 94305 USA. 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Gynecol. Surv. PD SEP PY 2012 VL 67 IS 9 BP 584 EP 596 DI 10.1097/OGX.0b013e31826b2c3e PG 13 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA 030JZ UT WOS:000310568300018 PM 22990461 ER PT J AU Dixit, A Patel, C Harrison, R Jarvis, J Hulton, S Smith, N Yates, K Silcock, L McMullan, DJ Suri, M AF Dixit, Abhijit Patel, Chirag Harrison, Rachel Jarvis, Joanna Hulton, Sally Smith, Nigel Yates, Katherine Silcock, Lee McMullan, Dominic J. Suri, Mohnish TI 17q12 Microdeletion Syndrome: Three Patients Illustrating the Phenotypic Spectrum SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE renal cysts and diabetes syndrome (RCAD); cystic kidney disease; maturity onset diabetes of the young type 5(MODY 5); blepharophimosis; blocked nasolacrimal duct; hypospadias; laryngomalacia; transient hypercalcemia; paucity of intrahepatic bile ducts; atypical Alagille syndrome ID GENOMIC REARRANGEMENTS; HYPERECHOGENIC KIDNEYS; CLINICAL SPECTRUM; CHROMOSOME 17Q12; TCF2 GENE; YOUNG; DELETION; HNF-1-BETA; ANOMALIES; AUTISM AB Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome. (C) 2012 Wiley Periodicals, Inc. C1 [Dixit, Abhijit; Harrison, Rachel; Suri, Mohnish] City Hosp Nottingham, Dept Clin Genet, Nottingham NG5 1PB, England. [Patel, Chirag; Jarvis, Joanna] Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham, W Midlands, England. [Hulton, Sally] Birmingham Childrens Hosp, Dept Paediat Nephrol, Birmingham, W Midlands, England. [Smith, Nigel; Yates, Katherine] City Hosp Nottingham, Dept Cytogenet, Nottingham NG5 1PB, England. [Silcock, Lee; McMullan, Dominic J.] Birmingham Womens Hosp, Dept Mol Cytogenet, Birmingham, W Midlands, England. RP Suri, M (reprint author), City Hosp Nottingham, Dept Clin Genet, Hucknall Rd, Nottingham NG5 1PB, England. 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J. Med. Genet. A PD SEP PY 2012 VL 158A IS 9 BP 2317 EP 2321 DI 10.1002/ajmg.a.35520 PG 5 WC Genetics & Heredity SC Genetics & Heredity GA 023WU UT WOS:000310068700035 PM 22887843 ER PT J AU Taleb, MO AF Taleb, Mahmoud Ould TI Autism and work with the mothers' of autistic children. Therapeutic application in Alger, from 2005 to 2010 SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Algeria; Autism; Exchange and development therapy; Mothers as "co-therapists"; Schopler's TEACCH program ID SPECTRUM DISORDERS; INTERVENTIONS AB In Algeria, child psychiatry is an emerging area of medical specialization which is very late in becoming part of the training for professionals and the provision of services. Due to this, the quality of the treatment of serious mental disorders for children and adolescents is insufficient, diverse, and sometimes non-existant. Currently autism is the major reason for consultation and treatment; the diagnosis is often late and comes when the child already has a significant developmental lag and cannot be enrolled in school - often the reason for the referral. The existing resources in our area are as follows: three units with part-time hospitalization in the capital and its suburbs, 40 child psychiatrists trained during the last two years in collaboration with the WHO, about ten outpatients clinics covering an extended territory with significant socio-demographic and health differences. Only from 18 years of age does the authorities in Algeria recognize autism (in fact as a mental retardation) with a minimal monthly family allowance to parents often at a loss or isolated when faced with an offer of assistance that is limited or difficult to access. Objectives. - After having reviewed our sources for this work with the parents concerning autism, we then describe its organization, sequence of events, the difficulties encountered, and discuss propositions for further improvements. Population and method. - In this context, the choice and application of a therapeutic method for autistic children needs to take into account the many constraints in terms of infrastructure and human resources. Due to its simplicity and effectiveness, we have, for both theoretical and practical purposes, for the past decade, considered that it was a good strategy to associate the exchange and development therapy with the Schopler's TEACCH program for those children receiving treatment in our daytime hospital service. It also met the professional qualification of our collaborators - most of them psychologists, speech therapists and care assistants. Another reason is that it is indispensable that the mothers of autistic children are involved in the treatment in order to obtain significant gains (Bartoov et al., 2002 [15] and Bartoov et al., 2001 1161). Results. - This therapeutic application was implemented during 2005-2010 for a hundred autistic children and their mothers: 80 of them in daytime medical institution and 20 as outpatients with the same technical support. The mothers as "co-therapists" received a two-hour per month training (from September to June) during three years according to the rules and principles of the teaching activities for autistic children and "the educational strategies of autism" for parental practice, both coming from the TEACCH program (Li et al., 2006 [19] and Velez de la Calle et al., 2008 [20]). Conclusion. - This involvement, while less than desirable, is proportional to our resources and nevertheless sufficiently promising and structuring to engage care dynamics and show beneficial effects in cognitive, affective and behavioral fields of the autistic child. After having reviewed our sources for this. work with the parents concerning autism, we then describe its organization, sequence of events, the difficulties encountered, and discuss propositions for further improvements. We then carefully examine the difficulties encountered, the means we have in order to make some progress, and we discuss how to evaluate the results, in the context of an experiment which is only beginning in this field in a developping nation. Last, but not least, we also took into consideration the "non-cooperative" mothers in order to adapt our therapy to their personal needs and to elaborate different objectives as far as they are concerned. (C) 2012 Elsevier Masson SAS. All rights reserved. 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PD SEP PY 2012 VL 170 IS 7 BP 449 EP 455 DI 10.1016/j.amp.2012.05.018 PG 7 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000001 ER PT J AU Goussot, T Auxiette, C Chambres, P AF Goussot, T. Auxiette, C. Chambres, P. TI Educational interventions for children with autism only succeed when appropriate parents interventions also succeed SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Stress; Anxiety; Depression; Family care; Autism ID BEHAVIORAL-ADJUSTMENT; ASPERGER-SYNDROME; SOCIAL SUPPORT; SIBLINGS; DIAGNOSIS; STRESS; FAMILY; SCALE; DEPRESSION; COMPETENCE AB The international literature on autism reports numerous findings consistent with the proposal that educational interventions for children with autism should begin as early as possible. 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Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 456 EP 460 DI 10.1016/j.amp.2010.11.021 PG 5 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000002 ER PT J AU Chabane, N AF Chabane, Nadia TI The early diagnosis of autism spectrum disorders SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism spectrum disorders ID INFANT SIBLINGS; LIFE; COMMUNICATION; RISK; POPULATION; PREVALENCE; REGRESSION; EMERGENCE; TODDLERS; PATTERNS AB The early detection of autism spectrum disorders represents a crucial stake because it allows to set up an intensive and early adapted care at an age where certain processes of development can still be modified. The recent studies on the very early signs show that TSA does not affect in a objectivised way the development of the socialization in the 12 first months of life. TSA have a gradual beginning, modifying the course of the development and the behavioral patterns between 12 and 36 months. The identification of biological markers would allow to strengthen the strategies of detection and diagnosis in very young children. However, the existence of signs of alert imposes a vast training of the healthcare professionals and the implementation of support strategies for these children in order to modify the spontaneous trajectory of the TSA. (C) 2012 Published by Elsevier Masson SAS. C1 Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, F-75019 Paris, France. RP Chabane, N (reprint author), Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, 48 Blvd Serurier, F-75019 Paris, France. 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Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 462 EP 465 DI 10.1016/j.amp.2012.07.002 PG 4 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000004 ER PT J AU Tonus, A AF Tonus, Adelaide TI Asperger's syndrome: An early diagnosis in a unique discussed category? SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Asperger's syndrome; Autism; Children ID HIGH-FUNCTIONING AUTISM; DISORDER AB The trend currently observed goes towards regrouping all various autistic syndromes under one unique category, the autism-spectrum disorder. Asperger's syndrome could therefore disappear from the international classifications for mental illnesses. Indeed, the lack of general consensus on Asperger's definition is by essence an argument against the syndrome's own existence. Moreover, the distinction between Asperger's syndrome and high level autism is blurry for the least. The differences between the two disorders are measurable in terms of symptomatic intensity rather than in terms of truly distinctive symptomatic profiles, which also argues in favor of the continuity of the autism-spectrum. Several years separate the appearance of the first autistic symptoms and the final diagnosis for autism, especially for Asperger's as it is defined today. However, the first clinical signs of autism occur/manifest during early childhood. Thus, taking a closer interest at the child's psychomotor development could favor an early diagnosis of Asperger's syndrome. Movement, which can be defined as the first sign of language, could therefore be used as a mean to diagnose and study the different types of autistic disorders. Even if no early signs of Asperger syndrome manifest, parents should nonetheless react in the same manner as autism (i.e. by setting up tools of adaptation to socialization very early). The primary benefit of early diagnosis is foremost the higher efficiency of early treatment. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, F-75019 Paris, France. RP Tonus, A (reprint author), Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, 48 Blvd Serurier, F-75019 Paris, France. EM delle.h@hotmail.fr CR Bennett T, 2008, J AUTISM DEV DISORD, V38, P616, DOI 10.1007/s10803-007-0428-7 Ehlers F, 1999, J AUTISM DEV DISORD, V29, P129 Fombonne E, 2005, J CLIN PSYCHIAT, V66, P3 Garnett M, 1995, AUSTR NAT AUT C Howlin P, 1999, DEV MED CHILD NEUROL, V41, P834, DOI 10.1017/S0012162299001656 Kopra K, 2008, J AUTISM DEV DISORD, V38, P1567, DOI 10.1007/s10803-008-0537-y Macintosh K, 2006, J AUTISM DEV DISORD, V36, P1065, DOI 10.1007/s10803-006-0139-5 Noterdaeme M, 2010, EUR CHILD ADOLES PSY, V19, P475, DOI 10.1007/s00787-009-0057-0 South M, 2005, J AUTISM DEV DISORD, V35, P145, DOI 10.1007/s10803-005-1992-3 Szatmari P, 2009, J CHILD PSYCHOL PSYC, V50, P1459, DOI 10.1111/j.1469-7610.2009.02123.x Teitelbaum O, 2004, P NATL ACAD SCI USA, V101, P11909, DOI 10.1073/pnas.0403919101 Verte S, 2006, AUTISM, V10, P266, DOI 10.1177/1362361306063299 WING L, 1981, PSYCHOL MED, V11, P115 NR 13 TC 0 Z9 0 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0003-4487 J9 ANN MED-PSYCHOL JI Ann. Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 467 EP 470 DI 10.1016/j.amp.2012.06.022 PG 4 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000006 ER PT J AU Cappe, E AF Cappe, Emilie TI Effect of social and school inclusion on adjustment and quality of life of parents with a child having an autism spectrum disorder SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Adjustment; Autism spectrum disorder; Parents; Quality of life ID ASPERGER SYNDROME; ADAPTATION AB Social and school inclusion for people with autistic spectrum disorder is an important current issue. Thus, the objective of this study was to consider the effect of social and school inclusion on parents' adjustment and quality of life. We met 160 parents who filled out several self-rating scales for assessing: 1) information about the child and the family situation; 2) perceived stress; 3) perceived social support; 4) perceived control; 5) coping strategies; 6) quality of life. The results show that parents with a child who goes to school and those with a child who has leisure activities in ordinary environment, are less stressed, use more effective coping strategies and have a better quality of life. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 Univ Paris 05, LPPS, EA 4057, Inst Psychol, F-92100 Boulogne, France. RP Cappe, E (reprint author), Univ Paris 05, LPPS, EA 4057, Inst Psychol, 71 Ave Edouard Vaillant, F-92100 Boulogne, France. 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Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 471 EP 475 DI 10.1016/j.amp.2012.06.015 PG 5 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000007 ER PT J AU Delorme, R Mouren, MC AF Delorme, Richard Mouren, Marie-Christine TI Autism Spectrum Disorders: What do we learn from genetics? SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism; Gene; Mutations; Phenotype ID MENTAL-RETARDATION; MUTATIONS; NEUROLIGINS; REVEALS; LINKAGE; GENES; NLGN4; SCAN; RISK; LOCI AB Autism spectrum disorders (ASD) are a heterogeneous group of pervasive neurodevelopmental disorders affecting 1% of the population. The diagnosis of ASD is based on impairments in reciprocal social communication and stereotyped behaviors. It is now understood that autism symptoms can be caused either by gene mutations or by chromosomal aberrations. In the last years, various independent studies and large-scale international efforts have identified rare variants, copy number variants (CNVs) and single nucleotide variants (SNVs) associated with ASD and suggested a set of mechanisms that could underlie the ASD phenotype. In this review, we present the main rare variants associated with ASD as well as early findings on the identification of common variants as risk factors. A better characterization of the genetic and phenotypic heterogeneity of ASD will help to understand the epistasis between the rare and common variants. (C) 2012 Published by Elsevier Masson SAS. C1 [Delorme, Richard; Mouren, Marie-Christine] Hop Robert Debre, Serv Pedopsychiat, F-75019 Paris, France. [Delorme, Richard] Inst Pasteur, CNRS URA2182, Paris, France. RP Delorme, R (reprint author), Hop Robert Debre, Serv Pedopsychiat, 48 Blvd Serurier, F-75019 Paris, France. 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Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 476 EP 478 DI 10.1016/j.amp.2012.07.001 PG 3 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000009 ER PT J AU Bargiacchi, A AF Bargiacchi, Anne TI Contribution of the technology of the new brain RMI images in the autism spectrum disorders SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism; Autism spectrum disorders; Default brain network; IRM; PET scan; Social brain ID HIGH-FUNCTIONING AUTISM; SUPERIOR TEMPORAL SULCUS; VOXEL-BASED MORPHOMETRY; CHILDHOOD AUTISM; WHITE-MATTER; SENTENCE COMPREHENSION; CORTICAL ACTIVATION; SOCIAL-PERCEPTION; CORPUS-CALLOSUM; WORKING-MEMORY AB Understanding the brain abnormalities present in autistic patients has evolved considerably since the advent of MRI and functional imaging. Recent techniques for acquiring and processing images allow a fine analysis of anatomical, functional and statistical processing of the images. Currently, studies converge to establish the existence of anatomic and functional abnormalities ties in areas of "social brain" in autism. First, the visual analysis of brain MR images of a group of autistic children showed the presence of abnormalities mainly localized in the temporal lobe. On the other hand, statistical analyzes show a decrease in gray matter in regions of the "social brain" in individuals with autism compared to a group of controls. Functional studies (PET scan) show a decrease in cerebral blood flow at rest in the same regions in patients. Hypo-activation in the area specialized in the treatment of the human voice in the superior temporal sulcus in patients is also described, but also the hypo-activation of brain regions involved in more complex tasks of social cognition. Abnormalities of the anatomical and functional connectivity between frontal and temporal regions have been highlighted in several studies. Finally, very recent studies concerned with the "default brain network" suggest functional alterations of this circuit in this disorder. These areas (social brain, default brain network) are involved in processing stimuli necessary for social and emotional life. The abnormalities found may thus partly explain the profound abnormalities in social behavior in individuals with autism. (C) 2012 Published by Elsevier Masson SAS. C1 Hop Robert Debre, Serv Psychiat Enfant & Adolescent, F-75019 Paris, France. RP Bargiacchi, A (reprint author), Hop Robert Debre, Serv Psychiat Enfant & Adolescent, 48 Blvd Serurier, F-75019 Paris, France. 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Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 479 EP 481 DI 10.1016/j.amp.2012.07.006 PG 3 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000010 ER PT J AU Cuny, F AF Cuny, Francine TI Social habilities training groups SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Asperger's Syndrome; High-functioning Autism disorder; Social Skills; Training AB The biggest challenge for individuals with Asperger's Syndrome (AS) or High Functioning Autism disorder (HFAd) is to know how to communicate and interact with others in a social setting. Individuals AS and HFA do not know or use the basis skills that come naturally to other people. Those social skills being the basis for almost all relationships, personal as well as business, individuals AS and FIFA therefore need specific treatment to help them. Professionals try to find resources to guide them and social skills training groups can provide this help. (C) 2012 Published by Elsevier Masson SAS. C1 Hop Robert Debre, Serv Pr Mouren, F-75019 Paris, France. RP Cuny, F (reprint author), Hop Robert Debre, Serv Pr Mouren, 48 Blvd Serurier, F-75019 Paris, France. EM francine_cuny@hotmail.com CR Cuny F, 2010, AIDES COMMUNICATION Liberman RP, 2005, ENTRAINEMENT HABILET Michelson L., 1983, SOCIAL SKILLS ASSESS Segar M, 1998, FAIRE FACE GUIDE SUR NR 4 TC 0 Z9 0 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0003-4487 J9 ANN MED-PSYCHOL JI Ann. Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 482 EP 484 DI 10.1016/j.amp.2012.06.017 PG 3 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000012 ER PT J AU Recordon-Gaboriaud, S AF Recordon-Gaboriaud, Severine TI Clinical evaluation of adults with autism and associated with an intellectual deficiency: The need for a personalised accompaniment SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Adult aged; Autism; Behavioural problems diagnostic; Functional evaluation; Individualised project ID INDIVIDUALS; DISORDERS; SPECTRUM AB The recognition of specific needs for adults with autism and other pervasive developmental disorders regarding diagnostics and functional evaluations have allowed the High Authority on Health care (HAS), in July 2011, to establish recommendations on good professional practices. These recommendations legitimise the importance of regular evaluations. Consequently, patient's accompaniment and life projects can be thought out realistically according to their actual resources in terms of autonomy, communication, participation in social and community life. However, when autism is associated to an intellectual deficiency, particularly in severe cases, these patients need pluridisciplinary teams to adjust the evaluation framework. Thus, it also implies new thoughts on which tools and tests should be used to significantly link evaluation conclusions with the use of coordinated interventions with these patients. To obtain a rigorous framework in which to pass psychological tests, the diagnostic approach must be completed by the evaluation of a patient's functioning's. These tested patients must be able to put into perspective their strengths and specificities. In this endeavour, the recourse to adapted tools that help a situational or functional evaluation is necessary for pragmatic reasons as well as for the individualization of a educational and therapeutical support in their every day life. Several specific tools, adapted for adults with autism and covering different expertise's can be used during an evaluation. At the same time, tests concerning behavioural problems, when present and with pervasive components, can be conducted by using two descriptive and functional approaches. These approaches have a complementarity that is useful for a subtle exploration of problems encountered. It can also be an important element to help define and develop a support program for behaviours. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 ADAPEI 79, Residence Archipel, F-79500 St Martin Les Melle, France. RP Recordon-Gaboriaud, S (reprint author), ADAPEI 79, Residence Archipel, Maison Autisme,Route Mothe St Heray, F-79500 St Martin Les Melle, France. EM s.gaboriaud@adapei79.org CR American Psychiatric Association, 2004, DSM 4 TR MAN DIAGN S Barthelemy C., 2003, ECHELLE EVALUATION C Carter AS, 1998, J AUTISM DEV DISORD, V28, P287, DOI 10.1023/A:1026056518470 Gualteri CT, 2005, ADV PSYCHOL RES, V27, P183 Johnny L, 2007, J DEV PHYS DISABIL, V19, P557 L'Abbe Y., 2001, COMPORTEMENTS AGRESS LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Magerotte C, 2001, MANUEL PSYCHOL HANDI, P359 Magerotte G, 2001, QUALITE VIE PERSONNE Maurice P, 1988, ECHELLE QUEBECOISE C Mesibov G, 1997, PROFIL PSYCHOEDUCATI O'Neil E, 2008, EVALUATION FONCTIONN O'Neil R, 1989, POSITIVE BEHAV SUPPO O'Neil R, 1990, FUNCTIONAL ANAL PRAC O'Neil R. E., 1997, FUNCTIONAL ASSESSMEN Qureshi H, 1994, SEVER LEARNING DISAB Recordon-Gaboriaud S, 2009, PRATIQUES SANTE MENT Recordon-Gaboriaud S, 2009, B SCI ARAPI Recordon-Gaboriaud S, 2010, B SCI ARAPI Recordon-Gaboriaud S, 2012, ECHELLE OBSERVATION Recordon-Gaboriaud S, 2008, B SCI ARAPI Recordon-Gaboriaud S, 2008, B SCI ARAPI Recordon-Gaboriaud S., 2007, THESIS U PARIS DESCA Recordon-Gaboriaud S, 2004, ACT C ADAPEI79 AD AV Reichler R, 1970, PSYCHOEDUCATIONNAL P Roge B., 2000, TROUBLES COMPORTEMEN Rojahn J, 2005, ADV PSYCHOL RES, V27, P183 Schopler E, 1979, PSYCHOEDUCATIONAL PR Schopler E, 1985, AUTISM ADOLESCENTS A Schopler E, 1994, AUTISM COMMUN, V26, P44 Schopler E., 1997, PARENTS PROFESSIONNE, P191 Schopler E, 1994, PROFIL PSYCHOEDUCATI Schopler E, 1998, STRATEGIES ED AUTISM Schopler E, 1980, TEACHING STRATEGIES Seltzer MM, 2003, J AUTISM DEV DISORD, V33, P565, DOI 10.1023/B:JADD.0000005995.02453.0b Sparrow S, 1984, VINELAND ADAPTATIVE Unapei, 2007, AUT EST ON AUJ ET CO Willaye E, 2005, EFI EVALUATION COMPE Willaye E, 2008, EVALUATION INTERVENT Willaye E, 2003, DEFICIENCE INTELLECT, P245 World Health Organization, 1993, CIM 10 ICD 10 INT CL NR 42 TC 0 Z9 0 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0003-4487 J9 ANN MED-PSYCHOL JI Ann. Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 485 EP 490 DI 10.1016/j.amp.2012.08.003 PG 6 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000014 ER PT J AU Brunod, R AF Brunod, Regis TI Autism Resources Center for Paris and suburbs area (CRAIF) SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism; Counseling; Education; Information; Resources Center AB Paris area is a complex urban area where 12 million people are living. This complexity is also encountered by the parents of children or the adults with autism or others Pervasive Developmental Disorders. More specifically it could be difficult for them to get a diagnosis or to find the right way to get measures really appropriate to their situations. To help them a specific structure called "Centre de Ressources Autisme Ile-de-France" (CRAIF, Center for Resources in Autism, Paris Area) was created in 2004. Several professionals (librarian, social worker, psychologist, doctor, management secretary and manager) try to give information or advice in various manners (phone, mail, e-mail, visiting...) to the people (families or professionals) searching help. In this paper we report the various missions of this institution and the way its professionals try to answer. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 CRAIF, F-75012 Paris, France. RP Brunod, R (reprint author), CRAIF, 27 Rue Rambouillet, F-75012 Paris, France. EM r.brunod@craif.org NR 0 TC 0 Z9 0 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0003-4487 J9 ANN MED-PSYCHOL JI Ann. Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 491 EP 493 DI 10.1016/j.amp.2012.08.002 PG 3 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000015 ER PT J AU Murad, A Fritsch, A Lecomte, F Stojanovic, J Haegele, M AF Murad, Ayman Fritsch, Aurelie Lecomte, Florence Stojanovic, Jeanne Haegele, Marie TI Anger management in adult people with autism spectrum disorders SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Aggressive behavior; Anger management; Autism; Autism spectrum disorders; Mental retardation; Pervasive developmental disorders AB Anger-management programs based on cognitive-behavioral conceptualization of anger have been successfully used in different types of populations. In this paper, we describe a program adapted to adult people with autism spectrum disorders and mental retardation. The program is implemented in a day-care unit. Ten patients are divided into three groups, depending on their specific difficulties. Cognitive-behavioral techniques have been adapted to be understood and practiced by patients. Visual formats, repetition, and imitation are examples of strategies that help people with autism and mental retardation identify emotions and cope with excessive anger. We also discuss evaluation of this type of therapy. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 [Murad, Ayman; Fritsch, Aurelie; Lecomte, Florence; Stojanovic, Jeanne; Haegele, Marie] Espace Autismes 68 Ctr Hosp Rouffach, F-68000 Colmar, France. RP Murad, A (reprint author), Espace Autismes 68 Ctr Hosp Rouffach, 13 Rue Charles Sandherr, F-68000 Colmar, France. EM a.murad@ch-rouffach.fr CR American Psychiatric Association, 2005, DSM 4 TR MAN DIAGN S [Anonymous], 1992, CLASS INT TROUBL MEN Fritsch A, 2009, ANN MED-PSYCHOL, V167, P299, DOI 10.1016/j.amp.2009.02.005 Galdin M, 2011, REV FRANCOPHONE DEFI, V22, P112 Novaco R.W., 1975, ANGER CONTROL DEV EV Sofronoff K, 2007, J AUTISM DEV DISORD, V37, P1203, DOI 10.1007/s10803-006-0262-3 Taylor JL, 2005, ANGER TREATMENT FOR PEOPLE WITH DEVELOPMENTAL DISABILITIES: A THEORY, EVIDENCE AND MANUAL BASED APPROACH, P1, DOI 10.1002/9780470713631 NR 7 TC 1 Z9 1 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0003-4487 J9 ANN MED-PSYCHOL JI Ann. Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 494 EP 496 DI 10.1016/j.amp.2012.06.014 PG 3 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000016 ER PT J AU Connan, A Haegele, M Wittner, G Murad, A AF Connan, Aurelie Haegele, Marie Wittner, Guy Murad, Ayman TI A mobile team for adult people with autism spectrum disorders SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism; Autism spectrum disorder; Behavior disorders; Mobile team; Pervasive developmental disorders AB A mobile team dedicated to adult people with autism was created in the Alsace region (France) in 2009. It intervenes in the patient's everyday environment in conjunction with the patient's family or the medical staff in order to get a better view of the various environmental factors that may have an influence on the patient's difficulties. The team's staff has been trained to perform functional analysis of behavior disorders as well as to use specific tools intended to facilitate communication in autism. The mobile team offers help to patients, their families, and professionals caring for them. Three main missions have been assigned to this facility: intervention in case of behavior disorders, implementation of special strategies to help people with autism communicate or organize their time and space, and support for patients when they are hospitalized and when they have to undergo medical examinations. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 [Connan, Aurelie; Haegele, Marie; Wittner, Guy; Murad, Ayman] Espace Autismes 68 Ctr Hosp Rouffach, F-68000 Colmar, France. RP Connan, A (reprint author), Espace Autismes 68 Ctr Hosp Rouffach, 13 Rue Charles Sandherr, F-68000 Colmar, France. EM equipemob.autisme@ch-rouffach.fr CR Constant J, 2002, CARNET PSY, V7, P28 Guastalli H, 2004, EMPAN, V2, P93 O'Neill RE, 2008, EVALUATION FONCTIONN Schopler E, 1997, PROFIL PSYCHOEDUCATI Treese Daquin C, 2009, SESSAD AUTISME ACCOM Willaye E, 2008, EVALUATION INTERVENT Willaye E, 2005, EVALUATION COMPETENC NR 7 TC 0 Z9 0 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0003-4487 J9 ANN MED-PSYCHOL JI Ann. Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 497 EP 501 DI 10.1016/j.amp.2012.06.016 PG 5 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000018 ER PT J AU Sauvage, D AF Sauvage, Dominique TI Autism: A short story of nosology SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism; Classifications; Nosography; Pervasive developmental disorders ID DISORDERS AB Kanner (1943) and Asperger (1944) have given the name of autism to the mental disorder formerly called idiotism and later psychoses or sometimes childhood schizophrenia. These authors bring to the disorder a better definition and establish its very early beginning during infancy. Kanner considers it belongs to the field of the psychoses and discusses its relation to schizophrenia. His report introduces two strong and controversal subjects: firstly about the intelligence of autistic people and secondly the typology of their families. Asperger gives more importance to the mental development and does not mention pejorative familial caracteristics. He also noticed the good or exceptional capacities of some cases by citing the observations of four of them. This is the reason his name is associated today with the less severe forms of the syndrome. During the 19th century, psychiatrists had begun to develop an interest in the classification of infantile psychoses and Seguin - formerly a teacher of children with special needs - gave an illustration of it with his study of the Idiots (annex). But, few authors described the mental diseases of the child as distinct from those of the adult. For example, Kraepelin and Bleuler who mention some cases beginning during childhood, do not treat infantile mental troubles as such and it will be a long time before early psychoses become the subjects of specific research. During the years between 1940 and 1960, there was a revival of interest in autism due to the commonality of symptoms linking it to the most severe cases of affective deprivation in studies of the mother-child relationship. A comparison which leads some influential authors to confuse autism with the effects of this severe deficiency, going as far as to attribute it to disturbed mothering, at a subconcious level, as there is no clear maternal inadequacy. The medical approach is completely different. Developmental disorders cannot be explained as the consequence of unfavourable life experiences and more and more facts support a neurobiological etiology. Autism is considered as a group of various disorders having a common phenotype of Pervasive Developmental Desorder (PDD). DSM and more recently CIM are in phase with this new approach. They enlarge the field of the PDD, as the result of which there is a change in the reported prevalence. These approaches are not very welcome in France as our country has developed a "Classification francaise" for child and adolescent mental disorders where the concept of psychosis is kept including bordeline states. Its purpose is to support different ways of psychopathological organisation and many French psychiatrists reserve the diagnostic of autism to a limited number of clinical cases. New versions in 2002 and 2010 tend to be better aligned with the international classifications but do not resolve the lack of agreeement according to the understanding of the etiologies and disorders due to a position where the nosographic debate is subordinated to more confusing psychopathologic considerations. For the future, a "double-diagnostic" for each case may be used (its etiology, its phenotype PDD) together with an increased attention to the dimensional approach of each individual profile, which has become possible as a result of advances in clinical methods. (C) 2012 Elsevier Masson SAS. All rights reserved. EM domsauvage@wanadoo.fr CR Bettelheim B, 1950, LOVE IS NOT ENOUGH Brauner A, 1986, ENFANT DEREEL Bursztejn C, 2011, ANN MED-PSYCHOL, V169, P256, DOI 10.1016/j.amp.2011.03.011 DSM-5, 2010, LANCET, V276, P390 Hochmann J, 2008, AUTISME Hochmann J, 1974, TRAITEMENT LONG COUR, P401 Houzel D, 1994, AUTISME CINQUANTE AN, P69 Kanner L, 1945, CHILD PSYCHIAT, P17 Lame T, 1990, J INT MED, V157, P46 Lenoir P, 2009, ENCEPHALE, V35, P36, DOI 10.1016/j.encep.2007.12.011 Levy SE, 2009, LANCET, V374, P1627, DOI 10.1016/S0140-6736(09)61376-3 Mac Milian MB, 1960, AM J PSYCHIAT, V116, P1093 Seguin E, 1997, COMITE HIST SECURITE, V22, P99 Skuse D, 2004, J AM ACAD CHILD PSY, V43, P548, DOI 10.1097/00004583-200405000-00008 NR 14 TC 0 Z9 0 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0003-4487 J9 ANN MED-PSYCHOL JI Ann. Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 510 EP 516 DI 10.1016/j.amp.2012.06.018 PG 7 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000020 ER PT J AU Cohen, D AF Cohen, David TI Recent controversies in Autism Spectrum Disorder SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism; Controversies; Early diagnosis; Etiopathology; Prevalence ID DEVELOPMENTAL DISORDERS; RISK-FACTORS AB Autism is a clinical syndrome whose description so characteristic participated in the foundation of child psychiatry. Yet, it remains the syndrome of all mysteries and all controversies. The first controversy was taken up by the working group of DSM-V, for precisely the clinical definition and broadening of the spectrum of autism. Motivations of various kinds appear to justify the spectrum view. We will question them from research on Multiplex Developmental Disorder or disharmonies, since these are concepts at the border of the spectrum. A second controversy regards its origin, recognizing that current research emphasizes and revisits the genetic causes from paper to paper. Without ignoring the importance of genetic factors, we will explore the environmental factors involved and propose a developmental model based on probabilistic multifactor perspective better able to explain the possible increase in prevalence. This is the third a controversy. Are we confronted to a real increase in the prevalence of autism spectrum disorders? Is it only a broader definition and a more systematic tracking of cases? Yet, another controversy regards the age at which the diagnosis of autism can be performed early. We will discuss this point from research focusing on the parent-infant early interaction and show that parents of infants, who will later develop autism, are significantly more often actively seeking answers from their baby, as young as 6 months. Finally, we will conclude with the controversy regarding therapeutic approaches and the methods to be recommended. If we recognize that only behavioral or educational methods have been assessed in controlled studies, it appears a consensus to promote intensive care at the earliest possible age, in a report for one to one, with maximum integration mainstream and involving parents actively. (C) 2012 Published by Elsevier Masson SAS. C1 [Cohen, David] Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Serv Psychiat Enfant & Adolescent, F-75013 Paris, France. [Cohen, David] Univ Paris 06, Inst Syst Intelligents & Robot, CNRS UMR 7222, F-75005 Paris, France. RP Cohen, D (reprint author), Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Serv Psychiat Enfant & Adolescent, 47 Blvd Hop, F-75013 Paris, France. EM david.cohen@psl.aphp.fr CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346 Cohen D, 2005, J AUTISM DEV DISORD, V35, P103, DOI 10.1007/s10803-004-1038-2 Cohen D. 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Med.-Psychol. PD SEP PY 2012 VL 170 IS 7 BP 517 EP 525 DI 10.1016/j.amp.2012.06.019 PG 9 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 025KE UT WOS:000310187000021 ER PT J AU Burstyn, I Lee, B Gidaya, NB Yudell, M AF Burstyn, Igor Lee, Brian Gidaya, Nicole B. Yudell, Michael TI Presentation of Study Results: The Authors' Responsibility SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Letter ID AUTISM SPECTRUM DISORDERS; SOCIOECONOMIC-STATUS; MATERNAL SMOKING; PREVALENCE; PREGNANCY C1 [Burstyn, Igor; Lee, Brian; Gidaya, Nicole B.; Yudell, Michael] Drexel Univ, Philadelphia, PA 19104 USA. RP Burstyn, I (reprint author), Drexel Univ, Philadelphia, PA 19104 USA. EM igor.burstyn@drexel.edu CR Adam T, 2011, MEASUREMENT NEUTRINO [Anonymous], 2012, UWM NEWS Bodnar LM, 2010, OBESITY, V18, P2184, DOI 10.1038/oby.2010.25 Goodwin J, 2012, PRENATAL SMOKING LIN Jurek AM, 2006, EUR J EPIDEMIOL, V21, P871, DOI 10.1007/s10654-006-9083-0 Kalkbrenner AE, 2012, ENVIRON HEALTH PERSP, V120, P1042, DOI 10.1289/ehp.1104556 Kharrazi M, 1999, PUBLIC HEALTH REP, V114, P60, DOI 10.1093/phr/114.1.60 King MD, 2011, AM SOCIOL REV, V76, P320, DOI 10.1177/0003122411399389 MacLehose RF, 2012, EPIDEMIOLOGY, V23, P151, DOI 10.1097/EDE.0b013e31823b539c Palmer J, 2011, SPEED OF LIGHT RESUL Rai D, 2012, J AM ACAD CHILD PSY, V51, P467, DOI 10.1016/j.jaac.2012.02.012 NR 11 TC 1 Z9 1 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD SEP PY 2012 VL 120 IS 9 BP A343 EP A344 DI 10.1289/ehp.1205556 PG 2 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA 005YV UT WOS:000308786900004 PM 23487836 ER PT J AU Arlt, MF Rajendran, S Birkeland, SR Wilson, TE Glover, TW AF Arlt, Martin F. Rajendran, Sountharia Birkeland, Shanda R. Wilson, Thomas E. Glover, Thomas W. TI De Novo CNV Formation in Mouse Embryonic Stem Cells Occurs in the Absence of Xrcc4-Dependent Nonhomologous End Joining SO PLOS GENETICS LA English DT Article ID COPY-NUMBER VARIATION; DOUBLE-STRAND BREAKS; CHROMOSOMAL TRANSLOCATION FORMATION; AUTISM SPECTRUM DISORDER; HUMAN GENOME; REPLICATIVE STRESS; DORMANT ORIGINS; EXCESS MCM2-7; FRAGILE SITES; FINE-SCALE AB Spontaneous copy number variant (CNV) mutations are an important factor in genomic structural variation, genomic disorders, and cancer. A major class of CNVs, termed nonrecurrent CNVs, is thought to arise by nonhomologous DNA repair mechanisms due to the presence of short microhomologies, blunt ends, or short insertions at junctions of normal and de novo pathogenic CNVs, features recapitulated in experimental systems in which CNVs are induced by exogenous replication stress. To test whether the canonical nonhomologous end joining (NHEJ) pathway of double-strand break (DSB) repair is involved in the formation of this class of CNVs, chromosome integrity was monitored in NHEJ-deficient Xrcc4(-/-) mouse embryonic stem (ES) cells following treatment with low doses of aphidicolin, a DNA replicative polymerase inhibitor. Mouse ES cells exhibited replication stress-induced CNV formation in the same manner as human fibroblasts, including the existence of syntenic hotspot regions, such as in the Auts2 and Wwox loci. The frequency and location of spontaneous and aphidicolin-induced CNV formation were not altered by loss of Xrcc4, as would be expected if canonical NHEJ were the predominant pathway of CNV formation. Moreover, de novo CNV junctions displayed a typical pattern of microhomology and blunt end use that did not change in the absence of Xrcc4. A number of complex CNVs were detected in both wild-type and Xrcc4(-/-) cells, including an example of a catastrophic, chromothripsis event. These results establish that nonrecurrent CNVs can be, and frequently are, formed by mechanisms other than Xrcc4-dependent NHEJ. C1 [Arlt, Martin F.; Rajendran, Sountharia; Wilson, Thomas E.; Glover, Thomas W.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA. [Birkeland, Shanda R.; Wilson, Thomas E.] Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA. RP Arlt, MF (reprint author), Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA. EM wilsonte@umich.edu; glover@umich.edu FU March of Dimes Foundation; NIH/NCI [R01-CA102563] FX This work was supported by a March of Dimes Foundation research grant to TWG (http://www.marchofdimes.com/research/researchgrants.html) and NIH/NCI grant R01-CA102563 to TEW (http://www3.cancer.gov/admin/gab/). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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PD SEP PY 2012 VL 8 IS 9 AR e1002981 DI 10.1371/journal.pgen.1002981 PG 12 WC Genetics & Heredity SC Genetics & Heredity GA 020NK UT WOS:000309817900044 PM 23028374 ER PT J AU Khanna, R Jariwala, K AF Khanna, Rahul Jariwala, Krutika TI Awareness and knowledge of autism among pharmacists SO RESEARCH IN SOCIAL & ADMINISTRATIVE PHARMACY LA English DT Article DE Pharmacists; Autism; Awareness; Knowledge ID PSYCHOTROPIC MEDICATION USE; SPECTRUM DISORDERS; RUBELLA VACCINE; UNITED-STATES; RESPONSE RATE; MAIL SURVEYS; CHILDREN; TIME; MEASLES; MUMPS AB Background: In the past few decades, the prevalence of autism has increased tremendously in the United States. The prevalence of autism is now higher than the combined prevalence of juvenile diabetes, pediatric cancer, and pediatric AIDS. As health care professionals with a high visibility in a community, pharmacists are likely to encounter more and more families having a child affected by this disorder. Objectives: The purpose of this study was to assess pharmacists' awareness and knowledge of autism. The study aimed to assess pharmacists' familiarity with autism symptoms, treatment medications, and community resources devoted to this disorder. Further, pharmacists' knowledge of common myths associated with autism, etiology, prognosis, and treatment were assessed. Methods: Using a cross-sectional design, an online survey of pharmacists registered in the state of Mississippi (MS) was conducted, using the Qualtrics software program. Descriptive analysis of study items was conducted. Results: A total of 147 usable responses (5.8%) were received. The results indicated gaps in pharmacists' awareness and knowledge of autism. Approximately, 23% of pharmacists did not know that autism is a developmental disorder, and 32% did not believe that genetics has a major role in autism etiology. More than 18% believed that vaccines can cause autism. Most (> 90%) felt that they could benefit from autism continuing education (CE). Conclusion: Policy makers and autism agencies should consider providing educational interventions or CE programs to increase pharmacists' awareness and knowledge of autism. (C) 2012 Elsevier Inc. All rights reserved. C1 [Khanna, Rahul; Jariwala, Krutika] Univ Mississippi, Sch Pharm, Dept Pharm Adm, University, MS 38677 USA. RP Khanna, R (reprint author), Univ Mississippi, Sch Pharm, Dept Pharm Adm, Faser Hall,Room 236,POB 1848, University, MS 38677 USA. 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PD SEP-OCT PY 2012 VL 8 IS 5 BP 464 EP 471 DI 10.1016/j.sapharm.2011.11.002 PG 8 WC Public, Environmental & Occupational Health; Pharmacology & Pharmacy SC Public, Environmental & Occupational Health; Pharmacology & Pharmacy GA 017YP UT WOS:000309627400012 PM 22222344 ER PT J AU Langlitz, N AF Langlitz, Nicolas TI Autism: Pioneers, parents and the proliferation of a diagnosis SO BIOSOCIETIES LA English DT Editorial Material C1 New Sch Social Res, Dept Anthropol, New York, NY 10011 USA. RP Langlitz, N (reprint author), New Sch Social Res, Dept Anthropol, New York, NY 10011 USA. EM LanglitN@newschool.edu CR Lakoff A, 2012, PUBLIC CULTURE, V24, P217, DOI 10.1215/08992363-1443610 Hacking I., 2007, P BRIT ACAD, V151, P285, DOI DOI 10.5871/BACAD/9780197264249.003.0010 LANGLITZ N, AUSTISM PIONEERS PAR NR 3 TC 0 Z9 0 PU PALGRAVE MACMILLAN LTD PI BASINGSTOKE PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND SN 1745-8552 J9 BIOSOCIETIES JI BioSocieties PD SEP PY 2012 VL 7 IS 3 BP 322 EP 323 DI 10.1057/biosoc.2012.16 PG 2 WC Social Sciences, Biomedical SC Biomedical Social Sciences GA 017UK UT WOS:000309616300007 ER PT J AU Hacking, I AF Hacking, Ian TI Understanding Autism: Parents, Doctors, and the History of a Disorder SO BIOSOCIETIES LA English DT Book Review C1 [Hacking, Ian] Coll France, F-75231 Paris, France. [Hacking, Ian] Univ Toronto, Toronto, ON M5S 1A1, Canada. RP Hacking, I (reprint author), Coll France, F-75231 Paris, France. CR SILVERMAN C, 2010, UNDERSTANDING AUTISM NR 1 TC 0 Z9 0 PU PALGRAVE MACMILLAN LTD PI BASINGSTOKE PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND SN 1745-8552 J9 BIOSOCIETIES JI BioSocieties PD SEP PY 2012 VL 7 IS 3 BP 323 EP 326 PG 4 WC Social Sciences, Biomedical SC Biomedical Social Sciences GA 017UK UT WOS:000309616300009 ER PT J AU Hacking, I AF Hacking, Ian TI A History of Autism: Conversations with the Pioneers SO BIOSOCIETIES LA English DT Book Review C1 [Hacking, Ian] Coll France, F-75231 Paris, France. [Hacking, Ian] Univ Toronto, Toronto, ON M5S 1A1, Canada. RP Hacking, I (reprint author), Coll France, F-75231 Paris, France. CR Feinstein Adam, 2010, HIST AUTISM CONVERSA NR 1 TC 0 Z9 0 PU PALGRAVE MACMILLAN LTD PI BASINGSTOKE PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND SN 1745-8552 J9 BIOSOCIETIES JI BioSocieties PD SEP PY 2012 VL 7 IS 3 BP 323 EP 326 PG 4 WC Social Sciences, Biomedical SC Biomedical Social Sciences GA 017UK UT WOS:000309616300008 ER PT J AU Epstein, S AF Epstein, Steven TI The Autism Matrix SO BIOSOCIETIES LA English DT Book Review C1 [Epstein, Steven] Northwestern Univ, Dept Sociol, Evanston, IL 60208 USA. RP Epstein, S (reprint author), Northwestern Univ, Dept Sociol, Evanston, IL 60208 USA. CR Epstein Steven, 1996, IMPURE SCI AIDS ACTI Eyal G., 2010, AUTISM MATRIX Hacking Ian, 1986, RECONSTRUCTING INDIV, P222 Ong-Dean Colin, 2009, DISTINGUISHING DISAB NR 4 TC 0 Z9 0 PU PALGRAVE MACMILLAN LTD PI BASINGSTOKE PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND SN 1745-8552 J9 BIOSOCIETIES JI BioSocieties PD SEP PY 2012 VL 7 IS 3 BP 327 EP 329 DI 10.1057/biosoc.2012.15 PG 3 WC Social Sciences, Biomedical SC Biomedical Social Sciences GA 017UK UT WOS:000309616300010 ER PT J AU Timmermans, S AF Timmermans, Stefan TI The Autism Matrix SO BIOSOCIETIES LA English DT Book Review C1 [Timmermans, Stefan] Univ Calif Los Angeles, Dept Sociol, Los Angeles, CA 90024 USA. RP Timmermans, S (reprint author), Univ Calif Los Angeles, Dept Sociol, Los Angeles, CA 90024 USA. CR Berrington L, 2012, DAILY BEAST Callon M, 2008, SCI TECHNOL HUM VAL, V33, P230, DOI 10.1177/0162243907311264 Epstein Steven, 1996, IMPURE SCI AIDS ACTI Evans R, 2007, RETHINKING EXPERTISE Eyal G., 2010, AUTISM MATRIX Hacking Ian, 1986, RECONSTRUCTING INDIV, P222 Hacking Ian, 1999, SOCIAL CONSTRUCTION Lakoff A, 2005, CAMB STUD SOC LIFE S, P1, DOI 10.2277/ 0521546664 NR 8 TC 0 Z9 0 PU PALGRAVE MACMILLAN LTD PI BASINGSTOKE PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND SN 1745-8552 J9 BIOSOCIETIES JI BioSocieties PD SEP PY 2012 VL 7 IS 3 BP 329 EP 331 DI 10.1057/biosoc.2012.17 PG 3 WC Social Sciences, Biomedical SC Biomedical Social Sciences GA 017UK UT WOS:000309616300011 ER PT J AU Lakoff, A AF Lakoff, Andrew TI The Autism Matrix SO BIOSOCIETIES LA English DT Book Review C1 [Lakoff, Andrew] Univ So Calif, Dept Anthropol, Los Angeles, CA 90089 USA. [Lakoff, Andrew] Univ So Calif, Dept Sociol, Los Angeles, CA 90089 USA. [Lakoff, Andrew] Univ So Calif, Dept Commun, Los Angeles, CA 90089 USA. RP Lakoff, A (reprint author), Univ So Calif, Dept Anthropol, Los Angeles, CA 90089 USA. CR Carey Benedict, 2012, NY TIMES Eyal G., 2010, AUTISM MATRIX Hacking Ian, 1995, REWRITING SOUL MULTI Hacking Ian, 1999, SOCIAL CONSTRUCTION Lakoff A, 2000, J HIST BEHAV SCI, V36, P149, DOI 10.1002/(SICI)1520-6696(200021)36:2<149::AID-JHBS3>3.0.CO;2-9 Young A, 1996, HARMONY ILLUSIONS IN NR 6 TC 0 Z9 0 PU PALGRAVE MACMILLAN LTD PI BASINGSTOKE PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND SN 1745-8552 J9 BIOSOCIETIES JI BioSocieties PD SEP PY 2012 VL 7 IS 3 BP 331 EP 333 DI 10.1057/biosoc.2012.14 PG 3 WC Social Sciences, Biomedical SC Biomedical Social Sciences GA 017UK UT WOS:000309616300012 ER PT J AU Addison, LR Piazza, CC Patel, MR Bachmeyer, MH Rivas, KM Milnes, SM Oddo, J AF Addison, Laura R. Piazza, Cathleen C. Patel, Meeta R. Bachmeyer, Melanie H. Rivas, Kristi M. Milnes, Suzanne M. Oddo, Jackie TI A COMPARISON OF SENSORY INTEGRATIVE AND BEHAVIORAL THERAPIES AS TREATMENT FOR PEDIATRIC FEEDING DISORDERS SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE escape extinction; food refusal; food selectivity; feeding disorders; noncontingent reinforcement; pediatric feeding disorders; sensory integration ID INAPPROPRIATE MEALTIME BEHAVIOR; OCCUPATIONAL-THERAPY; FOOD REFUSAL; FUNCTIONAL-ANALYSIS; ESCAPE EXTINCTION; CHILDREN; INTERVENTIONS; REINFORCEMENT; AUTISM; DISABILITIES AB We compared the effects of escape extinction (EE) plus noncontingent reinforcement (NCR) with sensory integration therapy as treatment for the feeding problems of 2 children. Results indicated that EE plus NCR was more effective in increasing acceptance, decreasing inappropriate behavior, and increasing amount consumed relative to sensory integration for both children. The results are discussed in terms of the challenges of evaluating sensory-integration-based treatments, and the reasons why component analyses of multicomponent treatments like sensory integration are important. C1 [Piazza, Cathleen C.; Rivas, Kristi M.; Milnes, Suzanne M.] Univ Nebraska Med Ctr, Munroe Meyer Inst, Omaha, NE USA. [Addison, Laura R.] Addison Behav Resources, Camarillo, CA USA. [Patel, Meeta R.] Clin 4 Kidz, Sausalito, CA USA. [Oddo, Jackie] Atlanta Speech Sch, Atlanta, GA USA. RP Piazza, CC (reprint author), Univ Nebraska Med Ctr, Munroe Meyer Inst, Omaha, NE USA. 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Leaf, Ronald Courtemanche, Andrea B. Taubman, Mitchell McEachin, John Sheldon, Jan B. Sherman, James A. TI OBSERVATIONAL EFFECTS ON THE PREFERENCES OF CHILDREN WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; conditioned reinforcement; observational learning; preference; reinforcement ID RESPONSE-RESTRICTION ANALYSIS; ASPERGERS SYNDROME; CONDITIONED REINFORCEMENT AB Children with an autism spectrum disorder (ASD) may play with limited objects or toys, making it difficult for teachers to identify reinforcers to use in teaching new skills. The goal of this study was to alter children's preferences from highly preferred toys to toys that were originally less preferred using-an observational pairing procedure. Child participants observed a preferred adult playing with toys that were initially less preferred by the child. This intervention resulted in a shift in preference toward the item manipulated by the adult. Maintenance of the changed preference was idiosyncratic across participants. Results suggest a procedure for expanding the range of items that students with ASD will select. C1 [Leaf, Justin B.; Oppenheim-Leaf, Misty L.; Courtemanche, Andrea B.; Sheldon, Jan B.; Sherman, James A.] Univ Kansas, Lawrence, KS 66045 USA. [Leaf, Justin B.; Leaf, Ronald; Taubman, Mitchell; McEachin, John] Autism Partnership, Seal Beach, CA 90740 USA. RP Leaf, JB (reprint author), Autism Partnership, 200 Marina Dr, Seal Beach, CA 90740 USA. EM Jblautpar@aol.com CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT ARENSON SJ, 1976, J PSYCHOL, V94, P65 Bruzek JL, 2007, J APPL BEHAV ANAL, V40, P327, DOI 10.1901/jaba.2007.102-06 Duncker K, 1938, J ABNORM SOC PSYCH, V33, P489, DOI 10.1037/h0056660 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Greeri RD, 2008, J EXP ANAL BEHAV, V89, P15, DOI 10.1901/jeab.2008.89-15 Greer RD, 2006, INT J PSYCHOL, V41, P486, DOI 10.1080/00207590500492435 Hanley GP, 2003, J APPL BEHAV ANAL, V36, P47, DOI 10.1901/jaba.2003.36-47 Hanley GP, 2003, J APPL BEHAV ANAL, V36, P59, DOI 10.1901/jaba.2003.36-59 KERBESHIAN J, 1990, BRIT J PSYCHIAT, V156, P721, DOI 10.1192/bjp.156.5.721 Singer-Dudek J, 2011, J APPL BEHAV ANAL, V44, P421, DOI 10.1901/jaba.2011.44-421 SZATMARI P, 1989, DEV MED CHILD NEUROL, V31, P709 SZATMARI P, 1989, CAN J PSYCHIAT, V34, P554 SZATMARI P, 1989, J AUTISM DEV DISORD, V19, P213, DOI 10.1007/BF02211842 Tantam D., 1991, AUTISM ASPERGER SYND, P147, DOI 10.1017/CBO9780511526770.005 NR 15 TC 3 Z9 3 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 473 EP 483 DI 10.1901/jaba.2012.45-473 PG 11 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500002 PM 23060662 ER PT J AU Penrod, B Gardella, L Fernand, J AF Penrod, Becky Gardella, Laura Fernand, Jonathan TI AN EVALUATION OF A PROGRESSIVE HIGH-PROBABILITY INSTRUCTIONAL SEQUENCE COMBINED WITH LOW-PROBABILITY DEMAND FADING IN THE TREATMENT OF FOOD SELECTIVITY SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE food selectivity; noncompliance; high-p instructional sequence; demand fading ID ESCAPE EXTINCTION; REFUSAL AB Few studies have examined the effects of the high-probability instructional sequence in the treatment of food selectivity, and results of these studies have been mixed (e.g., Dawson et al., 2003; Patel et al., 2007). The present study extended previous research on the high-probability instructional sequence by combining this procedure with low-probability demand fading with 2 boys with autism (9 and 10 years old) who had a history of food selectivity and engaged in active food refusal behaviors when presented with novel foods. Response requirements were faded gradually from responses the child would tolerate (e.g., touching the food) to the final requirement of chewing and swallowing the food. The antecedent-based intervention was implemented in the absence of escape extinction and was effective in increasing food consumption for both participants. Possible mechanisms responsible for the effectiveness of the intervention are discussed along with directions for future research. C1 [Penrod, Becky] Calif State Univ Sacramento, Dept Psychol, Sacramento, CA 95819 USA. RP Penrod, B (reprint author), Calif State Univ Sacramento, Dept Psychol, 6000 J St, Sacramento, CA 95819 USA. EM penrodb@csus.edu CR Ahearn WH, 2001, BEHAV MODIF, V25, P385, DOI 10.1177/0145445501253002 Ahearn WH, 2001, J AUTISM DEV DISORD, V31, P505, DOI 10.1023/A:1012221026124 Bachmeyer Melanie H, 2009, Behav Anal Pract, V2, P43 BUDD KS, 1992, J PEDIATR PSYCHOL, V17, P81, DOI 10.1093/jpepsy/17.1.81 Dawson JE, 2003, J APPL BEHAV ANAL, V36, P105, DOI 10.1901/jaba.2003.36-105 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Freeman KA, 1998, J APPL BEHAV ANAL, V31, P691, DOI 10.1901/jaba.1998.31-691 Kern L, 1996, J APPL BEHAV ANAL, V29, P243, DOI 10.1901/jaba.1996.29-243 Mace CF, 1988, J APPL BEHAV ANAL, V21, P123 Najdowski AC, 2003, J APPL BEHAV ANAL, V36, P383, DOI 10.1901/jaba.2003.36-383 PACE GM, 1985, J APPL BEHAV ANAL, V18, P249, DOI 10.1901/jaba.1985.18-249 Patel M, 2007, BEHAV INTERVENT, V22, P305, DOI 10.1002/bin.251 Penrod B, 2010, BEHAV INTERVENT, V25, P207, DOI 10.1002/bin.307 NR 13 TC 0 Z9 0 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 527 EP 537 DI 10.1901/jaba.2012.45-527 PG 11 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500006 PM 23060666 ER PT J AU Marchese, NV Carr, JE LeBlanc, LA Rosati, TC Conroy, SA AF Marchese, Nancy V. Carr, James E. LeBlanc, Linda A. Rosati, Tiffany C. Conroy, Samantha A. TI THE EFFECTS OF THE QUESTION "WHAT IS THIS?" ON TACT-TRAINING OUTCOMES OF CHILDREN WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; language training; stimulus control; tacts; verbal behavior AB Tact training is a common element of many habilitative programs for individuals with developmental disabilities. A commonly recommended practice is to include a supplemental question (e.g., "What is this?") during training trials for tacts of objects. However, the supplemental question is not a defining feature of the tact relation, and prior research suggests that its inclusion might sometimes impede tact acquisition. The present study compared tact training with and without the supplemental question in terms of acquisition and maintenance. Two of 4 children with autism acquired tacts more efficiently in the object-only condition; the remaining 2 children acquired tacts more efficiently in the object + question condition. During maintenance tests in the absence of the supplemental question, all participants emitted tacts at end-of-training levels across conditions with no differential effect observed between training conditions. C1 [Carr, James E.; LeBlanc, Linda A.] Auburn Univ, Auburn, AL 36849 USA. RP LeBlanc, LA (reprint author), Trumpet Behav Hlth, 390 Union Blvd,Suite 300, Lakewood, CO 80228 USA. EM leblanc@tbh.com CR Braam S. J., 1991, ANAL VERBAL BEHAV, V9, P1 COLEMAN SL, 1974, J BEHAV THER EXP PSY, V5, P275, DOI 10.1016/0005-7916(74)90078-0 DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 Koehler LJ, 2005, J APPL BEHAV ANAL, V38, P469, DOI 10.1901/jaba.2005.102-04 Leaf R., 1999, WORK PROGR BEHAV MAN Lovaas O. I., 2003, TEACHING INDIVIDUALS PARTINGTON JW, 1994, J APPL BEHAV ANAL, V27, P733, DOI 10.1901/jaba.1994.27-733 Skinner B. F., 1957, VERBAL BEHAV Sundberg M. L., 2008, VERBAL BEHAV MILESTO Sundberg M L, 2000, Anal Verbal Behav, V17, P89 Sundberg M. L., 1998, TEACHING LANGUAGE CH Volkert VM, 2008, J APPL BEHAV ANAL, V41, P335, DOI 10.1901/jaba.2008.41-335 Williams G, 2006, J APPL BEHAV ANAL, V39, P233, DOI 10.1901/jaba.2006.175-04 Williams G., 1993, BEHAVIOROLOGY, V1, P31 NR 14 TC 1 Z9 1 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 539 EP 547 DI 10.1901/jaba.2012.45-539 PG 9 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500007 PM 23060667 ER PT J AU Love, JJ Miguel, CF Fernand, JK LaBrie, JK AF Love, Jessica J. Miguel, Caio F. Fernand, Jonathan K. LaBrie, Jillian K. TI THE EFFECTS OF MATCHED STIMULATION AND RESPONSE INTERRUPTION AND REDIRECTION ON VOCAL STEREOTYPY SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; matched stimulation; response interruption and redirection; vocal stereotypy ID AUTOMATIC REINFORCEMENT; DEVELOPMENTAL-DISABILITIES; ESTABLISHING OPERATION; CHALLENGING BEHAVIOR; AUTISM; REPLICATION; EXTINCTION; CHILDREN; BLOCKING; LEISURE AB Stereotypy has been classified as repetitive behavior that does not serve any apparent function. Two procedures that have been found to reduce rates of vocal stereotypy effectively arc response interruption and redirection (RIRD) and noncontingent access to matched stimulation (MS). The purpose of the current study was to evaluate the effects of RIRD alone, MS alone, and MS combined with RIRD. One participant's results suggested similar suppressive effects on vocal stereotypy across treatment conditions. For the second participant, a slightly greater suppression of stereotypy was associated with MS + RIRD. In addition, both participants emitted a greater frequency of appropriate vocalizations in conditions with RIRD. Data suggest that the addition of MS might facilitate the implementation of RIRD in applied settings. C1 [Miguel, Caio F.] Calif State Univ Sacramento, Dept Psychol, Sacramento, CA 95819 USA. RP Miguel, CF (reprint author), Calif State Univ Sacramento, Dept Psychol, 6000 J St, Sacramento, CA 95819 USA. EM miguelc@csus.edu CR Ahearn WH, 2005, J APPL BEHAV ANAL, V38, P247, DOI 10.1901/jaba.2005.36-04 Ahearn WH, 2007, J APPL BEHAV ANAL, V40, P263, DOI 10.1901/jaba.2007.30-06 Ahrens EN, 2011, J APPL BEHAV ANAL, V44, P95, DOI 10.1901/jaba.2011.44-95 American Psychiatric Association, 2005, DIAGN STAT MAN MENT Athens ES, 2008, J APPL BEHAV ANAL, V41, P291, DOI 10.1901/jaba.2008.41-291 DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 Duffy-Cassella M., 2011, J APPL BEHAV ANAL, V44, P169 DURAND VM, 1987, J APPL BEHAV ANAL, V20, P119, DOI 10.1901/jaba.1987.20-119 Falcomata TS, 2004, J APPL BEHAV ANAL, V37, P83, DOI 10.1901/jaba.2004.37-83 Fisher WW, 1998, J APPL BEHAV ANAL, V31, P513, DOI 10.1901/jaba.1998.31-513 Fisher WW, 1996, AM J MENT RETARD, V101, P15 HOLCOMBE A, 1994, TOP EARLY CHILD SPEC, V14, P119 IWATA BA, 1994, J APPL BEHAV ANAL, V27, P197, DOI 10.1901/jaba.1994.27-197 KOEGEL RL, 1972, J APPL BEHAV ANAL, V5, P381, DOI 10.1901/jaba.1972.5-381 Lanovaz MJ, 2009, BEHAV MODIF, V33, P682, DOI 10.1177/0145445509344972 Lerman DC, 1996, J APPL BEHAV ANAL, V29, P231, DOI 10.1901/jaba.1996.29-231 Lewis MH, 1998, MENT RETARD DEV D R, V4, P80, DOI 10.1002/(SICI)1098-2779(1998)4:2<80::AID-MRDD4>3.0.CO;2-0 Liu-Gitz L, 2010, BEHAV INTERVENT, V25, P77, DOI 10.1002/bin.297 Lovaas O. I., 1987, J APPL BEHAV ANAL, V20, P45 Matson JL, 1997, RES DEV DISABIL, V18, P471, DOI 10.1016/S0891-4222(97)00023-1 Michael J. L., 2003, CONCEPTS PRINCIPLES Miguel CF, 2009, J APPL BEHAV ANAL, V42, P883, DOI 10.1901/jaba.2009.42-883 Mudford OC, 2009, J APPL BEHAV ANAL, V42, P527, DOI 10.1901/jaba.2009.42-527 O'Reilly M, 2007, BEHAV INTERVENT, V22, P137, DOI 10.1002/bin.226 O'Reilly MF, 2008, RES DEV DISABIL, V29, P333, DOI 10.1016/j.ridd.2007.06.004 O'Reilly MF, 2006, J APPL BEHAV ANAL, V39, P239, DOI 10.1901/jaba.2006.160-04 Piazza CC, 2000, J APPL BEHAV ANAL, V33, P13, DOI 10.1901/jaba.2000.33-13 Piazza CC, 1998, J APPL BEHAV ANAL, V31, P165, DOI 10.1901/jaba.1998.31-165 Rapp JT, 2007, J APPL BEHAV ANAL, V40, P73, DOI 10.1901/jaba.2007.142-05 Rapp JT, 2006, J APPL BEHAV ANAL, V39, P137, DOI 10.1901/jaba.2006.37-05 REPP AC, 1980, J APPL BEHAV ANAL, V13, P333, DOI 10.1901/jaba.1980.13-333 Roscoe EM, 2008, J APPL BEHAV ANAL, V41, P351, DOI 10.1901/jaba.2008.41-351 Smith RG, 1999, J APPL BEHAV ANAL, V32, P367, DOI 10.1901/jaba.1999.32-367 Taylor BA, 2005, BEHAV INTERVENT, V20, P239, DOI 10.1002/bin.200 VOLLMER TR, 1994, RES DEV DISABIL, V15, P187, DOI 10.1016/0891-4222(94)90011-6 NR 35 TC 12 Z9 12 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 549 EP 564 DI 10.1901/jaba.2012.45-549 PG 16 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500008 PM 23060668 ER PT J AU Fragale, CL O'Reilly, MF Aguilar, J Pierce, N Lang, R Sigafoos, J Lancioni, G AF Fragale, Christina L. O'Reilly, Mark F. Aguilar, Jeannie Pierce, Nigel Lang, Russell Sigafoos, Jeff Lancioni, Giulio TI THE INFLUENCE OF MOTIVATING OPERATIONS ON GENERALIZATION PROBES OF SPECIFIC MANDS BY CHILDREN WITH AUTISM\ SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE mands; motivating operations; generalization; autism ID CHALLENGING BEHAVIOR; ESTABLISHING OPERATIONS; STEREOTYPY; STIMULI AB We investigated the influence of motivating operations on the generalization of newly taught mands across settings and communication partners for 3 children with autism. Two conditions were implemented prior to generalization probes. In the first condition, participants were given access to a preferred item until they rejected the item (i.e., abolishing operation). In the second condition, the item was not available to participants prior to generalization probes (i.e., establishing operation). The effects of these conditions on the generalization of newly taught mands were evaluated in a multielement design. Results indicated differentiated responding during generalization probes in which more manding with the target mand was observed following the presession no-access condition than in the presession access condition. These results support the consideration of motivating operations when assessing generalization of target mands to various untrained contexts. C1 [Fragale, Christina L.] Univ Texas Austin, Dept Special Educ, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA. [Lang, Russell] Texas State Univ San Marcos, San Marcos, TX USA. [Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand. [Lancioni, Giulio] Univ Bari, I-70121 Bari, Italy. RP Fragale, CL (reprint author), Univ Texas Austin, Dept Special Educ, Meadows Ctr Preventing Educ Risk, 1 Univ Stn,D5300, Austin, TX 78712 USA. EM tinafragale@gmail.com CR BAER DM, 1968, J APPL BEHAV ANAL, V1, P91, DOI 10.1901/jaba.1968.1-91 Chappell N, 2009, RES AUTISM SPECT DIS, V3, P660, DOI 10.1016/j.rasd.2009.01.002 Cuvo A. J., 2003, J BEHAV ED, V12, P77, DOI 10.1023/A:1022374406394 DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 Johnston J M, 1979, Behav Anal, V2, P1 Lang R, 2010, BEHAV MODIF, V34, P267, DOI 10.1177/0145445510370713 Langthorne P, 2007, BEHAV MODIF, V31, P466, DOI 10.1177/0145445506298424 Laraway S, 2003, J APPL BEHAV ANAL, V36, P407, DOI 10.1901/jaba.2003.36-407 McComas J, 2000, J APPL BEHAV ANAL, V33, P479, DOI 10.1901/jaba.2000.33-479 MICHAEL J, 1982, J EXP ANAL BEHAV, V37, P149, DOI 10.1901/jeab.1982.37-149 National Research Council, 2001, ED CHILDR AUT O'Reilly M., J APPL BEHA IN PRESS O'Reilly M, 2009, J APPL BEHAV ANAL, V42, P773, DOI 10.1901/jaba.2009.42-773 O'Reilly M, 2007, BEHAV INTERVENT, V22, P137, DOI 10.1002/bin.226 O'Reilly MF, 2008, RES DEV DISABIL, V29, P333, DOI 10.1016/j.ridd.2007.06.004 PELLECCHIA M., 2007, BEHAV ANAL TODAY, V8, P483 Reed DD, 2009, J DEV PHYS DISABIL, V21, P485, DOI 10.1007/s10882-009-9159-3 Rispoli M, 2011, J APPL BEHAV ANAL, V44, P187, DOI 10.1901/jaba.2011.44-187 Roantree CF, 2006, J APPL BEHAV ANAL, V39, P381, DOI 10.1901/jaba.2006.97-05 Schopler E., 1988, CHILDHOOD AUTISM RAT Scott J., 2000, STUDENTS AUTISM CHAR, P205 Shafer E., 1994, ANAL VERBAL BEHAV, V12, P53 Skinner B. F., 1957, VERBAL BEHAV STOKES TF, 1977, J APPL BEHAV ANAL, V10, P349, DOI 10.1901/jaba.1977.10-349 Sundberg M. L., 2002, ANAL VERBAL BEHAV, V18, P15 Sundberg ML, 2001, BEHAV MODIF, V25, P698, DOI 10.1177/0145445501255003 Taylor BA, 2005, RES DEV DISABIL, V26, P385, DOI 10.1016/j.ridd.2004.11.003 TAYLOR BA, 1995, J APPL BEHAV ANAL, V28, P3, DOI 10.1901/jaba.1995.28-3 NR 28 TC 2 Z9 2 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 565 EP 577 DI 10.1901/jaba.2012.45-565 PG 13 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500009 PM 23060669 ER PT J AU Roantree, CF Kennedy, CH AF Roantree, Christina F. Kennedy, Craig H. TI FUNCTIONAL ANALYSIS OF INAPPROPRIATE SOCIAL INTERACTIONS IN STUDENTS WITH ASPERGER'S SYNDROME SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism spectrum disorder; Asperger's syndrome; social skills; social interaction; functional analysis AB We analyzed the inappropriate social interactions of 3 students with Asperger's syndrome whose behavior was maintained by social positive reinforcement. We tested whether inappropriate social behavior was sensitive to social positive reinforcement contingencies and whether such contingencies could be reversed to increase the probability of socially appropriate responding. Our results show that social positive reinforcers can be identified for inappropriate social interactions and that appropriate social behaviors can be sensitive to reinforcement contingency reversals. C1 [Kennedy, Craig H.] Vanderbilt Univ, Peabody Coll, Nashville, TN 37212 USA. RP Kennedy, CH (reprint author), Vanderbilt Univ, Peabody Coll, Peabody Adm Bldg,Box 329, Nashville, TN 37212 USA. EM craig.kennedy@vanderbilt.edu CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Fombonne E, 2009, PEDIATR RES, V65, P591, DOI 10.1203/PDR.0b013e31819e7203 IWATA BA, 1994, J APPL BEHAV ANAL, V27, P197, DOI 10.1901/jaba.1994.27-197 Kennedy C, 2005, SINGLE CASE DESIGNS Kennedy C. H., 2004, INT HDB APPL RES INT, P297, DOI 10.1002/9780470713198.ch14 Klin A., 2005, HDB AUTISM PERVASIVE, V1, P88 McCarthy D., 1988, MATCHING LAW RES REV Rehfeldt RA, 2003, J APPL BEHAV ANAL, V36, P259, DOI 10.1901/jaba.2003.36-259 NR 8 TC 1 Z9 1 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 585 EP 591 DI 10.1901/jaba.2012.45-585 PG 7 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500011 PM 23060671 ER PT J AU Polick, AS Carr, JE Hanney, NM AF Polick, Amy S. Carr, James E. Hanney, Nicole M. TI A COMPARISON OF GENERAL AND DESCRIPTIVE PRAISE IN TEACHING INTRAVERBAL BEHAVIOR TO CHILDREN WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; behavior-specific praise; descriptive praise; intraverbals; praise; reinforcement; verbal behavior AB Descriptive praise has been recommended widely as an important teaching tactic for children with autism, despite the absence of published supporting evidence. We compared the effects of descriptive and general praise on the acquisition and maintenance of intraverbal skills with 2 children with autism. The results showed slight advantages of descriptive praise in teaching efficiency in the majority of comparisons; however, these effects dissipated over time. C1 [Polick, Amy S.] Florida State Univ, Panama City, FL 32405 USA. [Carr, James E.; Hanney, Nicole M.] Auburn Univ, Auburn, AL 36849 USA. RP Polick, AS (reprint author), Florida State Univ, 4750 Collegiate Dr, Panama City, FL 32405 USA. EM apolick@pc.fsu.edu CR Anderson S. R., 1996, BEHAV INTERVENTION Y, P181 BROPHY J, 1981, REV EDUC RES, V51, P5, DOI 10.3102/00346543051001005 Carr JE, 2000, J APPL BEHAV ANAL, V33, P353, DOI 10.1901/jaba.2000.33-353 Leaf R., 1999, WORK PROGR BEHAV MAN Reinke WM, 2007, BEHAV MODIF, V31, P247, DOI 10.1177/0145445506288967 Sindelar P. T., 1985, ED TREATMENT CHILDRE, V8, P67 Stevens C, 2011, RES AUTISM SPECT DIS, V5, P666, DOI 10.1016/j.rasd.2010.08.003 Sundberg M. L., 2008, VB MAPP VERBAL BEHAV Sutherland KS, 2000, J EMOT BEHAV DISORD, V8, P2, DOI 10.1177/106342660000800101 NR 9 TC 0 Z9 0 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 593 EP 599 DI 10.1901/jaba.2012.45-593 PG 7 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500012 PM 23060672 ER PT J AU Grannan, L Rehfeldt, RA AF Grannan, Leigh Rehfeldt, Ruth Anne TI EMERGENT INTRAVERBAL RESPONSES VIA TACT AND MATCH-TO-SAMPLE INSTRUCTION SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE verbal behavior; intraverbals; autism ID BEHAVIOR AB The present investigation evaluated the effectiveness of category tact and match-to-sample instruction in facilitating the emergence of intraverbal responses (i.e., naming several items belonging to a specific category) for 2 children with autism. Results demonstrated the emergence of untaught responses, suggesting an effective instructional protocol for establishing intraverbal responses without direct instruction. C1 [Rehfeldt, Ruth Anne] So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA. RP Rehfeldt, RA (reprint author), So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA. EM rehfeldt@siu.edu CR Barnes-Holmes D, 2000, BEHAV ANALYST, V23, P69 Carr J. E., 2005, J EARLY INTENSIVE BE, V2, P18 Goldsmith TR, 2007, RES AUTISM SPECT DIS, V1, P1, DOI 10.1016/j.rasd.2006.07.001 Horne PJ, 1996, J EXP ANAL BEHAV, V65, P185, DOI 10.1901/jeab.1996.65-185 LUCIANO MC, 1986, APPL RES MENT RETARD, V7, P1 Miguel Caio F, 2005, Anal Verbal Behav, V21, P27 Miguel C. F., 2009, DERIVED RELATIONAL R, P129 Petursdottir AI, 2008, J APPL BEHAV ANAL, V41, P53, DOI 10.1901/jaba.2008.41-53 Sautter Rachael A, 2006, Anal Verbal Behav, V22, P35 Skinner B. F., 1957, VERBAL BEHAV Sundberg M. L., 2008, VERBAL BEHAV MILESTO NR 11 TC 3 Z9 3 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 601 EP 605 DI 10.1901/jaba.2012.45-601 PG 5 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500013 PM 23060673 ER PT J AU Allison, J Wilder, DA Chong, I Lugo, A Pike, J Rudy, N AF Allison, Janelle Wilder, David A. Chong, Ivy Lugo, Ashley Pike, Jessica Rudy, Nikki TI A COMPARISON OF DIFFERENTIAL REINFORCEMENT AND NONCONTINGENT REINFORCEMENT TO TREAT FOOD SELECTIVITY IN A CHILD WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; differential reinforcement; escape extinction; food selectivity; noncontingent reinforcement ID ESCAPE EXTINCTION; REFUSAL AB We compared differential reinforcement plus escape extinction to noncontingent reinforcement plus escape extinction to treat food selectivity exhibited by a young child with autism. The interventions were equally effective for increasing bite acceptance and decreasing problem behaviors. However, a social validity measure suggested that noncontingent reinforcement was preferred by the child's caregiver. C1 [Allison, Janelle] Florida Inst Technol, Sch Psychol, Melbourne, FL 32901 USA. RP Allison, J (reprint author), Florida Inst Technol, Sch Psychol, 150 W Univ Blvd, Melbourne, FL 32901 USA. EM jallison2008@my.fit.edu; dawilder@fit.edu CR Bachmeyer MH, 2009, J APPL BEHAV ANAL, V42, P641, DOI 10.1901/jaba.2009.42-641 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Piazza CC, 2003, J APPL BEHAV ANAL, V36, P309, DOI 10.1901/jaba.2003.36-309 Reed GK, 2004, J APPL BEHAV ANAL, V37, P27, DOI 10.1901/jaba.2004.37-27 NR 4 TC 2 Z9 2 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 613 EP 617 DI 10.1901/jaba.2012.45-613 PG 5 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500015 PM 23060675 ER PT J AU Slocum, SK Miller, SJ Tiger, JH AF Slocum, Sarah K. Miller, Sarah J. Tiger, Jeffrey H. TI USING A BLOCKED-TRIALS PROCEDURE TO TEACH IDENTITY MATCHING TO A CHILD WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; blocked trials; children; conditional discrimination; identity matching ID MENTALLY-RETARDED ADULTS; CONDITIONAL DISCRIMINATION AB Children with autism may struggle in developing conditional discrimination repertoires. Saunders and Spradlin (1989, 1990, 1993) arranged "blocked" teaching trials in which they presented the same sample stimulus repeatedly across trials (in lieu of randomly alternating targets across trials) and then faded the number of trials in each block. We replicated the effects of this blocked-trials procedure in teaching identity matching to a child with autism and evaluated the necessity of fading. Arranging blocked trials facilitated the acquisition of identity matching, but fading the block size was not necessary to maintain discriminated performance. C1 [Tiger, Jeffrey H.] Univ Wisconsin, Dept Psychol, Milwaukee, WI 53201 USA. [Miller, Sarah J.] Louisiana State Univ, Baton Rouge, LA 70803 USA. [Slocum, Sarah K.] Univ Florida, Gainesville, FL 32611 USA. RP Tiger, JH (reprint author), Univ Wisconsin, Dept Psychol, 219 Garland, Milwaukee, WI 53201 USA. EM tiger@uwm.edu CR FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Green G., 2001, FOCUS AUTISM OTHER D, V16, P72, DOI 10.1177/108835760101600203 Maurice C., 1996, BEHAV INTERVENTION Y Perez-Gonzalez LA, 2002, AM J MENT RETARD, V107, P293, DOI 10.1352/0895-8017(2002)107<0293:MPTTCD>2.0.CO;2 SAUNDERS KJ, 1993, J EXP ANAL BEHAV, V60, P571, DOI 10.1901/jeab.1993.60-571 SAUNDERS KJ, 1989, J EXP ANAL BEHAV, V52, P1, DOI 10.1901/jeab.1989.52-1 SAUNDERS KJ, 1990, J EXP ANAL BEHAV, V54, P239, DOI 10.1901/jeab.1990.54-239 Sundberg M. L., 2008, VERBAL BEHAV MILESTO Williams G, 2005, J APPL BEHAV ANAL, V38, P555, DOI 10.1901/jaba.2005.65-04 NR 9 TC 0 Z9 0 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 619 EP 624 DI 10.1901/jaba.2012.45-619 PG 6 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500016 PM 23060677 ER PT J AU Keyl-Austin, AA Samaha, AL Bloom, SE Boyle, MA AF Keyl-Austin, Alice A. Samaha, Andrew L. Bloom, Sarah E. Boyle, Megan A. TI EFFECTS OF PREFERENCE AND REINFORCER VARIATION ON WITHIN-SESSION PATTERNS OF RESPONDING SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; preference assessment; behavioral economics; bridge study; marginal utility ID CHILDREN AB We examined correspondence between preference assessment outcome and within-session patterns of responding in one subject with autism. Responding maintained by a single highly preferred item resulted in a greater total number of responses, a slower decline in within-session response rates, and a greater proportion of short interresponse times compared to responding maintained by varied moderately preferred (MP) stimuli. Presenting varied MP stimuli within the same session produced greater levels and more sustained responding than presenting those same stimuli individually. C1 [Samaha, Andrew L.] Utah State Univ, Dept Psychol, Logan, UT 84322 USA. RP Samaha, AL (reprint author), Utah State Univ, Dept Psychol, 2810 Old Main Hill, Logan, UT 84322 USA. EM andrew.samaha@usu.edu RI Samaha, Andrew/F-4508-2010 CR Bohm-Bawerk E., 1891, POSITIVE THEORY CAPI DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 EGEL AL, 1980, J EXP CHILD PSYCHOL, V30, P455, DOI 10.1016/0022-0965(80)90050-8 EGEL AL, 1981, J APPL BEHAV ANAL, V14, P345, DOI 10.1901/jaba.1981.14-345 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Glover AC, 2008, J APPL BEHAV ANAL, V41, P163, DOI 10.1901/jaba.2008.41-163 Koehler LJ, 2005, J APPL BEHAV ANAL, V38, P469, DOI 10.1901/jaba.2005.102-04 Lee MSH, 2010, J APPL BEHAV ANAL, V43, P95, DOI 10.1901/jaba.2010.43-95 Murphy ES, 2003, J APPL BEHAV ANAL, V36, P421, DOI 10.1901/jaba.2003.36-421 North ST, 2005, J APPL BEHAV ANAL, V38, P317, DOI 10.1901/jaba.2005.93-04 Roane HS, 2001, J APPL BEHAV ANAL, V34, P145, DOI 10.1901/jaba.2001.34-145 Roscoe EM, 1999, J APPL BEHAV ANAL, V32, P479, DOI 10.1901/jaba.1999.32-479 NR 12 TC 1 Z9 1 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD FAL PY 2012 VL 45 IS 3 BP 637 EP 641 DI 10.1901/jaba.2012.45-637 PG 5 WC Psychology, Clinical SC Psychology GA 020BB UT WOS:000309782500019 PM 23060680 ER PT J AU Maisonneuve, H Floret, D AF Maisonneuve, Herve Floret, Daniel TI Wakefield's affair: 12 years of uncertainty whereas no link between autism and MMR vaccine has been proved SO PRESSE MEDICALE LA French DT Article ID STATEMENT; SECRETS; COLITIS; SEE AB In 1998, a Lancet paper described 12 cases of children with autism, and having been vaccinated (MMR) in the United Kingdom; medias presented the information to the lay public, stating that a link was possible. In 2004, The Lancet published letters responding to allegations against the paper. Later, it was established that no link existed between MMR and autism; few years and many publications were necessary to conclude to the absence of evidence. In 2010, the General Medical Council published a report against Dr Wakefield, first author of the 1998 paper, and showing that the children hospital records did not contain the evidence; hospital records differed from the published paper; the Lancet retracted the 1998 paper. In 2011, Brian Deer, a journalist, published the complete story in the BMJ: in 1996, Wakefield was approached by lawyers representing on anti-vaccine lobby, and they supported the Wakefield research. Dr Wakefield left England; in 2012 he works in Texas, USA, for anti-vaccine lobbies. C1 [Maisonneuve, Herve] Fac Med Paris Sud 11, Dept Sante Publ Evaluat & Informat Med, F-94277 Le Kremlin Bicetre, France. [Floret, Daniel] Univ Lyon 1, Hop Femme Mere Enfant, F-69677 Bron, France. RP Maisonneuve, H (reprint author), Fac Med Paris Sud 11, Dept Sante Publ Evaluat & Informat Med, 63 Rue Gabriel Peri, F-94277 Le Kremlin Bicetre, France. EM hervemaisonneuve@gmail.com CR [Anonymous], PIG AW [Anonymous], 2010, LANCET, V375, P445 [Anonymous], 2011, STUDENT BMJ [Anonymous], 2011, COMMUNICATION APR Bjarnason I, 2011, BMJ-BRIT MED J, V343, DOI 10.1136/bmj.d6979 Cunningham D, 2010, FACTS CASE A WAKEFIE Deer B, 2011, BRIT MED J, V343, DOI 10.1136/bmj.d6823 DEER B, 2011, BRIT MED J, V342, P136 Deer B, 2011, BRIT MED J, V342, P77 Deer B, 2011, BRIT MED J, V342, P200 Dyer C, 2012, BMJ, V344 Geboes K, 2011, BRIT MED J, V343, DOI 10.1136/bmj.d6985 General Medical Council, 2010, AJ WAK DET SER PROF Godlee F, 2011, BRIT MED J, V343, DOI 10.1136/bmj.d7284 Hodgson H, 2004, LANCET, V363, P824, DOI 10.1016/S0140-6736(04)15711-5 Horton R, 2004, LANCET, V363, P820, DOI 10.1016/S0140-6736(04)15699-7 Mnookin S., 2011, PANIC VIRUS TRUE STO Mursh S, 2004, LANCET, V363, P821 Sox HC, 2009, ANN INTERN MED, V151, P68 Wakefield A, 2004, LANCET, V363, P823, DOI 10.1016/S0140-6736(04)15710-3 Wakefield A. J., 2010, CALLOUS DISREGARD AU Wakefield A.J, 2010, CALLLOUS DISREGARD A Wakefield AJ, 1998, LANCET, V351, P637, DOI 10.1016/S0140-6736(97)11096-0 Walker-Smith J, 2004, LANCET, V363, P822, DOI 10.1016/S0140-6736(04)15709-7 NR 24 TC 1 Z9 1 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0755-4982 J9 PRESSE MED JI Presse Med. PD SEP PY 2012 VL 41 IS 9 BP 827 EP 834 DI 10.1016/j.lpm.2012.03.022 PN 1 PG 8 WC Medicine, General & Internal SC General & Internal Medicine GA 017UJ UT WOS:000309616200008 PM 22748860 ER PT J AU Kuorikoski, J Poyhonen, S AF Kuorikoski, Jaakko Poyhonen, Samuli TI Looping Kinds and Social Mechanisms SO SOCIOLOGICAL THEORY LA English DT Article DE looping effect; classification; social construction; middle-range theory; social mechanism ID NATURAL KINDS; MENTAL-DISORDERS; SELF-INTEREST; SCIENCES; AUTISM; ATTITUDES; ILLNESS; REALISM; STIGMA; PEOPLE AB Human behavior is not always independent of the ways in which humans are scientifically classified. That there are looping effects of human kinds has been used as an argument for the methodological separation of the natural and the human sciences and to justify social constructionist claims. 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Theor. PD SEP PY 2012 VL 30 IS 3 BP 187 EP 205 DI 10.1177/0735275112457911 PG 19 WC Sociology SC Sociology GA 019DN UT WOS:000309717400003 ER PT J AU Nikfarjam, H Moghimi, A Hosseini, M Mahdavi-Shahri, N Edalatmanesh, MA Vafaee-Bagheri, F AF Nikfarjam, H. Moghimi, A. Hosseini, M. Mahdavi-Shahri, N. Edalatmanesh, M. A. Vafaee-Bagheri, F. TI Exaggerated fear conditioning memory and increased amygdala cell density in the valproic acid animal model of autism SO EUROPEAN JOURNAL OF NEUROLOGY LA English DT Meeting Abstract CT 16th Congress of the European-Federation-of-Neurological-Societies (EFNS) CY SEP 08-11, 2012 CL Stockholm, SWEDEN SP European Federat Neurol Soc (EFNS) C1 [Nikfarjam, H.; Moghimi, A.; Mahdavi-Shahri, N.] Ferdowsi Univ Mashhad, Fac Sci, Dept Biol, Mashhad, Iran. [Hosseini, M.; Vafaee-Bagheri, F.] Mashhad Univ Med Sci, Sch Med, Neurosci Res Ctr, Mashhad, Iran. [Hosseini, M.; Vafaee-Bagheri, F.] Mashhad Univ Med Sci, Sch Med, Dept Physiol, Mashhad, Iran. [Edalatmanesh, M. A.] Islamic Azad Univ, Sci & Res Branch, Dept Physiol, Fars, Iran. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1351-5101 J9 EUR J NEUROL JI Eur. J. Neurol. PD SEP PY 2012 VL 19 SU 1 SI SI BP 531 EP 531 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 014FD UT WOS:000309359703129 ER PT J AU Brown, LS Jellison, JA AF Brown, Laura S. Jellison, Judith A. TI Music Research with Children and Youth with Disabilities and Typically Developing Peers: A Systematic Review SO JOURNAL OF MUSIC THERAPY LA English DT Review DE music; children; disability; inclusion ID WILLIAMS-SYNDROME; DEVELOPMENTAL-DISABILITIES; AESTHETIC EXPERIENCES; VISUAL IMPAIRMENTS; YOUNG-CHILDREN; STUDENTS; THERAPY; AUTISM; ADOLESCENTS; PARTICIPATION AB Background: Systematic reviews of research provide pertinent information to both practitioners and researchers. While there are several recent reviews of music research and children with specific disabilities (primarily autism), there is no current review of music research with children with a wide variety of disabilities. Objective: The aim of the current study is to identify and systematically review music research with children and youth published in peer reviewed journals for the years 1999 through 2009. Research questions focused on participant characteristics; research purposes, methodologies, and findings; as well as the presence of ideas from special education policies, and practices. We also asked how results have changed from those from an earlier review (Jellison, 2000). Methods: Using computer and hand-searches, we identified 45 articles that met our criteria for inclusion. Once identified, through a process of consensus we analyzed articles based on criteria, categories, and codes used in the earlier review. Additionally we analyzed measurement instruments and effectiveness of interventions as reported by the authors. Results: Primary findings show a large majority of studies were experimental with most reporting effective or partially effective interventions, particularly for social variables. Compared to the earlier review, increases were found for participants with autism and for reports including ideas from special education. Percentages of articles measuring generalization and examining high-incident disability populations (specific learning disabilities) were low. Conclusions: The findings from this review and comparisons to the earlier review reveal important implications for practices with children with autism and preparation of researchers to design and conduct studies in inclusive music settings. C1 [Brown, Laura S.] Western Illinois Univ, Macomb, IL 61455 USA. [Jellison, Judith A.] Univ Texas Austin, Butler Sch Mus, Ctr Mus Learning, Austin, TX 78712 USA. 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Music Ther. PD FAL PY 2012 VL 49 IS 3 BP 335 EP 364 PG 30 WC Music; Rehabilitation SC Music; Rehabilitation GA 015YN UT WOS:000309484300004 PM 23259233 ER PT J AU Coker, TR Shaikh, Y Chung, PJ AF Coker, Tumaini R. Shaikh, Yahya Chung, Paul J. TI Parent-Reported Quality of Preventive Care for Children At-Risk for Developmental Delay SO ACADEMIC PEDIATRICS LA English DT Article DE developmental delay; developmental screening; preventive care; quality ID YOUNG-CHILDREN; MEDICAL HOME; PEDIATRIC OFFICE; US CHILDREN; AGE; DIAGNOSIS; NEEDS; DISPARITIES; PREVALENCE; AUTISM AB OBJECTIVE: To compare preventive care quality for children at risk and not at risk for developmental, behavioral, or social delays. METHODS: Using the 2007 National Survey of Children's Health (n = 22,269), we used the Parents' Evaluation of Developmental Status (PEDS) questionnaire to identify children ages 10 months to 5 years who were at risk for delays. We examined parent-reported quality measures to evaluate whether care was comprehensive, coordinated, family-centered, effective in providing developmental surveillance and screening, and provided within a medical home. Bivariate and multivariate analyses were used. RESULTS: Twenty-eight percent of children were at-risk for delay, with 17% at moderate risk and 11% at high risk. Greater proportions of children at high, moderate, and no/low risk had a usual source of care (89%-96%) and a personal doctor/nurse (91%-94%); smaller proportions of children underwent a standardized developmental screening (16%-23%) and had parental developmental concerns elicited from their doctor (47%-48%). In adjusted analyses, moderate-risk and high-risk children were less likely than no/low-risk children to receive needed care coordination (adjusted odds ratio [AOR] for high risk 0.33, 95% confidence interval [95% CI] 0.24-0.46) and referrals (high risk AOR 0.40, 95% CI 0.25-0.65), family-centered care (high-risk AOR 0.47, 95% CI 0.36-0.62), and to have a medical home (high-risk AOR 0.41, 95% CI 0.32-0.54). CONCLUSIONS: Our findings may reflect either poorer quality of care provided to at-risk children, or higher level of parental need that routine visits are not currently meeting. For at-risk children, enhanced screening and detection followed by targeted increases in communication and follow-up may help clinicians better anticipate families' needs. C1 [Coker, Tumaini R.; Chung, Paul J.] Univ Calif Los Angeles, RAND Ctr Adolescent Hlth Promot, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA. [Coker, Tumaini R.; Chung, Paul J.] Univ Calif Los Angeles, Mattel Childrens Hosp, Los Angeles, CA 90024 USA. [Coker, Tumaini R.; Chung, Paul J.] RAND Corp, Santa Monica, CA USA. [Chung, Paul J.] Univ Calif Los Angeles, Sch Publ Hlth, Dept Hlth Serv, Los Angeles, CA 90024 USA. RP Coker, TR (reprint author), Univ Calif Los Angeles, RAND Ctr Adolescent Hlth Promot, David Geffen Sch Med, Dept Pediat, 10960 Wilshire Blvd,Suite 1550, Los Angeles, CA 90024 USA. EM tcoker@mednet.ucla.edu FU Eunice Kennedy Shriver National Institute of Child Health and Human Development FX Dr. Coker was supported by a Eunice Kennedy Shriver National Institute of Child Health and Human Development K23 mentored patient-oriented research career development award. CR American Academy of Family Physicians, 2005, POL REC PER HLTH EX [Anonymous], 2007 NAT SURV CHILDR Bailey DB, 2009, PEDIATRICS, V124, P527, DOI 10.1542/peds.2008-2992 Bethell C, 2011, PEDIATRICS, V128, P146, DOI 10.1542/peds.2010-0424 Bethell CD, 2002, AMBUL PEDIATR, V2, P38, DOI 10.1367/1539-4409(2002)002<0038:ICWSHC>2.0.CO;2 Bethell CD, 2011, ACAD PEDIATR, V11, pS22, DOI 10.1016/j.acap.2010.08.011 Blumberg SJ, 2009, DESIGN OPERATION NAT Coker T, 2011, PEDIATRICS, V125, P1159 Committee on Practice and Ambulatory Medicine and Bright Futures Steering Committee, 2007, PEDIATRICS, V120, P1376, DOI DOI 10.1542/PEDS.2007-2901 Duby JC, 2006, PEDIATRICS, V118, P405, DOI 10.1542/peds.2006-1231 Forepath, PEDS PAR EV DEV STAT Glascoe FP, 1997, PEDIATRICS, V99, P522, DOI 10.1542/peds.99.4.522 Glascoe FP, 2003, CLIN PEDIATR, V42, P133, DOI 10.1177/000992280304200206 Guerrero AD, 2010, ACAD PEDIATR, V10, P400, DOI 10.1016/j.acap.2010.08.008 Guerrero AD, 2011, PEDIATRICS, V128, P901, DOI 10.1542/peds.2011-0030 Hagan J., 2008, GUIDELINES HLTH SUPE Halfon N, 2004, PEDIATRICS, V113, P1926 Homer CJ, 2008, PEDIATRICS, V122, pE922, DOI 10.1542/peds.2007-3762 LOCK TM, 1986, J DEV BEHAV PEDIATR, V7, P340 Mandell DS, 2002, J AM ACAD CHILD PSY, V41, P1447, DOI 10.1097/01.CHI.0000024863.60748.53 Mandell DS, 2005, PEDIATRICS, V116, P1480, DOI 10.1542/peds.2005-0185 Mann JR, 2008, DISABIL HEALTH J, V1, P157, DOI 10.1016/j.dhjo.2008.04.002 McPherson M, 1998, PEDIATRICS, V102, P137, DOI 10.1542/peds.102.1.137 Nunnally J. 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PD SEP-OCT PY 2012 VL 12 IS 5 BP 384 EP 390 PG 7 WC Pediatrics SC Pediatrics GA 013KV UT WOS:000309305200008 PM 22819200 ER PT J AU Fiks, AG Mayne, S Hughes, CC DeBartolo, E Behrens, C Guevara, JP Power, T AF Fiks, Alexander G. Mayne, Stephanie Hughes, Cayce C. DeBartolo, Elena Behrens, Carina Guevara, James P. Power, Thomas TI Development of an Instrument to Measure Parents' Preferences and Goals for the Treatment of Attention Deficit-Hyperactivity Disorder SO ACADEMIC PEDIATRICS LA English DT Article DE ADHD; patient preference; practice-based research; shared decision making ID DEFICIT/HYPERACTIVITY-DISORDER; PSYCHOMETRIC PROPERTIES; AFRICAN-AMERICAN; RATING-SCALE; CHILDREN; ADHD; INTERVENTIONS; MEDICATION; NUMBER; ACCEPTABILITY AB OBJECTIVES: To describe the development and validation of an instrument to measure parents' attention deficit hyperactivity disorder (ADHD) treatment preferences and goals. METHODS: Parents of children 6 to 12 years of age diagnosed with ADHD in the past 18 months were recruited from 8 primary care sites and an ADHD treatment center (autism excluded). A 16-item medication, 15-item behavior therapy preference scale and a 23-item goal scale, were developed after a review of the literature, 90 parent and clinician semistructured interviews, and input from parent advocates and professional experts were administered to parents. Parent cognitive interviews confirmed item readability, clarity, content, and response range. We conducted an exploratory factor analysis and assessed internal consistency and test-retest reliability and construct and concurrent validity. RESULTS: We recruited 237 parents (mean child age 8.1 years, 51% black, 59% from primary care, 61% of children medication naive). Factor analyses identified 4 medication preference subscales (treatment acceptability, feasibility, stigma, and adverse effects, Cronbach's alpha 0.74-0.87); 3 behavior therapy subscales (treatment acceptability, feasibility, and adverse effects, alpha 0.76-0.83); and 3 goal subscales (academic achievement, behavioral compliance, and interpersonal relationships, alpha 0.83-0.86). The most strongly endorsed goal was academic achievement. The scales demonstrated construct validity, concurrent validity (r = 0.3-0.6) compared with the Treatment Acceptability Questionnaire and Impairment Rating Scale and moderate to excellent test-retest reliability (intraclass coefficient = 0.7-0.9). CONCLUSIONS: We developed a valid and reliable instrument for measuring preferences and goals for ADHD treatment, which may help clinicians more easily comply with new national treatment guidelines for ADHD that emphasize shared decision making. C1 [Fiks, Alexander G.; Mayne, Stephanie] Univ Penn, Pediat Res Consortium PeRC, Philadelphia, PA 19104 USA. [Fiks, Alexander G.; Mayne, Stephanie; Hughes, Cayce C.; DeBartolo, Elena; Behrens, Carina] Univ Penn, Ctr Biomed Informat CBMI, Philadelphia, PA 19104 USA. [Fiks, Alexander G.; Mayne, Stephanie; Hughes, Cayce C.; DeBartolo, Elena; Behrens, Carina; Guevara, James P.] Univ Penn, Ctr Pediat Clin Effectiveness, Philadelphia, PA 19104 USA. [Fiks, Alexander G.; Mayne, Stephanie; Hughes, Cayce C.; DeBartolo, Elena; Behrens, Carina; Guevara, James P.] Univ Penn, PolicyLab, Philadelphia, PA 19104 USA. [Fiks, Alexander G.; Guevara, James P.; Power, Thomas] Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA. [Power, Thomas] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA. RP Fiks, AG (reprint author), Childrens Hosp Philadelphia, Pediat Generalist Res Grp, 3535 Market Suite,Room 1546, Philadelphia, PA 19104 USA. EM fiks@email.chop.edu FU Eunice Kennedy Shriver National Institute of Child Health & Human Development [K23HD059919] FX We thank Fran Barg, James Massey, the clinicians at CHOP's ADHD Center, Mark Ramos, and Russell Localio for their help with the conduct and analysis of this research. Marie Paxson of Children and Adults with Attention Deficit/Hyperactivity Disorder provided advice to the research team and reviewed the scales. We also thank the network of primary care physicians, the patients, and the families for their contributions to clinical research through the Pediatric Research Consortium at The Children's Hospital of Philadelphia. This research was supported by Award Number K23HD059919 from the Eunice Kennedy Shriver National Institute of Child Health & Human Development. The content is solely the responsibility of the authors and does not necessarily represent the official views of the Eunice Kennedy Shriver National Institute of Child Health & Human Development or the National Institutes of Health. 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We review our experience of 21 years with PWS and AS that were confirmed with the genetically. Results: Of the 13,875 patients recorded during the study period, 11 were diagnosed with PWS (18%), 7 males (63.6%) and 4 females (36.4%), with a mean age of 9.06 years (+/- 6.92, range: 0.68-21.6). The time of the follow up of this group was 3.83 years (+/- 4.03, range: 0.49-15.3), and the age at diagnosis was 4.4 years (+/- 6.84, range: 0.03-19.38). Almost three quarters (72.7% of the PWS patients had a uniparental dysomy and 27.3% a paternal deletion. Six patients (8%) were diagnosed with AS, 4 females (66.6%) and 2 males (33.4%), with a mean age of 14.65 years (+/- 11.89, range: 1.3-30.7). The time of follow up was 6.76 years (+/- 5.89,range: 0.16-15), and the age at diagnosis was 8.84 years (+/- 9.11, range: 1.10-23). A maternal deletion was present in 83.3% of the AS patients and 16.7% had a maternal dysomy. Discussion: As genetic advances are made these pathologies are confirmed before. Unlike the data in the literature, in our series most patients diagnosed with PWS (72'3%) had uniparental disomy. Recent studies correlation genotype with phenotype, in PWS is more serious if it occurs a deletion and in SA is milder in the case of uniparental disomy. Conclusions: Genetic studies must be performed in view of the established clinical symptoms: neonatal hypotonia of unknown cause in PWS and psychomotor deficits with autism features, particularly associated with epilepsy, must be evaluated in AS to prevent diagnostic uncertainties, unnecessary complementary examinations and to provide early genetic counselling. (C) 2011 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved. C1 [Royo Perez, D.; Monge Galindo, L.; Lopez Pison, J.; Perez Delgado, R.; Lafuente Hidalgo, M.; Pena Segura, J. L.] Hosp Univ Miguel Servet, Secc Neuropediat, Zaragoza, Spain. [Monge Galindo, L.; Lopez Pison, J.; Perez Delgado, R.; Lafuente Hidalgo, M.; Pena Segura, J. L.] Hosp Univ Miguel Servet, Inst Aragones Ciencias Salud, Grp Invest Neurometabol, Zaragoza, Spain. [Miramar Gallart, M. D.; Rodriguez Valle, A.; Calvo Martin, M. T.] Hosp Univ Miguel Servet, Serv Genet, Zaragoza, Spain. RP Pison, JL (reprint author), Hosp Univ Miguel Servet, Secc Neuropediat, Zaragoza, Spain. 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Pediatr. PD SEP PY 2012 VL 77 IS 3 BP 151 EP 157 DI 10.1016/j.anpedi.2012.01.021 PG 7 WC Pediatrics SC Pediatrics GA 013JI UT WOS:000309301300002 ER PT J AU Garcia-Ron, G Carratala, F Andreo-Lillo, P Mestre-Ricote, JL Moya, M AF Garcia-Ron, G. Carratala, F. Andreo-Lillo, P. Mestre-Ricote, J. L. Moya, M. TI Early clinical indicators of pervasive development disorders SO ANALES DE PEDIATRIA LA Spanish DT Article DE Autism; Diagnosis; Infancy; Outcome; Pervasive development disorders; Toddlers ID AUTISM SPECTRUM DISORDER; MODIFIED CHECKLIST; TODDLERS; CHILDREN; SENSITIVITY AB Introduction: Pervasive development disorders (PDD) conditions characterised by deficits in many areas of behaviour, such as delay in social interactions, abnormalities in verbal and non-verbal communication, and the presence of the restrictive and repetitive interests. The relevance of early diagnosis is based on the fact that early intervention could have a beneficial effect on the long term outcome. Due to the increase of the PDD diagnosis in the recent years, we aimed to study easily detectable clinical traits during the first year of life, leading to an improvement in the diagnosis. Patients and interventions: A prospective and retrospective study was conducted on 37 PDD patients and 69 healthy controls. Somatometric and neurological examinations were performed and a questionnaire with several variables from the Modified Checklist for Autism in Toddlers (M-CHAT) completed by the parents. Results: The male to female ratio (OR: 3.87; 95% CI: 1.23-12.96), delay in the first disyllabic words (PDD = 20.1 +/- 23 months vs Control = 10.8 +/- 10.3 months; P < .01), absence of visual contact (OR: 0.05; 95% CI: 0.01-0.29), the lack of response to attention call (OR: 0.12; 95% CI: 0.02-0.67), and the increase in tantrums (OR: 6.37; 95% CI: 2.39-17.34), were significantly higher in the PDD group. Conclusions: The differences detected between groups can not been considered as a diagnostic tool of certainty in this time period, however, we believe that they should be considered in the context of maturational delay, as alarm signs in infants and toddlers, as well as suggesting the existence of an early pervasive development phenotype. (C) 2011 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved. C1 [Garcia-Ron, G.; Carratala, F.; Andreo-Lillo, P.] Hosp Univ San Juan Alicante, Unidad Neuropediat, Alacant, Spain. [Mestre-Ricote, J. L.; Moya, M.] Hosp Univ San Juan Alicante, Unidad Neonatal, Alacant, Spain. RP Carratala, F (reprint author), Hosp Univ San Juan Alicante, Unidad Neuropediat, Alacant, Spain. 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Pediatr. PD SEP PY 2012 VL 77 IS 3 BP 171 EP 175 DI 10.1016/j.anpedi.2011.08.013 PG 5 WC Pediatrics SC Pediatrics GA 013JI UT WOS:000309301300005 PM 22444581 ER PT J AU White, SW Kreiser, NL Pugliese, C Scarpa, A AF White, Susan Williams Kreiser, Nicole L. Pugliese, Cara Scarpa, Angela TI Social anxiety mediates the effect of autism spectrum disorder characteristics on hostility in young adults SO AUTISM LA English DT Article DE autism; adult; social anxiety; hostility; aggression ID HIGH-FUNCTIONING CHILDREN; ASPERGER-SYNDROME; GENERAL-POPULATION; PEER REJECTION; QUOTIENT AQ; SELF-ESTEEM; ADOLESCENTS; AGGRESSION; LONELINESS; PHENOTYPE AB Problems with social anxiety are frequently reported in people with autism spectrum disorders (ASD). It is possible that social anxiety, when present, exacerbates the experience of hostility and other forms of aggression in relation to ASD symptoms. This study sought to determine if social anxiety symptoms mediate the relationship between features of ASD and feelings of hostility in young adults. Self-report measures of social anxiety, ASD, and facets of aggression were collected in a non-clinical sample (n = 618) of college students. Social anxiety was found to partially mediate the relationship between ASD features and self-reported hostility. There was also evidence for inconsistent mediation, such that social anxiety dampened the strength of the relationship between ASD symptoms and verbal and physical aggression. Findings highlight the potential influence of associated psychiatric symptoms in people with ASD. In addition, dimensional conceptualization of ASD symptoms, as opposed to a categorical approach solely, may be a useful approach to studying complex personality processes. C1 [White, Susan Williams; Kreiser, Nicole L.; Pugliese, Cara; Scarpa, Angela] Virginia Tech, Blacksburg, VA 24061 USA. 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TI Confusion and inconsistency in diagnosis of Asperger syndrome: a review of studies from 1981 to 2010 SO AUTISM LA English DT Review DE Asperger syndrome; high functioning autism; autism; diagnostic confusion; diagnostic debate; diagnostic status of Asperger Syndrome ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDER; PRESCHOOL-CHILDREN; LEARNING-DISABILITIES; PDD-NOS; MOTOR; LANGUAGE; COMMUNICATION; INDIVIDUALS AB This paper presents a review of past and current research on the diagnosis of Asperger syndrome (AS) in children. It is suggested that the widely used criteria for diagnosing AS in the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV are insufficient and invalid for a reliable diagnosis of AS. In addition, when these diagnostic criteria are applied, there is the potential bias of receiving a diagnosis towards the high-functioning end of the autism spectrum. Through a critical review of 69 research studies carried out between 1981 and 2010, this paper shows that six possible criteria for diagnosing AS (specifically, the age at which signs and symptoms related to autism become apparent, language and social communication abilities, intellectual abilities, motor or movement skills, repetitive patterns of behaviour and the nature of social interaction) overlap with the criteria for diagnosing autism. However, there is a possibility that some finer differences exist in the nature of social interaction, motor skills and speech patterns between groups with a diagnosis of AS and autism. These findings are proposed to be of relevance for designing intervention studies aimed at the treatment of specific symptoms in people with an autism spectrum disorder. C1 [Sharma, Shilpi; Woolfson, Lisa Marks; Hunter, Simon C.] Univ Strathclyde, Sch Psychol Sci & Hlth, Glasgow, Lanark, Scotland. RP Sharma, S (reprint author), Univ Strathclyde, Sch Psychol Sci & Hlth, Glasgow, Lanark, Scotland. 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The objective of this study was to evaluate the criterion and convergent validity of the DISCO-11 ICD-10 algorithm in young and low-functioning children. The DISCO-11, Autism Diagnostic Observation Schedule (ADOS), and Social Communication Questionnaire (SCQ) were administered to a Dutch sample of 115 children comprising 52 children with ASD (both with and without intellectual disability), 26 children with intellectual disability (non-ASD), and 37 typically developing children. Results indicated high sensitivity and specificity for DISCO-11 classifications in differentiating ASD from non-ASD according to the clinical classification in children with mild intellectual disability or average intelligence. Among children with a moderate or severe intellectual disability the sensitivity was equally high, but the specificity was significantly lower. The agreement between DISCO-11 and ADOS classifications was substantial, between DISCO-11 and SCQ moderate. The correlations between raw scores of the DISCO and ADOS algorithm or SCQ were both high. In conclusion, the DISCO-11 differentiates accurately between autistic disorder and non-ASD in young children with an average intelligence or mild intellectual disability, but is over inclusive in the lower levels of intellectual disability. C1 [Maljaars, Jarymke] Leiden Univ, Fac Social & Behav Sci, NL-2300 RB Leiden, Netherlands. [Noens, Ilse] Katholieke Univ Leuven, Louvain, Belgium. RP Maljaars, J (reprint author), Leiden Univ, Fac Social & Behav Sci, POB 9555, NL-2300 RB Leiden, Netherlands. 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Smith, Veronica Mirenda, Pat TI A systematic review of training programs for parents of children with autism spectrum disorders: Single subject contributions SO AUTISM LA English DT Review DE autism; intervention; parent training; communication; single subject research design ID YOUNG-CHILDREN; SOCIAL-INTERACTION; EARLY INTERVENTION; PRESCHOOL; SKILLS; TRIAL; COMMUNICATION; EDUCATION; PARADIGM; FAMILIES AB Aim: The purpose of this systematic review was to examine research utilizing single subject research designs (SSRD) to explore the effectiveness of interventions designed to increase parents' ability to support communication and social development in children with autism spectrum disorders (ASDs). Method: Included studies were systematically assessed for methodological quality (Logan et al., 2008; Smith et al., 2007) and intervention effects. Data examining participant characteristics, study methodology, outcomes, and analysis were systematically extracted. Results: Eleven SSRD parent-training intervention studies examining 44 participants with ASD were included. Overall, the studies were of moderate quality and reported increases in parent skills and child language and communication outcomes. Interpretation: The results supported by improvement rate difference (IRD) analysis indicated several interventions demonstrated positive effects for both parent and child outcomes. However, limited generalization and follow-up data suggested only one intervention demonstrated parents' accurate and ongoing intervention implementation beyond training. C1 [Patterson, Stephanie Y.] Univ Calif Los Angeles, Grad Sch Educ & Informat Studies, Los Angeles, CA 90095 USA. [Smith, Veronica] Univ Alberta, Edmonton, AB T6G 2M7, Canada. [Mirenda, Pat] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada. RP Patterson, SY (reprint author), Univ Calif Los Angeles, Grad Sch Educ & Informat Studies, Moore Hall 2027,Box 951521, Los Angeles, CA 90095 USA. 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Ten children with autism were videotaped in naturalistic conditions. Four grammatical sentence types were distinguished: imperative, declarative, interrogative and sub-sentential. For each category, the proportion of requests complied with significantly exceeded the proportion of requests not complied with, and no difference across categories was found. These results show that children with autism do not rely exclusively on the linguistic form to interpret an utterance as a request. C1 [Kissine, Mikhail] Univ Libre Brussels, FRS FNRS, B-1050 Brussels, Belgium. RP Kissine, M (reprint author), Univ Libre Brussels, FRS FNRS, CP 175,Av FD Roosevelt, B-1050 Brussels, Belgium. 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Totsika, Vasiliki Nash, Susie Hastings, Richard P. TI 'I just don't fit anywhere': support experiences and future support needs of individuals with Asperger syndrome in middle adulthood SO AUTISM LA English DT Article DE Asperger syndrome; support services; qualitative; adults ID INTERPRETATIVE PHENOMENOLOGICAL ANALYSIS; AUTISM; PERCEPTIONS; PSYCHOLOGY; DIAGNOSIS; MOTHERS; SCHOOL AB The experiences of individuals in middle adulthood with Asperger syndrome have been the subject of little previous research, especially in terms of their experience of support services. In the present research, 11 adults with Asperger syndrome were interviewed. Interpretative phenomenological analysis (IPA) was used to interpret the interviews. Four themes emerged from the analysis: living with Asperger syndrome; employment issues; experiences with mainstream support; and future steps towards supporting adults with Asperger syndrome. The findings highlighted the anxiety, depression, and communication difficulties that people with Asperger syndrome may experience. Much of the available support is perceived as unsuitable for individuals with Asperger syndrome. All participants wanted to remain as independent as possible, and believed an individualized approach to support would be greatly beneficial. Recommendations are made for future practice to help support adults with Asperger syndrome. C1 [Griffith, Gemma M.; Totsika, Vasiliki; Nash, Susie; Hastings, Richard P.] Bangor Univ, Sch Psychol, Bangor II57 2AS, Gwynedd, Wales. RP Griffith, GM (reprint author), Bangor Univ, Sch Psychol, Brigantia Bldg,Penrhalt Rd, Bangor II57 2AS, Gwynedd, Wales. 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Hammer, Matthieu Varoqueaux, Frederique Brose, Nils TI Homodimerization and isoform-specific heterodimerization of neuroligins SO BIOCHEMICAL JOURNAL LA English DT Article DE autism; cross-linking; dimer; endoplasmic reticulum (ER) retention; oligomerization; synaptic adhesion; transmembrane domain ID ENDOPLASMIC-RETICULUM RETENTION; FOLD PROTEIN FAMILY; INHIBITORY SYNAPSES; TRANSMEMBRANE HELIX; NEUREXIN COMPLEX; GAMMA-SECRETASE; AUTISM REVEALS; BETA-NEUREXINS; DENTATE GYRUS; CELL-ADHESION AB Neuroligins are postsynaptic adhesion proteins involved in the establishment of functional synapses in the central nervous system. In rodents, four genes give rise to neuroligins that function at distinct synapses, with corresponding neurotransmitter and subtype specificities. In the present study, we examined the interactions between the different neuroligins by isolating endogenous oligomeric complexes using in situ cross-linking on primary neurons. Examining hippocampal, striatal, cerebellar and spinal cord cultures, we found that neuroligins form constitutive dimers, including homomers and, most notably, neuroligin 1/3 heteromers. Additionally, we found that neuroligin monomers are specifically retained in the secretory pathway through a cellular quality control mechanism that involves the neuroligin transmembrane domain, ensuring that dimerization occurs prior to cell surface trafficking. Lastly, we identified differences in the dimerization capacity of autism-associated neuroligin mutants, and found that neuroligin 3 R471C mutants can form heterodimers with neuroligin 1. The pervasive nature of neuroligin dimerization indicates that the unit of neuroligin function is the dimer, and raises intriguing possibilities of distinct heterodimer functions, and of interactions between native and mutant neuroligins contributing to disease phenotypes. C1 [Varoqueaux, Frederique] Max Planck Inst Expt Med, Dept Mol Neurobiol, D-37075 Gottingen, Germany. DFG Ctr Mol Physiol Brain, D-37075 Gottingen, Germany. RP Varoqueaux, F (reprint author), Max Planck Inst Expt Med, Dept Mol Neurobiol, D-37075 Gottingen, Germany. EM varoqueaux@em.mpg.de; brose@em.mpg.de RI Poulopoulos, Alexandros/C-3659-2008 OI Poulopoulos, Alexandros/0000-0002-5318-7388 FU Max Planck Society; German Research Foundation [GRK 521, FZT 103]; European Commission (EUROSPIN); European Commission (SynSys); European Commission (EU-AIMS); Cure Autism Now Foundation; Marie Curie IEF fellowship [274972] FX This work was supported by the Max Planck Society, the German Research Foundation (grant numbers GRK 521 and FZT 103 (to F.V. and N.B.)], the European Commission (EUROSPIN, SynSys, EU-AIMS; to N.B.) and the Cure Autism Now Foundation (to F.V.). L.P.T. is a recipient of a Marie Curie IEF fellowship [grant number 274972]. 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J. PD SEP 1 PY 2012 VL 446 BP 321 EP 330 DI 10.1042/BJ20120808 PN 2 PG 10 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA 005RM UT WOS:000308767500016 PM 22671294 ER PT J AU Jung, KM Sepers, M Henstridge, CM Lassalle, O Neuhofer, D Martin, H Ginger, M Frick, A DiPatrizio, NV Mackie, K Katona, I Piomelli, D Manzoni, OJ AF Jung, Kwang-Mook Sepers, Marja Henstridge, Christopher M. Lassalle, Olivier Neuhofer, Daniela Martin, Henry Ginger, Melanie Frick, Andreas DiPatrizio, Nicholas V. Mackie, Ken Katona, Istvan Piomelli, Daniele Manzoni, Olivier J. TI Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome SO NATURE COMMUNICATIONS LA English DT Article ID METABOTROPIC GLUTAMATE RECEPTORS; DIACYLGLYCEROL-LIPASE-ALPHA; MENTAL-RETARDATION PROTEIN; LONG-TERM DEPRESSION; NUCLEUS-ACCUMBENS; SYNAPTIC PLASTICITY; MONOGLYCERIDE LIPASE; MESSENGER-RNAS; CB1 RECEPTOR; TRANSLATION AB Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile X mental retardation protein, which regulates signal transduction at metabotropic glutamate receptor-5 in the brain. Fragile X mental retardation protein deletion in mice enhances metabotropic glutamate receptor-5-dependent long-term depression in the hippocampus and cerebellum. Here we show that a distinct type of metabotropic glutamate receptor-5-dependent long-term depression at excitatory synapses of the ventral striatum and prefrontal cortex, which is mediated by the endocannabinoid 2-arachidonoyl-sn-glycerol, is absent in fragile X mental retardation protein-null mice. In these mutants, the macromolecular complex that links metabotropic glutamate receptor-5 to the 2-arachidonoyl-sn-glycerol-producing enzyme, diacylglycerol lipase-alpha (endocannabinoid signalosome), is disrupted and metabotropic glutamate receptor-5-dependent 2-arachidonoyl-sn-glycerol formation is compromised. These changes are accompanied by impaired endocannabinoid-dependent long-term depression. Pharmacological enhancement of 2-arachidonoyl-sn-glycerol signalling normalizes this synaptic defect and corrects behavioural abnormalities in fragile X mental retardation protein-deficient mice. The results identify the endocannabinoid signalosome as a molecular substrate for fragile X syndrome, which might be targeted by therapy. C1 [Henstridge, Christopher M.; Katona, Istvan] Hungarian Acad Sci, Inst Expt Med, H-1083 Budapest, Hungary. [Jung, Kwang-Mook; DiPatrizio, Nicholas V.; Piomelli, Daniele] Univ Calif Irvine, Dept Anat & Neurobiol, Irvine, CA 92697 USA. [Sepers, Marja; Ginger, Melanie; Frick, Andreas; Manzoni, Olivier J.] INSERM, Circuit & Dendrit Mech Underlying Cort Plast Grp, Neuroctr Magendie, U862, F-33077 Bordeaux, France. [Sepers, Marja; Ginger, Melanie; Frick, Andreas; Manzoni, Olivier J.] Univ Bordeaux, F-33077 Bordeaux, France. [Lassalle, Olivier; Neuhofer, Daniela; Martin, Henry; Manzoni, Olivier J.] INSERM, U901, F-13009 Marseille, France. [Lassalle, Olivier; Neuhofer, Daniela; Martin, Henry; Manzoni, Olivier J.] Univ Aix Marseille 2, UMR S901, Aix Marseille 2, France. [Lassalle, Olivier; Neuhofer, Daniela; Martin, Henry; Manzoni, Olivier J.] INMED, F-13009 Marseille, France. [Mackie, Ken] Indiana Univ, Dept Psychol & Brain Sci, Gill Ctr Biomol Sci, Bloomington, IN 47405 USA. [Piomelli, Daniele] Univ Calif Irvine, Dept Biol Chem, Irvine, CA 92697 USA. [Piomelli, Daniele] Italian Inst Technol, Unit Drug Discovery & Dev, I-16163 Genoa, Italy. RP Katona, I (reprint author), Hungarian Acad Sci, Inst Expt Med, H-1083 Budapest, Hungary. EM katona@koki.hu; piomelli@uci.edu; olivier.manzoni@inserm.fr RI Katona, Istvan/D-9729-2011; Mackie, Ken/E-3715-2013 OI Katona, Istvan/0000-0003-2808-3330; Mackie, Ken/0000-0001-8501-6199 FU INSERM; ANR-Blanc France-Taiwan RescueMemo; FRAXA research foundation; Brain and Behavior Research Foundation; National Institute on Drug Abuse [DA-012447]; Hungarian Scientific Research Fund-Norwegian Financial Mechanism Joint Program [NNF 78918]; European Research Council Grant [243153]; NIH [DA-011322, DA-021696]; European Molecular Biology Organization long-term fellowship FX This work was supported by INSERM, ANR-Blanc France-Taiwan RescueMemo (O.J.M), FRAXA research foundation (M.S. and O.J.M.), a NARSAD 2010 Independent Investigator Grant given by the Brain and Behavior Research Foundation (O.J.M.), National Institute on Drug Abuse (DA-012447, D.P.), the Hungarian Scientific Research Fund-Norwegian Financial Mechanism Joint Program (NNF 78918), European Research Council Grant 243153 to I.K. and NIH grants (DA-011322 and DA-021696) to K.M.C.M.H. was a recipient of a European Molecular Biology Organization long-term fellowship. The contribution of the Agilent Technologies/University of California, Irvine Analytical Discovery Facility, Center for Drug Discovery is gratefully acknowledged. We acknowledge FRAXA research foundation (Dr D. Nelson, Baylor College of Medicine) for providing the Fmr1 KO2 mice. We thank Mr L. Barna, the Nikon Microscopy Center at IEM, Nikon Austria GmbH and Auro-Science Consulting Ltd for providing microscopy support and B. Dudok for his help in electron microscopy. We are grateful to Prof. Z. Nusser and Dr G. Nyiri for their help with statistical analysis. The technical assistance of Dr E. Horvath, G. Goda, B. Pinter, D. Thongkham and J. Lockney is also acknowledged. O.J.M. is grateful to Dr P. Chavis and Po-Wu Gean for helpful discussions and to R. Martinez for his help during the installation of the new laboratory. 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Commun. PD SEP PY 2012 VL 3 AR 1080 DI 10.1038/ncomms2045 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 013XA UT WOS:000309338100047 PM 23011134 ER PT J AU Taylor, JL McPheeters, ML Sathe, NA Dove, D Veenstra-VanderWeele, J Warren, Z AF Taylor, Julie Lounds McPheeters, Melissa L. Sathe, Nila A. Dove, Dwayne Veenstra-VanderWeele, Jeremy Warren, Zachary TI A Systematic Review of Vocational Interventions for Young Adults With Autism Spectrum Disorders SO PEDIATRICS LA English DT Review DE autism spectrum disorders; supported employment; vocational training ID FOLLOW-UP; EMPLOYMENT; COSTS; ADOLESCENTS; POPULATION; TRANSITION; SERVICES; CHILDREN AB BACKGROUND AND OBJECTIVE: Many individuals with autism spectrum disorders (ASDs) are approaching adolescence and young adulthood; interventions to assist these individuals with vocational skills are not well understood. This study systematically reviewed evidence regarding vocational interventions for individuals with ASD between the ages of 13 and 30 years. METHODS: The Medline, PsycINFO, and ERIC databases (1980-December 2011) and reference lists of included articles were searched. Two reviewers independently assessed each study against predetermined inclusion/exclusion criteria. Two reviewers independently extracted data regarding participant and intervention characteristics, assessment techniques, and outcomes, and assigned overall quality and strength of evidence ratings based on predetermined criteria. RESULTS: Five studies were identified; all were of poor quality and all focused on on-the-job supports as the employment/vocational intervention. Short-term studies reported that supported employment was associated with improvements in quality of life (1 study), ASD symptoms (1 study), and cognitive functioning (1 study). Three studies reported that interventions increased rates of employment for young adults with ASD. CONCLUSIONS: Few studies have been conducted to assess vocational interventions for adolescents and young adults with ASD. As such, there is very little evidence available for specific vocational treatment approaches as individuals transition to adulthood. All studies of vocational approaches were of poor quality, which may reflect the recent emergence of this area of research. Individual studies suggest that vocational programs may increase employment success for some; however, our ability to understand the overall benefit of supported employment programs is limited given the existing research. Pediatrics 2012;130:531-538 C1 [Taylor, Julie Lounds; Dove, Dwayne; Warren, Zachary] Vanderbilt Kennedy Ctr, Dept Pediat, Nashville, TN 37203 USA. [McPheeters, Melissa L.] Vanderbilt Univ Sch Med, Dept Obstet & Gynecol, Nashville, TN USA. [McPheeters, Melissa L.; Sathe, Nila A.] Vanderbilt Univ Sch Med, Vanderbilt Evidence Based Practice Ctr, Inst Med & Publ Hlth, Nashville, TN USA. [Veenstra-VanderWeele, Jeremy] Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders, Ctr Mol Neurosci, Dept Psychiat, Nashville, TN 37203 USA. [Veenstra-VanderWeele, Jeremy] Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders, Ctr Mol Neurosci, Dept Pediat, Nashville, TN 37203 USA. [Veenstra-VanderWeele, Jeremy] Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders, Ctr Mol Neurosci, Dept Pharmacol, Nashville, TN 37203 USA. [Warren, Zachary] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders, Dept Pediat, Nashville, TN USA. [Warren, Zachary] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders, Dept Psychiat, Nashville, TN USA. RP Taylor, JL (reprint author), Vanderbilt Kennedy Ctr, Dept Pediat, PMB 40-230 Appleton Pl, Nashville, TN 37203 USA. EM julie.l.taylor@vanderbilt.edu FU Agency for Healthcare Research and Quality, US Department of Health and Human Services [HHSA 290 2007 10065 I]; National Institute of Mental Health [K01 MH092598]; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Autism Speaks; Marino Autism Research Institute; National Institute of Child Health and Human Development; Agency for Healthcare Research and Quality [HHSA 290 2007 10065 I]; American Academy of Child and Adolescent Psychiatry; NARSAD; Seaside Therapeutics; Roche Pharmaceuticals; Novartis; National Science Foundation; Simons Foundation FX This project was funded under contract HHSA 290 2007 10065 I from the Agency for Healthcare Research and Quality, US Department of Health and Human Services. The authors of this report are responsible for its content. Statements in the report should not be construed as endorsement by the Agency for Healthcare Research and Quality or the US Department of Health and Human Services.Dr Taylor has received research support from the National Institute of Mental Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Autism Speaks, and the Marino Autism Research Institute. Dr Dove has received training support from the National Institute of General Medical Sciences, National Heart, Lung, and Blood Institute, National Institute of Child Health and Human Development, Maternal Child Health Bureau, the American Heart Association, and the Autism Speaks Autism Treatment Network. Dr Veenstra-VanderWeele has received research support from the National Institute of Mental Health, the National Institute of Child Health and Human Development, the Agency for Healthcare Research and Quality, Autism Speaks, the American Academy of Child and Adolescent Psychiatry, NARSAD, Seaside Therapeutics, Roche Pharmaceuticals, and Novartis. He has consulted for Novartis. Dr Warren has received research support from the National Institute of Mental Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Science Foundation, the Agency for Healthcare Research and Quality, Autism Speaks, the Marino Autism Research Institute, and the Simons Foundation. Dr McPheeters and Ms Sathe have indicated they have no financial relationships relevant to this article to disclose.The full review project was supported by the Agency for Healthcare Research and Quality (contract HHSA 290 2007 10065 I). The primary author was supported by the National Institute of Mental Health through a K01 award (K01 MH092598) during participation on the project and preparation of the manuscript. 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H. F. S. Teixeira, H. C. Gattaz, W. F. Brandao, M. A. F. Raposo, N. R. B. TI Altered Neurotrophin, Neuropeptide, Cytokines and Nitric Oxide Levels in Autism SO PHARMACOPSYCHIATRY LA English DT Article DE autism; children; VIP; NT-3; cytokines; nitric oxide ID VASOACTIVE-INTESTINAL-PEPTIDE; CORTICOSPINAL NEURONS; ELECTRICAL-ACTIVITY; NEONATAL BLOOD; DOWN-SYNDROME; IN-VIVO; CHILDREN; SURVIVAL; ACTIVATION; MECHANISMS AB Introduction: Modifications in neurotrophins, neuropeptides, cytokines and nitric oxide (NO) levels in autism may represent different biological aspects of the disease. In the present study we investigate simultaneously all these variables as an attempt to clarify their interrelationships in autism. Methods: Plasma levels of vasoactive intestinal peptide (VIP), neurotrophin-3 (NT-3), cytokines and nitric oxide (NO) were determined in children with DSM-IV autistic disorder (n = 24) and in age- and gender-matched healthy controls (n = 24). VIP, NT-3, IFN-gamma and IL-1 beta levels were measured by ELISA, TNF-alpha, IL-10, IL-6, IL-4, IL-2 were evaluated by flow cytometry, and NO by Griess reaction. Results: Plasma levels of VIP, IFN-gamma and NO were significantly higher and NT-3 plasma levels were significantly lower in children with autism, compared to the healthy subjects. In children with autism there was a positive correlation between plasma levels of NO and IFN-gamma. Discussion: Our results indicate the presence of altered levels of neurotrophin and neuropeptide in infantile autism and provide additional evidence that higher levels of IFN-gamma may be associated with increased oxidative stress in autism. C1 [Tostes, M. H. F. S.; Brandao, M. A. F.; Raposo, N. R. B.] Univ Fed Juiz de Fora, NUPICS NIQUA, BR-36036900 Juiz De Fora, MG, Brazil. [Teixeira, H. C.] Univ Fed Juiz de Fora, Inst Biol Sci, Dept Parasitol Microbiol & Immunol, BR-36036900 Juiz De Fora, MG, Brazil. [Gattaz, W. F.; Raposo, N. R. 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Ann. PD SEP PY 2012 VL 42 IS 9 BP 342 EP 346 DI 10.3928/00485713-20120906-08 PG 5 WC Psychiatry SC Psychiatry GA 014ZF UT WOS:000309413800008 ER PT J AU Henderson, BJ Gonzalez-Cestari, TF Yi, B Pavlovicz, RE Boyd, RT Li, CL Bergmeier, SC McKay, DB AF Henderson, Brandon J. Gonzalez-Cestari, Tatiana F. Yi, Bitna Pavlovicz, Ryan E. Boyd, R. Thomas Li, Chenglong Bergmeier, Stephen C. McKay, Dennis B. TI Defining the Putative Inhibitory Site for a Selective Negative Allosteric Modulator of Human alpha 4 beta 2 Neuronal Nicotinic Receptors SO ACS CHEMICAL NEUROSCIENCE LA English DT Article DE Negative allosteric modulator (NAM); neuronal nicotinic acetylcholine receptors (nAChRs); alpha 4 beta 2; site-directed mutagenesis; structure-activity relationships; nicotine ID RING-E ANALOGS; ACETYLCHOLINE-RECEPTORS; SMOKING-CESSATION; INTERNATIONAL UNION; PARTIAL AGONIST; ANTAGONISTS; METHYLLYCACONITINE; VARENICLINE; SUBUNIT; NOMENCLATURE AB Neuronal nicotinic receptors (nAChRs) have been implicated in several diseases and disorders such as autism spectrum disorders, Alzheimer's disease, Parkinson's disease, epilepsy, and nicotine addiction. To understand the role of nAChRs in these conditions, it would be beneficial to have selective molecules that target specific nAChRs in vitro and in vivo. Our laboratory has previously identified a novel allosteric site on human alpha 4 beta 2 nAChRs using a series of computational and in vitro approaches. At this site, we have identified negative allosteric modulators that selectively inhibit human alpha 4 beta 2 nAChRs, a subtype implicated in nicotine addiction. This study characterizes the allosteric site via site-directed mutagenesis. Three amino acids (Phe118, Glu60, and Thr58) on the beta 2 subunit were shown to participate in the inhibitory properties of the selective antagonist KAB-18 and provided insights into its antagonism of human alpha 4 beta 2 nAChRs. SAR studies with KAB-18 analogues and various mutant alpha 4 beta 2 nAChRs also provided information concerning how different physiochemical features influence the inhibition of nAChRs through this allosteric site. Together, these studies identify the amino acids that contribute to the selective antagonism of human alpha 4 beta 2 nAChRs at this allosteric site. 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FU National Institutes of Health National Institute on Drug Abuse [DA029433]; National Institutes of Health National Institute on Drug Abuse Diversity Supplement; American Foundation for Pharmaceutical Education; Ohio Supercomputer Center FX This work was supported by the National Institutes of Health National Institute on Drug Abuse [Grant DA029433]. Financial support for B.J.H. is from the National Institutes of Health National Institute on Drug Abuse Diversity Supplement. Financial support for REP is from the American Foundation for Pharmaceutical Education. A grant of computational resources was received from the Ohio Supercomputer Center. 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Neurosci. PD SEP PY 2012 VL 3 IS 9 BP 682 EP 692 DI 10.1021/cn300035f PG 11 WC Biochemistry & Molecular Biology; Chemistry, Medicinal; Neurosciences SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy; Neurosciences & Neurology GA 009HI UT WOS:000309016500007 PM 23019495 ER PT J AU Chung, YC Carter, EW Sisco, LG AF Chung, Yun-Ching Carter, Erik W. Sisco, Lynn G. TI Social Interactions of Students with Disabilities Who Use Augmentative and Alternative Communication in Inclusive Classrooms SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE social interaction; augmentative and alternative communication; paraprofessionals; inclusive education; severe disabilities ID HIGH-SCHOOL-STUDENTS; DEVELOPMENTAL-DISABILITIES; PEER INTERACTIONS; INTELLECTUAL DISABILITIES; MULTIPLE DISABILITIES; INTERVENTION RESEARCH; LITERACY INSTRUCTION; MENTAL-RETARDATION; CEREBRAL-PALSY; CHILDREN AB The purpose of this study was to explore the naturally occurring social interactions for students with disabilities who use augmentative and alternative communication (AAC) in general education classrooms. We observed 16 students who used AAC and received services under the categories of autism or intellectual disability. 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Helm-Estabrooks, Nancy Sideris, John Vanderbilt, Jacqueline Moskowitz, Lauren TI Perseveration in the Connected Speech of Boys with Fragile X Syndrome with and Without Autism Spectrum Disorder SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE Fragile X syndrome; autism; Down syndrome; perseveration; X-linked ID DEVELOPMENTAL LANGUAGE DISORDERS; MENTAL-RETARDATION PROTEIN; DOWN-SYNDROME; YOUNG-CHILDREN; EXPRESSIVE LANGUAGE; SAMPLING CONTEXT; MALES; BEHAVIOR; SKILLS; COMMUNICATION AB Verbal perseveration is a frequently reported language characteristic of males with Fragile X syndrome and may be a defining feature or hallmark of the syndrome. We compared the verbal perseveration of boys with Fragile X syndrome with (n = 29) and without (n = 30) autism spectrum disorder, boys with Down syndrome (n = 27), and typically developing boys (n = 25) at similar nonverbal mental ages. 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PD SEP PY 2012 VL 117 IS 5 BP 384 EP 399 DI 10.1352/1944-7558-117.5.384 PG 16 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 009NW UT WOS:000309033500004 PM 22998486 ER PT J AU Ledford, JR Lane, JD Elam, KL Wolery, M AF Ledford, Jennifer R. Lane, Justin D. Elam, Katherine L. Wolery, Mark TI Using Response-prompting Procedures During Small-group Direct Instruction: Outcomes and Procedural Variations SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE direct instruction; prompting procedures; small group; discrete behaviors ID CONSTANT TIME-DELAY; AUTISM SPECTRUM DISORDERS; SINGLE-SUBJECT RESEARCH; SMART BOARD TECHNOLOGY; SPECIAL-EDUCATION; ATTENTIONAL RESPONSES; WORD RECOGNITION; SEVERE HANDICAPS; STUDENTS; DISABILITIES AB Research was reviewed on small-group instruction for learners with disabilities. The review was conducted for articles published between 1990 and 2010 on the application of small-group direct instruction to teach discrete skills using prompting procedures. A total of 47 articles with 197 participants and 687 replications of effects was located. Small-group instruction was effective for 195 of 197 participants and across variations in implementation and contexts. Implementers were primarily special education personnel, and instruction typically occurred in special education settings. Rigorous designs were used in all studies, and fidelity was assessed in 46 of 47 studies and was uniformly high. Students consistently reached criterion on their own target behaviors, generalized those behaviors, maintained them, and learned the behaviors taught to their peers (when this was measured, which occurred in a majority of the studies). Future research should examine comparisons of procedural variables and promoting social behaviors between group mates. C1 [Ledford, Jennifer R.] Vanderbilt Peabody Coll, Dept Special Educ, Nashville, TN 37203 USA. [Lane, Justin D.] Univ Georgia, Athens, GA 30602 USA. [Elam, Katherine L.] Metropolitan Nashville Publ Sch, Nashville, TN USA. RP Ledford, JR (reprint author), Vanderbilt Peabody Coll, Dept Special Educ, Box 228, Nashville, TN 37203 USA. 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PD SEP PY 2012 VL 117 IS 5 BP 413 EP 434 DI 10.1352/1944-7558-117.5.413 PG 22 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 009NW UT WOS:000309033500006 PM 22998488 ER PT J AU Wilkinson, KM Light, J Drager, K AF Wilkinson, Krista M. Light, Janice Drager, Kathryn TI Considerations for the Composition of Visual Scene Displays: Potential Contributions of Information from Visual and Cognitive Sciences SO AUGMENTATIVE AND ALTERNATIVE COMMUNICATION LA English DT Article DE Aided AAC; Visual scene displays; Visual and cognitive sciences ID AUTISM SPECTRUM DISORDER; SPEECH-LANGUAGE PATHOLOGISTS; WILLIAMS-SYNDROME; AAC TECHNOLOGIES; JOINT ATTENTION; NATURAL SCENES; AIDED AAC; DISABILITIES; CHILDREN; COMMUNICATION AB Aided augmentative and alternative (AAC) interventions have been demonstrated to facilitate a variety of communication outcomes in persons with intellectual disabilities. Most aided AAC systems rely on a visual modality. When the medium for communication is visual, it seems likely that the effectiveness of intervention depends in part on the effectiveness and efficiency with which the information presented in the display can be perceived, identified, and extracted by communicators and their partners. Understanding of visual-cognitive processing - that is, how a user attends, perceives, and makes sense of the visual information on the display - therefore seems critical to designing effective aided AAC interventions. In this Forum Note, we discuss characteristics of one particular type of aided AAC display, that is, Visual Scene Displays (VSDs) as they may relate to user visual and cognitive processing. We consider three specific ways in which bodies of knowledge drawn from the visual cognitive sciences may be relevant to the composition of VSDs, with the understanding the direct research with children with complex communication needs is necessary to verify or refute our speculations. C1 [Wilkinson, Krista M.; Light, Janice; Drager, Kathryn] Penn State Univ, University Pk, PA 16802 USA. RP Wilkinson, KM (reprint author), Penn State Univ, 404-H Ford Bldg, University Pk, PA 16802 USA. EM kmw22@psu.edu FU Communication Enhancement Rehabilitation Engineering Research Center (AAC_ RERC); National Institute on Disability and Rehabilitation Research (NIDRR) [H133E030018]; National Institute of Child Health and Human Development (NICHD) [P01 HD25995] FX This research was supported in part through two grants: (1) the Communication Enhancement Rehabilitation Engineering Research Center (AAC_ RERC), a virtual research center that is funded by the National Institute on Disability and Rehabilitation Research (NIDRR) under grant H133E030018, and (2) grant # P01 HD25995 from the National Institute of Child Health and Human Development (NICHD). The opinions contained in this publication are those of the grantees and do not necessarily reflect those of the granting agencies. 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PD SEP PY 2012 VL 36 IS 5 BP 650 EP 669 DI 10.1177/0145445511436006 PG 20 WC Psychology, Clinical SC Psychology GA 005QT UT WOS:000308765600003 PM 22421393 ER PT J AU Andrews, N AF Andrews, Nick TI Epidemiological designs for vaccine safety assessment: Methods and pitfalls SO BIOLOGICALS LA English DT Article; Proceedings Paper CT Symposium on Post Licensure Evaluation of Vaccine Safety - Current Status and Future Directions CY APR 27-28, 2011 CL Barcelona, SPAIN SP Int Alliance Biol Standardizat (IABS) DE Vaccine safety; Case control; Cohort; Self-controlled case series; Post-licensure; Methodology ID CASE SERIES; CAUSAL ASSOCIATION; AUTISM; MEASLES; MUMPS; MMR AB Three commonly used designs for vaccine safety assessment post licensure are cohort, case-control and self-controlled case series. These methods are often used with routine health databases and immunisation registries. This paper considers the issues that may arise when designing an epidemiological study, such as understanding the vaccine safety question, case definition and finding, limitations of data sources, uncontrolled confounding, and pitfalls that apply to the individual designs. The example of MMR and autism, where all three designs have been used, is presented to help consider these issues. (C) 2011 The International Alliance for Biological Standardization. Published by Elsevier Ltd. All rights reserved. C1 Hlth Protect Agcy, Stat Modelling & Econ Dept, Hlth Protect Serv, London NW9 5EQ, England. RP Andrews, N (reprint author), Hlth Protect Agcy, Stat Modelling & Econ Dept, Hlth Protect Serv, 61 Colindale Ave, London NW9 5EQ, England. 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Minett, Michael S. Cregg, Roman Werdehausen, Robert Rugiero, Francois Wood, John N. TI Neurological perspectives on voltage-gated sodium channels SO BRAIN LA English DT Review DE ion channel; genetics; pain; epilepsy; SCN1A ID EXTREME PAIN DISORDER; SEVERE MYOCLONIC EPILEPSY; SPINAL SENSORY NEURONS; PERSISTENT NA+ CURRENT; ROOT GANGLION NEURONS; FEBRILE SEIZURES-PLUS; DE-NOVO MUTATIONS; FAMILIAL HEMIPLEGIC MIGRAINE; NEONATAL-INFANTILE SEIZURES; CEREBELLAR PURKINJE NEURONS AB The activity of voltage-gated sodium channels has long been linked to disorders of neuronal excitability such as epilepsy and chronic pain. Recent genetic studies have now expanded the role of sodium channels in health and disease, to include autism, migraine, multiple sclerosis, cancer as well as muscle and immune system disorders. Transgenic mouse models have proved useful in understanding the physiological role of individual sodium channels, and there has been significant progress in the development of subtype selective inhibitors of sodium channels. This review will outline the functions and roles of specific sodium channels in electrical signalling and disease, focusing on neurological aspects. We also discuss recent advances in the development of selective sodium channel inhibitors. C1 [Eijkelkamp, Niels; Linley, John E.; Minett, Michael S.; Cregg, Roman; Werdehausen, Robert; Rugiero, Francois; Wood, John N.] UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, England. [Baker, Mark D.] Neurosci Inst Cell & Mol Sci Barts & London Sch M, London E1 2AT, England. [Werdehausen, Robert] Univ Dusseldorf, Fac Med, Dept Anaesthesiol, D-40225 Dusseldorf, Germany. RP Wood, JN (reprint author), UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, Gower St,Cruciform Bldg, London WC1E 6BT, England. EM n.eijkelkamp@ucl.ac.uk; j.wood@ucl.ac.uk FU Medical Research Council; Wellcome Trust; Biochemistry and Biotechnology Research Council; Netherlands Organisation for Scientific Research (NWO); Deutsche Forschungsgemeinschaft, Bonn, Germany [We 4860/1-1] FX J.N.W. thanks the Medical Research Council, The Wellcome Trust and the Biochemistry and Biotechnology Research Council for generous financial support. N.E. is supported by a Rubicon fellowship of The Netherlands Organisation for Scientific Research (NWO). R.W. is supported by a research fellowship (We 4860/1-1) from Deutsche Forschungsgemeinschaft, Bonn, Germany. 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0006-8950 J9 BRAIN JI Brain PD SEP PY 2012 VL 135 BP 2585 EP 2612 DI 10.1093/brain/aws225 PN 9 PG 28 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 007FG UT WOS:000308873600005 PM 22961543 ER PT J AU Gotts, SJ Simmons, WK Milbury, LA Wallace, GL Cox, RW Martin, A AF Gotts, Stephen J. Simmons, W. Kyle Milbury, Lydia A. Wallace, Gregory L. Cox, Robert W. Martin, Alex TI Fractionation of social brain circuits in autism spectrum disorders SO BRAIN LA English DT Article DE autism spectrum disorders; functional connectivity; resting state functional MRI; limbic system; cluster analysis ID INTRINSIC FUNCTIONAL ARCHITECTURE; CEREBRAL-CORTEX; DIAGNOSTIC INTERVIEW; DEFAULT NETWORK; NEURAL BASIS; CONNECTIVITY; FMRI; STATE; COGNITION; AMYGDALA AB Autism spectrum disorders are developmental disorders characterized by impairments in social and communication abilities and repetitive behaviours. Converging neuroscientific evidence has suggested that the neuropathology of autism spectrum disorders is widely distributed, involving impaired connectivity throughout the brain. Here, we evaluate the hypothesis that decreased connectivity in high-functioning adolescents with an autism spectrum disorder relative to typically developing adolescents is concentrated within domain-specific circuits that are specialized for social processing. Using a novel whole-brain connectivity approach in functional magnetic resonance imaging, we found that not only are decreases in connectivity most pronounced between regions of the social brain but also they are selective to connections between limbic-related brain regions involved in affective aspects of social processing from other parts of the social brain that support language and sensorimotor processes. This selective pattern was independently obtained for correlations with measures of social symptom severity, implying a fractionation of the social brain in autism spectrum disorders at the level of whole circuits. C1 [Gotts, Stephen J.; Milbury, Lydia A.; Wallace, Gregory L.; Martin, Alex] NIMH, Sect Cognit Neuropsychol, Lab Brain & Cognit, NIH, Bethesda, MD 20892 USA. [Simmons, W. Kyle] Laureate Inst Brain Res, Tulsa, OK 74136 USA. RP Gotts, SJ (reprint author), NIMH, Sect Cognit Neuropsychol, Lab Brain & Cognit, NIH, Bethesda, MD 20892 USA. EM gottss@mail.nih.gov RI Gotts, Stephen/J-4842-2012 FU National Institute of Mental Health, NIH, Division of Intramural Research FX This study was supported by the National Institute of Mental Health, NIH, Division of Intramural Research. 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Neurosciences & Neurology GA 007FG UT WOS:000308873600013 PM 22791801 ER PT J AU Ercan-Sencicek, AG Wright, NRD Frost, SJ Fulbright, RK Felsenfeld, S Hart, L Landi, N Mencl, WE Sanders, SJ Pugh, KR State, MW Grigorenko, EL AF Ercan-Sencicek, A. Gulhan Wright, Nicole R. Davis Frost, Stephen J. Fulbright, Robert K. Felsenfeld, Susan Hart, Lesley Landi, Nicole Mencl, W. Einar Sanders, Stephan J. Pugh, Kenneth R. State, Matthew W. Grigorenko, Elena L. TI Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism SO BRAIN & DEVELOPMENT LA English DT Article DE Language and speech impairment; Potocki-Lupski syndrome; 17p11.2, EFCBP1; inv(8)(q21.3-q24.1) ID DUP(17)(P11.2P11.2); MODEL; GENE AB Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism. (C) Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology. C1 [Ercan-Sencicek, A. Gulhan; Wright, Nicole R. Davis; Sanders, Stephan J.; State, Matthew W.] Yale Univ, Sch Med, Program Neurogenet, New Haven, CT 06520 USA. [Ercan-Sencicek, A. Gulhan; Wright, Nicole R. Davis; Hart, Lesley; Landi, Nicole; Sanders, Stephan J.; State, Matthew W.; Grigorenko, Elena L.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06519 USA. [Ercan-Sencicek, A. Gulhan; Wright, Nicole R. Davis; Sanders, Stephan J.; State, Matthew W.] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA. [Sanders, Stephan J.; State, Matthew W.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06520 USA. [Frost, Stephen J.; Fulbright, Robert K.; Felsenfeld, Susan; Landi, Nicole; Mencl, W. Einar; Pugh, Kenneth R.; Grigorenko, Elena L.] Yale Univ, Sch Med, Haskins Labs, New Haven, CT 06520 USA. Yale Univ, Sch Med, Haskins Labs, New Haven, CT 06520 USA. [Fulbright, Robert K.] Yale Univ, Sch Med, Magnet Resonance Res Ctr, New Haven, CT 06520 USA. [Felsenfeld, Susan] So Connecticut State Univ, Storrs, CT USA. [Pugh, Kenneth R.] Univ Connecticut, Dept Psychol, Storrs, CT USA. [Pugh, Kenneth R.] Yale Univ, Dept Linguist, New Haven, CT 06520 USA. [Pugh, Kenneth R.] Yale Univ, Sch Med, Dept Diagnost Radiol, New Haven, CT 06520 USA. [Grigorenko, Elena L.] Yale Univ, Sch Med, Dept Psychol, New Haven, CT 06520 USA. [Grigorenko, Elena L.] Yale Univ, Sch Med, Dept Epidemiol & Publ Hlth, New Haven, CT 06520 USA. [Grigorenko, Elena L.] Columbia Univ, Teachers Coll, New York, NY 10027 USA. [Grigorenko, Elena L.] Moscow MV Lomonosov State Univ, Dept Psychol, Moscow, Russia. RP State, MW (reprint author), Yale Child Study Ctr, POB 207900, 230 S Frontage Rd, New Haven, CT 06520 USA. EM matthew.state@yale.edu; elena.grigorenko@yale.edu RI Landi, Nicole /P-2954-2014 OI Landi, Nicole /0000-0003-2890-2519 FU Overlook International Foundation (PI State); Shepherd Fund (PI State); US National Institutes of Health, NIH [DC007665, HD048830, P01HD001994, HD052120] FX The preparation of this article was supported by funds from the Overlook International Foundation (PI State), the Shepherd Fund (PI State), and the US National Institutes of Health, NIH (awards DC007665, PI Grigorenko; HD048830, PI Pugh; P01HD001994, PI Fowler; and HD052120, PI Wagner). Grantees undertaking such projects are encouraged to freely express their professional judgment. This article, therefore, does not necessarily represent the position or policies of the NIH and no official endorsement should be inferred. We are thankful to Drs. Elisa Mambrino and Jodi Reich for their contributions to the clinical evaluations of this patient. We are also thankful to Ms. Mei Tan for her editorial assistance. Last, and foremost, we are grateful to the patient's family. 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Manka, Jason Bates, Brittney S. Venable, Daryl F. Rodriguez, Alice L. Jones, Carrie K. Niswender, Colleen M. Conn, P. Jeffrey Lindsley, Craig W. Emmitte, Kyle A. Daniels, J. Scott TI The Role of Aldehyde Oxidase and Xanthine Oxidase in the Biotransformation of a Novel Negative Allosteric Modulator of Metabotropic Glutamate Receptor Subtype 5 SO DRUG METABOLISM AND DISPOSITION LA English DT Article ID IN VIVO CORRELATION; HUMAN LIVER; METABOLISM; VITRO; PHARMACOKINETICS; INHIBITOR; PREDICTION; TOXICITY; HUMANS; ENZYME AB Negative allosteric modulation (NAM) of metabotropic glutamate receptor subtype 5 (mGlu(5)) represents a therapeutic strategy for the treatment of childhood developmental disorders, such as fragile X syndrome and autism. VU0409106 emerged as a lead compound within a biaryl ether series, displaying potent and selective inhibition of mGlu5. Despite its high clearance and short half-life, VU0409106 demonstrated efficacy in rodent models of anxiety after extravascular administration. However, lack of a consistent correlation in rat between in vitro hepatic clearance and in vivo plasma clearance for the biaryl ether series prompted an investigation into the biotransformation of VU0409106 using hepatic subcellular fractions. An in vitro appraisal in rat, monkey, and human liver S9 fractions indicated that the principal pathway was NADPH-independent oxidation to metabolite M1 (+16 Da). Both raloxifene (aldehyde oxidase inhibitor) and allopurinol (xanthine oxidase inhibitor) attenuated the formation of M1, thus implicating the contribution of both molybdenum hydroxylases in the biotransformation of VU0409106. The use of O-18-labeled water in the S9 experiments confirmed the hydroxylase mechanism proposed, because O-18 was incorporated into M1 (+18 Da) as well as in a secondary metabolite (M2; +36 Da), the formation of which was exclusively xanthine oxidase-mediated. This unusual dual and sequential hydroxylase metabolism was confirmed in liver S9 and hepatocytes of multiple species and correlated with in vivo data because M1 and M2 were the principal metabolites detected in rats administered VU0409106. An in vitro-in vivo correlation of predicted hepatic and plasma clearance was subsequently established for VU0409106 in rats and nonhuman primates. C1 [Morrison, Ryan D.; Blobaum, Anna L.; Byers, Frank W.; Santomango, Tammy S.; Bridges, Thomas M.; Brewer, Katrina A.; Felts, Andrew S.; Manka, Jason; Bates, Brittney S.; Venable, Daryl F.; Rodriguez, Alice L.; Jones, Carrie K.; Niswender, Colleen M.; Conn, P. Jeffrey; Lindsley, Craig W.; Emmitte, Kyle A.; Daniels, J. Scott] Vanderbilt Univ, Med Ctr, Vanderbilt Ctr Neurosci Drug Discovery, Nashville, TN 37232 USA. [Stec, Donald] Vanderbilt Univ, Dept Chem, Nashville, TN 37232 USA. [Sanchez-Ponce, Raymundo; Corlew, Melany M.; Rush, Roger] Seaside Therapeut Inc, Preclin Dev, Cambridge, MA USA. RP Daniels, JS (reprint author), Vanderbilt Univ, Med Ctr, Vanderbilt Ctr Neurosci Drug Discovery, Nashville, TN 37232 USA. EM scott.daniels@vanderbilt.edu FU National Institutes of Health National Institute of Mental Health [5-R01-MH62646-13]; National Institutes of Health National Institute of Neurological Disorders and Stroke [2-R01-NS31373-16]; Seaside Therapeutics, Inc. (Cambridge, MA) FX This work was supported by the National Institutes of Health National Institute of Mental Health [Grant 5-R01-MH62646-13]; the National Institutes of Health National Institute of Neurological Disorders and Stroke [2-R01-NS31373-16]; and Seaside Therapeutics, Inc. (Cambridge, MA). 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TI EPILEPTIC ENCEPHALOPATHIES OF THE LANDAU-KLEFFNER AND CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP TYPES: GENOMIC DISSECTION MAKES THE LINK WITH AUTISM SO EPILEPSIA LA English DT Meeting Abstract CT 10th European Congress on Epileptology CY SEP 30-OCT 04, 2012 CL London, ENGLAND C1 [Lesca, G.; Arzimanoglou, A.; Edery, P.; Sanlaville, D.] CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France. [Rudolf, G.; Hirsch, E.; De Saint Martin, A.; Valenti, M.; Boulay, C.] Strasbourg Univ Hosp, Strasbourg, France. [Labalme, A.] Univ Hosp Lyon, Bron, France. [Genton, P.] Henri Gastaut Hosp, Marseille, France. [Motte, J.] Reims Univ Hosp, Amer Mem Hosp, Reims, France. [De Bellescize, J.; Keo-Kosal, P.] Epilepsy Sleep & Pediat Neurophysiol Dpt, Lyon, France. [Boutry-Kryza, N.] Univ Lyon 1, Lyon Univ Hosp, F-69365 Lyon, France. [Szepetowski, P.] Mediterranean Inst Neurobiol INMED, Marseille, France. RI sanlaville, damien/M-4716-2014 OI sanlaville, damien/0000-0001-9939-2849 NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0013-9580 J9 EPILEPSIA JI Epilepsia PD SEP PY 2012 VL 53 SU 5 SI SI BP 92 EP 93 PG 2 WC Clinical Neurology SC Neurosciences & Neurology GA 007GD UT WOS:000308875900316 ER PT J AU Oberman, L Eldaief, M Fecteau, S Ifert-Miller, F Tormos, JM Pascual-Leone, A AF Oberman, Lindsay Eldaief, Mark Fecteau, Shirley Ifert-Miller, Fritz Maria Tormos, Jose Pascual-Leone, Alvaro TI Abnormal modulation of corticospinal excitability in adults with Asperger's syndrome SO EUROPEAN JOURNAL OF NEUROSCIENCE LA English DT Article DE autism spectrum disorders; plasticity; theta burst stimulation; transcranial magnetic stimulation ID TRANSCRANIAL MAGNETIC STIMULATION; THETA-BURST-STIMULATION; AUTISM SPECTRUM DISORDER; HUMAN MOTOR CORTEX; FRAGILE-X-SYNDROME; LANGUAGE DISORDER; POSTURAL CONTROL; CHILDREN; PLASTICITY; PREVALENCE AB Most candidate genes and genetic abnormalities linked to autism spectrum disorders (ASD) are thought to play a role in developmental and experience-dependent plasticity. As a possible index of plasticity, we assessed the modulation of motor corticospinal excitability in individuals with Aspergers syndrome (AS) using transcranial magnetic stimulation (TMS). We measured the modulatory effects of theta-burst stimulation (TBS) on motor evoked potentials (MEPs) induced by single-pulse TMS in individuals with AS as compared with age-, gender- and IQ-matched neurotypical controls. The effect of TBS lasted significantly longer in the AS group. The duration of the TBS-induced modulation alone enabled the reliable classification of a second study cohort of subjects as AS or neurotypical. The alteration in the modulation of corticospinal excitability in AS is thought to reflect aberrant mechanisms of plasticity, and might provide a valuable future diagnostic biomarker for the disease and ultimately offer a target for novel therapeutic interventions. C1 [Oberman, Lindsay; Eldaief, Mark; Fecteau, Shirley; Ifert-Miller, Fritz; Pascual-Leone, Alvaro] Beth Israel Deaconess Med Ctr, Dept Neurol, Berenson Allen Ctr Noninvas Brain Stimulat, Boston, MA 02215 USA. [Oberman, Lindsay; Eldaief, Mark; Fecteau, Shirley; Ifert-Miller, Fritz; Pascual-Leone, Alvaro] Harvard Univ, Sch Med, Boston, MA USA. [Fecteau, Shirley] Univ Laval, Fac Med, Dept Rehabil, Quebec City, PQ G1K 7P4, Canada. [Maria Tormos, Jose; Pascual-Leone, Alvaro] Univ Autonoma Barcelona, Inst Univ Neurorehabil Guttmann, Badalona, Spain. [Pascual-Leone, Alvaro] Beth Israel Deaconess Med Ctr, Harvard Thorndike Clin Res Ctr, Boston, MA 02215 USA. RP Pascual-Leone, A (reprint author), Beth Israel Deaconess Med Ctr, Dept Neurol, Berenson Allen Ctr Noninvas Brain Stimulat, Boston, MA 02215 USA. EM apleone@bidmc.harvard.edu FU National Center for Research Resources: Harvard-Thorndike Clinical Research Center at BIDMC [NCRR MO1 RR01032]; National Center for Research Resources: Harvard Clinical and Translational Science Center [UL1 RR025758]; NIH [K24 RR018875, F32MH080493]; Autism Speaks; Nancy Lurie Marks Family Foundation FX Work on this study was supported by grants from the National Center for Research Resources: Harvard-Thorndike Clinical Research Center at BIDMC (NCRR MO1 RR01032) and Harvard Clinical and Translational Science Center (UL1 RR025758); NIH grant K24 RR018875 and a grants from Autism Speaks and the Nancy Lurie Marks Family Foundation to A.P.-L. L. Oberman was supported by NIH fellowship F32MH080493. We thank Paul Wang, Joseph Gonzalez-Heydrich, Alexander Rotenberg, Jonathan Picker, Albert Galaburda, Mike Greenberg, Christopher Walsh, Shiva Gautam, Murray Mittleman and Carla Shatz for valuable comments on the data and the manuscript and the Boston Autism Consortium for their help with recruitment. The content of this manuscript is solely the responsibility of the authors and does not necessarily represent the official views of the Nancy Lurie Marks Family Foundation, National Center for Research Resources or the National Institutes of Health. 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TI VEP contrast sensitivity responses reveal reduced functional segregation of visual processing channels in autism SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 16th World Congress of Psychophysiology of the International Organization of Psychophysiology (IOP) CY SEP 13-17, 2012 CL Pisa, ITALY SP Int Org Psychophysiol (IOP) C1 [Jemel, B.; Mimeault, D.; Mottron, L.] Hop Riviere Prairies, Montreal, PQ, Canada. [Jemel, B.; Mottron, L.] Univ Montreal, Montreal, PQ, Canada. [Saint-Amour, D.] CHU St Justine Res Ctr, Montreal, PQ, Canada. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0167-8760 J9 INT J PSYCHOPHYSIOL JI Int. J. Psychophysiol. PD SEP PY 2012 VL 85 IS 3 SI SI BP 298 EP 298 DI 10.1016/j.ijpsycho.2012.06.026 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 005XV UT WOS:000308784300028 ER PT J AU Pei, F Baldassi, S Norcia, A AF Pei, F. Baldassi, S. Norcia, A. TI Visual gain control abnormalities in Autism Spectrum Disorders SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 16th World Congress of Psychophysiology of the International Organization of Psychophysiology (IOP) CY SEP 13-17, 2012 CL Pisa, ITALY SP Int Org Psychophysiol (IOP) C1 [Pei, F.; Baldassi, S.; Norcia, A.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA. [Baldassi, S.] Univ Florence, Dept Psychol, Florence, Italy. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0167-8760 J9 INT J PSYCHOPHYSIOL JI Int. J. Psychophysiol. PD SEP PY 2012 VL 85 IS 3 SI SI BP 298 EP 299 DI 10.1016/j.ijpsycho.2012.06.027 PG 2 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 005XV UT WOS:000308784300029 ER PT J AU Clery, H Bruneau, N Roux, S Houy-Durand, E Bonnet-Brilhault, F Gomot, M AF Clery, H. Bruneau, N. Roux, S. Houy-Durand, E. Bonnet-Brilhault, F. Gomot, M. TI Automatic visual change perception through typical development and in autism: An electrophysiological study SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 16th World Congress of Psychophysiology of the International Organization of Psychophysiology (IOP) CY SEP 13-17, 2012 CL Pisa, ITALY SP Int Org Psychophysiol (IOP) C1 [Clery, H.; Bruneau, N.; Roux, S.; Bonnet-Brilhault, F.; Gomot, M.] Univ Tours, CHRU Tours, INSERM, U930,UMR, F-37041 Tours, France. [Houy-Durand, E.] CHRU Tours, Ctr Ressources Autisme, Tours, France. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0167-8760 J9 INT J PSYCHOPHYSIOL JI Int. J. Psychophysiol. PD SEP PY 2012 VL 85 IS 3 SI SI BP 299 EP 299 DI 10.1016/j.ijpsycho.2012.06.028 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 005XV UT WOS:000308784300030 ER PT J AU Lazarev, VV Pontes, A deAzevedo, LC AF Lazarev, V. V. Pontes, A. deAzevedo, L. C. TI Latent alterations in intra- and interhemispheric functional connectivities in childhood autism detected by EEG photic driving coherence SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 16th World Congress of Psychophysiology of the International Organization of Psychophysiology (IOP) CY SEP 13-17, 2012 CL Pisa, ITALY SP Int Org Psychophysiol (IOP) C1 [Lazarev, V. V.; Pontes, A.; deAzevedo, L. C.] Fundacao Oswaldo Cruz, Fernandes Figueira Inst, Rio De Janeiro, Brazil. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0167-8760 J9 INT J PSYCHOPHYSIOL JI Int. J. Psychophysiol. PD SEP PY 2012 VL 85 IS 3 SI SI BP 299 EP 299 DI 10.1016/j.ijpsycho.2012.06.029 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 005XV UT WOS:000308784300031 ER PT J AU Watson, LR Roberts, JE Baranek, GT Yoder, P AF Watson, L. R. Roberts, J. E. Baranek, G. T. Yoder, P. TI Respiratory sinus arrhythmia as a predictor of language outcomes in children with autism SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 16th World Congress of Psychophysiology of the International Organization of Psychophysiology (IOP) CY SEP 13-17, 2012 CL Pisa, ITALY SP Int Org Psychophysiol (IOP) C1 [Watson, L. R.; Baranek, G. T.] Univ N Carolina, Chapel Hill, NC USA. [Roberts, J. E.] Univ S Carolina, Columbia, SC 29208 USA. [Yoder, P.] Vanderbilt Univ, Nashville, TN 37235 USA. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0167-8760 J9 INT J PSYCHOPHYSIOL JI Int. J. Psychophysiol. PD SEP PY 2012 VL 85 IS 3 SI SI BP 348 EP 348 DI 10.1016/j.ijpsycho.2012.06.154 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 005XV UT WOS:000308784300153 ER PT J AU Levine, T AF Levine, T. TI Physiologic arousal to social stress in children with autism spectrum disorders SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 16th World Congress of Psychophysiology of the International Organization of Psychophysiology (IOP) CY SEP 13-17, 2012 CL Pisa, ITALY SP Int Org Psychophysiol (IOP) C1 [Levine, T.] Brown Univ, Brown Ctr Study Children Risk, Warren Alpert Med Sch, Providence, RI 02912 USA. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0167-8760 J9 INT J PSYCHOPHYSIOL JI Int. J. Psychophysiol. PD SEP PY 2012 VL 85 IS 3 SI SI BP 349 EP 349 DI 10.1016/j.ijpsycho.2012.06.156 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 005XV UT WOS:000308784300155 ER PT J AU Martineau, J Hernandez, N Roche, L Bonnet-Brilhault, F AF Martineau, J. Hernandez, N. Roche, L. Bonnet-Brilhault, F. TI Pupil size and pupil reactivity to faces in children with autism spectrum disorders SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Meeting Abstract CT 16th World Congress of Psychophysiology of the International Organization of Psychophysiology (IOP) CY SEP 13-17, 2012 CL Pisa, ITALY SP Int Org Psychophysiol (IOP) C1 [Martineau, J.; Hernandez, N.; Roche, L.; Bonnet-Brilhault, F.] Univ Tours, CHRU Tours, UMR INSERM U930, Tours, France. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0167-8760 J9 INT J PSYCHOPHYSIOL JI Int. J. Psychophysiol. PD SEP PY 2012 VL 85 IS 3 SI SI BP 349 EP 349 DI 10.1016/j.ijpsycho.2012.06.157 PG 1 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 005XV UT WOS:000308784300156 ER PT J AU Lawrence, EJ Dumigan, R Schoenberg, P Mauricio, S Murphy, DG David, AS AF Lawrence, Emma Jane Dumigan, Rachael Schoenberg, Poppy Mauricio, Sierra Murphy, Declan G. David, Anthony S. TI Conditional Reasoning in Asperger's Syndrome and Depersonalization Disorder SO JOURNAL OF NERVOUS AND MENTAL DISEASE LA English DT Article DE Asperger's syndrome; depersonalization; reasoning; emotion; logic ID AUTONOMIC RESPONSE; AUTISM; BEHAVIOR; EMOTION; LOGIC AB Conditional reasoning premises can be systematically manipulated to elicit specific response patterns. This is useful for investigating the reasoning style of people who report clinical symptoms. We administered a standardized conditional reasoning task to 16 participants with a diagnosis of Asperger's syndrome (AS), 16 participants with a diagnosis of depersonalization disorder (DPD), and 32 intelligence-quotient-matched controls. Premises were manipulated for a) context, with some being embedded within extra statements, and b) content, neutral or emotional. Both the AS and DPD participants were less likely to incorporate exceptions to the given premises than the controls, indicating difficulties with mental flexibility, although this effect was less marked in the DPD group. It seems the AS participants were also less influenced than the controls by statements that highlight possible alternative consequences. However, this effect was less robust than that observed with statements detailing exceptions, suggesting it may be because of general problems with executive function rather than difficulties in processing contextual information. We did not observe the expected difference between the DPD participants and the controls when reasoning with emotional premises. Overall, these data suggest that the DPD and AS participants have distinct reasoning styles, which may be of use for interventions based on cognitive change. C1 [Lawrence, Emma Jane; Dumigan, Rachael; Schoenberg, Poppy; Mauricio, Sierra; Murphy, Declan G.; David, Anthony S.] Kings Coll London, Inst Psychiat, London SE5 8AF, England. RP Lawrence, EJ (reprint author), Kings Coll London, Inst Psychiat, POB 68,De Crespigny Pk, London SE5 8AF, England. 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PD SEP PY 2012 VL 200 IS 9 BP 796 EP 800 DI 10.1097/NMD.0b013e318266ba2b PG 5 WC Clinical Neurology; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 003KX UT WOS:000308611500011 PM 22922241 ER PT J AU Davis, RE Williams, M AF Davis, Robert E. Williams, Michael TI Mitochondrial Function and Dysfunction: An Update SO JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS LA English DT Article ID ELECTRON-TRANSPORT CHAIN; AMYOTROPHIC-LATERAL-SCLEROSIS; PERMEABILITY TRANSITION PORE; ALZHEIMERS-DISEASE; AMYLOID-BETA; CARDIOVASCULAR-DISEASE; PHARMACOLOGICAL TARGET; PROTEIN-PRECURSOR; OXIDATIVE STRESS; CYTOCHROME-C AB With the current explosion of knowledge on the role of mitochondrial dysfunction in the genesis of various human disease states, there is an increased interest in targeting mitochondrial processes, pathways, and proteins for drug discovery efforts in cancer and cardiovascular, metabolic, and central nervous system diseases, the latter including autism and neurodegenerative diseases. We provide an update on understanding the central role of the mitochondrion in ATP and reactive oxygen species production and in controlling cell death pathways. C1 [Williams, Michael] Northwestern Univ, Feinberg Sch Med, Dept Mol Pharmacol & Biol Chem, Chicago, IL 60611 USA. [Davis, Robert E.] 3D Pharmaceut Consultants, La Jolla, CA USA. RP Williams, M (reprint author), Northwestern Univ, Feinberg Sch Med, Dept Mol Pharmacol & Biol Chem, Chicago, IL 60611 USA. 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Instead, these changes are the result of a highly evolved, stereotyped, and protein-catalyzed "oxidative shielding" response that all eukaryotes adopt when placed in a chemically or microbially hostile environment. The machinery of oxidative shielding evolved from pathways of innate immunity designed to protect the cell from attack and limit the spread of infection. Both oxidative and reductive stress trigger oxidative shielding. In the cases in which it has been studied explicitly, functional and metabolic defects occur in the cell before the increase in ROS and oxidative changes. ROS are the response to disease, not the cause. Therefore, it is not the oxidative changes that should be targeted for therapy, but rather the metabolic conditions that create them. This fresh perspective is relevant to diseases that range from autism, type 1 diabetes, type 2 diabetes, cancer, heart disease, schizophrenia, Parkinson's disease, and Alzheimer disease. Research efforts need to be redirected. Oxidative shielding is protective and is a misguided target for therapy. Identification of the causal chemistry and environmental factors that trigger innate immunity and metabolic memory that initiate and sustain oxidative shielding is paramount for human health. C1 [Naviaux, Robert K.] Univ Calif San Diego, Sch Med, Mitochondrial & Metab Dis Ctr, Dept Med, San Diego, CA 92103 USA. [Naviaux, Robert K.] Univ Calif San Diego, Dept Pediat, Sch Med, San Diego, CA 92103 USA. [Naviaux, Robert K.] Univ Calif San Diego, Dept Pathol, Sch Med, San Diego, CA 92103 USA. RP Naviaux, RK (reprint author), Univ Calif San Diego, Sch Med, Mitochondrial & Metab Dis Ctr, Dept Med, 214 Dickinson St,Bldg CTF,Rm C102, San Diego, CA 92103 USA. 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Pharmacol. Exp. Ther. PD SEP PY 2012 VL 342 IS 3 BP 608 EP 618 DI 10.1124/jpet.112.192120 PG 11 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 993SH UT WOS:000307879400002 PM 22700427 ER PT J AU Yee, N Schwarting, RKW Fuchs, E Wohr, M AF Yee, Nicole Schwarting, Rainer K. W. Fuchs, Eberhard Woehr, Markus TI Increased affective ultrasonic communication during fear learning in adult male rats exposed to maternal immune activation SO JOURNAL OF PSYCHIATRIC RESEARCH LA English DT Article DE 22-kHz; Ultrasonic vocalizations; Fear conditioning; Poly I:C; Anxiety; Neurodevelopmental disorder ID SOUND CHARACTERISTICS; PRENATAL INFECTION; SPEAKING BEHAVIOR; BRAIN-DEVELOPMENT; SCHIZOPHRENIA; VOCALIZATIONS; CALLS; MICE; SIGNALS; PLAYBACK AB Maternal exposure to infection during pregnancy greatly increases the risk of psychopathology in the offspring. In support of clinical findings, rodent models of maternal immune activation (MIA) show that prenatal exposure to pathogens can induce phenotypic changes in the offspring associated with schizophrenia, autism, depression and anxiety. In the current study, we investigated the effects of MIA via polyinosinic:polycytidylic acid (poly I:C) on emotional behavior and communication in rats. Pregnant rats were administered poly I:C or saline on gestation day 15 and male offspring were tested in an auditory fear conditioning paradigm in early adulthood. We found that prenatal poly I:C exposure significantly altered affective signaling, namely, the production of aversive 22-kHz ultrasonic vocalizations (USVs), in terms of call number, structure and temporal patterning. MIA led to an increase in aversive 22-kHz USVs to 300% of saline controls. Offspring exposed to MIA not only emitted more 22-kHz USVs, but also emitted calls that were shorter in duration and occurred in bouts containing more calls. The production of appetitive 50-kHz USVs and audible calls was not affected. Intriguingly, alterations in aversive 22-kHz USV emission were observed despite no obvious changes in overt defensive behavior, which highlights the importance of assessing USVs as an additional measure of fear. Aversive 22-kHz USVs are a prominent part of the rat's defensive behavioral repertoire and serve important communicative functions, most notably as alarm calls. The observed changes in aversive 22-kHz USVs show that MIA has long-term effects on emotional behavior and communication in exposed rat offspring. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Yee, Nicole; Fuchs, Eberhard] German Primate Ctr, Leibniz Inst Primate Res, Clin Neurobiol Lab, D-37077 Gottingen, Germany. [Schwarting, Rainer K. W.; Woehr, Markus] Univ Marburg, D-35032 Marburg, Germany. [Fuchs, Eberhard] Univ Gottingen, Dept Neurol, Sch Med, D-3400 Gottingen, Germany. RP Yee, N (reprint author), German Primate Ctr, Leibniz Inst Primate Res, Clin Neurobiol Lab, Kellnerweg 4, D-37077 Gottingen, Germany. EM nyee@cnl-dpz.de FU Kurt Lange Stiftung FX The authors wish to thank Cornelia Heckmann, Christina Coenen de Roo and Dennis Bogaert for technical assistance with experiments. Nicole Yee is financially supported by the Kurt Lange Stiftung. 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Mem. PD SEP PY 2012 VL 19 IS 9 BP 434 EP 443 DI 10.1101/lm.025007.111 PG 10 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 011MX UT WOS:000309170200010 PM 22904374 ER PT J AU Oro, AB Briseno, JV Garcia, CAC Sepulveda, RFC Villalobos, AMH Sanchez, CE AF Bravo Oro, A. Vazquez Briseno, J. Cuello Garcia, C. A. Calderon Sepulveda, R. F. Hernandez Villalobos, A. M. Esmer Sanchez, C. TI Early manifestations of autism spectrum disorders. Experience of 393 cases in a paediatric neurology SO NEUROLOGIA LA Spanish DT Article DE Autism spectrum disorders; Language disorders; Autism; Neurodevelopmental delay; Early detection; Epidemiological data ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECIAL NEEDS; PROJECT SNAP; CHILDREN; PREVALENCE; CHILDHOOD; DIAGNOSIS; EPILEPSY AB Introduction: Autism spectrum disorders are group of conditions characterised by qualitative impairments in social communication, interaction, and imagination, and by a restricted range of interests and typical repetitive behaviours. Frequently, there is a delay in the age of detection, and therefore in starting multidisciplinary evaluations and interventions, which may result in a poorer prognosis and reduced quality of life for both children and parents. The aim of our study was to describe clinical and epidemiological data including the age of detection and main initial complaints present in children with autism disorders referred to a paediatric neurology centre. Patients and methods: A total of 393 medical records of consecutive cases diagnosed with an autism spectrum disorder were reviewed. Results: Autism was diagnosed in 82.1% of the cases, unspecified pervasive disorder in 9.9%, Asperger syndrome in 4.8%, and Rett syndrome in 3%. Sixty percent of autistic children presented with a language disorder as their main complaint. The average age of detection was 4 years. Conclusions: Compared with other countries, age of detection is delayed. Primary care-based screening and surveillance are required in order to improve prognosis and quality of life of children with an autism spectrum disorder. (C) 2011 Sociedad Espanola de Neurologia. Published by Elsevier Espana, S.L. All rights reserved. C1 [Bravo Oro, A.] Hosp Cent Dr Ignacio Morones Prieto, Dept Neuropediat, San Luis Potosi, Slp, Mexico. [Vazquez Briseno, J.] Hosp Reg Alta Especialidad Bajio, Dept Neuropediat, Leon, Gto, Mexico. [Cuello Garcia, C. A.] ITESM, Escuela Med, Dept Pediat & Invest Clin, Monterrey, NL, Mexico. [Calderon Sepulveda, R. F.] Ctr Neurol Ninos & Adolescentes CENNA, Dept Neuropediat & Neuropsicol, Monterrey, NL, Mexico. [Hernandez Villalobos, A. M.] Ctr Neurol Ninos & Adolescentes CENNA, Dept Neuropsicol, Monterrey, NL, Mexico. [Esmer Sanchez, C.] Hosp Cent Dr Ignacio Morones Prieto, Dept Genet, San Luis Potosi, Slp, Mexico. RP Oro, AB (reprint author), Hosp Cent Dr Ignacio Morones Prieto, Dept Neuropediat, San Luis Potosi, Slp, Mexico. 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James Leventer, Richard J. Squier, Waney Scheffer, Ingrid E. Parrini, Elena Blaser, Susan Marini, Carla Robertson, Stephen Tortorella, Gaetano Rosenow, Felix Thomas, Pierre McGillivray, George Andermann, Eva Andermann, Frederick Berkovic, Samuel F. Dobyns, William B. Guerrini, Renzo TI Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis SO NEUROLOGY LA English DT Article ID PERIVENTRICULAR NODULAR HETEROTOPIA; CORTICAL DEVELOPMENT; CEREBRAL-CORTEX; MUTATIONS; BRAIN; POLYMICROGYRIA; MALFORMATIONS; MIGRATION; EPILEPSY; GENES AB Objective: To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex. Methods: Observational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain. Results: There were 28 females and 22 males. All were sporadic with the exception of an affected mother and son. Epilepsy occurred in 62%, cerebellar signs in 56%, cognitive impairment in 56%, and autism in 12%. Seventy percent were referred within the 3rd year of life. Imaging revealed a normal cerebral cortex in 76% and abnormal cortical folding in 24%. In all patients the hippocampi were under-rotated and in 10% they merged with the heterotopia. Cerebellar dysgenesis was observed in 84% and a hypoplastic corpus callosum in 60%. There was no gender bias or uneven gender distribution of clinical and anatomic severity. No mutations of FLNA occurred in 33 individuals examined. Heterotopia in the fetal brain revealed cytoarchitectonic characteristics similar to those associated with FLNA mutations; cortical pathology was not typical of polymicrogyria. Cerebellar involvement was more severe and the hippocampi appeared simple and under-rotated. Conclusions: This series delineates a malformation complex in which PNH in the trigones and occipito-temporal horns is associated with hippocampal, corpus callosum, and cerebellar dysgenesis. This subtype of PNH is distinct from classic PNH caused by FLNA mutations. Neurology (R) 2012;79:1244-1251 C1 [Pisano, Tiziana; Parrini, Elena; Marini, Carla; Guerrini, Renzo] Univ Florence, Childrens Hosp A Meyer, Pediat Neurol & Neurogenet Unit, Florence, Italy. [Barkovich, A. James] Univ Calif San Francisco, Dept Radiol, San Francisco, CA USA. [Leventer, Richard J.] Univ Melbourne, Royal Childrens Hosp, Childrens Neurosci Ctr, Murdoch Childrens Res Inst,Dept Paediat, Melbourne, Vic, Australia. [Squier, Waney] John Radcliffe Hosp, Paediat Neurol Unit, Oxford OX3 9DU, England. [Scheffer, Ingrid E.; Berkovic, Samuel F.] Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Melbourne, Vic, Australia. [Scheffer, Ingrid E.] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia. [Blaser, Susan] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada. [Robertson, Stephen] Univ Otago, Dept Paediat & Child Hlth, Dunedin Sch Med, Dunedin, New Zealand. [Tortorella, Gaetano] Univ Hosp Messina, Unit Infantile Neuropsychiat, Dept Med & Surg Pediat, Messina, Italy. [Rosenow, Felix] Univ Marburg, Epilepsy Ctr Hessen, Dept Neurol, UKGM, D-35032 Marburg, Germany. [Thomas, Pierre] Hop Louis Pasteur, Serv Neurol, Unite Fonct EEG Epileptol, F-06002 Nice, France. [McGillivray, George] Royal Childrens Hosp, Murdoch Childrens Res Inst, Genet Hlth Serv Victoria, Melbourne, Vic, Australia. [Andermann, Eva; Andermann, Frederick] McGill Univ, Neurol Hosp & Inst, Montreal, PQ, Canada. [Dobyns, William B.] Seattle Childrens Res Inst Ctr Integrat Brain Res, Seattle, WA USA. [Guerrini, Renzo] Res Inst IRCCS Stella Maris Fdn, Pisa, Italy. RP Guerrini, R (reprint author), Univ Florence, Childrens Hosp A Meyer, Pediat Neurol & Neurogenet Unit, Florence, Italy. EM r.guerrini@meyer.it RI Scheffer, Ingrid/G-1668-2013 OI Scheffer, Ingrid/0000-0002-2311-2174 FU NIH/NINDS; NIH/NIBIB; National Health and Medical Research Council of Australia; Health Research Council of New Zealand; NIH University of Melbourne; Austin Health Medical Research Foundation; Brockhoff Foundation; Perpetual Charitable Trustees; Child Health Research Foundation; Shepherd Foundation FX T. Pisano reports no disclosures. A.J. Barkovich receives research support from NIH/NINDS and NIH/NIBIB. R. Leventer and W. Squier report no disclosures. I. Scheffer has received honoraria from GlaxoSmithKline, UCB, Biocodex, Athena Diagnostics, Janssen-Cilag, and Eli Lilly. She has pending patents entitled: Therapeutic compound: patent number: 61/010176; countries of patent: patent types: application year: 2008. She has received research support from the National Health and Medical Research Council of Australia: Health Research Council of New Zealand, NIH University of Melbourne, Austin Health Medical Research Foundation, Brockhoff Foundation, Perpetual Charitable Trustees, ANZ Trustees, Child Health Research Foundation, and Shepherd Foundation. E. Parrini and S. Blaser report no disclosures. C. Marini has received research support from Sixth Framework Thematic Priority Life sciences, Genomics and Biotechnology for Health, the Italian Ministry of Health and Education, and the Mariani Foundation. S. Robertson and G. Tortorella report no disclosures. F. Rosenow has received Scientific Advisory Boards from UCB, GSK, Pfizer, Eisai, and received honoraria from UCB. G. McGillivray has received honoraria from Roche and works as geneticist at Victorian Clinical Genetics Service. E. Andermann has received honoraria from UCB and has received research support from Sunovion Pharma, UCB, Santhera Pharma, and NINDS/NIH. F. Andermann reports no disclosures relevant to the manuscript. S. Berkovic was in the Scientific Advisory Boards: UCB SV2A. He has received honoraria from UCB. He is one of the inventors listed on a patent held by Bionomics Inc on diagnostic testing of using the SCN1A gene. He receives research support from UCB, Novartis, Sanofi Aventis, National Health, and Medical Research Council of Australia. W. Dobyns receives research support from NIH. R. Guerrini has received honoraria from Biocodex, UCB, Eisai Inc, ValueBox, and EMA (European Medicine Agency). He receives research support from the Italian Ministry of Health, the European Community Sixth Framework Thematic Priority Life Sciences, Genomics and Biotechnology for Health, the Italian Ministry of Education, University and Research, the Tuscany Region, the Telethon Foundation, and the Mariani Foundation. Go to Neurology.org for full disclosures. 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Catani, Marco TI Neuroconnectivity and valproic acid: The myelin hypothesis SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS LA English DT Review DE Valproic acid; Myelination; HDAC inhibitors; Autism; Epilepsy; Cognition; Neuroplasticity; Diffusion imaging ID JUVENILE MYOCLONIC EPILEPSY; MATTER STRUCTURAL INTEGRITY; WHITE-MATTER; ANTIEPILEPTIC DRUGS; COGNITIVE DECLINE; EPIGENETIC CONTROL; BRAIN MYELINATION; PREFRONTAL CORTEX; ALZHEIMER-DISEASE; CHILDREN BORN AB Neuropsychiatric medications that directly alter the epigenome, such as valproic acid, can under certain conditions reactivate critical developmental periods and thus impact adult neuroconnectivity. In animal models valproic acid was shown to inhibit the process of postnatal myelination and to replicate age-dependent decline in remyelination efficiency. The human central nervous system's myelination process, unlike that of non-human primates commonly used in the experimental models, is an intricate heterochronous process that continues well into adult life and which probably underlies later life neurocognitive changes and plasticity. Chronic exposure to valproic acid, especially in patients with epilepsy and neuropsychiatric disorders, may profoundly affect this process and its developmental trajectory. Further studies using novel MRI methods that allow in vivo mapping of myelination trajectories across the lifespan are urgently required to address the potential effects of valproic acid on brain development. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Rosenzweig, Ivana] Royal Brompton Hosp, Acad Unit Sleep, London SW3 6NP, England. [Rosenzweig, Ivana] Royal Brompton Hosp, Dept Psychiat, London SW3 6NP, England. [Vukadinovic, Zoran] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Montefiore Med Ctr, Bronx, NY USA. 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Biobehav. Rev. PD SEP PY 2012 VL 36 IS 8 BP 1848 EP 1856 DI 10.1016/j.neubiorev.2012.05.006 PG 9 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 010MM UT WOS:000309098500004 PM 22652270 ER PT J AU Salafia, C Misra, D Golding, J Platt, C Yampolsky, M Shlakhter, O Ring, S AF Salafia, Carolyn Misra, Dawn Golding, Jean Platt, Craig Yampolsky, Michael Shlakhter, Oleksandr Ring, Sue TI ANALYSIS OF PLACENTAL SHAPE AND CORD INSERTION IN A RELATED COHORT OF FAMILIAL AUTISM, THE EARLI COHORT SO PLACENTA LA English DT Meeting Abstract CT Meeting of the International-Federation-of-Placenta-Associations (IFPA) CY SEP 18-21, 2012 CL Hiroshima, JAPAN SP Int Federat Placenta Assoc (IFPA) C1 [Salafia, Carolyn; Ring, Sue] Placental Analyt LLC, Larchmont, NY USA. [Misra, Dawn] Wayne State Univ, Sch Med, Detroit, MI USA. [Golding, Jean] Univ Bristol, Sch Social & Community Med, Bristol, Avon, England. [Platt, Craig] Univ Hosp Bristol NHS Fdn Trust, Bristol, Avon, England. [Yampolsky, Michael; Shlakhter, Oleksandr] Univ Toronto, Toronto, ON, Canada. RI Platt, Craig/C-5137-2012 NR 0 TC 0 Z9 0 PU W B SAUNDERS CO LTD PI LONDON PA 32 JAMESTOWN RD, LONDON NW1 7BY, ENGLAND SN 0143-4004 J9 PLACENTA JI Placenta PD SEP PY 2012 VL 33 IS 9 BP A16 EP A16 PG 1 WC Developmental Biology; Obstetrics & Gynecology; Reproductive Biology SC Developmental Biology; Obstetrics & Gynecology; Reproductive Biology GA 007NV UT WOS:000308896300045 ER PT J AU Salafia, C Misra, D Golding, J Platt, C Ring, S AF Salafia, Carolyn Misra, Dawn Golding, Jean Platt, Craig Ring, Sue TI CHARACTERIZATION OF PLACENTAL GROWTH AS A BIOMARKER OF AUTISM/ASD RISK SO PLACENTA LA English DT Meeting Abstract CT Meeting of the International-Federation-of-Placenta-Associations (IFPA) CY SEP 18-21, 2012 CL Hiroshima, JAPAN SP Int Federat Placenta Assoc (IFPA) C1 [Salafia, Carolyn; Ring, Sue] Placental Analyt LLC, Larchmont, NY USA. [Misra, Dawn] Wayne State Univ, Sch Med, Detroit, MI USA. [Golding, Jean] Univ Bristol, Sch Social & Community Med, Bristol, Avon, England. [Platt, Craig] Univ Hosp Bristol NHS Fdn Trust, Bristol, Avon, England. RI Platt, Craig/C-5137-2012 NR 0 TC 0 Z9 0 PU W B SAUNDERS CO LTD PI LONDON PA 32 JAMESTOWN RD, LONDON NW1 7BY, ENGLAND SN 0143-4004 J9 PLACENTA JI Placenta PD SEP PY 2012 VL 33 IS 9 BP A16 EP A16 PG 1 WC Developmental Biology; Obstetrics & Gynecology; Reproductive Biology SC Developmental Biology; Obstetrics & Gynecology; Reproductive Biology GA 007NV UT WOS:000308896300044 ER PT J AU Kim, JS Jung, WH Kang, DH Park, JY Jang, JH Choi, JS Choi, CH Kim, J Kwon, JS AF Kim, Joon Shik Jung, Wi Hoon Kang, Do-Hyung Park, Ji-Young Jang, Joon Hwan Choi, Jung-Seok Choi, Chi-Hoon Kim, Jejoong Kwon, Jun Soo TI Changes in Effective Connectivity According to Working Memory Load: An fMRI Study of Face and Location Working Memory Tasks SO PSYCHIATRY INVESTIGATION LA English DT Article DE Face matching; Functional magnetic resonance imaging; Location matching; Structural equation modeling; Working memory ID COORDINATE SPATIAL RELATIONS; FUNCTIONAL INTERACTIONS; PET INVESTIGATIONS; NEURAL SYSTEMS; PATH-ANALYSIS; PARIETAL; CORTEX; OBJECT; AUTISM; BACK AB Objective The functional strategic mechanisms in the brain during performing visuospatial working memory tasks, especially tasks with heavy load, are controversial. We conducted the functional magnetic resonance imaging (fMRI) while sixteen subjects were performing face- and location-matching n-back tasks to examine causal relations within the frontoparietal networks. Methods We applied a sophisticated method, the structural equation modeling (SEM), to the fMRI data. The imaging data were analyzed by extracting the task-related eigenseries using the principal component analysis (PCA) and then by applying a form of data-driven model called the automated search method. Results The SEM analyses revealed a functional shift of network connectivity from the right to the left hemisphere with increasing load in the face-matching n-back tasks while the location-matching tasks required bilateral activation. In the locating matching n-back tasks, a pattern of parallel processing was observed in the left phonological loop and the right inferior parietal regions. Furthermore, object working memory-related activities in the left hemisphere reliably contributed to performance of both the face- and location-matching 2-back tasks. Conclusion Our results are consistent with previous reports in terms of demonstrating parallel and distributed information processing during performing working memory tasks with heavy loads. Our results additionally suggest a dynamic shift between the fast imagery circuit (right hemisphere) and the stable verbal circuit (left hemisphere), depending on task load. Psychiatry Investig 2012;9:283-292 C1 [Kim, Joon Shik; Jung, Wi Hoon; Park, Ji-Young; Kwon, Jun Soo] SNU MRC, Inst Human Behav Med, Seoul, South Korea. [Kang, Do-Hyung; Jang, Joon Hwan; Choi, Jung-Seok; Kwon, Jun Soo] Seoul Natl Univ, Dept Psychiat, Coll Med, Seoul 110744, South Korea. [Choi, Chi-Hoon] Natl Med Ctr, Dept Diagnost Radiol, Seoul, South Korea. [Kim, Jejoong] Duksung Womens Univ, Dept Psychol, Seoul, South Korea. [Kim, Jejoong; Kwon, Jun Soo] Seoul Natl Univ, Dept Brain & Cognit Sci, World Class Univ Program, Coll Nat Sci, Seoul 110744, South Korea. RP Kwon, JS (reprint author), Seoul Natl Univ, Dept Psychiat & Behav Sci, Coll Med, 101 Daehak Ro, Seoul 110744, South Korea. EM kwonjs@snu.ac.kr RI Kwon, Jun Soo/J-2734-2012; Kang, Do-Hyung/J-5358-2012; Park, Ji-Young/C-1331-2015 FU National Research Foundation of Korea (NRF); Ministry of Education, Science and Technology [2009-0074054]; Brain Korea 21 Project FX We thank Yong-Sik Jung and Ji Yeon Han for their technical assistance and data collection, respectively. This work was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2009-0074054). Also, this study was supported by the Brain Korea 21 Project in 2012. CR Arbuckle JL, 2007, AMOS 16 0 USERS GUID Baddeley A, 2003, NAT REV NEUROSCI, V4, P829, DOI 10.1038/nrn1201 Baddeley A. 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PD SEP PY 2012 VL 9 IS 3 BP 283 EP 292 DI 10.4306/pi.2012.9.3.283 PG 10 WC Psychiatry SC Psychiatry GA 009QX UT WOS:000309041400013 PM 22993529 ER PT J AU Rahbar, MH Samms-Vaughan, M Ardjomand-Hessabi, M Loveland, KA Dickerson, AS Chen, ZX Bressler, J Shakespeare-Pellington, S Grove, ML Bloom, K Wirth, J Pearson, DA Boerwinkle, E AF Rahbar, Mohammad H. Samms-Vaughan, Maureen Ardjomand-Hessabi, Manouchehr Loveland, Katherine A. Dickerson, Aisha S. Chen, Zhongxue Bressler, Jan Shakespeare-Pellington, Sydonnie Grove, Megan L. Bloom, Kari Wirth, Julie Pearson, Deborah A. Boerwinkle, Eric TI The role of drinking water sources, consumption of vegetables and seafood in relation to blood arsenic concentrations of Jamaican children with and without Autism Spectrum Disorders SO SCIENCE OF THE TOTAL ENVIRONMENT LA English DT Article DE Arsenic; Autism Spectrum Disorders; Vegetables; Drinking water; Seafood; Jamaica ID NATIVE ANDEAN WOMEN; NORTH-SEA FISH; GASTROINTESTINAL SYMPTOMS; FOOD SELECTIVITY; RISK-ASSESSMENT; EXPOSURE; POPULATION; BANGLADESH; CHINA; HAIR AB Arsenic is a toxic metal with harmful effects on human health, particularly on cognitive function. Autism Spectrum Disorders (ASDs) are lifelong neurodevelopmental and behavioral disorders manifesting in infancy or early childhood. We used data from 130 children between 2 and 8 years (65 pairs of ASD cases with age- and sex-matched control), to compare the mean total blood arsenic concentrations in children with and without ASDs in Kingston, Jamaica. Based on univariable analysis, we observed a significant difference between ASD cases and controls (4.03 mu g/L for cases vs. 4.48 mu g/L for controls. P<0.01). In the final multivariable General Linear Model (GLM), after controlling for car ownership, maternal age, parental education levels, source of drinking water, consumption of "yam, sweet potato, or dasheen", "carrot or pumpkin", "callaloo, broccoli, or pak choi", cabbage, avocado, and the frequency of seafood consumption per week, we did not find a significant association between blood arsenic concentrations and ASD status (4.36 mu g/L for cases vs. 4.65 mu g/L for controls. P=0.23). Likewise, in a separate final multivariable GLM, we found that source of drinking water, eating avocado, and eating "callaloo, broccoli, or pak choi" was significantly associated with higher blood arsenic concentrations (all three P<0.05). Based on our findings, we recommend assessment of arsenic levels in water, fruits, and vegetables, as well as increased awareness among the Jamaican population regarding potential risks for various exposures to arsenic. (C) 2012 Elsevier B.V. All rights reserved. C1 [Rahbar, Mohammad H.] Univ Texas Hlth Sci Ctr Houston, Biostat Epidemiol Res Design Component Ctr Clin &, Sch Publ Hlth, Div Epidemiol Human Genet & Environm Sci, Houston, TX 77030 USA. [Rahbar, Mohammad H.; Ardjomand-Hessabi, Manouchehr; Chen, Zhongxue; Bloom, Kari] Univ Texas Hlth Sci Ctr Houston, Ctr Clin & Translat Sci, Biostat Epidemiol Res Design Core, Houston, TX 77030 USA. [Samms-Vaughan, Maureen; Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child Hlth, Kingston 7, Jamaica. [Loveland, Katherine A.; Pearson, Deborah A.] Univ Texas Hlth Sci Ctr Houston, Sch Med, Dept Psychiat & Behav Sci, Houston, TX 77030 USA. [Loveland, Katherine A.] Univ Texas Hlth Sci Ctr Houston, Ctr Excellence Dev & Psychopathol, Dept Psychiat & Behav Sci, Changing Lives Autism Spectrum Serv Clin, Houston, TX 77030 USA. [Bressler, Jan; Grove, Megan L.; Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Sch Publ Hlth, Houston, TX 77030 USA. [Wirth, Julie] Michigan State Univ, Dept Epidemiol, E Lansing, MI 48824 USA. RP Rahbar, MH (reprint author), Univ Texas Hlth Sci Ctr Houston, Biostat Epidemiol Res Design Component Ctr Clin &, Sch Publ Hlth, Div Epidemiol Human Genet & Environm Sci, 6410 Fannin St,UT Profess Bldg,Suite 1100-05, Houston, TX 77030 USA. EM Mohammad.H.Rahbar@uth.tmc.edu; msamms@cwjamaica.com; Manouchehr.A.Hessabi@uth.tmc.edu; Katherine.A.Loveland@uth.tmc.edu; Aisha.S.Dickerson@uth.tmc.edu; Zhongxue.Chen@uth.tmc.edu; Jan.Bressler@uth.tmc.edu; sydonniesp@gmail.com; Megan.L.Grove@uth.tmc.edu; Kari.Bloom@uth.tmc.edu; wirthj@msu.edu; Deborah.A.Pearson@uth.tmc.edu; Eric.Boerwinkle@uth.tmc.edu RI Chen, Zhongxue/K-1372-2013 OI Chen, Zhongxue/0000-0003-2537-7843 FU Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); National Institutes of Health Fogarty International Center (NIH-FIC) [R21HD057808]; Biostatistics/Epidemiology/Research Design (BERD) component of the Center for Clinical and Translational Sciences (CCTS); NIH Centers for Translational Science Award (NIH CTSA) by the National Center for Research Resources (NCRR) [UL1 RR024148] FX This research is co-funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Institutes of Health Fogarty International Center (NIH-FIC) by a grant [R21HD057808] awarded to the University of Texas Health Science Center at Houston (UTHealth). We also acknowledge the support provided by the Biostatistics/Epidemiology/Research Design (BERD) component of the Center for Clinical and Translational Sciences (CCTS) for this project. CCTS is mainly funded by the NIH Centers for Translational Science Award (NIH CTSA) grant (UL1 RR024148), awarded to the University of Texas Health Science Center at Houston in 2006 by the National Center for Research Resources (NCRR). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NICHD or the NIH-FIC or the NCRR. Finally, we acknowledge contributions by colleagues in the Trace Metals Lab at MDCH for analyzing and storing the blood samples for arsenic concentrations. 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TI Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B SO CLINICAL GENETICS LA English DT Article DE ARID1B; autism spectrum disorder; chromosome 6q25; corpus callosum; intellectual disability; next-generation mate-pair sequencing; speech impairment; translocation ID MICRODELETION SYNDROME; INTERSTITIAL DELETION; AGENESIS; REGION; GENE AB Corpus callosum abnormalities are common brain malformations with a wide clinical spectrum ranging from severe intellectual disability to normal cognitive function. The etiology is expected to be genetic in as much as 30-50% of the cases, but the underlying genetic cause remains unknown in the majority of cases. By next-generation mate-pair sequencing we mapped the chromosomal breakpoints of a patient with a de novo balanced translocation, t(1; 6)(p31; q25), agenesis of corpus callosum (CC), intellectual disability, severe speech impairment, and autism. The chromosome 6 breakpoint truncated ARID1B which was also truncated in a recently published translocation patient with a similar phenotype. Quantitative polymerase chain reaction (Q-PCR) data showed that a primer set proximal to the translocation showed increased expression of ARID1B, whereas primer sets spanning or distal to the translocation showed decreased expression in the patient relative to a non-related control set. Phenotype-genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing ARID1B confirms that haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual disability, severe speech impairment, and autism. Our findings emphasize that ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular. C1 [Halgren, C.; Bak, M.; Hansen, C.; El-Schich, Z.; Anderson, C. M.; Henriksen, K. F.; Tommerup, N.; Bache, I.] Univ Copenhagen, Fac Hlth Sci, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, DK-2200 Copenhagen, Denmark. [Kjaergaard, S.; Kirchhoff, M.] Rigshosp, Univ Copenhagen Hosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark. [Hjalgrim, H.] Klin Born, Copenhagen, Denmark. [Bijlsma, E. K.; Nielsen, M.; den Hollander, N. S.; Ruivenkamp, C. A. L.] Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands. [Isidor, B.; Le Caignec, C.] CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France. [Zannolli, R.] Univ Siena, Dept Pediat, I-53100 Siena, Italy. [Mucciolo, M.; Renieri, A.; Mari, F.] Univ Siena, Dept Biotechnol, I-53100 Siena, Italy. [Anderlid, B-M] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden. [Andrieux, J.] CHRU Lille, Hop Jeanne de Flandre, Inst Med Genet, Lille, France. [Dieux, A.] CHRU Lille, Clin Genet Med, Lille, France. RP Halgren, C (reprint author), Univ Copenhagen, Fac Hlth Sci, Wilhelm Johannsen Ctr Funct Genome Reseach, Dept Cellular & Mol Med, Blegdamsvej 3,24-4-14, DK-2200 Copenhagen, Denmark. EM halgren@sund.ku.dk RI Mari, Francesca/E-7737-2012 OI Mari, Francesca/0000-0003-1992-1654 FU Danish National Research Foundation; Lundbeck Foundation; Telethon Genetic Biobank Network [GTB07001C] FX This work was supported by the Danish National Research Foundation, the Lundbeck Foundation, and 'Cell Lines and DNA Bank of Rett syndrome, X mental retardation and other genetic diseases' (Medical Genetics-Siena) - Telethon Genetic Biobank Network (Project No. GTB07001C to AR). 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To the extent that Euro-American techniques of "unnatural" language instruction developed during the Cold War era have been successful, it is because communicative interactions are broken down into basic components, and would-be language learners are equipped with materials, devices, and habits that make up for their distinct bio/social deficits. Such linguistic equipment can present a challenge to the ideological presumption of a subject inherently gifted with the rudiments of talk, that is, the human as naturally speaking. However, this ideology can reassert itself if the active contribution of unnatural language learners to their technoscientific trials is downplayed. In order to counter this tendency, I propose that speech acts be reimagined as part of a more encompassing semiotic ensemble. C1 SUNY Binghamton, Dept Anthropol, Binghamton, NY 13902 USA. RP Reno, J (reprint author), SUNY Binghamton, Dept Anthropol, Binghamton, NY 13902 USA. 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Anthropol. PD SEP PY 2012 VL 114 IS 3 BP 406 EP 419 DI 10.1111/j.1548-1433.2012.01442.x PG 14 WC Anthropology SC Anthropology GA 999LV UT WOS:000308314900003 ER PT J AU Losh, M Klusek, J Martin, GE Sideris, J Parlier, M Piven, J AF Losh, Molly Klusek, Jessica Martin, Gary E. Sideris, John Parlier, Morgan Piven, Joseph TI Defining Genetically Meaningful Language and Personality Traits in Relatives of Individuals With Fragile X Syndrome and Relatives of Individuals With Autism SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS LA English DT Article DE autism; fragile X syndrome; fragile X premutation; FMR1; language; broad autism phenotype ID FMR1 MESSENGER-RNA; MENTAL-RETARDATION; PREMUTATION CARRIERS; AMYGDALA DYSFUNCTION; PROTEIN EXPRESSION; MULTIPLE-INCIDENCE; IDIOPATHIC AUTISM; SPECTRUM DISORDER; GABA(A) RECEPTOR; YOUNG-CHILDREN AB Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism. Cross-population comparisons of FXS and autism therefore offer a potentially valuable method for refining the range of phenotypes associated with variation in FMR1. This study adopted a broader phenotype approach, focusing on parents who are at increased genetic liability for autism or FXS. Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. The principal personality and language features comprising the broad autism phenotype (i.e., rigid and aloof personality, and particular patterns of pragmatic language use) were assessed among 49 premutation carriers who were mothers of individuals with FXS, 89 mothers of individuals with autism, and 23 mothers of typically developing individuals. Relative to controls, the autism and premutation parent groups showed elevated rates of certain personality and language characteristics of the broad autism phenotype. Findings suggest partially overlapping personality and language profiles among autism and premutation parent groups, with rigid personality style and patterns of pragmatic language use emerging as features most clearly shared between groups. These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype. (C) 2012 Wiley Periodicals, Inc. C1 [Losh, Molly] Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60208 USA. [Klusek, Jessica; Martin, Gary E.] Univ N Carolina, Dept Allied Hlth Sci, Div Speech & Hearing Sci, Chapel Hill, NC 27515 USA. [Klusek, Jessica; Martin, Gary E.; Sideris, John] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC 27515 USA. [Parlier, Morgan; Piven, Joseph] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27515 USA. 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J. Med. Genet. B PD SEP PY 2012 VL 159B IS 6 BP 660 EP 668 DI 10.1002/ajmg.b.32070 PG 9 WC Genetics & Heredity; Psychiatry SC Genetics & Heredity; Psychiatry GA 001WW UT WOS:000308492000005 PM 22693142 ER PT J AU Gau, SSF Liao, HM Hong, CC Chien, WH Chen, CH AF Gau, Susan Shur-Fen Liao, Hsiao-Mei Hong, Chao-Chun Chien, Wei-Hsien Chen, Chia-Hsiang TI Identification of Two Inherited Copy Number Variants in a Male with Autism Supports Two-Hit and Compound Heterozygosity Models of Autism SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS LA English DT Article DE autism; CNV; genetics; two-hit model; compound heterozygosity ID TRANSFER-RNA SYNTHETASE; PROTEIN PHOSPHATASE 2A; SPECTRUM DISORDERS; PSYCHOMETRIC PROPERTIES; CHINESE VERSION; HAN CHINESE; GENETIC SUSCEPTIBILITY; TAIWAN; REPEAT; POU4F3 AB Autism is a childhood-onset neurodevelopmental disorder with complex genetic mechanism underlying its etiology. Recent studies revealed that a few single de novo copy number variants of genomic DNA (copy number variants [CNVs]) are pathogenic and causal in some sporadic cases, adding support to the hypothesis that some sporadic autism might be caused by single rare mutation with large clinical effect. In this study, we report the detection of two novel private CNVs simultaneously in a male patient with autism. These two CNVs include a micro-duplication of similar to 4.5 Mb at chromosome 4q12-13.1 that was transmitted from his mother and a microdeletion of similar to 1.8 Mb at 5q32 that was transmitted from his father. Several genes such as LPHN3, POU4F3, SH3RF2, and TCERG1 mapped to these two regions have psychiatric implications. However, the parents had only mild degree of attention deficit symptoms but did not demonstrate any obvious autistic symptoms or psychopathology. Our findings indicate that each of these two CNVs alone may not be pathogenic enough to cause clinical symptoms in their respective carriers, and hence they can be transmitted within each individual family. However, concomitant presence of these two CNVs might result in the clinical phenotypes of the affected patient reported here. Thus, our report of this family may represent an example to show that two hits of CNV and the presence of compound heterozygosity might be important mechanisms underlying the pathogenesis of autism. (C) 2012 Wiley Periodicals, Inc. C1 [Gau, Susan Shur-Fen; Hong, Chao-Chun; Chen, Chia-Hsiang] Natl Taiwan Univ, Dept Psychiat, Coll Med, Taipei 10764, Taiwan. [Gau, Susan Shur-Fen] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei, Taiwan. [Gau, Susan Shur-Fen] Natl Taiwan Univ, Dept Psychol, Grad Inst Brain & Mind Sci, Taipei 10764, Taiwan. [Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Epidemiol & Prevent Med, Taipei 10764, Taiwan. [Liao, Hsiao-Mei] Natl Tsing Hua Univ, Inst Biotechnol, Hsinchu, Taiwan. [Liao, Hsiao-Mei] Natl Tsing Hua Univ, Grad Program Biotechnol Med, Hsinchu, Taiwan. [Chien, Wei-Hsien] Fu Jen Catholic Univ, Dept Occupat Therapy, Coll Med, New Taipei City, Taiwan. [Chen, Chia-Hsiang] Natl Hlth Res Inst, Div Mental Hlth & Addict Med, Inst Populat Hlth Sci, Zhunan 350, Taiwan. RP Gau, SSF (reprint author), Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, 7 Chung Shan S Rd, Taipei 10002, Taiwan. EM gaushufe@ntu.edu.tw; cchen@nhri.org.tw RI Chen, Chia-Hsiang /E-3939-2010 FU National Science Council [NSC96-3112-B-002-033, NSC97-3112-B-002-009, NSC98-3112-B-002-004, NSC99-3112-B-002-036]; National Taiwan University [10R81918-03]; National Health Research Institutes, Taiwan FX Grant sponsor: National Science Council; Grant numbers: NSC96-3112-B-002-033, NSC97-3112-B-002-009, NSC98-3112-B-002-004, NSC99-3112-B-002-036; Grant sponsor: National Taiwan University; Grant number: 10R81918-03; Grant sponsor: National Health Research Institutes, Taiwan. 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PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 503 EP 505 PG 3 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200001 PM 22917115 ER PT J AU Kinnealey, M Pfeiffer, B Miller, J Roan, C Shoener, R Ellner, ML AF Kinnealey, Moya Pfeiffer, Beth Miller, Jennifer Roan, Cecilia Shoener, Rachel Ellner, Matt L. TI Effect of Classroom Modification on Attention and Engagement of Students With Autism or Dyspraxia SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE apraxias; attention; autistic disorder; environment; learning; sensation ID SPECTRUM DISORDER; YOUNG-CHILDREN; ABNORMALITIES; PERFORMANCE; TASK AB Students with autism display sensory sensitivities to environmental stimuli that affect their attending and engagement in classroom learning activities. The purpose of the study was to determine whether attending of 4 male students, ages 13-20, increased after the installation of sound-absorbing walls and halogen lighting. The multiple single-subject, mixed-method design, AB(B+C), included a 2-wk baseline and two intervention phases: 2 wk after sound-absorbing wall installation using the Owens Corning Basement Finishing System (TM) (Owens Corning, Toledo, OH) and 2 wk after halogen light installation. We calculated nonattending frequencies from videotaped class sessions and used visual analysis to measure within-phase and between-phase characteristics. Results included increased frequency and stability of attending and engagement and improved classroom performance, comfort, and mood. Journaling provided students' perspective on the modifications and reflected overall increased sensory comfort and themes of improved classroom environment, positive emotional response (mood), and improved classroom performance. C1 [Kinnealey, Moya; Pfeiffer, Beth] Temple Univ, Dept Rehabil Sci, Occupat Therapy Program, Philadelphia, PA 19119 USA. [Roan, Cecilia] Gloucester Cty Sch Dist, Sewell, NJ USA. 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J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 511 EP 519 DI 10.5014/ajot.2012.004010 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200003 PM 22917117 ER PT J AU Dunn, W Cox, J Foster, L Mische-Lawson, L Tanquary, J AF Dunn, Winnie Cox, Jane Foster, Lauren Mische-Lawson, Lisa Tanquary, Jennifer TI Impact of a Contextual Intervention on Child Participation and Parent Competence Among Children With Autism Spectrum Disorders: A Pretest-Posttest Repeated-Measures Design SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE activities of daily living; autistic disorder; education; parenting; professional-family relations; sensation; sensory threshold ID INDEX-SHORT FORM; YOUNG-CHILDREN; SENSORY PROFILE; DEVELOPMENTAL DISORDERS; CEREBRAL-PALSY; FAMILIES; STRESS; VALIDITY; THERAPY; PERFORMANCE AB OBJECTIVE. We tested an occupational therapy contextual intervention for improving participation in children with autism spectrum disorders and for developing parental competence. METHOD. Using a repeated-measures pretest-posttest design, we evaluated the effectiveness of a contextually relevant reflective guidance occupational therapy intervention involving three components: authentic activity settings, family's daily routines, and the child's sensory processing patterns (Sensory Profile). We used these components to coach 20 parents in strategies to support their child's participation. Intervention sessions involved reflective discussion with parents to support them in identifying strategies to meet their goals and make joint plans for the coming week. We measured child participation (Canadian Occupational Performance Measure, Goal Attainment Scaling) and parent competence (Parenting Sense of Competence, Parenting Stress Index). RESULTS. Results indicated that parents felt more competent and children significantly increased participation in everyday life, suggesting that this approach is an effective occupational therapy intervention. C1 [Dunn, Winnie] Univ Kansas, Med Ctr, Sch Hlth Profess, Dept Occupat Therapy Educ, Kansas City, KS 66160 USA. RP Dunn, W (reprint author), Univ Kansas, Med Ctr, Sch Hlth Profess, Dept Occupat Therapy Educ, 3033 Robinson Hall,Mailstop 2003,3901 Rainbow Blv, Kansas City, KS 66160 USA. 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D., 2011, EARLY CHILDHOOD COAC Schaaf RC, 2007, AM J OCCUP THER, V61, P239 Shani-Adir A, 2009, PEDIATR DERMATOL, V26, P143, DOI 10.1111/j.1525-1470.2009.00904.x Spagnola M, 2007, INFANT YOUNG CHILD, V20, P284 Tomchek SD, 2007, AM J OCCUP THER, V61, P190 Watling RL, 2001, AM J OCCUP THER, V55, P416 Zaidman-Zait A, 2010, J CHILD PSYCHOL PSYC, V51, P1269, DOI 10.1111/j.1469-7610.2010.02266.x NR 44 TC 9 Z9 9 PU AMER OCCUPATIONAL THERAPY ASSOC, INC PI BETHESDA PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA SN 0272-9490 J9 AM J OCCUP THER JI Am. J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 520 EP 528 DI 10.5014/ajot.2012.004119 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200004 PM 22917118 ER PT J AU Gutman, SA Raphael-Greenfield, EI Rao, AK AF Gutman, Sharon A. Raphael-Greenfield, Emily I. Rao, Ashwini K. TI Effect of a Motor-Based Role-Play Intervention on the Social Behaviors of Adolescents With High-Functioning Autism: Multiple-Baseline Single-Subject Design SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE adolescent; autistic disorder; motor activity; role playing; social behavior ID MIRROR-NEURON SYSTEM; SPECTRUM DISORDERS; ASPERGER SYNDROME; CHILDREN; TEENS AB OBJECTIVE. We examined the effect of a motor-based role-play intervention on the social skills of adolescents with high-functioning autism. METHOD. An ABA multiple-baseline design with three 3-mo phases occurring over 12 mo was used with 7 participants. Frequency of targeted verbal and nonverbal behaviors was tallied in each phase. Frequency data were analyzed using repeated-measures analyses of variance with post hoc comparisons to examine differences in targeted behaviors over the three phases. RESULTS. Three participants completed all three study phases, 2 completed Phase 2, and 2 completed Phase 1. All participants (N = 7) demonstrated improved social skill use in Phase 1. Participants completing Phase 2 (n = 5) further improved social skill use. Additional improvements were observed among participants (n = 3) who completed Phase 3. CONCLUSION. The intervention helped participants improve targeted social skill use. Further testing with larger samples and intervention modifications is warranted. C1 [Gutman, Sharon A.; Raphael-Greenfield, Emily I.] Columbia Univ, Programs Occupat Therapy, New York, NY 10032 USA. [Rao, Ashwini K.] Columbia Univ, Huntingtons Dis Ctr Excellence, Program Phys Therapy, New York, NY 10032 USA. RP Gutman, SA (reprint author), Columbia Univ, Programs Occupat Therapy, 710 W 168th St,NI-8, New York, NY 10032 USA. 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PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 529 EP 537 DI 10.5014/ajot.2012.003756 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200005 PM 22917119 ER PT J AU Koenig, KP Buckley-Reen, A Garg, S AF Koenig, Kristie Patten Buckley-Reen, Anne Garg, Satvika TI Efficacy of the Get Ready to Learn Yoga Program Among Children With Autism Spectrum Disorders: A Pretest-Posttest Control Group Design SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE autistic disorder; child behavior; education, special; program evaluation; yoga ID RISPERIDONE AB Occupational therapists use school-based yoga programs, but these interventions typically lack manualization and evidence from well-designed studies. Using an experimental pretest-posttest control group design, we examined the effectiveness of the Get Ready to Learn (GRTL) classroom yoga program among children with autism spectrum disorders (ASD). The intervention group received the manualized yoga program daily for 16 wk, and the control group engaged in their standard morning routine. We assessed challenging behaviors with standardized measures and behavior coding before and after intervention. We completed a between-groups analysis of variance to assess differences in gain scores on the dependent variables. Students in the GRTL program showed significant decreases (p < .05) in teacher ratings of maladaptive behavior, as measured with the Aberrant Behavior Checklist, compared with the control participants. This study demonstrates that use of daily classroomwide yoga interventions has a significant impact on key classroom behaviors among children with ASD. C1 [Koenig, Kristie Patten; Garg, Satvika] NYU, Dept Occupat Therapy, New York, NY 10012 USA. [Buckley-Reen, Anne] Kids OT PC, Ft Tilden, NY USA. RP Koenig, KP (reprint author), NYU, Dept Occupat Therapy, 35 W 4th St, New York, NY 10012 USA. EM kpk3@nyu.edu CR Aman M., 1994, ABERRANT BEHAV CHECK American Occupational Therapy Association, 2005, AM J OCCUPATIONAL TH, V59, P653, DOI DOI 10.5014/AJOT.59.6.653 Barnes PM, 2008, 12 CDC NAT HLTH STAT Brinkley J, 2007, J AUTISM DEV DISORD, V37, P1949, DOI 10.1007/s10803-006-0327-3 Buckley-Reen A., 2009, GET READY LEARN Centers for Disease Control and Prevention, 2009, MMWR-MORBID MORTAL W, V58, P1 Chan A, 2008, MIND BODY RELAXATION, P165 Chong C. S. M., 2011, J ALTERNATIVE THERAP, V17, P32 Dawson G., 2010, SOCIAL POLICY REPORT, V24, P22 Ehleringer J., 2010, INT J YOGA THERAPY, V20, P131 Ferguson CJ, 2009, PROF PSYCHOL-RES PR, V40, P532, DOI 10.1037/a0015808 Field Tiffany, 2011, Complement Ther Clin Pract, V17, P1, DOI 10.1016/j.ctcp.2010.09.007 Galantino Mary Lou, 2008, Pediatr Phys Ther, V20, P66, DOI 10.1097/PEP.0b013e31815f1208 Goldberg L., 2004, INT J YOGA THERAPY, V14, P68 Harrison L. 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J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 538 EP 546 DI 10.5014/ajot.2012.004390 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200006 PM 22917120 ER PT J AU Schaaf, RC Hunt, J Benevides, T AF Schaaf, Roseann C. Hunt, Joanne Benevides, Teal TI Occupational Therapy Using Sensory Integration to Improve Participation of a Child With Autism: A Case Report SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE activities of daily living; adaptation, psychological; autistic disorder; interpersonal relations; occupational therapy; sensation disorders ID EXPERIENCES QUESTIONNAIRE; SPECTRUM DISORDERS; INTERVENTIONS; FIDELITY AB In this case report, we describe the changes in adaptive behaviors and participation of 1 child with autism during a 10-wk program of intensive occupational therapy using a sensory integrative approach (OT-SI) following a manualized protocol. This case is part of a larger study examining the efficacy of the OT-SI approach. We found improvement in sensory processing, as measured by the Sensory Integration and Praxis Tests, as well as enhanced participation in home, school, and family activities, as indicated on parent-rated goal attainment scales. C1 [Schaaf, Roseann C.; Benevides, Teal] Thomas Jefferson Univ, Dept Occupat Therapy, Jefferson Sch Hlth Profess, Philadelphia, PA 19107 USA. [Schaaf, Roseann C.] Thomas Jefferson Univ, Farber Inst Neurosci, Philadelphia, PA 19107 USA. [Hunt, Joanne] Childrens Specialized Hosp, Mountainside, NJ USA. RP Schaaf, RC (reprint author), Thomas Jefferson Univ, Dept Occupat Therapy, Jefferson Sch Hlth Profess, 901 Walnut St,Room 605, Philadelphia, PA 19107 USA. EM roseann.schaaf@jefferson.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Ayres A. J., 1989, SENSORY INTEGRATION Ayres A. J., 1972, SENSORY INTEGRATION Ayres A. 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C., 2010, SENSORY MOTOR UNPUB Schaaf R. C., 2010, EVIDENCE BASED PRACT, P245 Schaaf RC, 2012, AM J OCCUP THER, V66, P503, DOI 10.5014/ajot.2012.006114 Smith T, 2007, J AUTISM DEV DISORD, V37, P354, DOI 10.1007/s10803-006-0173-3 Sparrow S. S., 2005, VINELAND ADAPTIVE BE Sugai G, 2000, EXCEPTIONALITY, V8, P149 NR 30 TC 7 Z9 8 PU AMER OCCUPATIONAL THERAPY ASSOC, INC PI BETHESDA PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA SN 0272-9490 J9 AM J OCCUP THER JI Am. J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 547 EP 555 DI 10.5014/ajot.2012.004473 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200007 PM 22917121 ER PT J AU Mulligan, S White, BP AF Mulligan, Shelley White, Barbara Prudhomme TI Sensory and Motor Behaviors of Infant Siblings of Children With and Without Autism SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE autistic disorder; early diagnosis; motor activity; sensation; siblings ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDER; DEVELOPMENTAL DISORDERS; MODIFIED CHECKLIST; HOME VIDEOTAPES; YOUNG-CHILDREN; AGE; IDENTIFICATION; DIAGNOSIS; TODDLERS AB We compared the sensory and motor behaviors of typically developing infants with those of infant siblings of children with autism spectrum disorders (ASD), who are considered high risk for the disorder, to explore potential sensory and motor markers for use in early diagnosis of ASD. We compared frequencies of sensory and motor behaviors during 10-min, videotaped, infant-mother play sessions and during 5 min of spoon-feeding between groups of 12-mo-old infants. Data from standardized measures of development, sensory processing, and behaviors commonly associated with ASD were also analyzed descriptively for the high-risk group. The results indicated that high-risk infants demonstrated fewer movement transitions (t [231 = -2.4, p = .03) and less object manipulation (t [23] = -2.4, p = .03) than low-risk infants. The sensory and motor differences found between typical and high-risk infants suggest that early screenings for ASD should include the examination of sensory and motor behaviors. C1 [Mulligan, Shelley; White, Barbara Prudhomme] Univ New Hampshire, Dept Occupat Therapy, Durham, NH 03824 USA. RP Mulligan, S (reprint author), Univ New Hampshire, Dept Occupat Therapy, Hewitt Hall, Durham, NH 03824 USA. 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J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 556 EP 566 DI 10.5014/ajot.2012.004077 PG 11 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200008 PM 22917122 ER PT J AU Chang, MC Parham, LD Blanche, EI Schell, A Chou, CP Dawson, M Clark, F AF Chang, Megan C. Parham, L. Diane Blanche, Erna Imperatore Schell, Anne Chou, Chih-Ping Dawson, Michael Clark, Florence TI Autonomic and Behavioral Responses of Children With Autism to Auditory Stimuli SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE acoustic stimulation; autistic disorder; autonomic nervous system; behavioral symptoms; galvanic skin response; sensation ID SPECTRUM DISORDERS; ADULTS AB OBJECTIVES. We examined whether children with and without autism spectrum disorder (ASD) differ in autonomic activity at rest and in response to auditory stimuli and whether behavioral problems related to sounds in everyday life are associated with autonomic responses to auditory stimuli. METHOD. We measured skin conductance (SC) at rest and in response to auditory stimuli as well as behavioral responses using the Sensory Processing Measure (SPM) Home Form. Participants were 25 children with ASD and 25 typically developing (TD) children, aged 5-12 yr. RESULTS. The ASD group had significantly higher resting SC and stronger SC reactivity to tones than the TD group. Correlations between SC and SPM indicated that more severe auditory behavioral difficulties were associated with higher sympathetic activation at rest and stronger sympathetic reactivity to sound. CONCLUSION. High sympathetic reactivity to sound may underlie the difficult behavioral responses to sound that children with ASD often demonstrate. C1 [Chang, Megan C.] San Jose State Univ, Dept Occupat Therapy, San Jose, CA 95192 USA. [Parham, L. Diane] Univ New Mexico, Dept Pediat, Sch Med, Occupat Therapy Grad Program, Albuquerque, NM 87131 USA. [Blanche, Erna Imperatore] Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, Los Angeles, CA USA. [Schell, Anne] Occidental Coll, Dept Psychol, Los Angeles, CA 90041 USA. [Chou, Chih-Ping] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA. [Dawson, Michael] Univ So Calif, Dept Psychol, Los Angeles, CA 90089 USA. [Clark, Florence] Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, Los Angeles, CA USA. RP Chang, MC (reprint author), San Jose State Univ, Dept Occupat Therapy, 1 Washington Sq, San Jose, CA 95192 USA. 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PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 567 EP 576 DI 10.5014/ajot.2012.004242 PG 10 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200009 PM 22917123 ER PT J AU Flanagan, JE Landa, R Bhat, A Bauman, M AF Flanagan, Joanne E. Landa, Rebecca Bhat, Anjana Bauman, Margaret TI Head Lag in Infants at Risk for Autism: A Preliminary Study SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE autistic disorder; infants; motor skills disorders; postural balance; risk factor ID MUSCLE POWER DEVELOPMENT; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; POSTURAL CONTROL; PRETERM INFANTS; DEVELOPMENTAL DISORDERS; MOTOR DEVELOPMENT; 1ST YEAR; CHILDREN; IDENTIFICATION AB OBJECTIVE. Poor postural control during pull-to-sit is a predictor of developmental disruption in cerebral palsy and preterm populations but has not been examined in infants at risk for autism. We examined the association between head lag during pull-to-sit at age 6 mo and autism risk status. METHOD. High-risk participants were siblings of children with autism. We studied one sample of 40 high-risk infants prospectively from 6-36 mo and obtained diagnostic classifications of autism or no autism. We conducted a subsequent between-group comparison with a new sample of 20 high-risk and 21 low-risk infants. RESULTS. Head lag was significantly associated with autism spectrum disorder at 36 mo (p=.020) and was more frequently observed in high-risk than in low-risk infants (p=.018). CONCLUSION. Head lag with other alterations in early development may be associated with autism risk and may serve as an early indicator of neurodevelopmental disruption. Results have clinical implications for occupational therapists in early intervention practice. C1 [Flanagan, Joanne E.; Landa, Rebecca] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA. [Landa, Rebecca] Johns Hopkins Univ, Sch Med, Baltimore, MD USA. [Bhat, Anjana] Univ Connecticut, Neag Sch Educ, Dept Kinesiol, Storrs, CT USA. [Bauman, Margaret] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Lurie Ctr Autism, Cambridge, MA 02138 USA. [Bauman, Margaret] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Dept Pediat & Neurol, Cambridge, MA 02138 USA. RP Flanagan, JE (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA. 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PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 577 EP 585 DI 10.5014/ajot.2012.004192 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200010 PM 22917124 ER PT J AU O'Donnell, S Deitz, J Kartin, D Nalty, T Dawson, G AF O'Donnell, Shelley Deitz, Jean Kartin, Deborah Nalty, Theresa Dawson, Geraldine TI Sensory Processing, Problem Behavior, Adaptive Behavior, and Cognition in Preschool Children With Autism Spectrum Disorders SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE adaptation, psychological; autistic disorder; child development disorders, pervasive; behavior; sensation disorders ID DEVELOPMENTAL DISORDERS; REPETITIVE BEHAVIORS; YOUNG-CHILDREN; SYMPTOMS; ABNORMALITIES; INDIVIDUALS; TODDLERS; PROFILE AB OBJECTIVE. This retrospective study explored sensory processing characteristics in preschool-age children with autism spectrum disorders (ASD); the relationships between sensory processing and problem behavior, adaptive behavior, and cognitive function; and the differences in sensory processing between two subgroups (autism and pervasive developmental disorder not otherwise specified). METHOD. Study measures included the Short Sensory Profile (SSP), Aberrant Behavior Checklist-Community, Vineland Adaptive Behavior Scales, and Mullen Scales of Early Learning. RESULTS. Most of the children with ASD had sensory processing challenges, and a significant relationship was found between SSP total scores and problem behavior scores; however, no significant relationships were found between SSP total scores and adaptive behavior and cognitive functioning. Although all the children had low Vineland scores, approximately one-quarter of the children had typical SSP scores. No significant differences in SSP scores were found between the subgroups. CONCLUSION. The findings highlight the importance of comprehensive evaluations for children with ASD. C1 [O'Donnell, Shelley] Seattle Therapy Serv, Seattle, WA 98102 USA. [Deitz, Jean; Kartin, Deborah] Univ Washington, Dept Rehabil Med, Seattle, WA 98195 USA. [O'Donnell, Shelley; Nalty, Theresa] Univ Washington, Autism Ctr, Seattle, WA USA. [Dawson, Geraldine] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. RP O'Donnell, S (reprint author), Seattle Therapy Serv, 2517 Eastlake Ave E,Suite 102, Seattle, WA 98102 USA. EM shelley@seattleot.com CR Aman M., 1986, ABERRANT BEHAV CHECK Aman M., 1994, ABERRANT BEHAV CHECK American Occupational Therapy Association, 2008, AM J OCCUPATIONAL TH, V62, P625, DOI [10.5014/ajot.62.6.625, DOI 10.5014/AJOT.62.6.625] American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Baker AEZ, 2008, J AUTISM DEV DISORD, V38, P867, DOI 10.1007/s10803-007-0459-0 Bayley N., 1969, BAYLEY SCALES INFANT Ben-Sasson A, 2009, J AUTISM DEV DISORD, V39, P1, DOI 10.1007/s10803-008-0593-3 Ben-Sasson A, 2008, J CHILD PSYCHOL PSYC, V49, P817, DOI 10.1111/j.1469-7610.2008.01899.x Centers for Disease Control and Prevention, 2009, MMWR-MORBID MORTAL W, V58, P1 Chen YH, 2009, J AUTISM DEV DISORD, V39, P635, DOI 10.1007/s10803-008-0663-6 DAHLGREN SO, 1989, EUR ARCH PSY CLIN N, V238, P169 Dawson G, 2000, J AUTISM DEV DISORD, V30, P415, DOI 10.1023/A:1005547422749 Dunn W, 1999, SENSORY PROFILE USER Dunn W, 2002, AM J OCCUP THER, V56, P97 Gabriels RL, 2005, RES DEV DISABIL, V26, P169, DOI 10.1016/j.ridd.2004.05.003 Green VA, 2005, RES DEV DISABIL, V26, P47, DOI 10.1016/j.ridd.2004.07.003 Huebner R.A., 2001, AUTISM SENSORIMOTOR Jasmin E, 2009, J AUTISM DEV DISORD, V39, P231, DOI 10.1007/s10803-008-0617-z Kern JK, 2006, AUTISM, V10, P480, DOI 10.1177/1362361306066564 Kientz MA, 1997, AM J OCCUP THER, V51, P530 Lane AE, 2010, J AUTISM DEV DISORD, V40, P112, DOI 10.1007/s10803-009-0840-2 Liss M, 2006, AUTISM, V10, P155, DOI 10.1177/1362361306062021 Lord C., 1999, AUTISM DIAGNOSTIC OB LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Lord C, 1995, J CHILD PSYCHOL PSYC, V36, P1365, DOI 10.1111/j.1469-7610.1995.tb01669.x McIntosh D. N., 1999, SENSORY PROFILE EXAM, P59 Miller LJ, 2000, SENSORY INTEGRATION, V23, P1 Miller LJ, 1999, AM J MED GENET, V83, P268, DOI 10.1002/(SICI)1096-8628(19990402)83:4<268::AID-AJMG7>3.3.CO;2-B Mullen E, 1995, MULLEN SCALES EARLY Rogers SJ, 2003, J AUTISM DEV DISORD, V33, P631, DOI 10.1023/B:JADD.0000006000.38991.a7 Schoen Sarah A, 2009, Front Integr Neurosci, V3, P29, DOI 10.3389/neuro.07.029.2009 Sigafoos J., 1997, BRIT J LEARNING DISA, V25, P13 Sparrow S, 1984, VINELAND ADAPTIVE BE Watling RL, 2001, AM J OCCUP THER, V55, P416 Wiggins LD, 2009, J AUTISM DEV DISORD, V39, P1087, DOI 10.1007/s10803-009-0711-x NR 36 TC 9 Z9 9 PU AMER OCCUPATIONAL THERAPY ASSOC, INC PI BETHESDA PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA SN 0272-9490 J9 AM J OCCUP THER JI Am. J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 586 EP 594 DI 10.5014/ajot.2012.004168 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200011 PM 22917125 ER PT J AU Lane, SJ Reynolds, S Dumenci, L AF Lane, Shelly J. Reynolds, Stacey Dumenci, Levent TI Sensory Overresponsivity and Anxiety in Typically Developing Children and Children With Autism and Attention Deficit Hyperactivity Disorder: Cause or Coexistence? SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE anxiety; attention deficit disorder with hyperactivity; autistic disorder; sensation disorders ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; OVER-RESPONSIVITY; ADHD; MODULATION; ABNORMALITIES; ADOLESCENTS; DEPRESSION AB OBJECTIVE. To explore the relationship between sensory overresponsivity (SOR) and anxiety in children with autism, attention deficit hyperactivity disorder, and typical development. METHOD. Path analysis was used to examine the primary SOR model (Green & Ben-Sasson, 2010) using both physiological and behavioral data. RESULTS. The magnitude of physiological responses to sensory challenge was a mediator variable between predictors (baseline arousal and attention) and outcomes (anxiety and physiological recovery). Behavioral SOR was correlated with anxiety but not with physiological variables. CONCLUSION. The intensity or magnitude of sensory responsivity mediates the relationship between baseline arousal and attention and outcome anxiety and physiologic recovery from sensory challenge. Behavioral tools used to measure SOR do not reflect physiological responsiveness; this mismatch warrants further investigation. SOR can prevent children from participating in the occupations of childhood; the greater the understanding of SOR, the more successful occupational therapy practitioners will be in developing effective interventions. C1 [Lane, Shelly J.; Reynolds, Stacey] Virginia Commonwealth Univ, Sch Allied Hlth Profess, Dept Occupat Therapy, Richmond, VA 23219 USA. [Reynolds, Stacey] Univ Florida, Sch Publ Hlth & Hlth Profess, Dept Occupat Therapy, Gainesville, FL USA. [Dumenci, Levent] Virginia Commonwealth Univ, Sch Med, Dept Social & Behav Hlth, Richmond, VA 23219 USA. RP Lane, SJ (reprint author), Virginia Commonwealth Univ, Sch Allied Hlth Profess, Dept Occupat Therapy, 730 E Broad St,Suite 2050, Richmond, VA 23219 USA. EM sjlane@vcu.edu CR Abikoff H. B., 2002, J ABNORM PSYCHOL, V30, P1 ACHENBACH TM, 1987, PSYCHOL BULL, V101, P213, DOI 10.1037/0033-2909.101.2.213 Ayres A. 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S., 1921, J AGR RES, V20, P557 Yochman A, 2004, AM J OCCUP THER, V58, P294 NR 54 TC 8 Z9 8 PU AMER OCCUPATIONAL THERAPY ASSOC, INC PI BETHESDA PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA SN 0272-9490 J9 AM J OCCUP THER JI Am. J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 595 EP 603 DI 10.5014/ajot.2012.004523 PG 9 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200012 PM 22917126 ER PT J AU Kao, YC Kramer, JM Liljenquist, K Tian, F Coster, WJ AF Kao, Ying-Chia Kramer, Jessica M. Liljenquist, Kendra Tian, Feng Coster, Wendy J. TI Comparing the Functional Performance of Children and Youths With Autism, Developmental Disabilities, and No Disability Using the Revised Pediatric Evaluation of Disability Inventory Item Banks SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE activities of daily living; adaptation, psychological; autistic disorder; developmental disabilities; disability evaluation ID ADAPTIVE-BEHAVIOR; PEDI-CAT; SPECTRUM DISORDERS; ADOLESCENTS; IQ AB OBJECTIVE. We compared the functional performance of children with autism spectrum disorders (ASD), intellectual and developmental disabilities (IDD), and without disabilities using the revised Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT) Social/Cognitive, Daily Activities, and Responsibility domains. METHOD. A nationally representative sample of parents of children ages 0-21 without disabilities (n = 2,205), with ASD (n = 108), or with IDD (ri = 150) completed an online survey. We obtained predicted PEDI CAT scaled scores for three reference ages (5, 10, 15) from a modified analysis of covariance model and compared each group's scores using contrasts of the regression parameters. RESULTS. We found no significant differences between the ASD and IDD groups. The group with ASD demonstrated significantly lower performance than the group without disabilities across the three domains at ages 10 and 15. CONCLUSION. Scores on the PEDI CAT differentiated the group with ASD from the group without disabilities. Children with ASD and IDD did not demonstrate different performance profiles. C1 [Kao, Ying-Chia; Liljenquist, Kendra] Boston Univ, Dept Occupat Therapy, Doctoral Program Rehabil Sci, Boston, MA 02215 USA. [Tian, Feng] Boston Univ, Hlth & Disabil Res Inst, Sch Publ Hlth, Boston, MA 02215 USA. RP Kao, YC (reprint author), Boston Univ, Dept Occupat Therapy, Doctoral Program Rehabil Sci, 635 Commonwealth Ave,SAR 552, Boston, MA 02215 USA. EM yckao@bu.edu CR Aiken L, 1991, MULTIPLE REGRESSION Ben Itzchak E, 2011, RES AUTISM SPECT DIS, V5, P345, DOI 10.1016/j.rasd.2010.04.018 Carpentieri S, 1996, J AUTISM DEV DISORD, V26, P611, DOI 10.1007/BF02172350 de Bildt A, 2005, J INTELL DISABIL RES, V49, P672, DOI 10.1111/j.1365-2788.2005.00711.x Dumas H, 2010, PHYS OCCUP THER PEDI, V30, P168, DOI 10.3109/01942631003640493 Dumas HM, 2012, DISABIL REHABIL, V34, P393, DOI 10.3109/09638288.2011.607217 Fenton G, 2003, AUTISM, V7, P269, DOI 10.1177/1362361303007003004 Fisch GS, 2002, J AUTISM DEV DISORD, V32, P107, DOI 10.1023/A:1014888505185 Gabriels RL, 2007, RES AUTISM SPECT DIS, V1, P291, DOI 10.1016/j.rasd.2006.11.004 Gleason K., J INTELLECTUAL DEV D Haley SM, 2011, DEV MED CHILD NEUROL, V53, P1100, DOI 10.1111/j.1469-8749.2011.04107.x Haley SM, 2012, PEDI CAT DEV STANDAR Kleinbaum D, 1998, APPL REGRESSION ANAL, V3rd Kramer JM, 2012, PHYS OCCUP THER PEDI, V32, P34, DOI 10.3109/01942638.2011.606260 Liss M, 2001, J AUTISM DEV DISORD, V31, P219, DOI 10.1023/A:1010707417274 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Mawhood L, 2000, J CHILD PSYCHOL PSYC, V41, P547, DOI 10.1017/S002196309900579X McGovern CW, 2005, J CHILD PSYCHOL PSYC, V46, P401, DOI 10.1111/j.1469-7610.2004.00361.x Perry A, 2009, J AUTISM DEV DISORD, V39, P1066, DOI 10.1007/s10803-009-0704-9 Piven J, 1996, J AM ACAD CHILD PSY, V35, P523, DOI 10.1097/00004583-199604000-00019 SCHATZ J, 1995, J AUTISM DEV DISORD, V25, P51, DOI 10.1007/BF02178167 Sparrow SS, 2005, VINELAND ADAPTIVE BE Stone WL, 1999, AM J MENT RETARD, V104, P187, DOI 10.1352/0895-8017(1999)104<0187:POABIV>2.0.CO;2 World Health Organization, 2008, INT CLASS FUNCT DIS NR 24 TC 4 Z9 4 PU AMER OCCUPATIONAL THERAPY ASSOC, INC PI BETHESDA PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA SN 0272-9490 J9 AM J OCCUP THER JI Am. J. Occup. Ther. PD SEP-OCT PY 2012 VL 66 IS 5 SI SI BP 607 EP 616 DI 10.5014/ajot.2012.004218 PG 10 WC Rehabilitation SC Rehabilitation GA 006RJ UT WOS:000308836200013 PM 22917127 ER PT J AU Honaker, D Rosello, SS Candler, C AF Honaker, DeLana Rosello, Stacy Sue Candler, Catherine TI Test-Retest Reliability of Family LIFE (Looking Into Family Experiences): An Occupation-Based Assessment SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE activities of daily living; autistic disorder; family relations; human activities; reproducibility of results; social participation ID CONTEMPORARY PRACTICE; HOLISTIC APPROACH; ADAPTATION; CHILD AB OBJECTIVE. We examined the test-retest reliability of Family L.I.F.E. (Looking Into Family Experiences) for consistency in identifying occupations desired by families with a child with autism spectrum disorder (ASD), and we compared the perceived efficiency, effectiveness, and satisfaction ratings of those occupations for the families. METHOD. Family L.I.F.E. was administered initially and 1 wk later via interview to 13 families with a child with ASD. RESULTS. Ninety-two percent of the families identified the same occupations as important at test and retest. Wilcoxon signed-rank test indicated no change in the families' perceived efficiency and effectiveness of those occupations, and Spearman's correlations indicated strong relationships. A decrease in satisfaction was noted. CONCLUSION. For families with a child with ASD, desired family occupations and efficiency and effectiveness ratings are likely to remain consistent and are highly linked on retest using Family L.I.F.E. At second interview using this instrument, families with a child with ASD may report decreased satisfaction in desired family occupations. C1 [Rosello, Stacy Sue] Embrace Child Ltd, Pittsburgh, PA USA. [Candler, Catherine] Texas Womans Univ, Sch Occupat Therapy, Dallas, TX USA. RP Honaker, D (reprint author), 4304 Mesa Circle, Amarillo, TX 79109 USA. EM delanah@delanah.com CR American Occupational Therapy Association, 2008, AM J OCCUPATIONAL TH, V62, P625, DOI [10.5014/ajot.62.6.625, DOI 10.5014/AJOT.62.6.625] Case-Smith J, 2004, AM J OCCUP THER, V58, P551 Cup EHC, 2003, CLIN REHABIL, V17, P402, DOI 10.1191/0269215503cr635oa DeGrace BW, 2004, AM J OCCUP THER, V58, P543 DeLizzio A., 2008, THESIS VIRGINIA COMM Dunst C. 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Bodison, Stefanie TI Proprioceptive Processing Difficulties Among Children With Autism Spectrum Disorders and Developmental Disabilities SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE autistic disorder; developmental disabilities; feedback, sensory; proprioception; somatosensory disorders ID EXPERIENCES; DEFICIT AB OBJECTIVE. Sensory processing difficulties among children with autism spectrum disorders (ASD) have been extensively documented. However, less is known about this population's ability to process proprioceptive information. METHOD. We used the Comprehensive Observations of Proprioception (COP; Blanche, Bodison, Chang, & Reinoso, in press) to describe the proprioceptive difficulties experienced by children with ASD. A sample of 32 children with ASD, 26 children with developmental disabilities excluding ASD, and 28 typically developing control children were studied using the COP. RESULTS. Children with ASD present with proprioceptive processing difficulties that are different from those of children with developmental disabilities and their typically developing counterparts. Specific data, potential clinical applications, and directions for future research are described. CONCLUSION. Results suggest that the COP has useful clinical research applications. Further assessment of psychometric properties, clinical utility, and meaningful differences among diverse clinical populations are needed. C1 [Blanche, Erna Imperatore] Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA. [Reinoso, Gustavo] Adv Therapy Syst, Dundalk, County Louth, Ireland. [Chang, Megan C.] San Jose State Univ, Dept Occupat Therapy, San Jose, CA 95192 USA. [Bodison, Stefanie] Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA USA. RP Blanche, EI (reprint author), Univ So Calif, Div Occupat Sci & Occupat Therapy, 1540 Alcazar,CHP-133, Los Angeles, CA 90089 USA. 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Schang, A. -L. Favrais, G. Fleiss, B. Gressens, P. TI Long-term cerebral effects of perinatal inflammation SO ARCHIVES DE PEDIATRIE LA French DT Article ID TRAUMATIC BRAIN-INJURY; PROGRAMMED CELL-DEATH; BIRTH-WEIGHT INFANTS; WHITE-MATTER INJURY; SYSTEMIC INFLAMMATION; DEVELOPMENTAL REGULATION; MICROGLIAL ACTIVATION; HYPOXIA-ISCHEMIA; IMMATURE BRAIN; PRETERM AB Perinatal inflammation can lead to fetal/neonatal inflammatory syndrome, a risk factor for brain lesions, especially in the white matter. Perinatal inflammation is associated with increased incidence of cerebral palsy in humans and animal models and there is a strong relationship with increased incidence of autism and schizophrenia in humans. Perinatal inflammation causes acute microglial and astroglial activation, blood-brain barrier dysfunction, and disrupts oligodendrocyte maturation leading to hypomyelination. Inflammation also sensitizes the brain to additional perinatal insults, including hypoxia-ischemia. Furthermore, long after the primary cause of inflammation has resolved, gliosis may also persist and predispose to neurodegenerative diseases including Alzheimer's and Parkinson's disease, but this relation is still hypothetical. Finding of acute and chronic changes in brain structure and function due to perinatal inflammation highlights the need for treatments. As gliosis appears to be involved in the acute and chronic effects of perinatal inflammation, modulating the glial phenotype may be an effective strategy to prevent damage to the brain. (c) 2012 Published by Elsevier Masson SAS. C1 [Chhor, V.; Schang, A. -L.; Fleiss, B.; Gressens, P.] Hop Robert Debre, Inserm U676, F-75019 Paris, France. [Chhor, V.; Schang, A. -L.; Fleiss, B.; Gressens, P.] Univ Paris 07, Fac Med Denis Diderot, F-75205 Paris 13, France. [Chhor, V.; Schang, A. -L.; Fleiss, B.; Gressens, P.] PremUP, F-75006 Paris, France. [Favrais, G.] Univ Tours, Hop Clocheville, CHRU Tours, F-37000 Tours, France. 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Pediatr. PD SEP PY 2012 VL 19 IS 9 BP 946 EP 952 DI 10.1016/j.arcped.2012.06.013 PG 7 WC Pediatrics SC Pediatrics GA 002FD UT WOS:000308516500010 PM 22885003 ER PT J AU Ouss-Ryngaert, L Alvarez, L Boissel, A AF Ouss-Ryngaert, L. Alvarez, L. Boissel, A. TI Autism and prematurity: State of the art SO ARCHIVES DE PEDIATRIE LA French DT Article ID LOW-BIRTH-WEIGHT; PRETERM INFANTS; CHILDREN BORN; SPECTRUM DISORDER; RISK-FACTORS; PREVALENCE; AGE; BEHAVIOR; OUTCOMES; CONSEQUENCES AB Research has shown a high rate of autism spectrum disorders among very low birth weight children over the past decade. This paper proposes a literature review on this topic. Two generations of research have followed one another. The first retrospective studies found a high rate of ASD among premature babies. The second generation of prospective studies underlined and relativized this risk. Prospective research using screening tools (M-CHAT) have found around 20 % ASD, whereas 2 studies assessing the actual diagnosis found 5 % and 8 % ASD, 10 to 12 times more than in the general population. A number of hypotheses have been put forward to explain these high rates of ASD: sensory impairment associated with prematurity, white matter abnormalities, and cerebellar impairment. The authors propose complex models that take into account neurological deficits and the effects of perinatal events on interactive dynamics between infants and their caregivers. These models aim to allow suitable prevention and care for premature children with autism, a heavy additional handicap. (C) 2012 Published by Elsevier Masson SAS. C1 [Ouss-Ryngaert, L.] Hop Necker Enfants Malad, Serv Neuropediat, F-75015 Paris, France. [Alvarez, L.] IPP, Serv Pedopsychiat, Paris, France. [Boissel, A.] Univ Caen, Lab CERRReV, F-14032 Caen, France. 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Structural equation models indicate that sensory reactive children appear to be less social (i.e. prosocial and friendly), more likely to engage in solitary-active play behaviour, and more prone to utilize instrumental aggression in peer interactions. Children scoring high on novelty awareness tend to be more social (i.e. prosocial, friendly, and control impulses), better able to appropriately and punctually comply with tasks given by teacher, less likely to engage in a number of solitary play behaviours (i.e. solitary passive and solitary active), less likely to utilize instrumental or reactive aggressive strategies, and more likely to dodge negative peer interactions by avoiding bullies. Furthermore, the associations between sensory reactivity/novelty awareness and children's behaviours differ from those of other dimensions of temperament (i.e. activity level and emotionality). 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CA Eunice Kennedy Shriver Natl Inst C TI Screening for Autism Spectrum Disorders in Extremely Preterm Infants SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE autism; prematurity; screening ID BIRTH-WEIGHT; RISK-FACTORS; CHILDREN; OUTCOMES AB Background: Extremely preterm(EP) infants screen positive for autism spectrum disorders (ASD) at high rates. However, it is not clear whether this is because of high rates of ASD in EPs or to high rates of false-positive screens for ASD in children with a high rate of underlying neurodevelopmental impairments. Combining a parent questionnaire designed to distinguish developmental delay from ASD with direct observation of infant behavior may more accurately screen for ASD in EPs. Objectives: To determine rates of positive screen for ASD at 18 to 22 months(m) in EPs using 3 screens; to determine factors associated with a positive screen. Methods: Five hundred fifty-four infants born <27 weeks were screened at 18 to 22 m using the Pervasive Developmental Disorders Screening test, second edition Stage 2, and the response to name and response to joint attention items from the Autism Diagnostic Observation Schedule. Infants with severe cerebral palsy, deafness, and blindness were excluded. Associations between positive screen and neonatal/ infant characteristics were determined. Results: Of 554 infants, 113 (20%) had >= 1 positive screen. 10% had a positive Pervasive Developmental Disorders Screening test, second edition, 6% response to name, 9% response to joint attention; in only 1 % all 3 screens were positive. Positive screen was associated with male gender, more hospital days, white race, lower maternal education, abnormal behavioral scores, and cognitive/ language delay. Conclusions: The use of 3 screens for ASD in EPs results in higher screen positive rates than use of 1 screen alone. Diagnostic confirmation is needed before true rates of ASD in EPs are known. (J Dev Behav Pediatr 33:535-541, 2012) C1 [Stephens, Bonnie E.; Watson, Victoria E.; Vohr, Betty R.] Brown Univ, Women & Infants Hosp, Dept Pediat, Providence, RI 02905 USA. [Bann, Carla M.] RTI Int, Stat & Epidemiol Unit, Res Triangle Pk, NC USA. [Sheinkopf, Stephen J.] Brown Univ, Women & Infants Hosp, Dept Psychiat & Human Behav, Ctr Study Children Risk,Brown Alpert Med Sch, Providence, RI USA. [Peralta-Carcelen, Myriam] Univ Alabama Birmingham, Div Neonatol, Birmingham, AL USA. [Bodnar, Anna] Univ Utah, Sch Med, Dept Pediat, Div Neonatol, Salt Lake City, UT USA. [Yolton, Kimberly] Univ Cincinnati, Dept Pediat, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45221 USA. [Goldstein, Ricki F.] Duke Univ, Dept Pediat, Durham, NC 27706 USA. [Dusick, Anna M.] Indiana Univ Sch Med, Dept Pediat, Indianapolis, IN USA. [Wilson-Costello, Deanne E.] Case Western Reserve Univ, Rainbow Babies & Childrens Hosp, Dept Pediat, Cleveland, OH 44106 USA. [Acarregui, Michael J.] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA. [Pappas, Athina] Wayne State Univ, Dept Pediat, Detroit, MI 48202 USA. [Adams-Chapman, Ira] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA USA. [Adams-Chapman, Ira] Childrens Healthcare Atlanta, Atlanta, GA USA. [McGowan, Elisabeth C.] Floating Hosp Children, Tufts Med Ctr, Dept Pediat, Div Newborn Med, Boston, MA USA. [Heyne, Roy J.] Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA. [Hintz, Susan R.] Stanford Univ, Sch Med, Dept Pediat, Palo Alto, CA 94304 USA. [Ehrenkranz, Richard A.] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06510 USA. [Fuller, Janell] Univ New Mexico, Hlth Sci Ctr, Albuquerque, NM 87131 USA. [Das, Abhik] RTI Int, Stat & Epidemiol Unit, Rockville, MD USA. [Higgins, Rosemary D.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, Bethesda, MD USA. RP Stephens, BE (reprint author), Brown Univ, Women & Infants Hosp, Dept Pediat, 101 Dudley St, Providence, RI 02905 USA. 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Yu, Shihui TI 15q11.2 Proximal Imbalances Associated With a Diverse Array of Neuropsychiatric Disorders and Mild Dysmorphic Features SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE deletion; duplication; 15q11.2; neuropsychatric disorder; dysmorphic feature ID COMPARATIVE GENOMIC HYBRIDIZATION; HEREDITARY SPASTIC PARAPLEGIA; GLOBUS-PALLIDUS DYSFUNCTION; PRADER-WILLI-SYNDROME; RECURRENT MICRODELETIONS; SCHIZOPHRENIA; RISK; VARIANTS; DELETION; AUTISM AB Deletion within the proximal region of chromosome 15q11.2 between breakpoints 1 and 2 (BP1-BP2) has been proposed to be a risk factor for intellectual disability, seizure, and schizophrenia. However, the clinical significance of its reciprocal duplication is not clearly defined yet. We evaluated 1654 consecutive pediatric patients with various neurological disorders by high-resolution microarray-based comparative genomic hybridization. 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NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 J9 J NEUROCHEM JI J. Neurochem. PD SEP PY 2012 VL 122 SU 1 SI SI BP 33 EP 33 PG 1 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA 003BI UT WOS:000308582800095 ER PT J AU Ricciardi, S Ungaro, F Hambrock, M Rademacher, N Stefanelli, G Brambilla, D Sessa, A Magagnotti, C Bachi, A Giarda, E Verpelli, C Kilstrup-Nielsen, C Sala, C Kalscheuer, VM Broccoli, V AF Ricciardi, Sara Ungaro, Federica Hambrock, Melanie Rademacher, Nils Stefanelli, Gilda Brambilla, Dario Sessa, Alessandro Magagnotti, Cinzia Bachi, Angela Giarda, Elisa Verpelli, Chiara Kilstrup-Nielsen, Charlotte Sala, Carlo Kalscheuer, Vera M. Broccoli, Vania TI CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons SO NATURE CELL BIOLOGY LA English DT Article ID RETT-SYNDROME; INFANTILE SPASMS; MENTAL-RETARDATION; EPILEPTIC ENCEPHALOPATHY; INTERSTITIAL DELETION; ADHESION MOLECULES; MUTATIONS; GENE; PROTEIN; PHOSPHORYLATION AB Mutations of the cyclin-dependent kinase-like 5 (CDKL5) and netrin-G1 (NTNG1) genes cause a severe neurodevelopmental disorder with clinical features that are closely related to Rett syndrome, including intellectual disability, early-onset intractable epilepsy and autism.We report here that CDKL5 is localized at excitatory synapses and contributes to correct dendritic spine structure and synapse activity. To exert this role, CDKL5 binds and phosphorylates the cell adhesion molecule NGL-1. This phosphorylation event ensures a stable association between NGL-1 and PSD95. Accordingly, phospho-mutant NGL-1 is unable to induce synaptic contacts whereas its phospho-mimetic form binds PSD95 more efficiently and partially rescues the CDKL5-specific spine defects. Interestingly, similarly to rodent neurons, iPSC-derived neurons from patients with CDKL5 mutations exhibit aberrant dendritic spines, thus suggesting a common function of CDKL5 in mice and humans. C1 [Hambrock, Melanie; Rademacher, Nils; Kalscheuer, Vera M.] Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany. [Ricciardi, Sara; Ungaro, Federica; Stefanelli, Gilda; Sessa, Alessandro; Broccoli, Vania] Ist Sci San Raffaele, Stem Cell & Neurogenesis Unit, Div Neurosci, I-20132 Milan, Italy. [Brambilla, Dario] Univ Milan, Sch Med, Dept Human Physiol, I-20133 Milan, Italy. [Magagnotti, Cinzia; Bachi, Angela] Ist Sci San Raffaele, Div Genet & Cell Biol, I-20132 Milan, Italy. [Giarda, Elisa; Kilstrup-Nielsen, Charlotte] Univ Insubria, Dept Struct & Funct Biol, Lab Genet & Epigenet Control Gene Express, I-21052 Busto Arsizio, VA, Italy. [Verpelli, Chiara; Sala, Carlo] Consiglio Nazl Ric Neurosci Inst, I-20129 Milan, Italy. RP Kalscheuer, VM (reprint author), Max Planck Inst Mol Genet, Dept Human Mol Genet, Ihnestr 73, D-14195 Berlin, Germany. EM kalscheu@molgen.mpg.de; broccoli.vania@hsr.it RI Kilstrup-Nielsen, Charlotte/A-6348-2014; Sala, Carlo/A-2493-2009 OI Sala, Carlo/0000-0003-0662-9523 FU Telethon Foundation; Ministry of Health; IIT-SEED project; EuroRETT network; EU-FP7 project GENCODYS [241995] FX We gratefully acknowledge T. Bienvenu for providing primary fibroblasts from CDKL5 patients, H. Van Esch and H. Archer for providing DNA samples from patients, S. Freier, A. Walther, A. Grimme, U. Fischer and B. Moser for their excellent technical assistance, and L. Musante for helpful discussions. L. Pecciarini is acknowledged for karyotype analysis of the iPSC lines. This study was supported by the Telethon Foundation, Ministry of Health, IIT-SEED project, EuroRETT network to V.B. and the EU-FP7 project GENCODYS (241995) to V.M.K. 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Ted TI Genes associated with autism spectrum disorder SO BRAIN RESEARCH BULLETIN LA English DT Review DE Autism spectrum disorder; Candidate genes; Genetic susceptibility; Etiology ID SEROTONIN TRANSPORTER GENE; FAMILY-BASED ASSOCIATION; CHINESE HAN POPULATION; RECEPTOR SUBUNIT GENES; CARRIER SLC25A12 GENE; COPY NUMBER VARIATION; LINKAGE-DISEQUILIBRIUM; NEUROLIGIN GENES; KOREAN TRIOS; GENOME-WIDE AB Autism spectrum disorder (ASD) is a heterogeneous grouping of neurodevelopmental disorders characterized by impairment in social interaction, verbal communication and repetitive/stereotypic behaviors. Much evidence suggests that ASD is multifactorial with a strong genetic basis, but the underlying mechanisms are far from clear. Recent advances in genetic technologies are beginning to shed light on possible etiologies of ASD. 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Bull. PD SEP 1 PY 2012 VL 88 IS 6 BP 543 EP 552 DI 10.1016/j.brainresbull.2012.05.017 PG 10 WC Neurosciences SC Neurosciences & Neurology GA 995XT UT WOS:000308049300001 PM 22688012 ER PT J AU Davis, M AF Davis, Michael TI The Editor's offering SO DIVING AND HYPERBARIC MEDICINE LA English DT Editorial Material DE Autism; hyperbaric oxygen therapy; research; editorials ID HYPERBARIC-OXYGEN THERAPY CR Chungpaibulpatana Jessada, 2008, Journal of the Medical Association of Thailand, V91, P1232 Ghanizadeh Ahmad, 2012, Med Gas Res, V2, P13, DOI 10.1186/2045-9912-2-13 Kot J, 2011, DIVING HYPERB MED, V41, P101 Rossignol DA, 2009, BMC PEDIATR, V9, DOI 10.1186/1471-2431-9-21 Sampanthavivat M, 2012, DIVING HYPERB MED, V42, P128 NR 5 TC 0 Z9 0 PU SOUTH PACIFIC UNDERWATER MED SOC PI MELBOURNE PA C/O AUSTRALIAN & NEW ZEALAND COLL ANAESTHETISTS, 630 ST KILDA RD, MELBOURNE, VIC 3004, AUSTRALIA SN 1833-3516 J9 DIVING HYPERB MED JI Diving Hyperb. Med. PD SEP PY 2012 VL 42 IS 3 BP 125 EP 125 PG 1 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 002AO UT WOS:000308502400001 ER PT J AU Sampanthavivat, M Singkhwa, W Chaiyakul, T Karoonyawanich, S Ajpru, H AF Sampanthavivat, Mayuree Singkhwa, Wararat Chaiyakul, Thanasawat Karoonyawanich, Sangdaw Ajpru, Haruthai TI Hyperbaric oxygen in the treatment of childhood autism: a randomised controlled trial SO DIVING AND HYPERBARIC MEDICINE LA English DT Article DE Autism; hyperbaric oxygen therapy; hyperbaric research ID CEREBRAL-BLOOD-FLOW; THERAPY; DISORDERS; PRESSURE; CHILDREN; PALSY AB (Sampanthavivat M, Singkhwa W, Chaiyakul T, Karoonyawanich S, Ajpru H. Hyperbaric oxygen in the treatment of childhood autism: a randomised controlled trial. Diving and Hyperbaric Medicine. 2012;42(3):128-133.) Background: Promising results with hyperbaric therapy for children with autism have been reported, but most involved the use of only mild pressure with oxygen supplementation. To date, there has been no randomised, blinded trial of 100% oxygen administered at hyperbaric pressure. This study evaluated the efficacy of hyperbaric oxygen therapy (HBOT). Methods: Sixty Thai children with autism, aged three to nine years, were randomly assigned to receive 20 one-hour sessions of either HBOT at 153 kPa (1.5 ATA) or sham air at 116 kPa (1.15 ATA). Effects on behaviour were measured using the Autism Treatment Evaluation Checklist score (ATEC) and clinical improvement was measured with the Clinical Global Impression (CGI) system; in particular the clinical change (CGIC) and severity (CGIS) sub-scores. These were evaluated by parents and clinicians, both of whom were blinded to the actual exposure. Results: The mean total ATEC scores by both parents and clinicians were significantly improved after intervention in both arms of the study compared to the score before intervention (P < 0.001 in both groups by parents, P = 0.015 in HBOT group and P = 0.004 in sham group by clinician). There were no statistically significant differences in average percentage changes of total ATEC score and all subscales scores when comparing the HBOT and sham air groups, either by parents or clinicians. Changes in the CGI scores following intervention were inconsistent between parents and clinicians. For severity scores (CGIS), parents rated their children as more improved following HBOT (P = 0.005), while the clinicians found no significant differences (P = 0.10). On the other hand, for change scores (CGIC) the clinicians indicated greater improvement following HBOT (P = 0.03), but the parents found no such difference (P = 0.28) Conclusions: Children with autism who received 20 sessions of either HBOT or a sham air exposure had significant improvements in overall behaviour but there were no significant differences in improvement between groups. The inconsistent changes on CGI sub-scores between parents and clinicians are difficult to interpret, but no overall clinically significant benefit from HBOT could be shown. Both interventions were safe and well tolerated with minimal side effect from middle ear barotraumas. C1 [Chaiyakul, Thanasawat] Royal Thai Navy, Naval Med Dept, Div Underwater & Aviat Med, Bangkok 10600, Thailand. [Sampanthavivat, Mayuree; Singkhwa, Wararat] Royal Thai Navy, Somdej Prapinklao Hosp, Naval Med Dept, Bangkok 10600, Thailand. [Karoonyawanich, Sangdaw; Ajpru, Haruthai] Royal Thai Navy, Coll Nursing, Naval Med Dept, Bangkok 10600, Thailand. RP Chaiyakul, T (reprint author), Royal Thai Navy, Naval Med Dept, Div Underwater & Aviat Med, 504-54 Taksin Rd, Bangkok 10600, Thailand. EM thanasawat.c@navy.mi.th FU HM Queen Sirikit Naval Hospital, Royal Thai Navy Foundation FX Mayuree Sampanthavivat is a board members of HM Queen Sirikit Naval Hospital, Royal Thai Navy Foundation who funded this research. The other authors report no potential conflict of interest.This research was funded by HM Queen Sirikit Naval Hospital, Royal Thai Navy Foundation and was presented at the 17th International Congress on Hyperbaric Medicine, 2011. We would like to acknowledge Drs Fakjit Poonpol, Nareerat Kamonpakorn, Arom Kaewboonchu and Pasinee Taycharpipranai for study design and clinical evaluation, Prawin Yanapirak, Kaewta Kitkamhang, Wuttichai Banjongpru and the hyperbaric care team from the Division of Underwater and Aviation Medicine, Naval Medical Department for their hyperbaric care and technical control, Maneerat Narangsiya for data collection, and Pawinee Buranaraktham for manuscript preparation. The authors wish to express special thanks to Drs Michael Bennett and Simon Mitchell for reviewing this manuscript and offering valuable advice prior to submission. 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Med. PD SEP PY 2012 VL 42 IS 3 BP 128 EP 133 PG 6 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 002AO UT WOS:000308502400004 PM 22987458 ER PT J AU Lesca, G Rudolf, G Labalme, A Hirsch, E Arzimanoglou, A Genton, P Motte, J de Saint Martin, A Valenti, MP Boulay, C De Bellescize, J Keo-Kosal, P Boutry-Kryza, N Edery, P Sanlaville, D Szepetowski, P AF Lesca, Gaetan Rudolf, Gabrielle Labalme, Audrey Hirsch, Edouard Arzimanoglou, Alexis Genton, Pierre Motte, Jacques de Saint Martin, Anne Valenti, Maria-Paola Boulay, Clotilde De Bellescize, Julitta Keo-Kosal, Pascale Boutry-Kryza, Nadia Edery, Patrick Sanlaville, Damien Szepetowski, Pierre TI Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism SO EPILEPSIA LA English DT Article DE Epilepsy; Slow-wave sleep; Landau-Kleffner; Autism; Gene ID COPY NUMBER VARIANTS; ELECTRICAL STATUS EPILEPTICUS; IDIOPATHIC ROLANDIC EPILEPSY; SPECTRUM DISORDERS; LANGUAGE IMPAIRMENT; WIDE ASSOCIATION; GENE; MUTATIONS; SPEECH; EEG AB Purpose: The continuous spike and waves during slow-wave sleep syndrome (CSWSS) and the Landau-Kleffner (LKS) syndrome are two rare epileptic encephalopathies sharing common clinical features including seizures and regression. Both CSWSS and LKS can be associated with the electroencephalography pattern of electrical status epilepticus during slow-wave sleep and are part of a clinical continuum that at its benign end also includes rolandic epilepsy (RE) with centrotemporal spikes. The CSWSS and LKS patients can also have behavioral manifestations that overlap the spectrum of autism disorders (ASD). An impairment of brain development and/or maturation with complex interplay between genetic predisposition and nongenetic factors has been suspected. A role for autoimmunity has been proposed but the pathophysiology of CSWSS and of LKS remains uncharacterized. Methods: In recent years, the participation of rare genomic alterations in the susceptibility to epileptic and autistic disorders has been demonstrated. The involvement of copy number variations (CNVs) in 61 CSWSS and LKS patients was questioned using comparative genomic hybridization assays coupled with validation by quantitative polymerase chain reaction (PCR). Key Findings: Whereas the patients showed highly heterogeneous in genomic architecture, several potentially pathogenic alterations were detected. A large number of these corresponded to genomic regions or genes (ATP13A4, CDH9, CDH13, CNTNAP2, CTNNA3, DIAPH3, GRIN2A, MDGA2, SHANK3) that have been either associated with ASD for most of them, or involved in speech or language impairment, or in RE. Particularly, CNVs encoding cell adhesion proteins (cadherins, protocadherins, contactins, catenins) were detected with high frequency (approximate to 20% of the patients) and significant enrichment (cell adhesion: p = 0.027; cell adhesion molecule binding: p = 9.27 x 10-7). Significance: Overall our data bring the first insights into the possible molecular pathophysiology of CSWSS and LKS. The overrepresentation of cell adhesion genes and the strong overlap with the genetic, genomic and molecular ASD networks, provide an exciting and unifying view on the clinical links among CSWSS, LKS, and ASD. C1 [Szepetowski, Pierre] Genet Epilepsies Isolees & Associees GEIA Grp, Inst Neurobiolo Mediterranee INMED, INSERM, UMR901, F-13273 Marseille 09, France. [Lesca, Gaetan; Labalme, Audrey; Edery, Patrick; Sanlaville, Damien] Lyon Hosp Civils, Dept Constitut Cytogenet, Lyon, France. [Lesca, Gaetan; Boutry-Kryza, Nadia; Edery, Patrick; Sanlaville, Damien] Univ Lyon 1, F-69365 Lyon, France. [Lesca, Gaetan; Arzimanoglou, Alexis; Boutry-Kryza, Nadia; Edery, Patrick; Sanlaville, Damien] CNRS, CRNL, UMR 5292, INSERM,U1028, Lyon, France. [Rudolf, Gabrielle; Hirsch, Edouard; Valenti, Maria-Paola; Boulay, Clotilde] Strasbourg Univ Hosp, Dept Neurol, Strasbourg, France. [Rudolf, Gabrielle; Hirsch, Edouard] Strasbourg Univ, Strasbourg, France. [Arzimanoglou, Alexis; De Bellescize, Julitta; Keo-Kosal, Pascale] Lyon Hosp Civils, Dept Pediat Epileptol, Lyon, France. [Genton, Pierre] Henri Gastaut Hosp, Marseille, France. [Motte, Jacques] Amer Mem Hosp, Pediat Dept A, Reims, France. [de Saint Martin, Anne] Strasbourg Univ Hosp, Dept Pediat 1, Strasbourg, France. [Boutry-Kryza, Nadia] Lyon Hosp Civils, Mol Genet Lab, Lyon, France. [Szepetowski, Pierre] Aix Marseille Univ, Marseille, France. RP Szepetowski, P (reprint author), Genet Epilepsies Isolees & Associees GEIA Grp, Inst Neurobiolo Mediterranee INMED, INSERM, UMR901, Parc Sci Luminy,BP 13, F-13273 Marseille 09, France. EM damien.sanlaville@chu-lyon.fr; szepetowski@inmed.univ-mrs.fr RI sanlaville, damien/M-4716-2014 OI sanlaville, damien/0000-0001-9939-2849 FU ANR (Agence Nationale de la Recherche) grant 'EPILAND'; National PHRC grant [03-08]; INSERM (Institut National de la Sante et de la Recherche Medicale) FX We thank all the patients and families who participated in the study. We thank Dr. A. Michel, Dr. L Lion-Francois, and Pr. V Des Portes for help in patient collection and phenotyping. We thank Raphaelle Lamy for expert technical assistance. Assistance from the Biological Resource Centre, Hospices Civils, Lyon, France, was greatly appreciated. This work was supported by ANR (Agence Nationale de la Recherche) grant 'EPILAND', by National PHRC grant 2010 No 03-08, and by INSERM (Institut National de la Sante et de la Recherche Medicale). 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the severity of autism in children SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY LA English DT Article DE Antineuronal antibodies; Autism; Autoimmunity; Childhood Autism Rating scale ID REGULATORY T-CELLS; SYSTEMIC-LUPUS-ERYTHEMATOSUS; BASIC-PROTEIN; NULL ALLELE; AUTOANTIBODIES; AUTOIMMUNITY; ASSOCIATION; RESISTANCE; NEUROPATHY; DISORDERS AB Background: Autism may involve an autoimmune pathogenesis. Immunotherapy may have a role in autistic children who have brain auto-antibodies. Aim: This study aimed to investigate the frequency of serum antineuronal auto-antibodies, as indicators of the presence of autoimmunity to brain, in a group of autistic children. We are the first to measure the relationship between these antibodies and the degree of the severity of autism. Methods: Serum antineuronal antibodies were measured, by indirect immunofluorescence technique, in 80 autistic children, aged between 6 and 12 years, in comparison to 80 healthy-matched children. The severity of autism was assessed by using the Childhood Autism Rating Scale. Results: Autistic children had significantly higher percent positivity of serum antineuronal antibodies (62.5%) than healthy controls (5%), P < 0.001. The frequency of the positivity of serum antineuronal antibodies was significantly higher in children with severe autism (87.5%) than children with mild to moderate autism (25%), P < 0.001. Similarly, the frequency of the positivity of these antibodies was significantly higher in female children with autism (90%) than male autistic children (53.3%), P = 0.001. Conclusions: Serum antineuronal antibodies were found in a subgroup of autistic children and they were significantly correlated to the severity of autism. Thus, autism may be, in part, one of the pediatric autoimmune neuropsychiatric disorders. Further wide-scale studies are warranted to shed light on the etiopathogenic role of antineuronal antibodies in autism. The role of immunotherapy in autistic patients, who are seropositive for antineuronal antibodies, should also be studied. (c) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. C1 [Mostafa, Gehan Ahmed; Al-Ayadhi, Laila Yousef] King Saud Univ, Autism Res & Treatment Ctr, AL Amodi Autism Res Chair, Dept Physiol,Fac Med, Riyadh, Saudi Arabia. [Mostafa, Gehan Ahmed] Ain Shams Univ, Dept Pediat, Fac Med, Cairo, Egypt. RP Mostafa, GA (reprint author), 9 Ahmed El Samman St Makram Ebaid, Cairo 11511, Egypt. EM hafezg@softhome.net FU King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia; NPST; Health Research and Studies program at Kind Saud University FX This work was financially supported by the King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. It was also supported by NPST, Health Research and Studies program at Kind Saud University. CR Al-Ayadhi LY, 2011, BRAIN BEHAV IMMUN, V25, P393 Al-Ayadhi LY, 2011, J NEUROINFLAMM, V8, DOI 10.1186/1742-2094-8-111 American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Benedetti L, 2007, J PERIPHER NERV SYST, V12, P102, DOI 10.1111/j.1529-8027.2007.00129.x Boris N. 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PD SEP PY 2012 VL 16 IS 5 BP 464 EP 468 DI 10.1016/j.ejpn.2011.12.010 PG 5 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 000KD UT WOS:000308384300008 PM 22226851 ER PT J AU Konstantynowicz, J Porowski, T Zoch-Zwierz, W Wasilewska, J Kadziela-Olech, H Kulak, W Owens, SC Piotrowska-Jastrzebska, J Kaczmarski, M AF Konstantynowicz, Jerzy Porowski, Tadeusz Zoch-Zwierz, Walentyna Wasilewska, Jolanta Kadziela-Olech, Halina Kulak, Wojciech Owens, Susan Costen Piotrowska-Jastrzebska, Janina Kaczmarski, Maciej TI A potential pathogenic role of oxalate in autism SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY LA English DT Article DE Childhood autism; Autism spectrum disorders; Hyperoxalemia; Oxalate ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; CALCIUM-OXALATE; GASTROINTESTINAL SYMPTOMS; YOUNG-CHILDREN; EXCRETION; CRYSTALLIZATION; NEPHROLITHIASIS; RISK; SUSCEPTIBILITY AB Background: Although autistic spectrum disorders (ASD) are a strongly genetic condition certain metabolic disturbances may contribute to clinical features. Metabolism of oxalate in children with ASD has not yet been studied. Aim: The objective was to determine oxalate levels in plasma and urine in autistic children in relation to other urinary parameters. Method: In this cross-sectional study, plasma oxalate (using enzymatic method with oxalate oxidase) and spontaneous urinary calcium oxalate (CaOx) crystallization (based on the Bonn-Risk-Index, BRI) were determined in 36 children and adolescents with ASD (26 boys, 10 girls) aged 2-18 years and compared with 60 healthy non-autistic children matched by age, gender and anthropometric traits. Results: Children with ASD demonstrated 3-fold greater plasma oxalate levels [5.60 (5th-95th percentile: 3.47-7.51)] compared with reference [(1.84 (5th-95th percentile: 0.50-4.70) mu mol/L ( p < 0.05)] and 2.5-fold greater urinary oxalate concentrations ( p < 0.05). No differences between the two groups were found in urinary pH, citraturia, calciuria or adjusted CaOx crystallization rates based on BRI. Despite significant hyperoxaluria no evidence of kidney stone disease or lithogenic risk was observed in these individuals. Conclusions: Hyperoxalemia and hyperoxaluria may be involved in the pathogenesis of ASD in children. Whether this is a result of impaired renal excretion or an extensive intestinal absorption, or both, or whether Ox may cross the blood brain barrier and disturb CNS function in the autistic children remains unclear. This appears to be the first report of plasma and urinary oxalate in childhood autism. (c) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. C1 [Konstantynowicz, Jerzy; Kadziela-Olech, Halina; Piotrowska-Jastrzebska, Janina] Med Univ Bialystok, Dept Pediat & Dev Disorders, PL-15274 Bialystok, Poland. [Porowski, Tadeusz; Zoch-Zwierz, Walentyna] Med Univ Bialystok, Dept Pediat & Nephrol, PL-15274 Bialystok, Poland. [Wasilewska, Jolanta; Kaczmarski, Maciej] Med Univ Bialystok, Dept Pediat Gastroenterol & Allergol, PL-15274 Bialystok, Poland. [Kulak, Wojciech] Med Univ Bialystok, Dept Pediat Rehabil, PL-15274 Bialystok, Poland. [Owens, Susan Costen] Autism Res Inst, Autism Oxalate Project, San Diego, CA USA. RP Konstantynowicz, J (reprint author), Med Univ Bialystok, Dr L Zamenhof Childrens Teaching Hosp, Dept Pediat & Dev Disorders, 17 Waszyngtona Str, PL-15274 Bialystok, Poland. 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NR 0 TC 0 Z9 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1090-3798 J9 EUR J PAEDIATR NEURO JI Eur. J. Paediatr. Neurol. PD SEP PY 2012 VL 16 IS 5 BP 557 EP 557 PG 1 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 000KD UT WOS:000308384300023 ER PT J AU Garcia-Penas, JJ Dominguez-Carral, J AF Jose Garcia-Penas, Juan Dominguez-Carral, Jana TI Association of Autism Spectrum Disorders, Epilepsy, and Temporal Lobe Pathology SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY LA English DT Meeting Abstract DE autism spectrum disorders; autistic regression; epilepsy; temporal lobe C1 [Jose Garcia-Penas, Juan; Dominguez-Carral, Jana] Hosp Univ Marques de Valdecilla, Santander, Cantabria, Spain. NR 0 TC 0 Z9 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1090-3798 J9 EUR J PAEDIATR NEURO JI Eur. J. Paediatr. Neurol. PD SEP PY 2012 VL 16 IS 5 BP 560 EP 560 PG 1 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 000KD UT WOS:000308384300033 ER PT J AU Lerna, A Esposito, D Conson, M Russo, L Massagli, A AF Lerna, Anna Esposito, Dalila Conson, Massimiliano Russo, Luigi Massagli, Angelo TI Social-communicative effects of the Picture Exchange Communication System (PECS) in Autism Spectrum Disorders SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS LA English DT Article DE Picture Exchange Communication System (PECS); autism; intervention; social and communicative skills ID CHILDREN; INTERVENTION; TEACHERS; SPEECH; SKILLS AB Background: The Picture Exchange Communication System (PECS) is a common treatment choice for non-verbal children with autism. However, little empirical evidence is available on the usefulness of PECS in treating socialcommunication impairments in autism. Aims: To test the effects of PECS on socialcommunicative skills in children with autism, concurrently taking into account standardized psychometric data, standardized functional assessment of adaptive behaviour, and information on socialcommunicative variables coded in an unstructured setting. Methods & Procedures: Eighteen preschool children (mean age = 38.78 months) were assigned to two intervention approaches, i.e. PECS and Conventional Language Therapy (CLT). Both PECS (Phases IIV) and CLT were delivered three times per week, in 30-min sessions, for 6 months. Outcome measures were the following: Autism Diagnostic Observation Schedule (ADOS) domain scores for Communication and Reciprocal Social Interaction; Language and PersonalSocial subscales of the Griffiths Mental Developmental Scales (GMDS); Communication and Social Abilities domains of the Vineland Adaptive Behavior Scales (VABS); and several socialcommunicative variables coded in an unstructured setting. Outcomes & Results: Results demonstrated that the two groups did not differ at Time 1 (pre-treatment assessment), whereas at Time 2 (post-test) the PECS group showed a significant improvement with respect to the CLT group on the VABS social domain score and on almost all the socialcommunicative abilities coded in the unstructured setting (i.e. joint attention, request, initiation, cooperative play, but not eye contact). Conclusions & Implications: These findings showed that PECS intervention (Phases IIV) can improve socialcommunicative skills in children with autism. This improvement is especially evident in standardized measures of adaptive behaviour and measures derived from the observation of children in an unstructured setting. C1 [Lerna, Anna; Esposito, Dalila; Russo, Luigi; Massagli, Angelo] Sci Inst IRCCS Eugenio Medea Reg Branch Ostuni, Brindisi Dept Neurorehabil 2, Brindisi, Italy. [Conson, Massimiliano] Univ Naples 2, Neuropsychol Lab, Dept Psychol, Caserta, Italy. 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PD SEP-OCT PY 2012 VL 47 IS 5 BP 609 EP 617 DI 10.1111/j.1460-6984.2012.00172.x PG 9 WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation GA 999DZ UT WOS:000308290900013 PM 22938071 ER PT J AU Assouline, SG Nicpon, MF Dockery, L AF Assouline, Susan G. Nicpon, Megan Foley Dockery, Lori TI Predicting the Academic Achievement of Gifted Students with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Cognitive ability; Academic achievement; Gifted ID WRITTEN LANGUAGE PRODUCTION; WORKING-MEMORY; PROCESSING SPEED; CHILDREN; ABILITY AB We are not well informed regarding the ability-achievement relationship for twice-exceptional individuals (very high cognitive ability and a diagnosed disability, e.g., autism spectrum disorder [ASD]). 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In this study, we compared attention to social scenes in 15 high-functioning individuals with autism (ASD) and matched typically developing (TD) individuals. Eye-tracking was recorded while participants were presented with pairs of scenes, either emotional positive-neutral, emotional negative-neutral or neutral-neutral scenes. Early allocation of attention, the first image fixated in each pair, differed between groups: contrary to TD individuals who showed the typical threat-detection advantage towards negative images, the ASD group failed to show a bias toward threat-related scenes. Later processing of stimuli, indicated by the total fixation to the images during the 3-s presentation, was found unaffected in the ASD group. These results support the hypothesis of an early atypical allocation of attention towards natural social scenes in ASD, that is compensated in later stages of visual processing. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1790 EP 1798 DI 10.1007/s10803-011-1415-6 PG 9 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100002 PM 22160371 ER PT J AU Whyatt, CP Craig, CM AF Whyatt, Caroline P. Craig, Cathy M. TI Motor Skills in Children Aged 7-10 Years, Diagnosed with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Motor control; Manual dexterity; Ball skills; Balance ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; IMPAIRMENT; MOVEMENT; SEVERITY AB This study used the Movement Assessment Battery for Children (M-ABC2) to assess motor skills in children aged 7-10 years with autism (n = 18) in comparison to two groups of age-matched typically developing children; a receptive vocabulary matched group (n = 19) and a nonverbal IQ matched group (n = 22). The results supported previous work, as indicated by a significant general motor impairment in the group with autism. 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A., 2000, TEST GROSS MOTOR DEV von Hofsten C, 2007, DEVELOPMENTAL SCI, V10, P54, DOI 10.1111/j.1467-7687.2007.00564.x Wechsler D., 2006, WECHSLER NONVERBAL S World Health Organisation, 1992, ICD 10 CLASS MENT BE NR 36 TC 16 Z9 16 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1799 EP 1809 DI 10.1007/s10803-011-1421-8 PG 11 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100003 PM 22180003 ER PT J AU Taheri, A Perry, A AF Taheri, Azin Perry, Adrienne TI Exploring the Proposed DSM-5 Criteria in a Clinical Sample SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE DSM-5; DSM-IV; ASD; Diagnosis ID AUTISM SPECTRUM DISORDER; DIAGNOSTIC-OBSERVATION-SCHEDULE; REVISED ALGORITHMS; IV-TR; VALIDITY AB The proposed DSM-5 criteria for Autism Spectrum Disorder (ASD) depart substantially from the previous DSM-IV criteria. In this file review study of 131 children aged 2-12, previously diagnosed with either Autistic Disorder or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), 63 % met the new DSM-5 ASD criteria, including 81 % previously diagnosed with Autistic Disorder and only 17 % of those with PDD-NOS. The proportion of children meeting DSM-5 differed by IQ grouping as well, with higher rates in lower IQ groups. Children who did meet criteria for ASD had significantly lower levels of cognitive and adaptive skills and greater autism severity but were similar in age. These findings raise concerns that the new DSM-5 criteria may miss a number of children who would currently receive a diagnosis. C1 [Taheri, Azin; Perry, Adrienne] York Univ, Dept Psychol, N York, ON M3J 1P3, Canada. RP Perry, A (reprint author), York Univ, Dept Psychol, 4700 Keele St, N York, ON M3J 1P3, Canada. 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PD SEP PY 2012 VL 42 IS 9 BP 1818 EP 1826 DI 10.1007/s10803-011-1420-9 PG 9 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100005 PM 22160348 ER PT J AU Welterlin, A Turner-Brown, LM Harris, S Mesibov, G Delmolino, L AF Welterlin, Aurelie Turner-Brown, Lauren M. Harris, Sandra Mesibov, Gary Delmolino, Lara TI The Home TEACCHing Program for Toddlers with Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Early intervention; TEACCH; Home-based intervention ID EARLY INTERVENTION; YOUNG-CHILDREN; COMMUNICATION; PARENTS; TRIAL AB The study evaluated the efficacy a parent training intervention for children with autism based on the TEACCH model. Twenty families were randomly assigned to the treatment or waitlist group. All families were compared at pre- and post-treatment on formal dependent measures. Direct measures of behavior were compared across six matched pairs using a multiple baseline probe design. The results of the multiple baseline design showed robust support for improvement in child and parent behavior. Due to the sample size and short time frame, results of a repeated measures analysis of variance did not reach significance. C1 [Welterlin, Aurelie; Turner-Brown, Lauren M.; Mesibov, Gary] Univ N Carolina, Chapel Hill, NC 27515 USA. [Welterlin, Aurelie; Turner-Brown, Lauren M.; Mesibov, Gary] Rutgers State Univ, Grad Sch Appl & Profess Psychol, Piscataway, NJ 08854 USA. RP Welterlin, A (reprint author), Univ N Carolina, Chapel Hill, NC 27515 USA. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1827 EP 1835 DI 10.1007/s10803-011-1419-2 PG 9 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100006 PM 22160347 ER PT J AU Smith, LE Seltzer, MM Greenberg, JS AF Smith, Leann E. Seltzer, Marsha Mailick Greenberg, Jan S. TI Daily Health Symptoms of Mothers of Adolescents and Adults with Fragile X Syndrome and Mothers of Adolescents and Adults with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Fragile X premutation; Autism spectrum disorders; Health symptoms ID PERVASIVE DEVELOPMENTAL DISORDERS; FMR1 PREMUTATION; INTELLECTUAL DISABILITY; CLINICAL INVOLVEMENT; SYNDROME SPECIFICITY; BEHAVIOR PROBLEMS; DOWN-SYNDROME; CARRIERS; PERSPECTIVE; PHENOTYPES AB Health symptoms of mothers of adolescents and adults with fragile X syndrome (FXS; n = 112) were compared to a nationally-representative sample of mothers of similarly-aged children without disabilities (n = 230) as well as to a sample of mothers of adolescents and adults with autism spectrum disorders (ASD; n = 96). Health symptoms experienced in the previous 24 h were recorded during 8 consecutive days of a daily diary study. Both mothers of a son or daughter with FXS and mothers of a son or daughter with ASD had a higher proportion of days with headaches, backaches, muscle soreness, fatigue, and hot flashes than mothers of children without disabilities. Mothers of children with disabilities appear to be at particular risk for health problems, highlighting a need for comprehensive services for families across the lifespan. C1 [Smith, Leann E.; Seltzer, Marsha Mailick; Greenberg, Jan S.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA. RP Smith, LE (reprint author), Univ Wisconsin, Waisman Ctr, 1500 Highland Ave, Madison, WI 53705 USA. 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PD SEP PY 2012 VL 42 IS 9 BP 1836 EP 1846 DI 10.1007/s10803-011-1422-7 PG 11 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100007 PM 22167342 ER PT J AU Strauss, MS Newell, LC Best, CA Hannigen, SF Gastgeb, HZ Giovannelli, JL AF Strauss, Mark S. Newell, Lisa C. Best, Catherine A. Hannigen, Sarah F. Gastgeb, Holly Zajac Giovannelli, Joyce L. TI The Development of Facial Gender Categorization in Individuals with and without Autism: The Impact of Typicality SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Gender categorization; Typicality; Face perception; Autism ID FEMALE FACES; RECOGNITION; SPECTRUM; CHILDREN; PERCEPTION; DISORDERS; EMOTION; INFANCY; SPACE; SEX AB While much research has examined the development of facial recognition abilities, less is known about the ability of individuals with and without autism to categorize facial gender. The current study tested gender categorization abilities in high-functioning children (5-7 and 8-12 years), adolescents (13-17 years), and adults (18-53 years) with autism and matched controls. Naturalistic videos depicted faces that were either typical or less typical of each gender. Both groups improved in their performance across development. However, control children reached expertise that was similar to control adults by 8-12 years; whereas, adults with autism never reached this level of expertise, particularly with less typical gender faces. Results suggest that individuals with autism employ different face processing mechanisms than typically developing individuals. C1 [Strauss, Mark S.; Best, Catherine A.; Hannigen, Sarah F.; Gastgeb, Holly Zajac] Univ Pittsburgh, Dept Psychol, Pittsburgh, PA 15260 USA. [Newell, Lisa C.] Indiana Univ Penn, Dept Psychol, Indiana, PA USA. [Best, Catherine A.] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA. 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PD SEP PY 2012 VL 42 IS 9 BP 1847 EP 1855 DI 10.1007/s10803-011-1428-1 PG 9 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100008 PM 22200937 ER PT J AU Cheely, CA Carpenter, LA Letourneau, EJ Nicholas, JS Charles, J King, LB AF Cheely, Catherine A. Carpenter, Laura A. Letourneau, Elizabeth J. Nicholas, Joyce S. Charles, Jane King, Lydia B. TI The Prevalence of Youth with Autism Spectrum Disorders in the Criminal Justice System SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Autism spectrum disorders; Criminality; Juvenile justice ID JUVENILE; DISABILITIES; OFFENDERS AB Past surveys have reported high rates of youth with disabilities in the juvenile justice system, however, little research has examined the frequency with which youth with Autism spectrum disorders (ASD) are in contact with law enforcement. Using records linkage with the Department of Juvenile Justice and the South Carolina Law Enforcement Division and the South Carolina Autism and Developmental Disabilities Monitoring Program (SC ADDM), this study compares the frequency, type, and outcome of criminal charges for youth with ASD and non-ASD youth. Youth with ASD had higher rates of crimes against persons and lower rates of crimes against property. Youth with ASD were more likely to be diverted into pre-trial interventions and less likely to be prosecuted than comparison youth. When compared to the overall SC ADDM sample, charged youth were less likely to have comorbid intellectual disability. C1 [Cheely, Catherine A.; Letourneau, Elizabeth J.] Med Univ S Carolina, Family Serv Res Ctr, Charleston, SC 29425 USA. RP Cheely, CA (reprint author), Med Univ S Carolina, Family Serv Res Ctr, 135 Rutledge Ave,MSC 567, Charleston, SC 29425 USA. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1856 EP 1862 DI 10.1007/s10803-011-1427-2 PG 7 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100009 PM 22187108 ER PT J AU Siegel, M Doyle, K Chemelski, B Payne, D Ellsworth, B Harmon, J Robbins, D Milligan, B Lubetsky, M AF Siegel, Matthew Doyle, Kathleen Chemelski, Bruce Payne, David Ellsworth, Beth Harmon, Jamie Robbins, Douglas Milligan, Briana Lubetsky, Martin TI Specialized Inpatient Psychiatry Units for Children with Autism and Developmental Disorders: A United States Survey SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Inpatient; Developmental; Admission ID INTELLECTUAL DISABILITY; CARE AB A cross sectional survey was performed to obtain the characteristics of specialized inpatient psychiatry units exclusively serving children with autism and other developmental disorders in the United States. Identified units were surveyed on basic demographic characteristics, clinical challenges and therapeutic modalities. Average length of stay was 42.3 days, children with autism spectrum disorders constituted the majority of the inpatient population (62.5-87.5%), and obtaining adequate post-discharge services was identified as the greatest challenge. Health policy implications and future research directions are suggested. C1 [Siegel, Matthew; Chemelski, Bruce; Payne, David; Ellsworth, Beth; Harmon, Jamie; Milligan, Briana] Spring Harbor Hosp & Maine Med Ctr, Dev Disorders Program, Westbrook, ME 04092 USA. [Siegel, Matthew] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA. [Doyle, Kathleen] Mt Holyoke Coll, S Hadley, MA 01075 USA. [Robbins, Douglas] Maine Med Ctr, Div Child Psychiat, Portland, ME 04102 USA. [Lubetsky, Martin] Western Psychiat Inst & Clin, Div Child Psychiat, Pittsburgh, PA USA. 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TI The Rubber Hand Illusion Reveals Proprioceptive and Sensorimotor Differences in Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE High-functioning autism spectrum disorder; Rubber hand illusion; Multimodal sensory integration; Local processing bias ID HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE; MIRROR NEURONS; SENSORY INTEGRATION; ASPERGERS-DISORDER; BODY EXPERIENCES; CHILDREN; MOVEMENT; INDIVIDUALS; PERCEPTION AB Autism spectrum disorder (ASD) is characterised by differences in unimodal and multimodal sensory and proprioceptive processing, with complex biases towards local over global processing. Many of these elements are implicated in versions of the rubber hand illusion (RHI), which were therefore studied in high-functioning individuals with ASD and a typically developing control group. Both groups experienced the illusion. A number of differences were found, related to proprioception and sensorimotor processes. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1870 EP 1883 DI 10.1007/s10803-011-1430-7 PG 14 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100011 PM 22189963 ER PT J AU Cornew, L Roberts, TPL Blaskey, L Edgar, JC AF Cornew, Lauren Roberts, Timothy P. L. Blaskey, Lisa Edgar, J. Christopher TI Resting-State Oscillatory Activity in Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Magnetoencephalography; Resting-state; Oscillations; Alpha; Gamma ID INTERNEURON DEVELOPMENT; MINICOLUMNAR PATHOLOGY; EEG ABNORMALITIES; BRAIN DYNAMICS; BASE-LINE; EPILEPSY; RHYTHMS; MEG; NETWORK; ALPHA AB 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. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1884 EP 1894 DI 10.1007/s10803-011-1431-6 PG 11 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100012 PM 22207057 ER PT J AU Locke, J Rotheram-Fuller, E Kasari, C AF Locke, Jill Rotheram-Fuller, Erin Kasari, Connie TI Exploring the Social Impact of Being a Typical Peer Model for Included Children with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Peer models; Autism; Social networks ID SKILLS INTERVENTIONS; YOUNG-CHILDREN; INCLUSION; CLASSROOMS; NETWORKS; RECOMMENDATIONS; INVOLVEMENT; LONELINESS; FRIENDSHIP; ATTITUDES AB This study examined the social impact of being a typical peer model as part of a social skills intervention for children with autism spectrum disorder (ASD). Participants were drawn from a randomized-controlled-treatment trial that examined the effects of targeted interventions on the social networks of 60 elementary-aged children with ASD. Results demonstrated that typical peer models had higher social network centrality, received friendships, friendship quality, and less loneliness than non-peer models. Peer models were also more likely to be connected with children with ASD than non-peer models at baseline and exit. These results suggest that typical peers can be socially connected to children with ASD, as well as other classmates, and maintain a strong and positive role within the classroom. C1 [Locke, Jill] Univ Penn, Sch Med, Ctr Mental Hlth Policy & Serv Res, Philadelphia, PA 19104 USA. [Locke, Jill] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA. [Rotheram-Fuller, Erin] Temple Univ, Philadelphia, PA 19122 USA. [Kasari, Connie] Univ Calif Los Angeles, Grad Sch Educ & Informat Studies, Los Angeles, CA USA. RP Locke, J (reprint author), 3535 Market St,3rd Floor, Philadelphia, PA 19104 USA. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1895 EP 1905 DI 10.1007/s10803-011-1437-0 PG 11 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100013 PM 22215436 ER PT J AU Ben-Sasson, A Carter, AS AF Ben-Sasson, Ayelet Carter, Alice S. TI The Application of the First Year Inventory for ASD Screening in Israel SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; ASD; Community Screening; Infant ID PERVASIVE DEVELOPMENTAL DISORDERS; AUTISM SPECTRUM DISORDERS; CROSS-CULTURAL ADAPTATION; EPIDEMIOLOGIC PERSPECTIVE; CHILDREN; INSTRUMENT; DIAGNOSIS; INFANTS; AGE AB This study was designed to examine the generalizability and validity of the First Year Inventory (FYI) in Israel. Parents completed the FYI about their 12-month-olds (N = 471). Up to one month later, 17 at-risk and 38 non-risk infants participated in an assessment in which the Autism Observation Scale for Infants (AOSI) and the Mullen Scales of Early Learning (MSEL) were administered. Using the original FYI 95th percentile cutoff the risk rate in this Israeli sample was 11%. The current sample's 95th percentile cutoff was 4.8 points higher than the original US sample. Infants in the risk group obtained significantly higher AOSI scores and lower MSEL scores. Socio-demographic factors may influence risk results suggesting the need to adapt screening to serve all. C1 [Ben-Sasson, Ayelet] Univ Haifa, Dept Occupat Therapy, IL-31905 Haifa, Israel. [Carter, Alice S.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA. RP Ben-Sasson, A (reprint author), Univ Haifa, Dept Occupat Therapy, IL-31905 Haifa, Israel. EM asasson@univ.haifa.ac.il CR Al- Qabandi M., 2011, PEDIATRICS, V128, P1098 Baird G, 2000, J AM ACAD CHILD PSY, V39, P694, DOI 10.1097/00004583-200006000-00007 Baranek GT, 1999, J AUTISM DEV DISORD, V29, P213, DOI 10.1023/A:1023080005650 Baranek GT, 2003, 1 YEAR INVENTORY FYI Beaton DE, 2000, SPINE, V25, P3186, DOI 10.1097/00007632-200012150-00014 Bryson SE, 2008, J AUTISM DEV DISORD, V38, P731, DOI 10.1007/s10803-007-0440-y Bryson SE, 2007, J AUTISM DEV DISORD, V37, P12, DOI 10.1007/s10803-006-0328-2 Canal-Bedia R, 2011, J AUTISM DEV DISORD, V41, P1342, DOI 10.1007/s10803-010-1163-z Chakrabarti S, 2005, AM J PSYCHIAT, V162, P1133, DOI 10.1176/appi.ajp.162.6.1133 Coonrod EE, 2004, INFANT YOUNG CHILD, V17, P258 Daley Tamara C, 2002, TRANSCULT PSYCHIATRY, V39, P531, DOI [10.1177/136346150203900409, DOI 10.1177/136346150203900409] Davidovitch M, 2001, ISRAEL MED ASSOC J, V3, P188 Dawson G., 2010, PEDIATRICS, V125, P17 Dawson G, 2008, DEV PSYCHOPATHOL, V20, P775, DOI 10.1017/S0954579408000370 Dereu M, 2010, J AUTISM DEV DISORD, V40, P1247, DOI 10.1007/s10803-010-0984-0 Dietz C, 2006, J AUTISM DEV DISORD, V36, P713, DOI 10.1007/s10803-006-0114-1 Engel-Yeger B, 2010, RES DEV DISABIL, V31, P87, DOI 10.1016/j.ridd.2009.08.001 Filipek PA, 2000, NEUROLOGY, V55, P468 Fombonne E, 2003, J AUTISM DEV DISORD, V33, P365, DOI 10.1023/A:1025054610557 Inada N, 2010, RES AUTISM SPECT DIS, V4, P605, DOI 10.1016/j.rasd.2009.12.003 Johnson CP, 2007, PEDIATRICS, V120, P1183, DOI 10.1542/peds.2007-2361 Miller JS, 2011, PEDIATRICS, V127, P866, DOI 10.1542/peds.2010-0136 Mullen E, 1995, MULLEN SCALES EARLY Muratori F., 2008, INT M AUT RES LOND Neuman Ariela, 2004, Occup Ther Int, V11, P112, DOI 10.1002/oti.201 Perera H, 2009, J TROP PEDIATRICS, V55, P402, DOI 10.1093/tropej/fmp031 Pierce K, 2011, J PEDIATR-US, V159, P458, DOI 10.1016/j.jpeds.2011.02.036 Reznick JS, 2007, J AUTISM DEV DISORD, V37, P1691, DOI 10.1007/s10803-006-0303-y Robins DL, 2001, J AUTISM DEV DISORD, V31, P131, DOI 10.1023/A:1010738829569 Stone WL, 2000, J AUTISM DEV DISORD, V30, P607, DOI 10.1023/A:1005647629002 The Central Bureau of Statistics and Ministry of Education Israel, 2007, REP CHILDR DAYC 2007 Tirosh E, 2003, J CHILD NEUROL, V18, P748, DOI 10.1177/08830738030180110901 van Widenfelt BM, 2005, CLIN CHILD FAM PSYCH, V8, P135, DOI 10.1007/s10567-005-4752-1 Weissblai I., 2005, PARTICIPATION WOMEN Zwaigenbaum L, 2005, INT J DEV NEUROSCI, V23, P143, DOI 10.1016/j.ijdevneu.2004.05.001 NR 35 TC 4 Z9 4 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1906 EP 1916 DI 10.1007/s10803-011-1436-1 PG 11 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100014 PM 22234796 ER PT J AU Kaartinen, M Puura, K Makela, T Rannisto, M Lemponen, R Helminen, M Salmelin, R Himanen, SL Hietanen, JK AF Kaartinen, Miia Puura, Kaija Makela, Tiina Rannisto, Mervi Lemponen, Riina Helminen, Mika Salmelin, Raili Himanen, Sari-Leena Hietanen, Jari K. TI Autonomic Arousal to Direct Gaze Correlates with Social Impairments Among Children with ASD SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Eye contact; Gaze; Skin conductance; Social skills ID EYE CONTACT; FACE RECOGNITION; JOINT ATTENTION; APPROACH BEHAVIOR; SKIN-CONDUCTANCE; AUTISM; SPECTRUM; COMMUNICATION; COMPETENCE; AVOIDANCE AB The present study investigated whether autonomic arousal to direct gaze is related to social impairments among children with autism spectrum disorder (ASD). Arousal was measured through skin conductance responses (SCR) while the participants (15 children with ASD and 16 control children) viewed a live face of another person. Impairments in social skills was assessed with the Developmental, Dimensional and Diagnostic Interview. The level of arousal enhancement to direct gaze in comparison to arousal to faces with averted gaze or closed eyes was positively associated with impairments in social skills (use of language and other social communication skills and use of gesture and non-verbal play) among children with ASD. There was no similar association among children without ASD. The role of arousal-related factors in influencing eye contact behaviour in ASD is discussed. C1 [Kaartinen, Miia; Puura, Kaija; Salmelin, Raili] Tampere Univ Hosp, Dept Child Psychiat, Tampere 33521, Finland. [Kaartinen, Miia; Puura, Kaija; Salmelin, Raili] Univ Tampere, Tampere 33521, Finland. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1917 EP 1927 DI 10.1007/s10803-011-1435-2 PG 11 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100015 PM 22215435 ER PT J AU Rahbar, MH Samms-Vaughan, M Loveland, KA Pearson, DA Bressler, J Chen, ZX Ardjomand-Hessabi, M Shakespeare-Pellington, S Grove, ML Beecher, C Bloom, K Boerwinkle, E AF Rahbar, Mohammad H. Samms-Vaughan, Maureen Loveland, Katherine A. Pearson, Deborah A. Bressler, Jan Chen, Zhongxue Ardjomand-Hessabi, Manouchehr Shakespeare-Pellington, Sydonnie Grove, Megan L. Beecher, Compton Bloom, Kari Boerwinkle, Eric TI Maternal and Paternal Age are Jointly Associated with Childhood Autism in Jamaica SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Maternal age; Paternal age; Multivariate General Linear Models; Multicollinearity ID OLDER REPRODUCTIVE AGE; SPECTRUM DISORDERS; INFANTILE-AUTISM; RISK-FACTORS; PERINATAL FACTORS; PARENTAL AGE; POPULATION; BIRTH; PARAMETERIZATION; CHILDREN AB Several studies have reported maternal and paternal age as risk factors for having a child with Autism Spectrum Disorder (ASD), yet the results remain inconsistent. We used data for 68 age- and sex-matched case-control pairs collected from Jamaica. Using Multivariate General Linear Models (MGLM) and controlling for parity, gestational age, and parental education, we found a significant (p < 0.0001) joint effect of parental ages on having children with ASD indicating an adjusted mean paternal age difference between cases and controls of [5.9 years; 95% CI (2.6, 9.1)] and a difference for maternal age of [6.5 years; 95% CI (4.0, 8.9)]. To avoid multicollinearity in logistic regression, we recommend joint modeling of parental ages as a vector of outcome variables using MGLM. C1 [Rahbar, Mohammad H.] Univ Texas Hlth Sci Ctr Houston UThlth, CCTS, BERD Core, Houston, TX 77030 USA. [Rahbar, Mohammad H.] Univ Texas Hlth Sci Ctr Houston UThlth, Div Epidemiol Human Genet & Environm Sci EHGES, Sch Publ Hlth, Houston, TX 77030 USA. [Samms-Vaughan, Maureen; Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child Hlth, Kingston 7, Jamaica. [Loveland, Katherine A.] UTHlth, UTHlth Med Sch, Dept Psychiat & Behav Sci, Houston, TX 77054 USA. [Loveland, Katherine A.] UTHlth, Dept Psychiat & Behav Sci, CLASS Clin, Houston, TX 77054 USA. [Loveland, Katherine A.] UTHlth, Ctr Excellence Dev & Psychopathol, Houston, TX 77054 USA. [Pearson, Deborah A.] UTHlth, UTHlth Med Sch, Dept Psychiat & Behav Sci, Div Child & Adolescent Psychiat, Houston, TX 77054 USA. [Bressler, Jan; Grove, Megan L.; Boerwinkle, Eric] UTHlth, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA. RP Rahbar, MH (reprint author), Univ Texas Hlth Sci Ctr Houston UThlth, CCTS, BERD Core, 6410 Fannin St,UT Profess Bldg,Suite 1100-05, Houston, TX 77030 USA. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1928 EP 1938 DI 10.1007/s10803-011-1438-z PG 11 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100016 PM 22230961 ER PT J AU Barbaro, J Dissanayake, C AF Barbaro, Josephine Dissanayake, Cheryl TI Developmental Profiles of Infants and Toddlers with Autism Spectrum Disorders Identified Prospectively in a Community-Based Setting SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Developmental profiles; Mullen; Infants; Toddlers; Prospective; Red flags; Receptive language ID EARLY LANGUAGE; COMMUNICATION DEVELOPMENT; PRESCHOOL-CHILDREN; YOUNG-CHILDREN; FOLLOW-UP; 2ND YEAR; AGE; STABILITY; DIAGNOSIS; OUTCOMES AB This prospective, longitudinal, study charted the developmental profiles of young children with Autism Spectrum Disorders (ASD) identified through routine developmental surveillance. 109 children with Autistic Disorder (AD), 'broader' ASD, and developmental and/or language delays (DD/LD) were assessed using the Mullen Scales of Early Learning (MSEL) at 12-months (n = 10 assessments), 18-months (n = 45 assessments), and 24-months (n = 99 assessments). The children with AD performed most poorly, overall, than the ASD and DD/LD groups on the MSEL. Furthermore, the children with AD/ASD displayed an uneven cognitive profile, with poorer performance on verbal (particularly receptive language) relative to nonverbal skills. There was also evidence of developmental slowing in verbal skills from 18- to 24-months for children on the spectrum, especially those with AD. Given that the poor receptive, relative to expressive, language profile emerges very early in life for children with AD/ASD, this cognitive profile may serve as an additional red flag to social attention and communication deficits. Receptive language should therefore be stringently monitored in any developmental surveillance program for autism spectrum disorders in the second year of life. C1 [Barbaro, Josephine; Dissanayake, Cheryl] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3083, Australia. RP Barbaro, J (reprint author), La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3083, Australia. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1939 EP 1948 DI 10.1007/s10803-012-1441-z PG 10 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100017 PM 22310906 ER PT J AU Witwer, AN Lecavalier, L Norris, M AF Witwer, Andrea N. Lecavalier, Luc Norris, Megan TI Reliability and Validity of the Children's Interview for Psychiatric Syndromes-Parent Version in Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Structured interview; Autism spectrum disorder; Psychiatric disorder; Validity; Reliability ID PERVASIVE DEVELOPMENTAL DISORDERS; SYNDROMES CHIPS; ANXIETY SYMPTOMS; VALIDATION; RATES AB The Children's Interview for Psychiatric Syndromes-Parent Version (P-ChIPS) is a structured psychiatric interview designed to assess the presence of psychiatric disorders in children and adolescents. This study examined the reliability and validity of the P-ChIPS in 61 youngsters (6- to 17-years-old) with Autism Spectrum Disorders. Reliability analyses were conducted according to level of functioning and language level. Results indicated that interrater reliability values were largely in the good to excellent range. Concordance between the P-ChIPS and the Child and Adolescent Symptoms Inventory was fair for the majority of disorders. Percent overall agreement for most disorders was good, lending support to the validity of the P-ChIPS. The results of this study suggest that the P-ChIPS is appropriate for this population. C1 [Witwer, Andrea N.; Lecavalier, Luc] Ohio State Univ, Dept Psychol, Nisonger Ctr, Columbus, OH 43210 USA. [Witwer, Andrea N.; Lecavalier, Luc] Ohio State Univ, Dept Psychiat, Nisonger Ctr, Columbus, OH 43210 USA. [Norris, Megan] Nationwide Childrens Hosp, Columbus, OH USA. 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PD SEP PY 2012 VL 42 IS 9 BP 1949 EP 1958 DI 10.1007/s10803-012-1442-y PG 10 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100018 PM 22274777 ER PT J AU Kocovska, E Biskupsto, R Gillberg, IC Ellefsen, A Kampmann, H Stora, T Billstedt, E Gillberg, C AF Kocovska, Eva Biskupsto, Rannva Gillberg, I. Carina Ellefsen, Asa Kampmann, Hanna Stora, Tormoour Billstedt, Eva Gillberg, Christopher TI The Rising Prevalence of Autism: A Prospective Longitudinal Study in the Faroe Islands SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Asperger's syndrome; Prevalence; Genetic isolate; Children; Young adults; Females ID COMMUNICATION DISORDERS; DIAGNOSTIC INTERVIEW; ASPERGER SYNDROME; TOTAL POPULATION; SPECTRUM; DEFICITS AB We have followed up a 2002 population study of autism prevalence in 15-24-year olds in the Faroe Islands. The rate of ASD grew significantly from 0.56% in 2002 to 0.94% in 2009. Although these results are within the range of typical findings from other studies, there were some interesting details. There were-in addition to 43 originally diagnosed cases in 2002-24 newly discovered cases in 2009 and nearly half of them were females. It is possible that unfamiliarity with the clinical presentation of autism in females have played a significant role in this context. There was diagnostic stability for the overall category of ASD over time in the group diagnosed in childhood (7-16) years, but considerable variability as regards diagnostic sub-groupings. C1 [Kocovska, Eva] Univ Glasgow, Royal Hosp Sick Children, Inst Hlth & Wellbeing, Glasgow G3 8SJ, Lanark, Scotland. [Gillberg, I. Carina; Billstedt, Eva; Gillberg, Christopher] Gillberg Neuropsychiat Ctr, SE-41119 Gothenburg, Sweden. RP Kocovska, E (reprint author), Univ Glasgow, Royal Hosp Sick Children, Inst Hlth & Wellbeing, Caledonia House, Glasgow G3 8SJ, Lanark, Scotland. EM eva.kocovska@glasgow.ac.uk CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Baron-Cohen S, 2009, BRIT J PSYCHIAT, V194, P500, DOI 10.1192/bjp.bp.108.059345 Billstedt E, 2005, J AUTISM DEV DISORD, V35, P351, DOI 10.1007/s10803-005-3302-5 EHLERS S, 1993, J CHILD PSYCHOL PSYC, V34, P1327, DOI 10.1111/j.1469-7610.1993.tb02094.x Ellefsen A, 2007, J AUTISM DEV DISORD, V37, P437, DOI 10.1007/s10803-006-0178-y Fernell E, 2010, RES DEV DISABIL, V31, P680, DOI 10.1016/j.ridd.2010.01.007 Fombonne E, 2008, BRIT J PSYCHIAT, V193, P159 Gillberg C, 1999, ACTA PSYCHIAT SCAND, V99, P399, DOI 10.1111/j.1600-0447.1999.tb00984.x Gillberg C., 1991, AUTISM ASPERGER SYND, P122, DOI 10.1017/CBO9780511526770.004 GILLBERG IC, 1989, J CHILD PSYCHOL PSYC, V30, P631, DOI 10.1111/j.1469-7610.1989.tb00275.x Hallerback M., 2011, DIAGNOSTIC INTERVIEW Kopp S, 2010, J ATTEN DISORD, V14, P167, DOI 10.1177/1087054709332458 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Nygren G, 2009, J AUTISM DEV DISORD, V39, P730, DOI 10.1007/s10803-008-0678-z Philippe A, 1999, HUM MOL GENET, V8, P805, DOI 10.1093/hmg/8.5.805 Posserud MB, 2009, J AUTISM DEV DISORD, V39, P126, DOI 10.1007/s10803-008-0609-z Posserud MB, 2006, J CHILD PSYCHOL PSYC, V47, P167, DOI 10.1111/j.1469-7610.2005.01462.x Ronald A, 2008, EUR CHILD ADOLES PSY, V17, P473, DOI 10.1007/s00787-008-0689-5 Wechsler D., 1992, WECHSLER INTELLIGENC Wechsler D, 1981, WECHSLER ADULT INTEL WHO, 1993, ICD 10 CLASS MENT BE Wing L, 2002, J CHILD PSYCHOL PSYC, V43, P307, DOI 10.1111/1469-7610.00023 NR 22 TC 7 Z9 7 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1959 EP 1966 DI 10.1007/s10803-012-1444-9 PG 8 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100019 PM 22271195 ER PT J AU Tek, S Landa, RJ AF Tek, Saime Landa, Rebecca J. TI Differences in Autism Symptoms Between Minority and Non-Minority Toddlers SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorder; Toddlers; Early symptoms; Minority ID SPECTRUM DISORDERS; CHILDREN; DIAGNOSIS; DISPARITIES; FAMILIES; RACE AB Little is known about whether early symptom presentation differs in toddlers with ASD from ethnic minority versus non-minority backgrounds. Within a treatment study for toddlers with ASD, we compared 19 minority to 65 Caucasian children and their parents on variables obtained from the Mullen Scales of Early Learning, Autism Diagnostic Observation Schedule, and Communication and Symbolic Behavior Scales Caregiver Questionnaire. The majority of parents were from the upper classes irrespective of ethnic membership. Minority children had lower scores in language, communication, and gross motor than non-minority children. Findings indicate that subtle communication delays may be undetected or presumed unremarkable by parents of minority toddlers, and that more significant delays are needed to prompt the search for intervention services. C1 [Tek, Saime; Landa, Rebecca J.] Johns Hopkins Univ, Ctr Autism & Related Disorders, Dept Psychiat & Behav Sci, Kennedy Krieger Inst,Sch Med, Baltimore, MD 21211 USA. RP Landa, RJ (reprint author), Johns Hopkins Univ, Ctr Autism & Related Disorders, Dept Psychiat & Behav Sci, Kennedy Krieger Inst,Sch Med, 3901 Greenspring Ave, Baltimore, MD 21211 USA. 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M., 2002, CSBS DP MANUAL COMMU Zhang J., 2006, INT J SPECIAL ED, V21, P109 NR 30 TC 8 Z9 8 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 1967 EP 1973 DI 10.1007/s10803-012-1445-8 PG 7 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100020 PM 22271196 ER PT J AU Ruble, L McGrew, JH Toland, MD AF Ruble, Lisa McGrew, John H. Toland, Michael D. TI Goal Attainment Scaling as an Outcome Measure in Randomized Controlled Trials of Psychosocial Interventions in Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Goal attainment scaling; Outcome measurement; Autism; Randomized controlled trials; Reliability; Psychosocial intervention ID YOUNG-CHILDREN; REHABILITATION; CONSULTATION; RELIABILITY; DISORDERS AB Goal attainment scaling (GAS) holds promise as an idiographic approach for measuring outcomes of psychosocial interventions in community settings. GAS has been criticized for untested assumptions of scaling level (i.e., interval or ordinal), inter-individual equivalence and comparability, and reliability of coding across different behavioral observation methods. We tested assumptions of equality between GAS descriptions for outcome measurement in a randomized trial (i.e., measurability, equidistance, level of difficulty, comparability of behavior samples collected from teachers vs. researchers and live vs. videotape). Results suggest GAS descriptions can be evaluated for equivalency, that teacher collected behavior samples are representative, and that varied sources of behavior samples can be reliably coded. GAS is a promising measurement approach. Recommendations are provided to ensure methodological quality. C1 [Ruble, Lisa; Toland, Michael D.] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY 40506 USA. [McGrew, John H.] Indiana Univ Purdue Univ, Dept Psychol, Indianapolis, IN 46205 USA. RP Ruble, L (reprint author), Univ Kentucky, Dept Educ Sch & Counseling Psychol, 237 Dickey Hall, Lexington, KY 40506 USA. 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PD SEP PY 2012 VL 42 IS 9 BP 1974 EP 1983 DI 10.1007/s10803-012-1446-7 PG 10 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100021 PM 22271197 ER PT J AU Kimhi, Y Bauminger-Zviely, N AF Kimhi, Yael Bauminger-Zviely, Nirit TI Collaborative Problem Solving in Young Typical Development and HFASD SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE HFASD; Collaborative problem solving; Peer relations; Preschool ID AUTISM SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; JOINT ATTENTION; INDIVIDUAL-DIFFERENCES; FRIENDSHIP RELATIONS; EXECUTIVE FUNCTION; SOCIAL ATTENTION; CHILDREN; MIND; COOPERATION AB Collaborative problem solving (CPS) requires sharing goals/attention and coordinating actions-all deficient in HFASD. Group differences were examined in CPS (HFASD/typical), with a friend versus with a non-friend. Participants included 28 HFASD and 30 typical children aged 3-6 years and their 58 friends and 58 non-friends. Groups were matched on CA, MA, IQ, and maternal education. The CPS task was placing pairs of blocks to balance scales. HFASD preschoolers solved the problem slower, showed more irrelevant behaviors, shared less, and used fewer coordinative gestures than TYP. But they were more responsive and had more fun with friends versus non-friends. In addition, they solved the problem more efficiently during their second attempt. Implications are discussed, regarding the social deficit of HFASD. C1 [Kimhi, Yael; Bauminger-Zviely, Nirit] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel. RP Bauminger-Zviely, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel. 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Dal, Henrik Svensson, Anna Galanti, Maria Rosaria Rai, Dheeraj Dalman, Christina Magnusson, Cecilia TI Brief Report: Maternal Smoking During Pregnancy and Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Population register; Smoking; Sweden; Tobacco ID RISK-FACTORS; CHILDREN; EPIDEMIOLOGY; EXPOSURE; PREVALENCE; OUTCOMES AB Prenatal exposure to tobacco smoke is suggested as a potential risk factor for autism spectrum disorders (ASD). Previous epidemiological studies of this topic have yielded mixed findings. We performed a case-control study of 3,958 ASD cases and 38,983 controls nested in a large register-based cohort in Sweden. ASD case status was measured using a multisource case ascertainment system. In adjusted results, we found that maternal smoking during pregnancy is not associated with increased risk of ASD regardless of presence or absence of comorbid intellectual disability. 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Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 2013 EP 2020 DI 10.1007/s10803-012-1443-x PG 8 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100026 PM 22271194 ER PT J AU Aitken, K AF Aitken, Kenneth TI Autism Spectrum Conditions: FAQs on Autism, Asperger Syndrome, and Atypical Autism Answered by International Experts SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Book Review C1 [Aitken, Kenneth] Hillside Residential Facil, Aberdour KY30RH, Scotland. [Aitken, Kenneth] Templeton Business Ctr, GGHB, LD CAMHS, Glasgow, Lanark, Scotland. RP Aitken, K (reprint author), 198 Whitehouse Rd, Edinburgh EH4 6BX, Midlothian, Scotland. EM drken.aitken@btinternet.com CR Bolte S, 2011, AUTISM SPECTRUM COND Clare I., 2009, NEUROPSYCHOLOGY PRAC, P109 NR 2 TC 0 Z9 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 2023 EP 2024 DI 10.1007/s10803-011-1395-6 PG 2 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100028 ER PT J AU VanBergeijk, E AF VanBergeijk, Ernst TI Crafting Connections: Contemporary Applied Behavior Analysis for Enriching the Social Lives of Persons with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Book Review C1 [VanBergeijk, Ernst] New York Inst Technol, Vocat Independence Program, Cent Islip, NY 11722 USA. RP VanBergeijk, E (reprint author), New York Inst Technol, Vocat Independence Program, 300 Carleton Ave,Room 112,Independence Hall, Cent Islip, NY 11722 USA. EM evanberg@nyit.edu CR Taubman M., 2011, CRAFTING CONNECTIONS NR 1 TC 0 Z9 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD SEP PY 2012 VL 42 IS 9 BP 2025 EP 2025 DI 10.1007/s10803-011-1396-5 PG 1 WC Psychology, Developmental SC Psychology GA 992XT UT WOS:000307815100029 ER PT J AU Tanpowpong, P Broder-Fingert, S Katz, AJ Camargo, CA AF Tanpowpong, Pornthep Broder-Fingert, Sarabeth Katz, Aubrey J. Camargo, Carlos A., Jr. TI Predictors of Gluten Avoidance and Implementation of a Gluten-Free Diet in Children and Adolescents without Confirmed Celiac Disease SO JOURNAL OF PEDIATRICS LA English DT Article ID IRRITABLE-BOWEL-SYNDROME; QUALITY-OF-LIFE; AT-RISK GROUPS; LACTOSE-INTOLERANCE; UNITED-STATES; PREVALENCE; DIAGNOSIS; AUTISM; BLIND; INDIVIDUALS AB Objectives To determine independent predictors of gluten avoidance and of a physician's decision to initiate a gluten-free diet (GFD) in children and adolescents without confirmed celiac disease. Study design We performed a structured medical record review of 579 patients aged 1-19 years presenting for evaluation of celiac disease between January 2000 and December 2010 at a large Boston teaching hospital. We collected data including demographic information, medical history, serology, small intestinal biopsy, history of gluten avoidance, and the postworkup recommendation of implementation of a GFD. Predictors of gluten-related issues were identified by multivariate logistic regression. Results Among 579 children without a previous diagnosis of celiac disease (mean age, 8.7 years), 43 (7.4%) had ever avoided gluten. Independent predictors of gluten avoidance were irritability or poor temper (OR, 3.2), diarrhea (OR, 2.5), weight issues (OR, 0.4), pervasive developmental disorder (OR, 5.3), and family history of celiac disease (OR, 2.2). Among 143 children without confirmed celiac disease who underwent diagnostic evaluation, several predictive factors were associated with a physician-recommended/parent-initiated GFD: irritability (OR, 6.4), diarrhea (OR, 3.4), pervasive developmental disorder (OR, 7.9), and positive serology before the referral (OR, 4.3). Conclusion Gluten avoidance among children and adolescents without a previous diagnosis of celiac disease is relatively common. The identified predictors suggest that gluten avoidance is associated with nonspecific behavioral and gastrointestinal complaints and perhaps with the perceived dietary responses in another family member thought to have celiac disease. (J Pediatr 2012;161:471-5). C1 [Camargo, Carlos A., Jr.] Harvard Univ, Massachusetts Gen Hosp, Dept Emergency Med, Sch Med, Boston, MA 02114 USA. [Tanpowpong, Pornthep; Broder-Fingert, Sarabeth; Katz, Aubrey J.] Harvard Univ, Massachusetts Gen Hosp, Div Pediat Gastroenterol & Nutr, Sch Med, Boston, MA 02114 USA. RP Camargo, CA (reprint author), Harvard Univ, Massachusetts Gen Hosp, Dept Emergency Med, Sch Med, 326 Cambridge St,Suite 410, Boston, MA 02114 USA. 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TI The continuing value of twin studies in the omics era SO NATURE REVIEWS GENETICS LA English DT Review ID DISCORDANT MONOZYGOTIC TWINS; AUTISM SPECTRUM DISORDERS; LYMPHOBLASTOID CELL-LINES; GENOME-WIDE ASSOCIATION; POPULATION-BASED TWIN; GENETIC INFLUENCES; DNA METHYLATION; BIPOLAR DISORDER; BIRTH-WEIGHT; EPIGENETIC DIFFERENCES AB The classical twin study has been a powerful heuristic in biomedical, psychiatric and behavioural research for decades. Twin registries worldwide have collected biological material and longitudinal phenotypic data on tens of thousands of twins, providing a valuable resource for studying complex phenotypes and their underlying biology. In this Review, we consider the continuing value of twin studies in the current era of molecular genetic studies. We conclude that classical twin methods combined with novel technologies represent a powerful approach towards identifying and understanding the molecular pathways that underlie complex traits. 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Rev. Genet. PD SEP PY 2012 VL 13 IS 9 BP 640 EP 653 DI 10.1038/nrg3243 PG 14 WC Genetics & Heredity SC Genetics & Heredity GA 996DJ UT WOS:000308064000011 PM 22847273 ER PT J AU Wylie, M AF Wylie, Mark TI Working with Parents of a Newly Diagnosed Child with an Autism Spectrum Disorder SO PSYCHOLOGIST LA English DT Book Review CR Keen D, 2012, WORKING PARENTS NEWL NR 1 TC 0 Z9 0 PU BRITISH PSYCHOLOGICAL SOC PI LEICESTER PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND SN 0952-8229 J9 PSYCHOLOGIST JI Psychologist PD SEP PY 2012 VL 25 IS 9 BP 695 EP 695 PG 1 WC Psychology, Multidisciplinary SC Psychology GA 002FC UT WOS:000308516400042 ER PT J AU Ridgers, ND Salmon, J Parrish, AM Stanley, RM Okely, AD AF Ridgers, Nicola D. Salmon, Jo Parrish, Anne-Maree Stanley, Rebecca M. Okely, Anthony D. TI Physical Activity During School Recess A Systematic Review SO AMERICAN JOURNAL OF PREVENTIVE MEDICINE LA English DT Review ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; NORWEGIAN SECONDARY-SCHOOLS; AUTISM SPECTRUM DISORDERS; ELEMENTARY-SCHOOL; INTELLECTUAL DISABILITIES; MENTAL-RETARDATION; ACTIVITY PATTERNS; AGED CHILDREN; YOUTH; TIME AB Context: Interest has increased in examining the physical activity levels of young people during school recess. Identifying correlates of their recess physical activity behaviors is timely, and would inform school-based physical activity programming and intervention development. The review examined the correlates of children's and adolescent's physical activity during school recess periods. Evidence acquisition: Asystematic search of six electronic databases, reference lists, and personal archives identified 53 studies (47 focused on children) published between January 1990 and April 2011 that met the inclusion criteria. Data were analyzed in 2011. Correlates were categorized using the social-ecological framework. Evidence synthesis: Forty-four variables were identified across the four levels of the social-ecological framework, although few correlates were studied repeatedly at each level. Positive associations were found of overall facility provision, unfixed equipment, and perceived encouragement with recess physical activity. Results revealed that boys were more active than girls. Conclusions: Providing access to school facilities, providing unfixed equipment, and identifying ways to promote encouragement for physical activity have the potential to inform strategies to increase physical activity levels during recess periods. (Am J Prev Med 2012;43(3):320-328) (C) 2012 American Journal of Preventive Medicine C1 [Ridgers, Nicola D.; Salmon, Jo] Deakin Univ, Ctr Phys Act & Nutr Res, Melbourne, Vic, Australia. [Parrish, Anne-Maree] Univ Wollongong, Fac Hlth & Behav Sci, Wollongong, NSW, Australia. [Okely, Anthony D.] Univ Wollongong, Interdisciplinary Educ Res Inst, Wollongong, NSW, Australia. [Stanley, Rebecca M.] Univ S Australia, Hlth & Use Time Grp, Sch Hlth Sci, Adelaide, SA 5001, Australia. RP Ridgers, ND (reprint author), Deakin Univ, Ctr Phys Act & Nutr Res, 221 Burwood Highway, Burwood 3125, Australia. EM nicky.ridgers@deakin.edu.au RI Ridgers, Nicola/B-2092-2013 FU Alfred Deakin Postdoctoral Research Fellowship; National Heart Foundation of Australia; sanofi-aventis; Australian Postgraduate Award Scholarship; University of South Australia FX Nicola Ridgers is supported by an Alfred Deakin Postdoctoral Research Fellowship. Jo Salmon is supported by a National Heart Foundation of Australia and sanofi-aventis Career Development Award. Rebecca Stanley is supported by an Australian Postgraduate Award Scholarship and a University of South Australia Top Up Scholarship. 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Health PD SEP PY 2012 VL 17 IS 3 BP 192 EP 192 DI 10.1111/j.1475-3588.2012.680_4.x PG 1 WC Psychology, Clinical; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 974AP UT WOS:000306402400015 ER PT J AU Kuwagata, M AF Kuwagata, Makiko TI Current problems of in vivo developmental neurotoxicity tests and a new in vivo approach focusing on each step of the developing central nervous system SO CONGENITAL ANOMALIES LA English DT Review DE 5-bromo-2'-deoxyuridine; developmental neurotoxicity test; fetal brain observation; new in vivo approach; valproic acid ID FETAL VALPROATE SYNDROME; PRENATAL EXPOSURE; INDIVIDUAL-DIFFERENCES; REPRODUCTIVE FUNCTION; ANIMAL-MODEL; RAT; AUTISM; BRAIN; BROMODEOXYURIDINE; MOUSE AB Developmental neurotoxicity (DNT) tests usually focus on postnatal indicators, such as behavior and neuropathology, for the detection of chemically induced neurodevelopmental defects in the central nervous system (CNS). However, low reliability, especially low reproducibility, of behavioral results often causes concern among scientists and the scientific community in general. Guidance of neurohistopathological examination in the DNT guideline also has some shortcomings, especially relating to the methodological aspects. Ongoing international trends in DNT tests have shifted from the use of original in vivo animal (mammalian) studies to in vitro experiments using cell cultures and/or non-mammalian species, such as fish. In vitro systems might initially be useful to screen test chemicals for their DNT potential. Although in vitro systems are employed as alternative approaches for DNT studies, the use of in vivo studies based on animal models remains an important factor when data are to be extrapolated to the human case. In this review, a new in vivo approach that focuses on histopathological observation of each developmental step of the CNS, such as proliferation of neural stem cells, migration of immature neurons, and formation of neural networks, using fetal and neonatal brains after chemical exposure is introduced, and some queries and arguments for current DNT experimental guidelines are discussed. C1 [Kuwagata, Makiko] Food & Drug Safety Ctr, Pathol Lab, Div Toxicol, Hatano Res Inst, Hadano, Kanagawa 2578523, Japan. [Kuwagata, Makiko] Showa Univ, Sch Med, Tokyo 142, Japan. RP Kuwagata, M (reprint author), Food & Drug Safety Ctr, Pathol Lab, Div Toxicol, Hatano Res Inst, 729-5 Ochiai, Hadano, Kanagawa 2578523, Japan. EM kuwagata.m@fdsc.or.jp FU Long-range Research Initiative (LRI); Ministry of Education, Science, and Culture of Japan FX This study was supported by a grant of the Long-range Research Initiative (LRI) and Grants-in Aid for Scientific research from the Ministry of Education, Science, and Culture of Japan. The corresponding author deeply appreciates Drs T. Ogawa and S. Shioda (Showa University, Tokyo, Japan) for collaboration on this research through the LRI grant, and also Dr T. Nagata (Hatano Research Institute, Food and Drug Safety Center, Kanagawa, Japan) for continuous encouragement to conduct this research, and Dr R. Rakwal (University of Tsukuba, Ibaraki, and Showa University, Tokyo, Japan) for critical reading and checking of this manuscript. 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Anom. PD SEP PY 2012 VL 52 IS 3 SI SI BP 129 EP 139 DI 10.1111/j.1741-4520.2012.00376.x PG 11 WC Pediatrics SC Pediatrics GA 994QT UT WOS:000307947000003 PM 22925213 ER PT J AU Attermann, J Obel, C Bilenberg, N Nordenbaek, CM Skytthe, A Olsen, J AF Attermann, Jorn Obel, Carsten Bilenberg, Niels Nordenbaek, Claudia Maria Skytthe, Axel Olsen, Jorn TI Traits of ADHD and autism in girls with a twin brother: a Mendelian randomization study SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE Autism; ADHD; Instrumental variable; Epidemiology; Twins ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; FETAL TESTOSTERONE; ASPERGER-SYNDROME; GENETIC INFLUENCES; SEX-DIFFERENCES; BEHAVIOR; EPIDEMIOLOGY; CHILD; PSYCHOPATHOLOGY; HERITABILITY AB It has been hypothesized that prenatal exposure to testosterone may be associated with traits of attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). We conducted a population-based study of dizygotic female twins to elucidate this hypothesis, assuming that the sex of the co-twin influences the level of prenatal exposure to testosterone. We invited parents of 24,552 3- to 15-year-old twins to answer questionnaires on traits of ADHD and ASD. We analysed the data using a proportional odds model with sex of the co-twin as an instrumental variable for prenatal exposure to testosterone of female twins. We received responses for 6,339 girls from dizygotic twin pairs. Odds ratios for male versus female co-twin were 0.71 (95 % confidence interval 0.61-0.81) for ADHD traits and 0.74 (0.66-0.83) for ASD traits, indicating that a twin brother reduces traits of ADHD and ASD in females. In conclusion, we found that female twins with a twin brother scored significantly lower in parent-reported traits of ADHD and ASD than those with a twin sister. The reason for this may be parental reporting bias, or confounding by unmeasured variables, or a causal effect of an intrauterine environment modified by the sex of the co-twin in the opposite direction of what we expected. C1 [Attermann, Jorn; Olsen, Jorn] Aarhus Univ, Sch Publ Hlth, Dept Epidemiol, DK-8000 Aarhus C, Denmark. [Obel, Carsten] Aarhus Univ, Sch Publ Hlth, Dept Gen Med, DK-8000 Aarhus C, Denmark. [Bilenberg, Niels; Nordenbaek, Claudia Maria] Univ So Denmark, Inst Publ Hlth, Child & Adolescent Psychiat Dept, Odense, Denmark. RP Attermann, J (reprint author), Aarhus Univ, Sch Publ Hlth, Dept Epidemiol, Bartholins Alle 2, DK-8000 Aarhus C, Denmark. 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Child Adolesc. Psych. PD SEP PY 2012 VL 21 IS 9 BP 503 EP 509 DI 10.1007/s00787-012-0287-4 PG 7 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 999WT UT WOS:000308346700004 PM 22643885 ER PT J AU Woodward, JF Swigonski, NL Ciccarelli, MR AF Woodward, Jason F. Swigonski, Nancy L. Ciccarelli, Mary R. TI Assessing the Health, Functional Characteristics, and Health Needs of Youth Attending a Noncategorical Transition Support Program SO JOURNAL OF ADOLESCENT HEALTH LA English DT Article DE Transition to adulthood; Health care needs; Children with special health care needs; Health care surveys; 2005-2006 National Survey of Children with Special Health Care Needs; Health service utilization ID CARE NEEDS; YOUNG-ADULTS; PREVENTIVE CARE; NATIONAL-SURVEY; RISK BEHAVIORS; ADOLESCENTS; DISABILITIES; CHILDREN; PERSPECTIVES; PERCEPTIONS AB Purpose: To assess the health, functional characteristics, and health care service needs of youth and young adults with special health care needs attending a comprehensive, noncategorical transition program. Methods: A self-administered survey was developed from national health surveys and clinical experience to assess concepts identified as important for successful transition to adulthood. Surveys were mailed to 198 parents of youth and young adults with special health care needs attending the transition clinic. Parents were asked about the youth's health, functional status, and health care services needed. The clinical database provided demographic and patient health characteristics. Results were compared against the 2005-2006 National Survey of Children with Special Health Care Needs. Results: Forty-four percent of surveys were returned. Average age of youth was 17.5 (11-22) years old and diagnoses included cerebral palsy (36%), spina bifida (10%), developmental delay or Down syndrome (17%), and autism (6%). Most youth needed assistance with personal care (69%) and routine needs (91%) and used assistive devices (59%). Compared with the 2005-2006 National Survey of Children with Special Health Care Needs, parents reported higher needs for all services except mental health care and tobacco or substance use counseling. Forty three percent reported at least one unmet health need. Few parents reported the need for counseling on substance use (1%), sexual health screening (16%), nutrition (34%), and exercise (41%). Conclusions: Youth attending our transition program had more functional limitations, poorer reported health status, different diagnosis distribution, and higher levels of needed health services. Few parents identified needs for other recommended adolescent preventive services. Transition programs should assess patient health characteristics and service needs to design effective patient-centered services. (C) 2012 Society for Adolescent Health and Medicine. All rights reserved. C1 [Woodward, Jason F.; Ciccarelli, Mary R.] Indiana Univ Sch Med, Riley Hosp Children, Dept Pediat, Indianapolis, IN 46220 USA. [Swigonski, Nancy L.] Indiana Univ Sch Med, Childrens Hlth Serv Res, Dept Publ Hlth, Indianapolis, IN 46220 USA. RP Woodward, JF (reprint author), Indiana Univ Sch Med, Riley Hosp Children, Dept Pediat, 705 Riley Hosp,Dr Room 5867, Indianapolis, IN 46220 USA. EM jfwoodwa@iupui.edu FU Department of Pediatrics at Riley Hospital for Children; Wishard Health Services; Indiana University Medical Group-Primary Care; Indiana State Department of Health (ISDH, Maternal and Child Health Services) [A70-0-069224]; Health Resources and Services Administration [D70MC12842-02-00]; Agency for Healthcare Research and Quality [T32 HS 017588-02] FX The authors thank Shelley Butler, Karan Mahal, Brittaney Hindman, Erin Gladstone, and the CYACC team. CYACC is supported by the Department of Pediatrics at Riley Hospital for Children, Wishard Health Services, Indiana University Medical Group-Primary Care, and the Indiana State Department of Health (ISDH, Maternal and Child Health Services grant A70-0-069224). Dr. Ciccarelli and Dr. Swigonski are supported by a Health Resources and Services Administration state implementation grant (Indiana Community Integrated Systems of Services for Children and Youth with Special Health Care Needs, D70MC12842-02-00). Dr. Woodward is supported by an Agency for Healthcare Research and Quality training grant (T32 HS 017588-02). 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Adolesc. Health PD SEP PY 2012 VL 51 IS 3 BP 272 EP 278 DI 10.1016/j.jadohealth.2011.12.016 PG 7 WC Psychology, Developmental; Public, Environmental & Occupational Health; Pediatrics SC Psychology; Public, Environmental & Occupational Health; Pediatrics GA 994QJ UT WOS:000307945900012 PM 22921138 ER PT J AU van Steijn, DJ Richards, JS Oerlemans, AM de Ruiter, SW van Aken, MAG Franke, B Buitelaar, JK Rommelse, NNJ AF van Steijn, Daphne J. Richards, Jennifer S. Oerlemans, Anoek M. de Ruiter, Saskia W. van Aken, Marcel A. G. Franke, Barbara Buitelaar, Jan. K. Rommelse, Nanda N. J. TI The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Assortative mating; parent-of-origin effect; autism spectrum disorder; attention-deficit; hyperactivity disorder ID DEFICIT-HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; FAMILIAL RISK; QUOTIENT AQ; POPULATION; SAMPLE; HERITABILITY; TRANSMISSION; ASSOCIATION; ADOLESCENTS AB Background: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) share about 5072% of their genetic factors, which is the most likely explanation for their frequent co-occurrence within the same patient or family. An additional or alternative explanation for the co-occurrence may be (cross-)assortative mating, e.g., the tendency to choose a partner that is similar or dissimilar to oneself. Another issue is that of parent-of-origin effect which refers to the possibility of parents differing in the relative quantity of risk factors they transmit to the offspring. The current study sets out to examine (cross-)assortative mating and (cross-)parent-of-origin effects of ASD and ADHD in parents of children with either ASD or ASD with ADHD diagnosis. Methods: In total, 121 families were recruited in an ongoing autism-ADHD family genetics project. Participating families consisted of parents and at least one child aged between 2 and 20 years, with either autistic disorder, Asperger disorder or PDD-NOS, and one or more biological siblings. All children and parents were carefully screened for the presence of ASD and ADHD. Results: No correlations were found between maternal and paternal ASD and ADHD symptoms. Parental ASD and ADHD symptoms were predictive for similar symptoms in the offspring, but with maternal hyperactive-impulsive symptoms, but not paternal symptoms, predicting similar symptoms in daughters. ASD pathology in the parents was not predictive for ADHD pathology in the offspring, but mothers ADHD pathology was predictive for offspring ASD pathology even when corrected for maternal ASD pathology. Conclusions: Cross-assortative mating for ASD and ADHD does not form an explanation for the frequent co-occurrence of these disorders within families. Given that parental ADHD is predictive of offspring ASD but not vice versa, risk factors underlying ASD may overlap to a larger degree with risk factors underlying ADHD than vice versa. However, future research is needed to clarify this issue. C1 [van Steijn, Daphne J.; Oerlemans, Anoek M.; Buitelaar, Jan. K.; Rommelse, Nanda N. J.] Karakter Child & Adolescent Psychiat Univ Ctr, NL-6525 GC Nijmegen, Netherlands. [Richards, Jennifer S.; Oerlemans, Anoek M.; de Ruiter, Saskia W.; Franke, Barbara; Rommelse, Nanda N. J.] Radboud Univ Nijmegen, Dept Psychiat, Donders Inst Brain Cognit & Behav, Med Ctr, NL-6525 ED Nijmegen, Netherlands. [van Aken, Marcel A. G.] Univ Utrecht, Dept Dev Psychol, Utrecht, Netherlands. [Franke, Barbara] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands. [Buitelaar, Jan. K.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, Med Ctr, NL-6525 ED Nijmegen, Netherlands. RP van Steijn, DJ (reprint author), Karakter Child & Adolescent Psychiat Univ Ctr, Reinier Postlaan 12, NL-6525 GC Nijmegen, Netherlands. EM d.vansteijn@karakter.com RI Franke, Barbara/D-4836-2009; Rommelse, Nanda/D-4872-2009 OI Franke, Barbara/0000-0003-4375-6572; Rommelse, Nanda/0000-0002-1711-0359 FU Netherlands Organisation for Scientific Research (NWO) [91610024] FX This study forms part of the Biologische oorzaken van Autisme (BOA-project): http://www.karakter.com/karakter_nl/32f6a9d20d03ec5bef446f1f90c5fa65.php . We would like to thank parents, teachers and children participating in this project. This study was partly funded by a grant assigned to Dr. Rammelse by the Netherlands Organisation for Scientific Research (NWO grant #91610024). 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Child Psychol. Psychiatry PD SEP PY 2012 VL 53 IS 9 BP 954 EP 963 DI 10.1111/j.1469-7610.2012.02556.x PG 10 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 994TH UT WOS:000307954500008 PM 22537103 ER PT J AU Landa, RJ Gross, AL Stuart, EA Bauman, M AF Landa, Rebecca J. Gross, Alden L. Stuart, Elizabeth A. Bauman, Margaret TI Latent class analysis of early developmental trajectory in baby siblings of children with autism SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Autism; trajectories; broader autism phenotype ID SPECTRUM DISORDERS; INFANTILE-AUTISM; MIXTURE-MODELS; REGRESSION; RISK; LANGUAGE; IDENTIFICATION; ASSOCIATION; RECURRENCE; BEHAVIOR AB Background: Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Methods: Sibs-A (N = 204) were assessed with the Mullen Scales of Early Learning from age 6 to 36 months. Mullen T scores served as dependent variables. Outcome classifications at age 36 months included: ASD (N = 52); non-ASD social/communication delay (broader autism phenotype; BAP; N = 31); and unaffected (N = 121). Child-specific patterns of performance were studied using latent class growth analysis. Latent class membership was then related to diagnostic outcome through estimation of within-class proportions of children assigned to each diagnostic classification. Results: A 4-class model was favored. Class 1 represented accelerated development and consisted of 25.7% of the sample, primarily unaffected children. Class 2 (40.0% of the sample), was characterized by normative development with above-average nonverbal cognitive outcome. Class 3 (22.3% of the sample) was characterized by receptive language, and gross and fine motor delay. Class 4 (12.0% of the sample), was characterized by widespread delayed skill acquisition, reflected by declining trajectories. Children with an outcome diagnosis of ASD were spread across Classes 2, 3, and 4. Conclusions: Results support a category of ASD that involves slowing in early non-social development. Receptive language and motor development is vulnerable to early delay in sibs-A with and without ASD outcomes. Non-ASD sibs-A are largely distributed across classes depicting average or accelerated development. Developmental trajectories of motor, language, and cognition appear independent of communication and social delays in non-ASD sibs-A. C1 [Landa, Rebecca J.] Johns Hopkins Univ, Ctr Autism & Related Disorders, Kennedy Krieger Inst, Sch Med, Baltimore, MD 21211 USA. [Gross, Alden L.; Stuart, Elizabeth A.] Johns Hopkins Bloomberg Sch Publ Hlth, Baltimore, MD USA. [Bauman, Margaret] Harvard Univ, Lurie Ctr LADDERS, Mass Gen Hosp Children, Sch Med, Baltimore, MD USA. RP Landa, RJ (reprint author), Johns Hopkins Univ, Ctr Autism & Related Disorders, Kennedy Krieger Inst, Sch Med, 3901 Greenspring Ave, Baltimore, MD 21211 USA. EM landa@kennedykrie-ger.org FU National Institute of Mental Health [MH59630, U54 MH066417-04] FX We thank the participants and staff at Kennedy Krieger Institute center for Autism and Related Disorders and the Lurie Center/LADDERS of the Mass General Hospital for Children for their help in data acquisition. All authors had full access to all of the data in the study; Dr. Landa takes responsibility for the integrity of the data; Drs. Gross and Stuart take responsibility for the accuracy of data analysis; Dr. Bauman takes responsibility for the integrity of the data collected at the LurieCenter/LADDERS. Funding from the National Institute of Mental Health, awarded to Rebecca Landa (PI): MH59630 (design; study conduct; data collection, management, analysis, interpretation; preparation, review, approval of manuscript), U54 MH066417-04 and Autism Speaks (data collection). The authors have no conflicts of interest to report. 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Feineis-Matthews, Sabine Valerian, Jennifer Teufel, Karoline Wilker, Christian TI The Frankfurt early intervention program FFIP for preschool aged children with autism spectrum disorder: a pilot study SO JOURNAL OF NEURAL TRANSMISSION LA English DT Article DE Autism spectrum disorder; Early intervention; Behaviour therapy; Outcome; Toddlers ID DIAGNOSTIC OBSERVATION SCHEDULE; INTENSIVE BEHAVIORAL TREATMENT; PERVASIVE DEVELOPMENTAL DISORDER; YOUNG-CHILDREN; MENTAL-RETARDATION; JOINT ATTENTION; GERMAN FORM; PREDICTORS; RELIABILITY; INTERVIEW AB Different early intervention programs, developed predominantly in the US, for preschool aged children with autism spectrum disorders (ASD) have been published. Several systematic review articles including a German Health Technology Assessment on behavioural and skill-based early interventions in children with ASD reported insufficient evidence and a substantial problem of generalisability to the German context. In Germany, approx. 2-5 h early intervention is supported by social services. Here, we report the results of a 1 year pre-post pilot study on a developmentally based social pragmatic approach, the Frankfurt Early Intervention program FFIP. In FFIP, individual 2:1, behaviourally and developmentally based therapy with the child is combined with parent training and training of kindergarten teachers. Treatment frequency is 2 h/week. Outcome measures were the Vineland Adaptive Behaviour Scales II (VABS), mental age and the ADOS severity score. Improvements after 1 year were observed for the VABS socialisation scale and the mental age quotient/IQ (medium effect sizes). Results are comparable with several other studies with a similar or slightly higher therapeutic intensity implementing comparable or different early intervention methods or programs. Compared to most high-intensity programs (30-40 h/week), lower cognitive gains were observed. Results have to be replicated and assessed by a randomized-controlled study before any final conclusions can be drawn. C1 [Freitag, Christine M.; Feineis-Matthews, Sabine; Valerian, Jennifer; Teufel, Karoline; Wilker, Christian] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany. RP Freitag, CM (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Deutschordenstr 50, D-60528 Frankfurt, Germany. 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NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0962-1105 J9 J SLEEP RES JI J. Sleep Res. PD SEP PY 2012 VL 21 SU 1 SI SI BP 1 EP 1 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 994VV UT WOS:000307963200004 ER PT J AU Bouvier, M Claustrat, B Franco, P AF Bouvier, M. Claustrat, B. Franco, P. TI Melatonin treatment in autism spectrum disorders (ASD): preliminary results SO JOURNAL OF SLEEP RESEARCH LA English DT Meeting Abstract CT 21st Congress of the European-Sleep-Research-Society CY SEP 04-08, 2012 CL Paris, FRANCE SP European Sleep Res Soc C1 [Bouvier, M.; Claustrat, B.; Franco, P.] Hosp Civils Lyon, Bron, France. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0962-1105 J9 J SLEEP RES JI J. Sleep Res. PD SEP PY 2012 VL 21 SU 1 SI SI BP 236 EP 236 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 994VV UT WOS:000307963201120 ER PT J AU Mao, AR AF Mao, Alice R. TI Factors That Contribute to Caregiver Burden for Parents of Children With Autism Spectrum Disorder or Aftention-Deficit/Hyperactivity Disorder SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Editorial Material ID SOCIAL SUPPORT; STRESS; MOTHERS; FAMILIES C1 [Mao, Alice R.] Baylor Coll Med, Dept Psychiat, Houston, TX 77007 USA. [Mao, Alice R.] DePelchin Childrens Ctr Houston, Houston, TX USA. RP Mao, AR (reprint author), Baylor Coll Med, Dept Psychiat, 550 Westcott,Suite 520, Houston, TX 77007 USA. EM Amao@bcm.edu CR ANASTOPOULOS AD, 1992, J ABNORM CHILD PSYCH, V20, P503, DOI 10.1007/BF00916812 Bromley J, 2004, AUTISM, V8, P409, DOI 10.1177/1362361304047224 Cadman T, 2012, J AM ACAD CHILD PSY, V51, P879, DOI 10.1016/j.jaac.2012.06.017 Casado B, 2012, J GERONTOL B-PSYCHOL, V67, P331, DOI 10.1093/geronb/gbr115 Gombosi PG, 1998, PSYCHOANAL STUD CHIL, V53, P254 Hastings RP, 2005, J AUTISM DEV DISORD, V35, P635, DOI 10.1007/s10803-005-0007-8 Higgins DJ, 2005, AUTISM, V9, P125, DOI 10.1177/1362361305051403 Lecavalier L, 2006, J INTELL DISABIL RES, V50, P172, DOI 10.1111/j.1365-2788.2005.00732.x Schieve LA, 2007, PEDIATRICS, V119, pS114, DOI 10.1542/peds.2006-2089Q Sivberg Bengt, 2002, Int J Circumpolar Health, V61 Suppl 2, P36 Turgay A, 2012, J CLIN PSYCHIAT, V73, P192, DOI 10.4088/JCP.10m06628 Weiss MJ, 2002, AUTISM, V6, P115, DOI 10.1177/1362361302006001009 Yates ME, 1999, J GERONTOL B-PSYCHOL, V54, pP12 Yirmiya N, 2005, J CHILD PSYCHOL PSYC, V46, P69, DOI 10.1111/j.1469-7610.2004.00334.x NR 14 TC 1 Z9 1 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0890-8567 J9 J AM ACAD CHILD PSY JI J. 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PD SEP PY 2012 VL 51 IS 9 BP 864 EP 866 DI 10.1016/j.jaac.2012.07.005 PG 3 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 995ZW UT WOS:000308054800004 PM 22917199 ER PT J AU Cadman, T Eklund, H Howley, D Hayward, H Clarke, H Findon, J Xenitidis, K Murphy, D Asherson, P Glaser, K AF Cadman, Tim Eklund, Hanna Howley, Deirdre Hayward, Hannah Clarke, Hanna Findon, James Xenitidis, Kiriakos Murphy, Declan Asherson, Philip Glaser, Karen TI Caregiver Burden as People With Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder Transition into Adolescence and Adulthood in the United Kingdom SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE caregiver burden; autism spectrum disorder; attention-deficit/hyperactivity disorder ID DEFICIT HYPERACTIVITY DISORDER; DIFFICULTIES QUESTIONNAIRE SDQ; YOUNG-ADULTS; MENTAL-HEALTH; DOWN-SYNDROME; FOLLOW-UP; CHILDREN; ADHD; COMMUNITY; STRENGTHS AB Objective: There is increasing recognition that autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are associated with significant costs and burdens. However, research on their impact has focused mostly on the caregivers of young children; few studies have examined caregiver burden as children transition into adolescence and young adulthood, and no one has compared the impact of ASD to other neurodevelopmental disorders (e.g., ADHD). Method: We conducted an observational study of 192 families caring for a young person (aged 14 to 24 years) with a childhood diagnosis of ASD or ADHD (n = 101 and n = 91, respectively) in the United Kingdom. A modified stress-appraisal model was used to investigate the correlates of caregiver burden as a function of family background (parental education), primary stressors (symptoms), primary appraisal (need), and resources (use of services). Results: Both disorders were associated with a high level of caregiver burden, but it was significantly greater in ASD. In both groups, caregiver burden was mainly explained by the affected young person's unmet need. Domains of unmet need most associated with caregiver burden in both groups included depression/anxiety and inappropriate behavior. Specific to ASD were significant associations between burden and unmet needs in domains such as social relationships and major mental health problems. Conclusions: Adolescence and young adulthood are associated with high levels of caregiver burden in both disorders; in ASD, the level is comparable to that reported by persons caring for individuals with a brain injury. Interventions are required to reduce caregiver burden in this population. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(9):879-888. C1 [Glaser, Karen] Kings Coll London, Dept Social Sci Hlth & Med, Strand WC2R 2LS, England. [Cadman, Tim; Eklund, Hanna; Howley, Deirdre; Hayward, Hannah; Clarke, Hanna; Findon, James; Murphy, Declan; Asherson, Philip] Kings Coll London, Inst Psychiat, Strand WC2R 2LS, England. [Xenitidis, Kiriakos] Bethlem Royal & Maudsley Hosp, Neurodev Disorders Serv, London, England. [Xenitidis, Kiriakos] Maudsley Hosp & Inst Psychiat, Adult Attent Deficit Hyperact Disorder ADHD Serv, London, England. RP Glaser, K (reprint author), Kings Coll London, Dept Social Sci Hlth & Med, Strand WC2R 2LS, England. EM karen.glaser@kcl.ac.uk FU National Institute for Health Research (NIHR) Programme Grants for Applied Research (PGfAR); National Institute for Health Research Biomedical Research Centre for Mental Health at King's College London; Institute of Psychiatry; South London and Maudsley National Health Service Foundation Trust FX The research was funded by the National Institute for Health Research (NIHR) Programme Grants for Applied Research (PGfAR). The authors alone bear responsibility for the collection, analysis, and interpretation of the data. Funding was also provided by The National Institute for Health Research Biomedical Research Centre for Mental Health at King's College London, Institute of Psychiatry, and South London and Maudsley National Health Service Foundation Trust. CR Abbeduto L, 2004, AM J MENT RETARD, V109, P237, DOI 10.1352/0895-8017(2004)109<237:PWACIM>2.0.CO;2 Able SL, 2007, PSYCHOL MED, V37, P97, DOI 10.1017/S0033291706008713 ANASTOPOULOS AD, 1992, J ABNORM CHILD PSYCH, V20, P503, DOI 10.1007/BF00916812 ANDERSON CS, 1995, STROKE, V26, P843 Baird G, 2006, LANCET, V368, P210, DOI 10.1016/S0140-6736(06)69041-7 BallabanGil K, 1996, PEDIATR NEUROL, V15, P217, DOI 10.1016/S0887-8994(96)00219-6 Barkley R, 2009, ADHD ADULTS DIAGNOSI Barkley R. 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Am. Acad. Child Adolesc. Psychiatr. PD SEP PY 2012 VL 51 IS 9 BP 879 EP 888 DI 10.1016/j.jaac.2012.06.017 PG 10 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 995ZW UT WOS:000308054800006 PM 22917201 ER PT J AU Hazlett, HC Poe, MD Lightbody, AA Styner, M MacFall, JR Reiss, AL Piven, J AF Hazlett, Heather Cody Poe, Michele D. Lightbody, Amy A. Styner, Martin MacFall, James R. Reiss, Allan L. Piven, Joseph TI Trajectories of Early Brain Volume Development in Fragile X Syndrome and Autism SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE fragile X syndrome; autism; children; brain MRI; brain volume ID FMR1 KNOCKOUT MICE; IDIOPATHIC AUTISM; YOUNG BOYS; MR-IMAGES; DISORDERS; BEHAVIOR; CHILDHOOD; PHENOTYPE; ADULTS; AGE AB Objective: To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared with a comparison group (controls) and a group with idiopathic autism. Method: The study included 53 boys 18 to 42 months of age with FXS, 68 boys with idiopathic autism (autism spectrum disorder), and a comparison group of 50 typically developing and developmentally delayed controls. Structural brain volumes were examined using magnetic resonance imaging across two time points, at 2 to 3 and again at 4 to 5 years of age, and total brain volumes and regional (lobar) tissue volumes were examined. In addition, a selected group of subcortical structures implicated in the behavioral features of FXS (e.g., basal ganglia, hippocampus, amygdala) was studied. Results: Children with FXS had larger global brain volumes compared with controls but were not different than children with idiopathic autism, and the rate of brain growth from 2 to 5 years of age paralleled that seen in controls. In contrast to children with idiopathic autism who had generalized cortical lobe enlargement, children with FXS showed specific enlargement in the temporal lobe white matter, cerebellar gray matter, and caudate nucleus, but a significantly smaller amygdala. Conclusions: This structural longitudinal magnetic resonance imaging study of preschoolers with FXS observed generalized brain overgrowth in children with FXS compared with controls, evident at age 2 and maintained across ages 4 to 5. In addition, different patterns of brain growth that distinguished boys with FXS from boys with idiopathic autism were found. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(9):921-933. C1 [Hazlett, Heather Cody; Piven, Joseph] UNC, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA. [Poe, Michele D.] Frank Graham Child Dev Inst, Chapel Hill, NC USA. [Lightbody, Amy A.; Reiss, Allan L.] Stanford Univ, Sch Med, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA. 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Collins, Melanie Lopez, Linda Weinfeld, Melanie Carter, Cindy Schork, Nicholas Pierce, Karen Courchesne, Eric TI Blood-Based Gene Expression Signatures of Infants and Toddlers With Autism SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE autism; biomarker; classifier; microarray; support vector machine ID LYMPHOBLASTOID CELL-LINES; SPECTRUM DISORDERS; PROFILES; VALIDITY; BRAIN; SCHIZOPHRENIA; TRANSCRIPTOME; INDIVIDUALS; PATHWAYS; SYSTEM AB Objective: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged. Method: Using a community-based, prospective, longitudinal method, we identified 60 infants and toddlers at risk for ASDs (autistic disorder and pervasive developmental disorder), 34 at-risk for language delay, 17 at-risk for global developmental delay, and 68 typically developing comparison children. Diagnoses were confirmed via longitudinal follow-up. Each child's mRNA expression profile in peripheral blood mononuclear cells was determined by microarray. Results: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample. Conclusions: The mRNA expression abnormalities reliably observed in peripheral blood mononuclear cells, which are safely and easily assayed in infants, offer the first potential peripheral blood based, early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate whether they may also serve as indirect indices of deviant molecular neural mechanisms in autism. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(9):934-944. C1 [Glatt, Stephen J.] SUNY Upstate Med Univ, Psychiat Genet Epidemiol & Neurobiol Lab PsychGEN, Med Genet Res Ctr, Syracuse, NY 13210 USA. [Tsuang, Ming T.] Harvard Univ, Harvard Inst Psychiat Epidemiol & Genet, Sch Publ Hlth, Cambridge, MA 02138 USA. [Tsuang, Ming T.] Harvard Univ, Sch Med, Cambridge, MA 02138 USA. [Tsuang, Ming T.; Chandler, Sharon D.; Collins, Melanie] Univ Calif San Diego, Ctr Behav Genom, La Jolla, CA 92093 USA. [Tsuang, Ming T.] Univ Calif San Diego, Vet Affairs San Diego Healthcare Syst, La Jolla, CA 92093 USA. [Tsuang, Ming T.] Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA. [Lopez, Linda; Weinfeld, Melanie; Carter, Cindy; Pierce, Karen; Courchesne, Eric] Univ Calif San Diego, Autism Ctr Excellences, La Jolla, CA 92093 USA. [Winn, Mary; Schork, Nicholas] Univ Calif San Diego, Scripps Translat Sci Inst, La Jolla, CA 92093 USA. RP Glatt, SJ (reprint author), SUNY Upstate Med Univ, Psychiat Genet Epidemiol & Neurobiol Lab PsychGEN, Med Genet Res Ctr, 750 E Adams St, Syracuse, NY 13210 USA. EM glatts@upstate.edu FU U.S. National Institutes of Health (NIH) [P50MH081755, R01MH080134, R21MH075027, U19AG023122, R01MH078151, N01MH22005, U01DA024417, UL1RR025774, RC2DA029475, R01AG031224, U54NS056883, P50MH081755-0003]; Price Foundation, Scripps Genomic Medicine; Sidney R. Baer, Jr. Foundation; Brain and Behavior Research Foundation (NARSAD) FX This work was supported in part by U.S. National Institutes of Health (NIH) grants P50MH081755, R01MH080134, R21MH075027, U19AG023122, R01MH078151, N01MH22005, U01DA024417, UL1RR025774, RC2DA029475, R01AG031224, U54NS056883, and P50MH081755-0003, the Price Foundation, Scripps Genomic Medicine, the Sidney R. Baer, Jr. Foundation, and the Brain and Behavior Research Foundation (NARSAD). 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Am. Acad. Child Adolesc. Psychiatr. PD SEP PY 2012 VL 51 IS 9 BP 934 EP 944 DI 10.1016/j.jaac.2011.07.007 PG 11 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 995ZW UT WOS:000308054800011 PM 22917206 ER PT J AU Goodson, B Williamson, E AF Goodson, Bradley Williamson, Edwin TI Practical Social Skills for Autism Spectrum Disorders: Designing Child-Specific Interventions SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Book Review C1 [Goodson, Bradley; Williamson, Edwin] Vanderbilt Univ, Nashville, TN 37235 USA. RP Goodson, B (reprint author), Vanderbilt Univ, Nashville, TN 37235 USA. EM edwin.williamson@vanderbilt.edu CR Centers for Disease Control and Prevention Division of News and Electronic Media, CDC EST 1 88 CHILDR Koenig K., 2012, PRACTICAL SOCIAL SKI NR 2 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0890-8567 J9 J AM ACAD CHILD PSY JI J. Am. Acad. Child Adolesc. Psychiatr. PD SEP PY 2012 VL 51 IS 9 BP 954 EP 956 DI 10.1016/j.jaac.2012.07.015 PG 3 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 995ZW UT WOS:000308054800017 ER PT J AU Fields, C AF Fields, Chris TI Do autism spectrum disorders involve a generalized object categorization and identification dysfunction? SO MEDICAL HYPOTHESES LA English DT Article ID MIRROR NEURON SYSTEM; HIGH-FUNCTIONING AUTISM; BRAINS DEFAULT NETWORK; BIOLOGICAL MOTION; FETAL TESTOSTERONE; CHANGE BLINDNESS; SEX-DIFFERENCES; MIND; CONSEQUENCES; RECOGNITION AB Experience-dependent learning of feature-based object categories, including entry-level categories such as "human being" and more specialized categories such as "family member", "pet" or "toy", is required to support correct object re-identification over time and hence to support social bonding, language learning, and the development of general life skills. It is hypothesized that activity imbalances between motion-analyzing and feature-analyzing components of the visuo-motor system resulting in hyper-activation of parahippocampal cortex relative to perirhinal cortex during the initial period of experience-dependent category learning in early infancy could lead to the construction of object categories dominated by trajectory information as opposed to feature information. It is shown that the deployment of trajectory-dominated object categories would disrupt normal object re-identification and produce developmental outcomes consistent with both the recognized symptoms and experimentally characterized cognitive-behavioral phenotypes of autism spectrum disorders. Further experiments to test the hypothesis and its potential clinical relevance are discussed. (C) 2012 Elsevier Ltd. All rights reserved. RP Fields, C (reprint author), 815 E Palace Ave,14, Santa Fe, NM 87501 USA. 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TI Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder SO MOLECULAR PSYCHIATRY LA English DT Article DE schizophrenia; bipolar disorder; genetic; genome-wide association; major histocompatibility complex; copy number variation ID COMMON VARIANTS; COPY NUMBER; CONFERRING RISK; INCREASE RISK; 16P11.2; DELETIONS; AUTISM; GENES; REARRANGEMENTS; MICRODELETION AB Schizophrenia (SCZ) and bipolar disorder (BD) are highly heritable psychiatric disorders with overlapping susceptibility loci and symptomatology. We conducted a genome-wide association study (GWAS) of these disorders in a large Swedish sample. We report a new and independent case-control analysis of 1507 SCZ cases, 836 BD cases and 2093 controls. No single-nucleotide polymorphisms (SNPs) achieved significance in these new samples; however, combining new and previously reported SCZ samples (2111 SCZ and 2535 controls) revealed a genome-wide significant association in the major histocompatibility complex (MHC) region (rs886424, P = 4.54 x 10(-8)). Imputation using multiple reference panels and meta-analysis with the Psychiatric Genomics Consortium SCZ results underscored the broad, significant association in the MHC region in the full SCZ sample. We evaluated the role of copy number variants (CNVs) in these subjects. As in prior reports, deletions were enriched in SCZ, but not BD cases compared with controls. Singleton deletions were more frequent in both case groups compared with controls (SCZ: P = 0.003, BD: P = 0.013), whereas the largest CNVs (>500 kb) were significantly enriched only in SCZ cases (P = 0.0035). Two CNVs with previously reported SCZ associations were also overrepresented in this SCZ sample: 16p11.2 duplications (P = 0.0035) and 22q11 deletions (P = 0.03). These results reinforce prior reports of significant MHC and CNV associations in SCZ, but not BD. C1 [Bergen, S. E.; O'Dushlaine, C. T.; Lee, P. H.; Ruderfer, D. M.; Purcell, S. M.; Sklar, P.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. [Bergen, S. E.; O'Dushlaine, C. T.; Ripke, S.; Lee, P. H.; Ruderfer, D. M.; Moran, J. L.; Chambert, K. D.; Handsaker, R. E.; McCarroll, S.; Scolnick, E. M.; Purcell, S. M.; Sklar, P.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA. [O'Dushlaine, C. T.; Ripke, S.; Lee, P. H.; Ruderfer, D. M.; Purcell, S. M.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA. [Akterin, S.; Landen, M.; Magnusson, P. K. E.; Lichtenstein, P.; Hultman, C. M.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. [Handsaker, R. E.; McCarroll, S.] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA. [Backlund, L.; Osby, U.] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden. [Landen, M.] Univ Gothenburg, Inst Neurosci & Physiol, Gothenburg, Sweden. [Purcell, S. M.; Sklar, P.] Mt Sinai Sch Med, Dept Psychiat, Div Psychiat Genom, New York, NY USA. [Sullivan, P. F.] Univ N Carolina, Dept Genet, Chapel Hill, NC USA. [Sullivan, P. F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. [Sullivan, P. F.] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC USA. RP Bergen, SE (reprint author), Broad Inst, 7 Cambridge Ctr,6055H, Cambridge, MA 02142 USA. EM sbergen@gmail.com RI Bergen, Sarah/I-8313-2012 FU Stanley Center for Psychiatric Research; Stanley Medical Research Institute; NIMH [MH077139]; Karolinska Institutet, Karolinska University Hospital; Swedish Research Council; Swedish County Council; Soderstrom Konigska Foundation FX We are deeply grateful for the participation of all subjects contributing to this research, and to the collection team that worked to recruit them: Emma Flordal-Thelander, Ann-Britt Holmgren, Marie Hallin, Marie Lundin, Ann-Kristin Sundberg, Christina Pettersson, Radja Satgunanthan-Dawoud, Sonja Hassellund, Malin Radstrom, Birgitta Ohlander, Leila Nyren, Isabelle Kizling, Louise Frisen, Inger Rohmer, Catharina Lavebratt, Malin Karn, Martina Wennberg and Agneta Carsward-Kjellin. We would also like to thank Professor Martin Schalling for facilitating collection of many subjects with BD. Funding support was provided by the Stanley Center for Psychiatric Research, Broad Institute from a grant from Stanley Medical Research Institute, NIMH MH077139 (PFS), the Karolinska Institutet, Karolinska University Hospital, the Swedish Research Council, ALF grant from Swedish County Council and Soderstrom Konigska Foundation. 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Psychiatr. PD SEP PY 2012 VL 17 IS 9 BP 880 EP 886 DI 10.1038/mp.2012.73 PG 7 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA 996DI UT WOS:000308063900005 PM 22688191 ER PT J AU Ayalew, M Le-Niculescu, H Levey, DF Jain, N Changala, B Patel, SD Winiger, E Breier, A Shekhar, A Amdur, R Koller, D Nurnberger, JI Corvin, A Geyer, M Tsuang, MT Salomon, D Schork, NJ Fanous, AH O'Donovan, MC Niculescu, AB AF Ayalew, M. Le-Niculescu, H. Levey, D. F. Jain, N. Changala, B. Patel, S. D. Winiger, E. Breier, A. Shekhar, A. Amdur, R. Koller, D. Nurnberger, J. I. Corvin, A. Geyer, M. Tsuang, M. T. Salomon, D. Schork, N. J. Fanous, A. H. O'Donovan, M. C. Niculescu, A. B. TI Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction SO MOLECULAR PSYCHIATRY LA English DT Article DE biomarkers; convergent functional genomics; genetic risk prediction; pathways; schizophrenia ID DORSOLATERAL PREFRONTAL CORTEX; MESSENGER-RNA EXPRESSION; CAUSES DIFFERENTIAL EXPRESSION; CATECHOL-O-METHYLTRANSFERASE; ANTERIOR CINGULATE CORTEX; FAMILY-BASED ASSOCIATION; SUPERIOR TEMPORAL GYRUS; 22Q11 DELETION SYNDROME; MAJOR MENTAL ILLNESSES; CASE-CONTROL SAMPLES AB We have used a translational convergent functional genomics (CFG) approach to identify and prioritize genes involved in schizophrenia, by gene-level integration of genome-wide association study data with other genetic and gene expression studies in humans and animal models. Using this polyevidence scoring and pathway analyses, we identify top genes (DISC1, TCF4, MBP, MOBP, NCAM1, NRCAM, NDUFV2, RAB18, as well as ADCYAP1, BDNF, CNR1, COMT, DRD2, DTNBP1, GAD1, GRIA1, GRIN2B, HTR2A, NRG1, RELN, SNAP-25, TNIK), brain development, myelination, cell adhesion, glutamate receptor signaling, G-protein-coupled receptor signaling and cAMP-mediated signaling as key to pathophysiology and as targets for therapeutic intervention. Overall, the data are consistent with a model of disrupted connectivity in schizophrenia, resulting from the effects of neurodevelopmental environmental stress on a background of genetic vulnerability. In addition, we show how the top candidate genes identified by CFG can be used to generate a genetic risk prediction score (GRPS) to aid schizophrenia diagnostics, with predictive ability in independent cohorts. The GRPS also differentiates classic age of onset schizophrenia from early onset and late-onset disease. We also show, in three independent cohorts, two European American and one African American, increasing overlap, reproducibility and consistency of findings from single-nucleotide polymorphisms to genes, then genes prioritized by CFG, and ultimately at the level of biological pathways and mechanisms. Finally, we compared our top candidate genes for schizophrenia from this analysis with top candidate genes for bipolar disorder and anxiety disorders from previous CFG analyses conducted by us, as well as findings from the fields of autism and Alzheimer. Overall, our work maps the genomic and biological landscape for schizophrenia, providing leads towards a better understanding of illness, diagnostics and therapeutics. It also reveals the significant genetic overlap with other major psychiatric disorder domains, suggesting the need for improved nosology. C1 [Ayalew, M.; Le-Niculescu, H.; Levey, D. F.; Jain, N.; Changala, B.; Patel, S. D.; Winiger, E.; Breier, A.; Shekhar, A.; Nurnberger, J. I.; Niculescu, A. B.] Indiana Univ Sch Med, Dept Psychiat, Indianapolis, IN 46202 USA. [Ayalew, M.; Niculescu, A. B.] Indianapolis VA Med Ctr, Indianapolis, IN 46202 USA. [Amdur, R.; Fanous, A. H.] Washington DC VA Med Ctr, Washington, DC USA. [Koller, D.] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA. [Corvin, A.] Trinity Coll Dublin, Dept Psychiat, Dublin, Ireland. [Geyer, M.; Tsuang, M. T.] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA. [Salomon, D.; Schork, N. J.] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA. [O'Donovan, M. C.] Cardiff Univ, Dept Psychol Med, Cardiff, S Glam, Wales. RP Niculescu, AB (reprint author), Indiana Univ Sch Med, Dept Psychiat, 791 Union Dr, Indianapolis, IN 46202 USA. EM anicules@iupui.edu RI Niculescu, Alexander/A-3328-2012 FU NIH Directors' New Innovator Award [1DP2OD007363]; VA Merit Award [1I01CX000139-01] FX This work is, in essence, a field-wide collaboration. We would like to acknowledge our debt of gratitude for the efforts and results of the many other groups, cited in our paper, who have conducted and published empirical studies (human and animal model, genetic and gene expression) in schizophrenia. With their arduous and careful work, a convergent approach such as ours is possible. We would particularly like to thank the ISC and GAIN consortia. We would also like to thank the subjects who participated in these studies, their families and their caregivers. Without their contribution, such work to advance the understanding of mental illness would not be possible. Finally, we would like to acknowledge Elyn Saks for her insightful memoir, which inspired the Yeats quote at the beginning of the paper. This work was supported by an NIH Directors' New Innovator Award (1DP2OD007363) and a VA Merit Award (1I01CX000139-01) to ABN. 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MOL PSYCHIATR JI Mol. Psychiatr. PD SEP PY 2012 VL 17 IS 9 BP 887 EP 905 DI 10.1038/mp.2012.37 PG 19 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA 996DI UT WOS:000308063900006 PM 22584867 ER PT J AU Robinson, SJ AF Robinson, Sally J. TI Childhood Epilepsy and Autism Spectrum Disorders: Psychiatric Problems, Phenotypic Expression, and Anticonvulsants SO NEUROPSYCHOLOGY REVIEW LA English DT Review DE Pervasive developmental disorder; Asperger syndrome; Antiepileptic; Depression; Anxiety; ADHD; Cognitive functioning ID PLACEBO-CONTROLLED TRIAL; ONSET EPILEPSY; DOUBLE-BLIND; DEVELOPMENTAL DISORDERS; DIVALPROEX SODIUM; ASPERGER-SYNDROME; SPECIAL NEEDS; PROJECT SNAP; CHILDREN; POPULATION AB Epilepsy and autism spectrum disorders (ASDs) frequently co-occur during childhood, however, the characteristics of psychiatric or behavioural problems in these children remains largely unknown. This article contributes to these discussions by reporting on the prevalence and presentation of psychiatric or behavioural problems in children with epilepsy and ASDs, as well as on the use of anticonvulsants in these children. The current evidence suggests that children with epilepsy and ASDs may present with a distinct clinical profile, with a greater number of developmental difficulties, and a more severe expression of the ASD phenotype that can not solely be accounted for by level of intellectual functioning. Positive effects of anticonvulsants on behavioural symptoms associated with ASDs were also reported, though pharmacoresistance and a lack of clear treatment guidelines may contribute to an elevated risk of adverse side effects. In relation to clinical presentation and management there is a need for careful consideration of potential interaction effects between disorder specific factors (e.g., age of seizure onset/ASD diagnosis), cognitive characteristics (e.g., intellectual functioning, memory), and psychosocial variables (e.g., coping strategies). Ultimately however, many conclusions are tentative and this review highlights the need for more empirically validated research on children with epilepsy and ASDs. C1 St Thomas Hosp, Childrens Neurosci Ctr, London SE1 7EH, England. RP Robinson, SJ (reprint author), St Thomas Hosp, Childrens Neurosci Ctr, Westminster Bridge Rd, London SE1 7EH, England. EM sally.robinson@gstt.nhs.uk CR Achenbach T. 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Rev. PD SEP PY 2012 VL 22 IS 3 BP 271 EP 279 DI 10.1007/s11065-012-9212-3 PG 9 WC Psychology, Clinical; Neurosciences SC Psychology; Neurosciences & Neurology GA 998MU UT WOS:000308244700004 PM 22875726 ER PT J AU Stigler, KA Mullett, JE Erickson, CA Posey, DJ McDougle, CJ AF Stigler, Kimberly A. Mullett, Jennifer E. Erickson, Craig A. Posey, David J. McDougle, Christopher J. TI Paliperidone for irritability in adolescents and young adults with autistic disorder SO PSYCHOPHARMACOLOGY LA English DT Article DE Autistic disorder; Irritability; Paliperidone ID PERVASIVE DEVELOPMENTAL DISORDERS; EXTENDED-RELEASE TABLETS; ABERRANT BEHAVIOR CHECKLIST; DOUBLE-BLIND; DIAGNOSTIC INTERVIEW; ACUTE SCHIZOPHRENIA; SPECTRUM DISORDERS; POOLED DATA; OPEN-LABEL; CHILDREN AB Individuals with autistic disorder (autism) frequently exhibit significant irritability marked by severe tantrums, aggression, and self-injury. Despite advances in the treatment of this symptom domain in autism, there remains an ongoing need for more effective and better tolerated pharmacotherapies. The aim of this study is to determine the effectiveness and tolerability of paliperidone for irritability in autism. This is a prospective, 8-week open-label study of paliperidone in 25 adolescents and young adults with autism. Primary outcome measures included the Clinical Global Impressions-Improvement (CGI-I) Scale and the Irritability subscale of the Aberrant Behavior Checklist (ABC-I). Concomitant medications (except antipsychotics) were permitted if dosages were stable for a parts per thousand yen2 months. Twenty-one (84 %) of 25 subjects ages 12-21 years (mean 15.3 years) responded to paliperidone, based on a CGI-I Scale score of 1 or 2 (very much or much improved) and a parts per thousand yen25 % improvement on the ABC-I. The mean final dosage of paliperidone was 7.1 mg/day (range 3-12 mg/day). Two subjects discontinued paliperidone prior to study completion (moderate sedation, n = 1; nonresponse, n = 1). Mild-to-moderate extrapyramidal symptoms were recorded in four subjects. A mean weight gain of 2.2 +/- 2.6 kg (range -3.6 to +7.9 kg) was recorded. Mean age- and sex-normed body mass index increased from 23.6 to 24.2 (p a parts per thousand currency signaEuro parts per thousand 0.001). Mean serum prolactin increased from 5.3 to 41.4 ng/mL (p a parts per thousand currency signaEuro parts per thousand 0.0001). Paliperidone treatment was associated with significant improvement in irritability and was generally well tolerated. Larger scale, placebo-controlled studies are needed to elucidate the efficacy and tolerability of paliperidone in this population. C1 [Stigler, Kimberly A.; Mullett, Jennifer E.; Erickson, Craig A.; Posey, David J.; McDougle, Christopher J.] Indiana Univ Sch Med, Sect Child & Adolescent Psychiat, Christian Sarkine Autism Treatment Ctr, James Whitcomb Riley Hosp Children,Dept Psychiat, Indianapolis, IN 46202 USA. RP Stigler, KA (reprint author), Indiana Univ Sch Med, Sect Child & Adolescent Psychiat, Christian Sarkine Autism Treatment Ctr, James Whitcomb Riley Hosp Children,Dept Psychiat, 705 Riley Hosp Dr, Indianapolis, IN 46202 USA. EM kstigler@iupui.edu FU Daniel X. and Mary Freedman Fellowship in Academic Psychiatry; Janssen Scientific Affairs, L.L.C.; National Institute of Mental Health (NIMH) [K23 MH082119]; Indiana Division of Developmental Disability and Rehabilitative Services; NIMH [R01 MH072964] FX This study was supported, in part, by a Daniel X. and Mary Freedman Fellowship in Academic Psychiatry (Dr. Stigler), an investigator-initiated research grant from Janssen Scientific Affairs, L.L.C. (Dr. Stigler), a Career Development Award (K23 MH082119) from the National Institute of Mental Health (NIMH) (Dr. Stigler), the Indiana Division of Developmental Disability and Rehabilitative Services (Drs. McDougle and Erickson), and a research grant (R01 MH072964) from the NIMH (Dr. McDougle). 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TI Therapist Perspectives on Community Mental Health Services for Children with Autism Spectrum Disorders SO ADMINISTRATION AND POLICY IN MENTAL HEALTH AND MENTAL HEALTH SERVICES RESEARCH LA English DT Article DE Provider perspectives; Autism spectrum disorders; Evidence-based practices ID DISRUPTIVE BEHAVIOR PROBLEMS; PSYCHIATRIC-DISORDERS; CARE; YOUTH; INTERVENTION; COMORBIDITY; POPULATION; PREVALENCE; KNOWLEDGE; WORKING AB This mixed methods study examined therapist perspectives on serving children with autism spectrum disorders (ASD) in community mental health (CMH) clinics. One hundred therapists completed a survey about their experiences with this population and 17 participated in subsequent focus groups to clarify and expand survey results. Results indicate that CMH therapists serve many children with ASD for behavior or other psychiatric problems and perceive serving this population as challenging and frustrating due to their limited training. 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C., 2005, FOCUS AUTISM OTHER D, V20, P66, DOI DOI 10.1177/1088357 Stahmer AC, 2007, J AUTISM DEV DISORD, V37, P1344, DOI 10.1007/s10803-006-0284-x Westfall JM, 2007, JAMA-J AM MED ASSOC, V297, P403, DOI 10.1001/jama.297.4.403 NR 40 TC 5 Z9 6 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0894-587X J9 ADM POLICY MENT HLTH JI Adm. Policy. Ment. Health PD SEP PY 2012 VL 39 IS 5 BP 365 EP 373 DI 10.1007/s10488-011-0355-y PG 9 WC Health Policy & Services; Public, Environmental & Occupational Health SC Health Care Sciences & Services; Public, Environmental & Occupational Health GA 985QS UT WOS:000307284000004 PM 21533846 ER PT J AU Boutte, D Calhoun, VD Chen, JY Sabbineni, A Hutchison, K Liu, JY AF Boutte, David Calhoun, Vince D. Chen, Jiayu Sabbineni, Amithrupa Hutchison, Kent Liu, Jingyu TI Association of genetic copy number variations at 11 q14.2 with brain regional volume differences in an alcohol use disorder population SO ALCOHOL LA English DT Article DE Copy number variations; Structural MRI; Genetics; Alcohol dependence ID AUTISM SPECTRUM DISORDERS; SURFACE-BASED ANALYSIS; CORTICAL GRAY-MATTER; SEROTONIN TRANSPORTER; DEPENDENCE FAMILIES; CEREBELLAR VOLUME; HUMAN GENOME; IDENTIFICATION; SCHIZOPHRENIA; COMORBIDITY AB This study investigates the relationship between genetic copy number variations and brain volume differences in an alcohol use disorder (AUD) population. We hypothesized that copy number variations may influence subject's risk for alcohol use disorders through variations in regional gray and white matter brain volumes. Since genetic influences upon behavior are the result of many complicated interactions we focus on differences in brain volume as a putative intermediate phenotype between genetic variation and behavior. Copy number variation, alcohol use assessments and brain structural magnetic resonance images from 283 subjects, 199 male and 84 females who were enrolled in two AUD studies were obtained and analyzed using a combination of the Freesurfer image analysis suite and independent component analysis. Because brain volume varies by age we compared participant's volume variation with that derived from a control cohort of 75 subjects. In addition we also regressed out the possible brain volume changes induced by long term alcohol consumption. Small cerebral cortex, cerebellar and caudate along with large cerebral white matter and 5th ventricle volumes are shown to be significantly associated with increased AUD severity. When these volume variations are compared with control subject volumes; the variations seen in subjects with AUD are markedly different from normal aging effects. CNVs at 11 q14.2 are marginally (p < 0.05 uncorrected) correlated with such brain volume variations and the correlation holds true after controlling for long-term alcohol consumption; deletion carriers have smaller cerebral cortex, cerebellar, caudate and larger cerebral white matter and 5th ventricle volumes than insertion carriers or subjects with no variation in this region. Similarly, deletion carriers also demonstrate higher AUD severity scores than insertion carriers or subjects with no variation. The results presented here suggest that copy number variation and in particular the variation at chromosome 11 q14.2 may have an impact in brain volume variation, potentially influencing AUD behavior. (c) 2012 Elsevier Inc. All rights reserved. C1 [Boutte, David; Calhoun, Vince D.; Chen, Jiayu; Sabbineni, Amithrupa; Hutchison, Kent; Liu, Jingyu] Mind Res Network, Albuquerque, NM 87106 USA. [Calhoun, Vince D.; Chen, Jiayu; Liu, Jingyu] Univ New Mexico, Dept Elect & Comp Engn, Albuquerque, NM 87106 USA. [Sabbineni, Amithrupa; Hutchison, Kent] Univ Colorado, Dept Psychol & Neurosci, Boulder, CO 80302 USA. RP Boutte, D (reprint author), Mind Res Network, 1101 Yale Blvd NE, Albuquerque, NM 87106 USA. EM dboutte@mrn.org FU National Institutes of Health [1R21DA027626] FX We are grateful for the help of the MRN Genetics' Lab provided in collecting the genetic data. This work was supported by grant 1R21DA027626 from the National Institutes of Health. 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Ascanio-Velasco, Lourdes TI Treatment results in a case of Asperger disorder SO BEHAVIORAL PSYCHOLOGY-PSICOLOGIA CONDUCTUAL LA Spanish DT Article DE Asperger's disorder; social skills; treatment; generalization ID SOCIAL-SKILLS INTERVENTIONS; HIGH-FUNCTIONING CHILDREN; AUTISM SPECTRUM; ADOLESCENTS AB This article reports on the treatment of an 8-year-old boy who fulfilled the DSM-IV-TR diagnostic criteria for Asperger disorder (APA, 2000). The boy had poor concentration, disobedience and social skills deficits along with problem behaviors. Training in social skills was used together with a multiple-setting intervention for other contexts (parent training and teacher's cooperation in the school context). The boy's parents used a token economy in the family context and were advised to carry out home-based activities intended to facilitate generalization. After treatment he achieved the planned objectives. His improvements were observed by his teacher and parents and were reflected in test results ("Multifactorial Childhood Adaption Evaluation Test" and "Assertive Behavior Scale for Children"). In addition, there was generalization to other behaviors that were not directly treated, as shown by the disappearance of aggressive behaviors. Therefore, this behavioral intervention demonstrated its effectiveness. C1 [Carmen Vives-Montero, M.] Univ Granada, Fac Psicol, E-18071 Granada, Spain. [Ascanio-Velasco, Lourdes] Ctr Psicol CEDI Granada, Granada, Spain. RP Vives-Montero, MC (reprint author), Univ Granada, Fac Psicol, Campus Cartuja S-N, E-18071 Granada, Spain. 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TI Intact and impaired executive abilities in the BTBR mouse model of autism SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Autism; Mice; Executive functions; Cognitive control; Response inhibition; Discrimination learning ID T PLUS TF/J; COGNITIVE CONTROL; SPECTRUM DISORDERS; CORPUS-CALLOSUM; INBRED STRAINS; MICE; DISC1; DISCRIMINATION; BEHAVIOR; CORTEX AB BTBR T + tf/J (BTBR) inbred mice are frequently used as a model of autism spectrum disorders (ASD) as they display social deficits and repetitive behaviors that resemble the symptoms of the human syndrome. Since deficits on tasks that measure cognitive (executive) control are also reliable phenotypes in ASD, we wanted to determine whether executive abilities were compromised in the mouse model. BTBR mice were trained on two visual discrimination paradigms requiring differing degrees of cognitive control. 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Kemper, Thomas L. King, Bryan H. Martin, Loren A. Millen, Kathleen J. Mittleman, Guy Mosconi, Matthew W. Persico, Antonio M. Sweeney, John A. Webb, Sara J. Welsh, John P. TI Consensus Paper: Pathological Role of the Cerebellum in Autism SO CEREBELLUM LA English DT Review DE Cerebellum; Autism ID FRAGILE-X-SYNDROME; FUNCTIONAL MAGNETIC-RESONANCE; PERVASIVE DEVELOPMENTAL DISORDERS; LYMPHOCYTE CYTOKINE PROFILES; PURKINJE-CELL DEGENERATION; TUBEROUS SCLEROSIS COMPLEX; RECEPTOR TYROSINE KINASE; LHERMITTE-DUCLOS-DISEASE; GAMMA-AMINOBUTYRIC-ACID; MESSENGER-RNA LEVELS AB There has been significant advancement in various aspects of scientific knowledge concerning the role of cerebellum in the etiopathogenesis of autism. In the current consensus paper, we will observe the diversity of opinions regarding the involvement of this important site in the pathology of autism. Recent emergent findings in literature related to cerebellar involvement in autism are discussed, including: cerebellar pathology, cerebellar imaging and symptom expression in autism, cerebellar genetics, cerebellar immune function, oxidative stress and mitochondrial dysfunction, GABAergic and glutamatergic systems, cholinergic, dopaminergic, serotonergic, and oxytocin-related changes in autism, motor control and cognitive deficits, cerebellar coordination of movements and cognition, gene-environment interactions, therapeutics in autism, and relevant animal models of autism. Points of consensus include presence of abnormal cerebellar anatomy, abnormal neurotransmitter systems, oxidative stress, cerebellar motor and cognitive deficits, and neuroinflammation in subjects with autism. Undefined areas or areas requiring further investigation include lack of treatment options for core symptoms of autism, vermal hypoplasia, and other vermal abnormalities as a consistent feature of autism, mechanisms underlying cerebellar contributions to cognition, and unknown mechanisms underlying neuroinflammation. C1 [Fatemi, S. Hossein] Univ Minnesota, Sch Med, Minneapolis, MN 55455 USA. [Aldinger, Kimberly A.] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Los Angeles, CA 90033 USA. [Ashwood, Paul] Univ Calif Davis, Dept Med Microbiol & Immunol, Med Invest Neurodev Disorders MIND Inst, Davis, CA 95616 USA. [Bauman, Margaret L.] Harvard Univ, Sch Med, Boston, MA USA. [Bauman, Margaret L.] Massachusetts Gen Hosp, Dept Pediat & Neurol, Boston, MA 02114 USA. [Blaha, Charles D.; Dickson, Price E.; Mittleman, Guy] Univ Memphis, Dept Psychol, Memphis, TN 38152 USA. [Blatt, Gene J.; Kemper, Thomas L.] Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA. [Chauhan, Abha; Chauhan, Ved] NYS Inst Basic Res Dev Disabil, Staten Isl, NY USA. [Dager, Stephen R.] Univ Washington, Dept Radiol, Seattle, WA 98195 USA. [Dager, Stephen R.] Univ Washington, Dept Bioengn, Seattle, WA 98195 USA. [Dager, Stephen R.; Estes, Annette M.] Univ Washington, Autism Ctr, Seattle, WA 98195 USA. [Goldowitz, Dan] Univ British Columbia, Dept Med Genet, Ctr Mol Med & Therapeut, Vancouver, BC, Canada. [Heck, Detlef H.] Univ Tennessee, Dept Anat & Neurobiol, Hlth Sci Ctr, Memphis, TN USA. [King, Bryan H.; Webb, Sara J.] Univ Washington, Dept Psychiat & Behav Sci, Seattle Childrens Autism Ctr, Seattle, WA 98195 USA. [Martin, Loren A.] Azusa Pacific Univ, Dept Psychol, Azusa, CA USA. [Mosconi, Matthew W.; Sweeney, John A.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA. [Mosconi, Matthew W.; Sweeney, John A.] Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA. [Persico, Antonio M.] Univ Campus Biomed, Child Neuropsychiat Unit, Lab Mol Psychiat & Neurogenet, Rome, Italy. [Persico, Antonio M.] IRCCS Fdn Santa Lucia, Dept Expt Neurosci, Rome, Italy. [Welsh, John P.] Univ Washington, Dept Pediat, Ctr Integrat Brain Res, Seattle Childrens Res Inst, Seattle, WA 98195 USA. RP Fatemi, SH (reprint author), Univ Minnesota, Sch Med, 420 Delaware St SE,MMC 392, Minneapolis, MN 55455 USA. EM fatem002@umn.edu FU Alfred and Ingrid Lenz Harrison Autism Initiative; Autism Speaks Foundation; Jane Botsford Johnson Foundation; National Alliance for Research on Schizophrenia and Depression; National Institute of Neurological Disorders and Stroke [R21HD065269]; Peter Emch Foundation; Nancy Lurie Marks Family Foundation; NINDS [NS38975-05]; NAAR/Autism Speaks; Autism Speaks [4853]; NIH/NINDS [R01 NS063009]; Hussman Foundation; Department of Defense [AS073224P2]; Autism Research Institute; Autism Collaboration (autism.org); NYS Office for People with Developmental Disabilities; Autism Centers of Excellence [NICHD P50-HD055782]; NICHD [HD35465 NICHD, RO1-HD055741]; ACE Network (NICHD) [HD05571]; American Recovery and Reinvestment Act [NICHD R01-HD065283]; National Institute for Neurological Disorders and Stroke [NINDS R01-NS31224-18, R01 NS31224-18]; Simons Foundation; NIH [RO1NS060887, R01NS063009]; Eunice Kennedy Shriver National Institute of Child Health & Human Development [P50 HD055782]; Autism Center of Excellence from the Eunice Kennedy Shriver NICHD [P50HD055751]; NIMH [1K23MH092696]; Janssen Foundation; Italian Ministry of University, Research and Technology [2006058195, 2008BACT54]; Italian Ministry of Health [RFPS-2007-5-640174]; Autism Research Institute (San Diego, CA); Autism Speaks (Princeton, NJ); Fondazione Gaetano e Mafalda Luce (Milan, Italy); Cure Autism now; Eunice Kennedy Shriver National Institute of Child Health and Human Development [5R01HD052074-05, 3R01HD05207403-S1] FX (1) Dr. S. Hossein Fatemi appreciates the excellent technical assistance by Rachel Elizabeth Kneeland in editing of this consensus paper, and the critical review of the manuscript by Mr. Timothy D. Folsom. Research support for Dr. Fatemi's work is from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (5R01HD052074-05 and 3R01HD05207403-S1 supplemental grant), as well as the Alfred and Ingrid Lenz Harrison Autism Initiative; (2) Research support for work by Drs. Kimberly A. Aldinger and Kathleen J. Millen is from the Autism Speaks Foundation; (3) Research support for work by Dr. Paul Ashwood is from Autism Speaks Foundation, the Jane Botsford Johnson Foundation, National Alliance for Research on Schizophrenia and Depression, and National Institute of Neurological Disorders and Stroke R21HD065269, and the Peter Emch Foundation is gratefully acknowledged; (4) Research support for work by Drs. Margaret L. Bauman and Thomas L. Kemper is from the Nancy Lurie Marks Family Foundation, by NINDS (NS38975-05) and by NAAR/Autism Speaks. We would also like to acknowledge and thank the many families whose generous donation of postmortem brain tissue has made this research possible; (5) Research support for work by Drs. Charles D. Blaha, Price E. Dickson, Dan Goldowitz, Loren A. Martin, and Guy Mittleman is from Cure Autism Now, Autism Speaks, and R01 NS063009 from NIH/NINDS; (6) Research support for work by Dr. Gene Blatt is from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (5R01HD039459-06) and The Hussman Foundation; (7) Research support for work by Drs. Abha Chauhan and Ved Chauhan is from the Department of Defense Autism Spectrum Disorders Research Program AS073224P2, the Autism Research Institute, the Autism Collaboration (autism.org), and the NYS Office for People with Developmental Disabilities; (8) Drs. Stephen R. Dager, Annette M. Estes, and John P. Welsh would like to thank Elizabeth Kelly for assistance in preparing their manuscript. Research support for their work is from Autism Centers of Excellence (NICHD P50-HD055782), Collaborative Programs of Excellence in Autism (NICHD #HD35465 NICHD, RO1-HD055741), ACE Network (NICHD RO1 supplement HD05571), American Recovery and Reinvestment Act (NICHD R01-HD065283), and National Institute for Neurological Disorders and Stroke (NINDS R01-NS31224-18). Support from Autism Speaks and the Simons Foundation is also gratefully acknowledged; (9) Research support for Dr. Detlef H. Heck is from NIH grants RO1NS060887 and R01NS063009. The content of this publication is solely the responsibility of the author and does not necessarily represent the official views of the NIH; (10) Research support for Drs. Bryan H. King, Sara J. Webb, and John P. Welsh is from the Eunice Kennedy Shriver National Institute of Child Health & Human Development (P50 HD055782; King/Webb) and the National Institute for Neurological Disorders and Stroke (R01 NS31224-18; Welsh). We want to thank the families of and individuals with autism who have participated in research; (11) Research support for work by Drs. Matthew W. Mosconi and John A. Sweeney is from the Autism Center of Excellence Award Number P50HD055751 from the Eunice Kennedy Shriver NICHD, NIMH Grant 1K23MH092696, and Autism Speaks Grant 4853. Dr. John Sweeney consults with Pfizer and Takeda and has received a grant from the Janssen Foundation.The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding institutes; (12) Research support for work by Dr. Antonio M. Persico is from the Italian Ministry of University, Research and Technology (PRIN 2006058195 and 2008BACT54), the Italian Ministry of Health (RFPS-2007-5-640174), Autism Speaks (Princeton, NJ), the Autism Research Institute (San Diego, CA), and the Fondazione Gaetano e Mafalda Luce (Milan, Italy). 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Kelso, J. A. Scott TI Functional dissociation of brain rhythms in social coordination SO CLINICAL NEUROPHYSIOLOGY LA English DT Article DE Upper and lower mu; Social-coordination; Imitation; Hemisphere asymmetry; De-/synchronization; Synchronization index (SI) ID COGNITIVE MOTOR CONTROL; MU-RHYTHMS; DESYNCHRONIZATION ERD; NEURAL MECHANISMS; EEG ALPHA; IMITATION; DYNAMICS; OSCILLATIONS; FREQUENCY; MOVEMENT AB Objectives: The goal of this research was to investigate sub-band modulations in the mu domain in dyads performing different social coordination tasks. Methods: Dyads of subjects performed rhythmic finger movement under three different task conditions: intrinsic - maintain self-produced movement while ignoring their partner's movement; in-phase - synchronize with partner; and anti-phase - maintain syncopation with partner. Movement profiles of the dyads were used to estimate a synchronization index (SI) to verify differences in coordination according to each task. EEG was recorded during task performance and at baseline (partner's actions hidden from view). Log power ratios of mu band activity (active against baseline) were used to assess the relative levels of synchronization/de-synchronization in both the upper and lower mu bands. Results: Results confirm a functional dissociation of lower (8-10 Hz) and upper (10-12 Hz) mu bands in social coordination tasks. Lower mu band activity was independent of specific modulations across tasks and hemispheric preferences. Upper mu band activity was sensitive to coordination tasks and exhibited marked differences between the hemispheres. Accentuated de-synchronization of right relative to left hemisphere in the anti-phase task appeared related to the greater demand of perceptual-motor discrimination. Left hemisphere de-synchronization in both in-phase and anti-phase coordination was interpreted in terms of successful production of imitation. Right hemisphere synchronization in the intrinsic task was interpreted as inhibition of an imitative response tendency. Conclusions: Functional dissociation of lower and upper mu band and hemispheric preferences exists in real-time social coordination. Significance: This research attests to the merit of analyzing sub-band activity in the alpha-mu domain in order to identify neural correlates of social coordination. Such 'neuromarkers' may be relevant for brain disorders such as apraxia and autism. (C) 2012 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved. C1 [Naeem, Muhammad; Prasad, Girijesh; Watson, David R.; Kelso, J. A. Scott] Univ Ulster, Intelligent Syst Res Ctr, Sch Comp & Intelligent Syst, Londonderry BT48 7JL, North Ireland. [Kelso, J. A. Scott] Florida Atlantic Univ, Ctr Complex Syst & Brain Sci, Human Brain & Behav Lab, Boca Raton, FL 33431 USA. 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Neurophysiol. PD SEP PY 2012 VL 123 IS 9 BP 1789 EP 1797 DI 10.1016/j.clinph.2012.02.065 PG 9 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 984IR UT WOS:000307183800020 PM 22425484 ER PT J AU Mathewson, KJ Jetha, MK Drmic, IE Bryson, SE Goldberg, JO Schmidt, LA AF Mathewson, Karen J. Jetha, Michelle K. Drmic, Irene E. Bryson, Susan E. Goldberg, Joel O. Schmidt, Louis A. TI Regional EEG alpha power, coherence, and behavioral symptomatology in autism spectrum disorder SO CLINICAL NEUROPHYSIOLOGY LA English DT Article DE Autism spectrum disorder; Perceptual processing; EEG Alpha frequency; EEG coherence ID MILD COGNITIVE IMPAIRMENT; HIGH-FUNCTIONING AUTISM; ALZHEIMERS-DISEASE; INHIBITORY CONTROL; FRONTAL-CORTEX; BRAIN ACTIVITY; DEFAULT MODE; CORTICAL CONNECTIVITY; SPATIAL ATTENTION; INFANTILE-AUTISM AB Objective: Although distinct patterns of resting brain electrical activity (EEG) and functional connectivity are believed to distinguish individuals with autism spectrum disorders (ASD) from their unimpaired peers, researchers have only recently begun to link patterns of brain activity and connectivity to behavior in ASD. Method: We examined regional eyes-closed and eyes-open EEG alpha power and coherence at rest in relation to self-reported perceptual and social behavior in 15 adults diagnosed with ASD and a matched comparison group of 16 unimpaired adults. Results: The groups did not differ on eyes-closed EEG alpha power or coherence, but adults with ASD showed less alpha suppression for the eyes-open condition than did controls. In the ASD group, preferential attention to detail (perceptual domain) was associated with lower levels of alpha activity and reduced coherence in posterior regions. No relations between social interaction difficulties (social domain) and alpha measures were found for either group alone. Conclusions: These relations suggest that the processing of perceptual details may be carried out by relatively less synchronized neuronal units in adults with ASD, and may be relatively automatic. Significance: Findings are discussed in relation to recent models of narrow minicolumnar brain structure and reduced functional neural connectivity in ASD. (C) 2012 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved. C1 [Mathewson, Karen J.; Jetha, Michelle K.; Schmidt, Louis A.] McMaster Univ, Dept Psychol Neurosci & Behav, Hamilton, ON L8S 4K1, Canada. [Goldberg, Joel O.] York Univ, Dept Psychol, Toronto, ON M3J 2R7, Canada. [Bryson, Susan E.] Dalhousie Univ, Halifax, NS, Canada. [Bryson, Susan E.] IWK Hlth Ctr, Dept Pediat & Psychol, Halifax, NS, Canada. [Drmic, Irene E.; Goldberg, Joel O.] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON L8S 4K1, Canada. RP Mathewson, KJ (reprint author), McMaster Univ, Dept Psychol Neurosci & Behav, Hamilton, ON L8S 4K1, Canada. EM mathewkj@mcmaster.ca; schmidtl@mcmaster.ca FU Lawson Foundation; Natural Sciences and Engineering Research Council of Canada (NSERC); National Alliance for Autism Research (NAAR); Community Social and Vocational Rehabilitation (CVSR) Foundation; Social Sciences and Humanities Research Council of Canada (SSHRC); NSERC FX The second author is now at the Department of Psychology, Brock University, and the third author is now a post-doctoral fellow at Offord Centre for Child Studies in Hamilton, Ontario. This research was supported by a Lawson Foundation Post-doctoral Fellowship awarded to the first author under the direction of LAS, a Natural Sciences and Engineering Research Council of Canada (NSERC) Pre-doctoral Fellowship awarded to the second author under the direction of LAS, a National Alliance for Autism Research (NAAR) Pre-doctoral Fellowship awarded to the third author under the direction of SEB, a Community Social and Vocational Rehabilitation (CVSR) Foundation grant awarded to JOG, and a Social Sciences and Humanities Research Council of Canada (SSHRC) and NSERC operating grants awarded to LAS. The authors would like to thank Sue McKee and Stephanie Tak for their help with data collection, Drs. Ingmar Gutberlet and Jose Muradas at BVA for their kind and invaluable assistance with technical questions, and the clients and staff at the independent living program. 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Neurophysiol. PD SEP PY 2012 VL 123 IS 9 BP 1798 EP 1809 DI 10.1016/j.clinph.2012.02.061 PG 12 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 984IR UT WOS:000307183800021 PM 22405935 ER PT J AU Juhasz, C Chugani, DC Barger, GR Kupsky, WJ Chakraborty, PK Muzik, O Mittal, S AF Juhasz, Csaba Chugani, Diane C. Barger, Geoffrey R. Kupsky, William J. Chakraborty, Pulak K. Muzik, Otto Mittal, Sandeep TI Quantitative PET Imaging of Tryptophan Accumulation in Gliomas and Remote Cortex: Correlation With Tumor Proliferative Activity SO CLINICAL NUCLEAR MEDICINE LA English DT Article DE tryptophan; glioma; Ki-67 labeling index; kynurenine; PET; serotonin ID BRAIN-SEROTONIN SYNTHESIS; POSITRON-EMISSION-TOMOGRAPHY; INDOLEAMINE 2,3-DIOXYGENASE; IN-VIVO; DEPRESSION; METABOLISM; KYNURENINE; GRADE; DEGRADATION; TRANSPORT AB Purpose: PET studies with alpha[C-11]methyl-L-tryptophan (AMT) have shown decreased serotonin synthesis based on a decrease of the unidirectional uptake rate (K-complex) in neuropsychiatric conditions such as autism and depression. Increased AMT K-complex in tumors can indicate increased tryptophan metabolism via the immunosuppressive kynurenine pathway. Moreover, apparent AMT volume of distribution (VD') reflects net tryptophan transport from blood to tissue. We evaluated if kinetic parameters (K-complex, VD') of AMT, measured by PET, can predict the proliferative activity of glioma, and if these AMT parameters are altered in the remote cortex. Methods: We evaluated dynamic AMT PET images of 30 adult patients with grade 2 to 4 gliomas according to the World Health Organization's classification to determine tumoral AMT VD' and K-complex values, which were correlated with tumor proliferative activity as assessed by the Ki-67 labeling index in resected tumor specimens. We also compared cortical VD' and K-complex values between patients with glioma and healthy controls. Results: Both VD' and K-complex values were significantly higher in gliomas than in the contralateral cortex (VD', P < 0.001; K-complex, P < 0.001). Tumoral VD' values and tumor/cortex VD' ratios, but not the K-complex, showed strong positive correlations with the proliferative activity of glioma (P <= 0.001). The contralateral frontal cortex showed decreased AMT VD' and K-complex in patients with glioma compared with those in controls (P <= 0.01). Conclusions: Increased net amino acid transport into tumor tissue, quantified by PET, can serve as an imaging marker of the proliferative activity of glioma. The data also suggest a glioma-induced down-regulation of cortical serotonin synthesis, likely mediated by shunting of tryptophan from serotonin synthesis to kynurenine metabolism. C1 [Juhasz, Csaba] Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USA. [Juhasz, Csaba; Chugani, Diane C.; Muzik, Otto] Wayne State Univ, Dept Pediat, Detroit, MI 48201 USA. [Juhasz, Csaba; Chugani, Diane C.; Chakraborty, Pulak K.; Muzik, Otto] Childrens Hosp Michigan, PET Ctr, Detroit, MI 48201 USA. [Juhasz, Csaba; Chugani, Diane C.; Chakraborty, Pulak K.; Muzik, Otto] Childrens Hosp Michigan, Translat Imaging Lab, Detroit, MI 48201 USA. [Juhasz, Csaba; Barger, Geoffrey R.; Kupsky, William J.; Mittal, Sandeep] Wayne State Univ, Karmanos Canc Inst, Detroit, MI 48201 USA. [Kupsky, William J.] Wayne State Univ, Dept Pathol, Detroit, MI 48201 USA. [Chakraborty, Pulak K.; Muzik, Otto] Wayne State Univ, Dept Radiol, Detroit, MI 48201 USA. [Mittal, Sandeep] Wayne State Univ, Dept Neurosurg, Detroit, MI 48201 USA. RP Juhasz, C (reprint author), Wayne State Univ, Sch Med, Dept Neurol, 3901 Beaubien St, Detroit, MI 48201 USA. EM juhasz@pet.wayne.edu FU National Cancer Institute [CA123451] FX The study was supported by a grant (CA123451 to C.J.) from the National Cancer Institute. The authors declare that they have no conflict of interest. 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Nucl. Med. PD SEP PY 2012 VL 37 IS 9 BP 838 EP 842 DI 10.1097/RLU.0b013e318251e458 PG 5 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA 992VL UT WOS:000307808000011 PM 22889771 ER PT J AU Koller, HP AF Koller, Harold P. TI Visual processing and learning disorders SO CURRENT OPINION IN OPHTHALMOLOGY LA English DT Review DE attention deficit/hyperactive disorder; autism spectrum disorders/pervasive developmental disorder; dyslexia; nonverbal learning disorder; visual and auditory processing/learning disorders ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT; CHILDREN; DISABILITIES; DYSLEXIA; INTERVENTIONS AB Purpose of review Many children are seen by ophthalmologists because of scholastic difficulties in school initially attributed to eyesight when, in fact, the problem often is a result of a disorder of the brain processing vision. A number of neuropsychological conditions predisposing and affecting children with learning disorders will be described. Visual processing is the main brain function allowing normal perception of what is being viewed. Ophthalmologists as well as patients must realize that with normal 20/20 eyesight interpretation of what is seen may be dysfunctional because of faulty brain processing of that which is seen by normal eyes. Abnormal Visual Processing as well as auditory processing disorders eventually lead directly to learning disorders in children and young adults. Recent findings New Clinical Practice Guidelines for the diagnosis, evaluation and treatment of children with attention deficit disorder (ADD)/attention deficit hyperactive disorder (ADHD) have been established by the American Academy of Pediatrics. An overgrowth of neurons in the prefrontal cortex of children with autism has recently been discovered. Six out of 1000 children have been reported as having Pervasive Developmental Disorder (PDD), which is another name for Autism Spectrum Disorder (ASD). A number of alternative treatments for ASD have recently been published. The families of autistic children have increased emotional and financial burdens, often affecting the workplace. Summary Recent neuropsychology discoveries have helped in the prevention, evaluation and treatment of children with visual processing and learning disorders. Quality-of-life and educational efficiency therefore can be improved. C1 Wills Eye Inst, Dept Pediat Ophthalmol Strabismus & Genet, Philadelphia, PA 19107 USA. RP Koller, HP (reprint author), Wills Eye Inst, Dept Pediat Ophthalmol Strabismus & Genet, 840 Walnut St, Philadelphia, PA 19107 USA. 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PD SEP PY 2012 VL 23 IS 5 BP 377 EP 383 DI 10.1097/ICU.0b013e32835720e2 PG 7 WC Ophthalmology SC Ophthalmology GA 993PT UT WOS:000307872700006 PM 22847031 ER PT J AU Vedi, K Bernard, S AF Vedi, Kristan Bernard, Sarah TI The mental health needs of children and adolescents with learning disabilities SO CURRENT OPINION IN PSYCHIATRY LA English DT Review DE CAMHS; children; learning disability; mental health; young people ID AUTISM SPECTRUM DISORDERS; EYE-MOVEMENT SLEEP; INTELLECTUAL DISABILITY; POPULATION PREVALENCE; CHALLENGING BEHAVIOR; EMOTIONAL-PROBLEMS; PSYCHOPATHOLOGY; SERVICES; ADULTS; EPIDEMIOLOGY AB Purpose of review To provide an update on the mental health needs of children and adolescents with learning disabilities, by examining salient studies published predominantly in the last 12-18 months. Recent findings There have been further articles published supporting the findings of earlier landmark studies demonstrating an increased prevalence of mental health disorders in young people with learning disabilities. These articles suggest higher rates of comorbidity than were previously recognized. There are few published studies pertaining to the effectiveness of psychological and pharmacological treatments, although there is a recognition that the latter are more routinely and perhaps inappropriately administered. Antipsychotics are the most commonly prescribed group of medications and, despite a lack of evidence, continue to be prescribed more to address challenging behaviours rather than in the treatment of an identified psychiatric disorder. 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Using an Illumina HumanCNV370-Quad BeadChip, we identified two Han Chinese individuals with autism and large duplications (similar to 1.6 Mb and similar to 2.4 Mb) disrupting the same CNTN4 gene. CNTN4 encodes a protein that functions as a cell-adhesion molecule and may play an essential role in the formation of axon connections in the developing nervous system. The disruption of this gene has been reported to be the cause of the 3p deletion syndrome and also a possible susceptibility factor for autism spectrum disorders (ASDs). Our results suggest that rare copy number variations (CNVs) in CNTN4 may also influence autism susceptibility in Asian populations. Interestingly, a comparison of the clinical phenotypes between the two subjects revealed that the subject with the 2.4 Mb CNV (involving several other genes) presented with a more severe phenotype than the subject with the 1.6 Mb CNV (disrupting only CNTN4 and CNTN6). This suggests that other genes in the nearby region may contribute to the pathogenesis. (C) 2012 Elsevier B.V. All rights reserved. C1 [Guo, Hui; Peng, Yu; Xiang, Xinying; Xiong, Zhimin; Zhang, Lusi; Xu, Xiaojuan; Liu, Yalan; Lu, Lina; Long, Zhigao; Pan, Qian; Hu, Zhengmao; Zhao, Jingping; Xia, Kun] Cent S Univ, State Key Lab Med Genet, Changsha, Hunan, Peoples R China. [Guo, Hui; Xiang, Xinying; Xiong, Zhimin; Hu, Zhengmao; Xia, Kun] Cent S Univ, Sch Biol Sci & Technol, Changsha, Hunan, Peoples R China. [Xun, Guanglei; He, Yiqun; Zhao, Jingping] Cent S Univ, Dept Mental Hlth Inst, Xiangya Hosp 2, Changsha, Hunan, Peoples R China. [Xun, Guanglei] Shandong Mental Hlth Ctr, Jinan, Peoples R China. [He, Yiqun] Xinxiang Med Univ, Affiliated Hosp 2, Xinxiang, Peoples R China. RP Zhao, JP (reprint author), Cent S Univ, Mental Hlth Inst, Xiangya Hosp 2, 139 Renmin Middle Rd, Changsha, Hunan, Peoples R China. EM zhaojingpinghunan@yahoo.com.cn; xiakun@sklmg.edu.cn FU National Basic Research Program of China [2012CB517902, 2010CB529601]; Ministry of Education of China [2011ybjz010] FX We thank the autism patients and their family members who participated in this study. This work was supported by the National Basic Research Program of China (2012CB517902 and 2010CB529601) and a Scholarship Award for Excellent Doctoral Student Granted by the Ministry of Education of China (2011ybjz010). 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We describe a case of a 3-year-old boy presenting with developmental delay, autistic features and growth and speech delay. Array-CGH analysis detected a microduplication on the X chromosome (Xp11.2p11.3), spanning 335.4 kb and including 3 known genes (ZNF81, ZNF182 and SPACA5). Genome-wide association studies show that approximately 30% of mutations causing XLMR are located in Xp11.2p11.3, where few pathogenic genes have been identified to date (such as ZNF41, PQB1 and ZNF81). ZNF81 codifies a zinc finger protein and mutations (non-sense mutations, deletions and structural rearrangements) involving this gene have already been described in association with mental retardation. Larger duplications in the same region have also been observed in association with mental retardation, and, in one case, the over-expression of ZNF81 has also been verified by mRNA quantification. No duplications of the single gene have been identified. To our knowledge, the microduplication found in our patient is the smallest ever described in Xp11.2p11.3. This suggests that the over-expression of ZNF81 could have pathological effects. (C) 2012 Elsevier B.V. All rights reserved. C1 [Torres, Barbara; Novelli, Antonio] CSS Mendel Inst, I-00198 Rome, Italy. [Alesi, Viola; Bertoli, Marta; Barrano, Giuseppe] S Pietro Fatebenefratelli Hosp, UOSD Med Genet, Rome, Italy. [Pusceddu, Silvia; Pastorino, Myriam; Perria, Chiara; Serra, Gigliola] Univ AOU Sassari, Ist NeuroPsichiatria Infantile, Sassari, Italy. [Nardone, Anna Maria] Fdn Policlin Tor Vergata, UOC, Med Genet Lab, Rome, Italy. RP Novelli, A (reprint author), CSS Mendel Inst, Viale Regina Margherita 261, I-00198 Rome, Italy. 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Liepelt, Roman Hamilton, Antonia F. de C. Parkinson, Jim Ramsey, Richard Stadler, Waltraud Prinz, Wolfgang TI Robotic movement preferentially engages the action observation network SO HUMAN BRAIN MAPPING LA English DT Article DE action observation network; functional MRI; parietal; premotor; robots; dance ID MIRROR-NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; INFERIOR FRONTAL GYRUS; SOCIAL COGNITION; MOTOR; FMRI; MOTION; INTERFERENCE; PERCEPTION; SIMULATION AB As humans, we gather a wide range of information about other people from watching them move. A network of parietal, premotor, and occipitotemporal regions within the human brain, termed the action observation network (AON), has been implicated in understanding others' actions by means of an automatic matching process that links observed and performed actions. Current views of the AON assume a matching process biased towards familiar actions; specifically, those performed by conspecifics and present in the observer's motor repertoire. In this study, we test how this network responds to form and motion cues when observing natural human motion compared to rigid robotic-like motion across two independent functional neuroimaging experiments. In Experiment 1, we report the surprising finding that premotor, parietal, occipitotemporal regions respond more robustly to rigid, robot-like motion than natural human motion. In Experiment 2, we replicate and extend this finding by demonstrating that the same pattern of results emerges whether the agent is a human or a robot, which suggests the preferential response to robot-like motion is independent of the agent's form. These data challenge previous ideas about AON function by demonstrating that the core nodes of this network can be flexibly engaged by novel, unfamiliar actions performed by both human and non-human agents. As such, these findings suggest that the AON is sensitive to a broader range of action features beyond those that are simply familiar. Hum Brain Mapp 33:22382254, 2012. (c) 2011 Wiley Periodicals, Inc. C1 [Cross, Emily S.] Radboud Univ Nijmegen, Dept Social & Cultural Psychol, Inst Behav Sci, Donders Inst Brain Cognit & Behav, NL-6500 HE Nijmegen, Netherlands. [Cross, Emily S.; Liepelt, Roman; Parkinson, Jim; Stadler, Waltraud; Prinz, Wolfgang] Max Planck Inst Human Cognit & Brain Sci, Dept Psychol, Leipzig, Germany. [Liepelt, Roman] Univ Munster, Dept Psychol, Munster, Germany. [Hamilton, Antonia F. de C.; Ramsey, Richard] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England. RP Cross, ES (reprint author), Radboud Univ Nijmegen, Dept Social & Cultural Psychol, Inst Behav Sci, Donders Inst Brain Cognit & Behav, POB 9014, NL-6500 HE Nijmegen, Netherlands. EM e.cross@psych.ru.nl RI Cross, Emily/B-4565-2009; Hamilton, Antonia/B-3612-2008 OI Cross, Emily/0000-0002-1671-5698; Hamilton, Antonia/0000-0001-8000-0219 FU Alexander von Humboldt Foundation FX Contract grant sponsor: Alexander von Humboldt Foundation. 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Brain Mapp. PD SEP PY 2012 VL 33 IS 9 BP 2238 EP 2254 DI 10.1002/hbm.21361 PG 17 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA 989XB UT WOS:000307593400018 PM 21898675 ER PT J AU Liu, J Koscielska, KA Cao, ZY Hulsizer, S Grace, N Mitchell, G Nacey, C Githinji, J McGee, J Garcia-Arocena, D Hagerman, RJ Nolta, J Pessah, IN Hagerman, PJ AF Liu, Jing Koscielska, Katarzyna A. Cao, Zhengyu Hulsizer, Susan Grace, Natalie Mitchell, Gaela Nacey, Catherine Githinji, Jackline McGee, Jeannine Garcia-Arocena, Dolores Hagerman, Randi J. Nolta, Jan Pessah, Isaac N. Hagerman, Paul J. TI Signaling defects in iPSC-derived fragile X premutation neurons SO HUMAN MOLECULAR GENETICS LA English DT Article ID PLURIPOTENT STEM-CELLS; TREMOR/ATAXIA SYNDROME; RETT-SYNDROME; CALCIUM OSCILLATIONS; REPEAT EXPANSION; MOUSE MODEL; FMR1; CHROMOSOME; INACTIVATION; FIBROBLASTS AB Fragile X-associated tremor/ataxia syndrome (FXTAS) is a leading monogenic neurodegenerative disorder affecting premutation carriers of the fragile X (FMR1) gene. To investigate the underlying cellular neuropathology, we produced induced pluripotent stem cell-derived neurons from isogenic subclones of primary fibroblasts of a female premutation carrier, with each subclone bearing exclusively either the normal or the expanded (premutation) form of the FMR1 gene as the active allele. We show that neurons harboring the stably-active, expanded allele (EX-Xa) have reduced postsynaptic density protein 95 protein expression, reduced synaptic puncta density and reduced neurite length. Importantly, such neurons are also functionally abnormal, with calcium transients of higher amplitude and increased frequency than for neurons harboring the normal-active allele. Moreover, a sustained calcium elevation was found in the EX-Xa neurons after glutamate application. By excluding the individual genetic background variation, we have demonstrated neuronal phenotypes directly linked to the FMR1 premutation. Our approach represents a unique isogenic, X-chromosomal epigenetic model to aid the development of targeted therapeutics for FXTAS, and more broadly as a model for the study of common neurodevelopmental (e.g. autism) and neurodegenerative (e.g. Parkinsonism, dementias) disorders. C1 [Koscielska, Katarzyna A.; Hulsizer, Susan; Garcia-Arocena, Dolores; Hagerman, Paul J.] Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA. [Liu, Jing; Grace, Natalie; Mitchell, Gaela; Nacey, Catherine; Githinji, Jackline; McGee, Jeannine; Nolta, Jan] Univ Calif Davis, Stem Cell Program, Sacramento, CA 95817 USA. [Liu, Jing; Grace, Natalie; Mitchell, Gaela; Nacey, Catherine; Githinji, Jackline; McGee, Jeannine; Nolta, Jan] Univ Calif Davis, Inst Regenerat Cures, Sacramento, CA 95817 USA. [Hagerman, Randi J.] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USA. [Hagerman, Randi J.; Pessah, Isaac N.; Hagerman, Paul J.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA. [Cao, Zhengyu; Hulsizer, Susan; Pessah, Isaac N.] Univ Calif Davis, Sch Vet Med, Dept Mol Biosci, Davis, CA 95616 USA. RP Hagerman, PJ (reprint author), Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, 1 Shields Ave, Davis, CA 95616 USA. EM pjhagerman@ucdavis.edu RI cao, zhengyu/G-2527-2012 FU National Institutes of Health Challenge (ARRA) [RC1 AG036022]; National Institutes of Health Interdisciplinary Research Consortium (IRC) [UL1 DE019583, RL1 AG032119, RL1 AG032115]; Shriners Hospital; NIH [R01 GM099688]; J.B. Johnson Foundation FX This project is funded by a National Institutes of Health Challenge (ARRA) grant [RC1 AG036022 to P.J.H.] and by a National Institutes of Health Interdisciplinary Research Consortium (IRC) grant [UL1 DE019583 to P.J.H., RL1 AG032119 to P.J.H. and I.N.P., RL1 AG032115 to R.J.H]. J.L. is supported by the Shriners Hospital Fellowship and is the 2011 Wing Kai Fat Memorial Fund scholar; N.G. is a scholar of the California Institute for Regenerative Medicine (CIRM) Bridges Program at CSUS and UC Davis [CIRM TB1-01184]; J.N. is the recipient of an NIH Director's Transformative Grant [R01 GM099688]. This research is also supported by an unrestricted research grant from J.B. Johnson Foundation (I.N.P.), and by facilities from the UC Davis MIND Institute. 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J. Biochem. Cell Biol. PD SEP PY 2012 VL 44 IS 9 BP 1501 EP 1504 DI 10.1016/j.biocel.2012.06.002 PG 4 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA 983BY UT WOS:000307092400015 PM 22705982 ER PT J AU Dichter, GS Sikich, L Song, A Voyvodic, J Bodfish, JW AF Dichter, Gabriel S. Sikich, Linmarie Song, Allen Voyvodic, James Bodfish, James W. TI Functional Neuroimaging of Treatment Effects in Psychiatry: Methodological Challenges and Recommendations SO INTERNATIONAL JOURNAL OF NEUROSCIENCE LA English DT Article DE clinical trials; fMRI; functional magnetic resonance imaging; neurodevelopmental disorders; psychiatry ID NORMAL BRAIN-DEVELOPMENT; TEST-RETEST RELIABILITY; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; COMMON STEREOTACTIC SPACE; WORKING-MEMORY; CLINICAL-TRIALS; BLOOD-FLOW; NIH MRI; COGNITIVE NEUROSCIENCE; PLACEBO TREATMENTS AB Functional magnetic resonance imaging (fMRI) has helped to elucidate the neurobiological bases of psychiatric and neurodevelopmental disorders by localizing etiologically-relevant aberrations in brain function. Functional MRI also has shown great promise to help understand potential mechanisms of action of effective treatments for a range of psychiatric and neurodevelopmental disorders, including mood and anxiety disorders, schizophrenia, and autism. However, the use of fMRI to probe intervention effects in psychiatry is associated with unique methodological considerations, including the psychometric properties of repeated fMRI scans, how to assess potential relations between the effects of an intervention on symptoms and on specific brain activation patterns, and how to best make causal inferences about intervention effects on brain function. Additionally, the study of treatment effects in neurodevelopmental disorders presents additional unique challenges related to brain maturation, analysis methods, and the potential for motion artifacts. We review these methodological considerations and provide recommendations for best practices for each of these topics. C1 [Dichter, Gabriel S.; Sikich, Linmarie; Bodfish, James W.] Univ N Carolina, Chapel Hill Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA. [Dichter, Gabriel S.; Sikich, Linmarie; Bodfish, James W.] Univ N Carolina, Dept Psychiat, Chapel Hill Sch Med, Chapel Hill, NC 27599 USA. [Dichter, Gabriel S.; Song, Allen; Voyvodic, James] Duke Univ, Med Ctr, Duke UNC Brain Imaging & Anal Ctr, Durham, NC USA. RP Dichter, GS (reprint author), Univ N Carolina, Dept Psychiat, Sch Med, CB 7255,101 Manning Dr, Chapel Hill, NC 27599 USA. EM dichter@med.unc.edu FU [K23 MH081285] FX Preparation of this manuscript was supported by K23 MH081285 to G. Dichter. 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J. Neurosci. PD SEP PY 2012 VL 122 IS 9 BP 483 EP 493 DI 10.3109/00207454.2012.678446 PG 11 WC Neurosciences SC Neurosciences & Neurology GA 986QJ UT WOS:000307358400001 PM 22471393 ER PT J AU Sullivan, A Winograd, G Verkuilen, J Fish, MC AF Sullivan, Alison Winograd, Greta Verkuilen, Jay Fish, Marian C. TI Children on the Autism Spectrum: Grandmother Involvement and Family Functioning SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE autism spectrum disorders; dyadic analysis; family functioning; grandparents; missing data; multiple imputation procedures ID CIRCUMPLEX MODEL; GRANDPARENTS; SUPPORT; DISABILITIES; DISORDER; PARENTS; SYSTEMS; NEEDS AB Background This study investigated associations between the presence of a child with autism or Aspergers disorder in the family, family functioning and grandmother experiences with the goal of better understanding grandparent involvement in the lives of grandchildren on the autism spectrum and their families. Methods Mothers and grandmothers of children who were either typically developing or on the autism spectrum completed parallel forms of a grandparent involvement measure. Mothers reported on the functioning of the immediate family. Data were analysed via multilevel modelling with mothergrandmother dyads as the unit of observation. Results Autism spectrum disorders in children were associated with more flexible family functioning, lower levels of family satisfaction, greater grandmother difficulties and more grandmother information needs. Conclusions Participation of grandparents in diagnostic and treatment meetings and increased communication among family members may facilitate grandparent support and involvement in families with a child on the autism spectrum. C1 [Winograd, Greta] SUNY Coll New Platz, Dept Psychol, New Paltz, NY 12561 USA. [Sullivan, Alison; Verkuilen, Jay] CUNY Grad Sch & Univ Ctr, New York, NY USA. [Fish, Marian C.] CUNY, Queens Coll, Flushing, NY USA. RP Winograd, G (reprint author), SUNY Coll New Platz, Dept Psychol, 600 Hawk Dr, New Paltz, NY 12561 USA. 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SO JOURNAL OF EMOTIONAL AND BEHAVIORAL DISORDERS LA English DT Article DE academic achievement; failure; ADHD; autism disorders; disabilities; learning disorders ID ATTENTION-DEFICIT/HYPERACTIVITY-DISORDER; DEFICIT HYPERACTIVITY DISORDER; PSYCHOMETRIC PROPERTIES; SCHOOL PERFORMANCE; CHILDREN; ACHIEVEMENT; SYMPTOMS; ADOLESCENTS; IMPACT; DISTURBANCES AB Attention-deficit/hyperactivity disorder (ADHD) has been associated with poor academic performance, but little is known about learning trajectories and risk factors for poor academic outcomes. This study investigates the relationship between ADHD and academic performance in students with ADHD (n = 87), students with subclinical ADHD (n = 23), and matched comparisons (n = 112), accounting for exceptional student education (ESE) status. Academic outcomes included reading and math scores on a state-mandated achievement test, the Florida Comprehensive Assessment Test (FCAT), grade point averages, retention, and graduation. Cross-sectional and longitudinal analyses were conducted, adjusting for sociodemographic characteristics and ESE, to test ADHD status as an independent outcome predictor. Students with ADHD received more special education services (53%) than subclinical (26%) and comparison (10%) students (p < .01). ADHD was associated with poorer academic performance on all outcome measures, but only when ESE status was not accounted for. In the longitudinal analysis students with ADHD and special education needs consistently achieved lower FCAT scores than peers in the comparison group but showed comparable learning gains, or slopes, over time. Students without special education needs and gifted students with ADHD had comparable achievement and learning gains as comparison students of the same ESE status. Results suggest that special education status is a driving factor in underachievement among students with ADHD. 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Emot. Behav. Disord. PD SEP PY 2012 VL 20 IS 3 BP 131 EP 143 DI 10.1177/1063426610388180 PG 13 WC Education, Special; Psychology, Educational; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA 990PO UT WOS:000307643200001 ER PT J AU de Souza, MBR de Oliveira, JRM AF Rodrigues de Souza, Manuela Barbosa Mendes de Oliveira, Joao Ricardo TI Searching for New Genetic Variations in Expression Databases for the GABAergic and Glutamatergic Systems SO JOURNAL OF MOLECULAR NEUROSCIENCE LA English DT Article DE Genetic variations; Neurogenetics; Mood disorders; Bioinformatics; Microarrays; Expressed sequence tag ID BIOINFORMATICS TOOLS; BIPOLAR DISORDER; MAJOR DEPRESSION; MOOD DISORDERS; HUMAN GENOME; MUTATIONS; POLYMORPHISM; ASSOCIATION; AUTISM; GABA AB Changes in gene expression and genetic variations in coding regions have likely functional impact, potentially associated with complex diseases, such as neuropsychiatric conditions. A current need for high throughput analysis of genomic data is leading to the development and improvement of sophisticated bioinformatics approaches, which allows the processing of large amounts of sequence and gene expression data. In this study, we identified new potential genetic variations prioritizing genes related to glutamatergic and GABAergic systems, using different bioinformatics resources. The CLCbio Workbench Combined platform was initially used to build expressed sequence tags and mRNA files retrieved, respectively, from the Goldenpath and National Center for Biotechnology Information databases and latter to perform multiple batches of Smith-Waterman alignments. The PMUT software was used to increase an accurate association between potential variations and pathogenic predictions. The annotation revealed various classes of variations and most of them are deletions ranging from 1 to 7 bp. Bioinformatic pipelines seem to be useful approaches to help screening for genetic variations with potential impact in gene expression. Further analysis will foster this aim to provide celerity at the massive analysis of data currently generated in large scale high throughput experiments. C1 [Mendes de Oliveira, Joao Ricardo] Fed Univ Pernambuco UFPE, Dept Neuropsychiat, BR-50670901 Recife, PE, Brazil. [Rodrigues de Souza, Manuela Barbosa; Mendes de Oliveira, Joao Ricardo] Fed Univ Pernambuco UFPE, Keizo Asami Lab LIKA, BR-50670901 Recife, PE, Brazil. RP de Oliveira, JRM (reprint author), Fed Univ Pernambuco UFPE, Dept Neuropsychiat, BR-50670901 Recife, PE, Brazil. EM manu.brsouza@gmail.com; joao.ricardo@ufpe.br FU LIKA-JIKA; PROPESQ-UFPE; CAPES; CNPq; FACEPE FX We are greatly indebted to Henrique Castelletti and Roberta Rodrigues de Lemos for their technical support. This study received financial support from the following Brazilian funding agencies and academic bureaus: LIKA-JIKA, PROPESQ-UFPE, CAPES, CNPq, and FACEPE. 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Mol. Neurosci. PD SEP PY 2012 VL 48 IS 1 BP 257 EP 264 DI 10.1007/s12031-012-9771-z PG 8 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA 986HZ UT WOS:000307334000028 PM 22528461 ER PT J AU Smith, SEP Elliott, RM Anderson, MP AF Smith, Stephen E. P. Elliott, Robin M. Anderson, Matthew P. TI Maternal Immune Activation Increases Neonatal Mouse Cortex Thickness and Cell Density SO JOURNAL OF NEUROIMMUNE PHARMACOLOGY LA English DT Article ID ADULT SCHIZOPHRENIA; PRENATAL EXPOSURE; AUTISM; BRAIN; INFECTION; PATHOLOGY C1 [Smith, Stephen E. P.; Elliott, Robin M.; Anderson, Matthew P.] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02215 USA. [Smith, Stephen E. P.; Elliott, Robin M.; Anderson, Matthew P.] Beth Israel Deaconess Med Ctr, Ctr Life Sci, Boston, MA 02215 USA. [Smith, Stephen E. P.; Elliott, Robin M.; Anderson, Matthew P.] Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02215 USA. RP Anderson, MP (reprint author), Harvard Univ, Sch Med, Dept Neurol, 330 Brookline Ave,E CLS-717, Boston, MA 02215 USA. EM mpanders@bidmc.harvard.edu FU National Institute of Neurological Disorders and Stroke [R01 NS057444-01A2]; Nancy Lurie Marks Family Foundation; Autism Speaks/NAAR; Beth Israel Deaconess Medical Center FX This work was supported in part by the National Institute of Neurological Disorders and Stroke R01 NS057444-01A2 (M. P. A.), the Nancy Lurie Marks Family Foundation (M. P. A.), Autism Speaks/NAAR (M. P. A.), and Beth Israel Deaconess Medical Center. The authors declare that they have no conflict of interest. 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Neuroimmune Pharm. PD SEP PY 2012 VL 7 IS 3 BP 529 EP 532 DI 10.1007/s11481-012-9372-1 PG 4 WC Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA 989JL UT WOS:000307556000004 PM 22570011 ER PT J AU Holwerda, A van der Klink, JJL Groothoff, JW Brouwer, S AF Holwerda, Anja van der Klink, Jac J. L. Groothoff, Johan W. Brouwer, Sandra TI Predictors for Work Participation in Individuals with an Autism Spectrum Disorder: A Systematic Review SO JOURNAL OF OCCUPATIONAL REHABILITATION LA English DT Review DE Autism; Work participation; Predictors ID QUALITY-OF-LIFE; FOLLOW-UP; ASPERGER-SYNDROME; INTELLECTUAL DISABILITY; YOUNG-ADULTS; SUPPORTED-EMPLOYMENT; PROGNOSTIC-FACTORS; CHILDREN; PEOPLE; LANGUAGE AB Introduction Research shows that only about 25% of people with autism are employed. Method We conducted a systematic review on factors facilitating or hindering work participation of people with autism in longitudinal studies. An extensive search in biomedical and psychological databases yielded 204 articles and 18 satisfied all inclusion criteria. We assessed the methodological quality of included studies using an established criteria list. Results Seventeen factors were identified and categorized as disease-related factors, personal factors or external factors. Limited cognitive ability was the only significant predictor consistently found for work outcome. Functional independence and institutionalization were both reported by one study to be significantly related to work outcome. Inconsistent findings or non significant findings were reported for the other fourteen factors. Conclusion These findings emphasize the need for more high quality cohort studies focussing on work participation as the main outcome among people with Autism. C1 [Holwerda, Anja; van der Klink, Jac J. 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Occup. Rehabil. PD SEP PY 2012 VL 22 IS 3 BP 333 EP 352 DI 10.1007/s10926-011-9347-8 PG 20 WC Rehabilitation; Social Issues SC Rehabilitation; Social Issues GA 985MA UT WOS:000307269500006 PM 22270229 ER PT J AU Shen, MD Shih, P Ottl, B Keehn, B Leyden, KM Gaffrey, MS Muller, RA AF Shen, Mark D. Shih, Patricia Oettl, Birgit Keehn, Brandon Leyden, Kelly M. Gaffrey, Michael S. Mueller, Ralph-Axel TI Atypical lexicosemantic function of extrastriate cortex in autism spectrum disorder: Evidence from functional and effective connectivity SO NEUROIMAGE LA English DT Article DE Lexical; Semantic; Visual; Functional connectivity; Structural equation modeling; Autism ID STRUCTURAL EQUATION; RESTING-STATE; SENTENCE COMPREHENSION; ASPERGERS-SYNDROME; CORPUS-CALLOSUM; VISUAL-CORTEX; WHITE-MATTER; MR-IMAGES; FMRI DATA; BRAIN AB Previous studies have suggested atypically enhanced activity of visual cortex during language processing in autism spectrum disorder (ASD). However, it remains unclear whether visual cortical participation reflects isolated processing within posterior regions or functional cooperation with distal brain regions, such as left inferior frontal gyrus (LIFG). We addressed this question using functional connectivity MRI (fcMRI) and structural equation modeling in 14 adolescents and adults with ASD and 14 matched typically developing (TD) participants. Data were analyzed to isolate low-frequency intrinsic fluctuations, by regressing out effects of a semantic decision task. For a right extrastriate seed derived from the strongest cluster of atypical activation in the ASD group, widespread effects of increased connectivity in prefrontal and medial frontal lobes bilaterally were observed for the ASD group, compared to the TD group. A second analysis for a seed in LIFG, derived from pooled activation effects in both groups, also yielded widespread effects of overconnectivity in the ASD group, especially in temporal lobes. Structural equation modeling showed that whereas right extrastriate cortex did not impact function of language regions (left and right IFG, left middle temporal gyrus) in the TD model, it was an integral part of a language circuit in the ASD group. These results suggest that atypical extrastriate activation during language processing in ASD reflects integrative (not isolated) processing. Furthermore, our findings are inconsistent with previous reports of functional underconnectivity in ASD, probably related to removal of task effects required to isolate intrinsic low-frequency fluctuations. (c) 2012 Elsevier Inc. All rights reserved. C1 [Shen, Mark D.; Shih, Patricia; Oettl, Birgit; Keehn, Brandon; Leyden, Kelly M.; Gaffrey, Michael S.; Mueller, Ralph-Axel] San Diego State Univ, Dept Psychol, Brain Dev Imaging Lab, San Diego, CA 92120 USA. [Shen, Mark D.] Univ Calif Davis, MIND Inst, UC Davis Sch Med, Sacramento, CA 95817 USA. [Shih, Patricia] Brown Univ, Dept Neurosci, Providence, RI 02912 USA. [Oettl, Birgit] Univ Tubingen, Dept Psychol, D-72074 Tubingen, Germany. [Keehn, Brandon] San Diego State Univ, Joint Doctoral Program Language & Communicat Diso, San Diego, CA 92182 USA. [Keehn, Brandon] Univ Calif San Diego, San Diego, CA 92103 USA. [Keehn, Brandon] Harvard Univ, Childrens Hosp, Sch Med, Boston, MA 02115 USA. [Gaffrey, Michael S.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA. [Shen, Mark D.] Univ Calif Davis, UC Davis Sch Med, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA. RP Muller, RA (reprint author), San Diego State Univ, Dept Psychol, Brain Dev Imaging Lab, 6363 Alvarado Ct,Suite 200, San Diego, CA 92120 USA. EM amueller@sciences.sdsu.edu FU National Institutes of Health [R01-DC006155, R01-MH081023]; National Institute on Deafness and Other Communicative Disorders, NIDCD [1T32DC007361-03] FX This study was supported by the National Institutes of Health, R01-DC006155 and R01-MH081023, with additional funding from the National Institute on Deafness and Other Communicative Disorders, NIDCD 1T32DC007361-03 (author BK). Special thanks to the participants and families who participated and to Frank Haist, Gang Chen, Wesley Thompson, Ben McKenna, and Aaron Lee for their help and insight on fcMRI and SEM analysis. 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In this study we wanted to deepen and expand the analysis by exploring associations between three (rs1488467, rs4564970, rs1042778) OXTR polymorphisms and aggressive behavior, trait anger as well as anger control in a population-based sample of Finnish men and women (N = 3577) aged between 18 and 49 years (M = 26.45 years, SD = 5.02). A specific aim was to investigate if the polymorphisms would show interactive effects with alcohol consumption on aggressive behavior and trait anger, as well as to explore whether these polymorphisms affect differences in anger control between self-reported sober and intoxicated states. The results showed no main effects of the polymorphisms, however, three interactions between the polymorphisms and alcohol consumption were found. The effect of alcohol consumption on aggressive behavior was moderated by the genotype of the individual on the rs4564970 polymorphism, in line with previous results (Johansson et al., 2012). For trait anger, both the rs1488467 and the rs4564970 polymorphisms interacted with alcohol consumption. It appears that the region of the OXTR gene including both the rs4564970 and the rs1488467 polymorphisms may be involved in the regulation of the relationship between alcohol and aggressive behavior as well as between alcohol and the propensity to react to situations with elevated levels of anger. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Johansson, Ada; Sandnabba, Kenneth; Jern, Patrick; Salo, Benny; Santtila, Pekka] Abo Akad Univ, Dept Psychol & Logoped, FIN-20500 Turku, Finland. [Westberg, Lars] Univ Gothenburg, Sahlgrenska Acad, Dept Pharmacol, Inst Neurosci & Physiol, Gothenburg, Sweden. RP Johansson, A (reprint author), Abo Akad Univ, Dept Psychol & Logoped, FIN-20500 Turku, Finland. EM ada.johansson@abo.fi FU National Graduate School of Psychology, a Center of Excellence Grant from the Stiftelsen for Abo Akademi Foundation [21/22/05]; Academy of Finland [136263, 138291]; Swedish Medical Research Council; Marta Lundqvist Stiftelse; Ake Wibergs Stiftelse; Ahlen-stiftelsen; Jeanssons-stiftelsen; Soderstrom-Konigska Stiftelsen; Swedish Brain Foundation FX This research was financed by the National Graduate School of Psychology, a Center of Excellence Grant from the Stiftelsen for Abo Akademi Foundation (Grant No. 21/22/05), Grant Nos. 136263 and 138291 from the Academy of Finland, the Swedish Medical Research Council, Marta Lundqvist Stiftelse, Ake Wibergs Stiftelse, Ahlen-stiftelsen, Jeanssons-stiftelsen, Soderstrom-Konigska Stiftelsen, and the Swedish Brain Foundation. 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Turan, Yasemin TI Generalized Effects of Social Stories with Task Analysis for Teaching Menstrual Care to Three Young Girls with Autism SO SEXUALITY AND DISABILITY LA English DT Article DE Social stories; Autism spectrum disorders; Disability; Sexual education; Menstrual care; USA ID PARENTAL PERSPECTIVE; SEXUALITY EDUCATION; SPECTRUM DISORDERS; ADOLESCENTS; BEHAVIORS; WOMEN AB Individuals with autism spectrum disorder (ASD) have distinctive needs with respect to sexual development and education. This pilot study evaluates the effectiveness of a parent-implemented Social Story intervention with an embedded visual task analysis to teach menstrual care skills to three young girls with ASD. Skill generalization was evaluated using two different types of pads and a simulated condition (i.e., a pad with red syrup). Social validity of target behaviors, intervention procedures and intervention effects were evaluated. 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C., 1970, INDIAN J MENT RETARD, V3, P50 Myles B. S., 1999, FOCUS AUTISM OTHER D, V14, P82, DOI 10.1177/108835769901400203 Nichols S, 2005, J EVIDENCE BASED PRA, V6, P90 Quilty KM, 2007, REM SPEC EDUC, V28, P182 Realmuto GM, 1999, J AUTISM DEV DISORD, V29, P121, DOI 10.1023/A:1023088526314 RICHMAN GS, 1986, APPL RES MENT RETARD, V7, P21, DOI 10.1016/0270-3092(86)90015-9 RICHMAN GS, 1984, J APPL BEHAV ANAL, V17, P441, DOI 10.1901/jaba.1984.17-441 RUBLE LA, 1993, ARCH SEX BEHAV, V22, P229, DOI 10.1007/BF01541768 Scattone D, 2002, J AUTISM DEV DISORD, V32, P535, DOI 10.1023/A:1021250813367 Schopler E., 1997, HDB AUTISM PERVASIVE, P765 Snell M. E., 2010, INSTRUCTION STUDENTS Soenksen D., 2006, FOCUS AUTISM OTHER D, V21, P36, DOI DOI 10.1177/10883576060210010501 Sparrow S, 1984, VINELAND ADAPTIVE BE Stokes MA, 2005, AUTISM, V9, P266, DOI 10.1177/1362361305053258 Tarnai B, 2008, SEX DISABIL, V26, P29, DOI 10.1007/s11195-007-9067-3 Test D. W., 2010, FOCUS AUTISM OTHER D, V26, P49 Toplis R., 2006, ED PSYCHOL PRACTICE, V22, P53, DOI DOI 10.1080/02667360500512437 Travers J, 2010, EDUC TRAIN AUTISM DE, V45, P284 Wheeler A.J., 1997, MURDOCH CTR PROGRAM, VII Wilkenfeld BF, 2011, SEX DISABIL, V29, P351, DOI 10.1007/s11195-011-9211-y Wrobel M., 2003, TAKING CARE MYSELF H NR 42 TC 4 Z9 4 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0146-1044 J9 SEX DISABIL JI Sex. Disabil. PD SEP PY 2012 VL 30 IS 3 BP 319 EP 336 DI 10.1007/s11195-011-9244-2 PG 18 WC Rehabilitation SC Rehabilitation GA 989FG UT WOS:000307545100006 ER PT J AU Bracher, M Thackray, L AF Bracher, Mike Thackray, Liz TI Understanding Autism: Patients, Doctors, and the History of a Disorder SO SOCIOLOGY OF HEALTH & ILLNESS LA English DT Book Review C1 [Bracher, Mike] Univ Southampton, Southampton SO9 5NH, Hants, England. [Thackray, Liz] Univ Sussex, Brighton BN1 9RH, E Sussex, England. RP Bracher, M (reprint author), Univ Southampton, Southampton SO9 5NH, Hants, England. CR Silverman C, 2012, UNDERSTANDING AUTISM: PARENTS, DOCTORS, AND THE HISTORY OF A DISORDER, P1 NR 1 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0141-9889 EI 1467-9566 J9 SOCIOL HEALTH ILL JI Sociol. Health Ill. PD SEP PY 2012 VL 34 IS 7 BP 1119 EP 1122 PG 4 WC Public, Environmental & Occupational Health; Social Sciences, Biomedical; Sociology SC Public, Environmental & Occupational Health; Biomedical Social Sciences; Sociology GA 984WN UT WOS:000307223600015 ER PT J AU Bracher, M Thackray, L AF Bracher, Mike Thackray, Liz TI The Myth of Autism SO SOCIOLOGY OF HEALTH & ILLNESS LA English DT Book Review C1 [Bracher, Mike] Univ Southampton, Southampton SO9 5NH, Hants, England. [Thackray, Liz] Univ Sussex, Brighton BN1 9RH, E Sussex, England. RP Bracher, M (reprint author), Univ Southampton, Southampton SO9 5NH, Hants, England. CR McCabe N., 2011, MYTH AUTISM NR 1 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0141-9889 J9 SOCIOL HEALTH ILL JI Sociol. Health Ill. PD SEP PY 2012 VL 34 IS 7 BP 1119 EP 1122 PG 4 WC Public, Environmental & Occupational Health; Social Sciences, Biomedical; Sociology SC Public, Environmental & Occupational Health; Biomedical Social Sciences; Sociology GA 984WN UT WOS:000307223600016 ER PT J AU Bracher, M Thackray, L AF Bracher, Mike Thackray, Liz TI A History of Autism: Conversations with the Pioneers SO SOCIOLOGY OF HEALTH & ILLNESS LA English DT Book Review C1 [Bracher, Mike] Univ Southampton, Southampton SO9 5NH, Hants, England. [Thackray, Liz] Univ Sussex, Brighton BN1 9RH, E Sussex, England. RP Bracher, M (reprint author), Univ Southampton, Southampton SO9 5NH, Hants, England. CR Feinstein Adam, 2010, HIST AUTISM CONVERSA Silverman C, 2008, BIOSOCIETIES, V3, P325, DOI 10.1017/S1745855208006236 NR 2 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0141-9889 J9 SOCIOL HEALTH ILL JI Sociol. Health Ill. PD SEP PY 2012 VL 34 IS 7 BP 1119 EP 1122 DI 10.1111/j.1467-9566.2012.01507.x PG 4 WC Public, Environmental & Occupational Health; Social Sciences, Biomedical; Sociology SC Public, Environmental & Occupational Health; Biomedical Social Sciences; Sociology GA 984WN UT WOS:000307223600012 ER PT J AU Steinhausen, HC AF Steinhausen, Hans-Christoph TI Autism spectrum disorders SO ACTA PSYCHIATRICA SCANDINAVICA LA English DT Book Review C1 [Steinhausen, Hans-Christoph] Aarhus Univ Hosp, Aalborg Psychiat Hosp, Chair Child & Adolescent Psychiat, Aalborg, Denmark. RP Steinhausen, HC (reprint author), Aarhus Univ Hosp, Aalborg Psychiat Hosp, Chair Child & Adolescent Psychiat, Aalborg, Denmark. EM hces@rn.dk CR Amaral D., 2011, AUTISM SPECTRUM DISO NR 1 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0001-690X J9 ACTA PSYCHIAT SCAND JI Acta Psychiatr. Scand. PD SEP PY 2012 VL 126 IS 3 BP 229 EP 229 DI 10.1111/j.1600-0447.2012.01881.x PG 1 WC Psychiatry SC Psychiatry GA 986WE UT WOS:000307375500008 ER PT J AU Schwartzberg, ET Silverman, MJ AF Schwartzberg, Edward Todd Silverman, Michael J. TI Effects of pitch, rhythm, and accompaniment on short- and long-term visual recall in children with autism spectrum disorders SO ARTS IN PSYCHOTHERAPY LA English DT Article DE ASD; Autism; Memory; Music; Music therapy; Paired-associate; Recall; Visual ID RECOGNITION MEMORY; MUSIC; INFORMATION; STUDENTS; TEXT; PERFORMANCE; RETENTION; MELODIES AB The purpose of the study was to examine paired associate effects of speech, rhythm, pitch, and accompaniment on short- and long-term recall of visual information in children with ASD and in neuro-typical children. The principle investigator (PI) collected phase one data (n = 42 children with ASD) during three separate one-week summer camps and phase two data (n = 14 neuro-typical children) during an academic year at a local religious institution. Participants received the seven-item visual stimuli paired with one of four music conditions (speech, rhythm, pitch, and accompaniment). The PI tested participants in both short- and long-term conditions. Results for phase one were statistically significant for term, with more accurate recall during the short-term phase. Although there were no significant between-condition differences, short- and long-term recall were most accurate during the accompaniment condition and least accurate in the speech condition. Regardless of condition, participants had better recall during sequential positions of primacy and recency. Neuro-typical participants had higher mean recall across all four conditions and two terms than participants with ASD. When delivering visual information to children with ASD, clinicians might consider pairing it with music to facilitate recall. Implications for clinical practice, limitations, and suggestions for future research are provided. (C) 2012 Elsevier Inc. All rights reserved. C1 [Schwartzberg, Edward Todd] Univ Minnesota, Sch Mus, Minneapolis, MN 55455 USA. RP Schwartzberg, ET (reprint author), Univ Minnesota, Sch Mus, 100 Ferguson Hall,2106 4th St S, Minneapolis, MN 55455 USA. EM schwa155@umn.edu CR AMELI R, 1988, J AUTISM DEV DISORD, V18, P601, DOI 10.1007/BF02211878 BARTH C, 1995, DEV NEUROPSYCHOL, V11, P53 Bauman ML, 2005, INT J DEV NEUROSCI, V23, P183, DOI 10.1016/j.ijdevneu.2004.09.006 Bondy A. S., 1994, FOCUS AUTISTIC BEHAV, V9, P1, DOI DOI 10.1177/108835769400900301 Brown MW, 2001, NAT REV NEUROSCI, V2, P51, DOI 10.1038/35049064 Brownell MD, 2002, J MUSIC THER, V39, P117 Choi BC, 2008, J MUSIC THER, V45, P93 Claussen D. 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PD SEP PY 2012 VL 39 IS 4 BP 314 EP 320 DI 10.1016/j.aip.2012.05.001 PG 7 WC Psychology, Clinical; Rehabilitation SC Psychology; Rehabilitation GA 984QB UT WOS:000307205000012 ER PT J AU Harrison, A Tchanturia, K Naumann, U Treasure, J AF Harrison, Amy Tchanturia, Kate Naumann, Ulrike Treasure, Janet TI Social emotional functioning and cognitive styles in eating disorders SO BRITISH JOURNAL OF CLINICAL PSYCHOLOGY LA English DT Article ID AUTISM SPECTRUM DISORDERS; WEAK CENTRAL COHERENCE; ANOREXIA-NERVOSA; PROCESSING STREAM; ASPERGER-SYNDROME; REVISED VERSION; RECOVERY; VALIDATION; ATTENTION; INTERVIEW AB Objectives. Contemporary models of eating disorders (EDs) argue that both cognitive style (weak coherence and poor set shifting) and social emotional difficulties are involved in the maintenance of EDs. This study aimed to explore the factor structure of cognitive and social emotional functioning and to investigate whether a particular cognitive or social emotional profile was associated with a more severe and chronic form of illness. Design. A cross-sectional design was used to investigate cognitive and social emotional functioning in people with EDs compared to healthy controls (HCs) and those recovered from an ED. Methods. Two hundred twenty-five participants were assessed (100 with an ED, 35 recovered from an ED, and 90 HCs) using a battery of set shifting, coherence, and social emotional measures. Results. There were no significant correlations between the cognitive or social emotional variables. A principal components analysis (PCA) identified three components: a fragmented perseverative cognitive style, for which the ED group scored highly, a global flexible cognitive style, for which HCs scored highly, and a social emotional difficulties profile, for which those with EDs scored highly. Individuals in recovery from an ED did not differ from the acute group, suggesting this cognitive and social emotional profile may be a trait associated with EDs. ED participants scoring highest for the fragmented perseverative cognitive style and social emotional difficulties had a more severe and chronic form of illness. Conclusions. The findings provide empirical support for Schmidt and Treasure's (2006) maintenance model of EDs and suggest both cognition and emotional functioning should be considered in treatment. C1 [Harrison, Amy; Tchanturia, Kate; Treasure, Janet] Kings Coll London, Inst Psychiat, Sect Eating Disorders, London SE1 9RT, England. [Naumann, Ulrike] Kings Coll London, Inst Psychiat, Dept Biostat & Comp, London SE1 9RT, England. RP Harrison, A (reprint author), Kings Coll London, Guys Hosp, Eating Disorders Res Unit, Dept Psychol Med,Inst Psychiat, 5th Floor, London SE1 9RT, England. 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A., 2002, GROUP EMBEDDED FIGUR NR 59 TC 16 Z9 16 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0144-6657 J9 BRIT J CLIN PSYCHOL JI Br. J. Clin. Psychol. PD SEP PY 2012 VL 51 BP 261 EP 279 DI 10.1111/j.2044-8260.2011.02026.x PN 3 PG 19 WC Psychology, Clinical SC Psychology GA 973ZM UT WOS:000306399400002 PM 22803934 ER PT J AU Fletcher-Watson, S Leekam, SR Connolly, B Collis, JM Findlay, JM McConachie, H Rodgers, J AF Fletcher-Watson, Sue Leekam, Susan R. Connolly, Brenda Collis, Jess M. Findlay, John M. McConachie, Helen Rodgers, Jacqui TI Attenuation of change blindness in children with autism spectrum disorders SO BRITISH JOURNAL OF DEVELOPMENTAL PSYCHOLOGY LA English DT Article ID WILLIAMS-SYNDROME; NATURALISTIC SCENES; EYE-MOVEMENTS; ATTENTION; INDIVIDUALS; INFORMATION; PERCEPTION; COMPETENCE; COHERENCE; COGNITION AB Change blindness refers to the difficulty most people find in detecting a difference between two pictures when these are presented successively, with a brief interruption between. Attention at the site of the change is required for detection. A number of studies have investigated change blindness in adults and children with autism spectrum disorders (ASD). Some have produced evidence that people with ASD find changes to social stimuli harder to detect and changes to non-social stimuli easier to detect, relative to comparison participants. However, other studies have produced entirely contradictory findings. There is a need for consistency in methodology to aid understanding of change blindness and attentional processes in ASD. Here, we replicate a change blindness study previously carried out with typically developing (TD) children and adults and with adults with ASD. Results reveal attenuated change blindness for non-social stimuli in children with ASD relative to TD norms. Our results are interpreted, alongside others' findings, as potentially indicative of a complex relationship between different influences on attention over time. C1 [Fletcher-Watson, Sue] Univ Edinburgh, Moray House Sch Educ, Edinburgh EH8 8AQ, Midlothian, Scotland. [Leekam, Susan R.; Collis, Jess M.; Findlay, John M.] Univ Durham, Dept Psychol, Durham DH1 3HP, England. [Fletcher-Watson, Sue; Connolly, Brenda; McConachie, Helen] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [Rodgers, Jacqui] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. 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Despite much progress in defining abnormal signaling pathways including the contribution of increased mTORC1 signaling, specific abnormalities that underlie the severe neurologic features in TSC remain poorly understood. We hypothesized that epilepsy and autism in TSC result from abnormalities of gamma-aminobutyric acidergic (GABAergic) interneurons. To test this hypothesis, we generated conditional knockout mice with selective deletion of the Tsc1 gene in GABAergic interneuron progenitor cells. These interneuron-specific Tsc1 conditional knockout (CKO) mice have impaired growth and decreased survival. Cortical and hippocampal GABAergic interneurons of CKO mice are enlarged and show increased mTORC1 signaling. Total numbers of GABAergic cells are reduced in the cortex with differential reduction of specific GABAergic subtypes. Ectopic clusters of cells with increased mTORC1 signaling are also seen suggesting impaired interneuron migration. The functional consequences of these cellular changes are evident in the decreased seizure threshold on exposure to the proconvulsant flurothyl. These findings support an important role for the Tsc1 gene during GABAergic interneuron development, function, and possibly migration. C1 [Fu, Cary; Cawthon, Bryan; Clinkscales, William; Bruce, Adrienne; Winzenburger, Peggy; Ess, Kevin C.] Vanderbilt Univ, Dept Neurol, Nashville, TN 37232 USA. [Ess, Kevin C.] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37232 USA. RP Ess, KC (reprint author), Vanderbilt Univ, Dept Neurol, 465 21st Ave S,6158 MRBIII, Nashville, TN 37232 USA. EM kevin.ess@vanderbilt.edu FU American Epilepsy Society/Milken Family Early Career Award; National Institute of Neurological Disorders and Stroke; National Institutes of Health (NIH) [5K08NS050484]; Tuberous Sclerosis Alliance Postdoctoral Fellowship award; National Institute of Mental Health, NIH [T32 MH065215-07]; Vanderbilt Ingram Cancer Center [P30 CA68485]; Vanderbilt Digestive Disease Research Center [DK058404] FX American Epilepsy Society/Milken Family Early Career Award; National Institute of Neurological Disorders and Stroke; National Institutes of Health (NIH) (5K08NS050484) (to K.C.E.). Additional support from a Tuberous Sclerosis Alliance Postdoctoral Fellowship award as well as National Institute of Mental Health, NIH (T32 MH065215-07) (to C.F.).We thank Dr Kenneth Campbell for his generous gift of Dlx5/6-Cre-IRES-EGFP transgenic mice. Flow cytometry experiments were performed in the VMC Flow Cytometry Shared Resource. The VMC Flow Cytometry Shared Resource is supported by the Vanderbilt Ingram Cancer Center (P30 CA68485) and the Vanderbilt Digestive Disease Research Center (DK058404). Conflict of Interest : None declared. 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The pervasive and severe deficits often present in children with ASD are associated with a plethora of difficulties in caregivers, including decreased parenting efficacy, increased parenting stress, and an increase in mental and physical health problems compared with parents of both typically developing children and children with other developmental disorders. In addition to significant financial strain and time pressures, high rates of divorce and lower overall family well-being highlight the burden that having a child with an ASD can place on families. These parent and family effects reciprocally and negatively impact the diagnosed child and can even serve to diminish the positive effects of intervention. However, most interventions for ASD are evaluated only in terms of child outcomes, ignoring parent and family factors that may have an influence on both the immediate and long-term effects of therapy. 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PD SEP PY 2012 VL 47 IS 3 BP 302 EP 318 PG 17 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 983OT UT WOS:000307129300005 ER PT J AU Shurr, J Taber-Doughty, T AF Shurr, Jordan Taber-Doughty, Teresa TI Increasing Comprehension for Middle School Students with Moderate Intellectual Disability on Age-Appropriate Texts SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID READING-COMPREHENSION; STRUGGLING READERS; CHILDREN; WORD; COMMUNICATION; INSTRUCTION; CURRICULUM; EDUCATION; LITERATE; AUTISM AB Students with moderate intellectual disability experience a lack of comparable access to literature as compared to their nondisabled peers (Browder et al., 2009; Kliewer, 1998). Problems in access for many of these students may be attributed to low expectations and inadequate support on behalf of students as well as a lack of sufficient literacy skills instruction. Given these issues, the literature students are able to access often is not representative of their chronological age. Literacy interventions such as read-alouds have been successfully used in special and general education alike to provide students access to literature beyond their present skill level. Using a multiple-probe design, investigators read typical age-appropriate texts and examined the effectiveness of pairing texts with the picture symbols and discussion in improving student comprehension. Discussion and implications of the findings within this study are included. C1 [Shurr, Jordan] Cent Michigan Univ, Dept Counseling & Special Educ, Mt Pleasant, MI 48859 USA. [Taber-Doughty, Teresa] Purdue Univ, W Lafayette, IN 47907 USA. RP Shurr, J (reprint author), Cent Michigan Univ, Dept Counseling & Special Educ, 321 Educ & Human Serv Bldg, Mt Pleasant, MI 48859 USA. 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TI Effects of Combined Reading and Question Generation on Reading Fluency and Comprehension of Three Young Adults With Autism and Intellectual Disability SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE young adults; autism; reading intervention; comprehension; factual; inferential ID LEARNING-DISABILITIES; COGNITIVE DISABILITIES; SPECTRUM DISORDERS; STUDENTS; STRATEGIES; INTERVENTIONS; INDIVIDUALS; INSTRUCTION; PROGRESS; CHILDREN AB Reread-Adapt and Answer-Comprehend (RAAC) is a reading intervention designed to target fluency and comprehension for students with disabilities. Previous researchers have demonstrated the effectiveness of the intervention for students with learning disabilities. This study extended the research by using the RAAC intervention with three postsecondary students with autism spectrum disorder. In the context of a multiple baseline across participants design, the results can be interpreted to conclude that the RAAC intervention may improve oral reading fluency and comprehension for young adults with autism. Using the linear weekly growth model based on the slope, the authors calculated realistic and ambitious goals. Participants' fluency gains exceeded the ambitious levels of growth and transferred to unpracticed passages. In addition, all participants correctly answered more factual and inferential comprehension questions during the intervention. C1 [Hua, Youjia] Univ Iowa, Dept Teaching & Learning, Lindquist Ctr N256, Iowa City, IA 52242 USA. RP Hua, YJ (reprint author), Univ Iowa, Dept Teaching & Learning, Lindquist Ctr N256, Iowa City, IA 52242 USA. 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J., 2008, LEARNING DISABILITIE, V15, P33 Therrien WJ, 2004, REM SPEC EDUC, V25, P252, DOI 10.1177/07419325040250040801 University of Oregon, 2005, DYN IND BAS EARL LIT Wexler J, 2008, READ WRIT, V21, P317, DOI 10.1007/s11145-007-9085-7 Whalon KJ, 2009, FOCUS AUTISM DEV DIS, V24, P3, DOI 10.1177/1088357608328515 NR 36 TC 2 Z9 2 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1088-3576 J9 FOCUS AUTISM DEV DIS JI Focus Autism Dev. Disabil. PD SEP PY 2012 VL 27 IS 3 BP 135 EP 146 DI 10.1177/1088357612448421 PG 12 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 987WS UT WOS:000307449200001 ER PT J AU Lerner, MD Mikami, AY AF Lerner, Matthew D. Mikami, Amori Y. TI A Preliminary Randomized Controlled Trial of Two Social Skills Interventions for Youth With High-Functioning Autism Spectrum Disorders SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE high-functioning autism; social skills intervention; randomized-controlled trial; treatment effectiveness evaluation; psychotherapy research ID CONTROLLED CLINICAL-TRIALS; CHILDREN; PROGRAM; PSYCHOTHERAPIES; METAANALYSIS; INDIVIDUALS; ADOLESCENTS; FRIENDSHIP; OUTCOMES; THERAPY AB This study examined the effects of two social skills interventions, Sociodramatic Affective Relational Intervention (SDARI) and Skillstreaming, to compare their treatment mechanisms, social performance- and knowledge-training. A total of 13 youth with autism spectrum disorders were randomly assigned to 4 weeks of 1-day/week SDARI or Skillstreaming. Groups were matched on parent and child demographics, and intervention staff training. Participants were assessed on social behavior during treatment sessions, peer sociometrics, staff-reported social skills, and parent-reported social skill generalization. Results indicated that both groups increased in reciprocated friendship nominations and staff-reported social skills. Relative to Skillstreaming participants, SDARI participants liked and interacted more with each other after a single session. However, Skillstreaming participants increased in peer liking and interaction over the course of the intervention; SDARI participants decreased slightly. Parents reported no change in social functioning at home. Implications for research and practice are discussed. C1 [Lerner, Matthew D.] Univ Virginia, Dept Psychol, Charlottesville, VA 22904 USA. [Mikami, Amori Y.] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada. RP Lerner, MD (reprint author), Univ Virginia, Dept Psychol, 102 Gilmer Hall,POB 400400, Charlottesville, VA 22904 USA. 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D., 2009, ASS PSYCH SCI ANN CO Lerner MD, 2011, AUTISM, V15, P21, DOI 10.1177/1362361309353613 Lopata C, 2010, J AUTISM DEV DISORD, V40, P1297, DOI 10.1007/s10803-010-0989-8 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Lord C., 1999, MANUAL AUTISM DIAGNO Matson JL, 2007, BEHAV MODIF, V31, P682, DOI 10.1177/0145445507301650 MESIBOV GB, 1984, J AUTISM DEV DISORD, V14, P395, DOI 10.1007/BF02409830 Pierce A., 2010, PUTTING SPOTLI UNPUB Rao PA, 2008, J AUTISM DEV DISORD, V38, P353, DOI 10.1007/s10803-007-0402-4 Reichow B, 2010, J AUTISM DEV DISORD, V40, P149, DOI 10.1007/s10803-009-0842-0 Rotheram-Fuller E, 2010, J CHILD PSYCHOL PSYC, V51, P1227, DOI 10.1111/j.1469-7610.2010.02289.x Rutter M., 2005, SCQ SOCIAL COMMUNICA Smith T, 2007, J AUTISM DEV DISORD, V37, P354, DOI 10.1007/s10803-006-0173-3 Wampold BE, 1997, PSYCHOL BULL, V122, P203, DOI 10.1037/0033-2909.122.3.203 Westen D, 2004, PSYCHOL BULL, V130, P631, DOI 10.1037/0033-2909.130.4.631 Westen D, 2005, PSYCHOL BULL, V131, P427, DOI 10.1037/0033-2909.131.3.427 White SW, 2007, J AUTISM DEV DISORD, V37, P1858, DOI 10.1007/s10803-006-0320-x NR 48 TC 7 Z9 7 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1088-3576 J9 FOCUS AUTISM DEV DIS JI Focus Autism Dev. Disabil. PD SEP PY 2012 VL 27 IS 3 BP 147 EP 157 DI 10.1177/1088357612450613 PG 11 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 987WS UT WOS:000307449200002 ER PT J AU Pennington, RC Delano, ME AF Pennington, Robert C. Delano, Monica E. TI Writing Instruction for Students With Autism Spectrum Disorders: A Review of Literature SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Review DE autism spectrum disorders; writing instruction; evidence-based practice; review ID ASPERGER-SYNDROME; DEVELOPMENTAL-DISABILITIES; PLANNING INSTRUCTION; ADOLESCENT STUDENTS; SPECIAL-EDUCATION; CHILDREN; INDIVIDUALS; METAANALYSIS; COMMUNICATION; INTERVENTION AB Historically, learners with autism spectrum disorders (ASD) have not had access to the general education curriculum. Current legislation mandates that all children, including children with ASD, have access to and make progress in the general education curriculum. This article contains a review of the literature on writing instruction for children with ASD. Investigation yielded 15 studies with 29 participants with ASD ages 4 to 21 years. Based on the studies reviewed, we concluded that students with ASD benefit from explicit writing instruction, but more research is needed to establish an evidence-based set of practices to guide educators in the development of effective writing programs for this population of students. Strategies that are particularly promising and suggestions for future research are given. C1 [Pennington, Robert C.] Univ Louisville, Dept Teaching & Learning, Coll Educ & Human Dev, Louisville, KY 40292 USA. RP Pennington, RC (reprint author), Univ Louisville, Dept Teaching & Learning, Coll Educ & Human Dev, Louisville, KY 40292 USA. 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S. Department of Education, 2001, 23 US DEP ED Yamamoto J, 1999, RES DEV DISABIL, V20, P355, DOI 10.1016/S0891-4222(99)00017-7 NR 45 TC 7 Z9 7 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1088-3576 J9 FOCUS AUTISM DEV DIS JI Focus Autism Dev. Disabil. PD SEP PY 2012 VL 27 IS 3 BP 158 EP 167 DI 10.1177/1088357612451318 PG 10 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 987WS UT WOS:000307449200003 ER PT J AU Sciutto, M Richwine, S Mentrikoski, J Niedzwiecki, K AF Sciutto, Mark Richwine, Sally Mentrikoski, Janelle Niedzwiecki, Kathryn TI A Qualitative Analysis of the School Experiences of Students With Asperger Syndrome SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE Asperger syndrome; qualitative methods; school experiences ID OF-LIFE; AUTISM; CHILDREN; CHALLENGES; SPECTRUM AB In this study, adults with Asperger syndrome (AS) and caregivers of children with AS provided firsthand accounts of school-related challenges and influential instructional practices. A total of 94 participants (59 parents, 27 adults with AS, and 8 unspecified) completed an online survey containing open-ended questions about their (or their children's) school-related experiences. Participants identified specific areas of need (e.g., bullying, misunderstood intentions) related to understanding children with AS. In addition, participants described teacher qualities and instructional practices (e.g., strategies for communicating that the child is an asset, methods of structuring the environment for success) that had a positive impact on their (or their children's) school experiences. Implications for teacher training and school-based interventions are highlighted. C1 [Sciutto, Mark; Richwine, Sally] Muhlenberg Coll, Allentown, PA 18104 USA. [Mentrikoski, Janelle] W Virginia Univ, Morgantown, WV 26506 USA. [Niedzwiecki, Kathryn] Edmond Publ Sch Dist, Edmond, OK USA. RP Sciutto, M (reprint author), Muhlenberg Coll, 2400 W Chew St, Allentown, PA 18104 USA. 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M., 2003, EARLY CHILD DEV CARE, V173, P435, DOI 10.1080/0300443032000079113 Portway SM, 2005, HEALTH RISK SOC, V7, P73, DOI 10.1080/09500830500042086 Prior M., 2003, LEARNING BEHAV PROBL Klin A, 2003, CHILD ADOL PSYCH CL, V12, P1, DOI 10.1016/S1056-4993(02)00052-4 Winter-Messiers M., 2007, FOCUS AUTISM OTHER D, V22, P67, DOI 10.1177/10883576070220020701 NR 26 TC 6 Z9 6 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1088-3576 J9 FOCUS AUTISM DEV DIS JI Focus Autism Dev. Disabil. PD SEP PY 2012 VL 27 IS 3 BP 177 EP 188 DI 10.1177/1088357612450511 PG 12 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 987WS UT WOS:000307449200005 ER PT J AU Smith, MD Graveline, PJ Smith, JB AF Smith, Marcia Datlow Graveline, Patrick J. Smith, Jared Brian TI Autism and Obstacles to Medical Diagnosis and Treatment: Two Case Studies SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE autism; illness; misdiagnosis ID CARDIOVASCULAR-DISEASE; PATIENT COMMUNICATION; SPECTRUM DISORDERS; HEALTH-CARE; PEOPLE; BASE AB Autism is a developmental disability that provides special challenges to families, schools, and adult support systems. An additional area that is affected by the symptoms of autism is medicine. The deficits associated with autism in the areas of communication and social skills, as well as the prevalence of challenging behavior can interfere with the diagnosis of illnesses and in some cases result in the provision of erroneous treatment. In this article, the authors present two case studies describing individuals with autism whose catastrophic illnesses were misdiagnosed due, at least partially, to their autism. 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Disabil. PD SEP PY 2012 VL 27 IS 3 BP 189 EP 195 DI 10.1177/1088357612450049 PG 7 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 987WS UT WOS:000307449200006 ER PT J AU Kiykim, E Soyucen, E Zeybek, ACA Cansever, MS Aydin, A AF Kiykim, E. Soyucen, E. Zeybek, Aktuglu A. C. Cansever, M. S. Aydin, A. TI ZINC/COPPER METABOLISM IN AUTISM SO JOURNAL OF INHERITED METABOLIC DISEASE LA English DT Meeting Abstract C1 [Kiykim, E.; Soyucen, E.; Zeybek, Aktuglu A. C.; Cansever, M. S.; Aydin, A.] Ist Uni, Div Ped Nutr & Met, Cerr Med F, Istanbul, Turkey. NR 0 TC 0 Z9 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 0141-8955 J9 J INHERIT METAB DIS JI J. Inherit. Metab. Dis. PD SEP PY 2012 VL 35 SU 1 BP S139 EP S139 PG 1 WC Endocrinology & Metabolism; Genetics & Heredity SC Endocrinology & Metabolism; Genetics & Heredity GA 988TH UT WOS:000307513100485 ER PT J AU Spilioti, MG Trama, D Michailidi, E Spanou, S Frysira, H Haidopoulou, A Metaxas, S Asprangathou, D Bondi, E Tsalkidis, AJ Kardaras, P Wevers, R Jakobs, C Evangeliou, AE Gibson, KM AF Spilioti, M. G. Trama, D. Michailidi, E. Spanou, S. Frysira, H. Haidopoulou, A. Metaxas, S. Asprangathou, D. Bondi, E. Tsalkidis, A. J. Kardaras, P. Wevers, R. Jakobs, C. Evangeliou, A. E. Gibson, K. M. TI INBORN ERRORS OF METABOLISM (IEM) AND ASSOCIATED METABOLIC DISTURBANCES DETECTED IN A COHORT OF GREEK PATIENTS WITH AUTISM SPECTRUM DISORDER (ASD) SO JOURNAL OF INHERITED METABOLIC DISEASE LA English DT Meeting Abstract C1 [Spilioti, M. G.] AHEPA Hosp, Dept Neurol 1, Thessaloniki, Greece. [Trama, D.; Spanou, S.; Haidopoulou, A.; Asprangathou, D.; Evangeliou, A. E.] Papageorgiou Hosp, Dept Pediat, Thessaloniki, Greece. [Michailidi, E.; Kardaras, P.] Hippokrateion Hosp, Dept Pediat 3, Thessaloniki, Greece. [Frysira, H.] Agia Sophia Childrens Hosp, Athens, Greece. [Metaxas, S.] Papageorgiou Hosp, HNO Dept, Thessaloniki, Greece. [Bondi, E.] Papageorgiou Hosp, Dept Psychiat, Thessaloniki, Greece. [Tsalkidis, A. J.] Univ Hosp Alexandroupolis, Alexandroupolis, Greece. [Wevers, R.] Univ Nijmegen Hosp, NL-6500 HB Nijmegen, Netherlands. [Jakobs, C.] Akad Univ Hosp Amsterdam, Amsterdam, Netherlands. [Gibson, K. M.] Wash State Univ, Spokane, WA USA. RI Wevers, Ron/H-8116-2014 OI Wevers, Ron/0000-0003-2278-9746 NR 0 TC 0 Z9 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 0141-8955 J9 J INHERIT METAB DIS JI J. Inherit. Metab. Dis. PD SEP PY 2012 VL 35 SU 1 BP S169 EP S169 PG 1 WC Endocrinology & Metabolism; Genetics & Heredity SC Endocrinology & Metabolism; Genetics & Heredity GA 988TH UT WOS:000307513100593 ER PT J AU McClean, B Grey, I AF McClean, Brian Grey, Ian TI An evaluation of an intervention sequence outline in positive behaviour support for people with autism and severe escape-motivated challenging behaviour SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY LA English DT Article DE positive behaviour support; multi-element behaviour support; severe challenging behaviour ID CHILDREN; HEALTH AB Background Positive behaviour support emphasises the impact of contextual variables to enhance participation, choice, and quality of life. This study evaluates a sequence for implementing changes to key contextual variables for 4 individuals. Interventions were maintained and data collection continued over a 3-year period. Method Functional assessments were conducted with 4 individuals with exceptionally severe challenging behaviours. Interventions were based on the multi-element model of behavioural support (LaVigna & Willis, 2005a). Dependent variables were behavioural ratings of (1) frequency, (2) episodic severity, (3) episodic management difficulty, and measures of (4) mental health status, and (5) quality of life. The intervention sequence was low arousal environment, rapport building, predictability, functionally equivalent skills teaching, and differential reinforcement strategies. Results Substantial reductions in target behaviours were observed, along with incremental improvement in mental health scores and quality-of-life scores. Conclusion The study demonstrates the efficacy of positive behaviour support for people with exceptionally severe behaviour in individually designed services. C1 [McClean, Brian] Bros Char Serv, Roscommon, Ireland. [Grey, Ian] Trinity Coll Dublin, Sch Psychol, Dublin, Ireland. RP McClean, B (reprint author), Bros Char Serv, Roscommon, Ireland. EM bmcclean@indigo.ie CR Carr E. G., 1994, COMMUNICATION BASED Duncan B. L., 2010, HEART SOUL CHANGE Field T, 2001, AUTISM, V5, P317, DOI 10.1177/1362361301005003008 Green VA, 2006, RES DEV DISABIL, V27, P70, DOI 10.1016/j.ridd.2004.12.002 HARRIS P, 1993, J INTELL DISABIL RES, V37, P221 Hofmann S. G., 2006, FOCUS AUTISM OTHER D, V21, P100, DOI DOI 10.1177/10883576060210020101 HORNER RH, 1990, J ASSOC PERS SEVERE, V15, P125 Johnston JM, 2009, STRATEGIES AND TACTICS OF BEHAVIORAL RESEARCH, THIRD EDITION, P1 Kincaid D, 2002, J POSIT BEHAV INTERV, V4, P109, DOI 10.1177/109830070200400206 Koegel L. K., 1996, POSITIVE BEHAV SUPPO Koegel LK, 2000, J AUTISM DEV DISORD, V30, P383, DOI 10.1023/A:1005539220932 LaVigna G. W., 1994, PERIODIC SERVICE REV LaVigna G. 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TI "We are all there silently coping." The hidden experiences of parents of adults with Asperger syndrome SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY LA English DT Article DE adults; Asperger syndrome; family; independence; support ID INTERPRETATIVE PHENOMENOLOGICAL ANALYSIS; PERVASIVE DEVELOPMENTAL DISORDER; AUTISM SPECTRUM DISORDER; INTELLECTUAL DISABILITIES; YOUNG-PEOPLE; CHILD; PERCEPTIONS; ADOLESCENTS; MOTHERS; POPULATION AB Background The experiences of older parents of adults with Asperger syndrome have not been explored in the research literature. Method Four families who had middle-aged offspring with Asperger syndrome were interviewed (3 mothers and 1 couple), and the interviews were analysed using interpretative phenomenological analysis (IPA). Results Six themes emerged from the analysis: (a) providers of "hidden" support, (b) role of advocate, (c) social isolation, (d) intrafamilial relationships, (e) support for parents, and (f) future concerns. Conclusions The findings of this study offer insight into the experience of parents of adult sons with Asperger syndrome. Implications for future support interventions and research are suggested. C1 [Griffith, Gemma M.] Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales. RP Griffith, GM (reprint author), Bangor Univ, Sch Psychol, Brigantia Bldg,Penrallt Rd, Bangor LL57 2AS, Gwynedd, Wales. 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PD SEP PY 2012 VL 37 IS 3 BP 237 EP 247 DI 10.3109/13668250.2012.701729 PG 11 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 986RC UT WOS:000307360900007 PM 22852754 ER PT J AU Bagozzi, RP Verbeke, WJMI van den Berg, WE Rietdijk, WJR Dietvorst, RC Worm, L AF Bagozzi, Richard P. Verbeke, Willem J. M. I. van den Berg, Wouter E. Rietdijk, Wim J. R. Dietvorst, Roeland C. Worm, Loek TI Genetic and neurological foundations of customer orientation: field and experimental evidence SO JOURNAL OF THE ACADEMY OF MARKETING SCIENCE LA English DT Article DE Knowledge brokering; Opportunity recognition; Genetics; Customer orientation; Neuroscience; Biomarkers; Personal selling; Marketing concept ID MIRROR-NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; HUMAN FUSIFORM GYRUS; GENERAL-APPROACH; HUMAN EMPATHY; PERSPECTIVE; KNOWLEDGE; SALES; MIND; SALESPEOPLE AB We explore genetic and neurological bases for customer orientation (CO) and contrast them with sales orientation (SO). Study 1 is a field study that establishes that CO, but not SO, leads to greater opportunity recognition. Study 2 examines genetic bases for CO and finds that salespeople with CO are more likely to have the 7R variant of the DRD4 gene. This is consistent with basic research on dopamine receptor activity in the brain that underlies novelty seeking, the reward function, and risk taking. 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PD SEP PY 2012 VL 40 IS 5 BP 639 EP 658 DI 10.1007/s11747-011-0271-4 PG 20 WC Business SC Business & Economics GA 979EH UT WOS:000306797400002 ER PT J AU Anckarsater, H Hofvander, B Billstedt, E Gillberg, IC Gillberg, C Wentz, E Rastam, M AF Anckarsater, H. Hofvander, B. Billstedt, E. Gillberg, I. C. Gillberg, C. Wentz, E. Rastam, M. TI The sociocommunicative deficit subgroup in anorexia nervosa: autism spectrum disorders and neurocognition in a community-based, longitudinal study SO PSYCHOLOGICAL MEDICINE LA English DT Article DE Anorexia nervosa; autism spectrum disorder; cognition; personality; social interaction ID NEUROPSYCHIATRIC DISORDERS; PERSONALITY-DISORDERS; DIAGNOSTIC INTERVIEW; EMOTIONAL AWARENESS; FUNCTIONING AUTISM; NORMATIVE DATA; ONSET; TEMPERAMENT; CHILDHOOD; CHARACTER AB Background. A subgroup of persons with anorexia nervosa (AN) have been proposed to have sociocommunicative problems corresponding to autism spectrum disorders [ASDs, i.e. DSM-IV pervasive developmental disorders (PDDs): autistic disorder, Asperger's disorder, PDD not otherwise specified (NOS)]. Here, clinical problems, personality traits, cognitive test results and outcome are compared across 16 subjects (32%) with teenage-onset AN who meet or have met ASD criteria (AN + ASD), 34 ASD-negative AN subjects and matched controls from a longitudinal Swedish study including four waves of independent assessments from the teens to the early thirties. Method. The fourth wave included the Structured Clinical Interview for DSM-IV (SCID)-I and the SCID-II (cluster C, i.e. 'anxious' PDs) interviews, the Asperger Syndrome Diagnostic Interview, self-assessments by the Autism Spectrum Quotient and the Temperament and Character Inventory, neurocognitive tests by subscales from the Wechsler scales, continuous performance tests, Tower of London, and Happe's cartoons. Results. The ASD assessments had substantial inter-rater reliability over time (Cohen's kappa between 0.70 and 0.80 with previous assessments), even if only six subjects had been assigned a diagnosis of an ASD in all four waves of the study, including retrospective assessments of pre-AN neurodevelopmental problems. The AN + ASD group had the highest prevalence of personality disorders and the lowest Morgan-Russell scores. The non-ASD AN group also differed significantly from controls on personality traits related to poor interpersonal functioning and on neurocognitive tests. Conclusions. A subgroup of subjects with AN meet criteria for ASDs. They may represent the extreme of neurocognitive and personality problems to be found more generally in AN. C1 [Anckarsater, H.; Billstedt, E.; Gillberg, I. C.; Gillberg, C.; Wentz, E.; Rastam, M.] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Gothenburg, Sweden. [Anckarsater, H.; Hofvander, B.] Lund Univ, Dept Clin Sci, Malmo, Sweden. [Wentz, E.] Swedish Inst Hlth Sci, Vardal Inst, Lund, Sweden. [Rastam, M.] Lund Univ, Dept Clin Sci, Lund, Sweden. RP Anckarsater, H (reprint author), Lillhagspk 3, S-42250 Hisings Backa, Sweden. EM henrik.anckarsater@neuro.gu.se FU Swedish Research Council [K2006-21X-20048-01-2]; government grants under the ALF agreement; Knut and Alice Wallenberg's Foundation; SoderstromKonigska Nursing Home Foundation; Swedish Medical Society; Goteborg Freemasons FX This work was supported by the Swedish Research Council (K2006-21X-20048-01-2), government grants under the ALF agreement, Knut and Alice Wallenberg's Foundation, the SoderstromKonigska Nursing Home Foundation, the Swedish Medical Society, and the Goteborg Freemasons. 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The social brain comes with a distinctive back-story, an evolutionary history organized around three, interconnected themes: mind-reading, empathy, and the emergence of self-consciousness. This paper focuses on how empathy has been incorporated into the social brain and redefined via parallel research streams, employing a shared, imaging technology. The concluding section describes how these developments can be understood as signaling the emergence of a new version of human nature and the unconscious. My argument is not that empathy in the social brain is a myth, but rather that it is served by a myth consonant with the canons of science. C1 McGill Univ, Montreal, PQ H3A 2T5, Canada. RP Young, A (reprint author), McGill Univ, Montreal, PQ H3A 2T5, Canada. EM allan.young@mcgill.ca FU Social Science and Humanities Research Council of Canada FX This paper has been supported by a research grant provided by the Social Science and Humanities Research Council of Canada. 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TI Executive Functioning in Children with ADHD and Children with Autism Spectrum Disorders SO ARCHIVES OF CLINICAL NEUROPSYCHOLOGY LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0887-6177 J9 ARCH CLIN NEUROPSYCH JI Arch. Clin. Neuropsychol. PD SEP PY 2012 VL 27 IS 6 BP 672 EP 672 PG 1 WC Psychology, Clinical; Psychology SC Psychology GA 988NH UT WOS:000307497300246 ER PT J AU Hubbard, AL McNealy, K Zeeland, AASV Callan, DE Bookheimer, SY Dapretto, M AF Hubbard, Amy L. McNealy, Kristin Zeeland, Ashley A. Scott-Van Callan, Daniel E. Bookheimer, Susan Y. Dapretto, Mirella TI Altered integration of speech and gesture in children with autism spectrum disorders SO BRAIN AND BEHAVIOR LA English DT Article DE Autism spectrum disorders; fMRI; gesture; language; superior temporal gyrus AB The presence of gesture during speech has been shown to impact perception, comprehension, learning, and memory in normal adults and typically developing children. In neurotypical individuals, the impact of viewing co-speech gestures representing an object and/or action (i.e., iconic gesture) or speech rhythm (i.e., beat gesture) has also been observed at the neural level. Yet, despite growing evidence of delayed gesture development in children with autism spectrum disorders (ASD), few studies have examined how the brain processes multimodal communicative cues occurring during everyday communication in individuals with ASD. Here, we used a previously validated functional magnetic resonance imaging (fMRI) paradigm to examine the neural processing of co-speech beat gesture in children with ASD and matched controls. Consistent with prior observations in adults, typically developing children showed increased responses in right superior temporal gyrus and sulcus while listening to speech accompanied by beat gesture. Children with ASD, however, exhibited no significant modulatory effects in secondary auditory cortices for the presence of co-speech beat gesture. Rather, relative to their typically developing counterparts, children with ASD showed significantly greater activity in visual cortex while listening to speech accompanied by beat gesture. Importantly, the severity of their socio-communicative impairments correlated with activity in this region, such that the more impaired children demonstrated the greatest activity in visual areas while viewing co-speech beat gesture. These findings suggest that although the typically developing brain recognizes beat gesture as communicative and successfully integrates it with co-occurring speech, information from multiple sensory modalities is not effectively integrated during social communication in the autistic brain. C1 [Hubbard, Amy L.; McNealy, Kristin; Zeeland, Ashley A. Scott-Van; Dapretto, Mirella] Univ Calif Los Angeles, Ahmanson Lovelace Brain Mapping Ctr, Los Angeles, CA USA. [Hubbard, Amy L.] Carnegie Mellon Univ, Dept Modern Languages, Pittsburgh, PA 15213 USA. [Hubbard, Amy L.; Callan, Daniel E.] Dept Computat Brain Imaging, Neural Informat Anal Labs, Kyoto, Japan. [McNealy, Kristin; Zeeland, Ashley A. Scott-Van] Univ Calif Los Angeles, Neurosci Interdept Program, Los Angeles, CA USA. [Bookheimer, Susan Y.; Dapretto, Mirella] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA USA. RP Hubbard, AL (reprint author), Carnegie Mellon Univ, Dietrich Coll Human & Social Sci, Dept Modern Languages, Baker Hall 160, Pittsburgh, PA 15213 USA. EM hubbarda@andrew.cmu.edu FU NRSA predoctoral fellowship [F31 DC008762-01A1]; NICHD [P50 HD055784]; Foundation for Psychocultural Research-UCLA Center for Culture, Brain, and Development; National Center for Research Resources (NCRR) [RR12169, RR13642, RR00865]; National Institutes of Health (NIH); NIH training grant [T32 DC000041]; Mellon Postdoctoral Fellowship in the Humanities; National Institute of Information and Communications Technology FX This study was, in part, supported by a NRSA predoctoral fellowship to Amy Hubbard (F31 DC008762-01A1), NICHD (P50 HD055784), the Foundation for Psychocultural Research-UCLA Center for Culture, Brain, and Development; grants (RR12169, RR13642, and RR00865) from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH); further support for this research was provided by a postdoctoral fellowship awarded to Amy Hubbard from NIH training grant (T32 DC000041) to UCSD Center for Research in Language; an A. W. Mellon Postdoctoral Fellowship in the Humanities to Amy Hubbard; and the National Institute of Information and Communications Technology. 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PD SEP PY 2012 VL 2 IS 5 BP 606 EP 619 DI 10.1002/brb3.81 PG 14 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA V35UT UT WOS:000209174200009 PM 23139906 ER PT J AU Fan, J Bernardi, S Van Dam, NT Anagnostou, E Gu, XS Martin, L Park, Y Liu, X Kolevzon, A Soorya, L Grodberg, D Hollander, E Hof, PR AF Fan, Jin Bernardi, Silvia Van Dam, Nicholas T. Anagnostou, Evdokia Gu, Xiaosi Martin, Laura Park, Yunsoo Liu, Xun Kolevzon, Alexander Soorya, Latha Grodberg, David Hollander, Eric Hof, Patrick R. TI Functional deficits of the attentional networks in autism SO BRAIN AND BEHAVIOR LA English DT Article DE Alerting; anterior cingulate cortex; attentional networks; autism; executive control AB Attentional dysfunction is among the most consistent observations of autism spectrum disorders (ASD). However, the neural nature of this deficit in ASD is still unclear. In this study, we aimed to identify the neurobehavioral correlates of attentional dysfunction in ASD. We used the Attention Network Test-Revised and functional magnetic resonance imaging to examine alerting, orienting, and executive control functions, as well as the neural substrates underlying these attentional functions in unmedicated, high-functioning adults with ASD (n = 12) and matched healthy controls (HC, n = 12). Compared with HC, individuals with ASD showed increased error rates in alerting and executive control, accompanied by lower activity in the mid-frontal gyrus and the caudate nucleus for alerting, and by the absence of significant functional activation in the anterior cingulate cortex (ACC) for executive control. In addition, greater behavioral deficiency in executive control in ASD was correlated with less functional activation of the ACC. These findings of behavioral and neural abnormalities in alerting and executive control of attention in ASD may suggest core attentional deficits, which require further investigation. C1 [Fan, Jin; Van Dam, Nicholas T.] CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA. [Fan, Jin; Bernardi, Silvia; Van Dam, Nicholas T.; Anagnostou, Evdokia; Gu, Xiaosi; Martin, Laura; Park, Yunsoo; Liu, Xun; Kolevzon, Alexander; Soorya, Latha; Grodberg, David] Mt Sinai Sch Med, Dept Psychiat, New York, NY USA. [Fan, Jin; Gu, Xiaosi; Hof, Patrick R.] Mt Sinai Sch Med, Fishberg Dept Neurosci, New York, NY USA. [Fan, Jin; Gu, Xiaosi; Hof, Patrick R.] Mt Sinai Sch Med, Friedman Brain Inst, New York, NY USA. [Fan, Jin; Bernardi, Silvia; Anagnostou, Evdokia; Kolevzon, Alexander; Soorya, Latha; Grodberg, David] Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY USA. [Hollander, Eric] Albert Einstein Coll Med, New York, NY USA. [Hollander, Eric] Montefiore Med Ctr, New York, NY USA. RP Fan, J (reprint author), CUNY Queens Coll, Dept Psychol, 65-30 Kissena Blvd, Flushing, NY 11367 USA. EM jin.fan@qc.cuny.edu RI Gu, Xiaosi/A-7724-2010; Liu, Xun/C-2400-2009; Fan, Jin/A-6716-2009 OI Liu, Xun/0000-0003-1366-8926; Fan, Jin/0000-0001-9630-8330 FU National Center for Research Resources (NCRR) [M01 RR000071]; Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine; National Institutes of Health (NIH) [R21 MH083164]; James S. McDonnell Foundation FX This work was supported by National Center for Research Resources (NCRR) Grant M01 RR000071. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of NCRR or National Institute of Mental Health (NIMH). This work was also supported in, part by, Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine, by National Institutes of Health (NIH) grant R21 MH083164 (to J. F.), and by the James S. McDonnell Foundation (to P. R. 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PD SEP PY 2012 VL 2 IS 5 BP 647 EP 660 DI 10.1002/brb3.90 PG 14 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA V35UT UT WOS:000209174200013 PM 23139910 ER PT J AU Stein, LI Polido, JC Najera, SOL Cermak, SA AF Stein, Leah I. Polido, Jose C. Najera, Sandy Oliver Lopez Cermak, Sharon A. TI Oral Care Experiences and Challenges in Children with Autism Spectrum Disorders SO PEDIATRIC DENTISTRY LA English DT Article DE HEALTH PROMOTION; ACCESS TO CARE; AUTISM SPECTRUM DISORDERS; DENTAL CARE FOR DISABLED; OCCUPATIONAL THERAPY AB Purpose: The purpose of this study was to investigate the differences between children with autism spectrum disorders (ASD) and their typically developing peers in relation to aspects of oral care. Methods: Participants included 396 parents of ASD children or typically developing 2- to 18-year-olds. Parents completed a 37-item questionnaire designed by authors to elicit information about oral core in the home and dental office. Descriptive, bivariate, and multivariate regression analyses were conducted to examine the association between diagnostic group and oral care variables. Results: Significantly more parents of ASD children than parents of typically developing children reported difficulty across almost all oral care variables explored, including oral care in the home, oral core at the dentist, and access to oral care. Following multivariate regression to control for possible confounders including age, gender, Hispanic status, and paternal education level all previously significant variables remained significant. Conclusion: This study indicates that children with autism spectrum disorders experience greater difficulties and barriers to care in both the home and dental office settings than their typically developing peers. C1 [Stein, Leah I.; Cermak, Sharon A.] Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA. [Polido, Jose C.] Childrens Hosp Los Angeles, Div Dent, Los Angeles, CA 90027 USA. [Polido, Jose C.] Univ So Calif, Herman Ostrow Sch Dent, Los Angeles, CA USA. [Najera, Sandy Oliver Lopez] Univ So Calif, Keck Sch Med, Div Biostat, Los Angeles, CA 90033 USA. RP Stein, LI (reprint author), Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA. 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S. Department of Health and Human Services, 2000, HLTH PEOPL 2010, V2nd Williams KS, 2009, ACCESS, V23, P34 NR 31 TC 5 Z9 5 PU AMER ACAD PEDIATRIC DENTISTRY PI CHICAGO PA 211 E CHICAGO AVENUE SUITE 1036, CHICAGO, IL 60611-2616 USA SN 0164-1263 EI 1942-5473 J9 PEDIATR DENT JI Pediatr. Dent. PD SEP-OCT PY 2012 VL 34 IS 5 BP 387 EP 391 PG 5 WC Dentistry, Oral Surgery & Medicine; Pediatrics SC Dentistry, Oral Surgery & Medicine; Pediatrics GA V35FE UT WOS:000209135200006 PM 23211914 ER PT J AU Ipser, JC Syal, S Bentley, J Adnams, CM Steyn, B Stein, DJ AF Ipser, Jonathan C. Syal, Supriya Bentley, Judy Adnams, Colleen M. Steyn, Bennie Stein, Dan J. TI 1H-MRS in autism spectrum disorders: a systematic meta-analysis SO METABOLIC BRAIN DISEASE LA English DT Article DE Autism spectrum disorders; Magnetic resonance imaging; Meta-analysis; Asperger syndrome; NAA; Creatine ID MAGNETIC-RESONANCE-SPECTROSCOPY; HIGH-FUNCTIONING AUTISM; TEMPORAL-LOBE EPILEPSY; CEREBRAL-BLOOD-FLOW; N-ACETYL-ASPARTATE; ASPERGER-SYNDROME; WHITE-MATTER; BRAIN-METABOLITES; CHILDHOOD AUTISM; MR SPECTROSCOPY AB We conducted a systematic review and meta-analysis of proton magnetic resonance spectroscopy (1H-MRS) studies comparing autism spectrum disorder (ASD) patients with healthy controls, with the aim of profiling ASD-associated changes in the metabolites N-acetyl-aspartate (NAA) and Creatine (Cr). Meta-regression models of NAA and Cr levels were employed, using data from 20 eligible studies (N = 852), to investigate age-dependent differences in both global brain and region-specific metabolite levels, while controlling for measurement method (Cr-ratio versus absolute concentrations). Decreased NAA concentrations that were specific to children were found for whole-brain grey and white matter. In addition, a significant decrease in NAA was evident across age categories in the parietal cortex, the cerebellum, and the anterior cingulate cortex. Higher levels of Cr were observed for ASD adults than children in global grey matter, with specific increases for adults in the temporal lobe and decreased Cr in the occipital lobe in children. No differences were found for either NAA or Cr in the frontal lobes. These data provide some evidence that ASD is characterized by age-dependent fluctuations in metabolite levels across the whole brain and at the level of specific regions thought to underlie ASD-associated behavioural and affective deficits. Differences in Cr as a function of age and brain region suggests caution in the interpretation of Cr-based ratio measures of metabolites. Despite efforts to control for sources of heterogeneity, considerable variability in metabolite levels was observed in frontal and temporal regions, warranting further investigation. C1 [Ipser, Jonathan C.; Syal, Supriya; Bentley, Judy; Adnams, Colleen M.; Stein, Dan J.] Univ Cape Town, Dept Psychiat & Mental Hlth, ZA-7925 Cape Town, South Africa. [Steyn, Bennie] Univ Stellenbosch, Dept Psychiat, Cape Town, South Africa. RP Ipser, JC (reprint author), Univ Cape Town, Dept Psychiat & Mental Hlth, ZA-7925 Cape Town, South Africa. 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Brain Dis. PD SEP PY 2012 VL 27 IS 3 BP 275 EP 287 DI 10.1007/s11011-012-9293-y PG 13 WC Endocrinology & Metabolism; Neurosciences SC Endocrinology & Metabolism; Neurosciences & Neurology GA 981GC UT WOS:000306953900005 PM 22426803 ER PT J AU Syal, S Hattingh, CJ Fouche, JP Spottiswoode, B Carey, PD Lochner, C Stein, DJ AF Syal, Supriya Hattingh, Coenraad J. Fouche, Jean-Paul Spottiswoode, Bruce Carey, Paul D. Lochner, Christine Stein, Dan J. TI Grey matter abnormalities in social anxiety disorder: a pilot study SO METABOLIC BRAIN DISEASE LA English DT Article DE Social anxiety disorder; MRI; Structural abnormalities; Cortical thickness; Social behaviour ID AUTISM SPECTRUM DISORDERS; MAGNETIC-RESONANCE IMAGES; PREFRONTAL CORTEX; FUNCTIONAL NEUROANATOMY; SEMANTIC DEMENTIA; EMOTIONAL FACES; NEURAL SYSTEMS; AMYGDALA; ACTIVATION; BRAIN AB While a number of studies have explored the functional neuroanatomy of social anxiety disorder (SAD), data on grey matter integrity are lacking. We conducted structural MRI scans to examine the cortical thickness of grey matter in individuals with SAD. 13 unmedicated adult patients with a primary diagnosis of generalized social anxiety disorder and 13 demographically (age, gender and education) matched healthy controls underwent 3T structural magnetic resonance imaging. Cortical thickness and subcortical volumes were estimated using an automated algorithm (Freesurfer Version 4.5). Compared to controls, social anxiety disorder patients showed significant bilateral cortical thinning in the fusiform and post central regions. Additionally, right hemisphere specific thinning was found in the frontal, temporal, parietal and insular cortices of individuals with social anxiety disorder. Although uncorrected cortical grey matter volumes were significantly lower in individuals with SAD, we did not detect volumetric differences in corrected amygdala, hippocampal or cortical grey matter volumes across study groups. Structural differences in grey matter thickness between SAD patients and controls highlight the diffuse neuroanatomical networks involved in both social anxiety and social behavior. Additional work is needed to investigate the causal mechanisms involved in such structural abnormalities in SAD. C1 [Syal, Supriya; Hattingh, Coenraad J.; Stein, Dan J.] Univ Cape Town, Dept Psychiat & Mental Hlth, ZA-7925 Cape Town, South Africa. [Carey, Paul D.; Lochner, Christine; Stein, Dan J.] Univ Stellenbosch, Dept Psychiat, MRC Unit Anxiety & Stress Disorders, Cape Town, South Africa. [Fouche, Jean-Paul; Spottiswoode, Bruce] Univ Cape Town, Dept Human Biol, MRC UCT Med Imaging Res Unit, ZA-7925 Cape Town, South Africa. RP Syal, S (reprint author), Univ Cape Town, Dept Psychiat & Mental Hlth, ZA-7925 Cape Town, South Africa. EM supriya.syal@uct.ac.za RI Stein, Dan/A-1752-2008 OI Stein, Dan/0000-0001-7218-7810 FU Claude Leon Foundation FX Dr. Supriya Syal is supported by a Claude Leon Foundation Postdoctoral Fellowship. We would like to thank Dr. Henri Cararra for his advice on statistical analyses. 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Brain Dis. PD SEP PY 2012 VL 27 IS 3 BP 299 EP 309 DI 10.1007/s11011-012-9299-5 PG 11 WC Endocrinology & Metabolism; Neurosciences SC Endocrinology & Metabolism; Neurosciences & Neurology GA 981GC UT WOS:000306953900007 PM 22527992 ER PT J AU Foley, AG Gannon, S Rombach-Mullan, N Prendergast, A Barry, C Cassidy, AW Regan, CM AF Foley, Andrew G. Gannon, Shane Rombach-Mullan, Nanette Prendergast, Alison Barry, Claire Cassidy, Andrew W. Regan, Ciaran M. TI Class I histone deacetylase inhibition ameliorates social cognition and cell adhesion molecule plasticity deficits in a rodent model of autism spectrum disorder SO NEUROPHARMACOLOGY LA English DT Article DE Histone deacetylase; SAHA; MS-275; Social interaction; Biological motion; Spatial learning; Synaptic plasticity; NCAM PSA ID VALPROIC ACID; MEMORY FORMATION; DEVELOPMENTAL ANOMALIES; BIOLOGICAL MOTION; ANIMAL-MODEL; MUTANT MICE; MOUSE MODEL; ADULT-RAT; N-CAM; EXPRESSION AB In utero exposure of rodents to valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, has been proposed to induce an adult phenotype with behavioural characteristics reminiscent of those observed in autism spectrum disorder (ASD). We have evaluated the face validity of this model in terms of social cognition deficits which are a major core symptom of ASD. We employed the social approach avoidance paradigm as a measure of social reciprocity, detection of biological motion that is crucial to social interactions, and spatial learning as an indicator of dorsal stream processing of social cognition and found each parameter to be significantly impaired in Wistar rats with prior in utero exposure to VPA. We found no significant change in the expression of neural cell adhesion molecule polysialylation state (NCAM PSA), a measure of construct validity, but a complete inability to increase its glycosylation state which is necessary to mount the neuroplastic response associated with effective spatial learning. Finally, in all cases, we found chronic HDAC inhibition, with either pan-specific or HDAC1-3 isoform-specific inhibitors, to significantly ameliorate deficits in both social cognition and its associated neuroplastic response. We conclude that in utero exposure to VPA provides a robust animal model for the social cognitive deficits of ASD and a potential screen for the development of novel therapeutics for this condition. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Regan, Ciaran M.] Univ Coll Dublin, UCD Conway Inst, Sch Biomol & Biomed Sci, Dublin 4, Ireland. [Foley, Andrew G.; Gannon, Shane; Rombach-Mullan, Nanette; Prendergast, Alison; Barry, Claire; Cassidy, Andrew W.] Univ Coll Dublin, NovaUCD, Dublin 4, Ireland. RP Regan, CM (reprint author), Univ Coll Dublin, UCD Conway Inst, Sch Biomol & Biomed Sci, Dublin 4, Ireland. EM ciaran.regan@ucd.ie FU Berand FX AF is a current employee of Berand Neuropharmacology, AF and CR are members of the Board of Directors for Berand Neuropharmacology. All other authors are past employees of Berand Neuropharmacology. Berand provided financial support for the conduct of the research and in the preparation of the article. 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Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA 977DX UT WOS:000306637700027 PM 22683514 ER PT J AU Glumbic, N Brojcin, B AF Glumbic, Nenad Brojcin, Branislav TI Factor structure of the Serbian version of the Children's Communication Checklist-2 SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Pragmatics; Language; Autism; Impairment ID AUTISM SPECTRUM DISORDERS; AUDITORY PROCESSING DISORDER; LANGUAGE IMPAIRMENT; PRAGMATIC LANGUAGE; TEACHER REPORT; PERCEPTION; SPEECH; PARENT; SLI; CCC AB Keeping in mind that traditional tests were largely insensitive to pragmatic impairment, Bishop (2003) created a second version of the Children's Communication Checklist (CCC-2) in order to identify pragmatic deficits in children with communication problems. Unfortunately, it was revealed that certain subscales of the Serbian version of the CCC-2 have unacceptably low internal consistency. Because dividing the test into original subscales did not apply for the Serbian population, the aim of this paper was to determine the factor structure of the CCC-2. The sample consisted of 1344 typically developing, monolingual participants of both sexes, aged from 4 to 17 (M = 9.52; SD = 2.72). Participants were recruited from three statistical regions in Serbia. All participants attended regular kindergarten, elementary or secondary schools. CCC-2 factor analysis was determined by using the principal component method, with Varimax rotation of principal axes. A factor analysis showed that the CCC-2 had three factors (General Communication Ability, Pragmatics and Structural Language Aspects), which accounted for 29.39% of the total variance. A three-factor solution should be further confirmed in the course of a clinical validation of the CCC-2. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Glumbic, Nenad; Brojcin, Branislav] Univ Belgrade, Fac Special Educ & Rehabil, Belgrade 11000, Serbia. RP Brojcin, B (reprint author), Univ Belgrade, Fac Special Educ & Rehabil, Visokog Stevana 2, Belgrade 11000, Serbia. EM branislav06@gmail.com CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Bignell S, 2007, BRIT J DEV PSYCHOL, V25, P499, DOI 10.1348/026151006X171343 Bishop D. V. 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M., 2007, CCC 2 NL CHILDRENS C Geurts HM, 2008, J AUTISM DEV DISORD, V38, P1931, DOI 10.1007/s10803-008-0587-1 Geurts HM, 2009, INT J LANG COMM DIS, V44, P549, DOI 10.1080/13682820802243344 Glumbie N., 2010, BEOGRADSKA DEFEKTOLO, V16, P209 Glumbit N., 2010, SPECIJALNA EDUKACIJA, V9, P3 Grzadzinski R, 2011, J AUTISM DEV DISORD, V41, P1178, DOI 10.1007/s10803-010-1135-3 Helland WA, 2009, SCAND J PSYCHOL, V50, P287, DOI 10.1111/j.1467-9450.2009.00718.x Johnson CP, 2007, PEDIATRICS, V120, P1183, DOI 10.1542/peds.2007-2361 Kehler A., 2004, HDB PRAGMATICS, P241 Kirchner D., 1983, PRAGMATIC ASSESSMENT, P29 Norbury CF, 2004, INT J LANG COMM DIS, V39, P345, DOI 10.1080/13682820410001654883 Phelps-Teraski D., 1992, TEST PRAGMATIC LANGU Quach J., 2009, PEDIATRICS, V123, P287 Ramirez-Inscoe J, 2011, EAR HEARING, V32, P690, DOI 10.1097/AUD.0b013e31821f0538 Solomon M, 2011, SCHIZOPHR RES, V131, P146, DOI 10.1016/j.schres.2011.03.005 Statistical Office of the Republic of Serbia, 2003, CENS POP HOUS BOUS 2 Vezina M., 2011, CANADIAN J SPEECH LA, V35, P244 Volden J, 2009, J AUTISM DEV DISORD, V39, P388, DOI 10.1007/s10803-008-0618-y Volden J, 2010, AM J SPEECH-LANG PAT, V19, P204, DOI 10.1044/1058-0360(2010/09-0011) Waytz A, 2010, TRENDS COGN SCI, V14, P383, DOI 10.1016/j.tics.2010.05.006 Whitehouse AJO, 2008, J COMMUN DISORD, V41, P319, DOI 10.1016/j.jcomdis.2008.01.002 NR 35 TC 0 Z9 1 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0891-4222 J9 RES DEV DISABIL JI Res. Dev. Disabil. PD SEP-OCT PY 2012 VL 33 IS 5 BP 1352 EP 1359 DI 10.1016/j.ridd.2012.03.010 PG 8 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 962MO UT WOS:000305549400003 PM 22522193 ER PT J AU Rumpf, AL Kamp-Becker, I Becker, K Kauschke, C AF Rumpf, Anna-Lena Kamp-Becker, Inge Becker, Katja Kauschke, Christina TI Narrative competence and internal state language of children with Asperger Syndrome and ADHD SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism spectrum disorders; Narrative competence; Internal state language; Theory of mind; Weak central coherence; Asperger Syndrome; ADHD ID DEFICIT-HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; WEAK CENTRAL COHERENCE; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING CHILDREN; PSYCHIATRIC-DISORDERS; AFFECT RECOGNITION; STORY CHARACTERS; MIND AB The central question of the present study was whether there are differences between children with Asperger Syndrome (AS), children with attention deficit hyperactivity disorder (ADHD) and healthy controls (HC) with respect to the organization of narratives and their verbalization of internal states. Oral narrations of a wordless picture book produced by 31 children (11 with AS, 9 with ADHD, 11 HC, aged 8-12) were analyzed regarding the following linguistic variables: story length, sentence structure and sentence complexity, coherence and cohesion of the stories, verbalization of the narrator's perspective, as well as internal state language (verbal reference to mental states). Considerable similarities were noted between the two clinical groups, which deviate from HC children. Narratives of the children with AS and ADHD were shorter than the narratives produced by the HC children. The children of both clinical groups failed to point out the main aspects of the story. In particular, children with AS did not refer to cognitive states as often as the other groups. With respect to narrative coherence, they produced fewer pronominal references than HC children and children with ADHD. 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TI Sleep disruption as a correlate to cognitive and adaptive behavior problems in autism spectrum disorders SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism; Sleep; Adaptive behavior; Intelligence; Sleep disorders ID HIGH-FUNCTIONING AUTISM; SCHOOL-AGE-CHILDREN; PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGER-SYNDROME; DAYTIME BEHAVIOR; WAKE RHYTHM; PATTERNS; ADOLESCENTS; DISTURBANCES; PRESCHOOLERS AB Sleep problems associated with autism spectrum disorders (ASD) have been well documented, but less is known about the effects of sleep problems on day-time cognitive and adaptive performance in this population. Children diagnosed with autism or pervasive developmental disorder-not otherwise specified (PDD-NOS) (N = 335) from 1 to 10 years of age (M = 5.5 years) were evaluated for the relationships of Behavioral Evaluation of Disorders of Sleep (BEDS; Schreck, 1998) scores to measures of intelligence and adaptive behavior. Results suggested that children who slept fewer hours per night had lower overall intelligence, verbal skills, overall adaptive functioning, daily living skills, socialization skills, and motor development. Children who slept fewer hours at night with waking during the night had more communication problems. Breathing related sleep problems and fewer hours of sleep related most often to problems with perceptual tasks. The results indicate that quality of sleep - especially sleep duration - may be related to problems with day-time cognitive and adaptive functioning in children with autism and PDD-NOS. However, future research must be conducted to further understand these relationships. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Mulick, James A.] Ohio State Univ, Nationwide Childrens Hosp Dev Assessment Program, Westerville, OH 43081 USA. RP Schreck, KA (reprint author), Penn State Harrisburg, 777 W Harrisburg Pike,W311 Olmsted Bldg, Middletown, PA 17057 USA. 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Dev. Disabil. PD SEP-OCT PY 2012 VL 33 IS 5 BP 1408 EP 1417 DI 10.1016/j.ridd.2012.03.013 PG 10 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 962MO UT WOS:000305549400009 PM 22522199 ER PT J AU Lin, PI Chien, YL Wu, YY Chen, CH Gau, SSF Huang, YS Liu, SK Tsai, WC Chiu, YN AF Lin, Ping-I Chien, Yi-Ling Wu, Yu-Yu Chen, Chia-Hsiang Gau, Susan Shur-Fen Huang, Yu-Shu Liu, Shih-Kai Tsai, Wen-Che Chiu, Yen-Nan TI The WNT2 gene polymorphism associated with speech delay inherent to autism SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism; WNT2 gene; Haplotype; Age of first phrase; Paternal age ID PATERNAL AGE; LANGUAGE IMPAIRMENT; SUSCEPTIBILITY GENE; SPECTRUM DISORDERS; FOXP2; POPULATION; FAMILY; COMMON; RISK; VARIANTS AB Previous evidence suggests that language function is modulated by genetic variants on chromosome 7q31-36. However, it is unclear whether this region harbors loci that contribute to speech delay in autism. We previously reported that the WNT2 gene located on 7q31 was associated with the risk of autism. Additionally, two other genes on 7q31-36, FOXP2 and the EN2 genes are also found to play a role in language impairment. Therefore, we hypothesize that the WNT2 gene, FOXP2 gene, and EN2 gene, may act in concert to influence language development in the same population. A total of 373 individuals diagnosed with autistic disorder were recruited in the current study. We selected 6 tag single nucleotide polymorphisms (SNPs) within the WNT2 gene, 3 tag SNPs in the FOXP2, and 3 tag SNPs in the EN2 genes, to study the effect of these genes on language development. Age of first phrase was treated as a quantitative trait. We used general linear model to assess the association between speech delay and these variants. The results show that rs2896218 in the WNT2 gene was moderately significantly associated with age of first phrase (permutation p = 0.0045). A three-locus haplotype in the WNT2 gene was significantly associated with age of first phrase (permutation p = 2 x 10(-4)). Furthermore, we detected an interaction effect on age of first phrase between a SNP rs2228946 in the WNT2 gene and another SNP rs6460013 in the EN2 gene (p = 0.0012). Therefore, the WNT2 gene may play a suggestive role in language development in autistic disorder. Additionally, the WNT2 gene and EN2 gene may act in concert to influence the language development in autism. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Lin, Ping-I; Chien, Yi-Ling; Gau, Susan Shur-Fen; Tsai, Wen-Che; Chiu, Yen-Nan] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan. [Lin, Ping-I] Univ Calif San Francisco, Autism & Neurodev Program, San Francisco, CA 94143 USA. [Wu, Yu-Yu; Huang, Yu-Shu] Chang Gung Mem Hosp, Dept Psychiat, Kewishan, Taiwan. [Chen, Chia-Hsiang; Gau, Susan Shur-Fen] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10764, Taiwan. [Chen, Chia-Hsiang] Natl Hlth Res Inst, Div Mental Hlth & Addict Med, Inst Populat Hlth Sci, Zhunan, Taiwan. [Chen, Chia-Hsiang] Tzu Chi Univ, Grad Inst Human Genet, Hualien, Taiwan. [Chen, Chia-Hsiang] Tzu Chi Univ, Inst Med Sci, Hualien, Taiwan. [Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Epidemiol & Prevent Med, Taipei 10764, Taiwan. [Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Brain & Mind Sci, Taipei 10764, Taiwan. [Liu, Shih-Kai] Taoyuan Mental Hosp, Dept Child & Adolescent Psychiat, Dept Hlth, Tao Yuan, Taiwan. RP Gau, SSF (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan S Rd, Taipei 10002, Taiwan. 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Dev. Disabil. PD SEP-OCT PY 2012 VL 33 IS 5 BP 1533 EP 1540 DI 10.1016/j.ridd.2012.03.004 PG 8 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 962MO UT WOS:000305549400023 PM 22522212 ER PT J AU Kocovska, E Fernell, E Billstedt, E Minnis, H Gillberg, C AF Kocovska, Eva Fernell, Elisabeth Billstedt, Eva Minnis, Helen Gillberg, Christopher TI Vitamin D and autism: Clinical review SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Review DE Autism; ASD; Vitamin D; Calcitriol; Calcidiol; Neurodevelopment; Brain; Gene regulation ID D DEFICIENCY; SPECTRUM DISORDERS; D-RECEPTOR; RAT-BRAIN; NEUROPSYCHIATRIC DISORDERS; 1,25-DIHYDROXYVITAMIN D-3; HEALTH CONSEQUENCES; CHILDREN BORN; UP-REGULATION; SERUM-LEVELS AB Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with multiple genetic and environmental risk factors. The interplay between genetic and environmental factors has become the subject of intensified research in the last several years. Vitamin D deficiency has recently been proposed as a possible environmental risk factor for ASD. Objective: The aim of the current paper is to systematically review the research regarding the possible connection between ASD and vitamin D, and to provide a narrative review of the literature regarding the role of vitamin D in various biological processes in order to generate hypotheses for future research. Results: Systematic data obtained by different research groups provide some, albeit very limited, support for the possible role of vitamin D deficiency in the pathogenesis of ASD. There are two main areas of involvement of vitamin D in the human body that could potentially have direct impact on the development of ASD: (1) the brain (its homeostasis, immune system and neurodevelopment) and (2) gene regulation. Conclusion: Vitamin D deficiency - either during pregnancy or early childhood - may be an environmental trigger for ASD in individuals genetically predisposed for the broad phenotype of autism. On the basis of the results of the present review, we argue for the recognition of this possibly important role of vitamin Din ASD, and for urgent research in the field. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Kocovska, Eva; Minnis, Helen] Univ Glasgow, Inst Hlth & Wellbeing, RHSC, Glasgow G3 8SJ, Lanark, Scotland. [Fernell, Elisabeth; Billstedt, Eva; Gillberg, Christopher] Gillberg Neuropsychiat Ctr, SE-41119 Gothenburg, Sweden. RP Kocovska, E (reprint author), Univ Glasgow, Inst Hlth & Wellbeing, RHSC, Caledonia House,Dalnair St,Yorkhill, Glasgow G3 8SJ, Lanark, Scotland. 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PD SEP-OCT PY 2012 VL 33 IS 5 BP 1541 EP 1550 DI 10.1016/j.ridd.2012.02.015 PG 10 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 962MO UT WOS:000305549400024 PM 22522213 ER PT J AU Eriksson, MA Westerlund, J Anderlid, BM Gillberg, C Fernell, E AF Eriksson, Mats Anders Westerlund, Joakim Anderlid, Britt Marie Gillberg, Christopher Fernell, Elisabeth TI First-degree relatives of young children with autism spectrum disorders: Some gender aspects SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism spectrum disorders ASD; Broader phenotype; Prenatal risk factors; Antidepressants; Caesarean section; Maternal mental health; Parental age; Immigrant ID PERINATAL RISK-FACTORS; COPY NUMBER VARIATION; PSYCHIATRIC-DISORDERS; INFANTILE-AUTISM; DEVELOPMENTAL DISORDERS; COMORBIDITY; PREVALENCE; CHILDHOOD; GENETICS; PARENTS AB Prenatal risk factors, with special focus on gender distribution of neurodevelopmental and psychiatric conditions were analysed in first-degree relatives in a population-based group of young children with autism spectrum disorders (ASD). Multiple information sources were combined. This group was contrasted with the general population regarding data from the Swedish Medical Birth register. In the ASD group, information was also obtained at parental interviews focusing on developmental and psychiatric disorders in the family. Compared to the general population, fathers of children with ASD were older and parents more often of non-European origin. Mothers of children with ASD had an increased rate of antidepressant and psychoactive medication use, and of scheduled caesarean sections. Fathers and brothers of children with ASD had high rates of ASD including the broader phenotype. Mothers of children with ASD had high rates of depression and other psychiatric disorders. These findings, hypothetically, could reflect a different ASD phenotype and difficulties diagnosing ASD in females or be an example of the close genetic relation between ASD and other psychiatric disorders. The results suggest that, in clinical and research settings, the familial background in ASD should be reviewed with a broader approach, and not be restricted to "looking out" only for diagnoses and symptoms traditionally accepted as being part of or typical of ASD. The high rate of parents of non-European origin has been noted in many Swedish studies of ASD, but the reason for this association, remains unclear. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Eriksson, Mats Anders] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden. [Eriksson, Mats Anders] Karolinska Inst, Ctr Neurodev Disorders, Stockholm, Sweden. [Westerlund, Joakim] Stockholm Univ, Dept Psychol, S-10691 Stockholm, Sweden. [Anderlid, Britt Marie] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden. [Gillberg, Christopher; Fernell, Elisabeth] Gothenburg Univ, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden. 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Dev. Disabil. PD SEP-OCT PY 2012 VL 33 IS 5 BP 1642 EP 1648 DI 10.1016/j.ridd.2012.03.025 PG 7 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 962MO UT WOS:000305549400035 PM 22554810 ER PT J AU van der Meer, L Kagohara, D Achmadi, D O'Reilly, MF Lancioni, GE Sutherland, D Sigafoos, J AF van der Meer, Larah Kagohara, Debora Achmadi, Donna O'Reilly, Mark F. Lancioni, Giulio E. Sutherland, Dean Sigafoos, Jeff TI Speech-generating devices versus manual signing for children with developmental disabilities SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Augmentative and alternative communication; Communication intervention; Developmental disability; Manual signing; Preference assessment; Speech-generating device ID OF-THE-LITERATURE; ALTERNATIVE COMMUNICATION; INTELLECTUAL DISABILITIES; PICTURE EXCHANGE; PREFERENCE; STUDENTS; AUTISM; INTERVENTIONS; ACQUISITION; INDIVIDUALS AB We compared speed of acquisition and preference for using as speech-generating device (SGD) versus manual signing (MS) as augmentative and alternative communication (AAC) options. Four children with developmental disabilities (DD), aged 5-10 years, were taught to request preferred objects using an iPod (R)-based SGD and MS. Intervention was introduced in a multiple-probe across participants design and SGD and MS conditions were compared in an alternating treatments design. A systematic choice-making paradigm was implemented to determine if the children showed a preference for using SGD or MS. All participants showed increased use of SGD when intervention was introduced, but only three learned under the MS condition. Three participants exhibited a preference for the SGD while the remaining participant demonstrated a preference for using MS. Results support previous studies showing that individuals with DD often show a preference for different AAC options and extend previous data by suggesting that acquisition and maintenance was better for the preferred option. (C) 2012 Elsevier Ltd. All rights reserved. C1 [van der Meer, Larah] Victoria Univ Wellington, Sch Educ Psychol & Pedag, Wellington 6147, New Zealand. [O'Reilly, Mark F.] Univ Texas Austin, Meadows Ctr Prevent Educ Risk, Austin, TX 78712 USA. 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Dev. Disabil. PD SEP-OCT PY 2012 VL 33 IS 5 BP 1658 EP 1669 DI 10.1016/j.ridd.2012.04.004 PG 12 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 962MO UT WOS:000305549400037 PM 22554812 ER PT J AU Adenzato, M Todisco, P Ardito, RB AF Adenzato, Mauro Todisco, Patrizia Ardito, Rita B. TI Social Cognition in Anorexia Nervosa: Evidence of Preserved Theory of Mind and Impaired Emotional Functioning SO PLOS ONE LA English DT Article ID AUTISM SPECTRUM DISORDERS; TORONTO-ALEXITHYMIA-SCALE; NORMAL SEX-DIFFERENCES; EATING-DISORDERS; ASPERGER-SYNDROME; BULIMIA-NERVOSA; INTERHEMISPHERIC COOPERATION; MULTIDIMENSIONAL SCALE; AMYGDALA ACTIVATION; ACQUIRED THEORY AB Background: The findings of the few studies that have to date investigated the way in which individuals with Anorexia Nervosa (AN) navigate their social environment are somewhat contradictory. We undertook this study to shed new light on the social-cognitive profile of patients with AN, analysing Theory of Mind and emotional functioning. Starting from previous evidence on the role of the amygdala in the neurobiology of AN and in the social cognition, we hypothesise preserved Theory of Mind and impaired emotional functioning in patients with AN. Methodology: Thirty women diagnosed with AN and thirty-two women matched for education and age were involved in the study. Theory of Mind and emotional functioning were assessed with a set of validated experimental tasks. A measure of perceived social support was also used to test the correlations between this dimension and the social-cognitive profile of AN patients. Principal Findings: The performance of patients with AN is significantly worse than that of healthy controls on tasks assessing emotional functioning, whereas patients' performance is comparable to that of healthy controls on the Theory of Mind task. Correlation analyses showed no relationship between scores on any of the social-cognition tasks and either age of onset or duration of illness. A correlation between social support and emotional functioning was found. This latter result seems to suggest a potential role of social support in the treatment and recovery of AN. Conclusions: The pattern of results followed the experimental hypothesis. They may be useful to help us better understand the social-cognitive profile of patients with AN and to contribute to the development of effective interventions based on the ways in which patients with AN actually perceive their social environment. C1 [Adenzato, Mauro; Ardito, Rita B.] Univ Turin, Ctr Cognit Sci, Dept Psychol, Turin, Italy. [Adenzato, Mauro] Inst Neurosci, Turin, Italy. [Todisco, Patrizia] Casa Cura Villa Margherita, Ctr Eating Disorders, Vicenza, Italy. RP Adenzato, M (reprint author), Univ Turin, Ctr Cognit Sci, Dept Psychol, Turin, Italy. EM rita.ardito@unito.it RI Adenzato, Mauro/I-5127-2012 FU University of Turin FX This work was supported by University of Turin (Ricerca scientifica finanziata dall'Universita, "Correlati cognitivi e neurali della cognizione sociale" and "Cognizione sociale e attaccamento in popolazioni cliniche e non cliniche"). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. CR Adams Jr R. 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TI Allele-Biased Expression in Differentiating Human Neurons: Implications for Neuropsychiatric Disorders SO PLOS ONE LA English DT Article ID PLURIPOTENT STEM-CELLS; MONOALLELIC EXPRESSION; MOUSE-BRAIN; RNA-SEQ; SCHIZOPHRENIA; GENE; AUTISM; SUSCEPTIBILITY; TRANSCRIPTOME; DUPLICATION AB Stochastic processes and imprinting, along with genetic factors, lead to monoallelic or allele-biased gene expression. Stochastic monoallelic expression fine-tunes information processing in immune cells and the olfactory system, and imprinting plays an important role in development. Recent studies suggest that both stochastic events and imprinting may be more widespread than previously considered. We are interested in allele-biased gene expression occurring in the brain because parent-of-origin effects suggestive of imprinting appear to play a role in the transmission of schizophrenia (SZ) and autism spectrum disorders (ASD) in some families. In addition, allele-biased expression could help explain monozygotic (MZ) twin discordance and reduced penetrance. The ability to study allele-biased expression in human neurons has been transformed with the advent of induced pluripotent stem cell (iPSC) technology and next generation sequencing. Using transcriptome sequencing (RNA-Seq) we identified 801 genes in differentiating neurons that were expressed in an allele-biased manner. These included a number of putative SZ and ASD candidates, such as A2BP1 (RBFOX1), ERBB4, NLGN4X, NRG1, NRG3, NRXN1, and NLGN1. Overall, there was a modest enrichment for SZ and ASD candidate genes among those that showed evidence for allele-biased expression (chi-square, p = 0.02). In addition to helping explain MZ twin discordance and reduced penetrance, the capacity to group many candidate genes affecting a variety of molecular and cellular pathways under a common regulatory process - allele-biased expression - could have therapeutic implications. C1 [Lin, Mingyan; Zheng, Deyou; Lachman, Herbert M.] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA. [Hrabovsky, Anastasia; Pedrosa, Erika; Lachman, Herbert M.] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Bronx, NY 10467 USA. [Wang, Tao] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA. [Zheng, Deyou; Lachman, Herbert M.] Albert Einstein Coll Med, Dominick Purpura Dept Neurosci, Bronx, NY 10467 USA. [Zheng, Deyou] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA. [Lachman, Herbert M.] Albert Einstein Coll Med, Dept Med, Bronx, NY 10467 USA. RP Lin, MY (reprint author), Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA. EM Herb.Lachman@einstein.yu.edu FU National Institutes of Health [MH087840, MH073164]; CTSA Grant from the National Center for Research Resources (NCRR) [UL1RR025750, KL2RR025749, TL1RR025748] FX This work was supported by the National Institutes of Health [MH087840 and MH073164 to HML]. This publication was also supported in part by the CTSA Grant UL1RR025750, KL2RR025749 and TL1RR025748 from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH), and NIH roadmap for Medical Research. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Hull, Court Chu, YunXiang Greene-Colozzi, Emily Sadowski, Abbey R. Leech, Jarrett M. Steinberg, Jason Crawley, Jacqueline N. Regehr, Wade G. Sahin, Mustafa TI Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice SO NATURE LA English DT Article ID TUBEROUS SCLEROSIS COMPLEX; MOUSE MODEL; ULTRASONIC VOCALIZATIONS; BRAIN; DISORDERS; CHILDREN; SURVIVAL; MTORC1 AB Autism spectrum disorders (ASDs) are highly prevalent neurodevelopmental disorders(1), but the underlying pathogenesis remains poorly understood. Recent studies have implicated the cerebellum in these disorders, with post-mortem studies in ASD patients showing cerebellar Purkinje cell (PC) loss(2,3), and isolated cerebellar injury has been associated with a higher incidence of ASDs(4). However, the extent of cerebellar contribution to the pathogenesis of ASDs remains unclear. Tuberous sclerosis complex (TSC) is a genetic disorder with high rates of comorbid ASDs(5) that result from mutation of either TSC1 or TSC2, whose protein products dimerize and negatively regulate mammalian target of rapamycin (mTOR) signalling. TSC is an intriguing model to investigate the cerebellar contribution to the underlying pathogenesis of ASDs, as recent studies in TSC patients demonstrate cerebellar pathology(6) and correlate cerebellar pathology with increased ASD symptomatology(7,8). Functional imaging also shows that TSC patients with ASDs display hypermetabolism in deep cerebellar structures, compared to TSC patients without ASDs(9). However, the roles of Tsc1 and the sequelae of Tsc1 dysfunction in the cerebellum have not been investigated so far. Here we show that both heterozygous and homozygous loss of Tsc1 in mouse cerebellar PCs results in autistic-like behaviours, including abnormal social interaction, repetitive behaviour and vocalizations, in addition to decreased PC excitability. Treatment of mutant mice with the mTOR inhibitor, rapamycin, prevented the pathological and behavioural deficits. These findings demonstrate new roles for Tsc1 in PC function and define a molecular basis for a cerebellar contribution to cognitive disorders such as autism. C1 [Tsai, Peter T.; Greene-Colozzi, Emily; Sadowski, Abbey R.; Leech, Jarrett M.; Steinberg, Jason; Sahin, Mustafa] Harvard Univ, Sch Med, Boston Childrens Hosp, FM Kirby Neurobiol Ctr,Dept Neurol, Boston, MA 02115 USA. [Hull, Court; Chu, YunXiang; Regehr, Wade G.] Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA. [Crawley, Jacqueline N.] NIMH, Lab Behav Neurosci, Intramural Res Program, Bethesda, MD 20892 USA. RP Sahin, M (reprint author), Harvard Univ, Sch Med, Boston Childrens Hosp, FM Kirby Neurobiol Ctr,Dept Neurol, Boston, MA 02115 USA. EM peter.tsai@childrens.harvard.edu; mustafa.sahin@childrens.harvard.edu FU Developmental Neurology Training grant [T32 NS007473]; American Academy of Neurology; Nancy Lurie Marks Family Foundation; National Institutes of Health (NIH) [R01 NS58956]; John Merck Scholars Fund; Autism Speaks; Boston Children's Hospital Translational Research Program; Manton Center for Orphan Disease Research; Boston Children's Hospital Intellectual and Developmental Disabilities Research Center [P30 HD18655]; Intramural Research Program, National Institute of Mental Health; NIH [R01NS032405]; Simons Foundation [SFARI 232304]; Howard Hughes Medical Institute Medical Research Fellowship FX We thank G. Corfas, M. Fagiolini, P. Rosenberg, S. Goldman and the Neurodevelopmental Behavioral Core of Boston Children's Hospital for assistance with behavioural experiments. We are grateful to C. Walsh, L. Benowitz and members of the Sahin laboratory for critical reading of the manuscript, and to M. Gregas for advice regarding statistical analysis. P. T. T. received support from the Developmental Neurology Training grant (T32 NS007473), American Academy of Neurology, and the Nancy Lurie Marks Family Foundation. This work and M. S. are supported in part by the National Institutes of Health (NIH; grant R01 NS58956), the John Merck Scholars Fund, Autism Speaks, the Nancy Lurie Marks Family Foundation, Boston Children's Hospital Translational Research Program, Manton Center for Orphan Disease Research and Boston Children's Hospital Intellectual and Developmental Disabilities Research Center (grant P30 HD18655). J.N.C. is supported by the Intramural Research Program, National Institute of Mental Health. W. G. R. is supported by the NIH (grant R01NS032405) and the Simons Foundation (grant SFARI 232304). Y.X.C. is supported by the Howard Hughes Medical Institute Medical Research Fellowship. 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Nguyen, Nhu Q. T. Wach, Michael M. Wood, Troy D. TI Tandem mass spectrometry of bilin tetrapyrroles by electrospray ionization and collision-induced dissociation SO RAPID COMMUNICATIONS IN MASS SPECTROMETRY LA English DT Article ID NEONATAL JAUNDICE; UROBILIN; PIGMENTS; RESOLUTION; DISORDERS; PRODUCTS; AUTISM AB RATIONALE Bilins are metabolic products of hosts and bacteria on porphyrins, and are markers of health state and human waste contamination. Although bilin tandem mass spectrometry reports exist, their fragmentation behavior as a function of structure has not been compared, nor has fragmentation been examined as a function of collision energy. METHODS The fragmentation of bilins generated by positive ion mode electrospray ionization is examined by collision-induced dissociation (CID). CID on a quadrupole ion trap and on a Fourier transform ion cyclotron resonance (FT-ICR) mass spectrometer as a function of collision energy is compared. Methyl esterification was used to deduce which product ions contain the inner pyrrole rings. FT-ICR high mass accuracy measurements were used to determine the formulas of the resultant product ions. RESULTS The central carbon's bonding to the inner pyrrole rings influences fragmentation. Bilirubin is unique because fragmentation adjacent to the central methylene group between innermost rings predominates, and loss of a terminal pyrrole is observed only with helium collision gas. The other bilins lose the terminal pyrroles first; as CID energy is increased, additional fragmentation due to neutral losses of small molecules such as H2O, CO, CO2, and methanol occurs. CONCLUSIONS Based on these observations, fragmentation schemes for the bilins are proposed that are strongly dependent on the molecular structure and collision energy; only bilirubin fragmentation is influenced significantly by the collision gas used. This report should have value in identification of this class of molecules for biomarker detection. Copyright (C) 2012 John Wiley & Sons, Ltd. C1 [Quinn, Kevin D.; Nguyen, Nhu Q. T.; Wach, Michael M.; Wood, Troy D.] SUNY Buffalo, Dept Chem, Buffalo, NY 14260 USA. [Wood, Troy D.] SUNY Buffalo, Dept Struct Biol, Buffalo, NY 14260 USA. [Nguyen, Nhu Q. T.] Univ Akron, Dept Chem, Akron, OH 44325 USA. RP Wood, TD (reprint author), SUNY Buffalo, Dept Chem, Nat Sci Complex, Buffalo, NY 14260 USA. EM twood@buffalo.edu FU NIH through National Center for Research Resources [S10-RR029517-01] FX We gratefully acknowledge Dr. Christopher L. Pennington and Prof. Yong Seok Choi, who detected stercobilin present in human urine specimens before this study was conducted. We gratefully acknowledge the financial support of the NIH through the National Center for Research Resources for providing the funding used to obtain the FT-ICR instrument (Grant S10-RR029517-01). 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D., 2007, P 55 ASMS C MASS SPE NR 22 TC 3 Z9 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0951-4198 J9 RAPID COMMUN MASS SP JI Rapid Commun. Mass Spectrom. PD AUG 30 PY 2012 VL 26 IS 16 BP 1767 EP 1775 DI 10.1002/rcm.6287 PG 9 WC Biochemical Research Methods; Chemistry, Analytical; Spectroscopy SC Biochemistry & Molecular Biology; Chemistry; Spectroscopy GA 972LY UT WOS:000306279800006 PM 22777778 ER PT J AU Osborn, DPJ Horsfall, L Hassiotis, A Petersen, I Walters, K Nazareth, I AF Osborn, David P. J. Horsfall, Laura Hassiotis, Angela Petersen, Irene Walters, Kate Nazareth, Irwin TI Access to Cancer Screening in People with Learning Disabilities in the UK: Cohort Study in the Health Improvement Network, a Primary Care Research Database SO PLOS ONE LA English DT Article ID INTELLECTUAL DISABILITIES AB Objectives: To assess whether people with learning disability in the UK have poorer access to cancer screening. Design: Four cohort studies comparing people with and without learning disability, within the recommended age ranges for cancer screening in the UK. We used Poisson regression to determine relative incidence rates of cancer screening. Setting: The Health Improvement Network, a UK primary care database with over 450 General practices. Participants: Individuals with a recorded diagnosis of learning disability including general diagnostic terms, specific syndromes, chromosomal abnormalities and autism in their General Practitioner computerised notes. For each type of cancer screening, a comparison cohort of up to six people without learning disability was selected for each person with a learning disability, using stratified sampling on age within GP practice. Main outcome measures: Incidence rate ratios for receiving 1) a cervical smear test, 2) a mammogram, 3) a faecal occult blood test and 4) a prostate specific antigen test. Results: Relative rates of screening for all four cancers were significantly lower for people with learning disability. The adjusted incidence rate ratios (95% confidence intervals) were Cervical smears: Number eligible with learning disability = 6,254; IRR = 0.54 (0.52-0.56). Mammograms: Number eligible with learning disability = 2,956; IRR = 0.76 (0.72-0.81); Prostate Specific Antigen: Number eligible = 3,520; IRR = 0.87 (0.80-0.96) and Faecal Occult Blood Number eligible = 6,566; 0.86 (0.78-0.94). Differences in screening rates were less pronounced in more socially deprived areas. Disparities in cervical screening rates narrowed over time, but were 45% lower in 2008/9, those for breast cancer screening appeared to widen and were 35% lower in 2009. Conclusion: Despite recent incentives, people with learning disability in the UK are significantly less likely to receive screening tests for cancer that those without learning disability. Other methods for reducing inequalities in access to cancer screening should be considered. C1 [Osborn, David P. J.; Hassiotis, Angela] UCL, Mental Hlth Sci Unit, London, England. [Horsfall, Laura; Petersen, Irene; Walters, Kate; Nazareth, Irwin] UCL, Res Dept Primary Care & Populat Hlth, London, England. RP Osborn, DPJ (reprint author), UCL, Mental Hlth Sci Unit, London, England. EM d.osborn@ucl.ac.uk RI Petersen, Irene/I-2751-2012; Petersen, Irene/C-5702-2009 OI Petersen, Irene/0000-0002-0037-7524 FU National Health Service (NHS) Cancer Screening Programme on behalf of the Department of Health for England [JP/pat/L1623] FX The study was commissioned by the National Health Service (NHS) Cancer Screening Programme on behalf of the Department of Health for England. (Grant reference: JP/pat/L1623.) The funder had no role in the data collection/extraction, data analysis, decision to publish, or preparation of the manuscript. CR Ali A, 2008, BRIT MED J, V336, P570, DOI 10.1136/bmj.39490.543137.80 [Anonymous], 2010, ACC HLTH CAR PEOPL L [Anonymous], 2006, EQ TREATM CLOS GAP H [Anonymous], 2006, CANC SCREEN SER NHS Booth N, 1994, Health Libr Rev, V11, P177 Cooper SA, 2004, BRIT MED J, V329, P414, DOI 10.1136/bmj.329.7463.414 Dave S, 2009, PHARMACOEPIDEM DR S, V18, P704, DOI 10.1002/pds.1770 Department of Health, 2001, VAL PEOPL NEW STRAT Disability Rights Commission, 2007, EQ TREATM CLOS GAP O Maguire A, 2009, PHARMACOEPIDEM DR S, V18, P76, DOI 10.1002/pds.1688 Michael J., 2008, HEALTHCARE ALL INDEP NHS Employers, DIR ENH SERV 2011 12 Osborn DPJ, 2011, SCHIZOPHR RES, V129, P104, DOI 10.1016/j.schres.2011.04.003 Raftery J, 2011, BRIT MED J, V343, DOI 10.1136/bmj.d7627 Sasieni P, 2009, BRIT MED J, V339, DOI 10.1136/bmj.b2968 Stark JR, 2009, BRIT MED J, V339, DOI 10.1136/bmj.b3601 Townsend P, 1986, INEQUALITIES HLTH NO NR 17 TC 4 Z9 4 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD AUG 29 PY 2012 VL 7 IS 8 AR e43841 DI 10.1371/journal.pone.0043841 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 997ZC UT WOS:000308206000053 PM 22952783 ER PT J AU Durand-Zaleski, I Scott, J Rouillon, F Leboyer, M AF Durand-Zaleski, Isabelle Scott, Jan Rouillon, Frederic Leboyer, Marion TI A first national survey of knowledge, attitudes and behaviours towards schizophrenia, bipolar disorders and autism in France SO BMC PSYCHIATRY LA English DT Article DE Mental health; Bipolar disorders; Schizophrenia; Autism; Survey; Stigma; Discrimination; Attitudes; Behaviours ID MENTAL-ILLNESS; SOCIAL DISTANCE; PUBLIC BELIEFS; STIGMA; PEOPLE; DANGEROUSNESS; DEPRESSION; PREJUDICE; DISCRIMINATION; ATTRIBUTION AB Background: In order to support evidence-based policies for reduction of stigma, a better understanding of its components: ignorance (knowledge), prejudice (attitude) and discrimination (behaviour) is necessary. This study explores public perceptions and quantifies stigma for three chronic mental disorders: autism, schizophrenia and bipolar disorders in France. Methods: Survey of 1000 adults selected from an established market research panel. The 21-item questionnaire explored knowledge, attitudes and behaviours toward each disorder. Results: Although 95% respondents recognized the names of each disorder fewer than 70% could report specific characteristics and only 33% considered that publically available information was adequate; most respondents identified the media as their main resource. Labeling of conditions in a negative way was frequent (61%) when referring to mental disorders in general, but fell significantly (18%) when linked to an individual with a disorder. Individuals with schizophrenia are assumed to be dangerous; 65% respondents would engage in social distancing from such an individual, versus 29% for bipolar disorders and 7% for autism (p < 0.001). In contrast to other disorders, discrimination against schizophrenia was only partly attenuated in those with familiarity with mental disorders (through personal or family illness). Conclusion: This first population-based survey in France shows that attitudes towards bipolar disorders and autism are less prejudicial than towards schizophrenia. However, most public attitudes and behaviours towards different disorders appear to be based on assumptions rather than knowledge or evidence suggesting a generic information or anti-stigma programme is unlikely to be effective. C1 [Durand-Zaleski, Isabelle; Leboyer, Marion] URCEco & Henri Mondor Albert Chenevier Hosp, AP HP, Dept Publ Hlth & Psychiat, F-94000 Creteil, France. [Durand-Zaleski, Isabelle; Scott, Jan; Leboyer, Marion] Univ Paris E, Fac Med, EA 4393, F-94000 Creteil, France. [Durand-Zaleski, Isabelle; Scott, Jan; Leboyer, Marion] UMR S 955, F-94000 Creteil, France. [Durand-Zaleski, Isabelle; Scott, Jan; Leboyer, Marion] Fdn Cooperat Sci Hop, FondaMental Fdn, F-94000 Creteil, France. [Scott, Jan] Newcastle Univ, Acad Psychiat, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [Rouillon, Frederic] Univ Paris 05, CMME, Hop St Anne, INSERM U 1017, F-75014 Paris, France. [Scott, Jan; Leboyer, Marion] IMRB, INSERM, U 955, F-94000 Creteil, France. RP Leboyer, M (reprint author), URCEco & Henri Mondor Albert Chenevier Hosp, AP HP, Dept Publ Hlth & Psychiat, 51 Ave Marechal Lattre Tassigny, F-94000 Creteil, France. EM marion.leboyer@inserm.fr RI Scott, Jan/F-2966-2010 FU Astra-Zeneca; BMS-Otsuka; Eli-Lilly; GSK; Janssen-Cilag; Lundbeck; Sanofi-Aventis; Servier; Institut National de la Sante et de la Recherche Medicale (INSERM); Fondation FondaMental (Fondation de Cooperation Scientifique pour le developpement de la recherche et des soins en sante mentale) FX IDZ has acted as a speaker, consultant or investigator and received honoraria from the following firms: Johnson & Johnson (Janssen-Cilag), Novartis, MSD, Pasteur, Sanofi-Aventis, GSK, Astra-Zeneca, Medtronic. JLS has acted as a speaker for, attended advisory boards or had unrestricted educational grants from Astra-Zeneca, BMS-Otsuka, Eli-Lilly, GSK, Janssen-Cilag, Lundbeck, Sanofi-Aventis and Servier. ML has acted as a speaker for Servier and Astra-Zeneca. All authors read and approved the final manuscript.This research was supported by Institut National de la Sante et de la Recherche Medicale (INSERM) and Fondation FondaMental (Fondation de Cooperation Scientifique pour le developpement de la recherche et des soins en sante mentale). CR Angermeyer MC, 2003, SOC PSYCH PSYCH EPID, V38, P526, DOI 10.1007/s00127-003-0676-6 Corrigan P, 2003, J HEALTH SOC BEHAV, V44, P162, DOI 10.2307/1519806 Corrigan PW, 2001, SCHIZOPHRENIA BULL, V27, P187 Corrigan PW, 2001, SCHIZOPHRENIA BULL, V27, P219 Corrigan PW, 2000, CLIN PSYCHOL-SCI PR, V7, P48, DOI 10.1093/clipsy/7.1.48 Corrigan PW, 2002, SCHIZOPHRENIA BULL, V28, P293 Denzin N. 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CA Council Cardiovasc Dis Young Council Cardiovasc Nursing Stroke Council TI Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management A Scientific Statement From the American Heart Association SO CIRCULATION LA English DT Article DE AHA Scientific Statements; cardiopulmonary bypass; heart defects, congenital; heart diseases, follow-up studies, brain; pediatrics ID QUALITY-OF-LIFE; HYPOTHERMIC CIRCULATORY ARREST; INFANT CARDIAC-SURGERY; EXTRACORPOREAL MEMBRANE-OXYGENATION; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; FLOW CARDIOPULMONARY BYPASS; AUTISM SPECTRUM DISORDERS; VENTRICULAR SEPTAL-DEFECT; 22Q11.2 DELETION SYNDROME; APOLIPOPROTEIN-E GENOTYPE AB Background-The goal of this statement was to review the available literature on surveillance, screening, evaluation, and management strategies and put forward a scientific statement that would comprehensively review the literature and create recommendations to optimize neurodevelopmental outcome in the pediatric congenital heart disease (CHD) population. Methods and Results-A writing group appointed by the American Heart Association and American Academy of Pediatrics reviewed the available literature addressing developmental disorder and disability and developmental delay in the CHD population, with specific attention given to surveillance, screening, evaluation, and management strategies. MEDLINE and Google Scholar database searches from 1966 to 2011 were performed for English-language articles cross-referencing CHD with pertinent search terms. The reference lists of identified articles were also searched. The American College of Cardiology/American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. A management algorithm was devised that stratified children with CHD on the basis of established risk factors. For those deemed to be at high risk for developmental disorder or disabilities or for developmental delay, formal, periodic developmental and medical evaluations are recommended. A CHD algorithm for surveillance, screening, evaluation, reevaluation, and management of developmental disorder or disability has been constructed to serve as a supplement to the 2006 American Academy of Pediatrics statement on developmental surveillance and screening. The proposed algorithm is designed to be carried out within the context of the medical home. This scientific statement is meant for medical providers within the medical home who care for patients with CHD. Conclusions-Children with CHD are at increased risk of developmental disorder or disabilities or developmental delay. Periodic developmental surveillance, screening, evaluation, and reevaluation throughout childhood may enhance identification of significant deficits, allowing for appropriate therapies and education to enhance later academic, behavioral, psychosocial, and adaptive functioning. (Circulation. 2012; 126: 1143-1172.) 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Bria, A. Sacconi, L. Iannello, G. Pavone, F. S. TI Confocal light sheet microscopy: micron-scale neuroanatomy of the entire mouse brain SO OPTICS EXPRESS LA English DT Article ID PLANE ILLUMINATION MICROSCOPY; OPTICAL SECTIONING MICROSCOPY; STRUCTURED-ILLUMINATION; EMBRYONIC-DEVELOPMENT; INFANTILE-AUTISM; TRANSGENIC MICE; PURKINJE-CELLS; CONTRAST; RECONSTRUCTION; RESOLUTION AB Elucidating the neural pathways that underlie brain function is one of the greatest challenges in neuroscience. Light sheet based microscopy is a cutting edge method to map cerebral circuitry through optical sectioning of cleared mouse brains. However, the image contrast provided by this method is not sufficient to resolve and reconstruct the entire neuronal network. Here we combined the advantages of light sheet illumination and confocal slit detection to increase the image contrast in real time, with a frame rate of 10 Hz. In fact, in confocal light sheet microscopy (CLSM), the out-of-focus and scattered light is filtered out before detection, without multiple acquisitions or any post-processing of the acquired data. The background rejection capabilities of CLSM were validated in cleared mouse brains by comparison with a structured illumination approach. We show that CLSM allows reconstructing macroscopic brain volumes with sub-cellular resolution. We obtained a comprehensive map of Purkinje cells in the cerebellum of L7-GFP transgenic mice. Further, we were able to trace neuronal projections across brain of thy1-GFP-M transgenic mice. The whole-brain high-resolution fluorescence imaging assured by CLSM may represent a powerful tool to navigate the brain through neuronal pathways. Although this work is focused on brain imaging, the macro-scale high-resolution tomographies affordable with CLSM are ideally suited to explore, at micron-scale resolution, the anatomy of different specimens like murine organs, embryos or flies. (C) 2012 Optical Society of America C1 [Silvestri, L.; Sacconi, L.; Pavone, F. S.] Univ Florence, European Lab Nonlinear Spect LENS, I-50121 Florence, Italy. [Bria, A.; Iannello, G.] Univ Campus Biomed Rome, Integrated Res Ctr, Rome, Italy. [Bria, A.] Univ Cassino, Dept Automat Electromagnetism Informat Engn & Ind, Cassino, Italy. [Sacconi, L.; Pavone, F. S.] CNR, Natl Opt Inst, Rome, Italy. [Pavone, F. S.] Univ Florence, Dept Phys, I-50121 Florence, Italy. RP Silvestri, L (reprint author), Univ Florence, European Lab Nonlinear Spect LENS, I-50121 Florence, Italy. EM silvestri@lens.unifi.it RI Iannello, Giulio/G-7331-2011; Sacconi, Leonardo/B-8904-2015; pavone, francesco/F-4945-2015 OI Iannello, Giulio/0000-0003-3864-5800; FU European Union Seventh Framework Programme [228334]; Human Frontier Science Program [RGP0027/2009]; Italian Ministry for Education, University and Research; Ente Cassa di Risparmio di Firenze FX We thank Dr. Anna Letizia Allegra Mascaro and Dr. Francesco Vanzi for helpful discussion about the manuscript, Dr. Filippo Biamonte, Dr. Filippo Giorgi and Dr. Claudia Laperchia for assistance in perfusions, Mr. Riccardo Ballerini for mechanical assistance, Prof. Flavio Keller for providing us with L7-GFP mice. The research leading to these results has received funding from the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement n. 228334. This research project has been also supported by Human Frontier Science Program research grant (RGP0027/2009), and by the Italian Ministry for Education, University and Research in the framework of the Flagship Project NANOMAX. This research has been carried out in the framework of the research activities of ICON foundation supported by "Ente Cassa di Risparmio di Firenze". 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Most of the similar to 100 cadherins that are expressed in the brain exhibit characteristic spatiotemporal expression profiles. Cadherins have been shown to regulate neural tube regionalization, neuronal migration, gray matter differentiation, neural circuit formation, spine morphology, synapse formation and synaptic remodeling. The dysfunction of the cadherin-based adhesive system may alter functional connectivity and coherent information processing in the human brain in neuropsychiatric disease. Several neuropsychiatric disorders, such as epilepsy/mental retardation, autism, bipolar disease and schizophrenia, have been associated with cadherins, mostly by genome-wide association studies. For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency. 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PD AUG 27 PY 2012 VL 1470 BP 130 EP 144 DI 10.1016/j.brainres.2012.06.020 PG 15 WC Neurosciences SC Neurosciences & Neurology GA 004KB UT WOS:000308679500015 PM 22765916 ER PT J AU Wall, DP Dally, R Luyster, R Jung, JY DeLuca, TF AF Wall, Dennis P. Dally, Rebecca Luyster, Rhiannon Jung, Jae-Yoon DeLuca, Todd F. TI Use of Artificial Intelligence to Shorten the Behavioral Diagnosis of Autism SO PLOS ONE LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PRIMARY-CARE; INTERVIEW; BIOINFORMATICS; QUESTIONNAIRE; RELIABILITY; RESOURCE AB The Autism Diagnostic Interview-Revised (ADI-R) is one of the most commonly used instruments for assisting in the behavioral diagnosis of autism. The exam consists of 93 questions that must be answered by a care provider within a focused session that often spans 2.5 hours. We used machine learning techniques to study the complete sets of answers to the ADI-R available at the Autism Genetic Research Exchange (AGRE) for 891 individuals diagnosed with autism and 75 individuals who did not meet the criteria for an autism diagnosis. Our analysis showed that 7 of the 93 items contained in the ADI-R were sufficient to classify autism with 99.9% statistical accuracy. We further tested the accuracy of this 7-question classifier against complete sets of answers from two independent sources, a collection of 1654 individuals with autism from the Simons Foundation and a collection of 322 individuals with autism from the Boston Autism Consortium. In both cases, our classifier performed with nearly 100% statistical accuracy, properly categorizing all but one of the individuals from these two resources who previously had been diagnosed with autism through the standard ADI-R. Our ability to measure specificity was limited by the small numbers of non-spectrum cases in the research data used, however, both real and simulated data demonstrated a range in specificity from 99% to 93.8%. With incidence rates rising, the capacity to diagnose autism quickly and effectively requires careful design of behavioral assessment methods. Ours is an initial attempt to retrospectively analyze large data repositories to derive an accurate, but significantly abbreviated approach that may be used for rapid detection and clinical prioritization of individuals likely to have an autism spectrum disorder. Such a tool could assist in streamlining the clinical diagnostic process overall, leading to faster screening and earlier treatment of individuals with autism. C1 [Wall, Dennis P.; Dally, Rebecca; Jung, Jae-Yoon; DeLuca, Todd F.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA. [Wall, Dennis P.] Beth Israel Deaconess Med Ctr, Dept Pathol, Boston, MA 02215 USA. 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Nesbitt, Addie May McCurdy, Richard M. Alter, Mark D. TI Measuring the Maturity of the Fast-Spiking Interneuron Transcriptional Program in Autism, Schizophrenia, and Bipolar Disorder SO PLOS ONE LA English DT Article ID MITOCHONDRIAL DYSFUNCTION; PSYCHIATRIC-DISORDERS; GENE-EXPRESSION; PATERNAL AGE; SPECTRUM DISORDERS; PREFRONTAL CORTEX; NEURONS; PARVALBUMIN; DISEASE AB Background: Emerging evidence suggests that fast-spiking (FS) interneurons are disrupted in multiple neuropsychiatric disorders including autism, schizophrenia, and bipolar disorder. FS cells, which are the primary source of synaptic inhibition, are critical for temporally organizing brain activity, regulating brain maturation, and modulating critical developmental periods in multiple cortical systems. Reduced expression of parvalbumin, a marker of mature FS cells, has been reported in individuals with schizophrenia and bipolar disorder and in mouse models of schizophrenia and autism. Although these results suggest that FS cells may be immature in neuropsychiatric disease, this possibility had not previously been formally assessed. Methods: This study used time-course global expression data from developing FS cells to create a maturation index that tracked with the developmental age of purified cortical FS cells. The FS cell maturation index was then applied to global gene expression data from human cortex to estimate the maturity of the FS cell developmental program in the context of various disease states. Specificity of the index for FS cells was supported by a highly significant correlation of maturation index measurements with parvalbumin expression levels that withstood correction for multiple covariates. Conclusions: Results suggest the FS cell developmental gene expression program is immature in autism, schizophrenia, and bipolar disorder. 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TI Neurexin and Neuroligin Mediate Retrograde Synaptic Inhibition in C. elegans SO SCIENCE LA English DT Article ID SPECTRUM DISORDERS; AUTISM; MATURATION; MUTATIONS; CELL AB The synaptic adhesion molecules neurexin and neuroligin alter the development and function of synapses and are linked to autism in humans. Here, we found that Caenorhabditis elegans neurexin (NRX-1) and neuroligin (NLG-1) mediated a retrograde synaptic signal that inhibited neurotransmitter release at neuromuscular junctions. Retrograde signaling was induced in mutants lacking a muscle microRNA (miR-1) and was blocked in mutants lacking NLG-1 or NRX-1. Release was rapid and abbreviated when the retrograde signal was on, whereas release was slow and prolonged when retrograde signaling was blocked. The retrograde signal adjusted release kinetics by inhibiting exocytosis of synaptic vesicles (SVs) that are distal to the site of calcium entry. Inhibition of release was mediated by increased presynaptic levels of tomosyn, an inhibitor of SV fusion. C1 [Hu, Zhitao; Hom, Sabrina; Kudze, Tambudzai; Tong, Xia-Jing; Choi, Seungwon; Kaplan, Joshua M.] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA. [Hu, Zhitao; Hom, Sabrina; Tong, Xia-Jing; Choi, Seungwon; Kaplan, Joshua M.] Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA. [Hom, Sabrina; Choi, Seungwon; Kaplan, Joshua M.] Harvard Univ, Sch Med, Program Neurosci, Boston, MA 02115 USA. [Aramuni, Gayane] Max Planck Inst Neurobiol, D-82152 Martinsried, Germany. [Zhang, Weiqi] Univ Munster, Dept Psychiat, D-48149 Munster, Germany. RP Kaplan, JM (reprint author), Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA. EM kaplan@molbio.mgh.harvard.edu FU NSF; NIH [NS32196]; Simons Foundation for Autism Research [SF177948] FX We thank the following for strains, advice, reagents, and comments on the manuscript: C. elegans stock center, S. Mitani, S. Sassi, B. Seed, and members of the Kaplan and Ruvkun labs. This work was supported by an NSF predoctoral fellowship (S. H.) and by research grants to J.M.K. from the NIH (NS32196) and from the Simons Foundation for Autism Research (SF177948). Additional data described in the manuscript are presented in the supplementary materials. 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We show that in our samples, with an average father's age of 29.7, the average de novo mutation rate is 1.20 x 10(-8) per nucleotide per generation. Most notably, the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year. An exponential model estimates paternal mutations doubling every 16.5 years. After accounting for random Poisson variation, father's age is estimated to explain nearly all of the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism. C1 [Kong, Augustine; Frigge, Michael L.; Masson, Gisli; Besenbacher, Soren; Sulem, Patrick; Magnusson, Gisli; Gudjonsson, Sigurjon A.; Sigurdsson, Asgeir; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Sigurdsson, Gunnar; Walters, G. Bragi; Steinberg, Stacy; Helgason, Hannes; Thorleifsson, Gudmar; Gudbjartsson, Daniel F.; Helgason, Agnar; Magnusson, Olafur Th.; Thorsteinsdottir, Unnur; Stefansson, Kari] deCODE Genet, IS-101 Reykjavik, Iceland. [Besenbacher, Soren] Aarhus Univ, Bioinformat Res Ctr, DK-8000 Aarhus, Denmark. [Wong, Wendy S. W.] Illumina Cambridge Ltd, Saffron Walden CB10 1XL, Essex, England. [Thorsteinsdottir, Unnur; Stefansson, Kari] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland. RP Kong, A (reprint author), deCODE Genet, Sturlugata 8, IS-101 Reykjavik, Iceland. EM kong@decode.is; kari.stefansson@decode.is FU National Institutes of Health [MH071425]; European Community [HEALTH-F2-2009-223423, IAPP-MC-251592]; European Community IMI grant EU-AIMS [115300] FX This research was partly funded by The National Institutes of Health grant MH071425 (K.S.); the European Community's Seventh Framework Programme, PsychCNVs project, grant agreement HEALTH-F2-2009-223423, and NextGene project, grant agreement IAPP-MC-251592; The European Community IMI grant EU-AIMS, grant agreement 115300. 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Jones, Kelly A. Woolfrey, Kevin M. Burgdorf, Jeffrey Russell, Theron A. Kalmbach, Abigail Lee, Hyerin Yang, Connie Bradberry, Mazdak M. Wokosin, David Moskal, Joseph R. Casanova, Manuel F. Waters, Jack Penzes, Peter TI Social, Communication, and Cortical Structural Impairments in Epac2-Deficient Mice SO JOURNAL OF NEUROSCIENCE LA English DT Article ID ANTERIOR CINGULATE CORTEX; ULTRASONIC VOCALIZATIONS; MOUSE MODELS; AUTISM; CAMP; DISORDER; MEMORY; RAP1; GENE; SCHIZOPHRENIA AB Deficits in social and communication behaviors are common features of a number of neurodevelopmental disorders. However, the molecular and cellular substrates of these higher order brain functions are not well understood. Here we report that specific alterations in social and communication behaviors in mice occur as a result of loss of the EPAC2 gene, which encodes a protein kinase A-independent cAMP target. Epac2-deficient mice exhibited robust deficits in social interactions and ultrasonic vocalizations, but displayed normal olfaction, working and reference memory, motor abilities, anxiety, and repetitive behaviors. Epac2-deficient mice displayed abnormal columnar organization in the anterior cingulate cortex, a region implicated in social behavior in humans, but not in somatosensory cortex. In vivo two-photon imaging revealed reduced dendritic spine motility and density on cortical neurons in Epac2-deficient mice, indicating deficits at the synaptic level. Together, these findings provide novel insight into the molecular and cellular substrates of social and communication behavior. C1 [Srivastava, Deepak P.; Jones, Kelly A.; Woolfrey, Kevin M.; Russell, Theron A.; Kalmbach, Abigail; Wokosin, David; Waters, Jack; Penzes, Peter] Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA. [Penzes, Peter] Northwestern Univ, Feinberg Sch Med, Dept Psychiat & Behav Sci, Chicago, IL 60611 USA. [Penzes, Peter] Northwestern Univ, Feinberg Sch Med, Lurie Canc Res Ctr, Chicago, IL 60611 USA. [Burgdorf, Jeffrey; Moskal, Joseph R.] Northwestern Univ, Dept Biomed Engn, Evanston, IL 60208 USA. [Lee, Hyerin; Yang, Connie; Bradberry, Mazdak M.] Northwestern Univ, Weinberg Coll Arts & Sci, Evanston, IL 60208 USA. [Casanova, Manuel F.] Univ Louisville, Dept Psychiat, Louisville, KY 40292 USA. [Srivastava, Deepak P.] Kings Coll London, Inst Psychiat, James Black Ctr, Ctr Cellular Basis Behav, London SE5 8AF, England. [Srivastava, Deepak P.] Kings Coll London, Inst Psychiat, James Black Ctr, Dept Neurosci, London SE5 8AF, England. RP Penzes, P (reprint author), Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA. EM p-penzes@northwestern.edu RI Moskal, Joseph/B-7628-2009 FU National Alliance for Autism Research; National Alliance for Research on Schizophrenia and Depression (NARSAD); Alzheimer's Association; Brain Research Foundation [BRF SG 2010-13]; National Institutes of Health (NIH) [2R01MH071316, 1R01MH097216]; American Heart Association (AHA); Royal Society; NIH [F31MH085362, 1R01MH094835, 1R01MH-086784, 1R01HD-065279, 5R21MH085117-02]; Ralph and Marian Falk Medical Research Trust Chicago, IL; National Institute of Neurological Disorders and Stroke [P30NS054850]; Northwestern University Behavioral Phenotyping Core FX This work was supported by the National Alliance for Autism Research, the National Alliance for Research on Schizophrenia and Depression (NARSAD), the Alzheimer's Association, Brain Research Foundation, and National Institutes of Health (NIH) Grants 2R01MH071316 and 1R01MH097216 (P. P.); a pre-doctoral American Heart Association (AHA) fellowship (K. M. W.); a post-doctoral AHA fellowship, a NARSAD Young Investigators award, and a Royal Society International Exchange Grant (D. P. S.); NIH Grant F31MH085362 (K.A.J.); NIH Grant 1R01MH094835 (J.B.); The Ralph and Marian Falk Medical Research Trust Chicago, IL (J.R.M.); NIH Grants 1R01MH-086784 and 1R01HD-065279 (M. F. C.); NIH Grant 5R21MH085117-02 and a Brain Research Foundation Grant BRF SG 2010-13 (J.W.); and a National Institute of Neurological Disorders and Stroke Grant to the Northwestern University Multi-Photon Core (P30NS054850). EPAC2-null mice were generated by Professor Susumu Seino (Kobe University Graduate School of Medicine). This work was supported by the Northwestern University Behavioral Phenotyping Core, and we thank John Linardakis for assistance with behavioral testing. We thank Katharine R. Smith and Natalie C. Tronson for critical reading of this manuscript. 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Recent studies have shown that copy number variations in dosage sensitive genes can contribute significantly to these disorders. One such gene is the transcription factor MECP2, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism. Case presentation: Here, we identified a Chinese family with two brothers both inheriting a 2.2 Mb MECP2 containing duplication (151,369,305 - 153,589,577) from their mother. In addition, both brothers also had a 213.7 kb duplication on Chromosome 2, inherited from their father. The older brother also carried a 48.4 kb duplication on Chromosome 2 inherited from the mother, and a 8.2 kb deletion at 11q13.5 inherited from the father. Based on the published literature, MECP2 is the most autism-associated gene among the identified CNVs. Consistently, the boys displayed clinical features in common with other patients carrying MECP2 duplications, including intellectual disability, autism, lack of speech, slight hypotonia and unsteadiness of movement. They also had slight dysmorphic features including a depressed nose bridge, large ears and midface hypoplasia. Interestingly, they did not exhibit other clinical features commonly observed in American-European patients with MECP2 duplication, including recurrent respiratory infections and epilepsy. Conclusions: To our knowledge, this is the first identification and characterization of Chinese Han patients with MECP2-containing duplications. Further cases are required to determine if the above described clinical differences are due to individual variations or related to the genetic background of the patients. C1 [Xu, Xiu; Xu, Qiong; Zhang, Ying; Wu, Bingbing; Ding, Yanhua; Lu, Ping] Fudan Univ, Childrens Hosp, Dept Child Healthcare, Shanghai 200433, Peoples R China. [Zhang, Xiaodi; Cheng, Tianlin; Zheng, Jingjing; Zhang, Min; Qiu, Zilong; Yu, Xiang] Chinese Acad Sci, Inst Neurosci, Shanghai, Peoples R China. [Zhang, Xiaodi; Cheng, Tianlin; Zheng, Jingjing; Zhang, Min; Qiu, Zilong; Yu, Xiang] Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, Shanghai, Peoples R China. [Zhang, Xiaodi; Cheng, Tianlin; Zheng, Jingjing] Chinese Acad Sci, Grad Sch, Shanghai, Peoples R China. RP Xu, X (reprint author), Fudan Univ, Childrens Hosp, Dept Child Healthcare, Shanghai 200433, Peoples R China. EM xuxiu@shmu.edu.cn; yuxiang@ion.ac.cn FU Ministry of Science and Technology [2011CBA00400]; National Science Foundation of China [31021063, 31125015]; Chinese Academy of Sciences; Shanghai Municipal Health Bureau [GWDTR201220, 12GWZX0301] FX We thank all the children and their families for participating in this study, and thank Ms. Congxiao Yu (Wenmiao Kindergarten, Shanghai) for support in organizing the control subjects for the CGH analysis of this study. We thank Dr. Feng Zhang from Fudan University for advice on CNV analysis. This study was supported by 973 grant 2011CBA00400 from the Ministry of Science and Technology (to XX, ZQ, and XY), grants 31021063 and 31125015 from the National Science Foundation of China (to XY), the Hundred Talent Program from the Chinese Academy of Sciences (to ZQ), and grants GWDTR201220 and 12GWZX0301 from the Shanghai Municipal Health Bureau (to XX). 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Genet. PD AUG 21 PY 2012 VL 13 AR 75 DI 10.1186/1471-2350-13-75 PG 8 WC Genetics & Heredity SC Genetics & Heredity GA 045SY UT WOS:000311718300001 PM 22909152 ER PT J AU Sutcliffe, AG Barnes, J Belsky, J Gardiner, J Melhuish, E AF Sutcliffe, Alastair G. Barnes, Jacqueline Belsky, Jay Gardiner, Julian Melhuish, Edward TI The health and development of children born to older mothers in the United Kingdom: observational study using longitudinal cohort data SO BRITISH MEDICAL JOURNAL LA English DT Article ID YOUNG MATERNAL AGE; PATERNAL AGE; RISK; SCHIZOPHRENIA; OUTCOMES; AUTISM AB Objective To assess relations between children's health and development and maternal age. Design Observational study of longitudinal cohorts. Setting Millennium Cohort Study (a random sample of UK children) and the National Evaluation of Sure Start study (a random sample of children in deprived areas in England), 2001 to 2007. Participants 31 257 children at age 9 months, 24 781 children at age 3 years, and 22 504 at age 5 years. Main outcome measures Childhood unintentional injuries and hospital admissions (aged 9 months, 3 years, and 5 years), immunisations (aged 9 months and 3 years), body mass index, language development, and difficulties with social development (aged 3 and 5 years). Results Associations were independent of personal and family characteristics and parity. The risk of children having unintentional injuries requiring medical attention or being admitted to hospital both declined with increasing maternal age. For example, at three years the risk of unintentional injuries declined from 36.6% for mothers aged 20 to 28.6% for mothers aged 40 and hospital admissions declined, respectively, from 27.1% to 21.6%. Immunisation rates at nine months increased with maternal age from 94.6% for mothers aged 20 to 98.1% for mothers aged 40. At three years, immunisation rates reached a maximum, at 81.3% for mothers aged 27, being lower for younger and older mothers. This was linked to rates for the combined measles, mumps, and rubella immunisation because excluding these resulted in no significant relation with maternal age. An increase in overweight children at ages 3 and 5 years associated with increasing maternal age was eliminated once maternal body mass index was included as a covariate. Language development was associated with improvements with increasing maternal age, with scores for children of mothers aged 20 being lower than those of children of mothers aged 40 by 0.21 to 0.22 standard deviations at ages 3 and 4 years. There were fewer social and emotional difficulties associated with increasing maternal age. Children of teenage mothers had more difficulties than children of mothers aged 40 (difference 0.28 SD at age 3 and 0.16 SD at age 5). Conclusion Increasing maternal age was associated with improved health and development for children up to 5 years of age. C1 [Barnes, Jacqueline; Belsky, Jay; Gardiner, Julian; Melhuish, Edward] Univ London, Inst Study Children Families & Social Issues, London WC1E 7HX, England. [Sutcliffe, Alastair G.] UCL, Inst Child Hlth, London WC1E 6BT, England. [Belsky, Jay] Univ Calif Davis, Davis, CA 95616 USA. RP Melhuish, E (reprint author), Univ London, Inst Study Children Families & Social Issues, London WC1E 7HX, England. EM e.melhuish@bbk.ac.uk FU Wellcome Trust FX This research was funded by the Wellcome Trust through a grant entitled "Health of children born to older mothers"; the funding body had no involvement in the design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, or approval of the manuscript. All authors are independent of the funding agency. CR Berryman J. 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PD AUG 21 PY 2012 VL 345 AR e5116 DI 10.1136/bmj.e5116 PG 10 WC Medicine, General & Internal SC General & Internal Medicine GA 996GP UT WOS:000308073200001 PM 22915663 ER PT J AU Yamada, A Kato, M Suzuki, M Suzuki, M Watanabe, N Akechi, T Furukawa, TA AF Yamada, Atsurou Kato, Misuzu Suzuki, Miyoshi Suzuki, Masako Watanabe, Norio Akechi, Tatsuo Furukawa, Toshi A. TI Quality of life of parents raising children with pervasive developmental disorders SO BMC PSYCHIATRY LA English DT Article ID AUTISM SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; SF-36 HEALTH SURVEY; DOUBLE ABCX MODEL; SOCIAL SUPPORT; FAMILY CAREGIVERS; ASPERGER-SYNDROME; STRESS PROFILES; MENTAL-HEALTH; MOTHERS AB Background: It has been reported that parents of children with pervasive developmental disorders (PDDs) face higher levels of stress. The aims of the present study were; (i) to evaluate the quality of life (QOL) of parents caring for their children with PDDs, and (ii) to explore the correlates of their QOL. Methods: A consecutive sample of parents of children with PDDs aged 6 to 15 were approached. The MOS 36-item Short-Form Health Survey (SF-36) was used to measure the QOL of the parents by eight subscales and two summary measures. Parents' personality and marital relationships were assessed with the NEO Five Factor Inventory and the Intimate Bond Measure, respectively. We characterized the parents' SF-36 profiles in comparison with the national normative scores and explored variables which correlated with their summary measures. Results: Participants were 147 mothers and 122 fathers of 158 children with PDDs. Mothers had significantly lower scores in the areas of Role Physical (RP) Social functioning (SF), General health perceptions (GH), Vitality (VT), Role emotional (RE) and Mental Health (MH) than those among the general female population. The maternal mental component summary (MCS) was also significantly lower, but maternal physical component summary (PCS) and paternal PCS and MCS scores were not lower. Maternal PCS and MCS scores were both significantly associated with the high Care and the low Control scores, but regarding fathers only the paternal PCS scores were significantly associated with the low Control scores. Maternal PCS and MCS and paternal MCS scores were significantly associated with the high Agreeableness scores and the low Neuroticism scores. Multiple regressions have shown that Neuroticism was significantly related to the low MCS scores of mothers and fathers. Next, Care was related to maternal high PCS, and Control was related to maternal low MCS and paternal low PCS. Conclusions: The mothers of children with PDDs had lower QOL scores than those of the Japanese general population especially in mental domains. 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Al-Ayadhi, Laila Y. TI Reduced serum concentrations of 25-hydroxy vitamin D in children with autism: Relation to autoimmunity SO JOURNAL OF NEUROINFLAMMATION LA English DT Article DE Anti-myelin-associated glycoprotein antibodies; Autism; Autoimmunity; Childhood autism rating scale; Vitamin D ID REGULATORY T-CELLS; D DEFICIENCY; SPECTRUM DISORDERS; EGYPTIAN CHILDREN; DISEASE SEVERITY; AUTOANTIBODIES; ANTIBODIES; ASSOCIATION; PROTEIN; FREQUENCY AB Background: Aside from the skeletal health affection, vitamin D deficiency has been implicated as a potential environmental factor triggering for some autoimmune disorders. Vitamin D might play a role in the regulation of the production of auto-antibodies. Immunomodulatory effects of vitamin D may act not only through modulation of T-helper cell function, but also through induction of CD4(+)CD25(high) regulatory T-cells. We are the first to investigate the relationship between serum levels of 25-hydroxy vitamin D and anti-myelin-associated glycoprotein (anti-MAG) auto-antibodies in autistic children. Methods: Serum levels of 25-hydroxy vitamin D and anti-MAG auto-antibodies were measured in 50 autistic children, aged between 5 and 12 years, and 30 healthy-matched children. Serum 25-hydroxy vitamin D levels 10-30 ng/mL and < 10 ng/mL were defined as vitamin D insufficiency and deficiency, respectively. Results: Autistic children had significantly lower serum levels of 25-hydroxy vitamin D than healthy children (P < 0.001) with 40% and 48% being vitamin D deficient and insufficient, respectively. Serum 25-hydroxy vitamin D had significant negative correlations with Childhood Autism Rating Scale (P < 0.001). Increased levels of serum anti-MAG auto-antibodies were found in 70% of autistic patients. Serum 25-hydroxy vitamin D levels had significant negative correlations with serum levels of anti-MAG auto-antibodies (P < 0.001). Conclusions: Vitamin D deficiency was found in some autistic children and this deficiency may contribute to the induction of the production of serum anti-MAG auto-antibodies in these children. However, future studies looking at a potential role of vitamin D in the pathophysiology and treatment of autism are warranted. C1 [Mostafa, Gehan A.; Al-Ayadhi, Laila Y.] King Saud Univ, AL Amodi Autism Res Chair, Autism Res & Treatment Ctr, Dept Physiol,Fac Med, Riyadh, Saudi Arabia. [Mostafa, Gehan A.] Ain Shams Univ, Fac Med, Dept Pediat, Cairo, Egypt. RP Mostafa, GA (reprint author), King Saud Univ, AL Amodi Autism Res Chair, Autism Res & Treatment Ctr, Dept Physiol,Fac Med, Riyadh, Saudi Arabia. EM hafezg@softhome.net FU King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia; NPST, Health Research and Studies program at Kind Saud University FX This work was financially supported by the King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. It was also supported by NPST, Health Research and Studies program at Kind Saud University. 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PD AUG 17 PY 2012 VL 9 AR 201 DI 10.1186/1742-2094-9-201 PG 7 WC Immunology; Neurosciences SC Immunology; Neurosciences & Neurology GA 013WT UT WOS:000309337400001 PM 22898564 ER PT J AU Yamada, T Ohta, H Watanabe, H Kanai, C Tani, M Ohno, T Takayama, Y Iwanami, A Kato, N Hashimoto, R AF Yamada, Takashi Ohta, Haruhisa Watanabe, Hiromi Kanai, Chieko Tani, Masayuki Ohno, Taisei Takayama, Yuko Iwanami, Akira Kato, Nobumasa Hashimoto, Ryuichiro TI Functional Alterations in Neural Substrates of Geometric Reasoning in Adults with High-Functioning Autism SO PLOS ONE LA English DT Article ID WORKING-MEMORY; NEUROCOGNITIVE DEVELOPMENT; FLUID INTELLIGENCE; CORPUS-CALLOSUM; VISUAL-SEARCH; FMRI; PERFORMANCE; TASK; SCHIZOPHRENIA; CONNECTIVITY AB Individuals with autism spectrum condition (ASC) are known to excel in some perceptual cognitive tasks, but such developed functions have been often regarded as "islets of abilities" that do not significantly contribute to broader intellectual capacities. However, recent behavioral studies have reported that individuals with ASC have advantages for performing Raven's (Standard) Progressive Matrices (RPM/RSPM), a standard neuropsychological test for general fluid intelligence, raising the possibility that ASC's cognitive strength can be utilized for more general purposes like novel problem solving. Here, the brain activity of 25 adults with high-functioning ASC and 26 matched normal controls (NC) was measured using functional magnetic resonance imaging (fMRI) to examine neural substrates of geometric reasoning during the engagement of a modified version of the RSPM test. Among the frontal and parietal brain regions involved in fluid intelligence, ASC showed larger activation in the left lateral occipitotemporal cortex (LOTC) during an analytic condition with moderate difficulty than NC. 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Pana, Simona E. Avram, Julia TI Emotional face processing in neurotypicals with autistic traits: Implications for the broad autism phenotype SO PSYCHIATRY RESEARCH LA English DT Article DE Autistic traits; Fear conditioning; Attentional biases; Face processing; Broad autism phenotype; Amygdala theory of autism ID SPECTRUM QUOTIENT AQ; ASPERGER-SYNDROME; GENERAL-POPULATION; FUNCTIONING AUTISM; AMYGDALA THEORY; FAMILY-HISTORY; EYE GAZE; FEAR; DISORDERS; CHILDREN AB The present study investigated emotional face processing in neurotypicals selected for autistic traits (AT). Participants (N = 81), who obtained scores one standard deviation above or below average on the Autism Spectrum Quotient, were tested using observational fear conditioning (FC), a face version of the attention probe task, and the "Reading the Mind in the Eyes" test. The results indicated that high AT participants displayed enhanced observational FC, no attentional bias to fearful faces, and increased latency (but normal accuracy) to recognizing the mental state of another. To a certain extent, this pattern resembles the social-emotional phenotype that was previously described in autism spectrum disorders. Therefore, these results may contribute to the broad autism phenotype perspective. (C) 2012 Elsevier Ireland Ltd. All rights reserved. C1 [Miu, Andrei C.; Pana, Simona E.; Avram, Julia] Univ Babes Bolyai, Cognit Neurosci Lab, Dept Psychol, Cluj Napoca 400015, CJ, Romania. RP Miu, AC (reprint author), 37 Republicii St, Cluj Napoca 400015, CJ, Romania. EM andreimiu@psychology.ro RI Miu, Andrei/C-5184-2011 FU National University Research Council of Romania (CNCSIS) [411/2010]; Undergraduate Research Fellowship from Babes-Bolyai University FX This research was supported by grant 411/2010 from the National University Research Council of Romania (CNCSIS) to Andrei C. Miu, and an Undergraduate Research Fellowship from Babes-Bolyai University to Simona E. Pana. 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PD AUG 15 PY 2012 VL 198 IS 3 BP 489 EP 494 DI 10.1016/j.psychres.2012.01.024 PG 6 WC Psychiatry SC Psychiatry GA 050HQ UT WOS:000312044800025 PM 22425467 ER PT J AU Villanueva, R AF Villanueva, Rosa TI The cerebellum and neuropsychiatric disorders SO PSYCHIATRY RESEARCH LA English DT Review DE Cognitive affective syndrome; Schizophrenia; Premenstrual dysphoric disorder; Attention deficit/hyperactivity disorder; Major depression ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AMINO-ACID OXIDASE; PURKINJE-CELL LOSS; PROTEIN EXPRESSION; BIPOLAR DISORDER; ESSENTIAL TREMOR; WHITE-MATTER; SCHIZOPHRENIA; BRAIN; AUTISM AB Relative to non-human primates, in humans the cerebellum, and prefrontal cortex are brain regions which have undergone major evolutionary changes. In recent decades, progress in molecular biology and advances in the development of functional neuroimaging analysis have shown that the evolution of the human cerebellum was accompanied by the acquisition of more functions than were previously deduced from human postmortem studies and animal experimentation. These new cerebellar functions included the control of attention and other cognitive functions, emotions and mood, and social behavior, which were all thought to represent cortical functions. The importance of this new view of cerebellar physiology has been confirmed by the frequency of neuropsychiatric disorders in individuals with cerebellar abnormalities. The information collected in this review emphasizes the importance of cerebellar studies in establishing the physiological substrate of mental diseases. (C) 2012 Elsevier Ireland Ltd. All rights reserved. C1 Hosp Univ La Paz, Serv Psiquiatria, Madrid 28046, Spain. RP Villanueva, R (reprint author), Hosp Univ La Paz, Serv Psiquiatria, Paseo de la Castellana 261, Madrid 28046, Spain. 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PD AUG 15 PY 2012 VL 198 IS 3 BP 527 EP 532 DI 10.1016/j.psychres.2012.02.023 PG 6 WC Psychiatry SC Psychiatry GA 050HQ UT WOS:000312044800031 PM 22436353 ER PT J AU Weston, MC Chen, HM Swann, JW AF Weston, Matthew C. Chen, Hongmei Swann, John W. TI Multiple Roles for Mammalian Target of Rapamycin Signaling in Both Glutamatergic and GABAergic Synaptic Transmission SO JOURNAL OF NEUROSCIENCE LA English DT Article ID LHERMITTE-DUCLOS-DISEASE; TEMPORAL-LOBE EPILEPSY; LIS1 MUTANT MICE; NEUROTRANSMITTER RELEASE; MOUSE MODEL; HIPPOCAMPAL-NEURONS; TUBEROUS SCLEROSIS; GRANULE CELLS; SOMA SIZE; PTEN AB The mammalian target of rapamycin (mTOR) signaling pathway in neurons integrates a variety of extracellular signals to produce appropriate translational responses. mTOR signaling is hyperactive in neurological syndromes in both humans and mouse models that are characterized by epilepsy, autism, and cognitive disturbances. In addition, rapamycin, a clinically important immunosuppressant, is a specific and potent inhibitor of mTOR signaling. While mTOR is known to regulate growth and synaptic plasticity of glutamatergic neurons, its effects on basic parameters of synaptic transmission are less well studied, and its role in regulating GABAergic transmission is unexplored. We therefore performed an electrophysiological and morphological comparison of glutamatergic and GABAergic neurons in which mTOR signaling was either increased by loss of the repressor Pten or decreased by treatment with rapamycin. We found that hyperactive mTOR signaling increased evoked synaptic responses in both glutamatergic and GABAergic neurons by similar to 50%, due to an increase in the number of synaptic vesicles available for release, the number of synapses formed, and the miniature event size. Prolonged (72 h) rapamycin treatment prevented these abnormalities and also decreased synaptic transmission in wild-type glutamatergic, but not GABAergic, neurons. Further analyses suggested that hyperactivation of the mTOR pathway also impairs presynaptic function, possibly by interfering with vesicle fusion. Despite this presynaptic impairment, the net effect of Pten loss is enhanced synaptic transmission in both GABAergic and glutamatergic neurons, which has numerous implications, depending on where in the brain mutations of an mTOR suppressor gene occur. C1 [Weston, Matthew C.; Chen, Hongmei; Swann, John W.] Jan & Dan Duncan Neurol Res Inst, Cain Fdn Labs, Houston, TX 77030 USA. [Weston, Matthew C.; Chen, Hongmei; Swann, John W.] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA. [Weston, Matthew C.; Chen, Hongmei; Swann, John W.] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA. RP Swann, JW (reprint author), Jan & Dan Duncan Neurol Res Inst, Cain Fdn Labs, 1250 Moursund St,Suite 1225, Houston, TX 77030 USA. EM jswann@bcm.edu FU NIH-NINDS Training Grant [T32 NS043124]; [NS018309]; [NS062992]; [P30HD024064] FX This work was supported by an NIH-NINDS Training Grant T32 NS043124 (M.C.W.) and Grants NS018309, NS062992, and P30HD024064. We thank Dr. Ralf Nehring for the cre-RFP lentivirus, and Drs. Mingshan Xue and Christian Rosenmund for critical reading of this manuscript. 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Neurosci. PD AUG 15 PY 2012 VL 32 IS 33 BP 11441 EP 11452 DI 10.1523/JNEUROSCI.1283-12.2012 PG 12 WC Neurosciences SC Neurosciences & Neurology GA 994OJ UT WOS:000307940000026 PM 22895726 ER PT J AU Kosaka, H Munesue, T Ishitobi, M Asano, M Omori, M Sato, M Tomoda, A Wada, Y AF Kosaka, Hirotaka Munesue, Toshio Ishitobi, Makoto Asano, Mizuki Omori, Masao Sato, Makoto Tomoda, Akemi Wada, Yuji TI Long-term oxytocin administration improves social behaviors in a girl with autistic disorder SO BMC PSYCHIATRY LA English DT Article DE Autism spectrum disorders (ASDs); Oxytocin; Social impairments ID RECEPTOR; DEFICITS; HUMANS AB Background: Patients with autism spectrum disorders (ASDs) exhibit core autistic symptoms including social impairments from early childhood and mostly show secondary disabilities such as irritability and aggressive behavior based on core symptoms. However, there are still no radical treatments of social impairments in these patients. Oxytocin has been reported to play important roles in multiple social behaviors dependent on social recognition, and has been expected as one of the effective treatments of social impairments of patients with ASDs. Case presentation: We present a case of a 16-year-old girl with autistic disorder who treated by long-term administration of oxytocin nasal spray. Her autistic symptoms were successfully treated by two month administration; the girl's social interactions and social communication began to improve without adverse effects. Her irritability and aggressive behavior also improved dramatically with marked decreases in aberrant behavior checklist scores from 69 to 7. Conclusion: This case is the first to illustrate long-term administration of oxytocin nasal spray in the targeted treatment of social impairments in a female with autistic disorder. This case suggests that long-term nasal oxytocin spray is promising and well-tolerated for treatment of social impairments of patients with ASDs. C1 [Kosaka, Hirotaka; Sato, Makoto; Tomoda, Akemi; Wada, Yuji] Univ Fukui, Res Ctr Child Mental Dev, Fukui 9101193, Japan. [Kosaka, Hirotaka; Ishitobi, Makoto; Asano, Mizuki; Wada, Yuji] Univ Fukui, Dept Neuropsychiat, Fac Med Sci, Fukui 9101193, Japan. [Munesue, Toshio] Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa 9208641, Japan. [Omori, Masao] Fukui Prefectural Univ, Fac Nursing & Social Welf Sci, Fukui 9101195, Japan. [Sato, Makoto] Univ Fukui, Fac Med Sci, Div Cell Biol & Neurosci, Dept Morphol & Physiol Sci, Fukui 9101193, Japan. RP Kosaka, H (reprint author), Univ Fukui, Res Ctr Child Mental Dev, Fukui 9101193, Japan. EM hirotaka@u-fukui.ac.jp FU Japan Society for the Promotion of Science [21791120]; Japan Research Foundation For Clinical Pharmacology; SENSHIN Medical Research Foundation FX This case report was funded in part by Grants-in-Aid for Scientific Research from the Japan Society for the Promotion of Science (21791120) and by the Kobayashi-Magobei Kinen Fund, Japan Research Foundation For Clinical Pharmacology and SENSHIN Medical Research Foundation. Part of this case report is the result of "Integrated research on neuropsychiatric disorders" carried out under the Strategic Research Program for Brain Sciences by the MEXT of Japan. 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However, the neural correlates of this dysfunction remain unidentified. Because this dysfunction is manifested in real-life situations, we hypothesized that the observation of dynamic, compared with static, facial expressions would reveal abnormal brain functioning in individuals with ASD. We presented dynamic and static facial expressions of fear and happiness to individuals with high-functioning ASD and to age- and sex-matched typically developing controls and recorded their brain activities using functional magnetic resonance imaging (fMRI). Result: Regional analysis revealed reduced activation of several brain regions in the ASD group compared with controls in response to dynamic versus static facial expressions, including the middle temporal gyrus (MTG), fusiform gyrus, amygdala, medial prefrontal cortex, and inferior frontal gyrus (IFG). Dynamic causal modeling analyses revealed that bi-directional effective connectivity involving the primary visual cortex-MTG-IFG circuit was enhanced in response to dynamic as compared with static facial expressions in the control group. Group comparisons revealed that all these modulatory effects were weaker in the ASD group than in the control group. Conclusions: These results suggest that weak activity and connectivity of the social brain network underlie the impairment in social interaction involving dynamic facial expressions in individuals with ASD. C1 [Sato, Wataru; Kochiyama, Takanori] Kyoto Univ, Primate Res Inst, Hakubi Project, Inuyama, Aichi 4848506, Japan. [Sato, Wataru; Toichi, Motomi] Org Promoting Dev Disorder Res, Sakyo Ku, Kyoto 6068392, Japan. [Toichi, Motomi; Uono, Shota] Kyoto Univ, Grad Sch Med, Fac Human Hlth Sci, Sakyo Ku, Kyoto 6068507, Japan. RP Sato, W (reprint author), Kyoto Univ, Primate Res Inst, Hakubi Project, Inuyama, Aichi 4848506, Japan. EM sato@pri.kyoto-u.ac.jp FU Benesse Corporation; JSPS; JSPS Funding Program for Next Generation World-Leading Researchers; Organization for Promoting Developmental Disorder Research FX We thank Professor S. Yoshikawa for her helpful advice and ATR Brain Activity Imaging Center for their supports of acquiring fMRI data. This study was supported by funds from the Benesse Corporation, JSPS Grants-in-Aid for Scientific Research, JSPS Funding Program for Next Generation World-Leading Researchers, and the Organization for Promoting Developmental Disorder Research. 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PD AUG 13 PY 2012 VL 13 AR 99 DI 10.1186/1471-2202-13-99 PG 17 WC Neurosciences SC Neurosciences & Neurology GA 014TA UT WOS:000309397400001 PM 22889284 ER PT J AU Heinzen, EL Depondt, C Cavalleri, GL Ruzzo, EK Walley, NM Need, AC Ge, DL He, M Cirulli, ET Zhao, Q Cronin, KD Gumbs, CE Campbell, CR Hong, LK Maia, JM Shianna, KV McCormack, M Radtke, RA O'Conner, GD Mikati, MA Gallentine, WB Husain, AM Sinha, SR Chinthapalli, K Puranam, RS McNamara, JO Ottman, R Sisodiya, SM Delanty, N Goldstein, DB AF Heinzen, Erin L. Depondt, Chantal Cavalleri, Gianpiero L. Ruzzo, Elizabeth K. Walley, Nicole M. Need, Anna C. Ge, Dongliang He, Min Cirulli, Elizabeth T. Zhao, Qian Cronin, Kenneth D. Gumbs, Curtis E. Campbell, C. Ryan Hong, Linda K. Maia, Jessica M. Shianna, Kevin V. McCormack, Mark Radtke, Rodney A. O'Conner, Gerard D. Mikati, Mohamad A. Gallentine, William B. Husain, Aatif M. Sinha, Saurabh R. Chinthapalli, Krishna Puranam, Ram S. McNamara, James O. Ottman, Ruth Sisodiya, Sanjay M. Delanty, Norman Goldstein, David B. TI Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID GENOME-WIDE ASSOCIATION; RECURRENT MICRODELETIONS; 16P13.11 PREDISPOSE; SPECTRUM; AUTISM; GENES; RISK AB Idiopathic generalized epilepsy (ICE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and frequencies below what are reliably detected with genome-wide association studies contribute significantly to disease risk. In this study, we compare the exome sequences of 118 individuals with IGE and 242 controls of European ancestry by using next-generation sequencing. The exome-sequenced epilepsy cases include study subjects with two forms of IGE, including juvenile myoclonic epilepsy (n = 93) and absence epilepsy (n = 25). However, our discovery strategy did not assume common genetic control between the subtypes of IGE considered. In the sequence data, as expected, no variants were significantly associated with the IGE phenotype or more specific IGE diagnoses. We then selected 3,897 candidate epilepsy-susceptibility variants from the sequence data and genotyped them in a larger set of 878 individuals with IGE and 1,830 controls. Again, no variant achieved statistical significance. However, 1,935 variants were observed exclusively in cases either as heterozygous or homozygous genotypes. It is likely that this set of variants includes real risk factors. The lack of significant association evidence of single variants with disease in this two-stage approach emphasizes the high genetic heterogeneity of epilepsy disorders, suggests that the impact of any individual single-nucleotide variant in this disease is small, and indicates that gene-based approaches might be more successful for future sequencing studies of epilepsy predisposition. C1 [Heinzen, Erin L.; Ruzzo, Elizabeth K.; Walley, Nicole M.; Need, Anna C.; Ge, Dongliang; He, Min; Cirulli, Elizabeth T.; Zhao, Qian; Cronin, Kenneth D.; Gumbs, Curtis E.; Campbell, C. Ryan; Hong, Linda K.; Maia, Jessica M.; Shianna, Kevin V.; Goldstein, David B.] Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA. [Heinzen, Erin L.; Need, Anna C.; Ge, Dongliang; Shianna, Kevin V.] Duke Univ, Sch Med, Dept Med, Med Genet Sect, Durham, NC 27708 USA. [Depondt, Chantal] Univ Libre Brussels, Hop Erasme, Dept Neurol, B-1070 Brussels, Belgium. [Cavalleri, Gianpiero L.; McCormack, Mark; Delanty, Norman] Royal Coll Surgeons Ireland, Dublin 2, Ireland. [Radtke, Rodney A.; Husain, Aatif M.; Sinha, Saurabh R.] Duke Univ, Sch Med, Div Neurol, Dept Med, Durham, NC 27710 USA. [O'Conner, Gerard D.; Delanty, Norman] Beaumont Hosp, Div Neurol, Dublin 9, Ireland. [Mikati, Mohamad A.; Gallentine, William B.] Duke Univ, Sch Med, Dept Pediat, Div Pediat Neurol, Durham, NC 27710 USA. [Chinthapalli, Krishna; Sisodiya, Sanjay M.] UCL, Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England. [Puranam, Ram S.; McNamara, James O.] Duke Univ, Dept Neurobiol, Durham, NC 27710 USA. [Ottman, Ruth] Columbia Univ, Sergievsky Ctr, New York, NY 10032 USA. [Ottman, Ruth] Columbia Univ, Dept Neurol, New York, NY 10032 USA. [Ottman, Ruth] Columbia Univ, Dept Epidemiol, New York, NY 10032 USA. [Ottman, Ruth] New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USA. [Goldstein, David B.] Duke Univ, Dept Mol Genet & Microbiol, Durham, NC 27708 USA. RP Heinzen, EL (reprint author), Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA. EM e.heinzen@duke.edu; d.goldstein@duke.edu RI Cavalleri, Gianpiero/A-6632-2010; Ottman, Ruth/O-2371-2013 FU National Institute of Neurological Disorders and Stroke [RC2NS070344]; National Institute of Mental Health [RC2MH089915]; National Institute of Allergy and Infectious Diseases [UO1AIO67854, 1RC2NS070342]; Ellison Medical Foundation; National Institute on Aging [P30 AG028377]; Wellcome Trust [084730]; National Institute for Health Research [08-08-SCC]; Fonds National de la Recherche Scientifique; Fondation Erasme; Universite Libre de Bruxelles; Fondation Erasme, Universite Libre de Bruxelles, Brainwave-The Irish Epilepsy Association/the Medical Research Charities Group of Ireland/Health Research Board [2009/001]; Programme for Human Genomics; Programme for Research in Third Level Institutions (PRTLI3); Irish Higher Education Authority; Health Research Board of Ireland's Translational Research Scholars award FX We thank all the individuals who kindly participated, as well as the physicians who recruited them. We also acknowledge all of the collaborators and groups who contributed controls for ascertaining the frequency of candidate variants in the population; these collaborators include the Murdock Study Community Registry and Biorepository (R. Murdock), D. Daskalakis, D. Attix, V. Dixon, O. Chiba-Falek, J. McEvoy, V. Shashi, R. Brown, A. Holden, E. Behr, W. Lowe, P. Lugar, J. Milner, K. Welsh-Bohmer, C. Hulette, J. Burke, D. Valle, J. Hoover-Fong, N. Sobriera, D. Marchuk, S. Palmer, E. Pras, D. Lancet, and Z. Farfel. This project was funded by the National Institute of Neurological Disorders and Stroke (RC2NS070344), the National Institute of Mental Health (RC2MH089915), the National Institute of Allergy and Infectious Diseases (UO1AIO67854, 1RC2NS070342), the Ellison Medical Foundation (O. Chiba-Falek), the National Institute on Aging (P30 AG028377), the Wellcome Trust (084730), the National Institute for Health Research (grant 08-08-SCC), the Fonds National de la Recherche Scientifique, the Fondation Erasme, Universite Libre de Bruxelles, Brainwave-The Irish Epilepsy Association/the Medical Research Charities Group of Ireland/Health Research Board award 2009/001, and the Programme for Human Genomics and the Programme for Research in Third Level Institutions (PRTLI3) funded by the Irish Higher Education Authority. M.M.C. was supported by a Health Research Board of Ireland's Translational Research Scholars award. 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In the current study we studied the function of Cyfip1 in synaptic physiology and behavior, using mice with a disruption of the Cyfip1 gene. Methodology/Principal Findings: We observed that in Cyfip1 heterozygous mice metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD) induced by paired-pulse low frequency stimulation (PP-LFS) was significantly increased in comparison to wildtype mice. In addition, mGluR-LTD was not affected in the presence of protein synthesis inhibitor in the Cyfip1 heterozygous mice, while the same treatment inhibited LTD in wildtype littermate controls. mGluR-agonist (RS)-3,5-dihydroxyphenylglycine (DHPG)-induced LTD was also significantly increased in hippocampal slices from Cyfip1 heterozygous mice and again showed independence from protein synthesis only in the heterozygous animals. Furthermore, we observed that the mammalian Target of Rapamycin (mTOR) inhibitor rapamycin was only effective at reducing mGluR-LTD in wildtype animals. Behaviorally, Cyfip1 heterozygous mice showed enhanced extinction of inhibitory avoidance. Application of both mGluR5 and mGluR1 antagonist to slices from Cyfip1 heterozygous mice reversed the increase in DHPG-induced LTD in these mice. Conclusions/Significance: These results demonstrate that haploinsufficiency of Cyfip1 mimics key aspects of the phenotype of Fmr1 knockout mice and are consistent with the hypothesis that these effects are mediated by interaction of Cyfip1 and Fmrp in regulating activity-dependent translation. The data provide support for a model where CYFIP1 haploinsufficiency in patients results in intermediate phenotypes increasing risk for neuropsychiatric disorders. C1 [Bozdagi, Ozlem; Sakurai, Takeshi; Dorr, Nathan; Pilorge, Marion; Takahashi, Nagahide; Buxbaum, Joseph D.] Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA. [Bozdagi, Ozlem; Sakurai, Takeshi; Dorr, Nathan; Pilorge, Marion; Takahashi, Nagahide; Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Psychiat, New York, NY USA. [Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Neurosci, New York, NY USA. [Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA. RP Bozdagi, O (reprint author), Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA. EM joseph.buxbaum@mssm.edu FU Seaver Foundation FX This work was supported by the Seaver Foundation. OB and TS are Seaver Fellows. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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To this end, the occurrence of social deficits and mitochondrial outcomes were evaluated in conditional Pten (Phosphatase and tensin homolog) haplo-insufficient mice, in which only one allele was selectively knocked-out in neural tissues. Pten mutations have been linked to Alzheimer's disease and syndromic autism spectrum disorders, among others. By 4-6 weeks of age, Pten insufficiency resulted in the increase of several mitochondrial Complex activities (II-III, IV and V) not accompanied by increases in mitochondrial mass, consistent with an activation of the PI3K/Akt pathway, of which Pten is a negative modulator. At 8-13 weeks of age, Pten haplo-insufficient mice did not show significant behavioral abnormalities or changes in mitochondrial outcomes, but by 20-29 weeks, they displayed aberrant social behavior (social avoidance, failure to recognize familiar mouse, and repetitive self-grooming), macrocephaly, increased oxidative stress, decreased cytochrome c oxidase (CCO) activity (50%) and increased mtDNA deletions in cerebellum and hippocampus. Mitochondrial dysfunction was the result of a downregulation of p53-signaling pathway evaluated by lower protein expression of p21 (65% of controls) and the CCO chaperone SCO2 (47% of controls), two p53-downstream targets. This mechanism was confirmed in Pten-deficient striatal neurons and, HCT 116 cells with different p53 gene dosage. These results suggest a unique pathogenic mechanism of the Pten-p53 axis in mice with aberrant social behavior: loss of Pten (via p53) impairs mitochondrial function elicited by an early defective assembly of CCO and later enhanced by the accumulation of mtDNA deletions. Consistent with our results, (i) SCO2 deficiency and/or CCO activity defects have been reported in patients with learning disabilities including autism and (ii) mutated proteins in ASD have been found associated with p53-signaling pathways. C1 [Napoli, Eleonora; Ross-Inta, Catherine; Wong, Sarah; Hung, Connie; Fujisawa, Yasuko; Sakaguchi, Danielle; Angelastro, James; Omanska-Klusek, Alicja; Schoenfeld, Robert; Giulivi, Cecilia] Univ Calif Davis, Dept Mol Biosci, Sch Vet Med, Davis, CA 95616 USA. [Giulivi, Cecilia] Univ Calif Davis, Med Invest Neurodev Disorders Inst, Sch Med, Davis, CA 95616 USA. RP Napoli, E (reprint author), Univ Calif Davis, Dept Mol Biosci, Sch Vet Med, Davis, CA 95616 USA. EM cgiulivi@ucdavis.edu FU Autism Speaks Foundation [58739]; MIND Institute; Elsa U. Pardee Foundation; National Institute of Environmental Health Sciences [NIEHS R01-ES012691, NIEHS R01-ES020392] FX This work was supported by funds provided by Autism Speaks Foundation (#58739); and, partially, by the MIND Institute, Elsa U. Pardee Foundation and National Institute of Environmental Health Sciences (NIEHS R01-ES012691 & NIEHS R01-ES020392). The funding agencies had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Med. J. PD AUG 9 PY 2012 VL 345 AR e5420 DI 10.1136/bmj.e5420 PG 1 WC Medicine, General & Internal SC General & Internal Medicine GA 988NF UT WOS:000307497000004 PM 22879643 ER PT J AU Shamberger, R AF Shamberger, Raymond TI Attention-Deficit Disorder Associated with Breast-Feeding: A Brief Report SO JOURNAL OF THE AMERICAN COLLEGE OF NUTRITION LA English DT Article DE attention-deficit/hyperactivity disorder (ADHD); breast-feeding; docosahexaenoic acid (DHA); premature birth; low birth weight babies; very low birth weight babies ID DEFICIT/HYPERACTIVITY DISORDER; CHILDREN AB Background: Attention-deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders that develop in children. In the United States and Canada, the prevalence is about 6%. The causes of ADHD are not known. ADHD, like autism, occurs mainly in boys aged 3-6, and there are some thoughts that both diseases may have a common mechanism. Methods: This study uses nutritional epidemiology linked to exclusive 6-month breast-feeding. The Centers for Disease Control and Prevention (CDC) has reported in 2003 and 2007 extensive studies on ADHD involving several million children in 50 states. The prevalence of ADHD in each state in 2003 or 2007 was compared to the average of exclusive 6-month breast-feeding from 2001 to 2004 or 3-month exclusive breast-feeding in 2007 in each of the 50 states. Several parameters, such as premature births, low birth weight, and very low birth weight, that had previously associated with ADHD were compared to ADHD incidence. Other parameters such as obesity, infant death rate, neonatal death rate, poverty, per capita income, and the percentage of individuals enrolled in the U.S. WIC (Women, Infants, and Children) program were also compared to ADHD incidence. Results: A highly significant inverse relationship of ADHD to exclusive 6-month and 3-month breast-feeding in 2007 was observed. 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PD AUG PY 2012 VL 31 IS 4 BP 239 EP 242 PG 4 WC Nutrition & Dietetics SC Nutrition & Dietetics GA 120BM UT WOS:000317144500002 PM 23378451 ER PT J AU Kover, ST McDuffie, A Abbeduto, L Brown, WT AF Kover, Sara T. McDuffie, Andrea Abbeduto, Leonard Brown, W. Ted TI Effects of Sampling Context on Spontaneous Expressive Language in Males With Fragile X Syndrome or Down Syndrome SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH LA English DT Article DE language sampling; conversation; narrative; fragile X syndrome; mean length of utterance (MLU) ID AUTISM SPECTRUM DISORDERS; WITHIN-SYNDROME DIFFERENCES; BEHAVIORAL-PHENOTYPE; GENETIC SYNDROMES; YOUNG-CHILDREN; ADOLESCENTS; SPEECH; BOYS; CONVERSATION; IMPAIRMENT AB Purpose: In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. Method: Participants with fragile X syndrome (n = 27), ages 10-17 years, were matched groupwise on nonverbal mental age to adolescents with Down syndrome (n = 15) and typically developing 3- to 6-year-olds (n = 15). Language sampling contexts were an interview-style conversation and narration of a wordless book, with scripted examiner behavior. Language was assessed in terms of amount of talk, mean length of communication unit (MLCU), lexical diversity, fluency, and intelligibility. Results: Participants with fragile X syndrome had lower MLCU and lexical diversity than did participants with typical development. Participants with Down syndrome produced yet lower MLCU. A differential effect of context among those with fragile X syndrome, Down syndrome, and typical development emerged for the number of attempts per minute, MLCU, and fluency. For participants with fragile X syndrome, autism symptom severity related to the number of utterances produced in conversation. Aspects of examiner behavior related to participant performance. Conclusion: Sampling context characteristics should be considered when assessing expressive language in individuals with neurodevelopmental disabilities. C1 [Kover, Sara T.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA. [McDuffie, Andrea; Abbeduto, Leonard] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA. [Brown, W. Ted] New York State Inst Basic Res Dev Disabil, Staten Isl, NY USA. RP Kover, ST (reprint author), Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA. EM kover@wisc.edu FU National Institutes of Health (NIH) [R01 HD024356, P30 HD003352]; Waisman Center; Michael Vincent and Harriet Frisbie Eastabrooks O'Shea Fellowship; NIH [F31 DC010959] FX This work was supported by National Institutes of Health (NIH) Grants R01 HD024356 and P30 HD003352, as well as three fellowships awarded to the first author: the Waisman Center's Anderson Hoffman Wisconsin Distinguished Graduate Fellowship, the Michael Vincent and Harriet Frisbie Eastabrooks O'Shea Fellowship, and NIH F31 DC010959 National Research Service Award Individual Predoctoral Fellowship. Portions of these data were presented at the 43rd Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities in Annapolis, Maryland. We offer our sincere appreciation to all of the families who participated in this research. 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Arciuli, Joanne TI Training Production of Lexical Stress in Typically Developing Children Using Orthographically Biased Stimuli and Principles of Motor Learning SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY LA English DT Article DE prosody; lexical stress; stress assignment; speech production; learning ID AUTISM SPECTRUM DISORDERS; CHILDHOOD APRAXIA; WORD RECOGNITION; SPEECH; PROSODY; SPEAKERS; ENGLISH; ACCOUNT AB Purpose: Impaired lexical stress production characterizes multiple pediatric speech disorders. Effective remediation strategies are not available, and little is known about the normal process of learning to assign and produce lexical stress. This study examined whether typically developing (TD) children can be trained to produce lexical stress on bisyllabic pseudowords that are orthographically biased to a strong-weak or weak-strong pattern (e. g., MAMbey or beDOON), in combination with the principles of motor learning (PML). Method: Fourteen TD children ages 5; 0 (years; months) to 13; 0 were randomly assigned to a training or control group using concealed allocation within blocks. A pre- to post-training group design was used to examine the acquisition, retention, and generalization of lexical stress production. Results: The training group learned to produce appropriate lexical stress for the pseudowords with strong maintenance and generalization to related untrained stimuli. Accuracy of stress production did not change in the control group. Conclusion: TD children can learn to produce lexical stress patterns for orthographically biased pseudowords via explicit training methods. Findings have relevance for the study of languages other than English and for a range of prosodic disorders. C1 [van Rees, Lauren J.; Ballard, Kirrie J.; McCabe, Patricia; Macdonald-D'Silva, Anita G.; Arciuli, Joanne] Univ Sydney, Sydney, NSW 2006, Australia. 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PD AUG 1 PY 2012 VL 21 IS 3 BP 197 EP 206 DI 10.1044/1058-0360(2012/11-0008) PG 10 WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation GA 083JV UT WOS:000314460400003 PM 22411774 ER PT J AU Latham, KE Sapienza, C Engel, N AF Latham, Keith E. Sapienza, Carmen Engel, Nora TI The epigenetic lorax: gene-environment interactions in human health SO EPIGENOMICS LA English DT Review DE aging; behavior; DNA methylation; endocrine disruptors; maternal diet; windows of sensitivity ID MAMMARY-GLAND DEVELOPMENT; IN-UTERO EXPOSURE; BISPHENOL-A BPA; BODY-MASS INDEX; LONG-EVANS RATS; ENDOCRINE-DISRUPTING COMPOUNDS; STEM-CELL DIFFERENTIATION; GENOME-WIDE ASSOCIATION; FEMALE WISTAR RATS; LOW-PROTEIN DIET AB Over the last decade, we have witnessed an explosion of information on genetic factors underlying common human diseases and disorders. This 'human genomics' information revolution has occurred as a backdrop to a rapid increase in the rates of many human disorders and diseases. For example, obesity, Type 2 diabetes, asthma, autism spectrum disorder and attention deficit hyperactivity disorder have increased at rates that cannot be due to changes in the genetic structure of the population, and are difficult to ascribe to changes in diagnostic criteria or ascertainment. A likely cause of the increased incidence of these disorders is increased exposure to environmental factors that modify gene function. Many environmental factors that have epidemiological association with common human disorders are likely to exert their effects through epigenetic alterations. This general mechanism of gene-environment interaction poses special challenges for individuals, educators, scientists and public policy makers in defining, monitoring and mitigating exposures. C1 [Latham, Keith E.; Sapienza, Carmen; Engel, Nora] Temple Univ, Sch Med, Fels Inst Canc Res & Mol Biol, Philadelphia, PA 19140 USA. [Latham, Keith E.; Engel, Nora] Temple Univ, Sch Med, Dept Biochem, Philadelphia, PA 19140 USA. [Sapienza, Carmen] Temple Univ, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19140 USA. RP Latham, KE (reprint author), Temple Univ, Sch Med, Fels Inst Canc Res & Mol Biol, 3400 N Broad St, Philadelphia, PA 19140 USA. EM klatham@temple.edu FU NIH National Institute of Child Health and Development [HD43092]; NIH Office of the Director, Comparative Medicine Branch, Office of Research Infrastructure Program [R24OD012221-12, U54HD068157, RO1GM093066, K22CA140361-3] FX Research in the authors' laboratories is supported in part by grants from the NIH National Institute of Child Health and Development (HD43092; KE Latham), the NIH Office of the Director, Comparative Medicine Branch, Office of Research Infrastructure Program, R24OD012221-12 (KE Latham), U54HD068157 (C Sapienza), and RO1GM093066 and K22CA140361-3 (N Engel). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. 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Pondiki, S. Oddi, D. Di Certo, M. G. Marinelli, S. Troisi, A. Moles, A. D'Amato, F. R. TI Modeling socially anhedonic syndromes: genetic and pharmacological manipulation of opioid neurotransmission in mice SO TRANSLATIONAL PSYCHIATRY LA English DT Article DE affiliation; animal model; attachment behavior; naltrexone; ultrasonic vocalizations; mu-KO mice ID INBRED MOUSE STRAINS; RECEPTOR GENE; SEPARATION DISTRESS; ATTACHMENT BEHAVIOR; SPECTRUM DISORDERS; ENDOGENOUS OPIOIDS; HEALTHY-VOLUNTEERS; ODOR PREFERENCE; INFANT RATS; OPRM1 AB Social anhedonia, or the diminished capacity to experience pleasure and reward from social affiliation, is a major symptom of different psychiatric disorders, including some forms of infantile autism and schizophrenia spectrum disorders. The brain opioid hypothesis of social attachment is a promising model for achieving insights into how neurobiological and developmental factors contribute to the regulation of social reward. In this study, genetic knocking-out and naltrexone (NTRX) treatment during the first 4 days of life were used to disrupt opioid neurotransmission in mouse pups and their attachment relationships with the mother. Both permanent (genetic) and transient (pharmacological) manipulations of opioid neurotransmission exerted long-term effects on social affiliation. When juveniles, both mu-opioid receptor knockout mice and NTRX-treated pups showed reduced interest in peers and no preference for socially rewarding environment. These results demonstrate that sociability in juvenile mice is highly dependent on the establishment during infancy of a positive affective relationship with their mothers and that opioid neurotransmission has a major role in the regulation of social hedonic capacity. If the validity of this animal model will be confirmed by future research, translational studies focusing on the interaction between early experience and opioid neurotransmission could provide useful insights for identifying endophenotypes of human psychiatric disorders associated with social anhedonia. Translational Psychiatry (2012) 2, e155; doi:10.1038/tp.2012.83; published online 28 August 2012 C1 [Cinque, C.; Pondiki, S.; Oddi, D.; Di Certo, M. G.; Marinelli, S.; Moles, A.; D'Amato, F. R.] CNR, Cell Biol & Neurobiol Inst, I-00143 Rome, Italy. [Cinque, C.; Pondiki, S.; Oddi, D.; Di Certo, M. G.; Marinelli, S.; Moles, A.; D'Amato, F. R.] IRCCS Santa Lucia Fdn, Rome, Italy. [Troisi, A.] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy. [Moles, A.] Genomnia, Linate, Italy. RP D'Amato, FR (reprint author), CNR, Cell Biol & Neurobiol Inst, Via Fosso Fiorano 64-65, I-00143 Rome, Italy. EM francesca.damato@cnr.it FU Telethon, Italy [GGP05220]; Regione Lazio for 'Sviluppo della Ricerca sul Cervello' FX Thanks to Brigitte L Kieffer for comments on the manuscript, scientific support and providing animals. This study has been granted by Telethon, Italy (Grant no. GGP05220) and also partially supported by funds from Regione Lazio for 'Sviluppo della Ricerca sul Cervello'. 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Psychiatr. PD AUG PY 2012 VL 2 AR e155 DI 10.1038/tp.2012.83 PG 7 WC Psychiatry SC Psychiatry GA 062DL UT WOS:000312899200010 PM 22929597 ER PT J AU Pankhurst, MW McLennan, IS AF Pankhurst, M. W. McLennan, I. S. TI Inhibin B and anti-Mullerian hormone/Mullerian-inhibiting substance may contribute to the male bias in autism SO TRANSLATIONAL PSYCHIATRY LA English DT Article DE boys; congential disorders; Sertoli cell hormones; sex bias; testes; TGF beta superfamily ID PERVASIVE DEVELOPMENTAL DISORDERS; CHROMATOGRAPHY-MASS-SPECTROMETRY; SPECTRUM DISORDERS; RAT-BRAIN; IN-VITRO; HORMONE; ACTIVIN; SERUM; TESTOSTERONE; RECEPTOR AB The autistic spectrum disorders have a significant male bias in incidence, which is unexplained. The Sertoli cells of the immature testes secrete supra-adult levels of Mullerian-inhibiting/substance/antin-Mullerian hormone (AMH) and inhibin B (InhB), with both hormones being putative regulators of brain development. We report here, that 82 boys with an autism spectrum disorder have normal levels of InhB and AMH. However, the boys' level of InhB correlated with their autism diagnostic interview-revised (ADI-R) scores for the social interaction (R = 0.29, P = 0.009, N 82) and communication domains (R = 0.29, P = 0.022, N = 63), and with the number of autistic traits the boys exhibited (R = 0.34 and 0.27, respectively). The strengths of the abovementioned correlates were stronger in the boys with milder autism (R = 0.42 and 0.50, respectively), with AMH exhibiting a significant negative correlation to the ADI-R score in these boys (R = -0.44 and R = -0.39, respectively). Neither hormone correlated to the incidence of stereotyped and repetitive behaviours. This suggests that the male bias in the autistic spectrum has multiple determinants, which modulate the effects of an otherwise non-dimorphic pathology. 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We gratefully acknowledge the resources provided by the AGRE consortium and the participating AGRE families. The AGRE is a programme of Autism Speaks and is supported, in part, by grant 1U24MH081810 from the National Institute of Mental Health to CM Lajonchere (PI). 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ASDs have increased in prevalence, leading to a demand for improved understanding of the comparative effectiveness of different pharmacologic, behavioral, medical and alternative treatments for children as well as systems for providing services. This review describes outcome instruments that can be used for clinical, health services and cost effectiveness applications. There is a pressing need to identify the most appropriate instruments for measuring health-related quality-of-life outcomes in this population. Studies evaluating the cost effectiveness of interventions or treatments for children with ASDs using the cost per quality-adjusted life year metric are lacking. Researchers have the potential to contribute greatly to the field of autism by quantifying outcomes that can inform optimal treatment strategies. C1 [Payakachat, Nalin; Tilford, J. Mick] Univ Arkansas Med Sci, Div Pharmaceut Evaluat & Policy, Little Rock, AR 72205 USA. [Tilford, J. Mick] Univ Arkansas Med Sci, Dept Hlth Policy & Management, Little Rock, AR 72205 USA. [Kovacs, Erica] Columbia Univ, Dept Psychiat, New York, NY USA. [Kuhlthau, Karen] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA. [Kuhlthau, Karen] Massachusetts Gen Hosp, Ctr Adolescent Hlth Policy, Boston, MA 02114 USA. RP Payakachat, N (reprint author), Univ Arkansas Med Sci, Div Pharmaceut Evaluat & Policy, Little Rock, AR 72205 USA. EM npayakachat@uams.edu FU National Institute of Mental Health [R01MH089466]; NIH through the Translational Research Institute at the University of Arkansas for Medical Sciences [1UL1RR029884] FX This project was supported by award number R01MH089466 from the National Institute of Mental Health with K Kuhlthau and JM Tilford serving as Principal Investigators. JM Tilford also received support from the NIH (Grant # 1UL1RR029884) through the Translational Research Institute at the University of Arkansas for Medical Sciences. The content of this article is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Mental Health or the NIH. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. 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PD AUG PY 2012 VL 12 IS 4 BP 485 EP 503 DI 10.1586/ERP.12.29 PG 19 WC Health Care Sciences & Services; Health Policy & Services; Pharmacology & Pharmacy SC Health Care Sciences & Services; Pharmacology & Pharmacy GA 030GO UT WOS:000310559200018 PM 22971035 ER PT J AU Rana, SA Aavani, T Pittman, QJ AF Rana, Shadna A. Aavani, Tooka Pittman, Quentin J. TI Sex effects on neurodevelopmental outcomes of innate immune activation during prenatal and neonatal life SO HORMONES AND BEHAVIOR LA English DT Review DE Innate immune activation; Sex steroids; LPS; Poly(I:C); Development ID CORTICOTROPIN-RELEASING HORMONE; PITUITARY-ADRENAL AXIS; CENTRAL-NERVOUS-SYSTEM; LONG-TERM ALTERATIONS; TOLL-LIKE RECEPTORS; ADULT-RAT BRAIN; ENDOTOXIN EXPOSURE; NEUROIMMUNE RESPONSES; PREPULSE INHIBITION; FETAL-BRAIN AB This article is part of a Special Issue "Neuroendocrine-Immune Axis in Health and Disease." Humans are exposed to potentially harmful agents (bacteria, viruses, toxins) throughout our lifespan; the consequences of such exposure can alter central nervous system development. Exposure to immunogens during pregnancy increases the risk of developing neurological disorders such as schizophrenia and autism. Further, sex hormones, such as estrogen, have strong modulatory effects on immune function and have also been implicated in the development of neuropathologies (e.g.. schizophrenia and depression). Similarly, animal studies have demonstrated that immunogen exposure in utero or during the neonatal period, at a time when the brain is undergoing maturation, can induce changes in learning and memory, as well as dopamine-mediated behaviors in a sex-specific manner. Literature that covers the effects of immunogens on innate immune activation and ultimately the development of the adult brain and behavior is riddled with contradictory findings, and the addition of sex as a factor only adds to the complexity. This review provides evidence that innate immune activation during critical periods of development may have effects on the adult brain in a sex-specific manner. Issues regarding sex bias in research as well as variability in animal models of immune function are discussed. (C) 2012 Elsevier Inc. All rights reserved. C1 [Rana, Shadna A.; Aavani, Tooka; Pittman, Quentin J.] Univ Calgary, Fac Med, Dept Physiol & Pharmacol, Hotchkiss Brain Inst,Hlth Sci Ctr, Calgary, AB T2N 4N1, Canada. RP Pittman, QJ (reprint author), Univ Calgary, Fac Med, Dept Physiol & Pharmacol, Hotchkiss Brain Inst,Hlth Sci Ctr, 3330 Hosp Dr NW, Calgary, AB T2N 4N1, Canada. EM pittman@ucalgary.ca FU Canadian Institutes of Health Research; Alberta Heritage Foundation for Medical Research (AHFMR); Hotchkiss Brain Institute-AHFMR Provincial Program on Perinatal Determinants of Brain and Mental Health FX This work was supported by the Canadian Institutes of Health Research and by personnel support grants to SAR and QJP from Alberta Heritage Foundation for Medical Research (AHFMR) and to TA from the Hotchkiss Brain Institute-AHFMR Provincial Program on Perinatal Determinants of Brain and Mental Health. 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Behav. PD AUG PY 2012 VL 62 IS 3 BP 228 EP 236 DI 10.1016/j.yhbeh.2012.03.015 PG 9 WC Behavioral Sciences; Endocrinology & Metabolism SC Behavioral Sciences; Endocrinology & Metabolism GA 022GR UT WOS:000309946300006 PM 22516179 ER PT J AU Schwarz, JM Bilbo, SD AF Schwarz, Jaclyn M. Bilbo, Staci D. TI Sex, glia, and development: Interactions in health and disease SO HORMONES AND BEHAVIOR LA English DT Review DE Microglia; Astrocytes; Hippocampus; Amygdala; Hypothalamus; Mental health; Sex ID EARLY-LIFE INFECTION; CORTICOTROPIN-RELEASING HORMONE; MICROGLIAL CELL ACTIVATION; ESTROGEN-RECEPTOR-BETA; NECROSIS-FACTOR-ALPHA; NEURAL STEM-CELLS; IMMUNE-RESPONSES; ASTROCYTE DIFFERENTIATION; AUTOIMMUNE-DISEASES; SICKNESS BEHAVIOR AB This article is part of a Special Issue "Neuroendocrine-Immune Axis in Health and Disease." Microglia and astrocytes are the primary immune cells within the central nervous system. Microglia influence processes including neural development, synaptic plasticity and cognition; while their activation and production of immune molecules can induce stereotyped sickness behaviors or pathologies including cognitive dysfunction. Given their role in health and disease, we propose that glia may also be a critical link in understanding the etiology of many neuropsychiatric disorders that present with a strong sex-bias in their symptoms or prevalence. Specifically, males are more likely to be diagnosed with disorders that have distinct developmental origins such as autism or schizophrenia. In contrast, females are more likely to be diagnosed with disorders that present later in life, after the onset of adolescence, such as depression and anxiety disorders. In this review we will summarize the evidence suggesting that sex differences in the colonization and function of glia within the normal developing brain may contribute to distinct windows of vulnerability between males and females. We will also highlight the current gaps in our knowledge as well as the future directions and considerations of research aimed at understanding the link between neuroimmune function and sex differences in mental health disorders. (C) 2012 Elsevier Inc. All rights reserved. C1 [Schwarz, Jaclyn M.; Bilbo, Staci D.] Duke Univ, Dept Psychol & Neurosci, Durham, NC 27705 USA. RP Schwarz, JM (reprint author), Duke Univ, Dept Psychol & Neurosci, 572 Res Dr Rm 3017, Durham, NC 27705 USA. 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The aim of the present study was to assess the feasibility of using facial electromyography (EMG) as a method to study facial mimicry responses in younger children aged 6-7 years to emotional facial expressions of other children. Facial EMG activity to the presentation of dynamic emotional faces was recorded from the corrugator, zygomaticus, frontalis and depressor muscle in sixty-one healthy participants aged 6-7 years. Results showed that the presentation of angry faces was associated with corrugator activation and zygomaticus relaxation, happy faces with an increase in zygomaticus and a decrease in corrugator activation, fearful faces with frontalis activation, and sad faces with a combination of corrugator and frontalis activation. This study demonstrates the feasibility of measuring facial EMG response to emotional facial expressions in 6-7 year old children. (C) 2012 Elsevier B.V. All rights reserved. C1 [Deschamps, P. K. 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Two present studies investigate the extent to which this measure is sensitive to differences in acoustic processing. In both studies, participants were required to listen to 90 second acoustic stimuli clips with their eyes closed and identify predetermined targets. Experimental conditions were designed to vary the acoustic processing demands. Mu suppression was measured continuously across central electrodes (C3, Cz, and C4). Ten adult females participated in the first study in which the target was a pseudoword presented in three conditions (identification, discrimination, discrimination in noise). Mu suppression was strongest and reached significance relative to baseline only in the discrimination in noise task at C3 (indicative of left hemisphere sensorimotor activity) when measured in a 10-12 Hz bandwidth. Thirteen adult females participated in the second study, which measured mu suppression to acoustic stimuli with 'segmentation' (i.e., separating a parsed stimulus into individual components) versus non-segmentation requirements in both speech and tone discrimination conditions. Significantly greater overall suppression to speech relative to tone tasks was found in the 10-12 Hz bandwidth. Further, suppression relative to baseline was significant only at C3 during the speech discrimination with segmentation task. Taken together, findings indicate that mu rhythm suppression in acoustic processing is sensitive to dorsal stream processing. More specifically, it is sensitive to (1) increases in overall processing demands and (2) processing linguistic versus non-linguistic information. (C) 2012 Elsevier B.V. All rights reserved. C1 [Cuellar, Megan; Bowers, Andrew; Harkrider, Ashley W.; Wilson, Matthew; Saltuklaroglu, Tim] Univ Tennessee, Coll Allied Hlth Sci, Dept Audiol & Speech Pathol, Knoxville, TN 37996 USA. RP Cuellar, M (reprint author), Univ Tennessee, Coll Allied Hlth Sci, Dept Audiol & Speech Pathol, Knoxville, TN 37996 USA. 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In this Review, we discuss the genetics of nine cardinal psychiatric disorders (namely, Alzheimer's disease, attention-deficit hyperactivity disorder, alcohol dependence, anorexia nervosa, autism spectrum disorder, bipolar disorder, major depressive disorder, nicotine dependence and schizophrenia). Empirical approaches have yielded new hypotheses about aetiology and now provide data on the often debated genetic architectures of these conditions, which have implications for future research strategies. Further study using a balanced portfolio of methods to assess multiple forms of genetic variation is likely to yield many additional new findings. C1 [Sullivan, Patrick F.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA. [Sullivan, Patrick F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA. [Daly, Mark J.] Harvard Univ, Dept Genet, Cambridge, MA 02138 USA. [O'Donovan, Michael] Cardiff Univ, MRC Ctr Neuropsychiat Genet, Cardiff CF14 4XN, S Glam, Wales. RP Sullivan, PF (reprint author), Univ N Carolina, Dept Genet, CB 7264, Chapel Hill, NC 27599 USA. EM pfsulliv@med.unc.edu FU US National Institutes of Health (NIH) [MH077139, MH085520]; UK Medical Research Council (MRC) [G0800509, G0801418]; European Community [HEALTH-F2-2010-241909]; NIMH [5P50MH066392-09]; Wellcome Trust FX We remain indebted to the tens of thousand of individuals with psychiatric disorders for their participation in genetic studies of these disorders. We thank many colleagues for helpful critiques, plus a wealth of conversations with colleagues in the Psychiatric Genomics Consortium. We thank the US National Institutes of Health (NIH) for funding (MH077139 and MH085520), T. Lehner of the US National Institute of Mental Health (NIMH) for his continued support, B. Voight and J. Hirschhorn for data relevant to power estimation, S. Ripke for help with figures, J. Szatkiewicz for assistance in reviewing the structural variation literature, and C. Bulik and J. Crowley for helpful comments. M.O. is supported for schizophrenia research by grants from the UK Medical Research Council (MRC) (G0800509, G0801418), the European Community's Seventh Framework Programme (HEALTH-F2-2010-241909 (Project EU-GEI)) and by NIMH (5P50MH066392-09). This study makes use of data generated by DECIPHER. A full list of centres that contributed to the generation of the data is available from http://decipher.sanger.ac.uk. Funding for DECIPHER was provided by the Wellcome Trust. The authors jointly conceived and wrote this paper and take responsibility for its content. 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TI APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease SO NATURE REVIEWS GENETICS LA English DT Review ID COPY NUMBER VARIATION; 17Q21.31 MICRODELETION SYNDROME; AUTISM SPECTRUM DISORDERS; MEIOTIC RECOMBINATION HOTSPOTS; COFFIN-SIRIS SYNDROME; AGE EFFECT MUTATIONS; PATERNAL AGE; MENTAL-RETARDATION; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY AB New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches. In this Review we discuss recent findings suggesting that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and schizophrenia. De novo mutations provide a mechanism by which early-onset reproductively lethal diseases remain frequent in the population. These mutations, although individually rare, may capture a significant part of the heritability for complex genetic diseases that is not detectable by genome-wide association studies. C1 [Veltman, Joris A.; Brunner, Han G.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, Nijmegen, Netherlands. RP Veltman, JA (reprint author), Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, POB 9101, Nijmegen, Netherlands. EM j.veltman@gen.umcn.nl RI Brunner, Han/C-9928-2013; Veltman, Joris/F-5128-2010 FU Netherlands Organization for Health Research and Development [917-66-363]; European Research Council [281964] FX Joris A. Veltman is supported by personal grants from the Netherlands Organization for Health Research and Development (917-66-363) and the European Research Council (281964). 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Rev. Genet. PD AUG PY 2012 VL 13 IS 8 BP 565 EP 575 DI 10.1038/nrg3241 PG 11 WC Genetics & Heredity SC Genetics & Heredity GA 975PX UT WOS:000306524400011 PM 22805709 ER PT J AU Fakira, AK Gaspers, LD Thomas, AP Li, H Jain, MR Elkabes, S AF Fakira, Amanda K. Gaspers, Lawrence D. Thomas, Andrew P. Li, Hong Jain, Mohit R. Elkabes, Stella TI Purkinje cell dysfunction and delayed death in plasma membrane calcium ATPase 2-heterozygous mice SO MOLECULAR AND CELLULAR NEUROSCIENCE LA English DT Article DE Ataxia; Autism; Neurodegeneration; Glutamate; AMPA; Calcium channel; Ion pump; Nitric oxide ID LONG-TERM DEPRESSION; ACTIVATED POTASSIUM CHANNELS; NITRIC-OXIDE; RAT CEREBELLUM; REDUCED EXPRESSION; CA2+ ATPASE; MOUSE-BRAIN; SPINAL-CORD; NEURONS; PROTEIN AB Purkinje cell (PC) dysfunction or death has been implicated in a number of disorders including ataxia, autism and multiple sclerosis. Plasma membrane calcium ATPase 2 (PMCA2), an important calcium (Ca2+) extrusion pump that interacts with synaptic signaling complexes, is most abundantly expressed in PCs compared to other neurons. Using the PMCA2 heterozygous mouse as a model, we investigated whether a reduction in PMCA2 levels affects PC function. We focused on Ca2+ signaling and the expression of glutamate receptors which play a key role in PC function including synaptic plasticity. We found that the amplitude of depolarization and 2-amino-3-(5-methyl-3-oxo-1,2-oxazol-4-yl)ProPanoic acid receptor (AMPAR)-mediated Ca2+ transients are significantly higher in cultured PMCA2(+/-) PCs than in PMCA2(+/+) PCs. This is due to increased Ca2+ influx, since P/Q type voltage-gated Ca2+ channel (VGCC) expression was more pronounced in PCs and cerebella of PMCA2(+/-) mice and VGCC blockade prevented the elevation in amplitude. Neuronal nitric oxide synthase (nNOS) activity was higher in PMCA2(+/-) cerebella and inhibition of nNOS or the soluble guanylate cyclase (sGC)-cyclic guanosine monophosphate (cGMP) pathway, which mediates nitric oxide (NO) signaling, reduced the amplitude of Ca2+ transients in PMCA2(+/-) PCs, in vitro. In addition, there was an age-dependent decrease in metabotropic glutamate receptor 1 (mGluR1) and AMPA receptor subunit GluR2/3 transcript and protein levels at 8 weeks of age. These changes were followed by PC loss in the 20-week-old PMCA2(+/-) mice. Our studies highlight the importance of PMCA2 in Ca2+ signaling, glutamate receptor expression and survival of Purkinje cells. (C) 2012 Elsevier Inc. All rights reserved. C1 [Fakira, Amanda K.; Elkabes, Stella] Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Neurol Surg, Newark, NJ 07103 USA. [Fakira, Amanda K.] Univ Med & Dent New Jersey, New Jersey Med Sch, Grad Sch Biomed Sci, Newark, NJ 07103 USA. [Gaspers, Lawrence D.; Thomas, Andrew P.] Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Physiol & Pharmacol, Newark, NJ 07103 USA. [Li, Hong; Jain, Mohit R.] Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Biochem & Mol Biol, Newark, NJ 07103 USA. [Li, Hong; Jain, Mohit R.] Univ Med & Dent New Jersey, New Jersey Med Sch, Ctr Adv Prote Res, Newark, NJ 07103 USA. [Elkabes, Stella] Univ Med & Dent New Jersey, New Jersey Med Sch, Spine Ctr New Jersey, Reynolds Family Spine Lab, Newark, NJ 07103 USA. RP Elkabes, S (reprint author), UMDNJ NJMS, Dept Neurol Surg, 205 S Orange Ave,F-1204, Newark, NJ 07103 USA. EM elkabest@umdnj.edu RI Thomas, Andrew/C-6755-2013 FU NIH-NINDS [NS046363]; UMDNJ Foundation; NIH [NS046593, T32 5T32NS051157] FX We thank Drs. Vanessa Routh, Joseph McArdle, Michael P. Kurnellas, Amanda Craig and Kevin Pang for valuable help and advice with some of the experiments. We are grateful to Dr. Arnaud Nicot for carefully reading the manuscript. The authors wish to acknowledge their appreciation to Dr. Robert F. Heary and The Reynolds Family Spine Laboratory members. This work was generously supported by grants NS046363 from NIH-NINDS and UMDNJ Foundation to SE and NIH grant NS046593 to HL. AKF was partly supported by T32 5T32NS051157 from NIH. The authors declare no conflict of interest. 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TI Determination of ADHD vs. Autism Spectrum Disorder SO PSYCHIATRIC ANNALS LA English DT Article ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; ATOMOXETINE; SYMPTOMS; PLACEBO C1 Montefiore Med Ctr, Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Autism & Obsess Compuls Spectrum Program, Bronx, NY 10467 USA. RP Antar, LN (reprint author), Montefiore Med Ctr, Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Autism & Obsess Compuls Spectrum Program, 3307 Bainbridge Ave,Off 5, Bronx, NY 10467 USA. 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PD AUG PY 2012 VL 42 IS 8 BP 299 EP 301 DI 10.3928/00485713-20120806-08 PG 3 WC Psychiatry SC Psychiatry GA 014YW UT WOS:000309412900008 ER PT J AU Louw, KA Bentley, J Sorsdahl, K Adnams, C AF Louw, Kerry-Ann Bentley, Judith Sorsdahl, Katherine Adnams, Colleen TI Prevalence and patterns of medication use in children and adolescents with autism spectrum disorders in the Western Cape SO SOUTH AFRICAN JOURNAL OF PSYCHIATRY LA English DT Meeting Abstract C1 [Louw, Kerry-Ann; Bentley, Judith; Sorsdahl, Katherine; Adnams, Colleen] Univ Cape Town, Dept Psychiat & Mental Hlth, ZA-7700 Rondebosch, South Africa. EM kerrylouw@gmail.com NR 0 TC 0 Z9 0 PU SA MEDICAL ASSOC HEALTH & MEDICAL PUBL GROUP PI CLAREMONT PA 21 DREYER ST, 4TH FLOOR, SANCLARE BLDG, CLAREMONT, 7700, SOUTH AFRICA SN 1608-9685 J9 SAJP-S AFR J PSYCHI JI SAJP PD AUG PY 2012 VL 18 IS 3 BP 109 EP 110 PG 2 WC Psychiatry SC Psychiatry GA 015KP UT WOS:000309445100024 ER PT J AU Kino, T Pavlatou, MG Moraitis, AG Nemery, RL Raygada, M Stratakis, CA AF Kino, Tomoshige Pavlatou, Maria G. Moraitis, Andreas G. Nemery, Robin L. Raygada, Margarita Stratakis, Constantine A. TI ZNF764 Haploinsufficiency May Explain Partial Glucocorticoid, Androgen, and Thyroid Hormone Resistance Associated with 16p11.2 Microdeletion SO JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM LA English DT Article ID NUCLEAR RECEPTORS; TIF1 ALPHA; GENE; INDIVIDUALS; DELETIONS; DOMAINS; FAMILY; AUTISM; BETA AB Context: Nuclear hormone receptors exert their transcriptional effects through shared cofactor molecules; thus, defects in such intermediate proteins may be associated with multiple hormone resistance. Microdeletion of small chromosomal segments results in hereditary or sporadic diseases by affecting expression of residing genes. Objectives: We describe a 7-yr-old boy with partial resistance to glucocorticoids, thyroid hormones, and possibly androgens. He was diagnosed as being in the autism spectrum disorder and had developmental delay and several facial morphological manifestations. We explored genes responsible for multiple hormone resistance of this case. Results: We found in this patient an approximately 1.1-Mb heterozygous 16p11.2 microdeletion, which included an approximately 500-kb unique deletion along with the common, previously reported approximately 600-kb 16p11.2 microdeletion. The small interfering RNA-based screening revealed that knockdown of ZNF764, which is located in the deleted segment unique to our case, significantly reduced glucocorticoid-, androgen-, and thyroid hormone-induced transcriptional activity of their responsive genes in HeLa cells, whereas its overexpression enhanced their transcriptional activity. The activities of the estrogen and progesterone receptors, cAMP response element-binding protein, and p53 were not affected in these cells. ZNF764 (zinc finger protein 764) expression was reduced in the patient's peripheral blood mononuclear cells, whereas exogenously supplemented ZNF764 recovered responsiveness to glucocorticoids in the patient's Epstein-Barr virus-transformed lymphocytes. The effect of ZNF764 on the glucocorticoid receptor transcriptional activity was mediated through cooperation with a general nuclear hormone receptor coactivator, transcriptional intermediary factor 1. Conclusions: ZNF764 haploinsufficiency caused by microdeletion may be responsible for the partial multiple hormone resistance observed in our patient. ZNF764 appears to be involved in glucocorticoid, androgen, and thyroid hormone action. (J Clin Endocrinol Metab 97: E1557-E1566, 2012) C1 [Kino, Tomoshige] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Unit Mol Hormone Act, Program Reprod & Adult Endocrinol, Clin Res Ctr,NIH, Bethesda, MD 20892 USA. [Moraitis, Andreas G.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Reprod Endocrinol, Program Reprod & Adult Endocrinol, NIH, Bethesda, MD 20892 USA. 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[Frassinetti, Francesca; Gessaroli, Erica; di Pellegrino, Giuseppe] Univ Bologna, Dept Psychol, I-40126 Bologna, Italy. [Santelli, Erica] Ctr Autismo, Reggio Emilia, Italy. NR 0 TC 0 Z9 0 PU SPRINGER HEIDELBERG PI HEIDELBERG PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY SN 1612-4782 J9 COGN PROCESS JI Cogn. Process. PD AUG PY 2012 VL 13 SU 1 SI SI BP S18 EP S19 PG 2 WC Psychology, Experimental SC Psychology GA 006NA UT WOS:000308824700065 ER PT J AU Louis, P AF Louis, Petra TI Does the Human Gut Microbiota Contribute to the Etiology of Autism Spectrum Disorders? SO DIGESTIVE DISEASES AND SCIENCES LA English DT Editorial Material ID CHILDREN; MICROFLORA; METABOLISM; FECES C1 Univ Aberdeen, Rowett Inst Nutr & Hlth, Aberdeen AB21 9SB, Scotland. RP Louis, P (reprint author), Univ Aberdeen, Rowett Inst Nutr & Hlth, Greenburn Rd, Aberdeen AB21 9SB, Scotland. 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As large bowel fermentation products can have beneficial or detrimental effects on health, these were measured in feces of children with and without ASD to examine whether there is an underlying disturbance in fermentation processes in the disorder. Fecal samples (48 h) were collected from children with ASD (n = 23), and without ASD (n = 31) of similar age. Concentrations of short chain fatty acids, phenols and ammonia were measured. Fecal total short chain fatty acid concentrations were significantly higher in children with ASD compared to controls (136.6 +/- A 8.7 vs. 111.1 +/- A 6.6 mmol/kg). Moreover, when concentrations of fecal acetic, butyric, isobutyric, valeric, isovaleric and caproic acids were measured, all were significantly higher in children with ASD compared with controls except for caproic acid. The concentration of fecal ammonia was also significantly greater in ASD participants than controls (42.7 +/- A 3.3 vs. 32.3 +/- A 1.9 mmol/kg). Fecal phenol levels and pH did not differ between groups. Macronutrient intake, as determined from dietary records kept by caregivers, also did not differ significantly between study groups. Our results suggest fermentation processes or utilization of fermentation products may be altered in children with ASD compared to children without ASD. C1 [Wang, Lv; Sorich, Michael Joseph; Gerber, Jacobus Petrus; Angley, Manya Therese] Univ S Australia, Sansom Inst Hlth Res, Adelaide, SA 5001, Australia. [Christophersen, Claus Thagaard; Conlon, Michael Allan] CSIRO Food & Nutr Sci, Preventat Hlth Natl Res Flagship, Adelaide, SA 5001, Australia. RP Angley, MT (reprint author), Univ S Australia, Sansom Inst Hlth Res, GPO Box 2471, Adelaide, SA 5001, Australia. 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J. Occup. Ther. PD AUG PY 2012 VL 75 IS 8 BP 393 EP 393 PG 1 WC Rehabilitation SC Rehabilitation GA 994CU UT WOS:000307909300008 ER PT J AU Southard, AE Edelmann, LJ Gelb, BD AF Southard, Abigail E. Edelmann, Lisa J. Gelb, Bruce D. TI Role of Copy Number Variants in Structural Birth Defects SO OBSTETRICAL & GYNECOLOGICAL SURVEY LA English DT Editorial Material AB The Human Genome Project led to the discovery that the genome contains multiple regions of DNA gains and losses called copy number variants (CNVs). Benign CNVs not associated with phenotypic anomalies account for a significant proportion of the healthy human genome. However, larger CNVs, often de novo, are pathogenic and have been increasingly recognized as being associated with human disease. Advances in genetic testing have made it possible to identify previously unknown genotypic aberrations among specific CNVs that can be correlated with birth defects, developmental problems, and other phenotypic anomalies. New genetic tests such as array comparative genomic hybridization (CGH) and single nucleotide polymorphism arrays show a clear diagnostic benefit over conventional G-banding karyotypes for patients with autism spectrum disorder, nonsyndromic developmental delay, and multiple congenital anomalies. However, the value of these tests to identify pathogenic CNVs in isolated structural birth defects is unknown. The aim of this study was to document the relationship between specific CNVs and isolated structural abnormalities of the craniofacial, renal, respiratory, and cardiac systems. A nonsystematic review of the literature was conducted using the PubMed database through May 2011 to identify full-length articles published in English. Search terms included CNVs, array CGH, birth defects, and isolated structural defects of the craniofacial, respiratory, renal, and cardiac systems. The review found evidence that putatively pathogenic CNVs occur more frequently in patients with isolated structural birth defects than in the general population. Specific regions of the genome were often implicated. These findings show significant progress in identifying genes and specific loci contributing to isolated structural birth defects through advances in CNV detection. Increasing knowledge of the role of CNVs in disease phenotypes may lead to improved patient care and genetic counseling and, eventually, may result in prenatal screening on a large scale for these and other birth defects. C1 [Southard, Abigail E.] Mt Sinai Sch Med, Child Hlth & Dev Inst, Dept Genet, New York, NY USA. Mt Sinai Sch Med, Child Hlth & Dev Inst, Dept Genom Sci, New York, NY USA. RP Southard, AE (reprint author), Mt Sinai Sch Med, Child Hlth & Dev Inst, Dept Genet, New York, NY USA. NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 0029-7828 J9 OBSTET GYNECOL SURV JI Obstet. Gynecol. Surv. PD AUG PY 2012 VL 67 IS 8 BP 472 EP 473 DI 10.1097/01.ogx.0000419564.79750.3e PG 2 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA 005LG UT WOS:000308751300010 ER PT J AU Liemburg, EJ Swart, M Bruggeman, R Kortekaas, R Knegtering, H Curcic-Blake, B Aleman, A AF Liemburg, Edith J. Swart, Marte Bruggeman, Richard Kortekaas, Rudie Knegtering, Henderikus Curcic-Blake, Branislava Aleman, Andre TI Altered resting state connectivity of the default mode network in alexithymia SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE LA English DT Article DE alexithymia; connectivity; default mode network; fMRI; resting state ID AUTISM SPECTRUM DISORDER; FUNCTIONAL CONNECTIVITY; EMOTION REGULATION; AMYGDALA ACTIVITY; CINGULATE CORTEX; NEGATIVE EMOTION; BRAIN-FUNCTION; FMRI; FEELINGS; SELF AB Alexithymia is a trait characterized by a diminished capacity to describe and distinguish emotions and to fantasize; it is associated with reduced introspection and problems in emotion processing. The default mode network (DMN) is a network of brain areas that is normally active during rest and involved in emotion processing and self-referential mental activity, including introspection. We hypothesized that connectivity of the DMN might be altered in alexithymia. Twenty alexithymic and 18 non-alexithymic healthy volunteers underwent a resting state fMRI scan. Independent component analysis was used to identify the DMN. Differences in connectivity strength were compared between groups. Within the DMN, alexithymic participants showed lower connectivity within areas of the DMN (medial frontal and temporal areas) as compared to non-alexithymic participants. In contrast, connectivity in the high-alexithymic participants was higher for the sensorimotor cortex, occipital areas and right lateral frontal cortex than in the low-alexithymic participants. These results suggest a diminished connectivity within the DMN of alexithymic participants, in brain areas that may also be involved in emotional awareness and self-referential processing. On the other hand, alexithymia was associated with stronger functional connections of the DMN with brain areas involved in sensory input and control of emotion. 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The phenotype includes social cognitive impairments and increased risk for autism traits. We used functional MRI to study neural mechanisms underlying social information processing. Eighteen nonclinical controls and thirteen men with XXY were scanned during judgments of faces with regard to trustworthiness and age. While judging faces as untrustworthy in comparison to trustworthy, men with XXY displayed less activation than controls in (i) the amygdala, which plays a key role in screening information for socio-emotional significance, (ii) the insula, which plays a role in subjective emotional experience, as well as (iii) the fusiform gyrus and (iv) the superior temporal sulcus, which are both involved in the perceptual processing of faces and which were also less involved during age judgments in men with XXY. This is the first study showing that KS can be associated with reduced involvement of the neural network subserving social cognition. Studying KS may increase our understanding of the genetic and hormonal basis of neural dysfunctions contributing to abnormalities in social cognition and behavior, which are considered core abnormalities in psychiatric disorders such as autism and schizophrenia. C1 [van Rijn, Sophie] Leiden Univ, Fac Social Sci Clin Child & Adolescent Studies, NL-2333 AK Leiden, Netherlands. [van Rijn, Sophie; Swaab, Hanna] Leiden Inst Brain & Cognit, NL-2333 ZA Leiden, Netherlands. [Baas, Daan] Univ Utrecht, Helmholtz Inst, Dept Expt Psychol, NL-3584 CS Utrecht, Netherlands. [Baas, Daan; Kahn, Rene S.] Univ Med Ctr Utrecht, Rudolf Magnus Inst Neurosci, Dept Psychiat, NL-3584 CX Utrecht, Netherlands. [de Haan, Edward] Univ Amsterdam, Dept Psychol, NL-1018 WB Amsterdam, Netherlands. [Aleman, Andre] Univ Groningen, Univ Med Ctr Groningen, BCN NeuroImaging Ctr, NL-9713 AW Groningen, Netherlands. RP van Rijn, S (reprint author), Leiden Univ, Fac Social Sci Clin Child & Adolescent Studies, Wassenaarseweg 52, NL-2333 AK Leiden, Netherlands. EM srijn@fsw.leidenuniv.nl FU Netherlands Organization for Scientific Research (NWO) [016.026.027, 016.095.060] FX This work was supported by a VernieuwingsImpuls grant [016.026.027 to A.A.] and a Veni grant [016.095.060 to S.v.R.] from the Netherlands Organization for Scientific Research (NWO). 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Kelly, Clare TI The balance between feeling and knowing: affective and cognitive empathy are reflected in the brain's intrinsic functional dynamics SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE LA English DT Article DE affective empathy; cognitive empathy; fMRI; resting-state functional connectivity; social cognition ID RESTING-STATE FMRI; PSYCHOPATHIC TENDENCIES; FRONTOTEMPORAL DEMENTIA; DOUBLE DISSOCIATION; PERSPECTIVE-TAKING; EMOTIONAL EMPATHY; NEURAL MECHANISMS; ASPERGER-SYNDROME; SOCIAL COGNITION; CONNECTIVITY AB Affective empathy (AE) is distinguished clinically and neurally from cognitive empathy (CE). While AE is selectively disrupted in psychopathy, autism is associated with deficits in CE. Despite such dissociations, AE and CE together contribute to normal human empathic experience. A dimensional measure of individual differences in AE 'relative to' CE captures this interaction and may reveal brain-behavior relationships beyond those detectable with AE and CE separately. Using resting-state fMRI and measures of empathy in healthy adults, we show that relative empathic ability (REA) is reflected in the brain's intrinsic functional dynamics. Dominance of AE was associated with stronger functional connectivity among social-emotional regions (ventral anterior insula, orbitofrontal cortex, amygdala, perigenual anterior cingulate). Dominance of CE was related to stronger connectivity among areas implicated in interoception, autonomic monitoring and social-cognitive processing (brainstem, superior temporal sulcus, ventral anterior insula). These patterns were distinct from those observed with AE and CE separately. Finally, REA and the strength of several functional connections were associated with symptoms of psychopathology. These findings suggest that REA provides a dimensional index of empathic function and pathological tendencies in healthy adults, which are reflected in the intrinsic functional dynamics of neural systems associated with social and emotional cognition. C1 [Cox, Christine L.; Di Martino, Adriana; Castellanos, F. Xavier; Milham, Michael P.; Kelly, Clare] NYU, Ctr Child Study, Phyllis Green & Randolph Cowen Inst Pediat Neuros, Langone Med Ctr, New York, NY 10016 USA. [Uddin, Lucina Q.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA. [Castellanos, F. Xavier; Milham, Michael P.] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA. RP Kelly, C (reprint author), NYU, Ctr Child Study, Phyllis Green & Randolph Cowen Inst Pediat Neuros, Langone Med Ctr, 215 Lexington Ave,14th Floor, New York, NY 10016 USA. EM Clare.Kelly@nyumc.org RI Milham, Michael/K-9501-2014; Di Martino, Adriana/L-2497-2014 FU National Institute on Drug Abuse [2T32DA007254-16A2, R03DA024775, R01DA016979]; National Institute of Mental Health [K01MH092288, K23MH087770, R01MH083246, R01MH081218]; Leon Levy Foundation; Stavros Niarchos Foundation FX The authors thank Dr Xi-Nian Zuo for assistance with fALFF analyses, and all participants for their time and cooperation. This work was supported by the National Institute on Drug Abuse (2T32DA007254-16A2 for C.L.C., R03DA024775 to C.K., and R01DA016979 to F.X.C.); the National Institute of Mental Health (K01MH092288 to L.Q.U., K23MH087770 to A.D.M., and R01MH083246 and R01MH081218 to F.X.C. and M.P.M.); the Leon Levy Foundation (A.D.M. and M.P.M.); the Stavros Niarchos Foundation; and an endowment from Phyllis Green and Randolph Cowen. 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Cogn. Affect. Neurosci. PD AUG PY 2012 VL 7 IS 6 BP 727 EP 737 DI 10.1093/scan/nsr051 PG 11 WC Neurosciences; Psychology; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 998JH UT WOS:000308233400012 PM 21896497 ER PT J AU Kadar, M McDonald, R Lentin, P AF Kadar, Masne McDonald, Rachael Lentin, Primrose TI Evidence-based practice in occupational therapy services for children with autism spectrum disorders in Victoria, Australia SO AUSTRALIAN OCCUPATIONAL THERAPY JOURNAL LA English DT Article DE interventions; professional development; theory ID PRESCHOOL-CHILDREN; INTERVENTIONS; FRAMEWORK; EFFICACY; FAMILIES; BEHAVIOR; CONTEXT AB Background The current practice of occupational therapy services provided for children with autism spectrum disorders in Victoria, Australia was investigated specifically, practice in terms of the theories, assessments and intervention strategies utilised. Identification of professional development needs was also explored. The purpose was to identify how occupational therapy practice may have changed over the last decade and to explore what additional developments are required in the field. Method A self-administered survey was mailed to 322 registered members of Occupational Therapy Australia Limited, Victoria Branch. Results A valid response rate of 20.5% was obtained. The majority of the participants worked in private practice, and had between one and five years of work experience. Theories, assessments and interventions that are associated with or based on, sensory integration and/or processing approaches are highly utilised by the participants in their service delivery with children with autism spectrum disorders. Participants indicated that they felt they needed training and courses around sensory integration. Conclusions We concluded that there were few changes in occupational therapy practice related to the selection of theoretical models, assessments and interventions by the participants in this study over the last decade. It is essential for occupational therapists not to neglect the goals of providing occupation-based interventions to children with autism spectrum disorders by focusing only on sensory-based approaches. An urgent need for occupation-based approaches to working with children with autism spectrum disorders and their families is required. C1 [Kadar, Masne; McDonald, Rachael; Lentin, Primrose] Monash Univ, Dept Occupat Therapy, Fac Med, Sch Primary Hlth Care Nursing & Hlth Sci, Frankston, Vic 3199, Australia. [McDonald, Rachael] Business Ctr Monash, OMNICO, Ctr Dev Disabil Hlth Victoria, Notting Hill, Vic, Australia. 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PD AUG PY 2012 VL 59 IS 4 BP 284 EP 293 DI 10.1111/j.1440-1630.2012.01015.x PG 10 WC Rehabilitation SC Rehabilitation GA 997ZA UT WOS:000308205800005 PM 22934901 ER PT J AU Stagnitti, K O'Connor, C Sheppard, L AF Stagnitti, Karen O'Connor, Chloe Sheppard, Loretta TI Impact of the Learn to Play program on play, social competence and language for children aged 5-8 years who attend a specialist school SO AUSTRALIAN OCCUPATIONAL THERAPY JOURNAL LA English DT Article DE autism; developmental disability; intervention; pretend play ID YOUNG-CHILDREN; SYMBOLIC PLAY; PEER PLAY; AUTISM; SCALE; MODEL AB Introduction The aim of this study was to investigate the change in the relationship between play, language and social skills of children aged 58 years pre and post participation in the Learn to Play program. The Learn to Play program is a child led play based intervention aimed at developing self-initiated pretend play skills in children. Methods All 19 participants attended a specialist school, with 10 of the 19 children having a diagnosis of autism. The play, language and social skills of the children were assessed at baseline and at follow up. Children were assessed using the Child-Initiated Pretend Play Assessment, the Preschool Language Scale and the Penn Interactive Peer Play Scale. Follow up data collection occurred after the children had been participating in the Learn to Play program for 1 hour twice a week for 6 months. Results After 6 months in the program, typical indicators of play accounted for an increase of 47.3% in shared variance with social interaction and an increase of 36% in shared variance for social connection. For language, object substitution ability accounted for 50% of the shared variance, which was an increase of 27% from baseline. Conclusion The Learn to Play program was associated with increases in children's language and social skills over a 6-month period within a special school setting, indicating the Learn to Play program is an effective intervention for children with developmental disabilities. This paper presents an example of how the Learn to Play program can be adapted into a classroom setting. C1 [Stagnitti, Karen; O'Connor, Chloe] Deakin Univ, Sch Hlth & Social Dev, Deakin, Vic, Australia. [Sheppard, Loretta] Australian Catholic Univ, Melbourne, Vic, Australia. RP Stagnitti, K (reprint author), Deakin Univ, Sch Hlth & Social Dev, Waterfront Campus,Gheringhap St, Geelong, Vic 3217, Australia. 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Occup. Ther. J. PD AUG PY 2012 VL 59 IS 4 BP 302 EP 311 DI 10.1111/j.1440-1630.2012.01018.x PG 10 WC Rehabilitation SC Rehabilitation GA 997ZA UT WOS:000308205800007 PM 22934903 ER PT J AU Rovelet-Lecrux, A Campion, D AF Rovelet-Lecrux, Anne Campion, Dominique TI Copy number variations involving the microtubule-associated protein tau in human diseases SO BIOCHEMICAL SOCIETY TRANSACTIONS LA English DT Article DE copy number variation; microtubule; neurodegenerative disorder; schizophrenia; tau ID HUMAN GENOME; 17Q21.31 MICRODUPLICATION; DEVELOPMENTAL DELAY; COMMON INVERSION; MAPT GENE; MICE; MICRODELETION; SAITOHIN; PHOSPHORYLATION; REARRANGEMENTS AB Mutations of the MAPT (microtubule-associated protein tau) gene are associated with FTLD (frontotemporal lobar degeneration) with tau pathology. These mutations result in a decreased ability of tau to bind MTs (microtubules), an increased production of tau with four MT-binding repeats or enhanced tau aggregation. In two FTLD patients, we recently described CNVs (copy number variations) affecting the MAPT gene, consisting of a partial deletion and a complete duplication of the gene. The partial deletion resulted in a truncated protein lacking the first MT-binding domain, which had a dramatic decrease in the binding to MTs but acquired the ability to bind MAP (microtubule-associated protein) 1-B. In this case, tauopathy probably resulted from both a loss of normal function and a gain of function by which truncated tau would sequester another MAP. In the other FTLD patient, the complete duplication might result in the overexpression of tau, which in the mouse model induces axonopathy and tau aggregates reminiscent of FTLD-tau pathology. Interestingly, the same rearrangement was also described in several children with mental retardation, autism spectrum disorders and dysmorphic features, as well as in a schizophrenic patient. Finally, complete deletions of the MAPT gene have been associated with mental retardation, hypotonia and facial dysmorphism. C1 [Rovelet-Lecrux, Anne; Campion, Dominique] INSERM, U1079, Rouen, France. [Rovelet-Lecrux, Anne; Campion, Dominique] Univ Rouen, Inst Res & Innovat Biomed, Rouen, France. RP Rovelet-Lecrux, A (reprint author), INSERM, U1079, Rouen, France. EM anne.roveletlecrux@univ-rouen.fr FU Inserm grants; G4 grants [2004/147/HP-UF R 809] FX Studies in our laboratory were supported by Inserm grants and by G4 grants [contract grant number 2004/147/HP-UF R 809]. 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Med. PD AUG PY 2012 VL 6 IS 4 BP 503 EP 506 DI 10.2217/BMM.12.34 PG 4 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 986ES UT WOS:000307324600015 PM 22917150 ER PT J AU Lawton, K Kasari, C AF Lawton, Kathy Kasari, Connie TI Teacher-Implemented Joint Attention Intervention: Pilot Randomized Controlled Study for Preschoolers With Autism SO JOURNAL OF CONSULTING AND CLINICAL PSYCHOLOGY LA English DT Article DE autism; teacher; intervention; preschool; joint attention ID YOUNG-CHILDREN; LANGUAGE; PLAY AB Objective: The vast majority of children with an autism spectrum disorder (ASD) attend public preschools at some point in their childhood. Community preschool practices often are not evidence based, and almost none target the prelinguistic core deficits of ASD. This study investigated the effectiveness of public preschool teachers implementing a validated intervention (the Joint Attention and Symbolic Play/Engagement and Regulation intervention; JASP/ER) on a core deficit of autism, initiating joint attention. Method: Sixteen dyads (preschoolers with ASD and the public school teachers who worked in the child's classroom) were randomly assigned to the 6-week JASP/ER intervention or a control group. Results: At the end of the intervention, JASP/ER teachers used more JASP/ER strategies than the control teachers, and JASP/ER preschoolers used more joint attention in their classroom than control children. Additionally, JASP/ER children spent more time in supported engagement and less time in object engagement than control preschoolers on a taped play interaction. Conclusions: Findings suggest that teachers were able to improve a core deficit of children with ASD in a public preschool context. 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Consult. Clin. Psychol. PD AUG PY 2012 VL 80 IS 4 BP 687 EP 693 DI 10.1037/a0028506 PG 7 WC Psychology, Clinical SC Psychology GA 979YW UT WOS:000306861800015 PM 22582764 ER PT J AU Kloiber, S Czamara, D Karbalai, N Muller-Myhsok, B Hennings, J Holsboer, F Lucae, S AF Kloiber, Stefan Czamara, Darina Karbalai, Nazanin Mueller-Myhsok, Bertram Hennings, Johannes Holsboer, Florian Lucae, Susanne TI ANK3 and CACNA1C-Missing genetic link for bipolar disorder and major depressive disorder in two German case-control samples SO JOURNAL OF PSYCHIATRIC RESEARCH LA English DT Article DE Depression; Genetics; Bipolar disorder; CACNA1C; ANK3 ID GENOME-WIDE ASSOCIATION; UNIPOLAR DEPRESSION; SCHIZOPHRENIA; SPECTRUM; CHANNEL; FAMILY; AUTISM; RISK; LOCI AB Recent genome-wide association studies (GWAS) and metaanalyses revealed genetic associations for ANK3 (ankyrin 3) and CACNA1C (alpha 1C subunit of the L-type voltage gated calcium channel) with bipolar disorder (BPD). Several findings from clinical, epidemiological, and genetic studies point towards a common biological background of BPD and major depressive disorder (MDD). We were interested whether this also applies for ANK3 and CACNA1C and tested associations of single nucleotide polymorphisms (SNPs) in these genes with MOD in two Caucasian case-control samples. Sample 1 (Munich Antidepressant Response Signature Project/MARS - MOD) consisted of 720 depressed inpatients and 542 psychiatric healthy controls. Sample 2 (unipolar recurrent depression (URD)) consisted of 827 patients with URD and 860 psychiatric healthy controls. After stringent quality control we analyzed 262 SNPs (sample 1) and 504 SNPs (sample 2) and imputed further 5771 SNPs (sample 1) and 5534 SNPs (sample 2) from Hapmap Phase 2 data in the ANK3 and CACNA1C gene regions. Additionally, a meta-analysis of both samples was performed. Several SNPs in both genes were nominally associated with MDD with the highest association in the 3'-region of ANK3 (rs10994143, nominal p = 3.3*10(-4)) in the metaanalysis of both samples. None of these results remained significant after correction for multiple testing. No association of MDD with SNPs previously reported in BPD studies could be detected. By analyzing the LD-structure, our highest associated SNPs could not be linked to the SNPs previously reported in BPD. Regarding ANK3 and CACNA1C, our findings do not support a strong genetic link between BPD and MOD for these two genes. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Kloiber, Stefan; Czamara, Darina; Karbalai, Nazanin; Mueller-Myhsok, Bertram; Hennings, Johannes; Holsboer, Florian; Lucae, Susanne] Max Planck Inst Psychiat, Munich, Germany. RP Kloiber, S (reprint author), Max Planck Inst Psychiat, Kraepelinstr 2-10, Munich, Germany. EM stkloiber@mpipsykl.mpg.de RI Muller-Myhsok, Bertram/A-3289-2013 FU Max Planck Society; German Federal Ministry for Education and Research (BMBF) [FKZ 01GS0481]; BMBF [01ES0811]; Max Planck Excellence Foundation FX This work was funded by the Max Planck Society and in part by a research grant from the German Federal Ministry for Education and Research (BMBF) in the framework of the National Genome Research Network (NGFN2 and NGFN-Plus, FKZ 01GS0481) and by the BMBF Program "Molecular Diagnostics: Validation of Biomarkers for Diagnosis and Outcome in Major Depression" (01ES0811). The authors' research on personalized medicine is supported by the Max Planck Excellence Foundation. 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PD AUG PY 2012 VL 46 IS 8 BP 1106 EP 1107 DI 10.1016/j.jpsychires.2012.04.011 PG 2 WC Psychiatry SC Psychiatry GA 980AF UT WOS:000306865300020 PM 22622072 ER PT J AU Lee, C Walter, G Cleary, M AF Lee, Cindy Walter, Garry Cleary, Michelle TI Communicating with Children with Autism Spectrum Disorder and Their Families A Practical Introduction SO JOURNAL OF PSYCHOSOCIAL NURSING AND MENTAL HEALTH SERVICES LA English DT Article ID SOCIAL-SKILLS; ADOLESCENTS; LIFE AB Impaired communication and social interaction are symptoms central to autism spectrum disorder (ASD). Children or young people with ASD have varied intellectual ability, learning difficulty, and needs. For caregivers and health care professionals providing care to children with ASD, many challenges are encountered in everyday conversations. Enhanced knowledge of the spectrum and understanding the child or young person with ASD may improve conversation and social experiences. This article provides a practical introduction for health professionals seeking to improve their interaction with young people with ASD. Fictional vignettes, in which children with ASD are seeking care and support are presented, followed by discussion on communicating with children with ASD. Copyright (C) SLACK Incorporated C1 [Cleary, Michelle] Natl Univ Singapore, Yong Loo Lin Sch Med, Alice Lee Ctr Nursing Studies, Clin Res Ctr, Singapore 117597, Singapore. [Walter, Garry] Univ Sydney, N Ryde, NSW, Australia. [Walter, Garry] No Sydney Local Hlth Dist, Child Serv, N Ryde, NSW, Australia. [Walter, Garry] No Sydney Local Hlth Dist, Adolescent Mental Hlth Serv, N Ryde, NSW, Australia. RP Cleary, M (reprint author), Natl Univ Singapore, Yong Loo Lin Sch Med, Alice Lee Ctr Nursing Studies, Clin Res Ctr, Level 2,Block MD11,10 Med Dr, Singapore 117597, Singapore. 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Psychosoc. Nurs. Ment. Health Serv. PD AUG PY 2012 VL 50 IS 8 BP 40 EP 44 DI 10.3928/02793695-20120703-06 PG 5 WC Nursing SC Nursing GA 002QA UT WOS:000308546000011 PM 22801823 ER PT J AU Plastow, M AF Plastow, Michael TI 'Theory of mind' II: difficulties and critiques SO AUSTRALASIAN PSYCHIATRY LA English DT Article DE autism; cognitive; false-belief tasks; second-person; 'theory of mind' AB Objective: 'Theory of mind' will be further examined firstly by looking at the experimental situation that was used to put forward this notion. A fundamental difficulty regarding the failure of 'theory of mind' to account for the misunderstandings of everyday life will be discussed. Other difficulties in the experimental conceptualisation of this notion will then be studied. Critiques that have previously been made of 'theory of mind' will also be examined. Conclusions: 'Theory of mind' proposes an ideal of limpid understanding of the other. It is argued here that this notion of mind-reading is belied by its failure in our everyday lives. The experimental results by which this notion was proposed are neither sensitive nor specific. It is argued that there is also a fundamental error in this conception and its experimental design due to assessing a second-person phenomenon by a third-person method. Critiques of 'theory of mind' emphasise the epistemological difficulties and the fact that it is a poor explanation for the interactions of non-autistic subjects. RP Plastow, M (reprint author), Alfred CAMHS, 999 Nepean Hwy, Moorabbin, Vic 3189, Australia. EM m.plastow@alfred.org.au CR BARONCOHEN S, 1985, COGNITION, V21, P37, DOI 10.1016/0010-0277(85)90022-8 Baron-Cohen Simon, 1995, MINDBLINDNESS ESSAY Freud S, 1960, STANDARD EDITION COM, VVI Gallagher S., 2004, PHILOS PSYCHIAT PSYC, V11, P199, DOI [10.1353/ppp.2004.0063, DOI 10.1353/PPP.2004.0063] Happe Francesca, 1995, AUTISM INTRO PSYCHOL Lacan Jacques, 2006, ECRITS 1 COMPLETE ED, P82 Plastow M, 2012, AUSTRALAS PSYCHIATRY, V20, P199, DOI 10.1177/1039856212447882 Richard Gipps, 2004, PHILOS PSYCHIAT PSYC, V11, P195, DOI 10.1353/ppp.2004.0065 Shankar S. G., 2004, PHILOS PSYCHIAT PSYC, V11, P219, DOI 10.1353/ppp.2004.0068 NR 9 TC 3 Z9 3 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1039-8562 J9 AUSTRALAS PSYCHIATRY JI Australas. Psychiatry PD AUG PY 2012 VL 20 IS 4 BP 291 EP 294 DI 10.1177/1039856212449670 PG 4 WC Psychiatry SC Psychiatry GA 996KG UT WOS:000308084700006 PM 22767933 ER PT J AU Simonoff, E AF Simonoff, Emily TI Autism spectrum disorder: prevalence and cause may be bound together SO BRITISH JOURNAL OF PSYCHIATRY LA English DT Editorial Material ID POPULATION; COHORT AB Autism has been in the forefront of science and public concern because of reported increases in its prevalence. Changing diagnostic practice and improved identification explain some of this rise, but there may also be a true increase. Aetiological research needs to include environmental factors to understand the causes of autism. C1 Inst Psychiat, Dept Child & Adolescent Psychiat, London SE5 8AF, England. RP Simonoff, E (reprint author), Inst Psychiat, Dept Child & Adolescent Psychiat, De Crespigny Pk, London SE5 8AF, England. EM emily.simonoff@kcl.ac.uk RI Simonoff, Emily/B-7593-2011 CR BAILEY A, 1995, PSYCHOL MED, V25, P63 Baird G, 2006, LANCET, V368, P210, DOI 10.1016/S0140-6736(06)69041-7 Baron-Cohen S, 2010, PROG BRAIN RES, V186, P167, DOI 10.1016/B978-0-444-53630-3.00011-7 Bejerot S, 2012, BRIT J PSYCHIAT, V201, P116, DOI 10.1192/bjp.bp.111.097899 Kim YS, 2011, AM J PSYCHIAT, V168, P904, DOI 10.1176/appi.ajp.2011.10101532 Magnusson C, 2012, BRIT J PSYCHIAT, V201, P109, DOI 10.1192/bjp.bp.111.095125 Mandy W, 2011, AUTISM RES, V4, P121, DOI 10.1002/aur.178 Mattila ML, 2011, J AM ACAD CHILD ADOL, V50, P583 Robinson EB, 2011, ARCH GEN PSYCHIAT, V68, P1113, DOI 10.1001/archgenpsychiatry.2011.119 Rutter M, 1999, J CHILD PSYCHOL PSYC, V40, P537, DOI 10.1017/S0021963099003935 Stoltenberg C, 2010, MOL PSYCHIATR, V15, P676, DOI 10.1038/mp.2009.143 NR 11 TC 2 Z9 2 PU ROYAL COLLEGE OF PSYCHIATRISTS PI LONDON PA BRITISH JOURNAL OF PSYCHIATRY 17 BELGRAVE SQUARE, LONDON SW1X 8PG, ENGLAND SN 0007-1250 J9 BRIT J PSYCHIAT JI Br. J. Psychiatry PD AUG PY 2012 VL 201 IS 2 BP 88 EP 89 DI 10.1192/bjp.bp.111.104703 PG 2 WC Psychiatry SC Psychiatry GA 987NI UT WOS:000307423800002 PM 22859574 ER PT J AU Magnusson, C Rai, D Goodman, A Lundberg, M Idring, S Svensson, A Koupil, I Serlachius, E Dalman, C AF Magnusson, Cecilia Rai, Dheeraj Goodman, Anna Lundberg, Michael Idring, Selma Svensson, Anna Koupil, Ilona Serlachius, Eva Dalman, Christina TI Migration and autism spectrum disorder: population-based study SO BRITISH JOURNAL OF PSYCHIATRY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; PERINATAL RISK-FACTORS; INFANTILE-AUTISM; EPIDEMIOLOGY; PREVALENCE; IMMIGRANTS; CHILDHOOD; ETHNICITY; CHILDREN; STRESS AB Background Migration has been implicated as a risk factor for autism, but evidence is limited and inconsistent. Aims To investigate the relationship between parental migration status and risk of autism spectrum disorder, taking into consideration the importance of region of origin, timing of migration and possible discrepancies in associations between autism subtypes. Method Record-linkage study within the total child population of Stockholm County between 2001 and 2007. Individuals with high- and low-functioning autism were defined as having autism spectrum disorder with and without comorbid intellectual disability, and ascertained via health and habilitation service registers. Results In total, 4952 individuals with autism spectrum disorder were identified, comprising 2855 children with high-functioning autism and 2097 children with low-functioning autism. Children of migrant parents were at increased risk of low-functioning autism (odds ratio (OR) = 1.5, 95% CI 1.3-1.7); this risk was highest when parents migrated from regions with a low human development index, and peaked when migration occurred around pregnancy (OR=2.3, 95% CI 1.7-3.0). A decreased risk of high-functioning autism was observed in children of migrant parents, regardless of area of origin or timing of migration. Parental age, income or obstetric complications did not fully explain any of these associations. Conclusions Environmental factors associated with migration may contribute to the development of autism presenting with comorbid intellectual disability, especially when acting in utero. High- and low-functioning autism may have partly different aetiologies, and should be studied separately. C1 [Magnusson, Cecilia; Rai, Dheeraj; Lundberg, Michael; Idring, Selma; Svensson, Anna; Dalman, Christina] Karolinska Inst, Dept Publ Hlth Sci, Div Publ Hlth Epidemiol, S-17176 Stockholm, Sweden. [Rai, Dheeraj] Univ Bristol, Sch Social & Community Med, Acad Unit Psychiat, Bristol BS8 1TH, Avon, England. [Goodman, Anna] London Sch Hyg & Trop Med, Fac Epidemiol & Populat Hlth, London WC1, England. [Goodman, Anna; Koupil, Ilona] Stockholm Univ, Karolinska Inst, Ctr Hlth Equ Studies CHESS, S-10691 Stockholm, Sweden. [Lundberg, Michael] Stockholm Cty Council, Neuropsychiat Resource Team SE Stockholm, Stockholm, Sweden. [Idring, Selma; Serlachius, Eva] Karolinska Inst, Div Psychiat, Dept Clin Neurosci, S-17176 Stockholm, Sweden. RP Magnusson, C (reprint author), Karolinska Inst, Dept Publ Hlth Sci, Div Publ Hlth Epidemiol, S-17176 Stockholm, Sweden. EM cecilia.magnusson@ki.se RI Serlachius, Eva/E-8956-2013 OI Serlachius, Eva/0000-0001-7115-6422 FU Stockholm County Council; Swedish Council for Working Life and Social Research [2007-2064]; Severn Deanery, Bristol, UK FX The Stockholm County Council, the Swedish Council for Working Life and Social Research (grant no. 2007-2064). D.R. is supported by a clinical lecturer award funded by the Severn Deanery, Bristol, UK. 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J. Psychiatry PD AUG PY 2012 VL 201 IS 2 BP 109 EP 115 DI 10.1192/bjp.bp.111.095125 PG 7 WC Psychiatry SC Psychiatry GA 987NI UT WOS:000307423800009 PM 22361019 ER PT J AU Bejerot, S Eriksson, JM Bonde, S Canstrom, K Humble, MB Eriksson, E AF Bejerot, Susanne Eriksson, Jonna M. Bonde, Sabina Canstrom, Kjell Humble, Mats B. Eriksson, Elias TI The extreme male brain revisited: gender coherence in adults with autism spectrum disorder SO BRITISH JOURNAL OF PSYCHIATRY LA English DT Article ID FETAL TESTOSTERONE; FUNCTIONING AUTISM; SEX-DIFFERENCES; LENGTH RATIOS; VOICE PITCH; OXYTOCIN; VASOPRESSIN; CHALLENGE; CHILDREN; BEHAVIOR AB Background The 'extreme male brain' theory suggests that autism spectrum disorder (ASD) is an extreme variant of male intelligence. However, somewhat paradoxically, many individuals with ASD display androgynous physical features regardless of gender. Aims To assess physical measures, supposedly related to androgen influence, in adults with and without ASD. Method Serum hormone levels, anthropometry, the ratio of 2nd to 4th digit length (2D:4D) and psychiatric symptomatology were measured in 50 adults with high-functioning ASD and age- and gender-matched neurotypical controls. Photographs of face and body, as well as voice recordings, were obtained and assessed with respect to gender coherence, blindly and independently, by eight assessors. Results Women with ASD had higher total and bioactive testosterone levels, less feminine facial features and a larger head circumference than female controls. Men in the ASD group were assessed as having less masculine body characteristics and voice quality, and displayed higher (i.e. less masculine) 2D:4D ratios, but similar testosterone levels to controls. Androgynous facial features correlated strongly and positively with autistic traits measured with the Autism-Spectrum Quotient in the total sample. In males and females with ASD dehydroepiandrosterone sulfate did not decrease with age, in contrast to the control group. Conclusions Women with ASD had elevated testosterone levels and several masculinised characteristics compared with controls, whereas men with ASD displayed several feminised characteristics. Our findings suggest that ASD, rather than being characterised by masculinisation in both genders, may constitute a gender defiant disorder. C1 [Bejerot, Susanne] St Goran Hosp, VUB KogNUS, No Stockholm Psychiat, SE-11281 Stockholm, Sweden. [Bejerot, Susanne; Eriksson, Jonna M.; Canstrom, Kjell] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden. [Canstrom, Kjell] Karolinska Inst, Div Obstet & Gynaecol, Dept Woman & Child Hlth, Stockholm, Sweden. [Humble, Mats B.] Univ Uppsala Hosp, Dept Clin Neurosci, Uppsala, Sweden. [Eriksson, Elias] Univ Gothenburg, Inst Neurosci & Physiol, Dept Pharmacol, Gothenburg, Sweden. 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TI Autism Spectrum Disorders SO BRITISH JOURNAL OF PSYCHIATRY LA English DT Book Review C1 [Thambirajah, M. S.] British Journal Psychiat, London SW1X 8PG, England. RP Thambirajah, MS (reprint author), British Journal Psychiat, 17 Belgrave Sq, London SW1X 8PG, England. EM bjp@rcpsych.ac.uk CR Amaral D., 2011, AUTISM SPECTRUM DISO NR 1 TC 0 Z9 0 PU ROYAL COLLEGE OF PSYCHIATRISTS PI LONDON PA BRITISH JOURNAL OF PSYCHIATRY 17 BELGRAVE SQUARE, LONDON SW1X 8PG, ENGLAND SN 0007-1250 J9 BRIT J PSYCHIAT JI Br. J. Psychiatry PD AUG PY 2012 VL 201 IS 2 BP 163 EP 164 PG 2 WC Psychiatry SC Psychiatry GA 987NI UT WOS:000307423800023 ER PT J AU Johansson, CF AF Johansson, C. F. TI Infectious Behavior: Brain-immune Connections in Autism, Schizophrenia, and Depression SO BRITISH JOURNAL OF PSYCHIATRY LA English DT Book Review EM doctorfreddie@gmail.com CR Patterson PH, 2011, INFECTIOUS BEHAVIOR: BRAIN-IMMUNE CONNECTIONS IN AUTISM, SCHIZOPHRENIA, AND DEPRESSION, P1 NR 1 TC 0 Z9 0 PU ROYAL COLLEGE OF PSYCHIATRISTS PI LONDON PA BRITISH JOURNAL OF PSYCHIATRY 17 BELGRAVE SQUARE, LONDON SW1X 8PG, ENGLAND SN 0007-1250 J9 BRIT J PSYCHIAT JI Br. J. Psychiatry PD AUG PY 2012 VL 201 IS 2 BP 164 EP 165 DI 10.1192/bjp.bp.112.113829 PG 2 WC Psychiatry SC Psychiatry GA 987NI UT WOS:000307423800026 ER PT J AU Maras, KL Bowler, DM AF Maras, Katie L. Bowler, Dermot M. TI Context reinstatement effects on eyewitness memory in autism spectrum disorder SO BRITISH JOURNAL OF PSYCHOLOGY LA English DT Article ID SCHOOL-AGE-CHILDREN; COGNITIVE INTERVIEW; FREE-RECALL; ASPERGERS-SYNDROME; EPISODIC MEMORY; OLDER-ADULTS AB The Cognitive Interview is among the most widely accepted forms of police interviewing techniques; however, it is ineffective for witnesses with autism spectrum disorder (ASD). One of its main components involves mentally reinstating the internal and external context that was experienced at encoding. We report evidence showing that it is the mental reinstatement instructions in the absence of any physical cues that individuals with ASD find difficult. In more supported conditions where they physically return to the same environment in which they learnt the material, they recall as much as their typical counterparts. Our findings indicate that recall in ASD is aided by context, but only when supported by the physical environment. These findings have important implications for investigative interviewing procedures for witnesses with ASD. C1 [Maras, Katie L.] City Univ London, Dept Psychol, Autism Res Grp, London EC1V 0HB, England. RP Maras, KL (reprint author), City Univ London, Dept Psychol, Autism Res Grp, London EC1V 0HB, England. 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J. Psychol. PD AUG PY 2012 VL 103 BP 330 EP 342 DI 10.1111/j.2044-8295.2011.02077.x PN 3 PG 13 WC Psychology, Multidisciplinary SC Psychology GA 974BQ UT WOS:000306405200004 PM 22804700 ER PT J AU Guo, TY Chen, H Liu, B Ji, WD Yang, C AF Guo, Tianyou Chen, Hong Liu, Bing Ji, Weidong Yang, Chuang TI Methylenetetrahydrofolate Reductase Polymorphisms C677T and Risk of Autism in the Chinese Han Population SO GENETIC TESTING AND MOLECULAR BIOMARKERS LA English DT Article ID SINGLE NUCLEOTIDE POLYMORPHISMS; PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; GENE POLYMORPHISMS; OXIDATIVE STRESS; ASSOCIATION; CHILDREN; MTHFR; PREVALENCE; INDIVIDUALS AB Causes of autism are still unknown. Some studies have shown that autism might be associated with metabolic abnormalities in the folate/homocysteine pathway, which is involved in DNA methylation, thus altering gene expression. The association between the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphisms and the risk of autism is still controversial and ambiguous. The purpose of this study was to examine the effect of the MTHFR C677T polymorphism on the autism risk in the Chinese Han population. A population-based case-control study was conducted in 186 children with autism and 186 controls. The MTHFR C677T polymorphisms were determined by using a polymerase chain reaction-restriction fragment length polymorphism assay. The frequency of genotype MTHFR 677TT in children with autism (16.1%) was significantly higher (odds ratio [OR] = 2.04; 95% confidence interval [CI] = 1.07, 3.89; p = 0.03] than those in controls (8.6%). When stratifying by select-item scores on the Autism Diagnostic Interview-Revised, it was found that children with current overactivity had a significantly higher frequency of the MTHFR 677TT genotype (OR = 2.77, 95% CI = 1.17, 6.60; p = 0.02) than those without. This study suggested that MTHFR C677T is a risk factor of autism in Chinese Han children. C1 [Chen, Hong; Yang, Chuang] WenZhou Med Coll, Dept Psychiat, Affiliated Hosp 1, Wenzhou 325000, Zhejiang, Peoples R China. [Guo, Tianyou] Shenzhen Univ, Dept Psychol, Normal Coll, Shenzhen, Guangdong, Peoples R China. [Liu, Bing] WenZhou Med Coll, Dept Psychol, Wenzhou 325000, Zhejiang, Peoples R China. [Ji, Weidong] Changning Mental Hlth Ctr, Dept Psychiat, Shanghai, Peoples R China. RP Yang, C (reprint author), WenZhou Med Coll, Dept Psychiat, Affiliated Hosp 1, 2 FuXue Lane, Wenzhou 325000, Zhejiang, Peoples R China. EM cyang186@hotmail.com CR Algasham A, 2009, GENET TEST MOL BIOMA, V13, P817, DOI 10.1089/gtmb.2009.0019 Ali A, 2009, GENET TEST MOL BIOMA, V13, P355, DOI 10.1089/gtmb.2008.0115 Chakrabarti S, 2001, JAMA-J AM MED ASSOC, V285, P3093, DOI 10.1001/jama.285.24.3093 Charman T, 2002, EUR CHILD ADOLES PSY, V11, P249, DOI 10.1007/s00787-002-0297-8 Demirel Y, 2011, GENET TEST MOL BIOMA, V15, P785, DOI 10.1089/gtmb.2011.0044 dos Santos PAC, 2010, PSYCHIAT GENET, V20, P187, DOI 10.1097/YPG.0b013e32833a2220 Freitag CM, 2007, MOL PSYCHIATR, V12, P2, DOI 10.1038/sj.mp.4001896 Gadow KD, 2010, J AUTISM DEV DISORD, V40, P1139, DOI [10.1007/s10803-010-0961-7, 10.1007/s10803-010-0959-1] Gadow KD, 2010, EUR J NEUROSCI, V32, P1058, DOI 10.1111/j.1460-9568.2010.07382.x Gava MM, 2011, GENET TEST MOL BIOMA, V15, P153, DOI 10.1089/gtmb.2010.0128 Gebril OH, 2011, DIS MARKERS, V31, P289, DOI 10.3233/DMA-2011-0830 Goin-Kochel RP, 2009, AUTISM RES, V2, P98, DOI 10.1002/aur.70 Guerini FR, 2011, J NEUROIMMUNOL, V230, P135, DOI 10.1016/j.jneuroim.2010.10.019 Guerini FR, 2011, PHARMACOL RES, V64, P283, DOI 10.1016/j.phrs.2011.03.015 James SJ, 2006, AM J MED GENET B, V141B, P947, DOI 10.1002/ajmg.b.30366 Karathanasis NV, 2011, GENET TEST MOL BIOMA, V15, P5, DOI 10.1089/gtmb.2010.0083 Kim HW, 2009, AM J MED GENET B, V150B, P300, DOI 10.1002/ajmg.b.30798 Lauritsen MB, 2001, ACTA PSYCHIAT SCAND, V103, P411, DOI 10.1034/j.1600-0447.2001.00086.x Li XP, 2010, PSYCHIAT GENET, V20, P113, DOI 10.1097/YPG.0b013e32833a216f Liu XD, 2011, J AUTISM DEV DISORD, V41, P938, DOI 10.1007/s10803-010-1120-x Liu XX, 2010, J HUM GENET, V55, P137, DOI 10.1038/jhg.2009.140 LORD C, 1989, J AUTISM DEV DISORD, V19, P185, DOI 10.1007/BF02211841 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Mansoor A, 2009, GENET TEST MOL BIOMA, V13, P521, DOI 10.1089/gtmb.2009.0012 Mohammad NS, 2009, PSYCHIAT GENET, V19, P171, DOI 10.1097/YPG.0b013e32832cebd2 Mukhopadhyay R, 2009, GENET TEST MOL BIOMA, V13, P861, DOI 10.1089/gtmb.2009.0063 Pasca SP, 2009, J CELL MOL MED, V13, P4229, DOI 10.1111/j.1582-4934.2008.00463.x Rogers EJ, 2008, MED HYPOTHESES, V71, P406, DOI 10.1016/j.mehy.2008.04.013 Sadiq MF, 2011, GENET TEST MOL BIOMA, V15, P51, DOI 10.1089/gtmb.2010.0057 Schmidt RJ, 2011, EPIDEMIOLOGY, V22, P476, DOI 10.1097/EDE.0b013e31821d0e30 Sousa I, 2010, MOL AUTISM, V1, DOI 10.1186/2040-2392-1-7 Vasilopoulos Y, 2011, GENET TEST MOL BIOMA, V15, P613, DOI 10.1089/gtmb.2010.0256 Weiss LA, 2009, EXPERT REV MOL DIAGN, V9, P795, DOI [10.1586/erm.09.59, 10.1586/ERM.09.59] Wilcken B, 2003, J MED GENET, V40, P619, DOI 10.1136/jmg.40.8.619 Yang PC, 2010, NEUROPSYCHOBIOLOGY, V62, P104, DOI 10.1159/000315441 Yang SY, 2010, NEUROSCI LETT, V479, P197, DOI 10.1016/j.neulet.2010.05.050 NR 36 TC 7 Z9 8 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1945-0265 J9 GENET TEST MOL BIOMA JI Genet. Test. Mol. Biomark. PD AUG PY 2012 VL 16 IS 8 BP 968 EP 973 DI 10.1089/gtmb.2012.0091 PG 6 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 999IN UT WOS:000308303200026 PM 22775456 ER PT J AU Pearson, DA Aman, MG Arnold, LE Lane, DM Loveland, KA Santos, CW Casat, CD Mansour, R Jerger, SW Ezzell, S Factor, P Vanwoerden, S Ye, E Narain, P Cleveland, LA AF Pearson, Deborah A. Aman, Michael G. Arnold, L. Eugene Lane, David M. Loveland, Katherine A. Santos, Cynthia W. Casat, Charles D. Mansour, Rosleen Jerger, Susan W. Ezzell, Sarah Factor, Perry Vanwoerden, Salome Ye, Enstin Narain, Punya Cleveland, Lynne A. TI High Concordance of Parent and Teacher Attention-Deficit/Hyperactivity Disorder Ratings in Medicated and Unmedicated Children with Autism Spectrum Disorders SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; EMOTIONAL-PROBLEMS; BEHAVIOR PROBLEMS; YOUNG-PEOPLE; ADHD; HYPERACTIVITY; AGREEMENT; SYMPTOMS; SAMPLE; CLASSIFICATION AB Objective: Parent and teacher ratings of core attention-deficit/hyperactivity disorder (ADHD) symptoms, as well as behavioral and emotional problems commonly comorbid with ADHD, were compared in children with autism spectrum disorders (ASD). Method: Participants were 86 children (66 boys; mean: age = 9.3 years, intelligence quotient [IQ] = 84) who met American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) criteria for an ASD on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). Parent and teacher behavioral ratings were compared on the Conners' Parent and Teacher Rating Scales (CPRS-R; CTRS-R). The degree to which age, ASD subtype, severity of autistic symptomatology, and medication status mediated this relationship was also examined. Results: Significant positive correlations between parent and teacher ratings suggest that a child's core ADHD symptoms-as well as closely related externalizing symptoms-are perceived similarly by parents and teachers. With the exception of oppositional behavior, there was no significant effect of age, gender, ASD subtype, or autism severity on the relationship between parent and teacher ratings. In general, parents rated children as having more severe symptomatology than did teachers. Patterns of parent and teacher ratings were highly correlated, both for children who were receiving medication, and for children who were not. Conclusions: Parents and teachers perceived core symptoms of ADHD and closely-related externalizing problems in a similar manner, but there is less agreement on ratings of internalizing problems (e.g., anxiety). The clinical implication of these findings is that both parents and teachers provide important behavioral information about children with ASD. However, when a clinician is unable to access teacher ratings (e.g., during school vacations), parent ratings can provide a reasonable estimate of the child's functioning in these domains in school. As such, parent ratings can be reliably used to make initial diagnostic and treatment decisions (e.g., medication treatment) regarding ADHD symptoms in children with ASDs. C1 [Pearson, Deborah A.; Loveland, Katherine A.; Santos, Cynthia W.; Mansour, Rosleen; Ezzell, Sarah; Vanwoerden, Salome; Ye, Enstin; Cleveland, Lynne A.] Univ Texas Houston, Sch Med, Dept Psychiat & Behav Sci, Houston, TX 77054 USA. [Aman, Michael G.; Arnold, L. Eugene] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA. [Lane, David M.; Factor, Perry; Narain, Punya] Rice Univ, Houston, TX USA. [Casat, Charles D.] Carolina NeuroSolut LC, Dept Psychol, Charleston, NC USA. [Jerger, Susan W.] Univ Texas Dallas, Sch Behav & Brain Sci, Dallas, TX 75230 USA. RP Pearson, DA (reprint author), Univ Texas Houston, Sch Med, Dept Psychiat & Behav Sci, 1941 E Rd, Houston, TX 77054 USA. EM Deborah.A.Pearson@uth.tmc.edu FU Curemark LLC; Biomarin Pharmaceuticals; Bristol-Myers Squibb; Confluence Pharmaceutica; Forest Research; Hoffman LaRoche; Johnson Johnson; Supernus Pharmaceutica; CureMark; Lilly; NIMH; Shire; Eli Lilly; Novartis; Abbott Laboratories; National Institute of Mental Health (NIMH) [MH072263] FX Dr. Pearson and Ms. Mansour have received travel reimbursement from the Forest Research Institute, and research support from Curemark LLC. Dr. Pearson has also served as a consultant to Curemark LLC and to United BioSource Corporation. Michael Aman, Ph.D. has received research contracts, consulted with, or served on advisory boards of Biomarin Pharmaceuticals, Bristol-Myers Squibb, Confluence Pharmaceutica, Forest Research, Hoffman LaRoche, Johnson & Johnson, and Supernus Pharmaceutica. Dr. Arnold has received research funding from CureMark, Lilly, NIMH, and Shire, has consulted to Organon, NIDA, Sigma Tau, and Targacept, and has served on advisory boards for AstraZeneca, Biomarin, Novartis, Noven, and Seaside Therapeutics. Dr. Santos and Ms. Ezzell have received research support from Curemark LLC. Dr. Casat has received research funding from Eli Lilly, Novartis, and Abbott Laboratories. Dr. Jerger has served as a consultant to Pearson Assessments/Psychological Corporation. The other authors report no biomedical financial interests or potential conflicts of interest.This study was funded by grant number MH072263 from the National Institute of Mental Health (NIMH). 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PD AUG PY 2012 VL 22 IS 4 BP 284 EP 291 DI 10.1089/cap.2011.0067 PG 8 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 994MB UT WOS:000307933800005 PM 22849541 ER PT J AU Storch, EA May, JE Wood, JJ Jones, AM De Nadai, AS Lewin, AB Arnold, EB Murphy, TK AF Storch, Eric A. May, Jill Ehrenreich Wood, Jeffrey J. Jones, Anna M. De Nadai, Alessandro S. Lewin, Adam B. Arnold, Elysse B. Murphy, Tanya K. TI Multiple Informant Agreement on the Anxiety Disorders Interview Schedule in Youth with Autism Spectrum Disorders SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; PSYCHOPATHOLOGY RATING-SCALES; STRUCTURED INTERVIEW; INTERRATER AGREEMENT; DIAGNOSTIC INTERVIEW; CHILDREN; PARENT; SYMPTOMS; RELIABILITY; SYMPTOMATOLOGY AB Objective: The purpose of this study was to examine child, parent, and clinician's consensus agreement on the Anxiety Disorders Interview Schedule, Child and Parent versions (ADIS-C/P) in a sample of children and adolescents with autism spectrum disorders (ASD). Method: Youth with ASD (n = 85; age range = 7-17 years) and their parents were each administered the ADIS-C/P by a trained clinician. Consensus diagnoses were determined in a clinical conference using best estimate procedures that incorporated all available information. Results: Children and youth with ASD diagnoses generally showed poor diagnostic agreement with parents and clinical consensus, whereas parents showed good-to-excellent diagnostic agreement with clinical consensus diagnoses. Diagnostic agreement between parents and consensus was moderated by the specific ASD diagnosis. Otherwise, the pattern of relationships did not systematically differ as a function of age or externalizing comorbidity. Conclusions: These data suggest that parent and youth agreement regarding the presence of clinical levels of anxiety is markedly poor among youth with ASD. Additionally, clinicians are likely to base their diagnostic impressions on parent report, placing minimal emphasis on child report. C1 [Storch, Eric A.; Jones, Anna M.; Lewin, Adam B.; Arnold, Elysse B.; Murphy, Tanya K.] Univ S Florida, Dept Pediat, St Petersburg, FL 33701 USA. [Storch, Eric A.; Lewin, Adam B.; Murphy, Tanya K.] Univ S Florida, Dept Psychiat, St Petersburg, FL 33701 USA. 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PD AUG PY 2012 VL 22 IS 4 BP 292 EP 299 DI 10.1089/cap.2011.0114 PG 8 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 994MB UT WOS:000307933800006 PM 22856332 ER PT J AU Niwa, T Aida, N Tanaka, Y Tanaka, M Shiomi, M Machida, J AF Niwa, Tetsu Aida, Noriko Tanaka, Yukichi Tanaka, Mio Shiomi, Masae Machida, Jiro TI Scurvy in a Child With Autism: Magnetic Resonance Imaging and Pathological Findings SO JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY LA English DT Article DE scurvy; magnetic resonance imaging; autistic disorder; child; pathology AB We present a case of scurvy in a 6-year-old boy with autism and an unbalanced diet. The patient was admitted with difficulties in walking. Magnetic resonance imaging findings of the thigh showed diffuse signal abnormality in the bone marrow, periosteum, and the femoral muscle. A biopsy specimen of the femur showed hematoma, proliferative fibroblasts, and few collagen fibers, which suggested a deficiency of vitamin C. Although recurrent periosteal hematoma may be suggestive of scurvy, this finding was subtle in the current case. It is important to be aware of this rare disease because it is easily cured with vitamin C supplementation. C1 [Niwa, Tetsu; Aida, Noriko] Kanagawa Childrens Med Ctr, Dept Radiol, Minami Ku, Yokohama, Kanagawa 2328555, Japan. [Tanaka, Yukichi; Tanaka, Mio] Kanagawa Childrens Med Ctr, Dept Pathol, Minami Ku, Yokohama, Kanagawa 2328555, Japan. [Shiomi, Masae] Kanagawa Childrens Med Ctr, Dept Hematooncol Regenerat Med, Minami Ku, Yokohama, Kanagawa 2328555, Japan. [Machida, Jiro] Kanagawa Childrens Med Ctr, Dept Orthoped Surg, Minami Ku, Yokohama, Kanagawa 2328555, Japan. RP Niwa, T (reprint author), Kanagawa Childrens Med Ctr, Dept Radiol, Minami Ku, 2-138-4 Mutsukawa, Yokohama, Kanagawa 2328555, Japan. 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PD AUG PY 2012 VL 15 IS 3 BP 253 EP 254 DI 10.1007/s11019-012-9422-8 PG 2 WC Ethics; History & Philosophy Of Science SC Social Sciences - Other Topics; History & Philosophy of Science GA 986ZL UT WOS:000307386100001 PM 22688721 ER PT J AU Barnes, RE McCabe, H AF Barnes, R. Eric McCabe, Helen TI Should we welcome a cure for autism? A survey of the arguments SO MEDICINE HEALTH CARE AND PHILOSOPHY LA English DT Article DE Autism; Ethics; Cure; Disability; Bioethics; Medical ethics ID MORAL AGENCY; EMPATHY; CHILDREN AB Substantial research efforts have been devoted to developing a cure for autism, but some advocates of people with autism claim that these efforts are misguided and even harmful. They claim that there is nothing wrong with people with autism, so there is nothing to cure. Others argue that autism is a serious and debilitating disorder and that a cure for autism would be a wonderful medical breakthrough. Our goal in this essay is to evaluate what assumptions underlie each of these positions. We evaluate the arguments made on each side, reject those that are implausible and then highlight the key assumptions of those that remain. C1 [Barnes, R. Eric] Hobart & William Smith Coll, Dept Philosophy, Geneva, NY 14456 USA. [McCabe, Helen] Hobart & William Smith Coll, Dept Educ, Geneva, NY 14456 USA. RP Barnes, RE (reprint author), Hobart & William Smith Coll, Dept Philosophy, Geneva, NY 14456 USA. EM barnes@hws.edu; mccabe@hws.edu CR Baggs A., 2008, WORLD I WANT LIVE Barnbaum D.R., 2008, ETHICS AUTISM THEM B Benn P., 1999, PHILOS PSYCHIAT PSYC, V6, P29 Beveridge C.J., 2001, YOU WILL DREAM NEW D, P81 Biklen D., 2005, AUTISM MYTH PERSON A Bondy A, 2001, BEHAV MODIF, V25, P725, DOI 10.1177/0145445501255004 Cohen D., 2001, OUR JOURNEY YOU WILL, P85 Cohen N., 2008, COMMUNICATION 0415 Cohen S., 2002, TARGETING AUTISM Dancy J., 1997, READING PARFIT Dawson M., 2004, MISBEHAVIOUR BEHAVIO Donnelly J.A., 2000, FOCUS AUTISM OTHER D, V15, P196, DOI 10.1177/108835760001500402 Durand V.M., 1993, BEHAVIOUR CHANGE, V10, P197 Feinberg J., 1984, MORAL LIMITS CRIMINA, V1- 4 Filipek PA, 1999, J AUTISM DEV DISORD, V29, P439, DOI 10.1023/A:1021943802493 Grandin T., 1996, EMERGENCE LABELED AU Grandin Temple, 2006, THINKING PICTURES MY, Vrev Harmon A., 2004, NAMIBIAN 0112 HOBSON RP, 1993, PHILOS PSYCHOL, V6, P227, DOI 10.1080/09515089308573090 Jary DJJ, 1991, HARPER COLLINS DICT Kennett J, 2002, PHILOS QUART, V52, P340, DOI 10.1111/1467-9213.00272 Klein S.D., 2001, YOU WILL DREAM NEW D Krahn T, 2007, J ETHICS MENTAL HLTH, V2, P1 Krahn T, 2009, J THEOR SOC BEHAV, V39, P145, DOI 10.1111/j.1468-5914.2009.00402.x LOVAAS OI, 1987, J CONSULT CLIN PSYCH, V55, P3, DOI 10.1037/0022-006X.55.1.3 Naseef R. A., 2001, SPECIAL CHILDREN CHA Nussbaum M., 1993, THE QUALITY OF LIFE Nussbaum M. C., 2007, FRONTIERS JUSTICE DI Rachels J., 2004, ELEMENTS MORAL PHILO Rawls J, 1971, THEORY JUSTICE Roberts D., 2008, ABC NEWS 0519 Saner E., 2007, GUARDIAN 0529 Schrandt JA, 2009, J APPL BEHAV ANAL, V42, P17, DOI 10.1901/jaba.2009.42-17 Senator S., 2005, MAKING PEACE AUTISM Shapiro J., 2006, AUTISM MOVEMENT SEEK Shoemaker D, 2007, ETHICS, V118, P70, DOI 10.1086/521280 Shoemaker Sydney, 1984, PERSONAL IDENTITY Sigafoos J, 1996, BEHAV MODIF, V20, P60, DOI 10.1177/01454455960201003 Sinclair J., 1993, OUR VOICE AUTISM NET Sinclair J., 2005, AUTISM NETWORK INT D Treffert DA, 2009, PHILOS T R SOC B, V364, P1351, DOI 10.1098/rstb.2008.0326 Trivedi B, 2005, NEW SCI, V186, P36 WERTHEIMER ALAN, 1987, COERCION NR 43 TC 0 Z9 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 1386-7423 J9 MED HEALTH CARE PHIL JI Med. Health Care Philos. PD AUG PY 2012 VL 15 IS 3 BP 255 EP 269 DI 10.1007/s11019-011-9339-7 PG 15 WC Ethics; History & Philosophy Of Science SC Social Sciences - Other Topics; History & Philosophy of Science GA 986ZL UT WOS:000307386100002 PM 21837546 ER PT J AU Jaarsma, P Gelhaus, P Welin, S AF Jaarsma, Pier Gelhaus, Petra Welin, Stellan TI Living the categorical imperative: autistic perspectives on lying and truth telling-between Kant and care ethics SO MEDICINE HEALTH CARE AND PHILOSOPHY LA English DT Article DE High-functioning autism; Autobiographies; Truthfulness; Moral responsibilities; Moral education; Kant; Ethics of care ID EMOTIONAL EMPATHY AB Lying is a common phenomenon amongst human beings. It seems to play a role in making social interactions run more smoothly. Too much honesty can be regarded as impolite or downright rude. Remarkably, lying is not a common phenomenon amongst normally intelligent human beings who are on the autism spectrum. They appear to be 'attractively morally innocent' and seem to have an above average moral conscientious objection against deception. In this paper, the behavior of persons with autism with regard to deception and truthfulness will be discussed in the light of two different ethical theories, illustrated by fragments from autobiographies of persons with autism. A systemizing 'Kantian' and an empathizing 'ethics of care' perspective reveal insights on high-functioning autism, truthfulness and moral behavior. Both perspectives are problematic from the point of view of a moral agent with autism. High-functioning persons with autism are, generally speaking, strong systemizes and weak empathizers. Particularly, they lack 'cognitive empathy' which would allow them to understand the position of the other person. Instead, some tend to invent a set of rules that makes their behavior compatible with the expectations of others. From a Kantian point of view, the autistic tendency to always tell the truth appears praiseworthy and should not be changed, though it creates problems in the social life of persons with autism. From a care ethics perspective, on the other hand, a way should be found to allow the high-functioning persons with autism to respect the feelings and needs of other persons as sometimes overruling the duty of truthfulness. We suggest this may even entail 'morally educating' children and adolescents with autism to become socially skilled empathic 'liars'. C1 [Jaarsma, Pier; Welin, Stellan] Linkoping Univ, IMH, Div Hlth & Soc, Linkoping, Sweden. [Gelhaus, Petra] Univ Munster, Inst Eth Hist & Philosophy Med, Munster, Germany. RP Jaarsma, P (reprint author), Linkoping Univ, IMH, Div Hlth & Soc, Linkoping, Sweden. 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Health Care Philos. PD AUG PY 2012 VL 15 IS 3 BP 271 EP 277 DI 10.1007/s11019-011-9363-7 PG 7 WC Ethics; History & Philosophy Of Science SC Social Sciences - Other Topics; History & Philosophy of Science GA 986ZL UT WOS:000307386100003 PM 22065242 ER PT J AU Kim, KY Jung, YW Sullivan, GJ Chung, L Park, IH AF Kim, Kun-Yong Jung, Yong Wook Sullivan, Gareth J. Chung, Leeyup Park, In-Hyun TI Cellular reprogramming: a novel tool for investigating autism spectrum disorders SO TRENDS IN MOLECULAR MEDICINE LA English DT Review ID PLURIPOTENT STEM-CELLS; FRAGILE-X-SYNDROME; CHILDHOOD-ONSET SCHIZOPHRENIA; COPY NUMBER VARIATION; HUMAN SOMATIC-CELLS; RETT-SYNDROME; IPS CELLS; DIRECT CONVERSION; DEFINED FACTORS; PARKINSONS-DISEASE AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in reciprocal social interaction and communication, as well as the manifestation of stereotyped behaviors. Despite much effort, ASDs are not yet fully understood. Advanced genetics and genomics technologies have recently identified novel ASD genes, and approaches using genetically engineered murine models or postmortem human brain have facilitated understanding ASD. Reprogramming somatic cells into induced pluripotent stem cells (iPSCs) provides unprecedented opportunities in generating human disease models. Here, we present an overview of applying iPSCs in developing cellular models for understanding ASD. We also discuss future perspectives in the use of iPSCs as a source of cell therapy and as a screening platform for identifying small molecules with efficacy for alleviating ASD. C1 [Kim, Kun-Yong; Jung, Yong Wook; Park, In-Hyun] Yale Univ, Sch Med, Dept Genet, Yale Stem Cell Ctr, New Haven, CT 06520 USA. [Jung, Yong Wook] CHA Univ, CHA Gangnam Med Ctr, Dept Obstet & Gynecol, Seoul, South Korea. [Sullivan, Gareth J.] Univ Oslo, Inst Basic Med Sci, Fac Med, Stem Cell Epigenet Lab, Oslo, Norway. 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Med PD AUG PY 2012 VL 18 IS 8 BP 463 EP 471 DI 10.1016/j.molmed.2012.06.002 PG 9 WC Biochemistry & Molecular Biology; Cell Biology; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Cell Biology; Research & Experimental Medicine GA 994DY UT WOS:000307912300005 PM 22771169 ER PT J AU Singh, RK Cooper, TA AF Singh, Ravi K. Cooper, Thomas A. TI Pre-mRNA splicing in disease and therapeutics SO TRENDS IN MOLECULAR MEDICINE LA English DT Review DE alternative splicing; cis mutations; trans splicing factors; spliceosome; splicing related human diseases; antisense oligonucleotide therapy ID MYOTONIC-DYSTROPHY TYPE-1; DUCHENNE MUSCULAR-DYSTROPHY; TRIPLET REPEAT RNA; DEVELOPMENTAL DISORDER; HEXANUCLEOTIDE REPEAT; CHLORIDE CHANNEL; PYRUVATE-KINASE; TRANSGENIC MICE; SKELETAL-MUSCLE; CANDIDATE-GENE AB In metazoans, alternative splicing of genes is essential for regulating gene expression and contributing to functional complexity. Computational predictions, comparative genomics, and transcriptome profiling of normal and diseased tissues indicate that an unexpectedly high fraction of diseases are caused by mutations that alter splicing. Mutations in cis elements cause missplicing of genes that alter gene function and contribute to disease pathology. Mutations of core spliceosomal factors are associated with hematolymphoid neoplasias, retinitis pigmentosa, and microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Mutations in the trans regulatory factors that control alternative splicing are associated with autism spectrum disorder, amyotrophic lateral sclerosis (ALS), and various cancers. In addition to discussing the disorders caused by these mutations, this review summarizes therapeutic approaches that have emerged to correct splicing of individual genes or target the splicing machinery. C1 [Singh, Ravi K.; Cooper, Thomas A.] Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA. 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Med PD AUG PY 2012 VL 18 IS 8 BP 502 EP 502 PG 1 WC Biochemistry & Molecular Biology; Cell Biology; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Cell Biology; Research & Experimental Medicine GA 994DY UT WOS:000307912300009 ER PT J AU Marx, G Gilon, C AF Marx, Gerard Gilon, Chaim TI The Molecular Basis of Memory SO ACS CHEMICAL NEUROSCIENCE LA English DT Editorial Material DE Memory; information; ionic chip; neuron; extracellular matrix; trace metal ID BRAIN EXTRACELLULAR-MATRIX; CHONDROITIN SULFATE PROTEOGLYCAN; MAGNETIC-RESONANCE SPECTROSCOPY; NEUTRON-ACTIVATION ANALYSIS; CENTRAL-NERVOUS-SYSTEM; TENASCIN-R; SYNAPTIC PLASTICITY; HYALURONIC-ACID; DEFICIENT MICE; ION CHANNELS AB We propose a tripartite biochemical mechanism for memory. Three physiologic components are involved, namely, the neuron (individual and circuit), the surrounding neural extracellular matrix, and the various trace metals distributed within the matrix. The binding of a metal cation affects a corresponding nanostructure (shrinking twisting, expansion) and dielectric sensibility of the chelating node (address) within the matrix lattice, sensed by the neuron. The neural extracellular matrix serves as an electro-elastic lattice, wherein neurons manipulate multiple trace metals (n > 10) to encode, store, and decode coginive information. The proposed mechanism explains brains low energy requirements and high rates of storage capacity described in multiples of Avogadro number (N-A = 6 x 10(23)). Supportive evidence correlates memory loss to trace metal toxicity or deficiency, or breakdown in the delivery/transport of metals to the matrix, or its degradation. Inherited diseases revolving around dysfunctional trace metal metabolism and memory dysfunction, include Alzheimer's disease (Al, Zn, Fe), Wilson's disease (Cu), thalassemia (Fe), and autism (metallothionein). 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Neurosci. PD AUG PY 2012 VL 3 IS 8 BP 633 EP 642 DI 10.1021/cn300097b PG 10 WC Biochemistry & Molecular Biology; Chemistry, Medicinal; Neurosciences SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy; Neurosciences & Neurology GA 990BL UT WOS:000307605900010 PM 23050060 ER PT J AU Rai, K Hegde, AM Jose, N AF Rai, Kavita Hegde, Amitha M. Jose, Nijo TI Salivary antioxidants and oral health in children with autism SO ARCHIVES OF ORAL BIOLOGY LA English DT Article DE Autism; Salivary antioxidants; Oral health ID LIPID-PEROXIDATION; FREE-RADICALS; PERIODONTITIS; GINGIVAL; DISEASE AB Individuals with autism vary widely in abilities, intelligence, and behaviours. Autistic children have preferences for soft and sweetened food making them susceptible to caries. A wide spectrum of medical and behavioural symptoms is exhibited by children with autism, which makes routine dental care very difficult in them. Mental retardation is evident in approximately 70% of individuals with autism and most psychiatric disorders including autism are associated with increased oxidative stress. Objectives: To evaluate the oral health status of children with autism and to determine the salivary pH and total salivary antioxidant concentration (TAC). Materials and methods: 101 subjects with autism between age group of 6 and 12 year were part of the study and 50 normal healthy siblings of same age group were taken as control group. Oral health status was analysed using oral hygiene index-simplified and dentition status index. The salivary total anti-oxidant level was estimated using phosphomolybdic acid using spectrophotometric method and the salivary pH using the pH indicating paper. The results were statistically analyzed using Mann-Whitney U test. Results: A statistically very highly significant difference was seen in the mean oral hygiene index scores (autistic group-1.2 and control group-1, P < 0.001) and the mean salivary total antioxidant concentration (autistic group - 5.71 mu g/ml and control group - 38 mu g/ml, P < 0.001). No statistical significant difference was observed in the dental caries status and the salivary pH of autistic group and the control group. Conclusions: Similar dental caries status was observed in children with autism and their healthy normal siblings. Oral hygiene was poor in children with autism whereas the Salivary TAC was significantly reduced in autistic children. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Rai, Kavita; Hegde, Amitha M.; Jose, Nijo] AB Shetty Mem Inst Dent Sci, Dept Pedodont & Prevent Children Dent, Mangalore, Karnataka, India. RP Jose, N (reprint author), AB Shetty Mem Inst Dent Sci, Dept Pedodont & Prevent Children Dent, Mangalore, Karnataka, India. 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Oral Biol. PD AUG PY 2012 VL 57 IS 8 BP 1116 EP 1120 DI 10.1016/j.archoralbio.2012.03.006 PG 5 WC Dentistry, Oral Surgery & Medicine SC Dentistry, Oral Surgery & Medicine GA 992RO UT WOS:000307797600016 PM 22521893 ER PT J AU Honekopp, J AF Hoenekopp, Johannes TI Digit Ratio 2D:4D in Relation to Autism Spectrum Disorders, Empathizing, and Systemizing: A Quantitative Review SO AUTISM RESEARCH LA English DT Review DE autism; digit ratio; prenatal testosterone; empathizing; systemizing; sex differences ID MALE BRAIN THEORY; DIRECT FINGER MEASUREMENTS; FETAL TESTOSTERONE; EYES TEST; SEX-DIFFERENCES; 2D4D; METAANALYSIS; 2ND; 2D-4D; POPULATION AB Prenatal testosterone (PT) effects have been proposed to increase systemizing (the drive to understand lawful inputoutput relationships), to decrease empathizing (the drive to understand others), and to cause autism via hypermasculinization of the brain. Digit ratio 2D:4D is a putative marker of PT effects in humans. 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PD AUG PY 2012 VL 5 IS 4 BP 221 EP 230 DI 10.1002/aur.1230 PG 10 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 991WF UT WOS:000307733300001 PM 22674640 ER PT J AU Cascio, CJ Moana, EJ Guest, S Nebel, MB Weisner, J Baranek, GT Essick, GK AF Cascio, Carissa J. Moana-Filho, Estephan J. Guest, Steve Nebel, Mary Beth Weisner, Jonathan Baranek, Grace T. Essick, Gregory K. TI Perceptual and Neural Response to Affective Tactile Texture Stimulation in Adults with Autism Spectrum Disorders SO AUTISM RESEARCH LA English DT Article DE touch; fMRI; sensory; adults; psychophysics; affective ID HUMAN BRAIN; UNMYELINATED AFFERENTS; DEVELOPMENTAL DELAYS; SENSORY FEATURES; SOCIAL COGNITION; FUNCTIONAL MRI; HAIRY SKIN; CHILDREN; TOUCH; TODDLERS AB Autism spectrum disorders (ASD) are associated with differences in sensory sensitivity and affective response to sensory stimuli, the neural basis of which is still largely unknown. We used psychophysics and functional magnetic resonance imaging (fMRI) to investigate responses to somatosensory stimulation with three textured surfaces that spanned a range of roughness and pleasantness in a sample of adults with ASD and a control group. While psychophysical ratings of roughness and pleasantness were largely similar across the two groups, the ASD group gave pleasant and unpleasant textures more extreme average ratings than did controls. In addition, their ratings for a neutral texture were more variable than controls, indicating they are less consistent in evaluating a stimulus that is affectively ambiguous. Changes in brain blood oxygenation level-dependent (BOLD) signal in response to stimulation with these textures differed substantially between the groups, with the ASD group exhibiting diminished responses compared to the control group, particularly for pleasant and neutral textures. For the most unpleasant texture, the ASD group exhibited greater BOLD response than controls in affective somatosensory processing areas such as the posterior cingulate cortex and the insula. The amplitude of response in the insula in response to the unpleasant texture was positively correlated with social impairment as measured by the Autism Diagnostic Interview-Revised (ADI-R). These results suggest that people with ASD tend to show diminished response to pleasant and neutral stimuli, and exaggerated limbic responses to unpleasant stimuli, which may contribute to diminished social reward associated with touch, perpetuating social withdrawal, and aberrant social development. Autism Res 2012,5:231244. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Cascio, Carissa J.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37235 USA. [Moana-Filho, Estephan J.; Guest, Steve; Weisner, Jonathan; Essick, Gregory K.] Univ N Carolina, Sch Dent, Ctr Neurosensory Disorders, Chapel Hill, NC USA. [Baranek, Grace T.] Univ N Carolina, Dept Allied Hlth Sci, Div Occupat Sci & Occupat Therapy, Chapel Hill, NC USA. [Cascio, Carissa J.] Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN USA. [Nebel, Mary Beth] Johns Hopkins Univ, Kennedy Krieger Inst, Baltimore, MD USA. RP Cascio, CJ (reprint author), Vanderbilt Univ, Dept Psychiat, 1601 23rd Ave S,Suite 3057, Nashville, TN 37235 USA. EM carissa.cascio@vanderbilt.edu RI Nebel, Mary Beth/D-3305-2015 OI Nebel, Mary Beth/0000-0003-0185-3382 FU Autism Speaks [2082] FX This work was supported by Autism Speaks (#2082 awarded to G. K. E). The authors wish to thank Rachael Wachter, Abigail Carroll-Sharpe, Ryan Allred, Thomas Pardue, and John Bulluck for assistance with data collection and management, as well as the participants who generously shared their time and effort for this study. None of the authors have conflicts of interest to declare. 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Eye tracking and visual event-related potentials (ERPs) were recorded in 35 infants (20 average-risk typical infants, 15 high-risk siblings of children with ASD) while they viewed photographs of a smiling unfamiliar female face. On 30% of the trials, the eyes or the mouth of that face was replaced with corresponding features from a different female. There were no group differences in the number, duration, or distribution of fixations, and all infants looked at the eyes and mouth regions equally. However, increased attention to the mouth was associated with weaker receptive communication skills and increased attention to the eyes correlated with better interpersonal skills. ERP results revealed that all infants detected eye and mouth changes but did so using different brain mechanisms. Changes in facial features were associated with changes in activity of the face perception mechanisms (N290) for the average-risk group but not for the high-risk infants. For all infants, correlations between ERP and eye-tracking measures indicated that larger and faster ERPs to feature changes were associated with fewer fixations on the irrelevant regions of stimuli. The size and latency of the ERP responses also correlated with parental reports of receptive and expressive communication skills, suggesting that differences in brain processing of human faces are associated with individual differences in social-communicative behaviors. Autism Res 2012, 5: 253266. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Key, Alexandra P. F.] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA. [Key, Alexandra P. F.] Vanderbilt Univ, Dept Hearing & Speech Sci, Nashville, TN 37203 USA. [Stone, Wendy L.] Univ Washington, Dept Psychol, Seattle, WA 98195 USA. [Stone, Wendy L.] Univ Washington, UW Autism Ctr, Seattle, WA 98195 USA. RP Key, APF (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, 230 Appleton Pl,Peabody Box 74, Nashville, TN 37203 USA. EM sasha.key@vanderbilt.edu FU Marino Autism Research Institute (MARI); NICHD [P30 HD15052] FX The authors declare no conflict of interest. This work was supported in part by a Marino Autism Research Institute (MARI) Discovery Award to Dr. Alexandra Key and by NICHD Grant P30 HD15052 to Vanderbilt Kennedy Center. We would like to thank Ms. Susan M. Williams, Ms. Stephanie Bradshaw, and Ms. Katie Knoedelseder for their assistance in recruiting and testing the participants. 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Recently, Gotham, Pickles, and Lord published a severity metric (calibrated severity scores; CSS) that takes into account age and language level and is based on raw total scores of the Autism Diagnostic Observation Schedule (ADOS), a standardized measure commonly used in autism diagnosis. The present study examined psychometric characteristics of the CSS compared to raw scores in an independent sample of 368 children aged 2 to 12 years with autism, pervasive developmental disorder-not otherwise specified (PDD-NOS), non-spectrum delay, or typical development. Reflecting the intended calibration, the CSS were more uniformly distributed within clinical diagnostic category and across ADOS modules than were raw scores. Cross-sectional analyses examining raw and severity scores and their relationships to participant characteristics revealed that verbal developmental level was a significant predictor of raw score but accounted for significantly less variance in the CSS. Longitudinal analyses indicated overall stability of the CSS over 12 to 24 months in children with autism. Findings from this study support the use of the CSS as a more valid indicator of autism severity than the ADOS raw total score, and extend the literature by examining the stability over 12 to 24 months of the CSS in children with ASD. Autism Res 2012, 5: 267276. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Shumway, Stacy; Farmer, Cristan; Thurm, Audrey; Joseph, Lisa; Black, David; Golden, Christine] NIMH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA. RP Farmer, C (reprint author), NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr,MSC 1C250, Bethesda, MD 20892 USA. EM farmerca@mail.nih.gov FU National Institute of Mental Health (NIMH) FX This research was supported by the Intramural Program of the National Institute of Mental Health (NIMH). 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Frank TI Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2 SO AUTISM RESEARCH LA English DT Article DE language delay; autism; ASD; CMIP; intellectual disability ID GIANT AXONAL NEUROPATHY; C-MIP INTERACTS; LANGUAGE IMPAIRMENT; MENTAL-RETARDATION; SPEECH; GENE; MUTATIONS; LINKAGE; FOXP1 AB In a developmentally delayed girl with an autism spectrum disorder, Single nucleotide polymorphism (SNP) array analysis showed a de novo 280?kb deletion on chromosome 16q23.2 involving two genes, GAN and CMIP. Inactivating mutations in GAN cause the autosomal recessive disorder giant axonal neuropathy, not present in our patient. CMIP was recently implicated in the etiology of specific language impairment by genome-wide association analysis. It modulates phonological short-term memory and hence plays an important role in language acquisition. Overlaps of specific language impairment and autism have been debated in the literature regarding the phenotypical language profile as well as etiology. Our patient illustrates that haploinsufficiency of CMIP may contribute to autism spectrum disorders. Our finding further supports the existence of a genetic overlap in the etiology of specific language impairment and autism. Autism Res 2012, 5: 277281. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Van der Aa, Nathalie; Vandeweyer, Geert; Reyniers, Edwin; Mortier, Geert; Rooms, Liesbeth; Kooy, R. Frank] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium. [Van der Aa, Nathalie; Vandeweyer, Geert; Reyniers, Edwin; Kenis, Sandra; Mortier, Geert; Rooms, Liesbeth; Kooy, R. Frank] Univ Antwerp Hosp, Antwerp, Belgium. [Kenis, Sandra] Univ Antwerp, Dept Neurol Childneurol, B-2020 Antwerp, Belgium. [Dom, Lina] Paola Kinderziekenhuis, Dept Pediat Neurol, Berchem, Belgium. 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TI Glutathione-Related Factors and Oxidative Stress in Autism, A Review SO CURRENT MEDICINAL CHEMISTRY LA English DT Review DE Autism; oxidative stress; glutathione; treatment; inflammation; methylation; sulfate ID SPECTRUM DISORDERS; METABOLIC BIOMARKERS; MITOCHONDRIAL DYSFUNCTION; ENERGY-METABOLISM; SERUM-LEVELS; CHILDREN; ANTIOXIDANT; BRAIN; ASSOCIATION; ENZYMES AB Autism spectrum disorders are complex neuro-developmental disorders whose neurobiology is proposed to be associated with oxidative stress which is induced by reactive oxygen species. The process of oxidative stress can be a target for therapeutic interventions. In this study, we aimed to review the role of oxidative stress, plasma glutathione (GSH), and related factors as the potential sources of damage to the brain as well as the possible related factors which reduce the oxidative stress. Methylation capacity, sulfates level, and the total glutathione level are decreased in autism. On the other hand, both oxidized glutathione and the ratio of oxidized to reduced glutathione are increased in autism. In addition, the activity of glutathione peroxidase, superoxide dismutase, and catalase, as a part of the antioxidative stress system are decreased. The current literature suggests an imbalance of oxidative and anti-oxidative stress systems in autism. Glutathione is involved in neuro-protection against oxidative stress and neuro-inflammation in autism by improving the anti-oxidative stress system. Decreasing the oxidative stress might be a potential treatment for autism. C1 [Ghanizadeh, A.] Hafez Hosp, Dept Psychiat, Res Ctr Psychiat & Behav Sci, Shiraz, Iran. [Ghanizadeh, A.; Firoozabadi, A.] Shiraz Univ Med Sci, Sch Med, Dept Psychiat, Shiraz, Iran. [Akhondzadeh, S.] Univ Tehran Med Sci, Roozbeh Psychiat Hosp, Psychiat Res Ctr, Tehran 13337, Iran. [Hormozi, M.] Fasa Univ Med Sci, Student Res Comm, Fasa, Iran. 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The two boys had variable degrees of developmental delay. One had macrocephaly, significant expressive speech delay and constipation. The other brother had normocephaly, obsessional tendencies and was diagnosed with high functioning autism. The phenotypically normal mother had 100% skewed X-inactivation. Our cases expand the phenotype seen with UPF3B mutations and highlight the variability within families. (c) 2012 Elsevier Masson SAS. All rights reserved. C1 [Lynch, Sally Ann; Ng, Li Yen] Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin 12, Ireland. [Lam Son Nguyen; Gecz, Jozef] Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA 5001, Australia. [Gecz, Jozef] Womens & Childrens Hosp, SA Pathol, Adelaide, SA 5006, Australia. [McDonald, Denise] AMNCH Hosp Tallaght, Dublin 24, Ireland. RP Lynch, SA (reprint author), Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin 12, Ireland. 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We developed a novel method using singular value decomposition (SVD) normalization to discover rare genic copy number variants (CNVs) as well as genotype copy number polymorphic (CNP) loci with high sensitivity and specificity from exome sequencing data. We estimate the precision of our algorithm using 122 trios (366 exomes) and show that this method can be used to reliably predict (94% overall precision) both de novo and inherited rare CNVs involving three or more consecutive exons. We demonstrate that exome-based genotyping of CNPs strongly correlates with whole-genome data (median r(2) = 0.91), especially for loci with fewer than eight copies, and can estimate the absolute copy number of multi-allelic genes with high accuracy (78% call level). 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Gadd45b is abnormally expressed in subjects with autism and psychosis, two disorders associated with cognitive deficits. Furthermore, several high-throughput screens have identified Gadd45b as a candidate plasticity-related gene. However, a direct demonstration of a link between Gadd45b and memory has not been established. The current studies first determined whether expression of the Gadd45 family of genes was affected by contextual fear conditioning. Gadd45b, and to a lesser extent Gadd45g, were up-regulated in the hippocampus following contextual fear conditioning, whereas Gadd45a was not. Next, Gadd45b knockout mice were tested for contextual and cued fear conditioning. Gadd45b knockout mice exhibited a significant deficit in long-term contextual fear conditioning; however, they displayed normal levels of short-term contextual fear conditioning. No differences between Gadd45b knockout and wild-type mice were observed in cued fear conditioning. Because cued fear conditioning is hippocampus independent, while contextual fear conditioning is hippocampus dependent, the current studies suggest that Gadd45b may be important for long-term hippocampus-dependent memory storage. Therefore, Gadd45b may be a novel therapeutic target for the cognitive deficits associated with many neurodevelopmental, neurological, and psychiatric disorders. C1 [Leach, Prescott T.; Gould, Thomas J.] Temple Univ, Dept Psychol, Neurosci Program, Philadelphia, PA 19122 USA. [Poplawski, Shane G.; Abel, Ted] Univ Penn, Dept Biol, Dept Pharmacol, Philadelphia, PA 19104 USA. [Kenney, Justin W.] Univ Southampton, Sch Biol Sci, Southampton S017 1BJ, Hants, England. [Hoffman, Barbara; Liebermann, Dan A.] Temple Univ, Fels Inst Canc Res & Mol Biol, Sch Med, Philadelphia, PA 19140 USA. RP Gould, TJ (reprint author), Temple Univ, Dept Psychol, Neurosci Program, Philadelphia, PA 19122 USA. EM tgould@temple.edu FU National Institute on Drug Abuse [DA017949]; National Institute of Mental Health [MH087463]; NIH-NIDA training grant [DA07237]; [GM008076] FX This work was funded with grant support from the National Institute on Drug Abuse (T.J.G., DA017949) and the National Institute of Mental Health (T.A., MH087463). P.T.L. and J.W.K. were supported by NIH-NIDA training grant DA07237 and S.G.P. was supported by training grant GM008076. We thank Josh Hawk for his assistance in tissue collections, and Kristy A. Cordero and Leonardo A. Ortega for their help with breeding, colony maintenance, and genotyping. We also thank Tatiana M. Kazdoba for reading and commenting on early drafts of this manuscript. 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Mem. PD AUG PY 2012 VL 19 IS 8 BP 319 EP 324 DI 10.1101/lm.024984.111 PG 6 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 991LV UT WOS:000307703600002 PM 22802593 ER PT J AU Grandgeorge, M Tordjman, S Lazartigues, A Lemonnier, E Deleau, M Hausberger, M AF Grandgeorge, Marine Tordjman, Sylvie Lazartigues, Alain Lemonnier, Eric Deleau, Michel Hausberger, Martine TI Does Pet Arrival Trigger Prosocial Behaviors in Individuals with Autism? SO PLOS ONE LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; ANIMAL-ASSISTED THERAPY; SOCIAL-INTERACTION; DIAGNOSTIC INTERVIEW; FACILITATED THERAPY; SPECTRUM DISORDERS; EARLY RECOGNITION; JOINT ATTENTION; CHILDREN; OWNERSHIP AB Alteration of social interactions especially prosocial behaviors - an important aspect of development - is one of the characteristics of autistic disorders. Numerous strategies or therapies are used to improve communication skills or at least to reduce social impairments. Animal-assisted therapies are used widely but their relevant benefits have never been scientifically evaluated. In the present study, we evaluated the association between the presence or the arrival of pets in families with an individual with autism and the changes in his or her prosocial behaviors. Of 260 individuals with autism - on the basis of presence or absence of pets - two groups of 12 individuals and two groups of 8 individuals were assigned to: study 1 (pet arrival after age of 5 versus no pet) and study 2 (pet versus no pet), respectively. Evaluation of social impairment was assessed at two time periods using the 36-items ADI-R algorithm and a parental questionnaire about their child-pet relationships. The results showed that 2 of the 36 items changed positively between the age of 4 to 5 (t(0)) and time of assessment (t(1)) in the pet arrival group (study 1): "offering to share" and "offering comfort". Interestingly, these two items reflect prosocial behaviors. There seemed to be no significant changes in any item for the three other groups. The interactions between individuals with autism and their pets were more - qualitatively and quantitatively - reported in the situation of pet arrival than pet presence since birth. These findings open further lines of research on the impact of pet's presence or arrival in families with an individual with autism. Given the potential ability of individuals with autism to develop prosocial behaviors, related studies are needed to better understand the mechanisms involved in the development of such child-pet relationship. C1 [Grandgeorge, Marine; Lazartigues, Alain; Lemonnier, Eric] CHRU Brest, Hop Bohars, Ctr Ressources Autisme, Bohars, France. [Grandgeorge, Marine; Hausberger, Martine] CNRS, UMR 6552, Lab Ethol Anim & Humaine, Rennes, France. [Tordjman, Sylvie] CHRU Guillaume Regnier, Rennes, France. [Deleau, Michel] Ctr Rech Psychol Cognit & Commun, Rennes, France. RP Grandgeorge, M (reprint author), CHRU Brest, Hop Bohars, Ctr Ressources Autisme, Bohars, France. EM marine.grandgeorge@chu-brest.fr FU Adrienne and Pierre Sommer Foundation; Fondation Sommer FX The Adrienne and Pierre Sommer Foundation gave the financial support for this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The authors declare that they have no financial interests.We are thankful to Dr. Ann Cloarec, researcher, Ethos laboratory and Zarrin Alavi, (for her pertinent advice) medical writer and translator, Brest University Hospital, Department of Internal Medicine and Chest Diseases; INSERM CIC 0502, to Pr Michel Botbol, CHRU Brest, to families for their participation, to the Fondation Sommer for their support and the French GIS CCS (Groupe d'Interet Scientifique - Comportement Cerveau et Societe) CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Anastasi A., 1988, PSYCHOL TESTING ANDERSON WP, 1992, MED J AUSTRALIA, V157, P298 Bailey C, 1988, DISS ABSTR INT, V48 Baranek GT, 1999, J AUTISM DEV DISORD, V29, P213, DOI 10.1023/A:1023080005650 Barker SB, 2008, J VET MED EDUC, V35, P487, DOI 10.3138/jvme.35.4.487 BARONCOHEN S, 1985, COGNITION, V21, P37, DOI 10.1016/0010-0277(85)90022-8 Baron-Cohen Simon, 1995, MINDBLINDNESS ESSAY Bass M, 2009, J AUTISM DEV DISORD, V39, P1261, DOI 10.1007/s10803-009-0734-3 Beck AM, 1996, ANNU REV PUBL HEALTH, V17, P247, DOI 10.1146/annurev.pu.17.050196.001335 BECK AM, 1984, J AM VET MED ASSOC, V184, P414 Beck AM, 2001, ANTHROZOOS, V14, P19 Blue GF, 1986, CHILDHOOD ED, V63, P84 BRICKEL CM, 1982, PSYCHOL REP, V50, P71 BRUNER JS, 1972, AM PSYCHOL, V27, P687, DOI 10.1037/h0033144 Bryant B, 1986, RELEVANCE FAMILY NEI Bryant B. 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Dichter, Gabriel S. Bodfish, James W. TI Affective Responses by Adults with Autism Are Reduced to Social Images but Elevated to Images Related to Circumscribed Interests SO PLOS ONE LA English DT Article ID CONGENITAL ADRENAL-HYPERPLASIA; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; CIRCUMPLEX MODEL; YOUNG-CHILDREN; REPETITIVE BEHAVIOR; JOINT ATTENTION; HIGH-IQ; GAZE; EMOTION AB Individuals with autism spectrum disorders (ASD) demonstrate increased visual attention and elevated brain reward circuitry responses to images related to circumscribed interests (CI), suggesting that a heightened affective response to CI may underlie their disproportionate salience and reward value in ASD. To determine if individuals with ASD differ from typically developing (TD) adults in their subjective emotional experience of CI object images, non-CI object images and social images, 213 TD adults and 56 adults with ASD provided arousal ratings (sensation of being energized varying along a dimension from calm to excited) and valence ratings (emotionality varying along dimension of approach to withdrawal) for a series of 114 images derived from previous research on CI. The groups did not differ on arousal ratings for any image type, but ASD adults provided higher valence ratings than TD adults for CI-related images, and lower valence ratings for social images. Even after co-varying the effects of sex, the ASD group, but not the TD group, gave higher valence ratings to CI images than social images. These findings provide additional evidence that ASD is characterized by a preference for certain categories of non-social objects and a reduced preference for social stimuli, and support the dissemination of this image set for examining aspects of the circumscribed interest phenotype in ASD. C1 [Sasson, Noah J.] Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75083 USA. [Dichter, Gabriel S.; Bodfish, James W.] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC USA. RP Sasson, NJ (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75083 USA. EM nsasson@utdallas.edu FU National Institute of Mental Health [2R01MH073402, K23 MH081285]; Participant Registry Core of the UNC Carolina Institute for Developmental Disabilities [P30 HD03110] FX This research was supported by National Institute of Mental Health 2R01MH073402 (Bodfish & Dichter), National Institute of Mental Health K23 MH081285 (Dichter), and the Participant Registry Core of the UNC Carolina Institute for Developmental Disabilities (P30 HD03110). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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TI Fiction, imagination, and social cognition: Insights from autism SO POETICS LA English DT Article DE Fiction; Theory of mind; Imagination; Autism ID HIGH-FUNCTIONING AUTISM; NORMALLY DEVELOPING-CHILDREN; ASPERGER-SYNDROME; SPECTRUM DISORDERS; WEAK COHERENCE; NORMAL ADULTS; PRETEND PLAY; MIND; INDIVIDUALS; QUOTIENT AB Some scholars have suggested that fiction builds upon our capacity for daydreaming and imagination, while others have proposed that it appeals to our capacity for getting inside the minds of others. However, very little research has investigated the way that individuals with deficits in imagination and social cognition view and develop preferences for fiction. Here, 1 review research on one such population: individuals with autism spectrum conditions (ASC) and present an experiment that investigates fiction preferences in ASC. As a whole, this work suggests that both fictionality and social content may play an important role in the appeal of fiction-and that the scientific study of fiction could benefit by taking into account the perspectives of individuals who view the world in different ways. (C) 2012 Elsevier B.V. All rights reserved. C1 Univ Oklahoma, Dept Psychol, Norman, OK 73019 USA. RP Barnes, JL (reprint author), Univ Oklahoma, Dept Psychol, 455 Lindsey St,Dale Hall Tower,Room 705, Norman, OK 73019 USA. 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El Mostarchid, B. Akhaddar, A. Gazzaz, M. Boucetta, M. TI Neuro-encephalic features of tuberous sclerosis complex SO REVUE DE MEDECINE INTERNE LA French DT Article DE Neuro-encephalic disorders; Cerebral magnetic resonance imaging; Tuberous sclerosis ID INFANTILE SPASMS; CONSENSUS CONFERENCE; DIAGNOSTIC-CRITERIA; CHILDREN; EPILEPSY; SEIZURE; AUTISM AB Tuberous sclerosis is a phacomatosis resulting from an autosomal dominant inheritance. It is characterized by the presence of multiple hamartomas in various organs, especially the brain, the skin, the kidneys and the heart. The diagnosis of tuberous sclerosis is based on imaging and clinical examination, where magnetic resonance imaging constitutes the key investigation showing characteristic brain lesions. Neuro-encephalic manifestations may be particularly severe, and may even be life threatening. The authors report personal cases series and review the literature highlighting epidemiology, clinical features and imaging of neuro-encephalic tuberous sclerosis. (C) 2012 Societe nationale francaise de medecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved. C1 [Belfquih, H.; El Mostarchid, B.; Akhaddar, A.; Gazzaz, M.; Boucetta, M.] Hop Mil Instruct Mohamed V, Serv Neurochirurg, Rabat, Morocco. RP Belfquih, H (reprint author), Hop Mil Instruct Mohamed V, Serv Neurochirurg, Rabat, Morocco. 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Med. Interne PD AUG PY 2012 VL 33 IS 8 BP 433 EP 438 DI 10.1016/j.revmed.2012.04.001 PG 6 WC Medicine, General & Internal SC General & Internal Medicine GA 983CC UT WOS:000307092800004 PM 22658530 ER PT J AU Johnson, CR Turner, KS Foldes, EL Malow, BA Wiggs, L AF Johnson, Cynthia R. Turner, Kylan S. Foldes, Emily L. Malow, Beth A. Wiggs, Luci TI Comparison of sleep questionnaires in the assessment of sleep disturbances in children with autism spectrum disorders SO SLEEP MEDICINE LA English DT Article DE Autism spectrum disorder; Sleep disturbance; Sleep disturbances; Sleep questionnaires; Children's Sleep Habits Questionnaire; Modified Simonds & Parraga Sleep; Questionnaire ID PERVASIVE DEVELOPMENTAL DISORDERS; SEVERE LEARNING-DISABILITIES; PSYCHOMETRIC PROPERTIES; HABITS QUESTIONNAIRE; BEHAVIORS; PATTERNS; ADOLESCENTS; PREVALENCE AB Background and purpose: The purpose of this study was to compare two parent completed questionnaires, the Modified Simonds & Parraga Sleep Questionnaire (MSPSQ) and the Children's Sleep Habits Questionnaire (CSHQ), used to characterize sleep disturbances in young children with autism spectrum disorders (ASD). Both questionnaires have been used in previous work in the assessment and treatment of children with ASD and sleep disturbance. Participants and methods: Parents/caregivers of a sample of 124 children diagnosed with ASD with an average age of six years completed both sleep questionnaires regarding children's sleep behaviors. Internal consistency of the items for both measures was evaluated as well as the correlation between the two sleep measures. A Receiver Operating Characteristics (ROC) curve analysis was also conducted to examine the predictive power of the MSPSQ. Results: More than three quarters of the sample (78%) were identified as poor sleepers on the CSHQ. Cronbach's alpha for the items on the CSHQ was 0.68 and Cronbach's alpha for items on the MSPSQ was 0.67. The total scores for MSPSQ and CSHQ were significantly correlated (r = .70, p < .01). After first identifying the poor sleepers based on the CSHQ, an area under the curve was 0.89 for the MSPSQ. Using a cut off score of 56 on the MSPSQ, sensitivity was .86 and specificity was .70. Conclusions: In this sample of children with ASD, sleep disturbances were common across all cognitive levels. Preliminary findings suggest that, similar to the CSHQ, the MSPSQ has adequate internal consistency. The two measures were also highly correlated. A preliminary cut off of 56 on the MSPSQ offers high sensitivity and specificity commensurate with the widely used CSHQ. (C) 2012 Elsevier B.V. All rights reserved. C1 [Johnson, Cynthia R.; Turner, Kylan S.; Foldes, Emily L.] Univ Pittsburgh, Sch Med, Pittsburgh, PA 15213 USA. [Malow, Beth A.] Vanderbilt Univ, Dept Neurology, Sleep Disorders Div, Nashville, TN 37235 USA. [Wiggs, Luci] Oxford Brookes Univ, Dept Psychol, Oxford OX3 0BP, England. RP Johnson, CR (reprint author), Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, Autism Ctr, 3420 5th Ave, Pittsburgh, PA 15213 USA. EM Cynthia.Johnson@chp.edu FU National Institute of Mental Health [R34 MH082882-01A2]; Autism Speaks (Autism Treatment Network); Autism Service, Education, a Research and Training (ASERT) Grant from the Pennsylvania Bureau of Autism Services; Department of Public Welfare; National Institute for Research Resources [2ULRR024153-06] FX This study was supported by funding from a National Institute of Mental Health (R34 MH082882-01A2) award to the first author, Autism Speaks (Autism Treatment Network), Autism Service, Education, a Research and Training (ASERT) Grant from the Pennsylvania Bureau of Autism Services, Department of Public Welfare, and the National Institute for Research Resources (2ULRR024153-06). 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PD AUG PY 2012 VL 13 IS 7 BP 795 EP 801 DI 10.1016/j.sleep.2012.03.005 PG 7 WC Clinical Neurology SC Neurosciences & Neurology GA 992AL UT WOS:000307747000005 PM 22609024 ER PT J AU Waite, A Brown, SC Blake, DJ AF Waite, Adrian Brown, Susan C. Blake, Derek J. TI The dystrophin-glycoprotein complex in brain development and disease SO TRENDS IN NEUROSCIENCES LA English DT Review DE muscular dystrophy; dystrophin; dystroglycan; cognitive impairment; neuronal migration; dystonia ID DUCHENNE MUSCULAR-DYSTROPHY; FUKUTIN-RELATED PROTEIN; MYOCLONUS-DYSTONIA SYNDROME; DEFICIENT MDX MICE; CEREBELLAR PURKINJE-CELLS; AUTISM SPECTRUM DISORDER; CENTRAL-NERVOUS-SYSTEM; EPSILON-SARCOGLYCAN; INHIBITORY SYNAPSES; MENTAL-RETARDATION AB In addition to muscle disease, defects in processing and assembly of the dystrophin-glycoprotein complex (DGC) are associated with a spectrum of brain abnormalities ranging from mild cognitive impairment (MCI) to neuronal migration disorders. In brain, the DGC is involved in the organisation of GABA(A) receptors (GABA(A)Rs) and aquaporin-4 (AQP4)-containing protein complexes in neurons and glia, respectively. During development, defects in the glycosylation of alpha-dystroglycan that impair its ability to interact with the extracellular matrix (ECM) are frequently associated with cobblestone lissencephaly and mental retardation. Furthermore, mutations in the gene encoding epsilon-sarcoglycan (SGCE) cause the neurogenic movement disorder myoclonus dystonia syndrome. In this review, we describe recent progress in defining distinct roles for the DGC in neurons and glia. C1 [Waite, Adrian; Blake, Derek J.] Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF14 4XN, S Glam, Wales. [Brown, Susan C.] Univ London Royal Vet Coll, London NW1 0TU, England. RP Blake, DJ (reprint author), Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Heath Pk, Cardiff CF14 4XN, S Glam, Wales. EM blakedj@cardiff.ac.uk FU Medical Research Council FX Because of space constraints it has regrettably not been possible to cite all of the primary literature in this review. The work was generously supported by a studentship from the Medical Research Council (to A.W.). We thank Dr Mark Ackroyd for providing the images used in Figure 3b,c. 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PD AUG PY 2012 VL 35 IS 8 BP 487 EP 496 DI 10.1016/j.tins.2012.04.004 PG 10 WC Neurosciences SC Neurosciences & Neurology GA 990HW UT WOS:000307622600004 PM 22626542 ER PT J AU Karvat, G Kimchi, T AF Karvat, Golan Kimchi, Tali TI Systematic autistic-like behavioral phenotyping of 4 mouse strains using a novel wheel-running assay SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Autism; BTBR; Nlgn3; Sociability; Cognitive rigidity; Running wheel ID T PLUS TF/J; DEFICIT HYPERACTIVITY DISORDER; BTBR-T+TF/J MICE; INBRED STRAINS; C57BL/6J MICE; SOCIAL-BEHAVIOR; ACETYLCHOLINE OUTPUT; SPECTRUM DISORDERS; FOOD-DEPRIVATION; TASKS RELEVANT AB Three core symptoms of autistic spectrum disorders are stereotypic movements, resistance to change in routines and deficits in social interaction. In order to understand their neuronal mechanisms, there is a dire need for behavioral paradigms to assess those symptoms in rodents. Here we present a novel method which is based on positive reward in a customized wheel-running apparatus to assess these symptoms. As a proof of concept, 4 mouse strains were tested in the new behavioral paradigm; 2 control lines (C57BL/6 and ICR) and 2 mouse-models of autism (BTBR T+ tf/J and Nlgn3(tm1sud)) We found that the C57BL/6. ICR and Nlgn3(tm1sud) mice showed a significant reduction in stereotypical behavior in the presence of the running wheel, ability to forfeit the running habit when the running-wheel was jammed, and preference of interacting with a social stimulus over the jammed running-wheel. No difference was found between genotypes of the Nlgn3(tm1sud) mice. On the other hand, the BTBR mice exhibited persistent, elevated levels of stereotypical behavior. In addition, they presented a deficit in their ability to adjust to a changing environment, as manifested in persistence to interact with the wheel even when it was jammed. Lastly, the BTBR mice exhibited no significant preference to interact with the stranger mouse over the jammed running-wheel. These results were validated by a set of commonly used behavioral tests. Overall, our novel behavioral paradigm detects multiple components of autistic-like phenotypes, including cognitive rigidity, stereotypic behavior and social deficiency. (C) 2012 Elsevier B.V. All rights reserved. C1 [Karvat, Golan; Kimchi, Tali] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel. RP Kimchi, T (reprint author), Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel. 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TI Toward a better understanding of the savant brain SO COMPREHENSIVE PSYCHIATRY LA English DT Article ID MILD COGNITIVE IMPAIRMENT; AUTISM SPECTRUM DISORDER; EARLY ALZHEIMERS-DISEASE; WHITE-MATTER; YOUNG-CHILDREN; FRONTOTEMPORAL DEMENTIA; MEMORY PERFORMANCE; ASPERGER-SYNDROME; CORPUS-CALLOSUM; CAUDATE-NUCLEUS AB Objective: The objectives of this study are to investigate the neuroanatomy, regional brain connectivity, and neurochemistry of a prodigious artistic savant; to place these findings within the context of existing neuroimaging literature of savant syndrome; and to discuss the utility of newer imaging modalities to extend our current understanding of mechanisms underlying savant skills. Methods: High-resolution magnetic resonance (MR) imaging, J-resolved MR spectroscopy, and diffusion tensor imaging data were acquired during a single scanning session for a 63-year-old male autistic savant with prodigious artistic skills. Regional and compartmental brain volumes, N-acetyl aspartate, choline, creatine, glutamate and gamma-aminobutyric acid concentrations, fractional anisotropy values, and white matter bundle volumes as well as axial, radial, and mean diffusivities were calculated. Results: No gross anatomical differences were observed. By morphological assessment, cerebral volume (1362 mL) was larger than normative literature values for adult males. The corpus callosum was intact and did not exhibit abnormal structural features. The right cerebral hemisphere was 1.9% larger than the left hemisphere; the right amygdala and right caudate nuclei were 24% and 9.9% larger, respectively, compared with the left side. In contrast, the putamen was 8.3% larger on the left side. Fractional anisotropy was increased on the right side as compared with the left for 4 of the 5 bilateral regions studied (the amygdala, caudate, frontal lobe, and hippocampus). Fiber tract bundle volumes were larger on the right side for the amygdala, hippocampus, frontal lobe, and occipital lobe. Both the left and the right hippocampi had substantially increased axial and mean diffusivities as compared with those of a comparison sample of nonsavant adult males. The corpus callosum and left amygdala also exhibited high axial, radial, and mean diffusivities. MR spectroscopy revealed markedly decreased gamma-aminobutyric acid and glutamate in the parietal lobe. Conclusions: Although examination of brain gross morphometry demonstrated no clinically remarkable abnormalities, utilization of conventional as well as newer MR imaging technologies revealed several atypical structural and chemical features that may be involved in the special skills of this prodigious savant. The multimodal imaging approach presented in this study is suitable for the evaluation of larger samples of savants with a diverse range of talents to investigate common brain features that may underlie the exceptional cognitive capabilities characteristic of savant syndrome. Given the high co-occurrence of the two syndromes, elucidating the underlying neurophysiologic basis of savant syndrome may also lead to a better understanding of autism spectrum disorder. (C) 2012 Elsevier Inc. All rights reserved. C1 [Corrigan, Neva M.; Richards, Todd L.; Dager, Stephen R.] Univ Washington, Dept Radiol, Seattle, WA 98195 USA. [Treffert, Darold A.] Univ Wisconsin, Sch Med, Madison, WI 54935 USA. [Dager, Stephen R.] Univ Washington, Autism Ctr, Seattle, WA 98195 USA. [Dager, Stephen R.] Univ Washington, Dept Bioengn, Seattle, WA 98195 USA. RP Corrigan, NM (reprint author), Univ Washington, Dept Radiol, Seattle, WA 98195 USA. EM nevao@u.washington.edu FU National Institutes of Health [1P50 HD055782] FX This study was supported by National Institutes of Health grant 1P50 HD055782. 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We developed a rating scale intended to evaluate social responsiveness through handshaking, in patients with ASD. Method: A group of patients with ASD (n = 20), aged 9 to 18 years, was compared with 2 age-matched groups, one of patients with attention deficit/hyperactivity disorder (n = 20) and the other is of patients with mild (IQ, 55-70) mental retardation (n = 20). To rate the handshaking behavior, we designed a Handshaking Assessment Scale (HAS) that includes 8 Yes/No items. The predefined cutoff point was a minimum of 4 "Yes" answers. Results: Significantly more patients with ASD (13/20) had abnormal HAS (Yes answers, >= 4) than either in the attention deficit/hyperactivity disorder group (1/20; P < .0001) or in the mental retardation group (5/20; P < .025). Conclusion: There seems to be a strong association between poor handshaking skills and autistic psychopathology, as compared with the 2 control groups. As was demonstrated by the brief and easy-to-administer HAS assessment tool, it may be advisable to use handshaking more widely as a diagnostic procedure for ASD or include it in larger diagnostic batteries. Large-scale studies are needed to substantiate our observation. (C) 2012 Elsevier Inc. All rights reserved. C1 [Golubchik, Pavel; Sever, Jonathan; Katz, Nachum; Shoval, Gal; Weizman, Abraham] Geha Mental Hlth Ctr, IL-49100 Petah Tiqwa, Israel. [Golubchik, Pavel; Sever, Jonathan; Katz, Nachum; Shoval, Gal; Weizman, Abraham] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel. [Weizman, Abraham] Tel Aviv Univ, Sackler Fac Med, Felsenstein Med Res Ctr, IL-49100 Petah Tiqwa, Israel. RP Golubchik, P (reprint author), Geha Mental Hlth Ctr, Child & Adolescent Outpatient Clin, POB 102, IL-49100 Petah Tiqwa, Israel. 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The interaction between race and disability status indicated that disparities in quality indicators were exacerbated among families of children with autism. These analyses suggest that children with autism, particularly those who are Latino and Black, face greater challenges in receiving high-quality C1 [Magana, Sandra] Univ Wisconsin Madison, Waisman Ctr, Madison, WI 53705 USA. [Parish, Susan L.; Timberlake, Maria] Brandeis Univ, Waltham, MA USA. [Rose, Roderick A.; Swaine, Jamie G.] Univ N Carolina, Chapel Hill, NC USA. [Magana, Sandra] Univ Wisconsin Madison, Sch Social Work, Madison, WI 53705 USA. RP Magana, S (reprint author), Univ Wisconsin Madison, Waisman Ctr, 1500 Highland Ave, Madison, WI 53705 USA. 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Dev. Disabil. PD AUG PY 2012 VL 50 IS 4 BP 287 EP 299 DI 10.1352/1934-9556-50.4.287 PG 13 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 985YV UT WOS:000307307300001 PM 22861130 ER PT J AU Golnik, A Maccabee-Ryaboy, N Scal, P Wey, A Gaillard, P AF Golnik, Allison Maccabee-Ryaboy, Nadia Scal, Peter Wey, Andrew Gaillard, Philippe TI Shared Decision Making: Improving Care for Children with Autism SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE autism; shared decision making; primary care; medical home ID SPECTRUM DISORDERS; MEDICAL HOME; PATIENT SATISFACTION; ALTERNATIVE MEDICINE; NATIONAL-SURVEY; FAMILY STRESS; PATIENTS WANT; OUTCOMES; PARENTS; HEALTH AB We assessed the extent to which parents of children with autism spectrum disorder report that they are engaged in shared decision making. We measured the association between shared decision making and (a) satisfaction with care, (b) perceived guidance regarding controversial issues in autism spectrum disorder, and (c) perceived assistance navigating the multitude of treatment options. Surveys assessing primary medical care and decision-making processes were developed on the basis of the U. S. Department of Health and Human Service's Consumer Assessment of Healthcare Providers and Systems survey. In May 2009, after pilot testing, we sent surveys to 203 parents of children from ages 3 to 18 with International Classification of Diseases-9 and parent-confirmed autism spectrum disorder diagnoses. The response rate was 64%. Controlling for key demographic variables, parents of children with autism spectrum disorder reporting higher levels of shared decision making reported significantly greater satisfaction with the overall quality of their child's health care (p <= .0001). Parents reporting higher levels of shared decision making were also significantly more likely to report receiving guidance on the many treatment options (p = .0002) and controversial issues related to autism spectrum disorder (p = .0322). In this study, shared decision making was associated with higher parent satisfaction and improved guidance regarding treatments and controversial issues within primary care for children with autism spectrum disorder. C1 [Golnik, Allison] Univ Minnesota, Dept Pediat, Div Gen Pediat, Minneapolis, MN 55414 USA. RP Golnik, A (reprint author), Univ Minnesota, Dept Pediat, Div Gen Pediat, 717 Delaware St SE,3rd Floor,Room 370E, Minneapolis, MN 55414 USA. 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Beaton, Derek Abdi, Herve Kohler, Christian G. Penn, David L. TI Qualitatively Distinct Factors Contribute to Elevated Rates of Paranoia in Autism and Schizophrenia SO JOURNAL OF ABNORMAL PSYCHOLOGY LA English DT Article DE paranoia; discriminant correspondence analysis; cynicism; social cognition ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; SOCIAL-COGNITION; NONCLINICAL POPULATION; PERSECUTORY DELUSIONS; DIAGNOSTIC INTERVIEW; GENERAL-POPULATION; MIND; BELIEFS; SELF AB A converging body of clinical and empirical reports indicates that autism features elevated rates of paranoia comparable to those of individuals with paranoid schizophrenia. However, the distinct developmental courses and symptom manifestations of these two disorders suggest that the nature of paranoid ideation may differ between them in important and meaningful ways. To evaluate this hypothesis, we compared patterns of responses on the Paranoia Scale between actively paranoid individuals with schizophrenia (SCZP), individuals with schizophrenia who were not actively paranoid (SCZNP), adults with an Autism Spectrum Disorder (ASD), and healthy controls. Despite an overall similar level of heightened paranoia in the ASD and SCZP groups, discriminant correspondence analysis (DiCA) revealed that these groups were characterized by unique underlying factors. Paranoia in the SCZP group was defined by a factor based upon victimization, suspicion, and threat of harm. Whereas paranoia in the ASD group was partially characterized by this factor, it was distinguished from SCZP by an additional pattern of responses reflective of increased social cynicism. These findings indicate that paranoia in ASD is supported by qualitative factors distinct from schizophrenia and highlight mechanistic differences in the formation of paranoid ideation that may inform the development of disorder-specific treatments. C1 [Pinkham, Amy E.] So Methodist Univ, Dept Psychol, Dallas, TX 75275 USA. [Sasson, Noah J.; Beaton, Derek; Abdi, Herve] Univ Texas Dallas, Sch Behav & Brain Sci, Dallas, TX 75230 USA. [Kohler, Christian G.] Univ Penn, Sch Med, Dept Psychiat, Philadelphia, PA 19104 USA. [Penn, David L.] Univ N Carolina, Dept Psychol, Chapel Hill, NC USA. RP Pinkham, AE (reprint author), So Methodist Univ, Dept Psychol, POB 750442, Dallas, TX 75275 USA. 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K., 1974, MEASUREMENT CLASSIFI, V9 Wing L., 1996, AUTISTIC SPECTRUM GU Woodbury-Smith MR, 2010, J PSYCHIATR NEUROSCI, V35, P360, DOI [10.1503/jpn.100130, 10.1503/jpm.100130] Woods SW, 2003, J CLIN PSYCHIAT, V64, P663 Yirmiya N, 1998, PSYCHOL BULL, V124, P283, DOI 10.1037/0033-2909.124.3.283 NR 66 TC 3 Z9 3 PU AMER PSYCHOLOGICAL ASSOC PI WASHINGTON PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA SN 0021-843X EI 1939-1846 J9 J ABNORM PSYCHOL JI J. Abnorm. Psychol. PD AUG PY 2012 VL 121 IS 3 BP 767 EP 777 DI 10.1037/a0028510 PG 11 WC Psychology, Clinical; Psychology, Multidisciplinary SC Psychology GA 988IA UT WOS:000307482700022 PM 22686868 ER PT J AU Abramowicz, JS AF Abramowicz, Jacques S. TI Ultrasound and Autism Association, Link, or Coincidence? SO JOURNAL OF ULTRASOUND IN MEDICINE LA English DT Review DE autism; bioeffects; fetal ultrasound; obstetrics; safety ID PERVASIVE DEVELOPMENTAL DISORDERS; PERINATAL RISK-FACTORS; SPECTRUM DISORDERS; DIAGNOSTIC ULTRASOUND; PRENATAL ULTRASOUND; SUBSEQUENT HANDEDNESS; NEURONAL MIGRATION; NEONATAL FACTORS; PARENTAL AGE; PATERNAL AGE AB Autism spectrum disorders (ASDs) affect an estimated 1% of children in the United States. The etiology is probably multifactorial, including genetic components and exposure to infections, toxins, and other environmental factors, particularly unfavorable perinatal and neonatal conditions. There has been an increase in the frequency of diagnosis of ASDs over the last 20 years with a parallel increase in the use of obstetric diagnostic ultrasound, with prenatal ultrasound exposure mentioned as the possible main etiology for autism "epidemics." Central nervous system alterations have been described in ASDs, and certain similar changes have been described in animals after exposure to ultrasound. However, analysis of in utero exposure in humans has failed to show harmful effects in neonates or children, particularly in school performance, attention disorders, and behavioral changes. There is no independently confirmed peer-reviewed published evidence that a cause-effect relationship exists between in utero exposure to clinical ultrasound and development of ASDs in childhood. Ultrasound is a form of energy with effects in the tissues it traverses, and its use should be restricted to medical indications, by trained professionals, for as short a period and as low an intensity as compatible with accurate diagnosis. C1 [Abramowicz, Jacques S.] Rush Univ, Dept Obstet & Gynecol, Chicago, IL 60612 USA. [Abramowicz, Jacques S.] Rush Univ, Rush Fetal & Neonatal Med Ctr, Chicago, IL 60612 USA. 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Ultrasound Med. PD AUG PY 2012 VL 31 IS 8 BP 1261 EP 1269 PG 9 WC Acoustics; Radiology, Nuclear Medicine & Medical Imaging SC Acoustics; Radiology, Nuclear Medicine & Medical Imaging GA 981QS UT WOS:000306985100015 PM 22837291 ER PT J AU Arnold, GL Salazar, D Neidich, JA Suwannarat, P Graham, BH Lichter-Konecki, U Bosch, AM Cusmano-Ozog, K Enns, G Wright, EL Lanpher, BC Owen, NN Lipson, MH Cerone, R Levy, P Wong, LJC Dezsofi, A AF Arnold, Georgianne L. Salazar, Denise Neidich, Julie A. Suwannarat, Pim Graham, Brett H. Lichter-Konecki, Uta Bosch, Annet M. Cusmano-Ozog, Kristina Enns, Greg Wright, Erica L. Lanpher, Brendan C. Owen, Natalie N. Lipson, Mark H. Cerone, Roberto Levy, Paul Wong, Lee-Jun C. Dezsofi, Antal TI Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening SO MOLECULAR GENETICS AND METABOLISM LA English DT Article DE 3-Methylcrotonyl CoA carboxylase deficiency; Organic acidemia; Newborn screening ID 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY; SIBS AB Introduction: 3-Methyl CoA carboxylase (3-MCC) deficiency is an inborn error of metabolism in the catabolism of the amino acid leucine. Original reports suggested this disorder was associated with significant neurological and biochemical effects. However newborn screening has identified a higher than expected incidence of this disorder with apparent normal outcome in most cases. Method: A retrospective analysis of thirty-five cases of 3-MCC deficiency identified by newborn screening and diagnosed by enzyme or molecular analysis. Results: There was a strong inverse correlation between initial C5OH level and residual enzyme activity. A few reports of hypoglycemia, ketosis, poor feeding/failure to thrive or fasting intolerance were reported, but there was no clear relationship between symptoms and residual enzyme activity. Developmental outcome included several children with mental retardation (including one with Down syndrome and one with schizencephaly) and two with Autism Spectrum disorders but there was no apparent relationship to residual enzyme activity. Free carnitine deficiency was relatively common. Discussion: Although residual enzyme activity was clearly related to metabolite elevation, there was no apparent relationship with other measures of outcome. The number of reports of neurologic abnormalities or metabolic symptoms (poor feeding, hypoglycemia, fasting intolerance, etc.) is concerning, but the significance is unclear in this retrospective sample. (C) 2012 Elsevier Inc. All rights reserved. C1 [Arnold, Georgianne L.] Univ Pittsburgh, Dept Pediat, Med Ctr, Pittsburgh, PA 15260 USA. [Salazar, Denise] Quest Diagnost, San Juan Capistrano, CA USA. [Neidich, Julie A.] Ambry Genet, Aliso Viejo, CA USA. [Suwannarat, Pim] Kaiser Permanente San Francisco Med Ctr, San Francisco, CA USA. [Graham, Brett H.; Wong, Lee-Jun C.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Lichter-Konecki, Uta; Cusmano-Ozog, Kristina; Lanpher, Brendan C.] George Washington Univ, Dept Pediat, Childrens Natl Med Ctr, Washington, DC 20052 USA. [Bosch, Annet M.] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands. [Enns, Greg] Stanford Univ, Dept Pediat, Palo Alto, CA 94304 USA. [Wright, Erica L.] Univ Colorado, Med Ctr, Dept Pediat, Denver, CO 80202 USA. [Owen, Natalie N.] Monroe Carrell Jr Childrens Hosp Vanderbilt, Dept Pediat, Nashville, TN USA. [Lipson, Mark H.] Kaiser Permanente, Med Genet, Sacramento, CA USA. [Cerone, Roberto] G Gaslini Inst Children, Univ Dept Pediat, Genoa, Italy. 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A Multimodal Time-Series Analysis SO PSYCHOLOGY OF AESTHETICS CREATIVITY AND THE ARTS LA English DT Article DE cognitive and affective empathy; expressiveness; time-series analysis; music performance ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; ASPERGER-SYNDROME; PERFORMANCE; JUDGMENTS; RESONANCE; COMMUNICATION; PERSPECTIVE; RESPONSES; QUOTIENT AB Recent theories of empathy highlight perception-action components as a basis for automatic responses to perceived emotions. Since music is universally based on human actions and often elicits strong emotions, it was hypothesized that empathy influences audiovisual estimations of emotional expression. In this study, the performance and perception of a string quartet was investigated using time-series analyses. Quartet musicians rated video presentations of their own performance, resulting in relationships between visual-only and auditory-only judgments as well as acoustical intensity measures. 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PD AUG PY 2012 VL 6 IS 3 BP 214 EP 223 DI 10.1037/a0027392 PG 10 WC Humanities, Multidisciplinary; Psychology, Experimental SC Arts & Humanities - Other Topics; Psychology GA 987OW UT WOS:000307428000004 ER PT J AU Bracher, M AF Bracher, Mike TI Autism and Representation SO SOCIOLOGY-THE JOURNAL OF THE BRITISH SOCIOLOGICAL ASSOCIATION LA English DT Book Review C1 [Bracher, Mike] Univ Southampton, Sch Social Sci, Southampton SO17 1BJ, Hants, England. RP Bracher, M (reprint author), Univ Southampton, Sch Social Sci, Southampton SO17 1BJ, Hants, England. EM mb5v07@soton.ac.uk CR Osteen M, 2008, ROUTL RES CULT MEDIA, P1 NR 1 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 0038-0385 J9 SOCIOLOGY JI Sociol.-J. Brit. Sociol. Assoc. PD AUG PY 2012 VL 46 IS 4 BP 759 EP 766 PG 8 WC Sociology SC Sociology GA 987WN UT WOS:000307448700015 ER PT J AU Bracher, M AF Bracher, Mike TI Autism and the Edges of the Known World: Language, Sensitivities and Constructed Reality SO SOCIOLOGY-THE JOURNAL OF THE BRITISH SOCIOLOGICAL ASSOCIATION LA English DT Book Review C1 [Bracher, Mike] Univ Southampton, Sch Social Sci, Southampton SO17 1BJ, Hants, England. RP Bracher, M (reprint author), Univ Southampton, Sch Social Sci, Southampton SO17 1BJ, Hants, England. EM mb5v07@soton.ac.uk CR Bogdashina O., 2010, AUTISM EDGES KNOWN W NR 1 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 0038-0385 J9 SOCIOLOGY JI Sociol.-J. Brit. Sociol. Assoc. PD AUG PY 2012 VL 46 IS 4 BP 759 EP 766 PG 8 WC Sociology SC Sociology GA 987WN UT WOS:000307448700014 ER PT J AU Bracher, M AF Bracher, Mike TI Unstrange Minds: A Father Remaps the World of Autism SO SOCIOLOGY-THE JOURNAL OF THE BRITISH SOCIOLOGICAL ASSOCIATION LA English DT Book Review C1 [Bracher, Mike] Univ Southampton, Sch Social Sci, Southampton SO17 1BJ, Hants, England. RP Bracher, M (reprint author), Univ Southampton, Sch Social Sci, Southampton SO17 1BJ, Hants, England. EM mb5v07@soton.ac.uk CR Grinker R., 2008, UNSTRANGE MINDS FATH NR 1 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 0038-0385 J9 SOCIOLOGY JI Sociol.-J. Brit. Sociol. Assoc. PD AUG PY 2012 VL 46 IS 4 BP 759 EP 766 PG 8 WC Sociology SC Sociology GA 987WN UT WOS:000307448700013 ER PT J AU Fisher, B Dezort, C Nordli, DR Berg, AT AF Fisher, Breanne Dezort, Catherine Nordli, Douglas R. Berg, Anne T. TI Routine developmental and autism screening in an epilepsy care setting SO EPILEPSY & BEHAVIOR LA English DT Article DE Epilepsy; Children; Developmental delay; Autism; Screening; Co-morbidities; Comprehensive epilepsy care ID EPILEPTIFORM EEG ABNORMALITIES; CHILDHOOD-ONSET EPILEPSY; SPECTRUM DISORDERS; CRYPTOGENIC EPILEPSY; MODIFIED CHECKLIST; CHILDREN; SEIZURES; TODDLERS; AGE AB Developmental delay (delay) and co-morbidities like autism are common in children with epilepsy. We assessed the yield of routine screening for delay and autism in a hospital-based program. Parents completed developmental and autism screeners for 65 children (average age = 2.5 y; 38(58%) boys). Forty-nine (75%) were established epilepsy patients, and 16 (25%) were new patients. For development, 47 (72%) children screened positive and 8 (12%) had borderline results. Twenty-four (37%) scored positive for autism, all of whom also screened positive for developmental delay. Delays and neurologic deficits accounted for the positive autism results in 20 of the 24. Developmental findings were confirmatory (already receiving services) in 32/55 (58%) children and actionable in 17 (31%) (requiring further evaluation). Referrals for further evaluations were made for most with actionable findings. The yield of routine screening of children in a tertiary center is sufficiently high to support its use and to consider screening of all children seen with epilepsy. (C) 2012 Elsevier Inc. All rights reserved. C1 [Fisher, Breanne; Dezort, Catherine; Nordli, Douglas R.; Berg, Anne T.] Ann & Robert H Lurie Childrens Hosp Chicago, Epilepsy Ctr, Chicago, IL 60611 USA. [Nordli, Douglas R.; Berg, Anne T.] NW Univ Feinberg, Sch Med, Dept Pediat, Chicago, IL USA. RP Berg, AT (reprint author), Ann & Robert H Lurie Childrens Hosp Chicago, Epilepsy Ctr, 225 E Chicago Ave,Box 29, Chicago, IL 60611 USA. EM atberg@luriechildrens.org FU Shaw Research Grants in Nursing and Allied Health Professions FX This study was funded by the Shaw Research Grants in Nursing and Allied Health Professions (B. Fisher and C. Dezort). 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PD AUG PY 2012 VL 24 IS 4 BP 488 EP 492 DI 10.1016/j.yebeh.2012.06.006 PG 5 WC Behavioral Sciences; Clinical Neurology; Psychiatry SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry GA 980NO UT WOS:000306900300018 PM 22789633 ER PT J AU Kully-Martens, K Pei, J Job, J Rasmussen, C AF Kully-Martens, Katrina Pei, Jacqueline Job, Jenelle Rasmussen, Carmen TI Source Monitoring in Children With and Without Fetal Alcohol Spectrum Disorders SO JOURNAL OF PEDIATRIC PSYCHOLOGY LA English DT Article DE cognitive development; FASD; memory; prenatal alcohol exposure; source monitoring ID MEMORY; EXPOSURE; SCHIZOPHRENIA; FEATURES; AUTISM AB Objectives Deficits in memory are well-documented in children with fetal alcohol spectrum disorders (FASD); however, one aspect of memory not yet studied in children with FASD is source monitoring. This study examined overall source monitoring ability and performance profiles of children with FASD compared to controls. Method Participants included 19 children with FASD and 38 typically developing children (aged 6-12 years). Children were presented with auditory word lists and were required to recall the source of words for reality, external, and internal source monitoring tasks. Results Children with FASD showed poorer performance than controls across all three conditions in both recognition memory and memory for source. However, both groups exhibited a comparable pattern of performance across conditions. Specifically, performance was lowest on the internal task and highest on the reality task. Conclusions Information about source monitoring deficits further delineates the intricacies of memory deficits in FASD, and has implications for both assessment and intervention. C1 [Kully-Martens, Katrina; Rasmussen, Carmen] Univ Alberta, Dept Pediat, Edmonton, AB T6G 2M7, Canada. [Pei, Jacqueline; Job, Jenelle] Univ Alberta, Dept Educ Psychol, Edmonton, AB T6G 2M7, Canada. RP Rasmussen, C (reprint author), Glenrose Rehabil Hosp, E213C,10230-111 Ave, Edmonton, AB T5G 0B7, Canada. EM carmen@ualberta.ca CR Astley S. 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Charman, Tony TI Gender Bias, Female Resilience, and the Sex Ratio in Autism SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Editorial Material C1 [Constantino, John N.] Washington Univ, St Louis, MO 63130 USA. [Charman, Tony] Inst Educ, Ctr Res Autism & Educ, London, England. RP Constantino, JN (reprint author), 660 S Euclid,Campus Box 8134, St Louis, MO 63110 USA. EM constantino@wustl.edu RI Charman, Tony/A-2085-2014 OI Charman, Tony/0000-0003-1993-6549 CR Charman T, 2013, CHILD ADOL MENT H-UK, V18, P52, DOI 10.1111/j.1475-3588.2012.00664.x Constantino JN, 2011, PEDIATR RES, V69, p55R, DOI 10.1203/PDR.0b013e318212ec6e Constantino JN, 2010, AM J PSYCHIAT, V167, P1349, DOI 10.1176/appi.ajp.2010.09101470 Constantino JN, 2013, MOL PSYCHIATR, V18, P137, DOI 10.1038/mp.2012.9 Dworzynski K, 2012, J AM ACAD CHILD PSY, V51, P788, DOI 10.1016/j.jaac.2012.05.018 Giarelli E, 2010, DISABIL HEALTH J, V3, P107, DOI 10.1016/j.dhjo.2009.07.001 Goin-Kochel RP, 2007, AUTISM, V11, P279, DOI 10.1177/1362361307076857 Hall SS, 2010, J AM ACAD CHILD PSY, V49, P921, DOI 10.1016/j.jaac.2010.07.001 Russell G, 2011, SOC PSYCH PSYCH EPID, V46, P1283, DOI 10.1007/s00127-010-0294-z Sato D, 2012, AM J HUM GENET, V90, P879, DOI 10.1016/j.ajhg.2012.03.017 Virkud YV, 2009, AM J MED GENET B, V150B, P328, DOI 10.1002/ajmg.b.30810 NR 11 TC 12 Z9 12 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0890-8567 J9 J AM ACAD CHILD PSY JI J. Am. Acad. Child Adolesc. Psychiatr. PD AUG PY 2012 VL 51 IS 8 BP 756 EP 758 DI 10.1016/j.jaac.2012.05.017 PG 3 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 983OJ UT WOS:000307128300002 PM 22840545 ER PT J AU Kataoka, SH AF Kataoka, Sheryl H. TI Fixing a Broken System: The Story of Autism, One State at a Time SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Editorial Material C1 Univ Calif Los Angeles, Ctr Hlth Serv & Soc, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA. RP Kataoka, SH (reprint author), Univ Calif Los Angeles, Ctr Hlth Serv & Soc, Semel Inst Neurosci & Human Behav, 10920 Wilshire Blvd,Suite 300, Los Angeles, CA 90024 USA. EM skataoka@mednet.ucla.edu CR Centers for Medicare and Medicaid Services (CMS) ASD Services Project, 2011, REP STAT SERV IND AU Child and Adolescent Health Measurement Initiative, 2012, NAT PROF CHILDR SPEC Dawson G, 2010, PEDIATRICS, V125, pE17, DOI 10.1542/peds.2009-0958 Fritz GK, 2012, J AM ACAD CHILD PSY, V51, P458, DOI 10.1016/j.jaac.2012.02.003 Kasari C, 2012, J AM ACAD CHILD PSY, V51, P487, DOI 10.1016/j.jaac.2012.02.019 National Conference of State Legislatures, INS COV AUT NAT C ST Stein BD, 2012, J AM ACAD CHILD PSY, V51, P771, DOI 10.1016/j.jaac.2012.06.006 Young Margaret B., 2012, Morbidity and Mortality Weekly Report, V61, P1 United States Government Accountability Office, 2005, SPEC ED CHILDR AUT NR 9 TC 2 Z9 2 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0890-8567 J9 J AM ACAD CHILD PSY JI J. Am. Acad. Child Adolesc. Psychiatr. PD AUG PY 2012 VL 51 IS 8 BP 759 EP 761 DI 10.1016/j.jaac.2012.06.009 PG 3 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 983OJ UT WOS:000307128300003 PM 22840546 ER PT J AU Stein, BD Sorbero, MJ Goswami, U Schuster, J Leslie, DL AF Stein, Bradley D. Sorbero, Mark J. Goswami, Upasna Schuster, James Leslie, Douglas L. TI Impact of a Private Health Insurance Mandate on Public Sector Autism Service Use in Pennsylvania SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE autism; policy; services; medications; treatment costs ID BEHAVIORAL TREATMENT; SPECTRUM DISORDERS; YOUNG-CHILDREN; INTERVENTION; MEDICAID; COVERAGE AB Objective: Many states have implemented regulations (commonly referred to as waivers) to increase access to publicly insured services for autism spectrum disorders (ASD). In recent years, several states have passed legislation requiring improved coverage for ASD services by private insurers. This study examines the impact of such legislation on use of Medicaid-funded ASD services. Method: We used Medicaid claims data from July 1, 2006, through June 30, 2010, to identify children with ASD and to assess their use of behavioral health services and psychotropic medications. Service and medication use were examined in four consecutive 12-month periods: the 2 years preceding passage of the legislation, the year after passage but before implementation, and the year after implementation. We examined differences in use of services and medications, and used growth rates from nonwaiver children to estimate the impact of the legislation on Medicaid spending for waiver-eligible children with ASD. Results: The number of children with ASD receiving Medicaid services increased 20% from 2006-2007 to 2009-2010. The growth rate among children affected by the legislation was comparable to that of other groups before passage of the legislation but decreased after the legislation's passage. We project that, without the legislation, growth in this population would have been 46% greater in 2009-2010 than observed, associated with spending of more than $8 million in 2009-2010. Conclusions: Passage of legislation increasing private insurance coverage of ASD services may decrease the number of families seeking eligibility to obtain Medicaid-funded services, with an associated substantial decrease in Medicaid expenditures. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(8):771-779. C1 [Stein, Bradley D.; Goswami, Upasna] Univ Pittsburgh, Pittsburgh, PA 15260 USA. [Leslie, Douglas L.] Penn State Univ, Coll Med, University Pk, PA 16802 USA. RP Stein, BD (reprint author), RAND Corp, 4570 5th Ave,Suite 600, Pittsburgh, PA 15213 USA. FU Community Core Behavioral Health Organization FX This work was supported by the Community Core Behavioral Health Organization. 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Am. Acad. Child Adolesc. Psychiatr. PD AUG PY 2012 VL 51 IS 8 BP 771 EP 779 DI 10.1016/j.jaac.2012.06.006 PG 9 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 983OJ UT WOS:000307128300005 PM 22840548 ER PT J AU Dworzynski, K Ronald, A Bolton, P Happe, F AF Dworzynski, Katharina Ronald, Angelica Bolton, Patrick Happe, Francesca TI How Different Are Girls and Boys Above and Below the Diagnostic Threshold for Autism Spectrum Disorders? SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE autism spectrum disorder; gender differences; girls/females; diagnosis; autistic traits ID CAST CHILDHOOD ASPERGER; TWINS EARLY DEVELOPMENT; DIFFICULTIES QUESTIONNAIRE; INDIVIDUAL-DIFFERENCES; GENERAL-POPULATION; BEHAVIOR PROBLEMS; SEX-DIFFERENCES; LANGUAGE; TRAITS; EPIDEMIOLOGY AB Objective: This study aimed to explore sex differences in autistic traits in relation to diagnosis, to elucidate factors that might differentially impact whether girls versus boys meet diagnostic criteria for autism or a related autism spectrum disorder (ASD). Method: Data from a large population-based sample of children were examined. Girls and boys (aged 10-12 years) meeting diagnostic criteria for an ASD were compared with those failing to meet diagnostic criteria despite very high scores on a trait measure of ASD, the Childhood Autism Spectrum Test (CAST). information about behavioral difficulties as reported by teachers, and early estimates of intellectual functioning, were compared. Results: Girls, but not boys, meeting diagnostic criteria for ASD showed significantly more additional problems (low intellectual level, behavioral difficulties) than peers with similarly high CAST scores who did not meet diagnostic criteria. Conclusions: These data suggest that, in the absence of additional intellectual or behavioral problems, girls are less likely than boys to meet diagnostic criteria for ASD at equivalently high levels of autistic-like traits. This might reflect gender bias in diagnosis or genuinely better adaptation/compensation in girls. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(8):788-797. C1 [Dworzynski, Katharina] Royal Coll Physicians, Natl Clin Guideline Ctr, London, England. [Ronald, Angelica] Univ London, Genes Environm Lifespan GEL Lab, Ctr Brain & Cognit Dev, London WC1E 7HU, England. [Bolton, Patrick; Happe, Francesca] Kings Coll London, Inst Psychiat, Med Res Council Social Genet & Dev Psychiat MRC S, London, England. RP Happe, F (reprint author), Inst Psychiat PO80, MRC SGDP Ctr, DeCrespigny Pk, Denmark Hill, London SE5 8AF, England. EM francesca.happe@kcl.ac.uk RI Ronald, Angelica/C-7812-2009; Bolton, Patrick/E-8501-2010 OI Ronald, Angelica/0000-0002-9576-2176; Bolton, Patrick/0000-0002-5270-6262 FU MRC [G0500079, G0500870]; Autism Speaks fellowship; National Institutes of Health (NIH) FX The Twins Early Development Study (TEDS) is funded by an MRC program grant G0500079. This work was also supported by MRC program grant G0500870 (F.H., P.B.), an Autism Speaks fellowship (K.D., A.R.), and a National Institutes of Health (NIH) Research Senior Investigator Award (P.B.). 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Am. Acad. Child Adolesc. Psychiatr. PD AUG PY 2012 VL 51 IS 8 BP 788 EP 797 DI 10.1016/j.jaac.2012.05.018 PG 10 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 983OJ UT WOS:000307128300007 PM 22840550 ER PT J AU Schulte-Ruther, M Mainz, V Fink, GR Herpertz-Dahlmann, B Konrad, K AF Schulte-Ruether, Martin Mainz, Verena Fink, Gereon R. Herpertz-Dahlmann, Beate Konrad, Kerstin TI Theory of Mind and the Brain in Anorexia Nervosa: Relation to Treatment Outcome SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE anorexia nervosa; superior temporal cortex; social cognition; medial prefrontal cortex; theory of mind ID EATING-DISORDERS; SOCIAL ATTRIBUTION; ASPERGER-SYNDROME; BULIMIA-NERVOSA; AUTISM; COGNITION; ADOLESCENTS; COMORBIDITY; PREDICTORS; MECHANISMS AB Converging evidence suggests deficits in theory-of-mind (ToM) processing in patients with anorexia nervosa (AN). The present study aimed at elucidating the neural mechanisms underlying ToM-deficits in AN. Method: A total of 19 adolescent patients with AN and 21 age-matched controls were investigated using functional magnetic resonance imaging during performance of a ToM-task at two time points (in-patients: admission to hospital and discharge after weight recovery). Clinical outcomes in patients were determined 1 year after admission. Results: Irrespective of the time point, AN patients showed reduced activation in middle and anterior temporal cortex and in the medial prefrontal cortex. Hypoactivation in the medial prefrontal cortex at admission to hospital (T1) was correlated with clinical outcome at follow-up. Conclusions: Hypoactivation in the brain network supporting theory of mind may be associated with a social-cognitive endophenotype reflecting impairments of social functioning in anorexia nervosa which is predictive for a poor outcome at 1-year follow-up. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(8): 832-841. C1 [Schulte-Ruether, Martin] Res Ctr Julich, Inst Neurosci & Med INM 3, D-52425 Julich, Germany. [Schulte-Ruether, Martin] Univ Hosp Aachen UKA, Aachen, Germany. [Mainz, Verena; Fink, Gereon R.; Konrad, Kerstin] Res Ctr Julich, INM 3, D-52425 Julich, Germany. [Fink, Gereon R.] Univ Hosp Cologne, Cologne, Germany. [Herpertz-Dahlmann, Beate; Konrad, Kerstin] JARA Translat Brain Res, Julich, Germany. RP Schulte-Ruther, M (reprint author), Res Ctr Julich, Inst Neurosci & Med INM 3, D-52425 Julich, Germany. EM mschulte@ukaachen.de RI Schulte-Ruther, Martin /F-4784-2013; Konrad, Kerstin/H-7747-2013; Fink, Gereon/E-1616-2012 OI Schulte-Ruther, Martin /0000-0002-7198-9923; Konrad, Kerstin/0000-0001-9039-2615; Fink, Gereon/0000-0002-8230-1856 FU Bundesministerium fur Bildung und Forschung [BMBF 01GV0602]; Bundesministerium fur Bildung und Forschung; Deutsche Forschungsgemeinschaft; Vifor; Eli Lilly and Co.; Novartis; Medice FX This study was supported by the Bundesministerium fur Bildung und Forschung grant BMBF 01GV0602 (B.H.-D., K.K.).Dr. Fink has served as an editorial board member of Cortex, Zeitschrift fur Neuropsychologie and Fortschritte der Neurologie Psychiatrie. He has received royalties from the publication of the book 'Funktionelle MRT in Psychiotrie und Neurologie" and "Neurologische Differentialdiagnose," has received honoraria for speaking engagements from Teva, GlaxoSmithKline, and Boehringer Ingelheim, and has received research support from the Bundesministerium fur Bildung und Forschung and the Deutsche Forschungsgemeinschaft. Dr. Herpertz-Dohlmann has served as a consultant to Eli Lilly and Co. and has received industry research funding from Medice and Vifor. Dr. Konrad has served as an editorial board member of the Journal of Neural Transmission, the Journal of Child Psychology, and Zeitschrift fur Kinder-und Jugendpsychiatrie, has received speaking fees from Eli Lilly and Co., Novartis, and Medice, has received industry research funding from Vifor, and has received research support from the Bundesministerium fur Bildung und Forschung and the Deutsche Forschungsgemeinschaft. Drs. Schulte-Ruther and Mainz report no biomedical financial interests or potential conflicts of interest. 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