FN Thomson Reuters Web of Science™ VR 1.0 PT J AU Bragesjo, F Hallberg, M AF Bragesjo, Fredrik Hallberg, Margareta TI Dilemmas of a Vitalizing Vaccine Market: Lessons from the MMR Vaccine/Autism Debate SO SCIENCE IN CONTEXT LA English DT Article ID CHILDHOOD VACCINATION; RISK COMMUNICATION; RUBELLA VACCINE; MEASLES; MUMPS; HEALTH; AUTISM; CONTROVERSY; HISTORY; TRUST AB A number of issues related to vaccines and vaccinations in society are discussed in this paper. Our purpose is to merge an analysis of some recent changes in the vaccine market with social science research on the relationship between citizens and authorities. The article has two empirical parts. The first shows how the vaccine market, which for many years has had immense financial problems, nowadays seems to becoming economically vitalized, mostly due to the production of new and profitable vaccines. However prosperous the future may appear, certain reactions from the public regarding vaccination initiatives offer insight into inherent problems of vaccine policies in many Western countries. In the second part of the article, these problems are exemplified with the recent controversy over the MMR, (measles, mumps, and rubella) vaccine. We conclude that in spite of the improving profit-margins, the vaccine market remains vulnerable and insecure. Vaccines are permeated by society, even more so than pharmaceutics that are used to cure or alleviate illnesses. Radical changes in financial conditions with promises of a more profitable market will not, we argue, solve other even more fundamental problems. C1 [Bragesjo, Fredrik; Hallberg, Margareta] Univ Gothenburg, Gothenburg, Sweden. RP Bragesjo, F (reprint author), Univ Gothenburg, Gothenburg, Sweden. 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Context PD MAR PY 2011 VL 24 IS 1 BP 107 EP 125 DI 10.1017/S0269889710000281 PG 19 WC History & Philosophy Of Science SC History & Philosophy of Science GA 727SG UT WOS:000287821000004 PM 21560548 ER PT J AU Dissanayake, C Shembrey, J Suddendorf, T AF Dissanayake, Cheryl Shembrey, Joh Suddendorf, Thomas TI Delayed video self-recognition in children with high functioning autism and Asperger's disorder SO STUDIES IN RELIGION-SCIENCES RELIGIEUSES LA English DT Article DE autistic disorder; Asperger's disorder; delayed self-recognition; high-functioning autism; temporally extended self ID DEVELOPMENTAL ASYNCHRONY; MIND; REPRESENTATION; IMITATION; DEFICIT; BELIEF AB Two studies are reported which investigate delayed video self-recognition (DSR) in children with autistic disorder and Asperger's disorder relative to one another and to their typically developing peers. A secondary aim was to establish whether DSR ability is dependent on metarepresentational ability. Children's verbal and affective responses to their image were also measured. Three groups of male children between 5 and 9 years, comprising 15 with high-functioning autistic disorder (HFA), 12 with Asperger's disorder (AspD), and 15 typically developing (TD) children, participated in Study 1. Study 2 included two groups of younger children (18 HFA; 18 TD) aged 4 to 7 years. Participant groups in each study were equally able to recognize themselves using delayed video feedback, and responded to their marked image with positive affect. This was so even amongst children with HFA who were impaired in their performance on false belief tasks, casting doubt on a metarepresentational basis of DSR. C1 [Dissanayake, Cheryl] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3086, Australia. [Suddendorf, Thomas] Univ Queensland, Brisbane, Qld 4072, Australia. 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PD FEB 25 PY 2011 VL 18 IS 2 BP 142 EP 143 DI 10.1016/j.chembiol.2011.02.006 PG 2 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA 733XZ UT WOS:000288299100002 PM 21338911 ER PT J AU Manolakos, E Sarri, C Vetro, A Kefalas, K Leze, E Sofocleus, C Kitsos, G Merou, K Kokotas, H Papadopoulou, A Attilakos, A Petersen, MB Kitsiou-Tzeli, S AF Manolakos, Emmanouil Sarri, Catherine Vetro, Annalisa Kefalas, Konstantinos Leze, Eleni Sofocleus, Christalena Kitsos, George Merou, Konstantina Kokotas, Haris Papadopoulou, Anna Attilakos, Achilleas Petersen, Michael B. Kitsiou-Tzeli, Sofia TI Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy SO MOLECULAR CYTOGENETICS LA English DT Article ID AUTISM SPECTRUM DISORDERS; PROXIMAL 15Q; INTERSTITIAL DUPLICATION; MOLECULAR CHARACTERIZATION; DEVELOPMENTAL DELAY; CLINICAL-FEATURES; REGION; 15Q11-Q13; MICRODUPLICATIONS; REARRANGEMENTS AB Background: Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far. Results: Here we report a 6-year-old boy presenting growth retardation, dysmorphic features and who exhibited learning difficulties. Fluorescence in situ hybridization (FISH) analysis of the proband revealed a deletion of DiGeorge Syndrome critical region (TUPLE). Array-CGH analysis revealed an interstitial duplication of 12 Mb in size in the area 15q11.2-q13.3, combined with a 3.2 Mb deletion at region 22q11.1-q11.21. FISH analysis in the mother showed a cryptic balanced translocation between chromosome 15 and chromosome 22 (not evident by classic karyotyping). Discusion: The clinical manifestations could be related to both syndromes and the importance of array-CGH analysis in cases of unexplained developmental delay is emphasized. The present case further demonstrates how molecular cytogenetic techniques applied in the parents were necessary for the genetic counseling of the family. C1 [Manolakos, Emmanouil; Kefalas, Konstantinos] Bioiatriki SA, Genet Lab, Athens, Greece. [Sarri, Catherine; Merou, Konstantina; Kokotas, Haris; Petersen, Michael B.] St Sophias Childrens Hosp, Inst Child Hlth, Dept Genet, Athens, Greece. [Vetro, Annalisa] Univ Pavia, Dipartimento Patol Umana & Ereditaria, I-27100 Pavia, Italy. [Leze, Eleni; Sofocleus, Christalena; Kitsiou-Tzeli, Sofia] Univ Athens, Sch Med, St Sophias Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece. [Kitsos, George] Univ Ioannina, Dept Ophthalmol, GR-45110 Ioannina, Greece. [Papadopoulou, Anna; Attilakos, Achilleas] Univ Athens, Sch Med, Attikon Univ Hosp, Dept Pediat 3, GR-11527 Athens, Greece. RP Manolakos, E (reprint author), Bioiatriki SA, Genet Lab, Athens, Greece. 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Cytogenet. PD FEB 23 PY 2011 VL 4 AR 6 DI 10.1186/1755-8166-4-6 PG 8 WC Genetics & Heredity SC Genetics & Heredity GA 011MO UT WOS:000309169300001 PM 21345209 ER PT J AU Lintas, C Guidi, F Manzi, B Mancini, A Curatolo, P Persico, AM AF Lintas, Carla Guidi, Francesco Manzi, Barbara Mancini, Antonio Curatolo, Paolo Persico, Antonio M. TI Lack of Infection with XMRV or Other MLV-Related Viruses in Blood, Post-Mortem Brains and Paternal Gametes of Autistic Individuals SO PLOS ONE LA English DT Article ID CONGENITAL CYTOMEGALOVIRUS-INFECTION; CHRONIC-FATIGUE-SYNDROME; PROSTATE-CANCER; RUBELLA; DISORDER; CHILDREN; ASSOCIATION AB Background: Autistic spectrum disorder (ASD) is characterized by impaired language, communication and social skills, as well as by repetitive and stereotypic patterns of behavior. Many autistic subjects display a dysregulation of the immune system which is compatible with an unresolved viral infection with prenatal onset, potentially due to vertical viral transmission. Recently, the xenotropic murine leukemia virus-related virus (XMRV) has been implicated in chronic fatigue syndrome (CFS) and in prostate cancer by several, though not all studies. Methodology/Principal Findings: We assessed whether XMRV or other murine leukemia virus (MLV)-related viruses are involved in autistic disorder. Using nested PCR targeted to gag genomic sequences, we screened DNA samples from: (i) peripheral blood of 102 ASD patients and 97 controls, (ii) post-mortem brain samples of 20 ASD patients and 17 sex- and age-matched controls, (iii) semen samples of 11 fathers of ASD children, 25 infertile individuals and 7 fertile controls. No XMRV gag DNA sequences were detected, whereas peripheral blood samples of 3/97 (3.1%) controls were positive for MLV. Conclusions/Significance: No MLV-related virus was detected in blood, brain, and semen samples of ASD patients or fathers. Hence infection with XMRV or other MLV-related viruses is unlikely to contribute to autism pathogenesis. C1 [Lintas, Carla; Persico, Antonio M.] Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, Rome, Italy. [Lintas, Carla; Persico, Antonio M.] IRCCS Fdn Santa Lucia, Lab Mol Psychiat & Psychiat Genet, Dept Expt Neurosci, Rome, Italy. [Guidi, Francesco] Univ Cattolica Sacro Cuore, Inst Hematol, I-00168 Rome, Italy. [Manzi, Barbara; Curatolo, Paolo] Univ Tor Vergata, Dept Child Neuropsychiat, Rome, Italy. [Mancini, Antonio] Univ Cattolica Sacro Cuore, Dept Internal Med, I-00168 Rome, Italy. RP Lintas, C (reprint author), Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, Univ Campus Biomed, Rome, Italy. EM A.Persico@unicampus.it FU Italian Ministry for University, Scientific Research and Technology [2006058195, 2008BACT54]; Italian Ministry of Health [RFPS-2007-5-640174]; Fondazione Gaetano e Mafalda Luce (Milan, Italy); Autism Speaks (Princeton, N.J.); Autism Research Institute (San Diego, CA) FX This work was supported by the Italian Ministry for University, Scientific Research and Technology (P.R.I.N. n.2006058195 and 2008BACT54), the Italian Ministry of Health (RFPS-2007-5-640174), the Fondazione Gaetano e Mafalda Luce (Milan, Italy), a Trailblazer Award by Autism Speaks (Princeton, N.J.), and the Autism Research Institute (San Diego, CA). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Such endophenotypes may be measurable biomarkers for later cognitive impairments. The nonlinear complexity of electroencephalography (EEG) signals is believed to contain information about the architecture of the neural networks in the brain on many scales. Early detection of abnormalities in EEG signals may be an early biomarker for developmental cognitive disorders. The goal of this paper is to demonstrate that the modified multiscale entropy (mMSE) computed on the basis of resting state EEG data can be used as a biomarker of normal brain development and distinguish typically developing children from a group of infants at high risk for autism spectrum disorder (ASD), defined on the basis of an older sibling with ASD. Methods: Using mMSE as a feature vector, a multiclass support vector machine algorithm was used to classify typically developing and high-risk groups. Classification was computed separately within each age group from 6 to 24 months. Results: Multiscale entropy appears to go through a different developmental trajectory in infants at high risk for autism (HRA) than it does in typically developing controls. Differences appear to be greatest at ages 9 to 12 months. Using several machine learning algorithms with mMSE as a feature vector, infants were classified with over 80% accuracy into control and HRA groups at age 9 months. Classification accuracy for boys was close to 100% at age 9 months and remains high (70% to 90%) at ages 12 and 18 months. For girls, classification accuracy was highest at age 6 months, but declines thereafter. Conclusions: This proof-of-principle study suggests that mMSE computed from resting state EEG signals may be a useful biomarker for early detection of risk for ASD and abnormalities in cognitive development in infants. To our knowledge, this is the first demonstration of an information theoretic analysis of EEG data for biomarkers in infants at risk for a complex neurodevelopmental disorder. C1 [Bosl, William; Nelson, Charles] Harvard Univ, Sch Med, Boston, MA 02115 USA. [Bosl, William] Harvard Mit Div Hlth Sci & Technol, Childrens Hosp Boston Informat Program, Boston, MA USA. [Tierney, Adrienne] Harvard Univ, Grad Sch Educ, Cambridge, MA 02138 USA. [Tierney, Adrienne; Nelson, Charles] Childrens Hosp, Dept Dev Med, Boston, MA 02115 USA. [Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Boston, MA 02215 USA. RP Bosl, W (reprint author), Harvard Univ, Sch Med, Boston, MA 02115 USA. EM william.bosl@childrens.harvard.edu FU Autism Speaks; National Institute on Deafness and Other Communication Disorders (NIDCD) [R21 DC08647, R01 DC 10290]; Simons Foundation FX This research was supported by a grant from Autism Speaks (to HTF), National Institute on Deafness and Other Communication Disorders (NIDCD) grant R21 DC08647 (to HTF), NIDCD grant R01 DC 10290 (to HTF and CAN) and a grant from the Simons Foundation (to CAN and WJB). We thank the following people for their help in data collection: Tara Augenstein, Leah Casner, Laura Kasparian, Nina Leezenbaum, Vanessa Vogel-Farley and Annemarie Zuluaga. We are especially grateful to the families who participated in this study. 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The Fmr1-KO mouse is an example of this approach, modeling Fragile X syndrome, a well-known genetic disorder presenting ASD symptoms. The Fmr1-KO is available on different genetic backgrounds (FVB versus C57BL/6), which may explain some of the conflicting results that have been obtained with these mutants up till now. Methods: Fmr1 KO and their wild-type littermates on both the FVB and C57BL/6 genetic backgrounds were examined on a battery of tests modeling the clinical symptoms of ASD, including the triad of core symptoms (alterations in social interaction and communication, presence of repetitive behaviors), as well as the secondary symptoms (disturbances in sensori-motor reactivity and in circadian patterns of activity, epileptic events). Results: Fmr1-KO mice displayed autistic-like core symptoms of altered social interaction and occurrence of repetitive behaviors with additional hyperactivity. The genetic background modulated the effects of the Fmr1 deletion and it appears that the C57BL/6 background may be more suitable for further research on core autistic-like symptoms. Conclusions: The Fmr1-mouse line does not recapitulate all of the main core and secondary ASD symptoms, but still can be useful to elucidate the neurobiological mechanisms underlying specific ASD-like endophenotypes. C1 [Pietropaolo, Susanna; Crusio, Wim E.] Univ Bordeaux, Inst Neurosci Cognit & Integrat Aquitaine, Talence, France. [Pietropaolo, Susanna; Crusio, Wim E.] CNRS, UMR 5287, Talence, France. [Guilleminot, Aurelie; Martin, Benoit] INSERM, U642, Lab Traitement Signal & Image, Rennes, France. [Guilleminot, Aurelie; Martin, Benoit] Univ Rennes 1, LTSI, Rennes, France. [D'Amato, Francesca R.] Italian Natl Res Council CNR, Inst Neurosci, Rome, Italy. RP Pietropaolo, S (reprint author), Univ Bordeaux, Inst Neurosci Cognit & Integrat Aquitaine, Talence, France. EM wim_crusio@yahoo.com RI Crusio, Wim/A-7070-2008 OI Crusio, Wim/0000-0001-6638-202X FU March of Dimes [12-FY05-1198]; Conseil Regional d'Aquitaine, CNRS; University of Bordeaux 1; INSERM; University of Rennes 1; CNRS-CNR [23779] FX This work was supported by grants from the March of Dimes (12-FY05-1198), Conseil Regional d'Aquitaine, CNRS, and the University of Bordeaux 1 to Wim E. Crusio. Aurelie Guilleminot and Benoit Martin were supported by grants from INSERM and the University of Rennes 1. Susanna Pietropaolo, Francesca D'Amato, and Wim E. Crusio were supported by the bilateral grant CNRS-CNR 2010 (#23779). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Bos, Peter A. Kruijt, Anne-Wil Lentjes, Eef G. Baron-Cohen, Simon TI Testosterone administration impairs cognitive empathy in women depending on second-to-fourth digit ratio SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE prenatal priming; steroid hormones; mind reading ID HEALTHY-YOUNG WOMEN; FETAL TESTOSTERONE; SEX-DIFFERENCES; EMOTION RECOGNITION; CYCLE PHASE; EYES TEST; AUTISM; BEHAVIOR; 2ND; BRAIN AB During social interactions we automatically infer motives, intentions, and feelings from bodily cues of others, especially from the eye region of their faces. This cognitive empathic ability is one of the most important components of social intelligence, and is essential for effective social interaction. Females on average out-perform males in this cognitive empathy, and the male sex hormone testosterone is thought to be involved. Testosterone may not only down-regulate social intelligence organizationally, by affecting fetal brain development, but also activationally, by its current effects on the brain. Here, we show that administration of testosterone in 16 young women led to a significant impairment in their cognitive empathy, and that this effect is powerfully predicted by a proxy of fetal testosterone: the right-hand second digit-to-fourth digit ratio. Our data thus not only demonstrate down-regulatory effects of current testosterone on cognitive empathy, but also suggest these are preprogrammed by the very same hormone prenatally. These findings have importance for our understanding of the psychobiology of human social intelligence. C1 [van Honka, Jack; Schutter, Dennis J.; Bos, Peter A.] Univ Utrecht, Dept Expt Psychol, NL-3584 CS Utrecht, Netherlands. [van Honka, Jack] Univ Cape Town, Dept Psychiat, ZA-7925 Cape Town, South Africa. [Kruijt, Anne-Wil] Leiden Univ, Dept Clin Psychol, NL-2300 RC Leiden, Netherlands. [Lentjes, Eef G.] Univ Utrecht, Dept Clin Chem, NL-3584 CX Utrecht, Netherlands. [Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England. RP van Honka, J (reprint author), Univ Utrecht, Dept Expt Psychol, NL-3584 CS Utrecht, Netherlands. EM j.vanhonk@uu.nl FU Utrecht University; Hope for Depression Research Foundation [RGA 9-015]; Netherlands Society of Scientific Research Innovational Research [452-07-012]; Netherlands Society of Scientific Research Brain and Cognition [056-24-010]; United Kingdom Medical Research Council; Nancy Lurie Marks Family Foundation FX We thank Aimee Capello for her assistance in this research. This work was supported by research grants from Utrecht University (High-Potential) (to J.v.H.); Hope for Depression Research Foundation Grant RGA 9-015 (to J.v.H.); Netherlands Society of Scientific Research Innovational Research Grant 452-07-012 (to D.J.S.); Netherlands Society of Scientific Research Brain and Cognition Grant 056-24-010 (to J.v.H.); the United Kingdom Medical Research Council (S.B.-C.); and the Nancy Lurie Marks Family Foundation (S.B.-C.). 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TI Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation SO PLOS ONE LA English DT Article ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; SYNAPTIC PLASTICITY; VALPROIC ACID; ANIMAL-MODEL; MOUSE MODEL; CHILDREN; MEMORY; SCHIZOPHRENIA; RESPONSES AB A causal role of mutations in multiple general transcription factors in neurodevelopmental disorders including autism suggested that alterations in global levels of gene expression regulation might also relate to disease risk in sporadic cases of autism. This premise can be tested by evaluating for changes in the overall distribution of gene expression levels. For instance, in mice, variability in hippocampal-dependent behaviors was associated with variability in the pattern of the overall distribution of gene expression levels, as assessed by variance in the distribution of gene expression levels in the hippocampus. We hypothesized that a similar change in variance might be found in children with autism. Gene expression microarrays covering greater than 47,000 unique RNA transcripts were done on RNA from peripheral blood lymphocytes (PBL) of children with autism (n = 82) and controls (n = 64). Variance in the distribution of gene expression levels from each microarray was compared between groups of children. Also tested was whether a risk factor for autism, increased paternal age, was associated with variance. A decrease in the variance in the distribution of gene expression levels in PBL was associated with the diagnosis of autism and a risk factor for autism, increased paternal age. Traditional approaches to microarray analysis of gene expression suggested a possible mechanism for decreased variance in gene expression. Gene expression pathways involved in transcriptional regulation were down-regulated in the blood of children with autism and children of older fathers. Thus, results from global and gene specific approaches to studying microarray data were complimentary and supported the hypothesis that alterations at the global level of gene expression regulation are related to autism and increased paternal age. Global regulation of transcription, thus, represents a possible point of convergence for multiple etiologies of autism and other neurodevelopmental disorders. C1 [Alter, Mark D.; Kharkar, Rutwik] Univ Penn, Dept Psychiat, Ctr Neurobiol & Behav, Philadelphia, PA 19104 USA. [Ramsey, Keri E.; Craig, David W.; Stephan, Dietrich A.] Translat Gen Res Inst, Neurogen Div, Phoenix, AZ USA. [Melmed, Raun D.; Grebe, Theresa A.; Bay, R. Curtis; Ober-Reynolds, Sharman; Kirwan, Janet; Jones, Josh J.] SW Autism Res & Resource Ctr, Phoenix, AZ USA. [Turner, J. Blake] Columbia Univ, Dept Psychiat, Div Child & Adolescent Psychiat, New York, NY USA. [Hen, Rene] Columbia Univ, Dept Psychiat, New York, NY USA. [Hen, Rene] Columbia Univ, Dept Neurosci, New York, NY USA. RP Alter, MD (reprint author), Univ Penn, Dept Psychiat, Ctr Neurobiol & Behav, Philadelphia, PA 19104 USA. EM markalter1968@gmail.com FU NARSAD; state of Arizona FX Research support: Dr. Alter's salary was paid in part through a NARSAD Young Investigator Award (http://www.narsad.org/?q = node/124/apply_for_grants/124); sample collection and processing, microarrays, and salary support provided through a grant from the state of Arizona. 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 Sex Hormones in Autism: Androgens and Estrogens Differentially and Reciprocally Regulate RORA, a Novel Candidate Gene for Autism SO PLOS ONE LA English DT Article ID STAGGERER MUTANT MICE; EXPRESSION; ALPHA; EXPLORATION; PATTERNS; PROMO AB Autism, a pervasive neurodevelopmental disorder manifested by deficits in social behavior and interpersonal communication, and by stereotyped, repetitive behaviors, is inexplicably biased towards males by a ratio of,4: 1, with no clear understanding of whether or how the sex hormones may play a role in autism susceptibility. Here, we show that male and female hormones differentially regulate the expression of a novel autism candidate gene, retinoic acid-related orphan receptor-alpha (RORA) in a neuronal cell line, SH-SY5Y. In addition, we demonstrate that RORA transcriptionally regulates aromatase, an enzyme that converts testosterone to estrogen. We further show that aromatase protein is significantly reduced in the frontal cortex of autistic subjects relative to sex-and age-matched controls, and is strongly correlated with RORA protein levels in the brain. These results indicate that RORA has the potential to be under both negative and positive feedback regulation by male and female hormones, respectively, through one of its transcriptional targets, aromatase, and further suggest a mechanism for introducing sex bias in autism. C1 [Sarachana, Tewarit; Xu, Minyi; Wu, Ray-Chang; Hu, Valerie W.] George Washington Univ, Med Ctr, Dept Biochem & Mol Biol, Washington, DC 20037 USA. RP Sarachana, T (reprint author), George Washington Univ, Med Ctr, Dept Biochem & Mol Biol, Washington, DC 20037 USA. EM bcmvwh@gwumc.edu FU Autism Speaks [2381]; National Center for Research Resources [S10RR025565]; Office of the Commission on Higher Education of the Royal Thai Government, Thailand FX Funding: The project described was supported in part by a grant from Autism Speaks Grant # 2381 (VWH), by a joint intramural GWU and Clinical and Translational Science Institute-Children's National Award for development of Novel Clinical and Translational Methodologies (VWH), and by Award Number S10RR025565 from the National Center for Research Resources (P.I.: Anastas Popratiloff, Ph.D.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Center for Research Resources or the National Institutes of Health. TS is a predoctoral student in the Institute for Biomedical Sciences at The George Washington University, who is supported by a Higher Educational Strategic Scholarship for Frontier Research from the Office of the Commission on Higher Education of the Royal Thai Government, Thailand. This work is part of his dissertation research to be presented in partial fulfillment of the requirements for the Ph.D. No additional external funding was received for this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Ghosh, Anirvan TI Investigating synapse formation and function using human pluripotent stem cell-derived neurons SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE neural differentiation; autism spectrum disorders; synaptogenesis ID DIRECTED DIFFERENTIATION; NEURAL PRECURSORS; AUTISM; NEUROLIGINS; INDUCTION; SYSTEM; GENES; AGGREGATION; DERIVATION; MUTATIONS AB A major goal of stem-cell research is to identify conditions that reliably regulate their differentiation into specific cell types. This goal is particularly important for human stem cells if they are to be used for in vivo transplantation or as a platform for drug development. Here we describe the establishment of procedures to direct the differentiation of human embryonic stem cells and human induced pluripotent stem cells into forebrain neurons that are capable of forming synaptic connections. In addition, HEK293T cells expressing Neuroligin (NLGN) 3 and NLGN4, but not those containing autism-associated mutations, are able to induce presynaptic differentiation in human induced pluripotent stem cell-derived neurons. We show that a mutant NLGN4 containing an in-frame deletion is unable to localize correctly to the cell surface when overexpressed and fails to enhance synapse formation in human induced pluripotent stem cell-derived neurons. These findings establish human pluripotent stem cell-derived neurons as a viable model for the study of synaptic differentiation and function under normal and disorder-associated conditions. C1 [Kim, Ji-Eun; O'Sullivan, Matthew L.; Sanchez, Christopher A.; Hwang, Minju; Ghosh, Anirvan] Univ Calif San Diego, Neurobiol Sect, Div Biol Sci, La Jolla, CA 92093 USA. [Israel, Mason A.; Goldstein, Lawrence S. B.] Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA. 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G.) and a Postdoctoral Fellowship (to J.-E.K) from the California Institute for Regenerative Medicine. 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There are two known disorders of creatine synthesis (both transmitted as autosomal recessive traits: arginine: glycine amidinotransferase (AGAT) deficiency; OMIM 602360; and guanidinoacetate methyltransferase (GAMT) deficiency (OMIM 601240)) and one disorder of creatine transport (X-linked recessive SLC6A8 creatine transporter deficiency (OMIM 300036)). All these disorders are characterized by brain creatine deficiency, detectable by magnetic resonance spectroscopy. Affected patients can have mental retardation, hypotonia, autism or behavioral problems and seizures. The diagnosis of these conditions relies on the measurement of plasma and urine creatine and guanidinoacetate. Creatine levels in plasma are reduced in both creatine synthesis defects and guanidinoacetate is increased in GAMT deficiency. The urine creatine/creatinine ratio is elevated in creatine transporter deficiency with normal plasma levels of creatine and guanidinoacetate. The diagnosis is confirmed in all cases by DNA testing or functional studies. Defects of creatine biosynthesis are treated with creatine supplements and, in GAMT deficiency, with ornithine and dietary restriction of arginine through limitation of protein intake. No causal therapy is yet available for creatine transporter deficiency and supplementation with the guanidinoacetate precursors arginine and glycine is being explored. The excellent response to therapy of early identified patients with GAMT or AGAT deficiency candidates these condition for inclusion in newborn screening programs. (c) 2011 Wiley-Liss, Inc. C1 [Longo, Nicola] Univ Utah, Div Med Genet, Dept Pediat, Salt Lake City, UT 84132 USA. [Vanzo, Rena] Univ Utah, Matabol & Genet Clin, Salt Lake City, UT 84132 USA. RP Longo, N (reprint author), Univ Utah, Div Med Genet, Dept Pediat, 2C412 SOM,50 N Mario Capecchi Dr, Salt Lake City, UT 84132 USA. EM nicola.longo@hsc.utah.edu FU University of Utah [VP_00000490] FX Grant sponsor: University of Utah Intramural Award; Grant number: VP_00000490. 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This paradox suggests a theory of mind (ToM) deficit in adults with ASD that has yet to be demonstrated in an experimental task eliciting ToM judgments. We tested whether ASD adults would show atypical moral judgments when they need to consider both the intentions (based on ToM) and outcomes of a person's actions. In experiment 1, ASD and neurotypical (NT) participants performed a ToM task designed to test false belief understanding. In experiment 2, the same ASD participants and a new group of NT participants judged the moral permissibility of actions, in a 2 (intention: neutral/negative) x 2 (outcome: neutral/negative) design. Though there was no difference between groups on the false belief task, there was a selective difference in the moral judgment task for judgments of accidental harms, but not neutral acts, attempted harms, or intentional harms. Unlike the NT group, which judged accidental harms less morally wrong than attempted harms, the ASD group did not reliably judge accidental and attempted harms as morally different. In judging accidental harms, ASD participants appeared to show an underreliance on information about a person's innocent intention and, as a direct result, an over-reliance on the action's negative outcome. These findings reveal impairments in integrating mental state information (e. g., beliefs, intentions) for moral judgment. C1 [Moran, Joseph M.] Harvard Univ, MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. Harvard Univ, MIT, Div Hlth Sci & Technol, Cambridge, MA 02139 USA. RP Moran, JM (reprint author), Harvard Univ, MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. 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PD FEB 15 PY 2011 VL 108 IS 7 BP 2688 EP 2692 DI 10.1073/pnas.1011734108 PG 5 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 721TB UT WOS:000287377000017 PM 21282628 ER PT J AU Hoon, M Soykan, T Falkenburger, B Hammer, M Patrizi, A Schmidt, KF Sassoe-Pognetto, M Lowel, S Moser, T Taschenberger, H Brose, N Varoqueaux, F AF Hoon, Mrinalini Soykan, Tolga Falkenburger, Bjoern Hammer, Matthieu Patrizi, Annarita Schmidt, Karl-Friedrich Sassoe-Pognetto, Marco Loewel, Siegrid Moser, Tobias Taschenberger, Holger Brose, Nils Varoqueaux, Frederique TI Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE synaptogenesis; inhibitory transmission; visual processing ID GANGLION-CELLS; MAMMALIAN RETINA; SYNAPSES; AUTISM; GEPHYRIN; MOUSE; RECEPTORS; NEURONS; GABA; TRANSMISSION AB Neuroligins (NL1-NL4) are postsynaptic adhesion proteins that control the maturation and function of synapses in the central nervous system (CNS). Loss-of-function mutations in NL4 are linked to rare forms of monogenic heritable autism, but its localization and function are unknown. Using the retina as a model system, we show that NL4 is preferentially localized to glycinergic postsynapses and that the loss of NL4 is accompanied by a reduced number of glycine receptors mediating fast glycinergic transmission. Accordingly, NL4-deficient ganglion cells exhibit slower glycinergic miniature postsynaptic currents and subtle alterations in their stimuluscoding efficacy, and inhibition within the NL4-deficient retinal network is altered as assessed by electroretinogram recordings. These data indicate that NL4 shapes network activity and information processing in the retina by modulating glycinergic inhibition. Importantly, NL4 is also targeted to inhibitory synapses in other areas of the CNS, such as the thalamus, colliculi, brainstem, and spinal cord, and forms complexes with the inhibitory postsynapse proteins gephyrin and collybistin in vivo, indicating that NL4 is an important component of glycinergic postsynapses. C1 [Hoon, Mrinalini; Soykan, Tolga; Hammer, Matthieu; Brose, Nils; Varoqueaux, Frederique] Max Planck Inst Expt Med, Dept Mol Neurobiol, D-37075 Gottingen, Germany. [Hoon, Mrinalini; Falkenburger, Bjoern; Hammer, Matthieu; Moser, Tobias; Brose, Nils; Varoqueaux, Frederique] Deutsch Forsch Gemeinschaft Res Ctr Mol Physiol B, D-37075 Gottingen, Germany. [Falkenburger, Bjoern] Univ Gottingen, Dept Neurodegenerat & Restorat Res, D-37075 Gottingen, Germany. [Patrizi, Annarita; Sassoe-Pognetto, Marco] Dept Anat Pharmacol & Forens Med, I-10126 Turin, Italy. [Patrizi, Annarita; Sassoe-Pognetto, Marco] Natl Inst Neurosci, I-10126 Turin, Italy. [Schmidt, Karl-Friedrich; Loewel, Siegrid] Univ Jena, Inst Gen Zool & Anim Physiol, D-07743 Jena, Germany. [Moser, Tobias] Univ Gottingen, Dept Otolaryngol, D-37075 Gottingen, Germany. [Taschenberger, Holger] Max Planck Inst Biophys Chem, Dept Membrane Biophys, D-37077 Gottingen, Germany. RP Brose, N (reprint author), Max Planck Inst Expt Med, Dept Mol Neurobiol, D-37075 Gottingen, Germany. EM brose@em.mpg.de; varoqueaux@em.mpg.de RI Moser, Tobias/L-5068-2014 OI Moser, Tobias/0000-0001-7145-0533 FU Cure Autism Now Foundation; Hertie Foundation; European Community [NEUREST MEST-CT-2004-504193, EUROSPIN-HEALTH-F2-2009-241498]; Deutsche Forschungsgemeinschaft Center for Molecular Physiology of the Brain; Human Frontier Science Program; Max Planck Society FX We thank J. Ammermuller, K. Dedek, J.-M. Fritschy, T. Gollisch, M. Van Wyk, H. Wassle, and R. Wong for helpful discussions and B. Cooper, C. Rudiger and K. Hellmann for technical support. This work was funded by the Cure Autism Now Foundation (F.V.); the Hertie Foundation (M. Hoon); European Community Grants NEUREST MEST-CT-2004-504193 (to M. Hoon) and EUROSPIN-HEALTH-F2-2009-241498 (to N.B.); the Deutsche Forschungsgemeinschaft Center for Molecular Physiology of the Brain (M. Hoon, B.F., M. Hammer, T.M., N.B., and F.V.); a Human Frontier Science Program grant (to S.L.); a Human Frontier Science Program fellowship (to B.F.); and the Max Planck Society (Tandem Project) (N.B. and T.M.). 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TI Beyond age and gender: Relationships between cortical and subcortical brain volume and cognitive-motor abilities in school-age children SO NEUROIMAGE LA English DT Article DE Structural MRI; IQ; Executive function; Purdue pegboard ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEVELOPMENTAL COORDINATION DISORDER; BASAL GANGLIA; CEREBELLAR CORTEX; HEALTHY-CHILDREN; FRONTAL-LOBE; NIH MRI; AUTISM; IQ AB There is growing evidence that cognitive and motor functions are interrelated and may rely on the development of the same cortical and subcortical neural structures. However, no study to date has examined the relationships between brain volume, cognitive ability, and motor ability in typically developing children. The NIH MRI Study of Normal Brain Development consists of a large, longitudinal database of structural MRI and performance measures from a battery of neuropsychological assessments from typically developing children. This dataset provides a unique opportunity to examine relationships between the brain and cognitive-motor abilities. A secondary analysis was conducted on data from 172 children between the ages of 6 to 13 years with up to 2 measurement occasions (initial testing and 2-year follow-up). Linear mixed effects modeling was employed to account for age and gender effects on the development of specific cortical and subcortical volumes as well as behavioral performance measures of interest. Above and beyond the effects of age and gender, significant relationships were found between general cognitive ability (IQ) and the volume of subcortical brain structures (cerebellum and caudate) as well as spatial working memory and the putamen. In addition, IQ was found to be related to global and frontal gray matter volume as well as parietal gray and white matter. At the behavioral level, general cognitive ability was also found to be related to visuomotor ability (pegboard) and executive function (spatial working memory). These results support the notion that cognition and motor skills may be fundamentally interrelated at both the levels of behavior and brain structure. (C) 2010 Elsevier Inc. All rights reserved. C1 [Pangelinan, Melissa M.; Clark, Jane E.; Hatfield, Bradley D.; Haufler, Amy J.] Univ Maryland, Cognit Motor Neurosci Lab, Dept Kinesiol, College Pk, MD 20742 USA. [Pangelinan, Melissa M.; Clark, Jane E.; Hatfield, Bradley D.; Haufler, Amy J.] Univ Maryland, Neurosci & Cognit Sci Program, College Pk, MD 20742 USA. [Zhang, Guangyu] Univ Maryland, Dept Epidemiol & Biostat, College Pk, MD 20742 USA. [VanMeter, John W.] Georgetown Univ, Med Ctr, Ctr Funct & Mol Imaging, Washington, DC 20007 USA. RP Pangelinan, MM (reprint author), Univ Maryland, Cognit Motor Neurosci Lab, Dept Kinesiol, 2351 Sch Publ Hlth Bldg, College Pk, MD 20742 USA. EM pangel@umd.edu FU National Institute for Child Health and Human Development, National Institute on Drug Abuse, National Institute of Mental Health; National Institutes of Neurological Disorders and Stroke [N01-HD023343, N01-MH90002, N01-NS92314, -2315, -2316, -2317, -2319, -2320]; School of Public Health at the University of Maryland; NIH [F31HD612102] FX The data set used in the preparation of this manuscript was obtained from the Pediatric MRI Data Repository (data release 2) created by the NIH MRI Study of Normal Brain Development. This multi-site, longitudinal study of typically developing children was conducted by the Brain Development Cooperative Group supported by the National Institute for Child Health and Human Development, National Institute on Drug Abuse, National Institute of Mental Health, and National Institutes of Neurological Disorders and Stroke - contract #s N01-HD023343, N01-MH90002, N01-NS92314, -2315, - 2316, 2317, -2319, -2320. This manuscript reflects the views of the authors and may not reflect the opinions or views of the Brain Development Cooperative Group Invesitators or the NIH. We would like to thank the Brain Development Cooperative Group for their work on the data collection and processing of the structural MRI. We would also like to thank Dr. Judith Rumsey for her assistance in accessing the data repository. Additional support for the current study was provided by a seed grant from the School of Public Health at the University of Maryland (to AJH) and NIH F31HD612102 (to MMP). 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Lam, Sylvia Meyer, Urs Feldon, Joram Li, Qi Wei, Ran Luk, Lawrence Chua, Siew Eng Sham, Pak Wang, Yu McAlonan, Grainne Mary TI Frontal-Subcortical Protein Expression following Prenatal Exposure to Maternal Inflammation SO PLOS ONE LA English DT Article ID DIFFERENCE GEL-ELECTROPHORESIS; AUTISM SPECTRUM DISORDERS; PREFRONTAL CORTEX; WHITE-MATTER; 1ST-EPISODE SCHIZOPHRENIA; INFLUENZA EPIDEMICS; SIGNALING PATHWAYS; MOLECULAR EVIDENCE; OXIDATIVE STRESS; HEAT-SHOCK AB Background: Maternal immune activation (MIA) during prenatal life is a risk factor for neurodevelopmental disorders including schizophrenia and autism. Such conditions are associated with alterations in fronto-subcortical circuits, but their molecular basis is far from clear. Methodology/Principal Findings: Using two-dimensional differential in-gel electrophoresis (2D-DIGE) and mass spectrometry, with targeted western blot analyses for confirmation, we investigated the impact of MIA on the prefrontal and striatal proteome from an established MIA mouse model generated in C57B6 mice, by administering the viral analogue PolyI:C or saline vehicle (control) intravenously on gestation day (GD) 9. In striatum, 11 proteins were up-regulated and 4 proteins were down-regulated in the PolyI: C mice, while 10 proteins were up-regulated and 7 proteins down-regulated in prefrontal cortex (PFC). These were proteins involved in the mitogen-activated protein kinase (MAPK) signaling pathway, oxidation and auto-immune targets, including dual specificity mitogen-activated protein kinase kinase 1 (MEK), eukaryotic initiation factor (eIF) 4A-II, creatine kinase (CK)-B, L-lactate dehydrogenase (LDH)-B, WD repeat-containing protein and NADH dehydrogenase in the striatum; and guanine nucleotide-binding protein (G-protein), 14-3-3 protein, alpha-enolase, olfactory maker protein and heat shock proteins (HSP) 60, and 90-beta in the PFC. Conclusions/Significance: This data fits with emerging evidence for disruption of critical converging intracellular pathways involving MAPK pathways in neurodevelopmental conditions and it shows considerable overlap with protein pathways identified by genetic modeling and clinical post-mortem studies. This has implications for understanding causality and may offer potential biomarkers and novel treatment targets for neurodevelopmental conditions. C1 [Deng, Michelle Y.; Lam, Sylvia; Li, Qi; Wei, Ran; Chua, Siew Eng; Sham, Pak; McAlonan, Grainne Mary] Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China. [Meyer, Urs; Feldon, Joram] Swiss Fed Inst Technol Zurich ETH, Neurobiol & Behav Lab, Schwerzenbach, Switzerland. [Luk, Lawrence] Univ Hong Kong, Genome Res Ctr, Hong Kong, Hong Kong, Peoples R China. [Chua, Siew Eng; Sham, Pak; McAlonan, Grainne Mary] Univ Hong Kong, State Key Lab Brain & Cognit Sci, Hong Kong, Hong Kong, Peoples R China. [Wang, Yu] Univ Hong Kong, Dept Pharmacol, Hong Kong, Hong Kong, Peoples R China. RP Deng, MY (reprint author), Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China. EM mcalonan@hkucc.hku.hk FU Swiss Federal Institute of Technology (ETH) Zurich [1107/03]; Swiss National Science Foundation [3100AO-100309, 3100A0-116719]; NARSAD Distinguished Investigator Award; University of Hong Kong; Hong Kong Research Grants Council FX JF and UM received financial support from the Swiss Federal Institute of Technology (ETH) Zurich (grant-1107/03) and the Swiss National Science Foundation (grant 3100AO-100309 and grant 3100A0-116719). JF holds a 2009 NARSAD Distinguished Investigator Award. GMA was funded by a University of Hong Kong Award and holds a General Research Fund from the Hong Kong Research Grants Council. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Sainz, Jesus Grant, Struan F. A. TI Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion SO BMC MEDICINE LA English DT Editorial Material ID 3,000 SHARED CONTROLS; COMMON DISEASES; SCHIZOPHRENIA; AUTISM; ASSAY AB The hunt for the genetic contributors to complex disease has used a number of strategies, resulting in the identification of variants associated with many of the common diseases affecting society. However most of the genetic variants detected to date are single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) and fall far short of explaining the full genetic component of any given disease. An as yet untapped genomic mechanism is somatic gene conversion and deletion, which could be complicit in disease risk but has been challenging to detect in genome-wide datasets. 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Wilkinson, Jennifer A. Devine, Darragh P. TI Individual differences in vulnerability for self-injurious behavior: Studies using an animal model SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Self-injurious behavior; Individual differences; Stress; Autism; Lesch-Nyhan syndrome; Animal model ID PRADER-WILLI-SYNDROME; LESCH-NYHAN-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS; NOVELTY-SEEKING BEHAVIOR; NUCLEUS-ACCUMBENS; DOPAMINE TRANSPORTER; PREPUBERTAL RATS; RISK-FACTORS; DRUG-ABUSE; STRESS AB Self-injurious behavior (SIB) is a debilitating characteristic that is prevalent across a broad spectrum of neurodevelopmental disorders. In most of these disorders, some individuals exhibit SIB, whereas others do not. However, the neurobiological mechanisms that confer vulnerability are virtually unexplored. We examined innate characteristics that contribute to vulnerability or resistance for SIB in an animal model of the behavioral pathology. Eighteen outbred Long-Evans rats were screened for behavioral responsiveness to the mild stress of a novel environment. The rats were then categorized as high responders (HR: those rats that had the highest locomotor counts) or low responders (LR; those rats that had lower locomotor counts) by median split. All the rats were then given daily injections of the indirect monoamine agonist pemoline (150 mg/kg/day) for 10 days, and self-injury was evaluated. All 9 HR rats and 5 of the 9 LR rats exhibited self-injury. The HR rats spent more time self-injuring, injured more body sites, and caused larger areas of tissue damage than the LR rats did. Furthermore, the behavioral responsiveness to novelty stress was significantly correlated with each of these measures of self-injury. The HR rats did not exhibit substantially enhanced responses on other measures of psychostimulant action (stereotypy, grooming, locomotion, rearing). Accordingly, vulnerability to develop pemoline-induced SIB is positively correlated with, and can be predicted based upon, a behavioral measure of innate stress responsiveness. These findings suggest that characteristics that are common in developmental disorders may help predispose afflicted individuals to self-injure. The findings also extend the variety of behavioral pathologies (e.g. drug addiction) for which the HR/LR model predicts vulnerability. (C) 2010 Elsevier B.V. All rights reserved. C1 [Muehlmann, Amber M.; Wilkinson, Jennifer A.; Devine, Darragh P.] Univ Florida, Dept Psychol, Behav Neurosci Program, Gainesville, FL 32611 USA. RP Devine, DP (reprint author), Univ Florida, Dept Psychol, Behav Neurosci Program, POB 112250, Gainesville, FL 32611 USA. EM dpdevine@ufl.edu FU Cure Autism Now Foundation (Autism Speaks); Department of Defense [AR093546]; National Institute of Mental Health [MH079675] FX This research was supported by grants from the Cure Autism Now Foundation (Autism Speaks) and the Department of Defense Autism Research Program under award number AR093546, as well as an F31 fellowship (#MH079675) from the National Institute of Mental Health. Views and opinions of the authors do not reflect those of the US Army or the Department of Defense, and none of the authors have any conflict of interest to report. 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Here we administered propionic acid (PPA), a short chain fatty acid that is used as a food preservative and also is a metabolic end-product of enteric bacteria in the gut, to adolescent (41 +/- 4 days) male rats in a study of restricted/repetitive behavior, social behavior, and cognition. The goal was to further evaluate the effects of PPA in young rodents. PPA (4 mu l of 0.26 M solution) was administered intracerebroventricularly prior to each behavioral test. Rats treated with PPA displayed restricted behavioral interest to a specific object among a group of objects, impaired social behavior, and impaired reversal in a T-maze task compared to controls given phosphate buffered saline. Immunohistochemical analysis of brain tissue from PPA rats revealed reactive astrogliosis and activated microglia, indicating an innate neuroinflammatory response. These findings are consistent with our earlier findings of ASD-relevant behavioral and brain events in adult rats given PPA, and support further study of effects of PPA in young rodents by establishing similar effects in adolescent animals. (C) 2010 Elsevier B.V. All rights reserved. C1 [Cain, Donald P.] Univ Western Ontario, Dept Psychol, Grad Program Neurosci, Kilee Patchell Evans Autism Res Grp, London, ON N6A 5B8, Canada. [MacFabe, Derrick F.; Cain, Nathan E.; Boon, Francis] Univ Western Ontario, Dept Psychol, Div Dev Disabil, Kilee Patchell Evans Autism Res Grp, London, ON N6A 5B8, Canada. [MacFabe, Derrick F.; Ossenkopp, Klaus-Peter; Cain, Donald P.] Univ Western Ontario, Dept Psychiat, Div Dev Disabil, Kilee Patchell Evans Autism Res Grp, London, ON N6A 5B8, Canada. RP Cain, DP (reprint author), Univ Western Ontario, Dept Psychol, Grad Program Neurosci, Kilee Patchell Evans Autism Res Grp, 1151 Richmond St, London, ON N6A 5B8, Canada. 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Ciaramidaro, Angela Walter, Henrik Adenzato, Mauro TI Intentional minds: a philosophical analysis of intention tested through fMRI experiments involving people with schizophrenia, people with autism, and healthy individuals SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE theory of mind; communicative intention; prior intention; fMRI; schizophrenia; autism; medial prefrontal cortex; social cognition ID SOCIAL BRAIN HYPOTHESIS; COGNITIVE SCIENCE; ASPERGER-SYNDROME; MENTAL STATES; METAANALYSIS; NEUROSCIENCE; RECOGNITION; ATTRIBUTION; EVOLUTION; BEHAVIOR AB In this paper we show how we empirically tested one of the most relevant topics in philosophy of mind through a series of fMRI experiments: the classification of different types of intention. To this aim, firstly we trace a theoretical distinction among private, prospective, and communicative intentions. Second, we propose a set of predictions concerning the recognition of these three types of intention in healthy individuals, and we report the experimental results corroborating our theoretical model of intention. Third, we derive from our model predictions relevant for the domain of psychopathological functioning. In particular, we treat the cases of both hyper-intentionality (as in paranoid schizophrenia) and hypo-intentionality (as in autistic spectrum disorders). Our conclusion is that the theoretical model of intention we propose contributes to enlarge our knowledge on the neurobiological bases of intention processing, in both healthy people and in people with impairments to the neurocognitive system that underlies intention recognition. C1 [Bara, Bruno G.; Ciaramidaro, Angela; Adenzato, Mauro] Univ Turin, Ctr Cognit Sci, Dept Psychol, I-10123 Turin, Italy. [Bara, Bruno G.; Adenzato, Mauro] Univ Turin, Neurosci Inst Turin, I-10123 Turin, Italy. [Walter, Henrik] Charite, Dept Psychiat & Psychotherapy, D-13353 Berlin, Germany. RP Bara, BG (reprint author), Univ Turin, Ctr Cognit Sci, Dept Psychol, Via Po 14, I-10123 Turin, Italy. EM bruno.bara@unito.it RI Adenzato, Mauro/I-5127-2012; Walter, Henrik/O-2612-2013 FU University of Turin; Regione Piemonte FX We would like to thank Cristina Becchio, Andrew Brook, and Claudia Chiavarino for valuable comments to an early version of the manuscript. This work was supported by University of Turin (Ricerca scientifica finanziata dall'Universita 2008 "Correlati cognitivi e neurali della cognizione sociale") and by Regione Piemonte (Project: Institutions, Behavior, and Markets in Local and Global Settings). 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Hum. Neurosci. PD FEB 2 PY 2011 VL 5 AR 7 DI 10.3389/fnhum.2011.00007 PG 11 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA 748VG UT WOS:000289420300001 PM 21344005 ER PT J AU Prom-On, S Chanthaphan, A Chan, JH Meechai, A AF Prom-On, Santitham Chanthaphan, Atthawut Chan, Jonathan Hoyin Meechai, Asawin TI ENHANCING BIOLOGICAL RELEVANCE OF A WEIGHTED GENE CO-EXPRESSION NETWORK FOR FUNCTIONAL MODULE IDENTIFICATION SO JOURNAL OF BIOINFORMATICS AND COMPUTATIONAL BIOLOGY LA English DT Article DE Biological relevance; Weighted Gene Co-Expression Network; functional module ID MICROARRAY DATA; EXPRESSION DATA; CLUSTERING METHODS; GRAPH; BIOINFORMATICS; CONNECTIVITY; COREGULATION; PACKAGE; CANCER AB Relationships among gene expression levels may be associated with the mechanisms of the disease. While identifying a direct association such as a difference in expression levels between case and control groups links genes to disease mechanisms, uncovering an indirect association in the form of a network structure may help reveal the underlying functional module associated with the disease under scrutiny. This paper presents a method to improve the biological relevance in functional module identification from the gene expression microarray data by enhancing the structure of a weighted gene co-expression network using minimum spanning tree. The enhanced network, which is called a backbone network, contains only the essential structural information to represent the gene co-expression network. The entire backbone network is decoupled into a number of coherent sub-networks, and then the functional modules are reconstructed from these sub-networks to ensure minimum redundancy. The method was tested with a simulated gene expression dataset and case-control expression datasets of autism spectrum disorder and colorectal cancer studies. The results indicate that the proposed method can accurately identify clusters in the simulated dataset, and the functional modules of the backbone network are more biologically relevant than those obtained from the original approach. C1 [Prom-On, Santitham] King Mongkuts Univ Technol Thonburi, Dept Comp Engn, Fac Engn, Bangkok 10140, Thailand. [Chanthaphan, Atthawut] King Mongkuts Univ Technol Thonburi, Bioinformat & Syst Biol Program, Bangkok 10140, Thailand. [Chan, Jonathan Hoyin] King Mongkuts Univ Technol Thonburi, Sch Informat Technol, Bangkok 10140, Thailand. [Meechai, Asawin] King Mongkuts Univ Technol Thonburi, Dept Chem Engn, Fac Engn, Bangkok 10140, Thailand. RP Prom-On, S (reprint author), King Mongkuts Univ Technol Thonburi, Dept Comp Engn, Fac Engn, 126 Prachauthit Rd, Bangkok 10140, Thailand. EM santitham@cpe.kmutt.ac.th; chanthaphan@gmail.com; jonathan@sit.kmutt.ac.th; asawin.mee@kmutt.ac.th RI Prom-on, Santitham/F-6797-2012 FU National Research Council of Thailand [PK/2551-212]; National Research University FX This research project is supported by the National Research Council of Thailand (PK/2551-212) and the National Research University scheme. 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Oliver, C. Udwin, O. Woodcock, K. A. TI Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE ADHD; aggressive behaviour; Autism Spectrum Disorder; behavioural phenotype; self-injurious behaviour; Smith-Magenis syndrome ID PROFOUND MENTAL-RETARDATION; MALADAPTIVE BEHAVIOR; INTELLECTUAL DISABILITIES; INTERSTITIAL DELETION; LEARNING-DIFFICULTIES; AGGRESSIVE-BEHAVIOR; SELF-INJURY; POPULATION; CHILDREN; ADULTS AB Background The prevalence, phenomenology aetiology and correlates of four forms of challenging behaviour in 32 children and adults with Smith-Magenis syndrome (SMS) were investigated. Methods Cognitive assessments, questionnaires and semi-structured interviews were used to gather data on intellectual disability, verbal and physical aggression, destructive behaviour and self-injury and on characteristics known to be associated with aggression. Results Aggression in SMS was more prevalent (87%), but not more severe than aggression in contrast groups. Aggressive behaviour was more frequently associated with environmental contingencies (e.g. attention, escape and access to tangibles) than self-injury and destructive behaviours. Severity of challenging behaviours was associated with high impulsivity. Conclusion Aggression is seen in the majority of people with SMS. Results suggest that behavioural disinhibition and operant social reinforcement are associated with the manifestation of aggression. C1 [Oliver, C.; Woodcock, K. A.] Univ Birmingham, Sch Psychol, Birmingham B15 2TT, W Midlands, England. [Sloneem, J.] Ealing NHS Trust, Dept Psychol, London, England. [Udwin, O.] W London Mental Hlth Trust, Southall, Middx, England. RP Oliver, C (reprint author), Univ Birmingham, Sch Psychol, Birmingham B15 2TT, W Midlands, England. 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Intell. Disabil. Res. PD FEB PY 2011 VL 55 BP 138 EP 151 DI 10.1111/j.1365-2788.2010.01371.x PN 2 PG 14 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 707ZM UT WOS:000286330100004 PM 21199049 ER PT J AU Allen, K AF Allen, Kerry TI Managing Prader-Willi syndrome in families: An embodied exploration SO SOCIAL SCIENCE & MEDICINE LA English DT Article DE UK; Prader-Willi syndrome; Family; Body; Children; Food; Family; Embodiment; Weight management ID HIGH-FUNCTIONING AUTISM; CHILDREN; PARENTS; STIGMA; WEIGHT; PEOPLE AB This paper aims to explore the management of a rare chromosome disorder, Prader Willi syndrome (PWS), within families. It is particularly concerned with developing an understanding of the management of diet and other everyday practices affecting the body. People with PWS tend to experience poor muscle tone combined with food obsession. The level of control over diet needed to prevent obesity and related health complications is often lacking as individuals also experience various forms of learning disability, autistic spectrum disorders and behavioural problems. The findings are based on data from twenty qualitative case studies of English families with a young person with PWS. Analysis of management strategies highlights the centrality of embodied agency in shaping everyday practices and interactions. The significance and influence of biology within this process is particularly evident, as people with the genetic condition PWS experience embodiment and emotion in distinct ways and differently from non-PWS family members in the research sample. Focusing on the multidimensional nature of processes surrounding body management, the paper highlights three key management practices and explores how these practices are influenced by people with PWS and interpreted by family members. Three key practices are identified as: restricting access to food, keeping occupied, and use of routine. The study represents the first UK empirical sociological study of PWS and primarily adds an insight of family management of PWS to a medically dominated literature around the disorder. The findings can sensitise health and social care professionals to some potential issues for families managing PWS, and guide and develop appropriate interventions to support young people with PWS and their carers. (C) 2010 Elsevier Ltd. All rights reserved. C1 Univ Birmingham, Hlth Serv Management Ctr, Birmingham B15 2RT, W Midlands, England. RP Allen, K (reprint author), Univ Birmingham, Hlth Serv Management Ctr, Pk House,40 Edgbaston Pk Rd, Birmingham B15 2RT, W Midlands, England. EM k.allen@bham.ac.uk FU ESRC; PWSA (UK) FX The author would like to acknowledge and thank Ellen Annandale for research supervision and valuable comments. Also Jon Glasby, Jo Ellins, Russell Mannion and Martin Powell at the Health Services Management Centre, University of Birmingham, for their support. The ESRC and PWSA (UK) for funding and guidance. Most thanks must go to the 20 families who participated in the research. 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Sci. Med. PD FEB PY 2011 VL 72 IS 4 BP 460 EP 468 DI 10.1016/j.socscimed.2010.11.032 PG 9 WC Public, Environmental & Occupational Health; Social Sciences, Biomedical SC Public, Environmental & Occupational Health; Biomedical Social Sciences GA 755FB UT WOS:000289911500003 PM 21216515 ER PT J AU Patil, RR AF Patil, Rajan R. TI Ileal-lymphoid-nodular hyperplasia, non-specific colitis and pervasive developmental disorder in children (vol 351, pg 637, 1998) SO HUMAN VACCINES LA English DT Correction DE MMR; vaccine ill-effects; autism C1 SRM Univ, Sch Publ Hlth, Div Epidemiol, Madras, Tamil Nadu, India. RP Patil, RR (reprint author), SRM Univ, Sch Publ Hlth, Div Epidemiol, Madras, Tamil Nadu, India. 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TI USE OF GILLIAM ASPERGER'S DISORDER SCALE IN DIFFERENTIATING HIGH AND LOW FUNCTIONING AUTISM AND ADHD SO PSYCHOLOGICAL REPORTS LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDREN; DSM; SYMPTOMS; LANGUAGE; SKILLS AB Little is known about the validity of Gilliam Asperger's Disorder Scale (GADS), although it is widely used. This study of 199 children with high functioning autism or Asperger's Disorder, 195 with low functioning autism, and 83 with Attention Deficit Hyperactivity Disorder (ADHD) showed high classification accuracy (autism vs ADHD) for clinicians' GADS Quotients (92%), and somewhat lower accuracy (77%) for parents' Quotients. Both children with high and low functioning autism had clinicians' Quotients (M=99 and 101, respectively) similar to the Asperger's Disorder mean of 100 for the GADS normative sample. Children with high functioning autism scored significantly higher on the Cognitive Patterns subscale than children with low functioning autism, and the latter had higher scores on the remaining subscales: Social Interaction, Restricted Patterns of Behavior, and Pragmatic Skills. Using the clinicians' Quotient and Cognitive Patterns score, 70% of children were correctly identified as having high or low functioning autism or ADHD. C1 [Mayes, Susan Dickerson] Penn State Coll Med, Milton S Hershey Med Ctr, Dept Psychiat, Hershey, PA 17033 USA. [Morrow, Jill D.] Off Dev Programs, Commonwealth Penn Dept Publ Welf, Harrisburg, PA USA. [Yurich, Kirsten K. L.; Bouder, James N.] Vista Fdn, Hershey, PA USA. RP Mayes, SD (reprint author), Penn State Coll Med, Milton S Hershey Med Ctr, Dept Psychiat, H073,500 Univ Dr, Hershey, PA 17033 USA. 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A., 2006, FOCUS AUTISM OTHER D, V21, P2, DOI 10.1177/10883576060210010101 NR 21 TC 2 Z9 2 PU AMMONS SCIENTIFIC, LTD PI MISSOULA PA PO BOX 9229, MISSOULA, MT 59807-9229 USA SN 0033-2941 J9 PSYCHOL REP JI Psychol. Rep. PD FEB PY 2011 VL 108 IS 1 BP 3 EP 13 DI 10.2466/04.10.15.PR0.108.1.3-13 PG 11 WC Psychology, Multidisciplinary SC Psychology GA 743NO UT WOS:000289025300001 PM 21526585 ER PT J AU Minshew, N McFadden, K AF Minshew, Nancy McFadden, Kathyrn TI Commentary for Special Issue of Autism Research on Mouse Models in ASD: A Clinical Perspective SO AUTISM RESEARCH LA English DT Editorial Material C1 [Minshew, Nancy; McFadden, Kathyrn] Univ Pittsburgh, Sch Med, Pittsburgh, PA 15260 USA. RP Minshew, N (reprint author), Univ Pittsburgh, Sch Med, Pittsburgh, PA 15260 USA. EM minshewnj@upmc.edu; mcfaddenka@upmc.edu NR 0 TC 1 Z9 1 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1939-3792 J9 AUTISM RES JI Autism Res. PD FEB PY 2011 VL 4 IS 1 SI SI BP 1 EP 4 DI 10.1002/aur.185 PG 4 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 729JP UT WOS:000287945900001 PM 21328567 ER PT J AU Planche, P Lemonnier, E AF Planche, P. Lemonnier, E. TI Does the islet of ability on visuospatial tasks in children with high-functioning autism really indicate a deficit in global processing? SO ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE LA French DT Article DE High-functioning autism; Central coherence theory; Visiospatial functions ID ASPERGER-SYNDROME; DISEMBEDDING PERFORMANCE; INDIVIDUALS; ADOLESCENTS; PERCEPTION; MEMORY AB Objective. - The literature on autism reports regularly the presence of a peak of ability on the visuospatial tasks. The classic interpretation of this result refers to the theoretical model proposed by Frith (1989) who evokes a "lack of central coherence" in persons with autism that is a deficit in the mobilization of global processing. The research reported here has for objective to propose a reflection on the relevance of this model by asking the following question: is global processing impaired in autism or simply not mobilized for the benefit of the almost exclusive appeal to local treatment? Methods. - A group of children with high-functioning autism was compared with normally developping children (n = 15 per group), matched on age and global level of intelligence. The clinical group, 14 boys and a girl, had received a diagnosis of typical autism according to the criteria of the ICD-10 (F84.0) confirmed by ADI-R. These children all used a functional language at the time of inclusion within the study, however all of them initially presented a delay in language (mean age: 8 years and 6 months; mean total IQ: 98.07). The typically developping group, 12 boys and three girls, were from ordinary school (mean age: 9 years, mean total IQ: 106.2). Two tasks were employed for the collection of data: the Wechsler Intelligence Scale for Children-Third Edition (WISC-III) was used to estimate the total-, verbal- and performance-IQ scores of every child and to match both groups. It also permitted the evaluation and comparison of the performances of the children on the following visuospatial tasks: "picture completion", "object assembly" and "block design". The NEPSY scale permitted the estimation and comparison of the levels of performance of both groups on visuospatial functions. Results. - In terms of scores, the tasks of the WISC-III, requiring visiospatial processing as well as the global evaluation of the visiospatial functions with the NEPSY, showed the absence of significant differences between children with high-functioning autism and typical children of the same age. However, differences of strategies appeared both between the groups and, in children with autism, according to the tasks to resolve. The comparison of subtests, "arrows" and "picture completion" on one hand, and "object assembly" and "block design" on the other, showed that children with autism are capable of mobilizing correct configural processing in the first ones but not in the second. The only factor which differentiates these tasks is the appeal or not to a motor coordination. It is possible that the lack of motor ease, often described in this type of children, sometimes leads them towards strategies of low level, i.e., to local adjustments, unlike the typical children who mobilize a strategy supported on a global representation of the purpose to be reached. Conclusion. - If our results confirm the capacities of children with autism to resolve the tasks requiring a visiospatial processing, the strategies which they mobilize do not support the existence of a weakness of the central coherence. We suggest, in persons with autism, the idea of a priority granted to the local information treatment in the absence of a deficit of global or configural processing. (C) L'Encephale, Paris, 2010. C1 [Planche, P.] UFR Lettres & Sci Humaines, Dept Psychol, F-29238 Brest, France. [Lemonnier, E.] CHU Brest, Serv Pedopsychiat, F-29285 Brest, France. [Planche, P.; Lemonnier, E.] Univ Brest, Lab Eth Professionnalisme & Sante, Hop Bohars, Univ Europeenne Bretagne,JE2535, F-29820 Bohars, France. RP Planche, P (reprint author), UFR Lettres & Sci Humaines, Dept Psychol, 20 Rue Duquesne,CS 93837, F-29238 Brest, France. 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Psychiatr. Clin. Biol. Ther. PD FEB PY 2011 VL 37 IS 1 BP 10 EP 17 DI 10.1016/j.encep.2010.03.007 PG 8 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 741CL UT WOS:000288840600002 PM 21349369 ER PT J AU Saint-Andre, S Zalentein, WN Robin, D Lazartigues, A AF Saint-Andre, S. Zalentein, W. Neira Robin, D. Lazartigues, A. TI Telepsychiatry at the service of autism SO ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE LA French DT Article DE Video-conferencing; Telemedicine; Telepsychiatry; Telestaff; Autism; Network AB Introduction. - The authors report on the set-up of a telehealth system developed to facilitate exchanges between the Autism Resource Centre of Brittany (centre de ressources pour l'autisme [CRA]) located in Brest and an adult psychiatry structure of Vannes' Hospital in the Morbihan region, these sites are about 200 kilometres distant. Objectives. - This coordinated work using computer networks aims at sustaining the action of a unit specialised in autistic patients. The goal is to both render a precise diagnostic (teleexpertise) and favour assistance and support to residents and their families while instituting a medical education tool for the health professionals of this unit. Methods. - The creation of this telehealth experience, using multiple contact video conferencing, was possible thanks to the existence of the Megalis network, a high speed telecommunication system deployed in the Britanny and Loire region. The connexion of the two sites is made through Cisco type routers. Both sites are linked to the network through urban fiber optics (2-40 MMytes/s output) or Integrated Services Digital Network (ISDN) Access (64 or 128 kbytes/s output). This virtual private network (VPN) style high speed link offers a transparent and secure connexion through the service provider (Novasight) which supervises the technical organisation and the management of the address books of the various listed sites, controls access to the network and manages the network speed. As far as appliances are concerned, (video camera, LCD screen, microphone, maintenance, training), the cost is about 11,000 euros. From their experience, the authors develop the following applications: tele-staffs are meetings of about 2 hours in length. Discussion. - The authors insist on some essential rules, such as putting on the agenda the items to be discussed at the meeting, handing out to everyone the documents needed for the meeting, and designating someone in charge of guaranteeing the good progress of the meeting. His/her functions are to guarantee a precise format for the meeting, to distribute speaking time fairly, to clearly formulate the decisions made (organisation of results, summing up diagnostic results and evaluation of competencies, common institutional actions, arrangement of projects, university research and trainings, scheduling future meetings). Still using their experiences, the authors put forward several recommendations on technology, video and audio links (framing, sound checks, multidirectional microphones, video quality forcing people to limit rapid gestures...) but also insist on having fit for purpose rooms (soundproofing, neutral decor, homogenous lighting, neon for example...). Contact with patients and their family through video-conference: despite being used less, this technique has shown its pertinence especially for the evaluation of diagnostics and competencies. In practice, the families are joined by the health professionals in charge of the patient in that institution. A meeting chair must be nominated, in our case the doctor in charge of the unit for autistic persons. The doctor from the CRA sits in on the meeting as consulting expert and intervenes at the invitation of the chair. The plan for the meeting and the must-ask questions have to be determined beforehand by the two doctors, so as make sure the meeting will be fast flowing and all the relevant clinical and biographical data are collated. Families, seeing different institutions working together to help their family member despite the distances using high tech solutions, were very satisfied. Conclusion. - On the whole, the authors help us to have good insight into the obstacles (cultural, administrative, technological) and the benefits (availability of consultants with specific competencies, reduction in the waiting time, more efficient use of resources, reduction in costs and risks of travel and of CO(2) emissions...). They believe that health professionals cannot and should not completely avoid travel to the other sites because it is important to get to know the teams well, which is a prerequisite to a good video-conference meeting. This helps creating new directions for the future. (C) L'Encephale, Paris, 2010. C1 [Saint-Andre, S.; Lazartigues, A.] CHU Brest, Hop Bohars, Serv Hosp Univ Psychiat Enfant & Adolescent, CRA Bretagne Pole Adulte, F-29820 Bohars, France. [Zalentein, W. Neira; Robin, D.] EPSM Morbihan, F-56891 St Ave, France. [Saint-Andre, S.; Lazartigues, A.] Univ Bretagne Occidentale, CHU Brest, Jeune Equipe Eth Professionnalisat Sante JE2535, Brest, France. RP Saint-Andre, S (reprint author), CHU Brest, Hop Bohars, Serv Hosp Univ Psychiat Enfant & Adolescent, CRA Bretagne Pole Adulte, F-29820 Bohars, France. EM stephane.saint-andre@chu-brest.fr CR *CONS NAT ORDR MED, 2009, LIVR BLANC TEL PREC, P2009 Gammon D, 1998, J TELEMED TELECARE, V4, P33, DOI 10.1258/1357633981931353 KANNAS S, 2006, PLURIELS NOV, V62 LAMBOTIN M, 2004, MED URG, V26, P527 NEIRA W, 2008, SOC NEUROPSYCHIATR, V136, P25 Norman S, 2006, J PSYCHIATR MENT HLT, V13, P771, DOI 10.1111/j.1365-2850.2006.01033.x Pesamaa L, 2004, J TELEMED TELECARE, V10, P187, DOI 10.1258/1357633041424458 Pineau G., 2006, TELESANTE LIGNES DIR Stanberry B, 2001, Z Arztl Fortbild Qualitatssich, V95, P605 NR 9 TC 0 Z9 0 PU MASSON EDITEUR PI MOULINEAUX CEDEX 9 PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE SN 0013-7006 J9 ENCEPHALE JI Enceph.-Rev. Psychiatr. Clin. Biol. Ther. PD FEB PY 2011 VL 37 IS 1 BP 18 EP 24 DI 10.1016/j.encep.2010.03.010 PG 7 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 741CL UT WOS:000288840600003 PM 21349370 ER PT J AU Bonnet-Brilhault, F AF Bonnet-Brilhault, F. TI Genotype/phenotype correlation in autism: Genetic models and phenotypic characterization SO ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE LA French DT Article DE Autism; Genotype; Phenotype; Polygenic; Multimendelian; Endophenotype ID MENTAL-RETARDATION; DIAGNOSTIC INTERVIEW; SCHIZOPHRENIA; ASSOCIATION; PREVALENCE; DISORDERS; NLGN4; MUTATIONS; PATHWAYS; INCREASE AB Background. - Autism spectrum disorders are a class of conditions categorized by communication problems, ritualistic behaviors, and deficits in social behaviors. This class of disorders merges a heterogeneous group of neurodevelopmental disorders regarding some phenotypic and probably physiopathological aspects. Genetic basis is well admitted, however, considering phenotypic and genotypic heterogeneity, correspondences between genotype and phenotype have yet to be established. Literature findings. - To better identify such correspondences, genetic models have to be identified and phenotypic markers have to be characterized. Recent insights show that a variety of genetic mechanisms may be involved in autism spectrum disorders, i.e. single gene disorders, copy number variations and polygenic mechanisms. These current genetic models are described. Regarding clinical aspects, several approaches can be used in genetic studies. Nosographical approach, especially with the concept of autism spectrum disorders, merges a large group of disorders with clinical heterogeneity and may fail to identify clear genotype/phenotype correlations. Dimensional approach referred in genetic studies to the notion of "Broad Autism Phenotype" related to a constellation of language, personality, and social-behavioral features present in relatives that mirror the symptom domains of autism, but are much milder in expression. Studies of this broad autism phenotype may provide a potentially important complementary approach for detecting the genes involved in these domains. However, control population used in those studies need to be well characterized too. Identification of endophenotypes seems to offer more promising results. Endophenotypes, which are supposed to be more proximal markers of gene action in the same biological pathway, linking genes and complex clinical symptoms, are thought to be less genetically complex than the broader disease phenotype, indexing a limited aspect of genetic risk for the disorder as a whole. However, strategies useful to characterize such phenotypic markers (for example, electrophysiological markers) have to take into account that autism is an early neurodevelopmental disorder occurring during childhood when brain development and maturation are in process. Conclusion. - Recent genetic results have improved our knowledge in genetic basis in autism. Nevertheless, correspondences with phenotypic markers remain challenging according to phenotypic and genotypic heterogeneity. (C) L'Encephale, Paris, 2010. C1 [Bonnet-Brilhault, F.] CHRU, Ctr Univ Pedopsychiat, INSERM,U930, Equipe Autisme & Troubles Dev Psychopathol Physio, F-37000 Tours, France. [Bonnet-Brilhault, F.] Univ Tours, F-37000 Tours, France. [Bonnet-Brilhault, F.] CHRU, Serv Explorat Fonct & Neurophysiol Pedopsychiat, F-37000 Tours, France. RP Bonnet-Brilhault, F (reprint author), CHRU, Ctr Univ Pedopsychiat, INSERM,U930, Equipe Autisme & Troubles Dev Psychopathol Physio, 2 Blvd Tonnelle, F-37000 Tours, France. 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Psychiatr. Clin. Biol. Ther. PD FEB PY 2011 VL 37 IS 1 BP 68 EP 74 DI 10.1016/j.encep.2010.02.009 PG 7 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 741CL UT WOS:000288840600010 PM 21349377 ER PT J AU Bradley, EA Ames, CS Bolton, PF AF Bradley, Elspeth A. Ames, Catherine S. Bolton, Patrick F. TI Psychiatric Conditions and Behavioural Problems in Adolescents With Intellectual Disabilities: Correlates With Autism SO CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE LA English DT Article DE autism; intellectual disabilities; psychiatric; behavioural; mental health ID DIAGNOSTIC INTERVIEW; SPECTRUM DISORDERS; MENTAL-RETARDATION; GENERAL-POPULATION; SELF-INJURY; CHILDREN; PREVALENCE; ADULTS; INDIVIDUALS; TEENAGERS AB Objective: To determine whether psychiatric and behavioural disorders occur more frequently in adolescents with autism and intellectual disabilities, compared with those without autism. Method: A population-based case-control study was undertaken and 36 adolescents with autism were pairwise matched for age and IQ to 36 adolescents without autism. Caregivers were interviewed with structured psychiatric interview and questionnaire measures of psychiatric and behavioural problems. Results: Compulsive behaviours and stereotypies were significantly more common in adolescents with autism. Conclusions: Adolescents with autism are prone to compulsive behaviours and stereotypies as well as specific manifestations of anxiety, fears, and phobias. C1 [Bradley, Elspeth A.] Surrey Pl Ctr, Toronto, ON M5S 2C2, Canada. [Bradley, Elspeth A.] Univ Toronto, Dept Psychiat, Toronto, ON, Canada. [Ames, Catherine S.] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England. [Bolton, Patrick F.] Kings Coll London, MRC, Ctr Social Genet & Dev Psychiat, London WC2R 2LS, England. [Bolton, Patrick F.] Kings Coll London, Inst Psychiat, Dept Child Psychiat, London WC2R 2LS, England. RP Bradley, EA (reprint author), Surrey Pl Ctr, 2 Surrey Pl, Toronto, ON M5S 2C2, Canada. EM e.bradley@utoronto.ca RI Bolton, Patrick/E-8501-2010 OI Bolton, Patrick/0000-0002-5270-6262 FU UK National Institute for Health Research; Biomedical Research Centre for Mental Health at the Institute of Psychiatry; Kings College London; South London and Maudsley National Health Service Foundation Trust FX Professor Bolton is supported by the UK National Institute for Health Research, Biomedical Research Centre for Mental Health at the Institute of Psychiatry, Kings College London, and by The South London and Maudsley National Health Service Foundation Trust. 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J. Psychiat.-Rev. Can. Psychiat. PD FEB PY 2011 VL 56 IS 2 BP 102 EP 109 PG 8 WC Psychiatry SC Psychiatry GA 723CB UT WOS:000287482700005 PM 21333037 ER PT J AU Matson, JL Hess, JA Kozlowski, AM Neal, D AF Matson, Johnny L. Hess, Julie A. Kozlowski, Alison M. Neal, Daniene TI An examination of differences in symptom endorsements of autism spectrum disorders: A comparison between mothers and fathers SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE ASD; autism; multi-informants; parent-reported symptoms ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDREN ASD-DC; SOCIAL-SKILLS; CHALLENGING BEHAVIORS; ASPERGERS SYNDROME; RETT-SYNDROME; COMMUNICATION; DIAGNOSIS; INDIVIDUALS; DISABILITY AB Objective: Best assessment practices for Autism Spectrum Disorders (ASD) incorporate both multimodal and multi-informant assessments. However, differences in symptoms reports from multiple informants can lead to diagnostic decision-making problems. Methods: Thus, the purpose of this paper was to examine differences in the reports of symptoms of ASD between parents (i.e. mothers and fathers) of children and adolescents that met research criteria for an ASD and additionally for a group of children that were typically-developing (n=39). Results: There were differences in the number of symptoms endorsed between mothers and fathers. Conclusion: Implications of the current findings are discussed. C1 [Matson, Johnny L.; Hess, Julie A.; Kozlowski, Alison M.; Neal, Daniene] Louisiana State Univ, Baton Rouge, LA 70816 USA. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. 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Horovitz, Max Shoemaker, Mary TI The relationship between autism spectrum disorders and symptoms of conduct problems: The moderating effect of communication SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE ASD; conduct problems; communication; BISCUIT ID PERVASIVE DEVELOPMENTAL DISORDERS; BEHAVIORAL FUNCTION QABF; FUNCTIONAL ASSESSMENT; INTELLECTUAL DISABILITIES; CHALLENGING BEHAVIORS; MENTAL-RETARDATION; MODIFIED CHECKLIST; SLEEP PROBLEMS; CHILDREN; PSYCHOPATHOLOGY AB Objective: To examine the relationship between ASD diagnosis (i.e. Autism, Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) and atypical developing control) and tantrum/conduct symptoms in infants and toddlers. Then examine the moderating role of communication. Design: Analysis of Covariance was conducted for study 1 followed by hierarchical regression analyses for study 2. Methods: The Baby and Infant Screen for Children with aUtIsm Traits, Part 2 was administered to the caregivers of 774 infants and toddlers. Results: Those with autism exhibited the greatest tantrum/conduct symptoms followed by those with PDD-NOS and then atypical controls, F(3, 771) = 94.42, p = 0.003. Communication was not a significant moderator. Conclusions: Those with Autistic Disorder exhibited greater symptoms of tantrum/conduct problems, which is consistent with previous research. It seems that the relationship with communication as a moderator may differ in young children as their language skills are still in the early stages of development. C1 [Matson, Johnny L.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. EM johnmatson@aol.com CR Aiken L. 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Mandleco, Barbara Roper, Susanne Olsen Freeborn, Donna Dyches, Tina Taylor TI Religiosity, Spirituality, and Marital Relationships of Parents Raising a Typically Developing Child or a Child With a Disability SO JOURNAL OF FAMILY NURSING LA English DT Article DE families experiencing disabilities; chronic illness; marital relationships; spirituality; religiosity; parents of children with disabilities; child-rearing families; quantitative research ID GENDER-DIFFERENCES; YOUNG-CHILDREN; FAMILIES; CONFLICT; COUPLES; AUTISM; SATISFACTION; ADAPTATION; ADJUSTMENT; HOUSEHOLDS AB In order to discover if differences or relationships exist between religiosity, spirituality, and marital relationships, 111 parents raising a child with a disability (CWD) and 34 parents raising typically developing children independently completed self-report questionnaires assessing religiosity, spirituality, and marital relationships. Parents raising typically developing children scored higher on private and public religiosity and marital satisfaction than parents raising a CWD; mothers scored higher on religiosity variables than fathers. Mothers' ratings of spirituality and family type (disability or typically developing child) predicted their ratings of marital conflict. Higher spirituality and raising typically developing children were associated with higher ratings of marital satisfaction for both mothers and fathers. However, spirituality also moderated the relationship between private/public religiosity and marital satisfaction only for fathers. This information helps improve interventions for families raising CWD and adds to the literature on the interplay of religiosity/spirituality/marital relationship. C1 [Mandleco, Barbara; Freeborn, Donna] Brigham Young Univ, Coll Nursing, Provo, UT 84602 USA. [Roper, Susanne Olsen] Brigham Young Univ, Sch Family Life, Provo, UT 84602 USA. 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SO PSYCHOLOGIST LA English DT Article ID AUTISM; CHILDREN AB There is currently much controversy over the status of Asperger's syndrome (AS) and how individuals with AS should be viewed within society. Is AS a disorder in need of diagnosis and treatment, or even curing if that were possible? Or should AS be seen as a personality difference the extreme end of a spectrum of traits possessed by many individuals in the general population to some extent? Has AS become a disability solely due to unfair barriers within society? Or can the social difficulties faced by those with AS still be appropriately viewed as a direct consequence of their underlying impairments? C1 Leeds Metropolitan Univ, Leeds LS1 3HE, W Yorkshire, England. RP Elliman, L (reprint author), Leeds Metropolitan Univ, Leeds LS1 3HE, W Yorkshire, England. 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TI Love and neurology SO REVUE NEUROLOGIQUE LA French DT Review DE Love; Arginine, vasopressin; Oxytocin; Hypersexuality; Attachment ID TEMPORAL-LOBE EPILEPSY; COMPLEX PARTIAL SEIZURES; VISUAL SEXUAL STIMULI; KLUVER-BUCY-SYNDROME; PARTNER-PREFERENCE FORMATION; NUCLEUS-ACCUMBENS DOPAMINE; ANTERIOR CINGULATE CORTEX; RECEPTOR GENE OXTR; BRAIN ACTIVATION; ROMANTIC LOVE AB Introduction. - Love is a complex emotional state which is difficult to define. Considering anthropological studies, this feeling can now be divided into three distinct behaviors: lust, attraction for a specific partner and conjugal or filial attachment. State of art. - For each, recent findings have contributed to identify specific neuronal networks which are interconnected as shown by common activation of limbic and para-limbic systems. A major role of arginine/vasopressin and oxytocin has also been pointed out for mate choice and attachment promotion. In the field of neurology, studies about pathologies of love are sparse and mainly focused on sexual disorders. Pathologies of attachment like autism and borderline personality are beginning to be identified. Perspectives. - Future investigations would yield a better understanding of this complex emotional state and a better detection of new pathologies related to a major affective disability. Conclusion. - Neurosciences have contributed to highlight mechanisms involved in love. (C) 2010 Elsevier Masson SAS. All rights reserved. C1 [Collongues, N.; Cretin, B.; de Seze, J.; Blanc, F.] Hop Univ Strasbourg, Dept Neurol, F-67091 Strasbourg, France. [Collongues, N.; de Seze, J.; Blanc, F.] Univ Strasbourg, LINC, CNRS, Fac Med, Strasbourg, France. [Cretin, B.; Blanc, F.] Hop Univ Strasbourg, Serv Neuropsychol, Dept Neurol, CMRR, F-67091 Strasbourg, France. RP Collongues, N (reprint author), Hop Univ Strasbourg, Dept Neurol, 1 Pl Hop, F-67091 Strasbourg, France. 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Neurol. PD FEB PY 2011 VL 167 IS 2 BP 105 EP 113 DI 10.1016/j.neurol.2010.03.023 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA 738GB UT WOS:000288626900001 PM 20466399 ER PT J AU Manolitsi, M Botting, N AF Manolitsi, Maria Botting, Nicola TI Language abilities in children with autism and language impairment: using narrative as a additional source of clinical information SO CHILD LANGUAGE TEACHING & THERAPY LA English DT Article DE autism; language impairment; narrative; assessment; children ID COMMUNICATION IMPAIRMENTS; SPECTRUM DISORDERS; FOLLOW-UP; SLI; PREVALENCE; INDIVIDUALS; SUBGROUPS; DISCOURSE; OUTCOMES; RECALL AB Autistic Spectrum Disorder (ASD) and Specific Language Impairment (SLI) are disorders of communication that are sometimes thought to show similar structural language difficulties. Recent research has even suggested that they might be aetiologically related. However, it may be that standardized language tasks are not sensitive enough to detect similarities and differences accurately. This study involved 26 Greek children with either ASD or SLI and compared them on standardized measures of structural and pragmatic language as well as using a structured narrative task. Children with ASD were more impaired on receptive but not expressive scores from standardized language tests. In contrast, narrative measures showed significantly poorer ASD performance in expressive skills involving wider story-telling skill and in some sentence-level skills, in particular referencing, compared to peers with SLI. ASD and SLI groups also showed different relationships between structural language and other measures. 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TI Cerebellar dentate nuclei lesions reduce motivation in appetitive operant conditioning and open field exploration SO NEUROBIOLOGY OF LEARNING AND MEMORY LA English DT Article DE Cerebellum; Dentate; Motivation; Cerebellothalamocortical; Breaking point; Open field; Schizophrenia; Autism ID POSITRON-EMISSION-TOMOGRAPHY; WEAVER MUTANT MICE; PROGRESSIVE-RATIO PERFORMANCE; COGNITIVE-AFFECTIVE SYNDROME; PURKINJE-CELL DEGENERATION; MEDIAL PREFRONTAL CORTEX; EXCITOTOXIC LESIONS; MOTOR COORDINATION; SPONTANEOUS-ALTERNATION; SPATIAL ORIENTATION AB Recently identified pathways from the dentate nuclei of the cerebellum to the rostral cerebral cortex via the thalamus suggest a cerebellar role in frontal and prefrontal non-motor functioning. Disturbance of cerebellar morphology and connectivity, particularly involving these cerebellothalamocortical (CTC) projections, has been implicated in motivational and cognitive deficits. The current study explored the effects of CTC disruption on motivation in male Long Evans rats. The results of two experiments demonstrate that electrolytic lesions of the cerebellar dentate nuclei lower breaking points on an operant conditioning progressive ratio schedule and decrease open field exploration compared to sham controls. Changes occurred in the absence of motor impairment, assessed via lever pressing frequency and rotarod performance. Similar elevated plus maze performances between lesioned and sham animals indicated that anxiety did not influence task performance. Our results demonstrate hedonic and purposive motivational reduction and suggest a GC role in global motivational processes. These implications are discussed in terms of psychiatric disorders such as schizophrenia and autism, in which cerebellar damage and motivational deficits often present concomitantly. (C) 2010 Elsevier Inc. All rights reserved. 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Learn. Mem. PD FEB PY 2011 VL 95 IS 2 SI SI BP 166 EP 175 DI 10.1016/j.nlm.2010.12.009 PG 10 WC Behavioral Sciences; Neurosciences; Psychology; Psychology, Multidisciplinary SC Behavioral Sciences; Neurosciences & Neurology; Psychology GA 731ZY UT WOS:000288151100012 PM 21195786 ER PT J AU Patten, E Watson, LR AF Patten, Elena Watson, Linda R. TI Interventions Targeting Attention in Young Children With Autism SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY LA English DT Article DE autism; attention; intervention ID JOINT ATTENTION; SPECTRUM-DISORDERS; INDIVIDUAL-DIFFERENCES; PRESCHOOL-CHILDREN; SYMBOLIC PLAY; INFANTS; LANGUAGE; ATTENTIVENESS; RECOGNITION; TODDLERS AB Purpose: The ability to focus and sustain one's attention is critical for learning. Children with autism demonstrate unusual characteristics of attention from infancy. It is reasonable to assume that early anomalies in attention influence a child's developmental trajectories. Therapeutic interventions for autism often focus on core features of autism such as communication and socialization, while very few interventions specifically address attention. The purpose of this article is to provide clinicians a description of attention characteristics in children with autism and discuss interventions thought to improve attention. Method: Characteristics of attention in children with autism are presented. Intervention studies featuring measures of attention as an outcome variable for young children with autism are reviewed to present interventions that have empirical evidence for improvements in attention. Results are synthesized by strategy, specific feature of attention targeted, and results for both habilitative goals and accommodations for attention. Conclusion: Although research is not extensive, several strategies to support attention in young children with autism have been investigated. 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PD FEB 1 PY 2011 VL 20 IS 1 BP 60 EP 69 DI 10.1044/1058-0360(2010/09-0081) PG 10 WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation GA 715GP UT WOS:000286871100007 PM 20739632 ER PT J AU Martirosian, G Ekiel, A Aptekorz, M Wiechula, B Kazek, B Jankowska-Steifer, E Jozwiak, J Moskalewski, S AF Martirosian, Gayane Ekiel, Alicja Aptekorz, Malgorzata Wiechula, Barbara Kazek, Beata Jankowska-Steifer, Ewa Jozwiak, Jaroslaw Moskalewski, Stanislaw TI Fecal lactoferrin and Clostridium spp. in stools of autistic children SO ANAEROBE LA English DT Article; Proceedings Paper CT 10th Biennial Congress of the Anaerobe-Society-of-the-Americas CY JUL 07-10, 2010 CL Philadelphia, PA SP Anaerobe Soc Amer DE Autism; Clostridium perfringens; Lactoferrin; Antibiotic susceptibility ID SPECTRUM DISORDERS; PREVALENCE; MICROFLORA; DISEASE; MIND AB Stools from autistic and healthy children were studied for fecal lactoferrin, Clostridium difficile toxins, Clostridium perfringens enterotoxin and cultured for Clostridium spp. Elevated level of FLA was demonstrated in 24.4% stools, all from boys (31.25%). No toxins were detected. Clostridium spp. was isolated with similar frequency from all samples. C. perfringens were isolated significantly often from the autistic stools, intermediate sensitive strains to penicillin 19%, to clindamycin 11.3%, and to metronidazole 7.5% were detected. Further studies on fecal microflora and inflammatory mediators, with larger groups of patients, are required in order to explain their role in neurological deficits. (C) 2010 Elsevier Ltd. All rights reserved. C1 [Martirosian, Gayane; Ekiel, Alicja; Aptekorz, Malgorzata; Wiechula, Barbara] Med Univ Silesia, Dept Med Microbiol, PL-40752 Katowice, Poland. [Martirosian, Gayane; Jankowska-Steifer, Ewa; Jozwiak, Jaroslaw; Moskalewski, Stanislaw] Warsaw Med Univ, Dept Histol & Embryol, Warsaw, Poland. [Kazek, Beata] Med Univ Silesia, Dept Pediat & Child Neurol, PL-40752 Katowice, Poland. RP Martirosian, G (reprint author), Med Univ Silesia, Dept Med Microbiol, 18 Medykow Str, PL-40752 Katowice, Poland. 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PD FEB PY 2011 VL 69 IS 2 BP 426 EP 427 DI 10.1002/ana.22347 PG 2 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 733TD UT WOS:000288284900031 ER PT J AU Mengotti, P D'Agostini, S Terlevic, R De Colle, C Biasizzo, E Londero, D Ferro, A Rambaldelli, G Balestrieri, M Zanini, S Fabbro, F Molteni, M Brambilla, P AF Mengotti, Paola D'Agostini, Serena Terlevic, Robert De Colle, Cristina Biasizzo, Elsa Londero, Danielle Ferro, Adele Rambaldelli, Gianluca Balestrieri, Matteo Zanini, Sergio Fabbro, Franco Molteni, Massimo Brambilla, Paolo TI Altered white matter integrity and development in children with autism: A combined voxel-based morphometry and diffusion imaging study SO BRAIN RESEARCH BULLETIN LA English DT Article DE Age; Frontal cortex; Parietal cortex; Connectivity; Gray matter ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDER; CORPUS-CALLOSUM; WORKING-MEMORY; FRONTAL-CORTEX; NORMAL BRAIN; MRI; ABNORMALITIES; FMRI; PATTERNS AB Background: A combined protocol of voxel-based morphometry (VBM) and diffusion-weighted imaging (DWI) was applied to investigate the neurodevelopment of gray and white matter in autism. Methods: Twenty children with autism (mean age = 7 +/- 12.75 years old; age range: 4-14; 2 girls) and 22 matched normally developing children (mean age = 7.68 +/-2.03 years old; age range: 4-11; 2 girls) underwent magnetic resonance imaging (MRI). VBM was employed by applying the Template-o-Matic toolbox (TOM), a new approach which constructs the age-matched customized template for tissue segmentation. Also, the apparent diffusion coefficients (ADC) of water molecules were obtained from the analysis of DWI. Regions of interests (ROIs), standardized at 5 pixels, were placed in cortical lobes and corpus callosum on the non-diffusion weighted echo-planar images (6 = 0) and were then automatically transferred to the corresponding maps to obtain the ADC values. Results: Compared to normal children, individuals with autism had significantly: (1) increased white matter volumes in the right inferior frontal gyrus, the right fusiform gyrus, the left precentral and supplementary motor area and the left hippocampus, (2) increased gray matter volumes in the inferior temporal gyri bilaterally, the right inferior parietal cortex, the right superior occipital lobe and the left superior parietal lobule, and (3) decreased gray matter volumes in the right inferior frontal gyrus and the left supplementary motor area. Abnormally increased ADC values in the bilateral frontal cortex and in the left side of the genu of the corpus callosum were also reported in autism. Finally, age correlated negatively with lobar and callosal ADC measurements in individuals with autism, but not in children with normal development. Conclusions: These findings suggest cerebral dysconnectivity in the early phases of autism coupled with an altered white matter maturation trajectory during childhood potentially taking place in the frontal and parietal lobes, which may represent a neurodevelopmental marker of the disorder, possibly accounting for the cognitive and social deficits. (C) 2010 Elsevier Inc. All rights reserved. C1 [Terlevic, Robert; Balestrieri, Matteo; Brambilla, Paolo] Univ Udine, Interuniv Ctr Behav Neurosci, DPMSC, Sect Psychiat, I-33100 Udine, Italy. [Mengotti, Paola] Ass La Nostra Famiglia, Udine, Italy. [Mengotti, Paola] Int Sch Adv Studies SISSA Trieste, Cognit Neurosci Sector, Trieste, Italy. [D'Agostini, Serena; De Colle, Cristina; Biasizzo, Elsa] AOU, Neuroradiol Sect, Dept Radiol, I-33100 Udine, Italy. [Londero, Danielle; Zanini, Sergio; Fabbro, Franco; Molteni, Massimo; Brambilla, Paolo] Sci Inst IRCCS E Medea, Udine, Italy. [Ferro, Adele; Rambaldelli, Gianluca] Univ Verona, Interuniv Ctr Behav Neurosci, DMSP, Sect Psychiat & Clin Psychol, I-37100 Verona, Italy. RP Brambilla, P (reprint author), AOU, Dipartimento Patol & Med Clin & Sperimentale, Cattedra Psichiatria, Ple S Maria della Misericordia 15, I-33100 Udine, Italy. EM paolo.brambilla@uniud.it RI Rambaldelli, Gianluca/E-5939-2010 OI Rambaldelli, Gianluca/0000-0001-6921-6553 FU Ministry of Health FX This study was in part supported by grants from the Ministry of Health (Progetto Strategico [Strategic Project] entitled "Mental Health in Childhood and Adolescence: an investigation of biological and psychosocial risk factors, early indicators, and family burden indicators, in the development of evidence-based prevention and intervention models for severe mental illness") to Dr. Molteni and to Dr. Brambilla and by grants from the APIRE and from the IRCCS "E. Medea" to Dr. Brambilla. 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PD FEB 1 PY 2011 VL 84 IS 2 BP 189 EP 195 DI 10.1016/j.brainresbull.2010.12.002 PG 7 WC Neurosciences SC Neurosciences & Neurology GA 733YZ UT WOS:000288301700013 PM 21146593 ER PT J AU Wilson, P Puckering, C McConnachie, A Marwick, H Reissland, N Gillberg, C AF Wilson, Philip Puckering, Christine McConnachie, Alex Marwick, Helen Reissland, Nadja Gillberg, Christopher TI Inexpensive video cameras used by parents to record social communication in epidemiological investigations in early childhood-A feasibility study SO INFANT BEHAVIOR & DEVELOPMENT LA English DT Article DE Social interaction; Video camera; Communication; Autism; Infants ID MOTHER-INFANT INTERACTIONS; AUTISM SPECTRUM DISORDER; DEPRESSED MOTHERS; HOME VIDEOTAPES; POSTNATAL DEPRESSION; EARLY RECOGNITION; CHILDREN; MOVIES; IMPACT; LIFE AB We tested the feasibility of parents recording social interactions with their infants using inexpensive camcorders, as a potential method of effective, convenient, and economical large scale data gathering on social communication. Participants were asked to record two short video clips during either play or a mealtime, and return the data. Sixty-five video clips (32 pairs) were returned by 33 families, comprising 8.5% of families contacted, 44.6% of respondents and 51.6% of those sent a camcorder, and the general visual and sound quality of the data was assessed. Audio and video quality were adequate for analysis in 85% of clips and several social behaviours, including social engagement and contingent responsiveness, could be assessed in 97% of clips. We examined two quantifiable social behaviours quantitatively in both adults and infants: gaze direction and duration, and vocalization occurrence and duration. It proved difficult for most observers to obtain a simultaneous clear view of the parents and infant's face. Video clips obtained by parents are informative and usable for analysis. Further work is required to establish the acceptability of this technique in longitudinal studies of child development and to maximize the return of usable data. (C) 2010 Elsevier Inc. All rights reserved. C1 [Wilson, Philip; Gillberg, Christopher] Univ Glasgow, Fac Med, Glasgow G12 8QQ, Lanark, Scotland. [Puckering, Christine] Royal Hosp Sick Children, Glasgow G3 8SJ, Lanark, Scotland. [McConnachie, Alex] Univ Glasgow, Robertson Ctr Biostat, Glasgow G12 8QQ, Lanark, Scotland. [Marwick, Helen] Univ Strathclyde, Natl Ctr Autism Studies, Glasgow G1 1XQ, Lanark, Scotland. [Reissland, Nadja] Univ Durham, Dept Psychol, Durham DH1 3HP, England. RP Wilson, P (reprint author), Gen Practice & Primary Care, 1 Horselethill Rd, Glasgow G12 9LX, Lanark, Scotland. 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[Hervas, Amaia; Balmana, Noemi] Hosp Univ Mutua Terrassa, Child & Adolescent Mental Hlth Unit, Terrassa, Spain. [Vilella, Elisabet] Univ Rovira & Virgili, Hosp Psiquiatr Univ Inst Pere Mata, IISPV, E-43201 Reus, Spain. [Aguilera, Francisco] Univ Rovira & Virgili, Hosp Sanatori Villablanca, IISPV, Vilaseca, Spain. [Cusco, Ivon; del Campo, Miguel] Univ Pompeu Fabra, Unitat Genet, Barcelona, Spain. [del Campo, Miguel] Hosp Univ Vall Hebron, Programa Med Mol & Genet, Barcelona, Spain. [Caballero, Rafaela] Univ Seville, Dept Psychiat, Sch Med, Seville, Spain. [De Diego-Otero, Yolanda] Hosp Carlos Haya, Fdn IMABIS, Lab Invest, Malaga, Spain. [Ribases, Marta] Hosp Univ Vall Hebron, Dept Psychiat, Barcelona, Spain. RP Bayes, M (reprint author), CNAG, Parc Cient Barcelona PCB,Baldiri Reixac 4,Torre 1, Barcelona 08028, Spain. EM mbayes@pcb.ub.cat RI de Diego, yolanda/I-6070-2012; Cusco, I/H-2096-2014; Toma, Claudio/L-7853-2014 OI Cusco, I/0000-0003-2104-9332; Toma, Claudio/0000-0003-3901-7507 CR Barrett JC, 2005, BIOINFORMATICS, V21, P263, DOI 10.1093/bioinformatics/bth457 Bockmann J, 2002, J NEUROCHEM, V83, P1013, DOI 10.1046/j.1471-4159.2002.01204.x Choi J, 2005, J NEUROSCI, V25, P869, DOI 10.1523/JNEUROSCI.3212-04.2005 Durand CM, 2007, NAT GENET, V39, P25, DOI 10.1038/ng1933 Flagg EJ, 2005, NEUROSCI LETT, V386, P82, DOI 10.1016/j.neulet.2005.05.037 Gonzalez JR, 2007, BIOINFORMATICS, V23, P644, DOI 10.1093/bioinformatics/btm025 Kim MH, 2009, J NEUROSCI, V29, P1586, DOI 10.1523/JNEUROSCI.4306-08.2009 Kleinhans NM, 2008, BRAIN RES, V1221, P115, DOI 10.1016/j.brainres.2008.04.080 Lainhart JE, 2006, AM J MED GENET C, V142C, P33, DOI 10.1002/ajmg.c.30080 Ribases M, 2009, BIOL PSYCHIAT, V66, P926, DOI 10.1016/j.biopsych.2009.06.024 ROMMELSE NN, 2010, EUROPEAN CHILD ADOLE Smalley SL, 2005, AM J MED GENET B, V135B, P79, DOI 10.1002/ajmg.b.30141 Sun T, 2005, SCIENCE, V308, P1794, DOI 10.1126/science.1110324 NR 13 TC 6 Z9 7 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0022-3956 J9 J PSYCHIATR RES JI J. Psychiatr. Res. PD FEB PY 2011 VL 45 IS 2 BP 280 EP 282 DI 10.1016/j.jpsychires.2010.09.001 PG 3 WC Psychiatry SC Psychiatry GA 728WZ UT WOS:000287906500022 PM 20888579 ER PT J AU Kuchinke, L Schneider, D Kotz, SA Jacobs, AM AF Kuchinke, Lars Schneider, Dana Kotz, Sonja A. Jacobs, Arthur M. TI Spontaneous but not explicit processing of positive sentences impaired in Asperger's syndrome: Pupillometric evidence SO NEUROPSYCHOLOGIA LA English DT Article DE Asperger's syndrome; Emotional prosody; Pupillary responses; Task dependency ID HIGH-FUNCTIONING AUTISM; PUPILLARY RESPONSES; SPECTRUM DISORDERS; FACIAL EXPRESSIONS; NORMAL ADULTS; PROSODY; FACES; PERCEPTION; CHILDREN; DEFICITS AB Emotional prosody provides important cues for understanding the emotions of others in every day communication. Asperger's syndrome (AS) is a developmental disorder characterised by pronounced deficits in socio-emotional communication, including difficulties in the domain of prosody processing. We measured pupillary responses as an index of emotional prosodic processing when 15 participants with AS and 19 non-clinical control participants listened to positive, negative and neutral prosodic sentences. This occurred under a spontaneous and an explicit task instruction. In the explicit processing condition, the AS group and the non-clinical controls showed increased pupil dilations to positively and negatively intoned sentences when judging the valence of that prosodic sentence. This suggests higher processing demands for emotionally arousing information, as the effect was not found in comparison to neutrally intoned sentences. In the spontaneous processing condition, controls also responded with increased pupil dilations to positively intoned sentences, whilst individuals with AS showed increased pupil dilations to negative sentences. The latter result is further supported by diminished ratings of emotionally intense sentences in the AS group compared to healthy controls. Perception and recognition of positively valenced sentences in individuals with AS appears impaired and dependent on the general task set-up. Diminished pupil dilations in spontaneous positive processing conditions as well as reduced positive valence ratings give strong indications for a general negative processing bias of verbal information for adult individuals diagnosed with AS. (C) 2010 Elsevier Ltd. All rights reserved. C1 [Kuchinke, Lars] Ruhr Univ Bochum, Dept Psychol, D-44780 Bochum, Germany. [Schneider, Dana] Univ Queensland, Sch Psychol, Brisbane, Qld, Australia. [Kotz, Sonja A.] Neurocognit Rhythm Commun Grp, Max Planck Inst Human Cognit & Brain Sci, Leipzig, Germany. [Kuchinke, Lars; Jacobs, Arthur M.] Free Univ Berlin, DINE, D-1000 Berlin, Germany. RP Kuchinke, L (reprint author), Ruhr Univ Bochum, Dept Psychol, Univ Str 150, D-44780 Bochum, Germany. EM kuchinke@zedat.fu-berlin.de FU Deutsche Forschungsgemeinschaft [207]; German Science Foundation [FOR-499] FX We would like to thank Julia Rivolier and Kerstin Schek for their help with the data collection and the two anonymous reviewer for their fruitful comments on earlier versions of the manuscript. This work was supported by the Cluster of Excellence 302 'Languages of Emotion' coordinated by the Free University Berlin and funded by the Deutsche Forschungsgemeinschaft (Grant 207 to L.K., S.A.K., A.M.J.). S.A.K. was funded by the German Science Foundation (FOR-499). 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Bertone, Armando Soulieres, Isabelle Mendrek, Adrianna Ahad, Pierre Mottron, Laurent Zeffiro, Thomas A. TI Atypical processing of auditory temporal complexity in autistics SO NEUROPSYCHOLOGIA LA English DT Article DE Auditory cortex; Enhanced perceptual functioning model; Functional magnetic resonance imaging ID EVENT-RELATED POTENTIALS; ASPERGER-SYNDROME; MACAQUE MONKEYS; DIAGNOSTIC INTERVIEW; ABSOLUTE PITCH; SPEECH SOUNDS; CORTEX; CHILDREN; PERCEPTION; FMRI AB Autistics exhibit a contrasting combination of auditory behavior, with enhanced pitch processing abilities often coexisting with reduced orienting towards complex speech sounds. Based on an analogous dissociation observed in vision, we expected that autistics' auditory behavior with respect to complex sound processing may result from atypical activity in non-primary auditory cortex. We employed fMRI to explore the neural basis of complex non-social sound processing in 15 autistic and 13 non-autistics, using a factorial design in which auditory stimuli varied in spectral and temporal complexity. Spectral complexity was modulated by varying the harmonic content, whereas temporal complexity was modulated by varying frequency modulation depth. The detection task was performed similarly by autistics and non-autistics. In both groups, increasing spectral or temporal complexity was associated with activity increases in primary (Heschl's gyrus) and non-primary (anterolateral and posterior superior temporal gyrus) auditory cortex Activity was right-lateralized for spectral and left-lateralized for temporal complexity. Increasing temporal complexity was associated with greater activity in anterolateral superior temporal gyrus in non-autistics and greater effects in Heschl's gyrus in autistics. While we observed similar hierarchical functional organization for auditory processing in both groups, autistics exhibited diminished activity in non-primary auditory cortex and increased activity in primary auditory cortex in response to the presentation of temporally, but not of spectrally complex sounds. Greater temporal complexity effects in regions sensitive to acoustic features and reduced temporal complexity effects in regions sensitive to more abstract sound features could represent a greater focus towards perceptual aspects of speech sounds in autism. (C) 2010 Elsevier Ltd. All rights reserved. C1 [Samson, Fabienne; Bertone, Armando; Soulieres, Isabelle; Mottron, Laurent] CETEDUM, Montreal, PQ, Canada. [Samson, Fabienne; Bertone, Armando; Mendrek, Adrianna; Mottron, Laurent] Univ Montreal, Dept Psychiat, Ctr Rech Fernand Seguin, Montreal, PQ H3C 3J7, Canada. [Hyde, Krista L.; Ahad, Pierre] McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada. 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Reeve, Kenneth F. Sidener, David W. TI USING STIMULUS CONTROL PROCEDURES TO TEACH INDOOR ROCK CLIMBING TO CHILDREN WITH AUTISM SO BEHAVIORAL INTERVENTIONS LA English DT Article ID PHYSICAL EXERCISE; CONDITIONAL DISCRIMINATION; ACTIVITY SCHEDULES; FADING PROCEDURES; RETARDED PERSONS; ADULTS; ADOLESCENTS; BEHAVIORS; ERRORLESS; KINDERGARTNERS AB The present study evaluated an intervention package for teaching route following to two children with autism at an indoor rock-climbing gym. The intervention consisted of multiple within-stimulus fading procedures in combination with errorless learning procedures, positive reinforcement, an error correction procedure, and conditional discrimination training technologies. The results demonstrated that both participants learned to climb at least 10 ft/3m on specified routes. Furthermore, both participants learned to climb an entire 22-ft/6.7-m wall for at least one of three different routes without any errors in a regular rock-climbing gym setting. The acquisition of this skill provides children with autism with an additional option for leisure participation with others. Copyright (C) 2010 John Wiley & Sons, Ltd. C1 [Kaplan-Reimer, Hannah; Sidener, Tina M.; Reeve, Kenneth F.] Caldwell Coll, Dept Psychol, Caldwell, NJ 07006 USA. [Sidener, David W.] Garden Acad, Maplewood, NJ 07040 USA. RP Kaplan-Reimer, H (reprint author), Caldwell Coll, Dept Psychol, 120 Bloomfield Ave, Caldwell, NJ 07006 USA. 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L., 1984, J CHILD ADOL PSYCHOP, V1, P15 WATTERS RG, 1980, J AUTISM DEV DISORD, V10, P379, DOI 10.1007/BF02414814 WEBER RC, 1992, EXCEPT CHILDREN, V59, P77 WEHMAN P, 1983, AUTISM ADOLESCENTS A, P111 NR 45 TC 0 Z9 0 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1072-0847 J9 BEHAV INTERVENT JI Behav. Intervent. PD FEB PY 2011 VL 26 IS 1 BP 1 EP 22 DI 10.1002/bin.315 PG 22 WC Psychology, Clinical SC Psychology GA 708XS UT WOS:000286398200001 ER PT J AU Gould, E Tarbox, J O'Hora, D Noone, S Bergstrom, R AF Gould, Evelyn Tarbox, Jonathan O'Hora, Denis Noone, Steve Bergstrom, Ryan TI TEACHING CHILDREN WITH AUTISM A BASIC COMPONENT SKILL OF PERSPECTIVE-TAKING SO BEHAVIORAL INTERVENTIONS LA English DT Article ID HIGH-FUNCTIONING ADULTS; JOINT ATTENTION; EXECUTIVE FUNCTION; MIND AB Perspective-taking is an area of human functioning that is rarely studied by behavior analysts but likely entails a complex repertoire of verbal and relational behavior. Perspective-taking is generally acknowledged to be an important skill for successful social functioning and a significant amount of research has documented deficits in these skills in individuals with autism. However, little previous research has examined behavioral intervention procedures for remediating these deficits. The current study evaluated the effectiveness of a multiple exemplar training procedure for teaching three children with autism to identify what other people can see, a simple component skill of perspective-taking. All participants demonstrated generalization to novel table-top tasks but generalization to natural environment probes was less consistent. Results are discussed in terms of the behavioral history required to develop perspective-taking repertoires, as well as for the development of effective interventions. Descriptors: Perspective-taking, autism, Theory of Mind, conditional discrimination, and multiple exemplar training. Copyright (C) 2010 John Wiley & Sons, Ltd. C1 [Tarbox, Jonathan; Bergstrom, Ryan] Ctr Autism & Related Disorders, Tarzana, CA 91356 USA. [Gould, Evelyn; Noone, Steve] Bangor Univ, Bangor, Gwynedd, Wales. [O'Hora, Denis] Natl Univ Ireland, Galway, Ireland. RP Tarbox, J (reprint author), Ctr Autism & Related Disorders, 19019 Ventura Blvd,3rd Floor, Tarzana, CA 91356 USA. 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Intervent. PD FEB PY 2011 VL 26 IS 1 BP 50 EP 66 DI 10.1002/bin.320 PG 17 WC Psychology, Clinical SC Psychology GA 708XS UT WOS:000286398200004 ER PT J AU Schumacher, BI Rapp, JT AF Schumacher, Brittany I. Rapp, John T. TI INCREASING COMPLIANCE WITH HAIRCUTS IN A CHILD WITH AUTISM SO BEHAVIORAL INTERVENTIONS LA English DT Article ID BEHAVIOR; PHOBIA AB Using a changing-criterion design, we evaluated the effects of providing a preferred edible item and escape from sitting contingent on a child's compliance with sitting during haircuts. Results indicated that the intervention eliminated the child's escape responses and increased his sitting to a duration that permitted regular haircuts by his mother. Follow-up sessions showed that the participant's increased compliance during haircuts continued for over 2 months. Copyright (C) 2010 John Wiley & Sons, Ltd. C1 [Schumacher, Brittany I.; Rapp, John T.] St Cloud State Univ, St Cloud, MN 56301 USA. RP Rapp, JT (reprint author), St Cloud State Univ, Educ Bldg,A 261,720 4th Ave S, St Cloud, MN 56301 USA. EM jtrapp@stcloudstate.edu CR Altabet SC, 2002, J DEV PHYS DISABIL, V14, P297, DOI 10.1023/A:1016032623478 Cuvo AJ, 2010, RES AUTISM SPECT DIS, V4, P168, DOI 10.1016/j.rasd.2009.09.001 Mudford OC, 2009, J APPL BEHAV ANAL, V42, P165, DOI 10.1901/jaba.2009.42-165 Piazza CC, 2008, DEV DISABIL RES REV, V14, P174, DOI 10.1002/ddrr.22 Rapp JT, 2005, BEHAV THER, V36, P101, DOI 10.1016/S0005-7894(05)80058-9 Ricciardi JN, 2006, J APPL BEHAV ANAL, V39, P445, DOI 10.1901/jaba.2006.158-05 RICHLING SM, J APPL BEHA IN PRESS Shabani DB, 2006, J APPL BEHAV ANAL, V39, P449, DOI 10.1901/jaba.2006.30-05 NR 8 TC 1 Z9 1 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1072-0847 J9 BEHAV INTERVENT JI Behav. Intervent. PD FEB PY 2011 VL 26 IS 1 BP 67 EP 75 DI 10.1002/bin.321 PG 9 WC Psychology, Clinical SC Psychology GA 708XS UT WOS:000286398200005 ER PT J AU Bain, ME Martin, PL Kojis, S Trout, SB Kurtzberg, J AF Bain, M. E. Martin, P. L. Kojis, S. Trout, S. B. Kurtzberg, J. TI MEETING THE CHALLENGE: DEVELOPING A MODEL TO CARE FOR AN ADOLESCENT PATIENT WITH LEUKEMIA AND SEVERE AUTISM SO BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION LA English DT Meeting Abstract CT Annual Meeting of the American-Society-for-Blood-and-Marrow-Transplantation(BMT) Tandem CY FEB 17-21, 2011 CL Honolulu, HI SP Amer Soc Blood Marrow Transplantat, Ctr Int Blood Marrow Transplant Res C1 [Bain, M. E.; Martin, P. L.; Kojis, S.; Trout, S. B.; Kurtzberg, J.] Duke Univ, Med Ctr, Durham, NC USA. NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1083-8791 J9 BIOL BLOOD MARROW TR JI Biol. Blood Marrow Transplant. PD FEB PY 2011 VL 17 IS 2 SU 2 MA 357 BP S283 EP S283 DI 10.1016/j.bbmt.2010.12.391 PG 1 WC Hematology; Immunology; Transplantation SC Hematology; Immunology; Transplantation GA 721JX UT WOS:000287350500357 ER PT J AU [Anonymous] AF [Anonymous] TI Study of toddlers with autism suggests that targeted intervention may benefit social skills SO EXPERT REVIEW OF NEUROTHERAPEUTICS LA English DT News Item CR Landa RJ, 2011, J CHILD PSYCHOL PSYC, V52, P13, DOI 10.1111/j.1469-7610.2010.02288.x NR 1 TC 0 Z9 0 PU EXPERT REVIEWS PI LONDON PA UNITEC HOUSE, 3RD FL, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON N3 1QB, ENGLAND SN 1473-7175 J9 EXPERT REV NEUROTHER JI Expert Rev. Neurother. PD FEB PY 2011 VL 11 IS 2 BP 162 EP 162 PG 1 WC Clinical Neurology; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA 727TB UT WOS:000287823400005 ER PT J AU Dudley, E Hassler, F Thome, J AF Dudley, Ed Haessler, Frank Thome, Johannes TI Profiling for novel proteomics biomarkers in neurodevelopmental disorders SO EXPERT REVIEW OF PROTEOMICS LA English DT Review DE ADHD; autism; biomarker; CSF; proteomics; serum; urine ID SELDI-TOF-MS; AUTISTIC SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; DECREASED SERUM-LEVELS; MASS-SPECTROMETRY; PROTEIN BIOMARKERS; POTENTIAL BIOMARKERS; CEREBROSPINAL-FLUID; OVARIAN-CANCER; GROWTH-FACTOR AB Protein biomarker discovery from biological fluids, such as serum, has been widely applied to disorders such as cancer and has more recently also been utilized in neuro-psychiatric disorders with relatively clear biological causes, such as Alzheimer's disease and schizophrenia. The application of the associated technologies for the identification of protein biomarker signatures in neurodevelopmental disorders, such as autism spectrum disorder and attention deficit hyperactivity disorder, is comparatively less well established. The aim of this article is to provide an overview of the various protocols available for such analysis, discuss reports in which these techniques have been previously applied in biomarker discovery/validation in neurodevelopmental disorders, and consider the future development of this area of research. C1 [Dudley, Ed; Thome, Johannes] Swansea Univ, Sch Med, Acad Unit Psychiat, Swansea, W Glam, Wales. [Dudley, Ed] Swansea Univ, Sch Med, Inst Mass Spectrometry, Swansea, W Glam, Wales. [Haessler, Frank] Univ Rostock, Dept Psychiat Neurol Psychosomat Med & Psychother, D-2500 Rostock 1, Germany. RP Thome, J (reprint author), Swansea Univ, Sch Med, Acad Unit Psychiat, Swansea, W Glam, Wales. 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Proteomics PD FEB PY 2011 VL 8 IS 1 BP 127 EP 136 DI 10.1586/EPR.10.97 PG 10 WC Biochemical Research Methods SC Biochemistry & Molecular Biology GA 730RL UT WOS:000288051800015 PM 21329432 ER PT J AU Fischer, J Hammerschmidt, K AF Fischer, J. Hammerschmidt, K. TI Ultrasonic vocalizations in mouse models for speech and socio-cognitive disorders: insights into the evolution of vocal communication SO GENES BRAIN AND BEHAVIOR LA English DT Review DE Autism; communication; evolution; FOXP2; mice; neuroligin; speech; ultrasound; vocalization ID BASAL GANGLIA; FEMALE MICE; NONHUMAN PRIMATE; LANGUAGE DISORDER; FOXP2 EXPRESSION; KNOCKOUT MICE; INFANT RATS; HOUSE MICE; CALLS; BEHAVIOR AB Comparative analyses used to reconstruct the evolution of traits associated with the human language faculty, including its socio-cognitive underpinnings, highlight the importance of evolutionary constraints limiting vocal learning in non-human primates. After a brief overview of this field of research and the neural basis of primate vocalizations, we review studies that have addressed the genetic basis of usage and structure of ultrasonic communication in mice, with a focus on the gene FOXP2 involved in specific language impairments and neuroligin genes (NL-3 and NL-4) involved in autism spectrum disorders. Knockout of FoxP2 leads to reduced vocal behavior and eventually premature death. Introducing the human variant of FoxP2 protein into mice, in contrast, results in shifts in frequency and modulation of pup ultrasonic vocalizations. Knockout of NL-3 and NL-4 in mice diminishes social behavior and vocalizations. Although such studies may provide insights into the molecular and neural basis of social and communicative behavior, the structure of mouse vocalizations is largely innate, limiting the suitability of the mouse model to study human speech, a learned mode of production. Although knockout or replacement of single genes has perceptible effects on behavior, these genes are part of larger networks whose functions remain poorly understood. In humans, for instance, deficiencies in NL-4 can lead to a broad spectrum of disorders, suggesting that further factors (experiential and/or genetic) contribute to the variation in clinical symptoms. The precise nature as well as the interaction of these factors is yet to be determined. C1 [Fischer, J.; Hammerschmidt, K.] German Primate Ctr, Cognit Ethol Lab, D-37077 Gottingen, Germany. [Fischer, J.] Univ Gottingen, Courant Res Ctr Evolut Social Behav, Gottingen, Germany. RP Fischer, J (reprint author), German Primate Ctr, Cognit Ethol Lab, Kellnerweg 4, D-37077 Gottingen, Germany. EM fischer@cog-ethol.de RI Zimmermann, Elke/D-2281-2015; Fischer, Julia/B-6674-2008 OI Fischer, Julia/0000-0002-5807-0074 FU German Excellence Initiative FX The authors wish to thank Maria Luisa Scattoni for the invitation to contribute to this volume, two anonymous reviewers for their comments on the manuscript; Hannelore Ehrenreich, Konstantin Radyushkin, and Nils Brose, as well as Wolfgang Enard, Svante Paabo and the many other people involved for the fruitful collaborations. We would also like to thank English-for-the-Sciences specialist M. Neff-Heinrich for her copyediting contributions. Funding from the German Excellence Initiative is gratefully acknowledged. 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Klin, Ami TI Managing Complexity: Impact of Organization and Processing Style on Nonverbal Memory in Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE ROCF; ASD; Episodic memory; Information processing; Weak central coherence; Executive functioning ID OBSESSIVE-COMPULSIVE DISORDER; HIGH-FUNCTIONING AUTISM; VISUOSPATIAL ANALYSIS; DEVELOPMENTAL-TRENDS; CHILDREN; FIGURE; PERFORMANCE; ADHD; INDIVIDUALS; ADOLESCENTS AB The contributions of cognitive style and organization to processing and recalling a complex novel stimulus were examined by comparing the Rey Osterrieth Complex Figure (ROCF) test performance of children, adolescents, and adults with ASD to clinical controls (CC) and non-impaired controls (NC) using the Developmental Scoring System. The ROCF task involves a complex structure with strong organizational or integrative processing demands. The individuals with ASD relied on a predominantly part-oriented strategy to cope with the complexity of the task and did not make the typical developmental shift to a configurational approach. Both processing style and organization (whether pieces of information were perceived as connected to one another in a meaningful way) contributed to structural recall in the ASD group. C1 [Tsatsanis, Katherine D.; Volkmar, Fred R.; Klin, Ami] Yale Child Study Ctr, New Haven, CT 06520 USA. [Noens, Ilse L. J.; Illmann, Cornelia L.; Pauls, David L.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. [Noens, Ilse L. J.] Katholieke Univ Leuven, Parenting & Special Educ Res Grp, B-3000 Louvain, Belgium. [Noens, Ilse L. J.] Katholieke Univ Leuven, Leuven Autism Res Org, B-3000 Louvain, Belgium. [Schultz, Robert T.] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA. RP Tsatsanis, KD (reprint author), Yale Child Study Ctr, 230 S Frontage Rd, New Haven, CT 06520 USA. 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Autism Dev. Disord. PD FEB PY 2011 VL 41 IS 2 BP 135 EP 147 DI 10.1007/s10803-010-1139-z PG 13 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500001 PM 21128108 ER PT J AU Cicchetti, DV Koenig, K Klin, A Volkmar, FR Paul, R Sparrow, S AF Cicchetti, Domenic V. Koenig, Kathy Klin, Ami Volkmar, Fred R. Paul, Rhea Sparrow, Sara TI From Bayes Through Marginal Utility to Effect Sizes: A Guide to Understanding the Clinical and Statistical Significance of the Results of Autism Research Findings SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Clinical significance in autism research ID INTRACLASS CORRELATION COEFFICIENT; INTERRATER RELIABILITY; WEIGHTED KAPPA; AGREEMENT; CRITERIA; SCALES; TESTS AB The objectives of this report are: (a) to trace the theoretical roots of the concept clinical significance that derives from Bayesian thinking, Marginal Utility/Diminishing Returns in Economics, and the "just noticeable difference", in Psychophysics. 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Lee, Kang TI Exploring the Ability to Deceive in Children with Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Lie-telling; Deception; False belief; Theory of mind ID FALSE BELIEF; VERBAL DECEPTION; MIND; ATTRIBUTION; BEHAVIOR; MARKER; LIES; AGE AB The present study explored the relations among lie-telling ability, false belief understanding, and verbal mental age. We found that children with autism spectrum disorder (ASD), like typically developing children, can and do tell antisocial lies (to conceal a transgression) and white lies (in politeness settings). However, children with ASD were less able than typically developing children to cover up their initial lie; that is, children with ASD had difficulty exercising semantic leakage control-the ability to maintain consistency between their initial lie and subsequent statements. 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Autism Dev. Disord. PD FEB PY 2011 VL 41 IS 2 BP 185 EP 195 DI 10.1007/s10803-010-1045-4 PG 11 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500006 PM 20556501 ER PT J AU De Pauw, SSW Mervielde, I Van Leeuwen, KG De Clercq, BJ AF De Pauw, Sarah S. W. Mervielde, Ivan Van Leeuwen, Karla G. De Clercq, Barbara J. TI How Temperament and Personality Contribute to the Maladjustment of Children With Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Temperament; Personality; Problem behavior; Maladjustment; Spectrum hypothesis ID SPECTRUM QUOTIENT AQ; DEVELOPMENTAL PSYCHOPATHOLOGY; BEHAVIOR QUESTIONNAIRE; FUNCTIONING AUTISM; DISORDERS; CHILDHOOD; TRAITS; ADOLESCENTS; MODEL; LIFE AB To test the spectrum hypothesis-postulating that clinical and non-clinical samples are primarily differentiated by mean-level differences-, this study evaluates differences in parent-rated temperament, personality and maladjustment among a low-symptom (N = 81), a high-symptom (N = 94) ASD-group, and a comparison group (N = 500). These classic spectrum hypothesis tests are extended by adding tests for similarity in variances, reliabilities and patterns of covariation between relevant variables. Children with ASD exhibit more extreme means, except for dominance. 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Van Reet, Jennifer TI Object Identification and Imagination: An Alternative to the Meta-Representational Explanation of Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Imagination; Objects; Meta-representational theory ID SYMBOLIC PLAY; CHILDREN; PRETENSE; DEFICITS; INFANTS; SEARCH; MIND AB Past research has focused on pretend play in infants with autism because it is considered an early manifestation of symbolic or imaginative thinking. Contradictory research findings have challenged the meta-representational model. The intent of this paper is to propose that pretend play is the behavioral manifestation of developing imaginative ability, the complexity of which is determined by the degree of progression from part-object/inanimate object to whole-object/human object identification. We propose that autism is the result of non-completion of this process to varying degrees. This not only affects early pretend play behaviors, but also later social, language, and cognitive skills derived from the level of imagination-based sophistication achieved during foundational periods available for early identification. C1 [Woodard, Cooper R.] Wheaton Coll, Groden Ctr, Providence, RI 02906 USA. [Van Reet, Jennifer] Providence Coll, Dept Psychol, Providence, RI 02918 USA. RP Woodard, CR (reprint author), Wheaton Coll, Groden Ctr, 86 Mt Hope Ave, Providence, RI 02906 USA. 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PD FEB PY 2011 VL 41 IS 2 BP 213 EP 226 DI 10.1007/s10803-010-1044-5 PG 14 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500008 PM 20532603 ER PT J AU Yuhas, J Cordeiro, L Tassone, F Ballinger, E Schneider, A Long, JM Ornitz, EM Hessl, D AF Yuhas, Jennifer Cordeiro, Lisa Tassone, Flora Ballinger, Elizabeth Schneider, Andrea Long, James M. Ornitz, Edward M. Hessl, David TI Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE PPI; FMR1 gene; Sensorimotor gating; mGluR5; Prepulse inhibition; Startle ID PERVASIVE DEVELOPMENTAL DISORDERS; PREPULSE INHIBITION; BEHAVIORAL-PHENOTYPE; ACOUSTIC STARTLE; YOUNG MALES; MICE; DEFICITS; MODEL; ABNORMALITIES; INDIVIDUALS AB Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS-A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS-A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating. C1 [Yuhas, Jennifer; Cordeiro, Lisa; Ballinger, Elizabeth; Schneider, Andrea; Hessl, David] Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA. [Schneider, Andrea; Hessl, David] Univ Calif Davis, Med Ctr, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA. [Tassone, Flora] Univ Calif Davis, Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USA. [Long, James M.] James Long Co, Caroga Lake, NY USA. [Ornitz, Edward M.] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA. [Ornitz, Edward M.] Univ Calif Los Angeles, Brain Res Inst, Los Angeles, CA 90024 USA. RP Hessl, D (reprint author), Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND Inst, 2825 50th St, Sacramento, CA 95817 USA. EM david.hessl@ucdmc.ucdavis.edu RI Schneider, Andrea/F-5800-2013 OI Schneider, Andrea/0000-0002-4674-7244 CR Arai S, 2008, NEUROPSYCHOPHARMACOL, V33, P3164, DOI 10.1038/npp.2008.41 Bailey DB, 2001, J AUTISM DEV DISORD, V31, P165 Bortolato M, 2007, PSYCHOPHARMACOLOGY, V194, P361, DOI 10.1007/s00213-007-0845-5 CODYHAZLETT HC, 2009, J NEURODEVELOPMENTAL, V1, P81 de Vrij FMS, 2008, NEUROBIOL DIS, V31, P127, DOI 10.1016/j.nbd.2008.04.002 Dolen G, 2007, NEURON, V56, P955, DOI 10.1016/j.neuron.2007.12.001 Estecio MRH, 2002, J AUTISM DEV DISORD, V32, P35 Fendt M, 1999, BRAIN RES, V833, P81, DOI 10.1016/S0006-8993(99)01525-5 Frankland PW, 2004, MOL PSYCHIATR, V9, P417, DOI 10.1038/sj.mp.4001432 Fujikawa-Brooks S, 2010, INT J AUDIOL, V49, P129, DOI 10.3109/14992020903289790 Harris SW, 2008, AM J MENT RETARD, V113, P427, DOI 10.1352/2008.113:427-438 HESSL D, 2008, AM J MED GENET B, V150, P545 KODSI MH, 1995, BRAIN RES, V684, P26, DOI 10.1016/0006-8993(95)00372-W LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Lord C., 2002, AUTISM DIAGNOSTIC OB McAlonan GM, 2002, BRAIN, V125, P1594, DOI 10.1093/brain/awf150 McBride SMJ, 2005, NEURON, V45, P753, DOI 10.1016/j.neuron.2005.01.038 ORNITZ EM, 1993, J AUTISM DEV DISORD, V23, P619, DOI 10.1007/BF01046105 Perry W, 2007, BIOL PSYCHIAT, V61, P482, DOI 10.1016/j.biopsych.2005.09.025 REISS AL, 1992, AM J MED GENET, V43, P35, DOI 10.1002/ajmg.1320430106 Rogers SJ, 2001, J DEV BEHAV PEDIATR, V22, P409 Rutter M., 2003, SOCIAL COMMUNICATION Schmajuk NA, 2005, BEHAV NEUROSCI, V119, P1546, DOI 10.1037/0735-7044.119.6.1546 Tassone F, 2008, J MOL DIAGN, V10, P43, DOI 10.2353/jmoldx.2008.070073 Wassink TH, 2001, PSYCHIATR GENET, V11, P57, DOI 10.1097/00041444-200106000-00001 Wolf R, 2007, PSYCHOPHARMACOLOGY, V194, P93, DOI 10.1007/s00213-007-0824-x Yan QJ, 2005, NEUROPHARMACOLOGY, V49, P1053, DOI 10.1016/j.neuropharm.2005.06.004 Zou D, 2007, NEUROPHARMACOLOGY, V52, P476, DOI 10.1016/j.neuropharm.2006.08.016 NR 28 TC 20 Z9 21 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 FEB PY 2011 VL 41 IS 2 BP 248 EP 253 DI 10.1007/s10803-010-1040-9 PG 6 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500012 PM 20521090 ER PT J AU Arron, K Oliver, C Moss, J Berg, K Burbidge, C AF Arron, K. Oliver, C. Moss, J. Berg, K. Burbidge, C. TI The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE affect; challenging behaviour; autism spectrum disorder; behavioural phenotype; hyperactivity; impulsivity ID PRADER-WILLI-SYNDROME; SMITH-MAGENIS-SYNDROME; DE-LANGE-SYNDROME; INTELLECTUAL DISABILITIES PREVALENCE; FRAGILE-X-SYNDROME; MALADAPTIVE BEHAVIOR; MENTAL-RETARDATION; ADULTS; CHILDREN; POPULATION AB Background Self-injurious and aggressive behaviours are reported as components of some behavioural phenotypes but there are few studies comparing across syndrome groups. In this study we examined the prevalence of these behaviours and the associated person characteristics in seven genetic syndromes. Methods Questionnaire data on self-injury and aggression, mood, hyperactivity, autism spectrum disorder and repetitive behaviour were collected on Angelman (AS, n = 104), Cornelia de Lange (CdLS, 101), Cri du Chat (CdCS, 58), Fragile X (FXS, 191), Lowe (LS, 56), Prader-Willi (PWS, 189) and Smith-Magenis (SMS, 42) syndromes. Results A significantly higher prevalence of self-injury was evident in CdCS, CdLS, FXS, PWS, LS and SMS. The prevalence of aggression was significantly heightened in AS and SMS. Self-injury was associated with repetitive and impulsive behaviour in CdLS, FXS, PWS and LS. Impulsivity and overactivity were significantly higher in those showing aggression across all syndrome groups. Conclusions These data quantify the risk for self-injury and aggression in the syndromes studied with implications for early intervention. The associations between these behaviours and person characteristics both within and between syndromes warrant further research. C1 [Arron, K.; Oliver, C.; Moss, J.; Berg, K.; Burbidge, C.] Univ Birmingham, Sch Psychol, Birmingham B15 2TT, W Midlands, England. RP Oliver, C (reprint author), Univ Birmingham, Sch Psychol, Birmingham B15 2TT, W Midlands, England. EM c.oliver@bham.ac.uk RI Moss, Jo/C-8812-2009 CR Arron Kate, 2006, Am J Ment Retard, V111, P184, DOI 10.1352/0895-8017(2006)111[184:EOSCOS]2.0.CO;2 Berney TP, 1999, ARCH DIS CHILD, V81, P333 Berument SK, 1999, BRIT J PSYCHIAT, V175, P444, DOI 10.1192/bjp.175.5.444 BODFISH JW, 1995, AM J MENT RETARD, V100, P183 Burbidge C, 2008, ACTIVITY QUESTIONNAI BURBIDGE C, J INTELLECT IN PRESS Clarke DJ, 2002, BRIT J PSYCHIAT, V180, P358, DOI 10.1192/bjp.180.4.358 Clarke DJ, 1998, AM J MENT RETARD, V103, P264, DOI 10.1352/0895-8017(1998)103<0264:PBAWDP>2.0.CO;2 Clarke DJ, 1996, J INTELL DISABIL RES, V40, P159, DOI 10.1111/j.1365-2788.1996.tb00617.x Collins MSR, 2002, J INTELL DISABIL RES, V46, P133, DOI 10.1046/j.1365-2788.2002.00361.x Cooper SA, 2009, J INTELL DISABIL RES, V53, P217, DOI 10.1111/j.1365-2788.2008.01127.x Cooper SA, 2009, J INTELL DISABIL RES, V53, P200, DOI 10.1111/j.1365-2788.2008.01060.x Dykens EM, 1997, DEV MED CHILD NEUROL, V39, P752 Dykens EM, 1999, AM J MENT RETARD, V104, P67, DOI 10.1352/0895-8017(1999)104<0067:MBDIPS>2.0.CO;2 Dykens EM, 1998, J INTELL DISABIL RES, V42, P481, DOI 10.1046/j.1365-2788.1998.4260481.x Einfeld SL, 1999, AM J MED GENET, V82, P123, DOI 10.1002/(SICI)1096-8628(19990115)82:2<123::AID-AJMG4>3.0.CO;2-C Emerson E, 2001, RES DEV DISABIL, V22, P67, DOI 10.1016/S0891-4222(00)00062-7 Finucane B, 2001, AM J MENT RETARD, V106, P52, DOI 10.1352/0895-8017(2001)106<0052:COSIBI>2.0.CO;2 Hall S, 2001, DEV MED CHILD NEUROL, V43, P745, DOI 10.1017/S0012162201001360 Hanley GP, 2003, J APPL BEHAV ANAL, V36, P147, DOI 10.1901/jaba.2003.36-147 Hassiotis A, 2008, J APPL RES INTELLECT, V21, P438, DOI 10.1111/j.1468-3148.2007.00413.x Hastings RP, 2002, J INTELLECT DEV DIS, V27, P149, DOI 10.1080/1366825021000008657 Holland AJ, 2003, PSYCHOL MED, V33, P141, DOI 10.1017/S0033291702006736 Hyman P, 2002, AM J MENT RETARD, V107, P146, DOI 10.1352/0895-8017(2002)107<0146:SIBSRA>2.0.CO;2 KENWORTHY L, 1995, AM J MED GENET, V59, P283, DOI 10.1002/ajmg.1320590304 KUSCHLICK A, 1973, PSYCHOL MED, V3, P466 Lesniak-Karpiak K, 2003, J AUTISM DEV DISORD, V33, P55, DOI 10.1023/A:1022230504787 McClintock K, 2003, J INTELL DISABIL RES, V47, P405, DOI 10.1046/j.1365-2788.2003.00517.x Moss J, 2009, J AUTISM DEV DISORD, V39, P572, DOI 10.1007/s10803-008-0655-6 Oliver C., 1995, J CHILD PSYCHOL PSYC, V30, P909, DOI DOI 10.1111/J.1469-7610.1995.TB01341.X OLIVER C, 1993, J AUTISM DEV DISORD, V23, P91, DOI 10.1007/BF01066421 Oliver C, 2009, J INTELL DISABIL RES, V53, P575, DOI 10.1111/j.1365-2788.2009.01179.x Oliver C., J AUTISM DE IN PRESS OLIVER C, 1987, J MENT DEFIC RES, V31, P147 Petty J, 2005, CURR OPIN PSYCHIATR, V18, P484, DOI 10.1097/01.yco.0000179484.62391.dc Powell SB, 1996, AM J MENT RETARD, V101, P41 Rojahn J, 2004, AM J MENT RETARD, V109, P21, DOI 10.1352/0895-8017(2004)109<21:RBPCAB>2.0.CO;2 Ross E, 2008, MOOD INTEREST PLEASU Ross E, 2003, BRIT J CLIN PSYCHOL, V42, P81, DOI 10.1348/014466503762842039 Strachan R, 2009, RES DEV DISABIL, V30, P1095, DOI 10.1016/j.ridd.2009.03.005 Summers JA, 1999, AM J MENT RETARD, V104, P376, DOI 10.1352/0895-8017(1999)104<0376:DPOBFI>2.0.CO;2 Symons FJ, 2003, AM J MED GENET A, V118A, P115, DOI 10.1002/ajmg.a.10078 Taylor L, 2008, J INTELL DISABIL RES, V52, P830, DOI 10.1111/j.1365-2788.2008.01066.x NR 43 TC 48 Z9 49 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0964-2633 J9 J INTELL DISABIL RES JI J. Intell. Disabil. Res. PD FEB PY 2011 VL 55 BP 109 EP 120 DI 10.1111/j.1365-2788.2010.01337.x PN 2 PG 12 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 707ZM UT WOS:000286330100001 PM 20977515 ER PT J AU Hayes, S McGuire, B O'Neill, M Oliver, C Morrison, T AF Hayes, S. McGuire, B. O'Neill, M. Oliver, C. Morrison, T. TI Low mood and challenging behaviour in people with severe and profound intellectual disabilities SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE challenging behaviour; depression; intellectual disability; mood ID MENTAL-RETARDATION; PSYCHOMETRIC PROPERTIES; PSYCHIATRIC-DISORDERS; DIAGNOSTIC-CRITERIA; ADULTS; DEPRESSION; SYMPTOMS; INDIVIDUALS; PLEASURE AB Background We investigated the relationship between low mood and challenging behaviour in people in the severe and profound range of intellectual disability, while controlling for the presence of potentially confounding variables such as diagnosis of autism, physical and sensory problems and ill health. Methods The key workers of 52 people with severe and profound intellectual disability completed measures of depression, communication, challenging behaviour and provided information on relevant demographic and health variables. Results Using the Mood, Interest and Pleasure Questionnaire for classification of mood, a significant difference was found between a 'low mood' and 'normothymic' group in the reported occurrence of challenging behaviour. This difference remained even when confounding variables such as the presence of autism, health and sensory difficulties were controlled. The frequency and severity of challenging behaviour was predicted by measures indicating the presence of low mood. Conclusion People with severe and profound show clear and measurable signs of low mood, and in this relatively small sample of institutionalised individuals, low mood was associated with challenging behaviour. C1 [Hayes, S.; McGuire, B.] Natl Univ Ireland, Clin Psychol Programme, Sch Psychol, Galway 00617336517, Ireland. [O'Neill, M.] Dept Psychol, Mayo, Ireland. [Oliver, C.] Univ Birmingham, Dept Psychol, Birmingham, W Midlands, England. [Morrison, T.] Univ Saskatchewan, Dept Psychol, Saskatoon, SK S7N 0W0, Canada. RP Hayes, S (reprint author), Natl Univ Ireland, Clin Psychol Programme, Sch Psychol, Galway 00617336517, Ireland. EM samira_hayes@hotmail.com CR CHARLOT LR, 1993, AM J MENT RETARD, V98, P408 Clarke D, 2003, J INTELL DISABIL RES, V47, P43, DOI 10.1046/j.1365-2788.47.s1.7.x Davis JP, 1997, AUST NZ J PSYCHIAT, V31, P232, DOI 10.3109/00048679709073826 EVENHUIS H, 2001, J APPL RES INTELLECT, V14, P174 Fletcher R., 2007, DIAGNOSTIC MANUAL IN Fletcher R. L., 2009, J CLIN PSYCHIAT, V70, P1 FRASER W, 1994, MENTAL HLTH MENTAL R, P19 Holland A. 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Intell. Disabil. Res. PD FEB PY 2011 VL 55 BP 182 EP 189 DI 10.1111/j.1365-2788.2010.01355.x PN 2 PG 8 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 707ZM UT WOS:000286330100007 PM 21129068 ER PT J AU Charlot, L Abend, S Ravin, P Mastis, K Hunt, A Deutsch, C AF Charlot, L. Abend, S. Ravin, P. Mastis, K. Hunt, A. Deutsch, C. TI Non-psychiatric health problems among psychiatric inpatients with intellectual disabilities SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE intellectual disabilities; aggressive behavior; psychoactive medications ID DEVELOPMENTAL-DISABILITIES; MENTAL-RETARDATION; PROBLEM BEHAVIOR; PSYCHOTROPIC MEDICATION; PHYSICAL HEALTH; ADULTS; PEOPLE; PREVALENCE; DISORDERS; SYMPTOMS AB Background Physical distress resulting from medical problems has been found to cause increased behaviour problems in patients with intellectual disabilities (ID). Despite this fact, little has been documented on the medical problems of individuals with ID admitted for inpatient psychiatric care. We conducted an exploratory investigation based on a retrospective chart review of the medical problems and medications for 198 people with ID who had been admitted to a specialised inpatient psychiatric unit. Most patients were referred for admission because of aggressive, disruptive and self-injurious behaviours. The average length of stay was 17.6 days. Methods We tallied the total number of medical problems and medications listed in the patients' discharge summaries. Because longer stays are disruptive, costly and associated with greater overall impairment, we examined the relationship between length of stay and frequency of discharge medical diagnoses. We also assessed whether or not the number of psychoactive medications correlated with the number of medical diagnoses. The effects of other demographic and diagnostic variables on rates of medical diagnoses and medications were also evaluated, including gender, age group (16-25, 26-45, 46-60, > 60), level of ID (mild, moderate or severe ID) and diagnosis of an autism spectrum disorder or Down syndrome (DS). Results Inpatients with a higher number of medical diagnoses had longer lengths of stay (Spearman r = +0.32, P < 0.0001). There was a significant correlation between number of psychoactive medications and number of medical problems (Spearman r = +0.32, P < 0.0001). The most frequent medical comorbidity was constipation, reported in 60% of the inpatients (n = 118), while gastro-esophageal reflux disease was identified in 38% (n = 75). Older inpatients had an increased number of medical problems, as might be expected, but a diagnosis of an autism spectrum disorder, gender and level of ID had no detectible effect on rates of either medical diagnoses or medications. There were only 13 inpatients with DS; in this modest sample, it was found that they had higher rates of osteoarthritis, cardiac problems, hearing loss, hypothyroidism and sleep apnoea than peers without DS, as is consistent with previous findings on overrepresented conditions in this trisomy. Conclusions In the present study, individuals with ID admitted for inpatient psychiatric care exhibited high rates of medical problems, and these were associated with duration of inpatient stay. Based on these findings, further investigation of the effects of medical problems on behaviour among individuals with ID admitted for inpatient psychiatric care is warranted. C1 [Charlot, L.; Ravin, P.; Mastis, K.] UMASS Med Ctr, Worcester, MA 01655 USA. [Abend, S.] Healthcare Qual Managment Grp, Framingham, MA USA. [Hunt, A.; Deutsch, C.] Eunice Kennedy Shriver Ctr Mental Retardat Inc, UMASS Med Sch, Waltham, MA USA. RP Charlot, L (reprint author), UMASS Med Ctr, 55 Lake Ave N, Worcester, MA 01655 USA. 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PD FEB PY 2011 VL 55 BP 199 EP 209 DI 10.1111/j.1365-2788.2010.01294.x PN 2 PG 11 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 707ZM UT WOS:000286330100009 PM 20546095 ER PT J AU Ketelaars, MP Hermans, SIA Cuperus, J Jansonius, K Verhoeven, L AF Ketelaars, Mieke Pauline Hermans, Suzanne Irene Alphonsus Cuperus, Juliane Jansonius, Kino Verhoeven, Ludo TI Semantic Abilities in Children With Pragmatic Language Impairment: The Case of Picture Naming Skills SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH LA English DT Article DE pragmatic language impairment; naming accuracy; error type; definition accuracy; semantic cues ID COMMUNICATION-CHECKLIST; DISORDER; DEFICITS; REPRESENTATION; PRESCHOOLERS; GESTURE; AUTISM; ERRORS; ADHD AB Purpose: The semantic abilities of children with pragmatic language impairment (PLI) are subject to debate. The authors investigated picture naming and definition skills in 5-year-olds with PLI in comparison to typically developing children. Method: 84 children with PLI and 80 age-matched typically developing children completed receptive vocabulary, picture naming, and definition tasks. Results: The PLI group scored lower on the receptive vocabulary and picture naming tasks. Word length and frequency affected naming accuracy in both groups. Children with PLI showed higher numbers of semantic errors, nonrelated errors, and omissions and circumlocutions. The error-type distribution differed between groups: PLI children showed disproportionate levels of nonrelated errors. In the definition task, PLI children showed lower information accuracy for accurately named pictures and comparable accuracy for incorrectly named pictures. Qualitative analysis suggested a high incidence of pragmatically inappropriate definitions for the PLI group. 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TI A transcranial magnetic stimulation study of corticospinal excitability during the observation of meaningless, goal-directed, and social behaviour SO NEUROSCIENCE LETTERS LA English DT Article DE Social cognition; Mirror neurons; Transcranial magnetic stimulation; Primary motor cortex; Premotor cortex; Mirror systems ID MIRROR-NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; MOTOR FACILITATION; FACIAL EXPRESSIONS; MATCHING SYSTEM; SHARED MANIFOLD; EMPATHY; DYSFUNCTION; OTHERS; FMRI AB The effects of action observation on cortical processes have typically been interpreted in the context of so-called "mirror systems" (i.e., brain regions active during both the experience and observation of behaviour, emotion, or sensation), and viewed as subserving social cognition via a self-other matching mechanism. If such cortical processes do indeed facilitate social understanding, then cortical activity during action observation might be further enhanced when observing behaviour embedded within a social, interactive context. Transcranial magnetic stimulation (TMS) was administered to 27 healthy adults, and corticospinal excitability (CSE), which is a putative measure of the mirror system, was examined during the observation of (1) meaningless behaviour, (2) goal-directed behaviour, and (3) social behaviour. Although CSE was enhanced during the observation of both goal-directed and social behaviour, there was no difference between the two. These findings suggest that while the putative human mirror system is responsive to goal-directed behaviour, it may not be more responsive to behaviour that occurs within a social context. (C) 2010 Elsevier Ireland Ltd. All rights reserved. C1 [Enticott, Peter G.] The Alfred, Monash Alfred Psychiat Res Ctr, Melbourne, Vic 3004, Australia. [Donne, Claire M.; Enticott, Peter G.; Fitzgerald, Paul B.] Monash Univ, Sch Psychol & Psychiat, Monash Alfred Psychiat Res Ctr, Clayton, Vic 3800, Australia. [Enticott, Peter G.; Rinehart, Nicole J.] Monash Univ, Sch Psychol & Psychiat, Ctr Dev Psychiat & Psychol, Clayton, Vic 3800, Australia. RP Enticott, PG (reprint author), The Alfred, Monash Alfred Psychiat Res Ctr, Level 1,Old Baker Bldg, Melbourne, Vic 3004, Australia. EM peter.enticott@monash.edu RI Fitzgerald, Paul/A-1225-2008 OI Fitzgerald, Paul/0000-0003-4217-8096 FU NARSAD FX We wish to thank Dr. Sally Herring, Ms. Jessica Oliva, and Dr. Rebecca Segrave for their assistance with the creation of the visual stimuli. We also thank Dr. Jerome Maller for his assistance with the experimental procedure. This work was supported by a NARSAD Young Investigator Award to PGE. 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Individ. Differ. PD FEB PY 2011 VL 50 IS 3 BP 430 EP 433 DI 10.1016/j.paid.2010.10.024 PG 4 WC Psychology, Social SC Psychology GA 712RH UT WOS:000286683400022 ER PT J AU Bargiacchi, A AF Bargiacchi, A. TI Precocious signs of autism SO PSN-PSYCHIATRIE SCIENCES HUMAINES NEUROSCIENCES LA French DT Article DE Autism; Early symptoms; Screening; Prognosis; Ethics ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDER; YOUNG-CHILDREN; HOME MOVIES; EARLY RECOGNITION; BRAIN; INFANTS; REGRESSION; TODDLERS; LIFE AB There is now consensus about the value of early intervention in autism spectrum disorders, in terms of prognosis, cognitive, social and emotional development. However, the introduction of early treatment depends on early diagnosis, and clinicians lack reliable tools for assessing the risk of autism before the age of two. Furthermore, the heterogeneity of this condition and the evolutionary profile make it difficult to diagnose early. Thus, early detection of autism, although it is a public health issue, faces many difficulties, and there is still a significant delay in diagnosis; a source of suffering for children and their families. In this paper, we summarize the various early signs of autism to which the clinician should be alert during the first months of a child's life. We discuss the differences in evolutionary trajectory that may lead to pervasive developmental disorder. Finally, we propose establishing an autism screening programme in the general population and opportunities for early treatment. C1 Hop Robert Debre, Serv Pedopsychiat, F-75019 Paris, France. RP Bargiacchi, A (reprint author), Hop Robert Debre, Serv Pedopsychiat, 48 Blvd Serrurier, F-75019 Paris, France. 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Sci. Hum. Neurosc. PD FEB PY 2011 VL 9 IS 1 BP 19 EP 30 DI 10.1007/s11836-010-0158-3 PG 12 WC Neurosciences SC Neurosciences & Neurology GA 729TW UT WOS:000287974800004 ER PT J AU Holding, E Bray, MA Kehle, TJ AF Holding, Erica Bray, Melissa A. Kehle, Thomas J. TI DOES SPEED MATTER? A COMPARISON OF THE EFFECTIVENESS OF FLUENCY AND DISCRETE TRIAL TRAINING FOR TEACHING NOUN LABELS TO CHILDREN WITH AUTISM SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID INTERVENTIONS; DISORDERS AB This study used an alternating-treatment design to compare the efficacy of discrete trial training (DTT) with fluency training (FT) for the acquisition, stimulus generalization, and retention of noun labels in children with autism. Four elementary-age students diagnosed with autism were taught to expressively label nouns using a DTT format and a FT format. A between-treatments comparison of the total number of nouns retained at 6 weeks post intervention was also conducted to compare retention. 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Schools PD FEB PY 2011 VL 48 IS 2 BP 166 EP 183 DI 10.1002/pits.20535 PG 18 WC Psychology, Educational SC Psychology GA 711BN UT WOS:000286560800008 ER PT J AU Rodier, P Miller, RK Brent, RL AF Rodier, Patricia Miller, Richard K. Brent, Robert L. TI Does treatment of premature labor with terbutaline increase the risk of autism spectrum disorders? SO AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY LA English DT Editorial Material ID PRETERM LABOR; CHILDREN; BRAIN; NEUROINFLAMMATION; NEUROTOXICANT; ACTIVATION; MUTATIONS; EXPOSURE; TWINS; RATS C1 [Brent, Robert L.] DuPont Hosp Children, Jefferson Med Coll, Dept Pediat, Wilmington, DE 19899 USA. [Brent, Robert L.] DuPont Hosp Children, Jefferson Med Coll, Dept Pathol, Wilmington, DE 19899 USA. [Brent, Robert L.] DuPont Hosp Children, Jefferson Med Coll, Dept Radiol, Wilmington, DE 19899 USA. [Rodier, Patricia; Miller, Richard K.] Univ Rochester, Sch Med & Dent, Dept Obstet & Gynecol, Rochester, NY 14642 USA. RP Brent, RL (reprint author), DuPont Hosp Children, Jefferson Med Coll, Dept Pediat, Box 269, Wilmington, DE 19899 USA. 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J. Obstet. Gynecol. PD FEB PY 2011 VL 204 IS 2 BP 91 EP 94 DI 10.1016/j.ajog.2010.11.030 PG 4 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA 715HV UT WOS:000286874900006 PM 21284962 ER PT J AU Beaud, L Quentel, JC AF Beaud, L. Quentel, J. -C. TI Parental experiences of autism and diagnosis issue. I. Early recognition and concerns SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Autism; Concerns; Diagnosis; Identification; Parent ID SPECTRUM DISORDERS; EARLY IDENTIFICATION; YOUNG-CHILDREN; AGE; DISTURBANCES; INFANTS; TIME AB The purpose of the present study is to provide the current state of knowledge concerning the contribution of parental experiences in early identification and diagnostic patterns of children with autism spectrum disorder. As developmental disorder, professionals' diagnosis is necessarily informed by parental recognition of symptoms and their nature. Timing of initial symptom recognition and parents' initial concerns differ from timing of diagnosis. In addition, parental concerns are not confined to the specific symptoms of autism that professionals differ. We try to examine factors which determines whether early recognition and diagnosis of autistic disorder in children. (C) 2010 Elsevier Masson SAS. All rights reserved. C1 [Beaud, L.; Quentel, J. -C.] Univ Europeenne Bretagne, Dept Sociol Langage, F-35043 Rennes, France. RP Beaud, L (reprint author), Univ Europeenne Bretagne, Dept Sociol Langage, Pl Recteur Henri Le Moal,CS 24307, F-35043 Rennes, France. 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Med.-Psychol. PD FEB PY 2011 VL 169 IS 1 BP 54 EP 62 DI 10.1016/j.amp.2010.11.008 PG 9 WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology, Multidisciplinary SC Pharmacology & Pharmacy; Psychiatry; Psychology GA 725BC UT WOS:000287619200014 ER PT J AU Dababnah, S Parish, SL Brown, LT Hooper, SR AF Dababnah, Sarah Parish, Susan L. Brown, Lauren Turner Hooper, Stephen R. TI Early screening for autism spectrum disorders: A primer for social work practice SO CHILDREN AND YOUTH SERVICES REVIEW LA English DT Article DE Autism; Screening; Diagnosis ID PERVASIVE DEVELOPMENTAL DISORDERS; MODIFIED CHECKLIST; YOUNG-CHILDREN; BEHAVIOR PROBLEMS; PARENTING STRESS; FOLLOW-UP; 2-YEAR-OLDS STAT; AGED CHILDREN; UNITED-STATES; MENTAL-HEALTH AB Early identification of autism spectrum disorders has been demonstrated to result in material benefits to children, their families, and society by reducing problem behaviors, improving academic achievement and school outcomes, and increasing social participation. Early intervention also reduces the costs and associated morbidity of autism spectrum disorders across the life span. Despite significant advances in the ability of screening tools to detect autism spectrum disorders in young children, previous research has found that most children are not identified until they are in school, and past the age at which early intervention services are most beneficial. Social workers, given their presence across a wide range of service settings, are uniquely positioned to identify preschool children with autism spectrum disorders and refer them for additional diagnostic services and evidence-based interventions. In this paper, a basic primer on autism spectrum disorders is provided, along with descriptions of the various screening tools appropriate for children ages 3 and younger that social workers can implement in their own practice settings. Policy and practice implications are discussed. (C) 2010 Elsevier Ltd. All rights reserved. C1 [Parish, Susan L.] Brandeis Univ, Heller Sch Social Policy & Management, Waltham, MA 02254 USA. [Dababnah, Sarah] Univ N Carolina, Sch Social Work, Chapel Hill, NC USA. [Brown, Lauren Turner; Hooper, Stephen R.] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC USA. [Hooper, Stephen R.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. [Hooper, Stephen R.] Univ N Carolina, Dept Pediat, Chapel Hill, NC USA. RP Parish, SL (reprint author), Brandeis Univ, Heller Sch Social Policy & Management, Waltham, MA 02254 USA. 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Youth Serv. Rev. PD FEB PY 2011 VL 33 IS 2 BP 265 EP 273 DI 10.1016/j.childyouth.2010.09.009 PG 9 WC Family Studies; Social Work SC Family Studies; Social Work GA 719RG UT WOS:000287225800007 ER PT J AU Meidenbauer, JJ Mantis, JG Seyfried, TN AF Meidenbauer, Joshua J. Mantis, John G. Seyfried, Thomas N. TI The EL mouse: A natural model of autism and epilepsy SO EPILEPSIA LA English DT Review DE Autism spectrum disorders (ASDs); Epilepsy; Seizures; Hyperactivity; Social communication; Myoclonic jumping ID SEIZURE SUSCEPTIBILITY PHENOTYPES; CORTICOTROPIN-RELEASING-FACTOR; MYOCLONIC JUMPING BEHAVIOR; SPECTRUM DISORDERS; SPONTANEOUS STEREOTYPY; ANIMAL-MODEL; DEPTH EEG; E1 MICE; PSYCHIATRIC-DISORDERS; PAROXYSMAL DISCHARGES AB P>Purpose: Autism is a multifactorial disorder that involves impairments in social interactions and communication, as well as restricted and repetitive behaviors. About 30% of individuals with autism develop epilepsy by adulthood. The EL mouse has long been studied as a natural model of multifactorial idiopathic generalized epilepsy with complex partial seizures. Because epilepsy is a comorbid trait of autism, we evaluated the EL mouse for behaviors associated with autism. Methods: We compared the behavior of EL mice to age-matched control DDY mice, a genetically related nonepileptic strain. The mice were compared in the open field and in the light-dark compartment tests to measure activity, exploratory behavior, and restricted and repetitive behaviors. The social transmission of food preference test was employed to evaluate social communication. Home-cage behavior was also evaluated in EL and DDY mice as a measure of repetitive activity. Key Findings: We found that EL mice displayed several behavioral abnormalities characteristic of autism. Impairments in social interaction and restricted patterns of interest were evident in EL mice. Activity, exploratory behavior, and restricted behavior were significantly greater in EL mice than in DDY mice. EL mice exhibited impairment in the social transmission of food preference assay. In addition, a stereotypic myoclonic jumping behavior was observed in EL mice, but was not seen in DDY mice. It is of interest to note that seizure activity within 24 h of testing exacerbated the autistic behavioral abnormalities found in EL mice. Significance: These findings suggest that the EL mouse expresses behavioral abnormalities similar to those seen in persons with autism. We propose that the EL mouse can be utilized as a natural model of autism and epilepsy. C1 [Meidenbauer, Joshua J.; Mantis, John G.; Seyfried, Thomas N.] Boston Coll, Dept Biol, Chestnut Hill, MA 02467 USA. RP Seyfried, TN (reprint author), Boston Coll, Dept Biol, Chestnut Hill, MA 02467 USA. EM thomas.seyfried@bc.edu FU Boston College Research Fund; NIH [NS055195] FX We thank Dr. Xandra Breakefield and her staff (Molecular Neurogenetics Unit, Neuroscience Center, Massachusetts General Hospital, and Neurology Department, Harvard Medical School, Boston, MA, U.S.A.) for kindly supplying the open field apparatus and Motor Monitor software for our use during the study. We also thank Dr. Stephen C. Heinrichs (VA Medical Center, Research 151-Neuropharmacology, Boston, MA, U.S.A.) whose helpful comments improved the scope and focus of the manuscript. This research was supported by the Boston College Research Fund, and NIH grant (NS055195). 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Ring, Howard TI An fMRI investigation of detection of semantic incongruities in autistic spectrum conditions SO EUROPEAN JOURNAL OF NEUROSCIENCE LA English DT Article DE Asperger's syndrome; context; high-functioning autism; semantic incongruity ID HIGH-FUNCTIONING ADULTS; ASPERGERS-SYNDROME; CENTRAL COHERENCE; BRAIN POTENTIALS; ACTIVATION; COMPREHENSION; ADOLESCENTS; DISORDERS; EMPATHY; SPECIALIZATION AB The aim of this study was to investigate differences in the brain's haemodynamic response to semantically incongruent and congruent sentences in adults with an autistic spectrum condition (ASC) and a typically developing Control group. We used functional magnetic resonance imaging to measure regional variations in neural activity during detection of semantic incongruities within written sentences. Whilst the 12 controls showed a pattern of activity extending from posterior cingulate cortices bilaterally and the left occipitotemporal region to the left superior and inferior temporal lobes, right anterior cingulate and right inferior frontal gyrus, the 12 participants with an ASC presented a more spatially restricted activation pattern, including the left inferior frontal gyrus, left anterior cingulate cortex and right middle frontal gyrus. These results are coherent with the hypothesis that impaired integration of multiple neural networks in people with an ASC is related to previous observations that this group have difficulties in the use of context to predict the final word of sentences. C1 [Catarino, Ana; Luke, Lydia; Waldman, Sarah; Ring, Howard] Univ Cambridge, Cambridge Intellectual & Dev Disabil Res Grp, Cambridge, England. [Catarino, Ana; Andrade, Alexandre] Univ Lisbon, Fac Sci, Inst Biophys & Biomed Engn, P-1699 Lisbon, Portugal. [Fletcher, Paul C.] Univ Cambridge, Dept Psychiat, Brain Mapping Unit, Cambridge, England. RP Ring, H (reprint author), Univ Cambridge, Cambridge Intellectual & Dev Disabil Res Grp, Cambridge, England. EM har28@cam.ac.uk RI Ring, Howard/G-6684-2011; Andrade, Alexandre/K-6236-2012 OI Andrade, Alexandre/0000-0002-8107-7338 FU International Autistic Research Organisation; Fundacao para a Ciencia e Tecnologia (Foundation for Science and Technology), Portugal; Bernard Wolfe Health Neuroscience Fund; Wellcome Trust; NIHR FX This study was supported by a grant from the Brian and Gerda McCarthy Autism Research Fund (International Autistic Research Organisation). In addition, A. C. is supported by a grant from the Fundacao para a Ciencia e Tecnologia (Foundation for Science and Technology), Portugal. P.C.F. is supported by the Bernard Wolfe Health Neuroscience Fund and by the Wellcome Trust. During the preparation of this paper, H. R. also received support from the NIHR Collaboration in Leadership in Applied Health Research and Care (CLAHRC) for Cambridgeshire and Peterborough. We are grateful to Ms Jennifer Landt for the help provided in the process of data acquisition, to the staff of the Wolfson Brain Imaging Centre for the help provided in the participants' fMRI scanning, and to the helpful comments of two anonymous referees. We would like to thank all our participants for helping us in this study. 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J. Neurosci. PD FEB PY 2011 VL 33 IS 3 BP 558 EP 567 DI 10.1111/j.1460-9568.2010.07503.x PG 10 WC Neurosciences SC Neurosciences & Neurology GA 713XD UT WOS:000286769800018 PM 21198976 ER PT J AU Marenne, G Rodriguez-Santiago, B Closas, MG Perez-Jurado, L Rothman, N Rico, D Pita, G Pisano, DG Kogevinas, M Silverman, DT Valencia, A Real, FX Chanock, SJ Genin, E Malats, N AF Marenne, Gaelle Rodriguez-Santiago, Benjamin Garcia Closas, Montserrat Perez-Jurado, Luis Rothman, Nathaniel Rico, Daniel Pita, Guillermo Pisano, David G. Kogevinas, Manolis Silverman, Debra T. Valencia, Alfonso Real, Francisco X. Chanock, Stephen J. Genin, Emmanuelle Malats, Nuria TI Assessment of Copy Number Variation Using the Illumina Infinium 1M SNP-Array: A Comparison of Methodological Approaches in the Spanish Bladder Cancer/EPICURO Study SO HUMAN MUTATION LA English DT Article DE copy number variation; genome-wide association study; specificity; sensitivity; reliability; accuracy; CNVpartition; PennCNV; QuantiSNP ID GENOME-WIDE ASSOCIATION; HIDDEN-MARKOV MODEL; STRUCTURAL VARIATION; GENOTYPING DATA; HUMAN-DISEASE; SCHIZOPHRENIA; VARIANTS; RISK; GENES; AUTISM AB High-throughput single nucleotide polymorphism (SNP)-array technologies allow to investigate copy number variants (CNVs) in genome-wide scans and specific calling algorithms have been developed to determine CNV location and copy number. We report the results of a reliability analysis comparing data from 96 pairs of samples processed with CNVpartition, PennCNV, and QuantiSNP for Infinium Illumina Human 1Million probe chip data. 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[Kogevinas, Manolis] Ctr Res Environm Epidemiol CREAL, Barcelona, Spain. RP Malats, N (reprint author), CNIO, Madrid, Spain. EM nmalats@cnio.es RI Pisano, David/N-5817-2014; Genin, Emmanuelle/C-4974-2013; Garcia-Closas, Montserrat /F-3871-2015 OI Pisano, David/0000-0002-4895-4124; Genin, Emmanuelle/0000-0003-4117-2813; Garcia-Closas, Montserrat /0000-0003-1033-2650 FU Fondo de Investigacion Sanitaria, Spain [G03/174, PI061614, FI09/00205]; Asociacion Espanola Contra el Cancer (AECC); Fundacio Marato de TV3; Red Tematica de Investigacion Cooperativa en Cancer (RTICC), Spain; Division of Cancer Epidemiology and Genetics, National Cancer Institute; Egide-PHRC Picasso FX Contract grant sponsor: The Fondo de Investigacion Sanitaria, Spain; Contract grant numbers: G03/174; PI061614; FI09/00205; Contract grant sponsors: Asociacion Espanola Contra el Cancer (AECC), Fundacio Marato de TV3, Red Tematica de Investigacion Cooperativa en Cancer (RTICC), Spain; The Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute; Egide-PHRC Picasso Travel Grant. 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Awadalla, Philip TI A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing SO PLOS GENETICS LA English DT Article ID GENOME-WIDE ASSOCIATION; NATURAL-SELECTION; COMMON DISEASE; MUTATION-RATES; RARE VARIANTS; X-CHROMOSOME; SCHIZOPHRENIA; AUTISM; LINKAGE; FAMILY AB Deep resequencing of functional regions in human genomes is key to identifying potentially causal rare variants for complex disorders. Here, we present the results from a large-sample resequencing (n = 285 patients) study of candidate genes coupled with population genetics and statistical methods to identify rare variants associated with Autism Spectrum Disorder and Schizophrenia. Three genes, MAP1A, GRIN2B, and CACNA1F, were consistently identified by different methods as having significant excess of rare missense mutations in either one or both disease cohorts. In a broader context, we also found that the overall site frequency spectrum of variation in these cases is best explained by population models of both selection and complex demography rather than neutral models or models accounting for complex demography alone. Mutations in the three disease-associated genes explained much of the difference in the overall site frequency spectrum among the cases versus controls. This study demonstrates that genes associated with complex disorders can be mapped using resequencing and analytical methods with sample sizes far smaller than those required by genome-wide association studies. Additionally, our findings support the hypothesis that rare mutations account for a proportion of the phenotypic variance of these complex disorders. C1 [Myers, Rachel A.; Casals, Ferran; Keebler, Jon; Zilversmit, Martine; Hussin, Julie; Quinlan, Jacklyn; Awadalla, Philip] Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada. [Myers, Rachel A.; Keebler, Jon; Rouleau, Guy A.; Awadalla, Philip] Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada. [Myers, Rachel A.; Keebler, Jon; Griffing, Alexander R.; Stone, Eric A.; Awadalla, Philip] N Carolina State Univ, Bioinformat Res Ctr, Raleigh, NC 27695 USA. [Gauthier, Julie; Hamdan, Fadi F.; Piton, Amelie M.; Spiegelman, Dan; Henrion, Edouard; Yang, Yan; Lafreniere, Ronald G.; Rouleau, Guy A.; Awadalla, Philip] Univ Montreal, CHU Montreal, Ctr Excellence Neur, Montreal, PQ, Canada. [Gauthier, Julie; Hamdan, Fadi F.; Piton, Amelie M.; Spiegelman, Dan; Henrion, Edouard; Yang, Yan; Lafreniere, Ronald G.; Rouleau, Guy A.; Awadalla, Philip] Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada. [Boyko, Adam R.; Bustamante, Carlos D.] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA. RP Myers, RA (reprint author), Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada. EM guy.rouleau@umontreal.ca; philip.awadalla@umontreal.ca RI piton, amelie/F-1201-2013 FU Genome Canada; Genome Quebec; Universite de Montreal; Canadian Foundation for Innovation; MDEIE of Quebec; FRSQ FX This work was supported by Genome Canada and Genome Quebec, and it received co-funding from Universite de Montreal for the "Synapse to Disease'' (S2D) project as well as funding from the Canadian Foundation for Innovation to both GAR and PA and co-funding from the MDEIE of Quebec. GAR holds the Canada Research Chair in Genetics of the Nervous System; PA holds the Genome Quebec Award in Population and Medical Genomics and an FRSQ career award. 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 An event-related source localization study of response monitoring and social impairments in autism spectrum disorder SO PSYCHOPHYSIOLOGY LA English DT Article DE Response monitoring; Autism spectrum disorder; ERN; Anterior cingulate cortex ID ANTERIOR CINGULATE CORTEX; ERROR-RELATED-NEGATIVITY; MEDIAL-FRONTAL-CORTEX; HIGH-FUNCTIONING AUTISM; OBSESSIVE-COMPULSIVE DISORDER; POSITRON-EMISSION-TOMOGRAPHY; ASPERGER-SYNDROME; ELECTROCORTICAL RESPONSES; PREFRONTAL CORTEX; CHILDHOOD AUTISM AB A number of studies suggest anterior cingulate cortex (ACC) abnormalities in autism spectrum disorder (ASD), which might underlie response monitoring and social impairments exhibited by children and adolescents with ASD. The goal of the present study was to extend this work by examining error and correct response monitoring using event-related potentials (ERN, Pe, CRN) and LORETA source localization in high functioning adults with ASD and controls. Adults with ASD showed reduced ERN and Pe amplitudes and reduced rostral ACC activation compared with controls. Adults with ASD also showed less differentiation between error and correct ERP components. Social impairments and higher overall autism symptoms were related to reduced rostral ACC activity at the time of the ERN, particularly in adults with ASD. These findings suggest that reduced ACC activity may reflect a putative brain mechanism involved in the origins and maintenance of social impairments and raise the possibility of the presence of stable brain-behavior relation impairment across development in some individuals with ASD. C1 [Jetha, Michelle K.; Mathewson, Karen J.; Schmidt, Louis A.] McMaster Univ, Dept Psychol Neurosci & Behav, Hamilton, ON L8S 4K1, Canada. [Santesso, Diane L.; Segalowitz, Sidney J.] Brock Univ, Dept Psychol, St Catharines, ON L2S 3A1, Canada. [Drmic, Irene E.; Goldberg, Joel O.] York Univ, Dept Psychol, Toronto, ON M3J 2R7, Canada. [Bryson, Susan E.] Dalhousie Univ, Dept Pediat, IWK Hlth Ctr, Halifax, NS, Canada. [Bryson, Susan E.] Dalhousie Univ, Dept Psychol, Halifax, NS, Canada. [Goldberg, Joel O.; Hall, Geoffrey B.] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON, Canada. RP Schmidt, LA (reprint author), McMaster Univ, Dept Psychol Neurosci & Behav, Hamilton, ON L8S 4K1, Canada. EM schmidtl@mcmaster.ca FU National Alliance for Autism Research (NAAR); Natural Sciences and Engineering Research Council of Canada (NSERC); Community Social and Vocational Rehabilitation (CVSR) Foundation; Lawson Foundation; Social Sciences and Humanities Research Council of Canada (SSHRC) FX IED is now at the Autism Research Unit, Hospital for Sick Children, Toronto, Ontario, and MKJ is now at the Department of Psychology, Brock University. This research was supported by a National Alliance for Autism Research (NAAR) Pre-doctoral Fellowship awarded to IED under the direction of SEB, a Natural Sciences and Engineering Research Council of Canada (NSERC) Pre-doctoral Fellowship awarded to MKJ under the direction of LAS, a Community Social and Vocational Rehabilitation (CVSR) Foundation grant awarded to JOG, a Lawson Foundation Post-doctoral Fellowship awarded to KJM under the direction of LAS, and 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 and the clients and staff at the Woodview Manor Independent Living Program. 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10.1016/j.brainres.2006.01.012 NR 83 TC 6 Z9 6 PU WILEY-BLACKWELL PUBLISHING, INC PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0048-5772 J9 PSYCHOPHYSIOLOGY JI Psychophysiology PD FEB PY 2011 VL 48 IS 2 BP 241 EP 251 DI 10.1111/j.1469-8986.2010.01056.x PG 11 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 703TV UT WOS:000286005100010 PM 20557481 ER PT J AU Shute, N AF Shute, Nancy TI Desperate for an Autism Cure (vol 303, pg 80, 2010) SO SCIENTIFIC AMERICAN LA English DT Correction CR SHULE N, 2010, SCI AM, V303, P80 NR 1 TC 0 Z9 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0036-8733 J9 SCI AM JI Sci.Am. PD FEB PY 2011 VL 304 IS 2 BP 10 EP 10 PG 1 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 707VR UT WOS:000286318300010 ER PT J AU Misceo, D Rodningen, OK Baroy, T Sorte, H Mellembakken, JR Stromme, P Fannemel, M Frengen, E AF Misceo, D. Rodningen, O. K. Baroy, T. Sorte, H. Mellembakken, J. R. Stromme, P. Fannemel, M. Frengen, E. TI A Translocation Between Xq21.33 and 22q13.33 Causes an Intragenic SHANK3 Deletion in a Woman With Phelan-McDermid Syndrome and Hypergonadotropic Hypogonadism SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE chromosome translocation; DIAPH2; hypergonadotropic hypogonadism; POF; SHANK3; 22q13 deletion; Xq21 duplication ID PREMATURE OVARIAN FAILURE; AUTISM SPECTRUM DISORDERS; X-CHROMOSOME; CRITICAL REGION; GENE; MUTATIONS; PROTEINS; FAMILY; MOUSE; POF AB Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to play a key role in the expression of the clinical phenotype. SHANK3 mutations have also been reported in autistic patients without a syndromic phenotype. We report on a 20-year-old woman with mental retardation carrying a de novo translocation between chromosome Xq21.33 and 22q13.33, associated with a duplication on Xq21.33 and deletion on 22q13.33. As a child her development was characterized by disturbed social interaction, stereotypic hand movements and ritualistic behavior and she was considered at one time to have autistic features. All these traits match the 22q13 deletion syndrome (Phelan-McDermid syndrome, OMIM 606232), likely due to the deletion overlapping the last two exons of the SHANK3 gene. Our patient harbors the smallest and most distal SHANK3 deletion described to date, yet resulting in the full spectrum of the Phelan-McDermid syndrome. In addition, she has hypergonadotropic hypogonadism with low estrogen level, high FSH level, and irregular menstruation. Intriguingly, chromosome translocations affecting the chromosome band Xq21 can result in premature ovarian failure. (C) 2011 Wiley Periodicals, Inc. C1 [Misceo, D.; Baroy, T.; Frengen, E.] Univ Oslo, Inst Med Genet, Fac Med, N-0315 Oslo, Norway. [Misceo, D.; Rodningen, O. K.; Baroy, T.; Sorte, H.; Fannemel, M.; Frengen, E.] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway. [Mellembakken, J. R.] Oslo Univ Hosp, Sect Reprod Med, Dept Gynecol, Oslo, Norway. [Stromme, P.] Oslo Univ Hosp, Dept Pediat, Oslo, Norway. [Stromme, P.] Univ Oslo, Fac Div Ulleval, Univ Hosp, Fac Med, N-0315 Oslo, Norway. RP Frengen, E (reprint author), Univ Oslo, Inst Med Genet, Fac Med, POB 1036, N-0315 Oslo, Norway. EM eirik.frengen@medisin.uio.no FU University of Oslo; Ulleval University Hospital Research Fund (VIRUUS); Sigurd K. Thoresens Foundation; Legatet til Henrik Homans Minde FX We thank the family for their collaboration in this project. We are indebted to Dr. Per Aage Wolff for the MR scan of the pelvic region, and to Dr. Ebbe Gronvold and Dr. Kristin Mellingen for the gynecological examinations. We are grateful to Dr. Gregor D. Gilfillan for language revision. This work was funded by project support from the University of Oslo, "Ulleval University Hospital Research Fund (VIRUUS)", and "Sigurd K. Thoresens Foundation." E.F. was supported by "Legatet til Henrik Homans Minde." 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J. Med. Genet. A PD FEB PY 2011 VL 155A IS 2 BP 403 EP 408 DI 10.1002/ajmg.a.33798 PG 6 WC Genetics & Heredity SC Genetics & Heredity GA 718VE UT WOS:000287153700024 PM 21271662 ER PT J AU Okuno, H Nagai, T Sakai, S Mohri, I Yamamoto, T Yoshizaki, A Kato, K Tachibana, M Iwasaka, H Taniike, M AF Okuno, Hiroko Nagai, Toshisaburo Sakai, Saeko Mohri, Ikuko Yamamoto, Tomoka Yoshizaki, Arika Kato, Kumi Tachibana, Masaya Iwasaka, Hidemi Taniike, Masako TI Effectiveness of modified parent training for mothers of children with Pervasive Developmental Disorder on parental confidence and children's behavior SO BRAIN & DEVELOPMENT LA English DT Article DE Parent training; Pervasive Developmental Disorder; Confidence degree questionnaire; CBCL ID AUTISM SPECTRUM; PREVALENCE AB Aim: This study used parent training (PT), with modifications to smaller groups and shorter schedules (PTSS), for mothers of children with Pervasive Developmental Disorder (PDD). The usefulness of PTSS was evaluated according to the parent's confidence and child's behavior by questionnaire. Method: PTSS was used on 14 mothers of 14 children with PDD of preschool to elementary school age, and performed in small groups of 3-4 mothers each. One PTSS course comprised six consecutive sessions and was completed within three months. The sessions consisted mainly of training for parenting skills, understanding the children's inappropriate behaviors, and helping the children adapt to school. The effectiveness of PTSS was assessed by changes in the scores for confidence degree questionnaire for families (CDQ) and the child behavior checklist (CBCL), determined before and after each course. Results: The average CDQ scores increased for 17 of 18 items after completion of the PTSS course in all 14 mothers. The change was statistically significant in five items. Increases in average CDQ scores were also seen in 10 of 18 items assessed in fathers, although none were significant. The CBCL total T-score decreased in 10 of 14 children (71.4%). The remaining four children showed an increased CBCL total T-score. Conclusion: These results indicated that PTSS is useful based on changes in the parents' CDQ scores and children's CBCL scores. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Okuno, Hiroko] Osaka Univ, Grad Sch Med, Div Childrens & Womens Hlth, Course Hlth Sci, Suita, Osaka 5650871, Japan. [Okuno, Hiroko; Nagai, Toshisaburo; Sakai, Saeko; Mohri, Ikuko; Yamamoto, Tomoka; Yoshizaki, Arika; Kato, Kumi; Tachibana, Masaya; Taniike, Masako] Osaka Univ, Grad Sch Med, Mol Res Ctr Childrens Mental Dev, Suita, Osaka 5650871, Japan. [Iwasaka, Hidemi] Nara Univ Educ, Special Support Educ Res Ctr, Nara, Japan. 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PD FEB PY 2011 VL 33 IS 2 BP 152 EP 160 DI 10.1016/j.braindev.2010.03.007 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA 723XE UT WOS:000287539900009 PM 20385459 ER PT J AU Taurines, R Dudley, E Grassl, J Warnke, A Gerlach, M Coogan, AN Thome, J AF Taurines, Regina Dudley, Edward Grassl, Julia Warnke, Andreas Gerlach, Manfred Coogan, Andrew N. Thome, Johannes TI Proteomic research in psychiatry SO JOURNAL OF PSYCHOPHARMACOLOGY LA English DT Review DE Alzheimer's disease; anxiety disorders; autism; drug addiction; mood disorders; protein profiling; proteomics; psychiatry; schizophrenia ID ALZHEIMERS-DISEASE BRAIN; LASER-DESORPTION/IONIZATION-TIME; LIQUID CHROMATOGRAPHY/MASS SPECTROMETRY; OXIDATIVELY MODIFIED PROTEINS; MILD COGNITIVE IMPAIRMENT; FLIGHT-MASS-SPECTROMETRY; SELDI-TOF-MS; DIHYDROPYRIMIDINASE-RELATED PROTEIN-2; DIFFERENCE GEL-ELECTROPHORESIS; CEREBROSPINAL-FLUID BIOMARKERS AB Psychiatric disorders such as Alzheimer's disease, schizophrenia and mood disorders are severe and disabling conditions of largely unknown origin and poorly understood pathophysiology. An accurate diagnosis and treatment of these disorders is often complicated by their aetiological and clinical heterogeneity. In recent years proteomic technologies based on mass spectrometry have been increasingly used, especially in the search for diagnostic and prognostic biomarkers in neuropsychiatric disorders. Proteomics enable an automated high-throughput protein determination revealing expression levels, post-translational modifications and complex protein-interaction networks. In contrast to other methods such as molecular genetics, proteomics provide the opportunity to determine modifications at the protein level thereby possibly being more closely related to pathophysiological processes underlying the clinical phenomenology of specific psychiatric conditions. In this article we review the theoretical background of proteomics and its most commonly utilized techniques. Furthermore the current impact of proteomic research on diverse psychiatric diseases, such as Alzheimer's disease, schizophrenia, mood and anxiety disorders, drug abuse and autism, is discussed. 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Psychopharmacol. PD FEB PY 2011 VL 25 IS 2 BP 151 EP 196 DI 10.1177/0269881109106931 PG 46 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 715IV UT WOS:000286878400001 PM 20142298 ER PT J AU Villafuerte, S AF Villafuerte, Sandra TI Suggestive evidence on the genetic link between mitochondria dysfunction and autism SO ACTA PSYCHIATRICA SCANDINAVICA LA English DT Editorial Material C1 Univ Michigan, Mol & Behav Neurosci Inst, Ann Arbor, MI 48109 USA. RP Villafuerte, S (reprint author), Univ Michigan, Mol & Behav Neurosci Inst, Ann Arbor, MI 48109 USA. EM svillafu@umich.edu CR Hass RH, 2010, DEV DISABIL RES REV, V16, P144 Marui T, 2011, ACTA PSYCHIAT SCAND, V123, P118, DOI 10.1111/j.1600-0447.2010.01600.x NR 2 TC 2 Z9 2 PU WILEY-BLACKWELL PUBLISHING, INC PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0001-690X J9 ACTA PSYCHIAT SCAND JI Acta Psychiatr. Scand. PD FEB PY 2011 VL 123 IS 2 BP 95 EP 95 DI 10.1111/j.1600-0447.2010.01654.x PG 1 WC Psychiatry SC Psychiatry GA 702CY UT WOS:000285873400002 PM 21198452 ER PT J AU Wilkins, JF AF Wilkins, Jon F. TI GENOMIC IMPRINTING AND CONFLICT-INDUCED DECANALIZATION SO EVOLUTION LA English DT Article DE Autism; canalization; genetic conflict; gene expression; schizophrenia ID PRADER-WILLI-SYNDROME; GENE-EXPRESSION; DEVELOPMENTAL STABILITY; ACQUIRED CHARACTERS; MATERNAL-BEHAVIOR; BRAIN-DEVELOPMENT; SOCIAL BRAIN; EVOLUTION; CANALIZATION; AUTISM AB Genomic imprinting is the phenomenon in which the expression pattern of an allele depends on its parental origin. When maternally expressed and paternally expressed imprinted loci affect the same trait, the result is an arms race, with each locus under selection to increase its level of expression. 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RP Wilkins, JF (reprint author), Santa Fe Inst, Santa Fe, NM 87501 USA. 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R. Fivaz, M. Kraus, M. S. Keefe, R. S. E. TI Hierarchical temporal processing deficit model of reality distortion and psychoses SO MOLECULAR PSYCHIATRY LA English DT Article DE hierarchical; model; schizophrenia; genes; molecular; symptom ID DEVELOPING CEREBRAL-CORTEX; AUTISM SPECTRUM DISORDERS; DENDRITIC SPINE DENSITY; LONG-TERM POTENTIATION; CENTRAL-NERVOUS-SYSTEM; SUBVENTRICULAR ZONE; PREFRONTAL CORTEX; RADIAL GLIA; NEURONAL MIGRATION; PROGENITOR CELLS AB We posit in this article that hierarchical temporal processing deficit is the underlying basis of reality distortion and psychoses. Schizophrenia is a prototypical reality distortion disorder in which the patient manifests with auditory hallucinations, delusions, disorganized speech and thinking, cognitive impairment, avolition and social and occupational dysfunction. Reality distortion can be present in many other disorders including bipolar disorder, major depression and even dementia. 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Psychiatr. PD FEB PY 2011 VL 16 IS 2 BP 129 EP 144 DI 10.1038/mp.2010.63 PG 16 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA 711HZ UT WOS:000286581400004 PM 21263440 ER PT J AU Marui, T Funatogawa, I Koishi, S Yamamoto, K Matsumoto, H Hashimoto, O Jinde, S Nishida, H Sugiyama, T Kasai, K Watanabe, K Kano, Y Kato, N AF Marui, T. Funatogawa, I. Koishi, S. Yamamoto, K. Matsumoto, H. Hashimoto, O. Jinde, S. Nishida, H. Sugiyama, T. Kasai, K. Watanabe, K. Kano, Y. Kato, N. TI The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism SO ACTA PSYCHIATRICA SCANDINAVICA LA English DT Article DE association study; autism; haplotype block; NDUFA5 gene ID COMPLEX DISEASES; NO ASSOCIATION; RARE VARIANTS; DISORDER; HAPLOTYPES; ETIOLOGY; GENOME; TWIN AB Objective: Autism appears to have a strong genetic component. The product of the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene is included in the mitochondrial electron transport chain. Method: We performed a case-control study of 235 patients with autism and 214 controls and examined three single-nucleotide polymorphisms (SNPs) within this gene in a Japanese population. We then conducted a transmission disequilibrium test (TDT) analysis in 148 autistic trios. Results: In the case-control study, two SNPs (rs12666974 and rs3779262) showed a significant association with autism (P = 0.00064 and 0.00046 respectively). Furthermore, a haplotype containing these two SNPs showed a significant association (P-global = 0.0013, individual haplotype A-A: P = 0.010). In TDT analysis, the global and A-A haplotype P-values also indicated significant associations. Minor allele and genotype frequencies were decreased in the autistic subjects. Conclusion: We found significant association between the NDFA5 gene and autism. C1 [Marui, T.; Jinde, S.; Kasai, K.; Kato, N.] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo 1130033, Japan. [Marui, T.] Univ Tokyo, Grad Sch Frontier Sci, Dept Med Genome Sci, Tokyo 1130033, Japan. [Funatogawa, I.] Teikyo Univ, Sch Med, Dept Hyg & Publ Hlth, Tokyo 173, Japan. [Koishi, S.; Sugiyama, T.] Aichi Childrens Hlth & Med Ctr, Obu, Japan. [Yamamoto, K.] Kitasato Univ, Sch Med, Dept Psychiat, Sagamihara, Kanagawa 228, Japan. [Matsumoto, H.] Tokai Univ, Sch Med, Dept Psychiat, Isehara, Kanagawa 25911, Japan. [Hashimoto, O.] Aino Univ, Fac Nursing & Rehabil, Dept Occupat Therapy, Ibaraki, Japan. [Nishida, H.] Asunaro Hosp Child & Adolescent Psychiat, Tsu, Mie, Japan. [Watanabe, K.; Kano, Y.] Univ Tokyo, Sch Med, Dept Child Psychiat, Tokyo 1130033, Japan. RP Marui, T (reprint author), Univ Tokyo, Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1130033, Japan. 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Scand. PD FEB PY 2011 VL 123 IS 2 BP 118 EP 124 DI 10.1111/j.1600-0447.2010.01600.x PG 7 WC Psychiatry SC Psychiatry GA 702CY UT WOS:000285873400006 PM 20825370 ER PT J AU Stornetta, RL Zhu, JJ AF Stornetta, Ruth L. Zhu, J. Julius TI Ras and Rap Signaling in Synaptic Plasticity and Mental Disorders SO NEUROSCIENTIST LA English DT Review DE AMPA receptors; MAPK; neuromodulator; NMDA receptors; plasticity; Ras; Rap1; Rap2; sensory experience; subcellular compartment; synaptic transmission; trafficking ID LONG-TERM POTENTIATION; AMPA-RECEPTOR TRAFFICKING; FRAGILE-X-SYNDROME; RILEY-RUVALCABA-SYNDROME; CAUSE NOONAN-SYNDROME; FMR1 KNOCKOUT MICE; DOMAIN-CONTAINING PROTEINS; AUTISM SPECTRUM DISORDERS; FACIO-CUTANEOUS SYNDROME; COFFIN-LOWRY-SYNDROME AB The Ras family GTPases (Ras, Rap1, and Rap2) and their downstream mitogen-activated protein kinases (ERK, JNK, and p38MAPK) and PI3K signaling cascades control various physiological processes. In neuronal cells, recent studies have shown that these parallel cascades signal distinct forms of AMPA-sensitive glutamate receptor trafficking during experience-dependent synaptic plasticity and adaptive behavior. Interestingly, both hypo- and hyperactivation of Ras/Rap signaling impair the capacity of synaptic plasticity, underscoring the importance of a "happy-medium" dynamic regulation of the signaling. Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease,Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior. Thus, the recent advances in understanding of neuronal Ras/Rap signaling provide a useful guide for developing novel treatments for mental diseases. C1 [Stornetta, Ruth L.; Zhu, J. Julius] Univ Virginia, Dept Pharmacol, Sch Med, Charlottesville, VA 22908 USA. RP Zhu, JJ (reprint author), Univ Virginia, Dept Pharmacol, Sch Med, 1300 Jefferson Pk Ave, Charlottesville, VA 22908 USA. 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TI Increased Dentate Gyrus Excitability in Neuroligin-2-Deficient Mice in Vivo SO CEREBRAL CORTEX LA English DT Article DE GABA; GABA(A) receptor clustering; network activity; perisomatic inhibition; computational modeling ID LONG-TERM POTENTIATION; INHIBITORY SYNAPSE FORMATION; COLLYBISTIN-DEFICIENT MICE; GABA(A) RECEPTORS; GRANULE CELLS; NEUROLIGIN 2; NETWORK EXCITABILITY; GABAERGIC SYNAPSES; AUTISM; MODEL AB The postsynaptic adhesion protein neuroligin-2 (NL2) is selectively localized at inhibitory synapses. Here, we studied network activity in the dentate gyrus of NL2-deficient mice following perforant path (PP) stimulation in vivo. We found a strong increase in granule cell (GC) excitability. Furthermore, paired-pulse inhibition (PPI) of the population spike, a measure for gamma-aminobutyric acid (GABA)ergic network inhibition, was severely impaired and associated with reduced GABA(A) receptor (GABA(A)R)-mediated miniature inhibitory postsynaptic currents recorded from NL2-deficient GCs. In agreement with these functional data, the number of gephyrin and GABA(A)R clusters was significantly reduced in the absence of NL2, indicating a loss of synaptic GABA(A)Rs from the somata of GCs. Computer simulations of the dentate network showed that impairment of perisomatic inhibition is able to explain the electrophysiological changes observed in the dentate circuitry of NL2 knockout animals. Collectively, our data demonstrate for the first time that deletion of NL2 increases excitability of cortical neurons in the hippocampus of intact animals, most likely through impaired GABA(A)R clustering. C1 [Jedlicka, Peter; Vlachos, Andreas; Winkels, Raphael; Deller, Thomas; Schwarzacher, Stephan W.] Goethe Univ Frankfurt, Ctr Neurosci, Inst Clin Neuroanat, D-60590 Frankfurt, Germany. [Hoon, Mrinalini; Poulopoulos, Alexandros; Brose, Nils; Varoqueaux, Frederique] Max Planck Inst Expt Med, Dept Mol Neurobiol, D-37075 Gottingen, Germany. [Hoon, Mrinalini; Poulopoulos, Alexandros; Brose, Nils; Varoqueaux, Frederique] Max Planck Inst Expt Med, Ctr Mol Physiol Brain, D-37075 Gottingen, Germany. [Papadopoulos, Theofilos; Betz, Heinrich] Max Planck Inst Brain Res, Dept Neurochem, D-60528 Frankfurt, Germany. RP Jedlicka, P (reprint author), Goethe Univ Frankfurt, Ctr Neurosci, Inst Clin Neuroanat, Theodor Stern Kai 7, D-60590 Frankfurt, Germany. EM jedlicka@em.uni-frankfurt.de RI Jedlicka, Peter/B-6094-2012; Poulopoulos, Alexandros/C-3659-2008 OI Jedlicka, Peter/0000-0001-6571-5742; Poulopoulos, Alexandros/0000-0002-5318-7388 FU Deutsche Forschungsgemeinschaft [JE 528/1-1]; Max-Planck-Gesellschaft; Fonds der Chemischen Industrie; Autism Now foundation; European Community [NEUREST MEST-CT-2004-504193]; Center for the Molecular Physiology of the Brain FX Deutsche Forschungsgemeinschaft (JE 528/1-1 to P. J.); Max-Planck-Gesellschaft to H. B.; Fonds der Chemischen Industrie to H. B.; Cure Autism Now foundation to F. V.; European Community (NEUREST MEST-CT-2004-504193 to M. H.); Center for the Molecular Physiology of the Brain to N.B. and F.V. 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Currently, Multiplex Ligation-dependent Probe Amplification (MLPA) is widely used to detect these small aberrations in a routine fashion. Although cost-effective, the throughput is low and the degree of multiplexing is limited to maximally 40-50 probes. Therefore, we developed an array-based MLPA method, with probes identified by unique tag sequences, allowing the simultaneous analysis of 180 probes in a single experiment thereby covering all known mental retardation loci with at least two probes. We screened 120 patients with idiopathic mental retardation. In this group we detected 6 aberrations giving a detection rate of 5%, consistent with similar studies. In addition we tested 293 patients with mental retardation who were negative for fragile X syndrome and commercially available subtelomeric MLPA. We found seven causative rearrangements in this group (detection rate of 2.4%) thereby illustrating the value of including probes for interstitial microdeletion syndromes and additional probes in the telomeric regions in targeted screening sets for mental retardation. Array-based MLPA may thus be a good candidate to develop probe sets that rapidly detect copy number changes of disease associated loci in the human genome. This method may become a valuable tool in a routine diagnostic setting as it is a fast, user-friendly and relatively low-cost technique providing straightforward results requiring only 125 ng of genomic DNA. (C) 2011 Wiley-Liss, Inc. C1 [Rooms, Liesbeth; Vandeweyer, Geert; Reyniers, Edwin; Van der Aa, Nathalie; Kooy, R. Frank] Univ Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium. [Rooms, Liesbeth; Vandeweyer, Geert; Reyniers, Edwin; Van der Aa, Nathalie; Kooy, R. Frank] Univ Antwerp Hosp, Antwerp, Belgium. 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J. Med. Genet. A PD FEB PY 2011 VL 155A IS 2 BP 343 EP 348 DI 10.1002/ajmg.a.33810 PG 6 WC Genetics & Heredity SC Genetics & Heredity GA 718VE UT WOS:000287153700013 PM 21271651 ER PT J AU Sanchez-Valle, A Pierpont, ME Potocki, L AF Sanchez-Valle, Amarilis Pierpont, Mary Ella Potocki, Lorraine TI The Severe End of the Spectrum: Hypoplastic Left Heart in Potocki-Lupski Syndrome SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE chromosome 17p duplication; RAI1; failure to thrive; autism; left ventricular outflow track; hypoplastic left heart syndrome ID SMITH-MAGENIS-SYNDROME; OUTFLOW TRACT OBSTRUCTION; AORTIC-VALVE STENOSIS; HOMOLOGOUS RECOMBINATION; DUPLICATION 17P11.2; CLINICAL PHENOTYPE; DISEASE; MUTATIONS; COARCTATION; MECHANISM AB Potocki-Lupski syndrome (PTLS) is a recently described microduplication syndrome associated with duplication 17p11.2, including the RAI1 gene. Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum disorder, anxiety, and inattention. Cardiovascular anomalies were not recognized as a feature of duplication 17p11.2 until 2007 when noted in over 50% of a clinically characterized cohort. We report a patient with hypoplastic left heart syndrome whose diagnosis of PTLS was delayed until a genetic evaluation at age 4 years because of severe expressive language impairment. We suggest that array comparative genomic hybridization be performed in infants with severe congenital heart defects. (C) 2011 Wiley-Liss, Inc. C1 [Sanchez-Valle, Amarilis; Potocki, Lorraine] Texas Childrens Hosp, Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Pierpont, Mary Ella] Childrens Hosp & Clin Minnesota, Dept Med Genet, Minneapolis, MN USA. [Pierpont, Mary Ella] Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA. RP Potocki, L (reprint author), Texas Childrens Hosp, Baylor Coll Med, Dept Mol & Human Genet, 6701 Fannin,Mail Code CC1560, Houston, TX 77030 USA. EM lpotocki@bcm.edu FU National Institutes of Health General Clinical Research Centers [M01RR00188] FX Grant sponsor: National Institutes of Health General Clinical Research Centers; Grant number: M01RR00188. 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A PD FEB PY 2011 VL 155A IS 2 BP 363 EP 366 DI 10.1002/ajmg.a.33844 PG 4 WC Genetics & Heredity SC Genetics & Heredity GA 718VE UT WOS:000287153700017 PM 21271655 ER PT J AU Behnecke, A Hinderhofer, K Bartsch, O Numann, A Ipach, ML Damatova, N Haaf, T Dufke, A Riess, O Moog, U AF Behnecke, Anne Hinderhofer, Katrin Bartsch, Oliver Nuemann, Astrid Ipach, Marie-Luise Damatova, Natalja Haaf, Thomas Dufke, Andreas Riess, Olaf Moog, Ute TI Intragenic Deletions of IL1RAPL1: Report of Two Cases and Review of the Literature SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE X-linked mental retardation (XLMR); nonsyndromic XLMR (MRX); syndromic XLMR (MRXS); IL1RAPL1; intragenic deletion ID LINKED MENTAL-RETARDATION; ACCESSORY PROTEIN-LIKE; X-CHROMOSOME; GENE; FAMILY; AUTISM; MUTATION; MICRODELETION; DEFICIENCY; INVERSION AB IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) located at Xp21.3-22.1 has repeatedly been shown to be deleted in patients with a contiguous gene syndrome also affecting neighboring genes, in particular DMD (dystrophin), DAX-1 (NR0B1, nuclear receptor subfamily 0, group B, member 1), and GK (glycerol kinase). In contrast, intragenic deletions of IL1RAPL1 or other mutations or cytogenetic aberrations affecting IL1RAPL1 have only rarely been identified. Up to date, they have mostly been associated with nonspecific mental retardation (MRX). We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5). Deletions were identified by microarray-based chromosome analysis and confirmed by multiplex PCR and FISH, respectively. These data, along with recent functional studies indicating its role in neuronal development, provide further evidence for the relevance of IL1RAPL1 in the pathogenesis of X-linked MR and add knowledge to the phenotypic spectrum of IL1RAPL1 mutations. (C) 2010 Wiley-Liss, Inc. C1 [Behnecke, Anne; Hinderhofer, Katrin; Nuemann, Astrid; Moog, Ute] Univ Heidelberg, Inst Human Genet, D-69120 Heidelberg, Germany. [Bartsch, Oliver; Damatova, Natalja; Haaf, Thomas] Johannes Gutenberg Univ Mainz, Inst Human Genet, Mainz, Germany. [Nuemann, Astrid] Charite Humboldt Univ, Dept Neurol, Berlin, Germany. [Ipach, Marie-Luise] Social Paediat Ctr Trier, Trier, Germany. [Damatova, Natalja; Haaf, Thomas] Univ Wurzburg, Inst Human Genet, Mainz, Germany. [Dufke, Andreas; Riess, Olaf] Inst Human Genet, Tubingen, Germany. RP Behnecke, A (reprint author), Univ Heidelberg, Inst Human Genet, Neuenheimer Feld 366, D-69120 Heidelberg, Germany. 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J. Med. Genet. A PD FEB PY 2011 VL 155A IS 2 BP 372 EP 379 DI 10.1002/ajmg.a.33656 PG 8 WC Genetics & Heredity SC Genetics & Heredity GA 718VE UT WOS:000287153700019 PM 21271657 ER PT J AU Jeong, JW Sundaram, SK Kumar, A Chugani, DC Chugani, HT AF Jeong, J. -W. Sundaram, S. K. Kumar, A. Chugani, D. C. Chugani, H. T. TI Aberrant Diffusion and Geometric Properties in the Left Arcuate Fasciculus of Developmentally Delayed Children: A Diffusion Tensor Imaging Study SO AMERICAN JOURNAL OF NEURORADIOLOGY LA English DT Article ID MAGNETIC-RESONANCE IMAGES; AUTISM SPECTRUM DISORDER; WHITE-MATTER; SPATIAL NORMALIZATION; CORPUS-CALLOSUM; BRAIN; LANGUAGE; TRACTS; REGISTRATION; MORPHOMETRY AB BACKGROUND AND PURPOSE: One of the neurologic substrates of poor language in children with DD is the abnormal development of perisylvian language networks. We sought to determine whether this manifests as aberrant regional changes in diffusivity or geometry of the left AF. MATERIALS AND METHODS: We performed DTI studies in 16 young (age, 55.4 +/- 18.95 months) patients with DD and 11 age- and sex-matched TD children (age, 60.09 +/- 21.27 months). All children were right-handed. To detect the malformation of left AF structure in native or standard space, we proposed new methodology consisting of 2 complementary approaches, principal fiber orientation quantification in color-coded anisotropic maps and tract-based morphometry analysis. RESULTS: Patients with DD did not show the typical pattern of age-related maturity of the AP and ML pathways passing through the left AF (R(2) of the AP pathway: DD versus TO = 0.002 versus 0.4542; R(2) of the ML pathway: DD versus TO = 0.002 versus 0.4154). In addition, the patients with DD showed significantly reduced FA in the temporal portion of the AF (mean FA of DD versus TD = 0.37 +/- 0.11 versus 0.48 +/- 0.06, P < .001), and the AF showed higher curvatures in the parietotemporal junction, resulting in sharper bends to the Wernicke area (mean curvature of DD versus TD = 0.12 +/- 0.03 versus 0.06 +/- 0.02, P < .001). CONCLUSIONS: The proposed methods successfully revealed regional abnormalities in the axonal integrity of the left AF in the patients with DD. These abnormalities support the notion that the perisylvian language network is malformed in children with DD. C1 [Sundaram, S. K.] Childrens Hosp Michigan, Translat Imaging Ctr, Detroit, MI 48201 USA. [Jeong, J. -W.; Sundaram, S. K.; Kumar, A.; Chugani, D. C.; Chugani, H. T.] Wayne State Univ, Sch Med, Carman & Ann Adams Dept Pediat, Detroit, MI USA. [Jeong, J. -W.; Sundaram, S. K.; Kumar, A.; Chugani, H. T.] Wayne State Univ, Sch Med, Carman & Ann Adams Dept Neurol, Detroit, MI USA. [Kumar, A.; Chugani, D. C.; Chugani, H. T.] Wayne State Univ, Sch Med, Carman & Ann Adams Dept Radiol, Detroit, MI USA. RP Sundaram, SK (reprint author), Childrens Hosp Michigan, Translat Imaging Ctr, 3901 Beaubien Blvd, Detroit, MI 48201 USA. EM ssundaram@pet.wayne.edu RI Sundaram, Senthil/B-3905-2013 OI Sundaram, Senthil/0000-0002-0382-0536 FU ARRA/NICHD [1R01HD059817-01A1] FX This work was supported by the 2-phase ARRA/NICHD grant, 1R01HD059817-01A1. 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Using a structured approach, all paediatricians have the potential to make a significant positive difference and should seek every opportunity to do so, even if seeing the child for an entirely different reason. Key messages of this article include: (1) each child is unique and requires careful, individual, clinical assessment and thought before any investigations are undertaken; (2) there is no single list of appropriate tests to be done for all children with disordered development; (3) the clinical judgement of the experienced clinician (expert triage) is more helpful than 'guidelines' in deciding which investigations to do; (4) clinical networking with colleagues in paediatric neurodisability, neurology, clinical genetics, metabolic paediatrics, and so on, is essential to achieve the highest possible yield from investigations and to reduce the number, discomfort and expense of inappropriate investigations; (5) the more effort and thought that goes into formulating differential diagnoses, the more appropriate the investigations are likely to be and the higher the likely diagnostic hit rate. 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Dis. Childhood-Educ. Pract. Ed. PD FEB PY 2011 VL 96 IS 1 BP 9 EP 20 DI 10.1136/adc.2009.182436 PG 12 WC Pediatrics SC Pediatrics GA 719DJ UT WOS:000287179600003 PM 20926624 ER PT J AU Shattuck, PT Wagner, M Narendorf, S Sterzing, P Hensley, M AF Shattuck, Paul T. Wagner, Mary Narendorf, Sarah Sterzing, Paul Hensley, Melissa TI Post-High School Service Use Among Young Adults With an Autism Spectrum Disorder SO ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE LA English DT Article ID HEALTH-CARE NEEDS; SPECIAL-EDUCATION; CHILDREN; PREVALENCE; TRANSITION; FAMILIES; STATES AB Objectives: To produce nationally representative population estimates of rates of service use among young adults with an autism spectrum disorder during their first few years after leaving high school and to examine correlates of use. Design: Nationally representative telephone survey from April 2007 to February 2008. Setting: United States. Participants: Parents and guardians of young adults with autism spectrum disorders aged 19 to 23 years. Main Exposure: Autism spectrum disorder. Main Outcome Measures: Use of the following services in the prior 2 years or since leaving high school: mental health services, medical evaluation and assessment, speech therapy, and case management. Results: Rates of service use ranged from 9.1% for speech therapy to 41.9% for case management; 39.1% of youths with an autism spectrum disorder represented by the survey received no services. The adjusted odds of no services were higher among African American participants and those with low incomes. The adjusted odds of case management were lower among youths with high functional skills and those with low incomes. Conclusions: Rates of service disengagement are high after exiting high school. Disparities by race and socioeconomic status indicate a need for targeted outreach and services. C1 [Shattuck, Paul T.; Narendorf, Sarah; Sterzing, Paul; Hensley, Melissa] Washington Univ, George Warren Brown Sch Social Work, St Louis, MO 63130 USA. [Wagner, Mary] SRI Int, Menlo Pk, CA USA. RP Shattuck, PT (reprint author), Washington Univ, George Warren Brown Sch Social Work, Campus Box 1196,1 Brookings Dr, St Louis, MO 63130 USA. EM pshattuck@wustl.edu FU National Institute of Mental Health [R01 MH086489-01]; Organization for Autism Research; Shattuck FX This research was supported by grant R01 MH086489-01 from the National Institute of Mental Health and by the Organization for Autism Research.Obtained funding: Shattuck. 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TI Diffusion tensor imaging in autism spectrum disorders: preliminary evidence of abnormal neural connectivity SO AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY LA English DT Article DE autism; connectivity; diffusion tensor imaging; social brain; white matter ID WHITE-MATTER; ASPERGER-SYNDROME; HUMAN BRAIN; MAGNETIC-RESONANCE; CORPUS-CALLOSUM; INDIVIDUALS; MRI; NEUROBIOLOGY; BEHAVIOR; FUSIFORM AB Objective: This study indirectly tested the hypothesis that individuals with autism spectrum disorders (ASDs) have impaired neural connections between the amygdala, fusiform face area, and superior temporal sulcus, key processing nodes of the 'social brain'. This would be evidenced by abnormalities in the major fibre tracts known to connect these structures, including the inferior longitudinal fasciculus and inferior fronto-occipital fasciculus. Method: Magnetic resonance diffusion tensor imaging was performed on 20 right-handed males (ASD = 10, controls = 10) with a mean age 13.5 +/- 4.0 years. Subjects were group-matched according to age, full-scale IQ, handedness, and ethnicity. Fractional anisotropy was used to assess structural integrity of major fibre tracts. Voxel-wise comparison of white matter fractional anisotropy was conducted between groups using ANCOVA adjusting for age, full-scale IQ, and brain volume. Volumes of interest were identified using predetermined probability and cluster thresholds. Follow-up tractography was performed to confirm the anatomic location of all volumes of interest which were observed primarily in peri-callosal regions and the temporal lobes. Results: The regions of lower fractional anisotropy, as confirmed by tractography, involved the inferior longitudinal fasciculus/inferior fronto-occipital fasciculus, superior longitudinal fasciculus, and corpus callosum/cingulum. Notably, some volumes of interest were adjacent to the fusiform face area, bilaterally, corresponding to involvement of the inferior longitudinal fasciculus. The largest effect sizes were noted for volumes of interest in the right anterior radiation of the corpus callosum/cingulum and right fusiform face area (inferior longitudinal fasciculus). Conclusions: This study provides preliminary evidence of impaired neural connectivity in the corpus callosum/cingulum and temporal lobes involving the inferior longitudinal fasciculus/inferior fronto-occipital fasciculus and superior longitudinal fasciculus in ASDs. These findings provide preliminary support for aberrant neural connectivity between the amygdala, fusiform face area, and superior temporal sulcus-temporal lobe structures critical for normal social perception and cognition. C1 [Jou, Roger J.; Volkmar, Fred R.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06519 USA. [Jou, Roger J.] Yale Univ, Sch Med, Invest Med Program, New Haven, CT 06519 USA. [Jackowski, Andrea P.] Univ Fed Sao Paulo, Lab Interdiciplinar Neurociencias Clin, Sao Paulo, Brazil. [Papademetris, Xenophon; Staib, Lawrence H.] Yale Univ, Sch Med, Div Bioimaging Sci, Dept Diagnost Radiol, New Haven, CT 06519 USA. [Rajeevan, Nallakkandi] Yale Univ, Sch Med, Ctr Med Informat, New Haven, CT 06519 USA. RP Jou, RJ (reprint author), Yale Univ, Sch Med, Ctr Child Study, 230 S Frontage Rd, New Haven, CT 06519 USA. EM roger.jou@yale.edu RI Jackowski, Andrea/D-8616-2012 OI Jackowski, Andrea/0000-0001-8842-5406 FU National Institute of Child Health and Human Development (NICHD) [U19-HD35482]; National Institute of Neurological Disorders and Stroke (NINDS) [R01-NS035193]; General Clinical Research Centers (GCRC) [MO1-RR00125]; American Psychiatric Institute for Research and Education/Eli Lilly and Company; ANA/Pfizer FX We are thankful for the grant support we have received for this project from the National Institute of Child Health and Human Development (NICHD) Collaborative Programs of Excellence in Autism (CPEA) (U19-HD35482), the National Institute of Neurological Disorders and Stroke (NINDS) (R01-NS035193), and the General Clinical Research Centers (GCRC) (MO1-RR00125). This work was also supported, in part, by the American Psychiatric Institute for Research and Education/Eli Lilly and Company Psychiatric Research Fellowship and the ANA/Pfizer Fellowships in Clinical Practice from Pfizer's Medical and Academic Partnership program. The authors alone are responsible for the content and writing of the paper. 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PD FEB PY 2011 VL 4 IS 1 SI SI BP 5 EP 16 DI 10.1002/aur.175 PG 12 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 729JP UT WOS:000287945900002 PM 21328568 ER PT J AU Yang, M Perry, K Weber, MD Katz, AM Crawley, JN AF Yang, Mu Perry, Kayla Weber, Michael D. Katz, Adam M. Crawley, Jacqueline N. TI Social Peers Rescue Autism-Relevant Sociability Deficits in Adolescent Mice SO AUTISM RESEARCH LA English DT Article DE autism; BTBR inbred strain; mouse model; peer enrichment; social enrichment; behavioral intervention ID FRAGILE-X-SYNDROME; INTENSIVE BEHAVIORAL TREATMENT; INTEGRATED PLAY GROUPS; BTBR-T+TF/J MICE; SPECTRUM DISORDERS; REPETITIVE BEHAVIOR; INBRED STRAINS; EARLY-CHILDHOOD; TASKS RELEVANT; MOUSE MODELS AB Behavioral therapies are currently the most effective interventions for treating the diagnostic symptoms of autism. We employed a mouse model of autism to evaluate components of behavioral interventions that improve sociability in mice. BTBR T+tf/J (BTBR) is an inbred mouse strain that exhibits prominent behavioral phenotypes with face validity to all three diagnostic symptom categories of autism, including robust and well-replicated deficits in social approach and reciprocal social interactions. To investigate the role of peer interactions in the development of sociability, BTBR juvenile mice were reared in the same home cage with juvenile mice of a highly social inbred strain, C57BL/6J (B6). Subject mice were tested as young adults for sociability and repetitive behaviors. B6 controls reared with B6 showed their strain-typical high sociability. BTBR controls reared with BTBR showed their strain-typical lack of sociability. In contrast, BTBR reared with B6 as juveniles showed significant sociability as young adults. A 20-day intervention was as effective as a 40-day intervention for improving social approach behavior. High levels of repetitive self-grooming in BTBR were not rescued by peer-rearing with B6, indicating specificity of the intervention to the social domain. These results from a robust mouse model of autism support the interpretation that social enrichment with juvenile peers is a beneficial intervention for improving adult outcome in the social domain. This novel paradigm may prove useful for discovering factors that are essential for effective behavioral treatments, and biological mechanisms underlying effective behavioral interventions. C1 [Yang, Mu] NIMH, Lab Behav Neurosci, Intramural Res Program, NIH, Bethesda, MD 20892 USA. RP Yang, M (reprint author), NIMH, Lab Behav Neurosci, Intramural Res Program, NIH, Bldg 35,Room 1C-909,Mail Code 3730, Bethesda, MD 20892 USA. EM yangmu@mail.nih.gov FU National Institute of Mental Health FX Grant sponsor: National Institute of Mental Health Intramural Research Program. 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PD FEB PY 2011 VL 4 IS 1 SI SI BP 17 EP 27 DI 10.1002/aur.163 PG 11 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 729JP UT WOS:000287945900003 PM 20928844 ER PT J AU Sakurai, T Dorr, NP Takahashi, N McInnes, LA Elder, GA Buxbaum, JD AF Sakurai, Takeshi Dorr, Nathan P. Takahashi, Nagahide McInnes, L. Alison Elder, Gregory A. Buxbaum, Joseph D. TI Haploinsufficiency of Gtf2i, a Gene Deleted in Williams Syndrome, Leads to Increases in Social Interactions SO AUTISM RESEARCH LA English DT Article DE social behavior; intellectual disability; autism; mouse model ID BEUREN-SYNDROME; MICE; AUTISM AB Identifying genes involved in social behavior is important for autism research. Williams-Beuren syndrome (WBS) is a developmental syndrome with unique neurocognitive features, including low IQ deficits in visuospatial and visual-motor abilities, hypersensitivity to sounds, hypersociability, and increased general anxiety. The syndrome is caused by a recurrent hemizygous deletion of the 7q11.23 region, containing about 28 genes. One of genes in the region, GTF2I, has been implicated in the hypersociability and visuospatial deficits of WBS based on genotype-phenotype correlation studies of patients with atypical deletions. In order to clarify the involvement of GTF2I in neurocognitive function, especially social behavior, we have developed and characterized Gtf2i-deficient mice. We found that homozygous deletion of Gtf2i causes lethality during embryonic development with neural tube closure defects and exencephaly, consistent with other reports. Gtf2i heterozygous animals show no gross changes in brain structure or development. Furthermore, heterozygous animals show no alterations in learning and memory, including spatial memory as assessed by the Morris water maze, but show alterations in the recognition of novel objects. Interestingly, they show increased social interaction with unfamiliar mice and do not show typical social habituation processes, reminiscent of the hypersociability observed in WBS patients. The mice do not appear to show increased anxiety, supporting a specific effect of Gtf2i on defined domains of the WBS phenotype. These data indicate that Gtf2i is involved in several aspects of embryonic development and the development of social neurocircuitry and that GTF2I haploinsufficiency could be a contributor to the hypersociability in WBS patients. C1 [Sakurai, Takeshi; Dorr, Nathan P.; Takahashi, Nagahide; McInnes, L. Alison; Elder, Gregory A.; Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA. [Sakurai, Takeshi; McInnes, L. Alison; Buxbaum, Joseph D.] Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA. [Sakurai, Takeshi] Mt Sinai Sch Med, Dept Pharmacol & Syst Therapeut, New York, NY 10029 USA. [Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Neurosci, New York, NY 10029 USA. [Elder, Gregory A.] Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA. [Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY 10029 USA. [Elder, Gregory A.] Vet Affairs Med Ctr, James J Peters Dept, Neurol Serv, Bronx, NY USA. RP Buxbaum, JD (reprint author), Mt Sinai Sch Med, Dept Psychiat, 1 Gustave L Levy Pl,Box 1668, New York, NY 10029 USA. EM joseph.buxbaum@mssm.edu FU Seaver Foundation; Office of Mount Sinai School of Medicine FX Grant sponsor: The Seaver Foundation.This research was supported by the Seaver Foundation. T.S. and L.A.M. are current and prior Seaver Fellows, respectively. The Mount Sinai Rat and Mouse Phenotyping Shared Research Facility was supported in part by the Dean's Office of Mount Sinai School of Medicine. The authors thank Dr. Ananda Roy for the generous gift of an antibody. 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In addition to cognitive impairment, patients may exhibit hyperactivity, attention deficits, social difficulties and anxiety, and autistic-like behaviors. The degree to which patients display these behaviors varies considerably and is influenced by family history, suggesting that genetic modifiers play a role in the expression of behaviors in FXS. Several studies have examined behavior in a mouse model of FXS in which the Fmr1 gene has been ablated. Most of those studies were done in Fmr1 knockout mice on a pure C57BL/6 or FVB strain background. To gain a better understanding of the effects of genetic background on behaviors resulting from the loss of Fmr1 gene expression, we generated F1 hybrid lines from female Fmr1 heterozygous mice on a pure C57BL/6J background bred with male Fmr1 wild-type (WT) mice of various background strains (A/J, DBA/2J, FVB/NJ, 129S1/SvImJ and CD-1). Male Fmr1 knockout and WT littermates from each line were examined in an extensive behavioral test battery. 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PD FEB PY 2011 VL 4 IS 1 SI SI BP 40 EP 56 DI 10.1002/aur.168 PG 17 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 729JP UT WOS:000287945900005 PM 21268289 ER PT J AU Carter, MD Shah, CR Muller, CL Crawley, JN Carneiro, AMD Veenstra-VanderWeele, J AF Carter, Michelle D. Shah, Charisma R. Muller, Christopher L. Crawley, Jacqueline N. Carneiro, Ana M. D. Veenstra-VanderWeele, Jeremy TI Absence of Preference for Social Novelty and Increased Grooming in Integrin beta 3 Knockout Mice: Initial Studies and Future Directions SO AUTISM RESEARCH LA English DT Article DE autism; genetic; integrin; cell adhesion; serotonin; social memory; grooming; obsessive-compulsive disorder ID WHOLE-BLOOD SEROTONIN; AUTISM SPECTRUM DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; RECEPTOR GENE OXTR; COPY NUMBER VARIATION; MOUSE MODEL; 1ST-DEGREE RELATIVES; MENTAL-RETARDATION; ULTRASONIC VOCALIZATIONS; BEHAVIORAL PHENOTYPES AB Elevated whole blood serotonin 5-HT, or hyperserotonemia, is a common biomarker in autism spectrum disorder (ASD). The integrin beta 3 receptor subunit gene (ITGB3) is a quantitative trait locus for whole blood 5-HT levels. Recent work shows that integrin beta 3 interacts with the serotonin transporter (SERT) in both platelets and in the midbrain. Furthermore, multiple studies have now reported gene gene interaction between the integrin beta 3 and SERT genes in association with ASD. Given the lack of previous data on the impact of integrin beta 3 on brain or behavioral phenotypes, we sought to compare mice with decreased or absent expression of the integrin beta 3 receptor subunit (Itgb3+/- and -/-) with wildtype littermate controls in behavioral tasks relevant to ASD. These mice did not show deficits in activity level in the open field or anxiety-like behavior on the elevated plus maze, two potential confounds in the evaluation of mouse social behavior. In the three-chamber social test, mice lacking integrin beta 3 were shown to have normal sociability but did not show a preference for social novelty. Importantly, the absence of integrin beta 3 did not impair olfaction or the ability to recall familiar social odors. Additionally, mice lacking integrin beta 3 showed increased grooming behavior in novel environments. These preliminary studies reveal altered social and repetitive behavior in these mice, which suggests that the integrin beta 3 subunit may be involved in brain systems relevant to ASD. Further work is needed to fully characterize these behavioral changes and the underlying brain mechanisms. C1 [Carter, Michelle D.; Shah, Charisma R.; Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Dept Psychiat, Nashville, TN USA. [Muller, Christopher L.; Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Ctr Mol Neurosci, Nashville, TN USA. [Crawley, Jacqueline N.] NIMH, Lab Behav Neurosci, Bethesda, MD 20892 USA. [Carneiro, Ana M. D.; Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Dept Pharmacol, Nashville, TN USA. [Carneiro, Ana M. D.; Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Kennedy Ctr Res Human Dev, Nashville, TN USA. [Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Dept Pediat, Nashville, TN USA. RP Veenstra-VanderWeele, J (reprint author), 465 21st Ave S,7158 MRB 3, Nashville, TN 37232 USA. EM j.vvw@vanderbilt.edu FU Seaside Therapeutics; Roche Pharmaceuticals; Novartis; NIH [K08-MH081066, T32-MH065215, HD15052]; NIH (Vanderbilt Kennedy Center) [T32-MH065215, HD15052, MH081066] FX Dr. Veenstra-VanderWeele receives research support from Seaside Therapeutics, Roche Pharmaceuticals, and Novartis, for clinical trials unrelated to the current research.Grant sponsor: NIH; Grant numbers: K08-MH081066; T32-MH065215; HD15052.We are especially grateful to the families who participated in the original genetic studies. We also thank Randy Blakely for helpful advice and generous mentorship. This work was supported, in part, by NIH grants MH081066 (JV), T32-MH065215 (JV), and HD15052 (Vanderbilt Kennedy Center). 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We previously identified two ASD risk genes encoding the receptor tyrosine kinase MET and the urokinase plasminogen activator receptor (PLAUR), which is thought to modulate availability of the MET ligand. We also reported a role for Met signaling in cortical interneuron development in vitro and a reduction of these neurons in uPAR (mouse ortholog of PLAUR) null mice, suggesting that disruption of either gene impacts cortical development similarly. Here, we modify this conclusion, reporting that interneuron numbers are unchanged in the neocortex of Met(fx/fx)/ Dlx5/6(cre) mice, in which Met is ablated from cells arising from the ventral telencephalon (VTel). Consistent with this, Met transcript is not detected in the VTel during interneuron genesis and migration; furthermore, during the postnatal period of interneuron maturation, Met is co-expressed in glutamatergic projection neurons, but not interneurons. Low levels of Met protein are expressed in the VTel at E12.5 and E14.5, likely reflecting the arrival of Met-containing corticofugal axons. Met expression, however, is induced in E12.5 VTel cells after 2 days in vitro, perhaps underlying discrepancies between observations in vitro and in Met(fx/fx)/ Dlx5/6(cre) mice. We suggest that, in vivo, Met impacts the development of cortical projection neurons, whereas uPAR influences interneuron maturation. An altered balance between excitation and inhibition has been postulated as a biological mechanism for ASD; this imbalance could arise from different risk genes differentially affecting either or both elements. C1 [Eagleson, Kathie L.; Campbell, Daniel B.; Thompson, Barbara L.; Bergman, Mica Y.; Levitt, Pat] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Los Angeles, CA 90033 USA. [Eagleson, Kathie L.; Thompson, Barbara L.; Levitt, Pat] Univ So Calif, Keck Sch Med, Dept Cell & Neurobiol, Los Angeles, CA 90033 USA. [Campbell, Daniel B.] Univ So Calif, Keck Sch Med, Dept Psychiat & Behav Sci, Los Angeles, CA 90033 USA. [Bergman, Mica Y.] Vanderbilt Univ, Med Ctr, Grad Program Neurosci, Nashville, TN USA. [Bergman, Mica Y.] Vanderbilt Univ, Med Ctr, Med Scientist Training Program, Nashville, TN USA. RP Eagleson, KL (reprint author), Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, 1501 San Pablo St,Rm 231, Los Angeles, CA 90033 USA. EM keagleso@usc.edu FU National Institutes of Health/National Institute of Mental Health [R01 MH067842, F30 MH083474] FX Grant sponsor: National Institutes of Health/National Institute of Mental Health; Grant numbers: R01 MH067842; F30 MH083474. 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PD FEB PY 2011 VL 4 IS 1 SI SI BP 68 EP 83 DI 10.1002/aur.172 PG 16 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 729JP UT WOS:000287945900007 PM 21328570 ER PT J AU Bartlett, SM Rapp, JT Krueger, TK Henrickson, ML AF Bartlett, Sara M. Rapp, John T. Krueger, Tyler K. Henrickson, Marissa L. TI THE USE OF RESPONSE COST TO TREAT SPITTING BY A CHILD WITH AUTISM SO BEHAVIORAL INTERVENTIONS LA English DT Article ID AUTOMATIC REINFORCEMENT AB We evaluated the extent to which noncontingent access to one or multiple items and the contingent removal of a specific item decreased a young boy's spitting. Results indicated that the boy's spitting did not decrease when he was given noncontingent access to multiple, alternative stimuli or to a toy radio. By contrast, when the toy radio was removed contingent on spitting, the rate of the boy's spitting decreased to zero or near-zero levels. Similar results were produced in the boy's special education classroom. Follow-up sessions conducted 2 and 4 months later indicated that the reduction in the boy's spitting persisted across time. Copyright (C) 2010 John Wiley & Sons, Ltd. C1 [Bartlett, Sara M.; Rapp, John T.; Krueger, Tyler K.; Henrickson, Marissa L.] St Cloud State Univ, St Cloud, MN 56301 USA. RP Rapp, JT (reprint author), St Cloud State Univ, Educ Bldg,A 261,720 4th Ave S, St Cloud, MN 56301 USA. EM jtrapp@stcloudstate.edu CR Falcomata TS, 2004, J APPL BEHAV ANAL, V37, P83, DOI 10.1901/jaba.2004.37-83 Iwata Brian A, 2008, Behav Anal Pract, V1, P3 Lanovaz M. J., 2010, EUROPEAN J BEHAV ANA, V11, P17 Mudford OC, 2009, J APPL BEHAV ANAL, V42, P165, DOI 10.1901/jaba.2009.42-165 Piazza CC, 2000, J APPL BEHAV ANAL, V33, P13, DOI 10.1901/jaba.2000.33-13 Rapp JT, 2009, BEHAV INTERVENT, V24, P85, DOI 10.1002/bin.276 RAPP JT, 2007, J APPL BEHAV ANAL, V40, P75 NR 7 TC 1 Z9 1 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1072-0847 J9 BEHAV INTERVENT JI Behav. Intervent. PD FEB PY 2011 VL 26 IS 1 BP 76 EP 83 DI 10.1002/bin.322 PG 8 WC Psychology, Clinical SC Psychology GA 708XS UT WOS:000286398200006 ER PT J AU Sakkalis, V AF Sakkalis, Vangelis TI Applied strategies towards FEG/MEG biomarker identification in clinical and cognitive research SO BIOMARKERS IN MEDICINE LA English DT Review DE alcoholism; Alzheimer's disease; autism; brain network analysis; EEG biomarkers; graph analysis; human brain connectivity measures; magnetoencephalography biomarkers; schizophrenia; spectral measures ID MUTUAL INFORMATION ANALYSIS; GRAPH-THEORETICAL ANALYSIS; BRAIN FUNCTIONAL NETWORKS; SMALL-WORLD NETWORKS; ALZHEIMERS-DISEASE; MISMATCH NEGATIVITY; WAVELET ANALYSIS; UNITED-STATES; EEG COHERENCE; SCHIZOPHRENIA AB As the underlying causes of several neuronal disorders and neurodegenerative diseases still remain, to some extent, unknown and no accurate diagnostic tests are available, the identification of prognostic and predictive neurophysiological biomarkers has attracted tremendous interest. The continuous advancement of neuroscience methods applied in EEG and magnetoencephalography has been successful in capturing brain processes and identifying persistent cognitive deficits. In this article, the most promising approaches of this rapidly evolving field, along with some indicative clinical applications in major neuropathophysiological disorders, are reviewed. Such strategies for biomarker identification will lead the way to future clinical applications even if, currently, EEG biomarkers are in a premature state. C1 Fdn Res & Technol, Inst Comp Sci, Iraklion 71110, Crete, Greece. RP Sakkalis, V (reprint author), Fdn Res & Technol, Inst Comp Sci, Iraklion, Crete, Greece. 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We review recent work from neuroimaging and other sources, and argue that there is considerable convergent evidence suggesting that connectivity is disrupted in ASD. We point to evidence both of local over-connectivity and of long-distance under-connectivity, and describe some non-uniformities in this picture, most notably that disruptions appear more severe in later-developing cortical regions. We conclude by discussing a number of extant questions. Firstly, we consider whether aberrant connectivity should be seen as part of the primary pathogenesis of autism, or whether disrupted connectivity in ASD emerges over time. Secondly, we consider how the patterns of disrupted connectivity found in ASD might relate to those being found in a range of other disorders. (C) 2010 Elsevier Inc. All rights reserved. C1 Birkbeck Coll, Sch Psychol, Ctr Brain & Cognit Dev, London WC1E 7HX, England. RP Wass, S (reprint author), Birkbeck Coll, Sch Psychol, Ctr Brain & Cognit Dev, Malet St, London WC1E 7HX, England. EM samwass@gmail.com FU Bloomsbury Colleges FX Many thanks to Mark Johnson for reading numerous drafts, to Michael Thomas, Annette Karmiloff-Smith, Fred Dick, Paul Taylor, Victoria Knowland and John Lewis for many stimulating discussions, and to the Bloomsbury Colleges for funding. 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PD FEB PY 2011 VL 78 IS 1 BP 36 EP 36 PG 1 WC Rehabilitation SC Rehabilitation GA 755TZ UT WOS:000289961400007 ER PT J AU Ndoro, R AF Ndoro, Rumbidzai TI The Assessment of Autism Spectrum Disorders SO CHILD AND ADOLESCENT MENTAL HEALTH LA English DT Book Review C1 [Ndoro, Rumbidzai] Fleming Nuffield Hosp, Newcastle Upon Tyne, Tyne & Wear, England. RP Ndoro, R (reprint author), Fleming Nuffield Hosp, Newcastle Upon Tyne, Tyne & Wear, England. CR GOLDSTEIN S, 2008, ASSESSMENT AUTISM SP NR 1 TC 0 Z9 0 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1475-357X J9 CHILD ADOL MENT H-UK JI Child Adolesc. Ment. Health PD FEB PY 2011 VL 16 IS 1 BP 64 EP 64 PG 1 WC Psychology, Clinical; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 727RH UT WOS:000287818400012 ER PT J AU Sowden, H Perkins, M Clegg, J AF Sowden, Hannah Perkins, Mick Clegg, Judy TI Context and communication strategies in naturalistic behavioural intervention: A framework for understanding how practitioners facilitate communication in children with ASD SO CHILD LANGUAGE TEACHING & THERAPY LA English DT Article DE Autistic Spectrum Disorder; directiveness; interaction; naturalistic behaviour based intervention; practitioner; structure ID AUTISM SPECTRUM DISORDERS; YOUNG-CHILDREN; LANGUAGE INTERVENTION AB There are many different approaches to intervention aimed at facilitating the social and communicative abilities of children with Autistic Spectrum Disorders (ASD). Behavioural interventions seek to improve the social and communicative abilities of children with ASD through interaction. Recently there has been a move towards naturalistic behaviour-based interventions (NBI). Despite this trend there has been relatively little research into the mechanics of this approach. This study investigated an intervention programme aimed at pre-school children with ASD to identify, first, the different contexts of interaction during the intervention and, second,the communication strategies developed by the practitioners. Eight children were followed through the intervention programme, resulting in 21 hours of video data. Ten contexts of interaction were identified, including play, directed tasks and transitions. Practitioners combined structure and directiveness in their communication strategies. Six levels of directiveness were identified, ranging from observing to prompting. A distinction was made between emergent and imposed structures. The interaction strategies, within this dataset, which resulted in prolonged and varied discourse were based on dynamic emergent structures and in the mid range of the directiveness continuum. The findings are discussed with reference to how strategies may be identified and implemented by practitioners within NBI. C1 [Sowden, Hannah] Newcastle Univ, Sch English Literature Language & Linguist, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [Perkins, Mick] Univ Sheffield, Dept Human Commun Sci, Sheffield S10 2TN, S Yorkshire, England. RP Sowden, H (reprint author), Newcastle Univ, Sch English Literature Language & Linguist, Percy Bldg, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. EM hannah.sowden@newcastle.ac.uk CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Charlop-Christy M. 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Teach. Ther. PD FEB PY 2011 VL 27 IS 1 BP 21 EP 38 DI 10.1177/0265659010369990 PG 18 WC Education, Special; Linguistics; Language & Linguistics SC Education & Educational Research; Linguistics GA 720DM UT WOS:000287260400002 ER PT J AU Calhoun, M Longworth, M Chester, VL AF Calhoun, Matthew Longworth, Margaret Chester, Victoria L. TI Gait patterns in children with autism SO CLINICAL BIOMECHANICS LA English DT Article DE Gait; Autism; Principal Components Analysis; Waveforms ID POSTURAL CONTROL; DISORDER; PROGRESSION; LOCOMOTION AB Background: Very few studies have examined the gait patterns of children with autism. A greater awareness of movement deviations could be beneficial for treatment planning. The purpose of this study was to compare kinematic and kinetic gait patterns in children with autism versus age-matched controls. Methods: Twelve children with autism and twenty-two age-matched controls participated in the study. An eight camera motion capture system and four force plates were used to compute joint angles and joint kinetics during walking. Parametric analyses and principal component analyses were applied to kinematic and kinetic waveform variables from the autism (n = 12) and control (n = 22) groups. Group differences in parameterization values and principal component scores were tested using one-way ANOVAs and Kruskal-Wallis tests. Findings: Significant differences between the autism and control group were found for cadence, and peak hip and ankle kinematics and kinetics. Significant differences were found for three of the principal component scores: sagittal ankle moment principal component one, sagittal ankle angle principal component one, and sagittal hip moment principal component two. Results suggest that children with autism demonstrate reduced plantarflexor moments and increased dorsiflexion angles, which may be associated with hypotonia. Decreased hip extensor moments were found for the autism group compared to the control group, however, the clinical significance of this result is unclear. Interpretation: This study has identified several gait variables that were significantly different between autism and control group walkers. This is the first study to provide a comprehensive analysis of gait patterns in children with autism. (C) 2010 Elsevier Ltd. All rights reserved. C1 [Calhoun, Matthew; Longworth, Margaret; Chester, Victoria L.] Univ New Brunswick, Fac Kinesiol, Fredericton, NB E3B 5A3, Canada. RP Chester, VL (reprint author), Univ New Brunswick, Fac Kinesiol, POB 4400, Fredericton, NB E3B 5A3, Canada. EM vchester@unb.ca FU Natural Sciences and Engineering Research Council (NSERC); New Brunswick Innovation Foundation FX The authors wish to gratefully acknowledge the Natural Sciences and Engineering Research Council (NSERC) and the New Brunswick Innovation Foundation. 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Opin. Neurobiol. PD FEB PY 2011 VL 21 IS 1 BP 197 EP 203 DI 10.1016/j.conb.2010.08.009 PG 7 WC Neurosciences SC Neurosciences & Neurology GA 741PN UT WOS:000288876100026 PM 20832285 ER PT J AU Emck, C Bosscher, RJ Van Wieringen, PCW Doreleijers, T Beek, PJ AF Emck, Claudia Bosscher, Ruud J. van Wieringen, Piet C. W. Doreleijers, Theo Beek, Peter J. TI Gross motor performance and physical fitness in children with psychiatric disorders SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID DEVELOPMENTAL COORDINATION DISORDER; DIFFICULTIES; DEFICIT; AUTISM AB Aim Gross motor performance appears to be impaired in children with psychiatric disorders but little is known about which skill domains are affected in each disorder, nor about possible accompanying deficits in physical fitness. The present study has sought to provide information about these issues in children with emotional, behavioural, and pervasive developmental disorders (PDD). Method One hundred children receiving psychiatric care (81 males, 19 females, mean age 9y 11mo, SD 1y 8mo) completed both the Test of Gross Motor Development, measuring locomotion and object control, and the Motor Performance test, measuring neuromotor and aerobic fitness. The emotional disorders, behavioural disorders (BD), and PDD subgroups consisted of 17, 44 and 39 children respectively. Results The mean gross motor performance scores of the BD and PDD group were significantly (p < 0.05) lower than the score of the emotional disorders group, but even the latter score was significantly lower (p < 0.05) than the population norm score. Physical fitness was poor in all subgroups. The subdomains locomotion and object control were unusually highly correlated in the PDD group (r=0.68). Moreover, only in the PDD group were the locomotion scores significantly correlated with neuromotor fitness (r=0.47, p=0.02). Interpretation The specific combinations of impairments in gross motor skills and physical fitness in children with psychiatric disorders indicate the importance of the assessment of these domains in order to provide interventions tailored to the specific profile of each individual child. C1 [Emck, Claudia; Bosscher, Ruud J.; van Wieringen, Piet C. W.; Doreleijers, Theo] Vrije Univ Amsterdam, Fac Human Movement Sci, Res Inst MOVE, NL-1081 BT Amsterdam, Netherlands. [Beek, Peter J.] Vrije Univ Amsterdam Med Ctr, Dept Child & Adolescent Psychiat, Amsterdam, Netherlands. RP Emck, C (reprint author), Vrije Univ Amsterdam, Fac Human Movement Sci, Res Inst MOVE, Van der Boechorststr 9, NL-1081 BT Amsterdam, Netherlands. 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The following was compared from the first to second assessment: diagnostic classification stability, correlations between scores and the impact of time between the first and second assessment. Results: Significant correlations were found for toddlers as young as 18 months of age. In addition, even with up to a year between assessment intervals, symptoms of ASD were relatively stable prior to 3 years of age. Conclusions: Implications of the current findings are discussed. C1 [Worley, Julie A.; Matson, Johnny L.; Mahan, Sara; Kozlowski, Alison M.; Neal, Daniene] Louisiana State Univ, Baton Rouge, LA 70816 USA. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. 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Philos. Theory PD FEB PY 2011 VL 43 IS 1 SI SI BP 31 EP 36 DI 10.1111/j.1469-5812.2010.00704.x PG 6 WC Education & Educational Research SC Education & Educational Research GA 784KJ UT WOS:000292155900005 ER PT J AU Ghanizadeh, A AF Ghanizadeh, Ahmad TI Ghrelin as a promising therapeutic target for co-occurring autism and epilepsy SO EPILEPSY & BEHAVIOR LA English DT Letter ID NEUROPEPTIDE-Y; SPECTRUM DISORDERS; VALPROIC ACID; SEIZURES; LEPTIN; RECEPTORS; CHILDREN; BRAIN C1 [Ghanizadeh, Ahmad] Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Hafez Hosp, Shiraz, Iran. [Ghanizadeh, Ahmad] Shiraz Univ Med Sci, Dept Psychiat, Hafez Hosp, Shiraz, Iran. RP Ghanizadeh, A (reprint author), Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Hafez Hosp, Shiraz, Iran. 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PD FEB PY 2011 VL 20 IS 2 BP 420 EP 421 DI 10.1016/j.yebeh.2010.12.009 PG 2 WC Behavioral Sciences; Clinical Neurology; Psychiatry SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry GA 727WN UT WOS:000287833700050 PM 21220213 ER PT J AU Ghanizadeh, A AF Ghanizadeh, Ahmad TI May lovastatin target both autism and epilepsy? A novel hypothesized treatment SO EPILEPSY & BEHAVIOR LA English DT Letter ID SPECTRUM DISORDERS; CHILDREN; BRAIN C1 Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Dept Psychiat, Hafez Hosp, Shiraz, Iran. RP Ghanizadeh, A (reprint author), Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Dept Psychiat, Hafez Hosp, Shiraz, Iran. 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PD FEB PY 2011 VL 20 IS 2 BP 422 EP 422 DI 10.1016/j.yebeh.2010.12.027 PG 1 WC Behavioral Sciences; Clinical Neurology; Psychiatry SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry GA 727WN UT WOS:000287833700051 PM 21269887 ER PT J AU Coghill, D Seth, S AF Coghill, David Seth, Sarah TI Do the diagnostic criteria for ADHD need to change? Comments on the preliminary proposals of the DSM-5 ADHD and Disruptive Behavior Disorders Committee SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Review DE ADHD; Classification; DSM-5; Diagnosis; Diagnostic systems ID CHILDREN; ONSET; AGE AB The purpose of this commentary is to discuss the recent proposals for revision of the diagnostic criteria made by the DSM-5 ADHD and Disruptive Behavior Disorders Committee. The major concerns with the current diagnostic criteria for ADHD and hence the main suggestions for change focused on the general structure and organization of subtypes, the number, content and distribution of criteria, the age of onset criteria, the ascertainment of cross-situationality and the inclusion and exclusion criteria. Suggestions for change in these areas have been made in order that these changes can be tested in field trials before being finalised. Whilst several of the proposed revisions are relatively uncontentious e.g., the elaborated symptoms criteria, the identification of ADHD as a disorder of both behavioural and cognitive functioning, the situational and developmental dependence of symptoms, the permission to diagnose ADHD in the presence of an autism spectrum disorder, clarification of the relationship between ADHD and irritable mood and the importance of getting information from teachers and other third parties. Several of the other proposed changed are more contentious and will require extensive field testing to assess their impact on validity, reliability and clinical usefulness. These include changes to the way in which individuals with inattention but no hyperactivity/impulsivity are classified, the addition of four new impulsivity symptoms, a reduction in the number of symptoms required to meet criteria for older adolescents and adults and the raising of the age of onset to 12 years of age. C1 [Coghill, David] Univ Dundee, Ninewells Hosp & Med Sch, Div Med Sci, Ctr Neurosci Maternal & Child Hlth Sci 2, Dundee DD1 9SY, Scotland. [Seth, Sarah] NHS Tayside, Ctr Child Hlth, Tayside Child Serv, Dundee DD3 6HH, Scotland. [Seth, Sarah] NHS Tayside, Ctr Child Hlth, Adolescent Mental Hlth Serv, Dundee DD3 6HH, Scotland. RP Coghill, D (reprint author), Univ Dundee, Ninewells Hosp & Med Sch, Div Med Sci, Ctr Neurosci Maternal & Child Hlth Sci 2, Dundee DD1 9SY, Scotland. 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PD FEB PY 2011 VL 20 IS 2 BP 75 EP 81 DI 10.1007/s00787-010-0142-4 PG 7 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 721AT UT WOS:000287324500005 PM 21107871 ER PT J AU Schaaf, CP Goin-Kochel, RP Nowell, KP Hunter, JV Aleck, KA Cox, S Patel, A Bacino, CA Shinawi, M AF Schaaf, Christian P. Goin-Kochel, Robin P. Nowell, Kerri P. Hunter, Jill V. Aleck, Kirk A. Cox, Sarah Patel, Ankita Bacino, Carlos A. Shinawi, Marwan TI Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article DE 16p11.2; chromosomal rearrangements; deletion; duplication; developmental delay; syringomyelia ID MICRODELETION; AUTISM AB 16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal brain findings were frequently observed in patients with these rearrangements. We identified and performed a detailed microarray, phenotypic, and radiological characterization of three new patients with 16p11.2 rearrangements: two deletion patients and one patient with the reciprocal duplication. All patients have a heterozygous loss (deletion) or gain (duplication) corresponding to chromosomal coordinates (chr16: 29 528 190-30 107 184) with a minimal size of 579 kb. The deletion patients had language delay and learning disabilities and one met criteria for pervasive developmental disorder not otherwise specified. The duplication patient received a diagnosis of autism and had academic deficits and behavioral problems. The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. The syringomyelia in one patient with deletion was associated with Chiari malformation. Our findings highlight the broad spectrum of clinical and neurological manifestations in patients with 16p11.2 rearrangements. Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients. European Journal of Human Genetics (2011) 19, 152-156; doi:10.1038/ejhg.2010.168; published online 20 October 2010 C1 [Shinawi, Marwan] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA. [Schaaf, Christian P.; Goin-Kochel, Robin P.; Nowell, Kerri P.; Patel, Ankita; Bacino, Carlos A.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Hunter, Jill V.] Baylor Coll Med, Dept Radiol, Houston, TX 77030 USA. [Aleck, Kirk A.; Cox, Sarah] St Josephs Hosp, CHC Phoenix Genet Program, Dept Pediat, Phoenix, AZ USA. RP Shinawi, M (reprint author), Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, 1 Childrens Pl,Northwest Tower 9132,Campus Box 81, St Louis, MO 63110 USA. 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PD FEB PY 2011 VL 19 IS 2 BP 152 EP 156 DI 10.1038/ejhg.2010.168 PG 5 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 705YK UT WOS:000286176500008 PM 20959866 ER PT J AU Comensoli, PA AF Comensoli, Peter A. TI Disabled Church - Disabled Society: The Implications of Autism for Philosophy, Theology and Politics SO EXPOSITORY TIMES LA English DT Book Review C1 [Comensoli, Peter A.] Univ Edinburgh, Sch Divin, Edinburgh EH8 9YL, Midlothian, Scotland. RP Comensoli, PA (reprint author), Univ Edinburgh, Sch Divin, Edinburgh EH8 9YL, Midlothian, Scotland. CR GILLIBRAND J, 2010, DISABLED CHURCH DISA NR 1 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 0014-5246 J9 EXPOSITORY TIMES JI Exposit. Times PD FEB PY 2011 VL 122 IS 5 BP 249 EP 249 DI 10.1177/00145246111220050704 PG 1 WC Religion SC Religion GA 956HI UT WOS:000305080300016 ER PT J AU Lahvis, GP Alleva, E Scattoni, ML AF Lahvis, G. P. Alleva, E. Scattoni, M. L. TI Translating mouse vocalizations: prosody and frequency modulation1 SO GENES BRAIN AND BEHAVIOR LA English DT Review DE Addiction; affective disorders; animal communication; autism; bioacoustic communication; empathy; mood; schizophrenia; ultrasonic vocalizations ID CONDITIONED PLACE PREFERENCE; MICE MUS-MUSCULUS; HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE; ULTRASONIC VOCALIZATIONS; SOCIAL-INTERACTION; EMOTIONAL PROSODY; ASPERGER-SYNDROME; ADULT MALE; COMMUNICATION SOUNDS AB Mental illness can include impaired abilities to express emotions or respond to the emotions of others. Speech provides a mechanism for expressing emotions, by both what words are spoken and by the melody or intonation of speech (prosody). Through the perception of variations in prosody, an individual can detect changes in another's emotional state. Prosodic features of mouse ultrasonic vocalizations (USVs), indicated by changes in frequency and amplitude, also convey information. Dams retrieve pups that emit separation calls, females approach males emitting solicitous calls, and mice can become fearful of a cue associated with the vocalizations of a distressed conspecific. Because acoustic features of mouse USVs respond to drugs and genetic manipulations that influence reward circuits, USV analysis can be employed to examine how genes influence social motivation, affect regulation, and communication. The purpose of this review is to discuss how genetic and developmental factors influence aspects of the mouse vocal repertoire and how mice respond to the vocalizations of their conspecifics. To generate falsifiable hypotheses about the emotional content of particular calls, this review addresses USV analysis within the framework of affective neuroscience (e.g. measures of motivated behavior such as conditioned place preference tests, brain activity and systemic physiology). Suggested future studies include employment of an expanded array of physiological and statistical approaches to identify the salient acoustic features of mouse vocalizations. We are particularly interested in rearing environments that incorporate sufficient spatial and temporal complexity to familiarize developing mice with a broader array of affective states. C1 [Lahvis, G. P.] OHSU, Dept Behav Neurosci, Portland, OR 97239 USA. [Alleva, E.] Ist Super Sanita, Behav Neurosci Sect, Dept Cell Biol & Neurosci, I-00161 Rome, Italy. [Scattoni, M. L.] Ist Super Sanita, Neurotoxicol & Neuroendocrinol Sect, Dept Cell Biol & Neurosci, I-00161 Rome, Italy. RP Lahvis, GP (reprint author), OHSU, Dept Behav Neurosci, 3181 SW Sam Jackson Pk Rd,Mail Code L470, Portland, OR 97239 USA. EM lahvisg@ohsu.edu RI Alleva, Enrico/B-1630-2013 FU Waisman Center at the University of Wisconsin [P30 HD03352]; National Institute of Drug Abuse [DA022543] FX The authors wish to thank Jan Van Santen and Lois Black of Oregon Health and Science University for communicating their insights to prosodic communication. We also want to acknowledge the Waisman Center at the University of Wisconsin for support (P30 HD03352). This work was supported by R01 funding from the National Institute of Drug Abuse (DA022543). 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PD FEB PY 2011 VL 10 IS 1 BP 4 EP 16 DI 10.1111/j.1601-183X.2010.00603.x PG 13 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 709VG UT WOS:000286468900002 PM 20497235 ER PT J AU Wohr, M Roullet, FI Crawley, JN AF Woehr, M. Roullet, F. I. Crawley, J. N. TI Reduced scent marking and ultrasonic vocalizations in the BTBR T plus tf/J mouse model of autism SO GENES BRAIN AND BEHAVIOR LA English DT Article DE Autism; communication; mice; olfaction; scent marking; social behavior; ultrasonic vocalizations ID MICE MUS-DOMESTICUS; BENZODIAZEPINE RECEPTOR COMPLEX; MALE HOUSE MICE; URINE MARKING; INDIVIDUAL RECOGNITION; INBRED STRAINS; SEX-PHEROMONE; C57BL/6J MICE; SOCIAL-STATUS; T+TF/J MICE AB Qualitative impairments in communication, such as delayed language and poor interactive communication skills, are fundamental to the diagnosis of autism. Investigations into social communication in adult BTBR T+tf/J (BTBR) mice are needed to determine whether this inbred strain incorporates phenotypes relevant to the second diagnostic symptom of autism, communication deficits, along with its strong behavioral phenotypes relevant to the first and third diagnostic symptoms, impairments in social interactions and high levels of repetitive behavior. The aim of the present study was to simultaneously measure female urine-elicited scent marking and ultrasonic vocalizations in adult male BTBR mice, in comparison with a standard control strain with high sociability, C57BL/6J (B6), for the assessment of a potential communication deficit in BTBR. Adult male BTBR mice displayed lower scent marking and minimal ultrasonic vocalization responses to female urine obtained from both B6 and BTBR females. Lower scent marking and ultrasonic vocalizations in a social setting by BTBR, as compared with B6, are consistent with the well-replicated social deficits in this inbred mouse strain. Our findings support the interpretation that BTBR incorporate communication deficits, and suggest that scent marking and ultrasonic vocalizations offer promising measures of interest in social cues that may be widely applicable to investigations of mouse models of autism. C1 [Woehr, M.] Univ Marburg, D-35032 Marburg, Germany. [Woehr, M.; Roullet, F. I.; Crawley, J. N.] NIMH, Lab Behav Neurosci, Intramural Res Program, NIH,Porter Neurosci Res Ctr, Bethesda, MD 20892 USA. RP Wohr, M (reprint author), Univ Marburg, Gutenbergstr 18, D-35032 Marburg, Germany. EM markus.woehr@staff.uni-marburg.de FU National Institute of Mental Health FX This work was supported by the National Institute of Mental Health Intramural Research Program. 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TI Unusual repertoire of vocalizations in adult BTBR T plus tf/J mice during three types of social encounters SO GENES BRAIN AND BEHAVIOR LA English DT Article DE Autism; communication; social approach; social motivation; ultrasonic vocalizations ID ULTRASONIC VOCALIZATIONS; FEMALE MICE; MUS-MUSCULUS; AUTISTIC-CHILDREN; INBRED STRAINS; MOUSE MODELS; T+TF/J MICE; HOUSE MICE; BEHAVIOR; COMMUNICATION AB BTBR T+tf/J (BTBR) is an inbred mouse strain that displays social deficits and repetitive behaviors analogous to the first and third diagnostic symptoms of autism. We previously reported an unusual pattern of ultrasonic vocalizations in BTBR pups that may represent a behavioral homolog to the second diagnostic symptom of autism, impaired communication. This study investigated the social and vocal repertoire in adult BTBR mice, to evaluate the role of ultrasonic vocalizations in multiple social situations at the adult stage of development. Three different social contexts were considered: male-female, male-male (resident-intruder) and female-female interactions. Behavioral responses and ultrasonic vocalizations were recorded for BTBR and for the highly social control strain C57BL/6J (B6). No episodes of overt fighting or mating were observed during the short durations of the three different experimental encounters. BTBR displayed lower levels of vocalizations and social investigation in all three social contexts as compared with B6. In addition, the correlation analyses between social investigation and ultrasonic vocalization emission rate showed that in B6 mice, the two variables were positively correlated in all the three different social settings, whereas in BTBR mice, the positive correlation was significant only in the male-female interactions. These findings strongly support the value of simultaneously recording two aspects of the mouse social repertoire: social motivation and bioacoustic communication. Moreover, our findings in adults are consistent with previous results in pups, showing an unusual vocal repertoire in BTBR as compared with B6. C1 [Scattoni, M. L.; Ricceri, L.] Ist Super Sanita, Neurotoxicol & Neuroendocrinol Sect, Dept Cell Biol & Neurosci, I-00161 Rome, Italy. [Scattoni, M. L.; Crawley, J. N.] NIMH, Lab Behav Neurosci, Intramural Res Program, NIH, Bethesda, MD 20892 USA. RP Scattoni, ML (reprint author), Ist Super Sanita, Neurotoxicol & Neuroendocrinol Sect, Dept Cell Biol & Neurosci, Viale Regina Elena 299, I-00161 Rome, Italy. EM marialuisa.scattoni@iss.it FU National Institute of Mental Health; Istituto Superiore di Sanita [530F/52] FX We are grateful for the excellent technical contributions of our students Maria Adelaide Marconi, Ludovica De Benedetti, Gloria Matte Bon, ISS, and Mark Harris, NIMH. Special thanks go to Professor Stefan Brudzynsky, Brock University, Dr Markus Wohr, University of Marburg, and Raimund Specht, Avisoft Bioacoustics, for their expert advice concerning the unstructured call categorization. We thank Adam Katz, NIMH, for the editing of the supplementary movies. This work was supported by the National Institute of Mental Health Intramural Research Program and Istituto Superiore di Sanita 530F/52 'Neurobehavioral phenotyping of genetically modified mouse models of mental retardation'. 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PD FEB PY 2011 VL 10 IS 1 BP 44 EP 56 DI 10.1111/j.1601-183X.2010.00623.x PG 13 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 709VG UT WOS:000286468900006 PM 20618443 ER PT J AU Zeng, LH Rensing, NR Zhang, B Gutmann, DH Gambello, MJ Wong, M AF Zeng, Ling-Hui Rensing, Nicholas R. Zhang, Bo Gutmann, David H. Gambello, Michael J. Wong, Michael TI Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex SO HUMAN MOLECULAR GENETICS LA English DT Article ID TUMOR-SUPPRESSOR PROTEINS; MAMMALIAN TARGET; BRAIN PATHOLOGY; MTOR; ASTROCYTES; EXPRESSION; PRODUCTS; HYPERTROPHY; MUTATIONS; SURVIVAL AB Tuberous Sclerosis Complex (TSC) is an autosomal dominant, multi-system disorder, typically involving severe neurological symptoms, such as epilepsy, cognitive deficits and autism. Two genes, TSC1 and TSC2, encoding the proteins hamartin and tuberin, respectively, have been identified as causing TSC. Although there is a substantial overlap in the clinical phenotype produced by TSC1 and TSC2 mutations, accumulating evidence indicates that TSC2 mutations cause more severe neurological manifestations than TSC1 mutations. In this study, the neurological phenotype of a novel mouse model involving conditional inactivation of the Tsc2 gene in glial-fibrillary acidic protein (GFAP)-positive cells (Tsc2(GFAP1)CKO mice) was characterized and compared with previously generated Tsc1(GFAP1)CKO mice. Similar to Tsc1(GFAP1)CKO mice, Tsc2(GFAP1)CKO mice exhibited epilepsy, premature death, progressive megencephaly, diffuse glial proliferation, dispersion of hippocampal pyramidal cells and decreased astrocyte glutamate transporter expression. However, Tsc2(GFAP1)CKO mice had an earlier onset and higher frequency of seizures, as well as significantly more severe histological abnormalities, compared with Tsc1(GFAP1)CKO mice. The differences between Tsc1(GFAP1)CKO and Tsc2(GFAP1)CKO mice were correlated with higher levels of mammalian target of rapamycin (mTOR) activation in Tsc2(GFAP1)CKO mice and were reversed by the mTOR inhibitor, rapamycin. These findings provide novel evidence in mouse models that Tsc2 mutations intrinsically cause a more severe neurological phenotype than Tsc1 mutations and suggest that the difference in phenotype may be related to the degree to which Tsc1 and Tsc2 inactivation causes abnormal mTOR activation. C1 [Zeng, Ling-Hui; Rensing, Nicholas R.; Zhang, Bo; Gutmann, David H.; Wong, Michael] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA. [Zeng, Ling-Hui; Rensing, Nicholas R.; Zhang, Bo; Wong, Michael] Washington Univ, Sch Med, Hope Ctr Neurol Disorders, St Louis, MO 63110 USA. [Zeng, Ling-Hui] Zhejiang Univ, City Coll, Dept Pharm, Hangzhou 310015, Zhejiang, Peoples R China. [Gambello, Michael J.] Univ Texas Houston, Hlth Sci Ctr, Div Med Genet, Dept Pediat, Houston, TX 77030 USA. RP Wong, M (reprint author), Washington Univ, Sch Med, Dept Neurol, 660 S Euclid Ave,Box 8111, St Louis, MO 63110 USA. EM wong_m@wustl.edu FU National Institutes of Health [K02NS045583, R01NS056872, P30 NS057105]; Tuberous Sclerosis Alliance; National Nature Science Foundation of China [81072621] FX This work was supported by the National Institutes of Health (K02NS045583 and R01NS056872 to M.W., P30 NS057105 to Washington University), the Tuberous Sclerosis Alliance (M.W.) and National Nature Science Foundation of China (81072621 to L.-H.Z.). 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Mol. Genet. PD FEB PY 2011 VL 20 IS 3 BP 445 EP 454 DI 10.1093/hmg/ddq491 PG 10 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 703UH UT WOS:000286006300005 PM 21062901 ER PT J AU Poirier, M Martin, JS Gaigg, SB Bowler, DM AF Poirier, Marie Martin, Jonathan S. Gaigg, Sebastian B. Bowler, Dermot M. TI Short-Term Memory in Autism Spectrum Disorder SO JOURNAL OF ABNORMAL PSYCHOLOGY LA English DT Article DE autism spectrum disorder; short-term memory; order memory ID IMMEDIATE SERIAL-RECALL; WORKING-MEMORY; WORD-FREQUENCY; CHILDREN; ORDER; MODEL; ITEM; INTACT AB Three experiments examined verbal short-term memory in comparison and autism spectrum disorder (ASD) participants. Experiment 1 involved forward and backward digit recall. Experiment 2 used a standard immediate serial recall task where, contrary to the digit-span task, items (words) were not repeated from list to list. Hence, this task called more heavily on item memory. Experiment 3 tested short-term order memory with an order recognition test: Each word list was repeated with or without the position of 2 adjacent items swapped. The ASD group showed poorer performance in all 3 experiments. Experiments 1 and 2 showed that group differences were due to memory for the order of the items, not to memory for the items themselves. Confirming these findings, the results of Experiment 3 showed that the ASD group had more difficulty detecting a change in the temporal sequence of the items. C1 [Poirier, Marie; Martin, Jonathan S.; Gaigg, Sebastian B.; Bowler, Dermot M.] City Univ London, Dept Psychol, London EC1V 0HB, England. RP Poirier, M (reprint author), City Univ London, Dept Psychol, London EC1V 0HB, England. 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Abnorm. Psychol. PD FEB PY 2011 VL 120 IS 1 BP 247 EP 252 DI 10.1037/a0022298 PG 6 WC Psychology, Clinical; Psychology, Multidisciplinary SC Psychology GA 717VB UT WOS:000287074400023 PM 21319933 ER PT J AU McPartland, JC Webb, SJ Keehn, B Dawson, G AF McPartland, James C. Webb, Sara Jane Keehn, Brandon Dawson, Geraldine TI Patterns of Visual Attention to Faces and Objects in Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorder; Asperger syndrome; Face perception; Visual attention; Eye-tracking; Face recognition ID PERVASIVE DEVELOPMENTAL DISORDER; ASPERGERS-SYNDROME; YOUNG-CHILDREN; EYE CONTACT; RECOGNITION; INDIVIDUALS; PERCEPTION; INVERSION; FIXATION; DEFICITS AB This study used eye-tracking to examine visual attention to faces and objects in adolescents with autism spectrum disorder (ASD) and typical peers. Point of gaze was recorded during passive viewing of images of human faces, inverted human faces, monkey faces, three-dimensional curvilinear objects, and two-dimensional geometric patterns. Individuals with ASD obtained lower scores on measures of face recognition and social-emotional functioning but exhibited similar patterns of visual attention. In individuals with ASD, face recognition performance was associated with social adaptive function. Results highlight heterogeneity in manifestation of social deficits in ASD and suggest that naturalistic assessments are important for quantifying atypicalities in visual attention. C1 [McPartland, James C.] Yale Child Study Ctr, New Haven, CT 06520 USA. [Webb, Sara Jane] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Webb, Sara Jane; Dawson, Geraldine] Univ Washington, Dept Psychol, Seattle, WA 98195 USA. [Webb, Sara Jane] Seattle Childrens Res Inst, Ctr Child Hlth Behav & Dev, Seattle, WA USA. 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Autism Dev. Disord. PD FEB PY 2011 VL 41 IS 2 BP 148 EP 157 DI 10.1007/s10803-010-1033-8 PG 10 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500002 PM 20499148 ER PT J AU Kirchner, JC Hatri, A Heekeren, HR Dziobek, I AF Kirchner, Jennifer C. Hatri, Alexander Heekeren, Hauke R. Dziobek, Isabel TI Autistic Symptomatology, Face Processing Abilities, and Eye Fixation Patterns SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Eye tracking; Autism; Face processing; Autistic symptomatology; Instruction; Emotion recognition ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ASPERGER-SYNDROME; WILLIAMS-SYNDROME; REVISED VERSION; PERCEPTION; INDIVIDUALS; ADOLESCENTS; AMYGDALA AB Deviant gaze behavior is a defining characteristic of autism. Its relevance as a pathophysiological mechanism, however, remains unknown. 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PD FEB PY 2011 VL 41 IS 2 BP 158 EP 167 DI 10.1007/s10803-010-1032-9 PG 10 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500003 PM 20503068 ER PT J AU Wright, B Sims, D Smart, S Alwazeer, A Alderson-Day, B Allgar, V Whitton, C Tomlinson, H Bennett, S Jardine, J McCaffrey, N Leyland, C Jakeman, C Miles, J AF Wright, Barry Sims, David Smart, Siobhan Alwazeer, Ahmed Alderson-Day, Ben Allgar, Victoria Whitton, Clare Tomlinson, Heather Bennett, Sophie Jardine, Jenni McCaffrey, Nicola Leyland, Charlotte Jakeman, Christine Miles, Jeremy TI Melatonin Versus Placebo in Children with Autism Spectrum Conditions and Severe Sleep Problems Not Amenable to Behaviour Management Strategies: A Randomised Controlled Crossover Trial SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Melatonin; Sleep; Autism spectrum disorders; Dysomnia ID PERVASIVE DEVELOPMENTAL DISORDERS; CONTROLLED-RELEASE MELATONIN; NEURODEVELOPMENTAL DISABILITIES; EXOGENOUS MELATONIN; MENTAL-RETARDATION; ORAL MELATONIN; ONSET INSOMNIA; RETT-SYNDROME; YOUNG-ADULTS; ADOLESCENTS AB Twenty-two children with autism spectrum disorders who had not responded to supported behaviour management strategies for severe dysomnias entered a double blind, randomised, controlled crossover trial involving 3 months of placebo versus 3 months of melatonin to a maximum dose of 10 mg. 17 children completed the study. There were no significant differences between sleep variables at baseline. Melatonin significantly improved sleep latency (by an average of 47 min) and total sleep (by an average of 52 min) compared to placebo, but not number of night wakenings. The side effect profile was low and not significantly different between the two arms. C1 [Wright, Barry; Alderson-Day, Ben; Whitton, Clare; Tomlinson, Heather; Bennett, Sophie; Jardine, Jenni; McCaffrey, Nicola] Lime Trees Child Adolescent & Family Unit, York YO30 5RE, N Yorkshire, England. [Sims, David] Hillbrook Child & Family Ctr, Keighley BD20 6LD, W Yorkshire, England. [Smart, Siobhan] Dragon Parade Clin, Harrogate HG1 5BY, N Yorkshire, England. [Alwazeer, Ahmed] Royal Bolton Hosp, Bolton BL4 0JR, LN, England. [Allgar, Victoria] Univ York, Hull York Med Sch, York YO10 5DD, N Yorkshire, England. [Jakeman, Christine; Miles, Jeremy] York Hosp, York YO31 3HE, N Yorkshire, England. 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Autism Dev. Disord. PD FEB PY 2011 VL 41 IS 2 BP 175 EP 184 DI 10.1007/s10803-010-1036-5 PG 10 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500005 PM 20535539 ER PT J AU Avchen, RN Wiggins, LD Devine, O Braun, KV Rice, C Hobson, NC Schendel, D Yeargin-Allsopp, M AF Avchen, Rachel Nonkin Wiggins, Lisa D. Devine, Owen Braun, Kim Van Naarden Rice, Catherine Hobson, Nancy C. Schendel, Diana Yeargin-Allsopp, Marshalyn TI Evaluation of a Records-Review Surveillance System Used to Determine the Prevalence of Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Surveillance; Sensitivity; Specificity; Prevalence ID SCREENING QUESTIONNAIRE; TOTAL POPULATION; UNITED-STATES; CHILDREN; DIAGNOSIS; IDENTIFICATION AB We conducted the first study that estimates the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of a population-based autism spectrum disorders (ASD) surveillance system developed at the Centers for Disease Control and Prevention. The system employs a records-review methodology that yields ASD classification (case versus non-ASD case) and was compared with classification based on clinical examination. The study enrolled 177 children. Estimated specificity (0.96, [CI(.95) = 0.94, 0.99]), PPV (0.79 [CI(.95) = 0.66, 0.93]), and NPV (0.91 [CI(.95) = 0.87, 0.96]) were high. Sensitivity was lower (0.60 [CI(.95) = 0.45, 0.75]). Given diagnostic heterogeneity, and the broad array of ASD in the population, identifying children with ASD is challenging. Records-based surveillance yields a population-based estimate of ASD that is likely conservative. C1 [Avchen, Rachel Nonkin; Wiggins, Lisa D.; Devine, Owen; Braun, Kim Van Naarden; Rice, Catherine; Schendel, Diana; Yeargin-Allsopp, Marshalyn] Ctr Dis Control & Prevent, Dev Disabil Branch, Atlanta, GA 30333 USA. [Hobson, Nancy C.] Res Triangle Inst, Atlanta, GA USA. RP Avchen, RN (reprint author), Ctr Dis Control & Prevent, Dev Disabil Branch, 1600 Clifton Rd,MS E-92, Atlanta, GA 30333 USA. 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Yucel, Aysegul Aral, Arzu Bodur, Sachin Sener, Sahnur TI Increased Serum Levels of Epidermal Growth Factor in Children with Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Developmental disorders; Epidermal growth factor; Growth factors ID DOPAMINERGIC-NEURONS; CHILDHOOD AUTISM; RATING-SCALE; FACTOR-ALPHA; SCHIZOPHRENIA; CULTURE; BRAIN; DISORDERS AB The etiology of autism is unclear, however autism is considered as a multifactorial disorder that is influenced by neurological, environmental, immunological and genetic factors. Growth factors, including epidermal growth factor (EGF), play an important role in the celluler proliferation and the differentiation of the central and peripheral nervous system. In this study we hypothesized that EGF may play a role in the pathophysiology of autism and examined serum EGF levels in children with autism. We measured serum levels of EGF in the 27 autistic children and 28 age- matched normal controls. The serum levels of EGF in the subjects with autism were significantly higher than those of normal control subjects. However, there were no correlations between serum EGF levels and clinical variables in the subjects with autism. This is the first report demonstrating the increased serum levels of EGF in children with autism. This study suggests that increased levels of EGF might have an importance in the pathophysiology of autism. C1 [Iseri, Elvan; Sener, Sahnur] Gazi Univ, Child & Adolescent Psychiat Dept, Fac Med, Ankara, Turkey. [Guney, Esra] Corum State Hosp, Child & Adolescent Psychiat Dept, Corum, Turkey. [Ceylan, Mehmet F.] Kayseri Educ & Res Hosp, Child & Adolescent Psychiat Dept, Kayseri, Turkey. [Yucel, Aysegul; Aral, Arzu] Gazi Univ, Dept Immunol, Fac Med, Ankara, Turkey. [Bodur, Sachin] Sami Ulus Child Hosp, Child & Adolescent Psychiat Dept, Ankara, Turkey. RP Iseri, E (reprint author), Gazi Univ, Child & Adolescent Psychiat Dept, Fac Med, Ankara, Turkey. 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Autism Dev. Disord. PD FEB PY 2011 VL 41 IS 2 BP 237 EP 241 DI 10.1007/s10803-010-1046-3 PG 5 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500010 PM 20544265 ER PT J AU Sasson, NJ Elison, JT Turner-Brown, LM Dichter, GS Bodfish, JW AF Sasson, Noah J. Elison, Jed T. Turner-Brown, Lauren M. Dichter, Gabriel S. Bodfish, James W. TI Brief Report: Circumscribed Attention in Young Children with Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Attention; Visual exploration; Toddlers; Perseveration ID REPETITIVE BEHAVIOR; SPECTRUM DISORDERS; DEFICITS; LIFE AB School-aged children and adolescents with autism demonstrate circumscribed attentional patterns to nonsocial aspects of complex visual arrays (Sasson et al. 2008). The current study downward extended these findings to a sample of 2-5 year-olds with autism and 2-5 year-old typically developing children. Eye-tracking was used to quantify discrete aspects of visual attention to picture arrays containing combinations of social pictures, pictures of objects frequently involved in circumscribed interests in persons with autism (e.g., trains), and pictures of more commonplace objects (e.g., clothing). The children with autism exhibited greater exploration and perseverative attention on objects related to circumscribed interests than did typically developing children. Results suggest that circumscribed attention may be an early emerging characteristic of autism. C1 [Sasson, Noah J.] Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75080 USA. [Elison, Jed T.; Turner-Brown, Lauren M.; Dichter, Gabriel S.; Bodfish, James W.] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA. [Elison, Jed T.] Univ N Carolina, Sch Arts & Sci, Dept Psychol, Chapel Hill, NC 27599 USA. [Dichter, Gabriel S.; Bodfish, James W.] Univ N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA. [Dichter, Gabriel S.] Duke Univ, Med Ctr, Duke UNC Brain Imaging & Anal Ctr, Durham, NC 27710 USA. [Dichter, Gabriel S.] Duke Univ, Med Ctr, Dept Psychiat & Behav Sci, Durham, NC 27710 USA. [Bodfish, James W.] Univ N Carolina, Ctr Dev & Learning, Chapel Hill, NC 27599 USA. RP Sasson, NJ (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci, GR41 800 W Campbell Rd, Richardson, TX 75080 USA. 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Autism Dev. Disord. PD FEB PY 2011 VL 41 IS 2 BP 242 EP 247 DI 10.1007/s10803-010-1038-3 PG 6 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500011 PM 20499147 ER PT J AU Shtayermman, O AF Shtayermman, Oren TI In His Shoes: A Short Journey Through Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Book Review C1 [Shtayermman, Oren] New York Inst Technol, Dept Interdisciplinary Hlth Sci, Sch Hlth Profess, Old Westbury, NY 11568 USA. RP Shtayermman, O (reprint author), New York Inst Technol, Dept Interdisciplinary Hlth Sci, Sch Hlth Profess, Room 354-366, Old Westbury, NY 11568 USA. EM oshtayer@nyit.edu CR KEATINGVELASCO JL, 2008, SHOES SHORT JOURNEY 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 FEB PY 2011 VL 41 IS 2 BP 256 EP 256 DI 10.1007/s10803-010-0970-6 PG 1 WC Psychology, Developmental SC Psychology GA 708WH UT WOS:000286394500014 ER PT J AU Kannan, S Saadani-Makki, F Balakrishnan, B Dai, H Chakraborty, PK Janisse, J Muzik, O Romero, R Chugani, DC AF Kannan, Sujatha Saadani-Makki, Fadoua Balakrishnan, Bindu Dai, Hui Chakraborty, Pulak K. Janisse, James Muzik, Otto Romero, Roberto Chugani, Diane C. TI Decreased cortical serotonin in neonatal rabbits exposed to endotoxin in utero SO JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM LA English DT Article DE autism; cerebral palsy; maternal inflammation; PET; serotonin; somatosensory ID PRIMARY SOMATOSENSORY CORTEX; CEREBRAL-PALSY; NEURODEVELOPMENTAL DISORDERS; INDOLEAMINE 2,3-DIOXYGENASE; THALAMOCORTICAL AXONS; KYNURENINE PATHWAY; MONOAMINE-OXIDASE; HUMAN PLACENTA; BRAIN; INFECTION AB Maternal intrauterine inflammation is implicated in neurodevelopmental disorders in the offspring. Serotonin is crucial for regulating maturation in the developing brain, and maternal inflammation may result in disruption of the serotonergic system in the perinatal period. Saline or endotoxin was injected intrauterine in pregnant rabbits term. Newborn rabbits underwent positron emission tomography (PET) imaging with alpha[(11)C]methyl-L-tryptophan (AMT) to evaluate tryptophan metabolism in vivo. Decrease in standard uptake value for AMT and decrease in serotonin concentration was noted in the frontal and parietal cortices of endotoxin kits when compared with controls. In addition, a significant decrease in serotonin-immunoreactive fibers and decreased expression of serotonin transporter (5HTT) was measured in the somatosensory cortex. There was a three-fold increase in the number of apoptotic cells in the ventrobasal (VB) thalamus without loss of raphe serotonergic cell bodies in endotoxin kits when compared with controls. Glutamateric VB neurons projecting to somatosensory cortex transiently express 5HTT and store serotonin, regulating development of the somatosensory cortex. Intrauterine inflammation results in alterations in cortical serotonin and disruption of serotonin-regulated thalamocortical development in the newborn brain. This may be a common link in neurodevelopmental disorders resulting in impairment of the somatosensory system, such as cerebral palsy and autism. Journal of Cerebral Blood Flow & Metabolism (2011) 31, 738-749; doi:10.1038/jcbfm.2010.156; published online 8 September 2010 C1 [Kannan, Sujatha; Saadani-Makki, Fadoua; Balakrishnan, Bindu; Dai, Hui; Muzik, Otto; Chugani, Diane C.] Wayne State Univ, Sch Med, Childrens Hosp Michigan, Dept Pediat, Detroit, MI 48201 USA. [Chakraborty, Pulak K.; Muzik, Otto; Chugani, Diane C.] Wayne State Univ, Sch Med, Childrens Hosp Michigan, Dept Radiol, Detroit, MI 48201 USA. [Janisse, James] Dept Family Med & Publ Hlth Sci, Detroit, MI USA. [Romero, Roberto] NICHD, Perinatol Res Branch, NIH, DHHS, Bethesda, MD USA. [Romero, Roberto] NICHD, Perinatol Res Branch, NIH, DHHS, Detroit, MI USA. RP Kannan, S (reprint author), Wayne State Univ, Sch Med, Childrens Hosp Michigan, Dept Pediat, 3901 Beaubien Blvd, Detroit, MI 48201 USA. EM skannan@med.wayne.edu FU NICHD, NIH; Perinatology Research Branch, Eunice Kennedy Shriver NICHD, NIH, DHHS; [1K08HD050652] FX This study was supported in part by 1K08HD050652, NICHD, NIH, and the Perinatology Research Branch, Eunice Kennedy Shriver NICHD, NIH, DHHS. 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Cereb. Blood Flow Metab. PD FEB PY 2011 VL 31 IS 2 BP 738 EP 749 DI 10.1038/jcbfm.2010.156 PG 12 WC Endocrinology & Metabolism; Hematology; Neurosciences SC Endocrinology & Metabolism; Hematology; Neurosciences & Neurology GA 715XY UT WOS:000286930100034 PM 20827261 ER PT J AU Handen, BL Johnson, CR McAuliffe-Bellin, S Murray, PJ Hardan, AY AF Handen, Benjamin L. Johnson, Cynthia R. McAuliffe-Bellin, Sarah Murray, Patricia Jo Hardan, Antonio Y. TI Safety and Efficacy of Donepezil in Children and Adolescents with Autism: Neuropsychological Measures SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID SPECTRUM DISORDERS; EXECUTIVE FUNCTION; ABNORMALITIES; INDIVIDUALS; CORTEX; TRIAL AB Objective: There has been recent interest in the use of cognitive enhancing drugs, such as cholinesterase inhibitors, as a possible treatment for executive functioning (EF) deficits in autism spectrum disorder (ASD). The goal of this study was to assess the tolerability, safety, and efficacy of donepezil on EF in a sample of children and adolescents with ASD. Method: Thirty-four children and adolescents with ASD (age range 8-17 years; IQ > 75) were enrolled in a 10-week, double-blind, placebo-controlled trial of donepezil (doses of 5 and 10 mg), followed by a 10-week open label trial for placebo nonresponders. Results: The effect of donepezil treatment on EF was examined. Despite improvement on a number of EF measures, no statistically significant between-group differences were found (with gains observed for both the placebo and donepezil groups). Conclusions: The results suggest that short-term treatment with donepezil may have limited impact on cognitive functioning in ASD. Future controlled trials may need to consider a longer treatment period to detect significant gains on EF measures. C1 [Handen, Benjamin L.; McAuliffe-Bellin, Sarah; Murray, Patricia Jo] Western Psychiat Inst & Clin, Dept Psychiat, Pittsburgh, PA 15203 USA. [Handen, Benjamin L.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA. [Johnson, Cynthia R.] Childrens Hosp Pittsburgh, Dept Pediat, Pittsburgh, PA 15213 USA. [Hardan, Antonio Y.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA. RP Handen, BL (reprint author), Western Psychiat Inst & Clin, Dept Psychiat, 1011 Bingham St, Pittsburgh, PA 15203 USA. EM handenbl@upmc.edu FU NIMH [5R21 MH64941-03]; Forest; Bristol Myers Squib; Pfizer; Neuropharm; Curemark FX This study was supported by NIMH grant #5R21 MH64941-03 (Treating Cognitive Deficits in Autism) as well as by a gift by Pfizer and Eisai Pharmaceutical Companies (who also provided the medication and placebo for this trial).Forest, Bristol Myers Squib, Pfizer, Neuropharm, Curemark. 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M., 1989, INTRO COGNITIVE REHA SWANSON JM, 1976, SCIENCE, V192, P1754 Wechsler D, 1999, WECHSLER ABBREVIATED WELSH MC, 1988, DEV NEUROPSYCHOL, V4, P199 YOO HJ, 2007, J AUTISM DEV DISORD, V37, P1883 NR 36 TC 11 Z9 11 PU MARY ANN LIEBERT INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1044-5463 J9 J CHILD ADOL PSYCHOP JI J. Child Adolesc. Psychopharmacol. PD FEB PY 2011 VL 21 IS 1 BP 43 EP 50 DI 10.1089/cap.2010.0024 PG 8 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 719SS UT WOS:000287230000004 PM 21309696 ER PT J AU Shipman, DL Sheldrick, RC Perrin, EC AF Shipman, Deborah L. Sheldrick, R. Christopher Perrin, Ellen C. TI Quality of Life in Adolescents With Autism Spectrum Disorders: Reliability and Validity of Self-Reports SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE autism; quality of life; proxy; adolescents; parent-child agreement; inter-rater agreement ID MENTAL-DISORDERS; CHILDREN; INDIVIDUALS; PARENTS; ADULTS; MIND AB Purpose: This study examined the reliability and validity of self-reported quality of life (QoL) among adolescents with autism spectrum disorders (ASDs) but without mental retardation (IQ > 70) using a validated QoL measure, Pediatric Quality of Life Inventory. Secondarily, the self-reported QoL of adolescents with ASDs was compared with published normative data. Methods: Thirty-nine adolescents with ASDs and their parents completed a QoL instrument and brief measures of psychosocial distress and self-esteem. A screening test of cognitive abilities was administered to adolescents; parents completed an assessment of behavioral and emotional symptoms and an assessment of the presence and extent of autistic social impairments. Results: Adolescent self-reports of QoL demonstrated internal reliability and concurrent validity. Self-reports on the Pediatric Quality of Life Inventory demonstrated moderate to large positive correlations with a measure of self-esteem and moderate to large negative correlations with measures of anxiety and mood. Concurrent validity with parent proxy reports fell within the range of expected values based on past studies of inter-rater reliability for QoL, with parents of adolescents reporting lower QoL when compared with adolescent reports. Adolescents reported QoL below the population mean for all domains. Conclusions: Results of this study provide preliminary evidence that adolescents with ASDs are able to report on their own QoL in a valid and reliable manner. Based on our findings, the measurement of QoL may be useful for clinical care and research about adolescents with ASDs. C1 [Shipman, Deborah L.] Fallon Clin Inc, Dept Pediat, Worcester, MA 01605 USA. [Sheldrick, R. Christopher; Perrin, Ellen C.] Dev Behav Pediat Floating Hosp, Tufts Med Ctr, Boston, MA USA. RP Shipman, DL (reprint author), Fallon Clin Inc, Dept Pediat, 630 Plantat St, Worcester, MA 01605 USA. 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Dev. Behav. Pediatr. PD FEB-MAR PY 2011 VL 32 IS 2 BP 85 EP 89 DI 10.1097/DBP.0b013e318203e558 PG 5 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 715WX UT WOS:000286925800001 PM 21187785 ER PT J AU Smith, N AF Smith, Nicola TI Making Sense of Autism Spectrum Disorders SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Book Review C1 [Smith, Nicola] Tufts Floating Hosp Children, Ctr Children Special Needs, Boston, MA 02111 USA. RP Smith, N (reprint author), Tufts Floating Hosp Children, Ctr Children Special Needs, Boston, MA 02111 USA. CR COPLAN J, 2010, MAKING SENSE AUTISM NR 1 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 0196-206X J9 J DEV BEHAV PEDIATR JI J. Dev. Behav. Pediatr. PD FEB-MAR PY 2011 VL 32 IS 2 BP 168 EP 168 DI 10.1097/DBP.0b013e3182040d8a PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 715WX UT WOS:000286925800014 ER PT J AU Yun, SH Trommer, BL AF Yun, Sung Hwan Trommer, Barbara L. TI Fragile X Mice: Reduced Long-Term Potentiation and N-Methyl-D-Aspartate Receptor-Mediated Neurotransmission in Dentate Gyrus SO JOURNAL OF NEUROSCIENCE RESEARCH LA English DT Article DE autism; fragile X syndrome; granule cells; synaptic plasticity ID MENTAL-RETARDATION PROTEIN; FMR1 KNOCKOUT MICE; PATTERN SEPARATION; SYNAPTIC PLASTICITY; INDUCED INCREASE; MOUSE MODEL; IN-VITRO; AUTISM; MEMORY; HIPPOCAMPUS AB Fragile X syndrome (FXS) is a monogenic mental retardation syndrome that frequently includes autism. The Fmr1-knockout (Fmr1-KO) mouse, like FXS-affected individuals, lacks the fragile X mental retardation protein (FMRP) and models autism as well as FXS. Limited human data and several mouse models have implicated the hippocampal dentate gyrus (DG) in autism. We therefore investigated whether the Fmr1-KO mouse exhibited functional changes in DG. We found diminished medial perforant path-granule cell long-term potentiation (LTP), complementing previous investigations of synaptic plasticity in Fmr1-KO demonstrating impaired LTP in CA1, neocortex, and amygdala and exaggerated long-term depression in CA1. We also found that peak amplitude of NMDA receptor-mediated excitatory postsynaptic currents (EPSCs) was smaller in Fmr1-KO than control. AMPA receptor-mediated EPSCs were comparable in the two strains, yielding a lower NMDA/AMPA ratio in Fmr1-KO mice and suggesting one mechanism by which absent FMRP might contribute to diminished LTP. The clinical hallmarks of autism include both excessive adherence to patterns and impaired detection of socially important patterns. The DG has a putative role in pattern separation (for time, space, and features) that has been attributed to granule cell number, firing rates, adult neurogenesis, and even perforant path LTP. DG also contributes to pattern completion in CA3 via its mossy fiber efferents, whose terminals include abundant FMRP in "fragile X granules." Together with the present data, these observations suggest that DG is a candidate region for further investigation in autism and that the Fmr1-KO model may be particularly apt. (C) 2010 Wiley-Liss, Inc. C1 [Yun, Sung Hwan; Trommer, Barbara L.] Maimonides Hosp, Dept Pediat, Brooklyn, NY 11219 USA. [Yun, Sung Hwan; Trommer, Barbara L.] Maimonides Hosp, Dept Res, Brooklyn, NY 11219 USA. [Yun, Sung Hwan; Trommer, Barbara L.] NorthShore Univ HealthSyst Res Inst, Evanston, IL USA. [Yun, Sung Hwan; Trommer, Barbara L.] Northwestern Univ, Sch Med, Dept Pediat, Chicago, IL 60611 USA. [Trommer, Barbara L.] Suny Downstate Med Ctr, Dept Pediat, Brooklyn, NY 11203 USA. RP Trommer, BL (reprint author), Maimonides Hosp, Dept Pediat, 4802 10th Ave, Brooklyn, NY 11219 USA. EM btrommer@maimonidesmed.org FU Maimonides Research and Development Foundation; C. Robert Passantino Charitable Remainder Trust; Crown Family FX Contract grant sponsor: Maimonides Research and Development Foundation (to B. L. T.); Contract grant sponsor: C. Robert Passantino Charitable Remainder Trust (to B. L. T.); Contract grant sponsor: Crown Family (to S.H.Y.). 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Neurosci. Res. PD FEB PY 2011 VL 89 IS 2 BP 176 EP 182 DI 10.1002/jnr.22546 PG 7 WC Neurosciences SC Neurosciences & Neurology GA 696QL UT WOS:000285456400006 PM 21162125 ER PT J AU Driscoll, DM Dal Monte, O Grafman, J AF Driscoll, David M. Dal Monte, Olga Grafman, Jordan TI A Need for Improved Training Interventions for the Remediation of Impairments in Social Functioning following Brain Injury SO JOURNAL OF NEUROTRAUMA LA English DT Review DE brain injury; neuroplasticity; rehabilitation; social cognition; social skills ID EMOTION PERCEPTION DEFICITS; FACIAL AFFECT RECOGNITION; SCHIZOPHRENIA SPECTRUM DISORDERS; SEVERE HEAD-INJURY; COGNITIVE REHABILITATION; VIRTUAL-REALITY; MIND; SKILLS; AUTISM; ADULTS AB Social functioning deficits are a prominent feature of many neurological and psychiatric conditions, and may include disruption in the acquisition or application of basic or complex social skills. Such disturbances are often resistant to treatment, and individuals with such conditions are often faced with lifelong difficulties in maintaining personal relationships, employment, and independent living. In recent years, a number of psychosocial treatments have been developed to address this growing problem. In this article, we review studies investigating the use of psychosocial training interventions in individuals with acquired brain injuries, which frequently require intervention for impairments in cognitive and social functioning. We then discuss limitations of these studies and highlight specific areas in which such treatments might be improved in the future. C1 [Driscoll, David M.; Dal Monte, Olga; Grafman, Jordan] NINDS, Cognit Neurosci Sect, NIH, Bethesda, MD 20892 USA. RP Grafman, J (reprint author), NINDS, Cognit Neurosci Sect, NIH, Bldg 10,Room 7D43,10 Ctr Dr,MSC 1440, Bethesda, MD 20892 USA. EM grafmanj@ninds.nih.gov FU U.S. National Institute of Neurological Disorders and Stroke; Center for Neuroscience and Regenerative Medicine FX This work was supported by funding from the U.S. National Institute of Neurological Disorders and Stroke intramural research program, and the Center for Neuroscience and Regenerative Medicine. 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Neurotrauma PD FEB PY 2011 VL 28 IS 2 BP 319 EP 326 DI 10.1089/neu.2010.1523 PG 8 WC Critical Care Medicine; Clinical Neurology; Neurosciences SC General & Internal Medicine; Neurosciences & Neurology GA 719UE UT WOS:000287234700015 PM 21121768 ER PT J AU Godzien, J Ciborowski, M Angulo, S Ruperez, FJ Martinez, MP Senorans, FJ Cifuentes, A Ibanez, E Barbas, C AF Godzien, Joanna Ciborowski, Michal Angulo, Santiago Ruperez, Francisco J. Paz Martinez, Ma Senorans, Francisco J. Cifuentes, Alejandro Ibanez, Elena Barbas, Coral TI Metabolomic Approach with LC-QTOF to Study the Effect of a Nutraceutical Treatment on Urine of Diabetic Rats SO JOURNAL OF PROTEOME RESEARCH LA English DT Article DE LC-MS; biostatistics; urine fingerprinting; antioxidants; Rosmarinus officinalis; folic acid ID ROSEMARY ROSMARINUS-OFFICINALIS; SUPERCRITICAL-FLUID EXTRACTION; OXIDATIVE STRESS; HYPERGLYCEMIA; ANTIOXIDANTS; RABBITS; SAMPLES; PLASMA; PLANTS; MS AB The rat treated with streptozotocin has been proposed as the most appropriate model of systemic oxidative stress for studying antioxidant therapies. In that sense, rosemary extracts have long been recognized as having antioxidant properties, and folic acid may be able to improve endothelial progenitor cell function. A mixture containing both has been tested as a possible nutraceutical to improve health complications in diabetes. We have developed the methodology to evaluate metabolic changes in the urine of streptozotocin-induced diabetic rats after supplementing their diet with rosemary extract obtained with supercritical fluids (SFE) containing 10% folic acid in an acute but short-term study. It has been done with a metabolomics approach using LC-QTOF as an analytical tool. About 20 endogenous metabolites have been identified by databases and MS/MS showing statistically significant changes. Among them, several amino acids and their metabolites point to changes due to the effect of the gut microbiota. In addition, the comparison between control and streptozotocin-diabetic rats has permitted the showing of some metabolic coincidences between type 1 diabetes and other (possible) autoimmune diseases such as autism and/or Crohn's disease, and the nutraceutical intervention has succeeded in inducing changes in such biomarkers. C1 [Godzien, Joanna; Ciborowski, Michal; Angulo, Santiago; Ruperez, Francisco J.; Paz Martinez, Ma; Barbas, Coral] San Pablo CEU Univ, Fac Pharm, CEMBIO, Madrid 28668, Spain. [Godzien, Joanna] John Paul II Catholic Univ Lublin, Dept Mol Biol, Fac Math & Nat Sci, PL-20718 Lublin, Poland. [Ciborowski, Michal] Med Univ Bialystok, Dept Phys Chem, PL-15089 Bialystok, Poland. [Senorans, Francisco J.] Univ Autonoma Madrid, Secc Dept Ciencias Alimentac, E-28049 Madrid, Spain. [Cifuentes, Alejandro; Ibanez, Elena] CSIC, Food Sci Res Inst, Dept Food Anal & Bioact, E-28049 Madrid, Spain. RP Barbas, C (reprint author), San Pablo CEU Univ, Fac Pharm, CEMBIO, Campus Monteprincipe, Madrid 28668, Spain. EM cbarbas@ceu.es RI CIFUENTES, ALEJANDRO/B-4715-2011; Ruperez, Francisco Javier/I-8360-2012; Ibanez, Elena/B-8465-2011; Senorans, Francisco Javier/L-2583-2013; Angulo Diaz-Parreno, Santiago/L-3035-2014; Barbas, Coral/K-3871-2014 OI CIFUENTES, ALEJANDRO/0000-0002-7464-0217; Ruperez, Francisco Javier/0000-0001-6457-6234; Ibanez, Elena/0000-0003-2127-8303; Senorans, Francisco Javier/0000-0002-0775-6957; Barbas, Coral/0000-0003-4722-491X FU EADS-CASA; Ministry of Science and Innovation (MICINN) [CTQ2008-03779]; Comunidad de Madrid [S-GEN-0247-2006] FX We acknowledge EADS-CASA, Ministry of Science and Innovation (MICINN) CTQ2008-03779, and Comunidad de Madrid, S-GEN-0247-2006, for funding. 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Proteome Res. PD FEB PY 2011 VL 10 IS 2 BP 837 EP 844 DI 10.1021/pr100993x PG 8 WC Biochemical Research Methods SC Biochemistry & Molecular Biology GA 715GI UT WOS:000286868500043 PM 21087057 ER PT J AU Kaidanovich-Beilin, O Lipina, T Vukobradovic, I Roder, J Woodgett, JR AF Kaidanovich-Beilin, Oksana Lipina, Tatiana Vukobradovic, Igor Roder, John Woodgett, James R. TI Assessment of Social Interaction Behaviors SO JOVE-JOURNAL OF VISUALIZED EXPERIMENTS LA English DT Article DE Neuroscience; Issue 48; Mice; behavioral test; phenotyping; social interaction AB Social interactions are a fundamental and adaptive component of the biology of numerous species. Social recognition is critical for the structure and stability of the networks and relationships that define societies. For animals, such as mice, recognition of conspecifics may be important for maintaining social hierarchy and for mate choice(1). A variety of neuropsychiatric disorders are characterized by disruptions in social behavior and social recognition, including depression, autism spectrum disorders, bipolar disorders, obsessive-compulsive disorders, and schizophrenia. Studies of humans as well as animal models (e.g., Drosophila melanogaster, Caenorhabditis elegans, Mus musculus, Rattus norvegicus) have identified genes involved in the regulation of social behavior(2). To assess sociability in animal models, several behavioral tests have been developed (reviewed in(3)). Integrative research using animal models and appropriate tests for social behavior may lead to the development of improved treatments for social psychopathologies. The three-chamber paradigm test known as Crawley's sociability and preference for social novelty protocol has been successfully employed to study social affiliation and social memory in several inbred and mutant mouse lines (e.g.(4-7)). The main principle of this test is based on the free choice by a subject mouse to spend time in any of three box's compartments during two experimental sessions, including indirect contact with one or two mice with which it is unfamiliar. To quantitate social tendencies of the experimental mouse, the main tasks are to measure a) the time spent with a novel conspecific and b) preference for a novel vs. a familiar conspecific. Thus, the experimental design of this test allows evaluation of two critical but distinguishable aspects of social behavior, such as social affiliation/motivation, as well as social memory and novelty. "Sociability" in this case is defined as propensity to spend time with another mouse, as compared to time spent alone in an identical but empty chamber(7). "Preference for social novelty" is defined as propensity to spend time with a previously unencountered mouse rather than with a familiar mouse(7). This test provides robust results, which then must be carefully analyzed, interpreted and supported/confirmed by alternative sociability tests. In addition to specific applications, Crawley's sociability test can be included as an important component of general behavioral screen of mutant mice. C1 [Kaidanovich-Beilin, Oksana; Lipina, Tatiana; Roder, John; Woodgett, James R.] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, New York, NY 10029 USA. [Vukobradovic, Igor] Mt Sinai Hosp, Toronto Ctr Phenogen, New York, NY USA. [Roder, John; Woodgett, James R.] Univ Toronto, Dept Med Biophys, Toronto, ON M5S 1A1, Canada. [Roder, John] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada. [Roder, John] Univ Toronto, Dept Psychiat, Toronto, ON M5S 1A1, Canada. RP Woodgett, JR (reprint author), Mt Sinai Hosp, Samuel Lunenfeld Res Inst, New York, NY 10029 USA. EM woodgett@lunenfeld.ca FU CIHR [MOP 74711] FX OKB and JRW wrote the manuscript. This work was supported by CIHR grant MOP 74711 (to JRW). 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Vis. Exp. PD FEB PY 2011 IS 48 DI 10.3791/2473 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA V36LG UT WOS:000209212900027 ER PT J AU Penzes, P Woolfrey, KM Srivastava, DP AF Penzes, Peter Woolfrey, Kevin M. Srivastava, Deepak P. TI Epac2-mediated dendritic spine remodeling: Implications for disease SO MOLECULAR AND CELLULAR NEUROSCIENCE LA English DT Review DE Dendritic spine; Autism; Neuroligin; GEF; Rap; GTPase; GluR2; cAMP; Dopamine ID LONG-TERM DEPRESSION; AMPA RECEPTOR TRAFFICKING; SYNAPTIC PLASTICITY; CYCLIC-AMP; MENTAL-RETARDATION; STRUCTURAL PLASTICITY; EXCHANGE PROTEIN; FRAGILE-X; FUNCTIONAL PLASTICITY; AUTISTIC-CHILDREN AB In the mammalian forebrain, most glutamatergic excitatory synapses occur on small dendritic protrusions called dendritic spines. Dendritic spines are highly plastic and can rapidly change morphology in response to numerous stimuli. This dynamic remodeling of dendritic spines is thought to be critical for information processing, memory and cognition. Conversely, multiple studies have revealed that neuropathologies such as autism spectrum disorders (ASDs) are linked with alterations in dendritic spine morphologies and miswiring of neural circuitry. One compelling hypothesis is that abnormal dendritic spine remodeling is a key contributing factor for this miswiring. Ongoing research has identified a number of mechanisms that are critical for the control of dendritic spine remodeling. Among these mechanisms, regulation of small GTPase signaling by guanine-nucleotide exchange factors (GEFs) is emerging as a critical mechanism for integrating physiological signals in the control of dendritic spine remodeling. Furthermore, multiple proteins associated with regulation of dendritic spine remodeling have also been implicated with multiple neuropathologies, including ASDs. Epac2, a GEF for the small GTPase Rap, has recently been described as a novel cAMP (yet PICA-independent) target localized to dendritic spines. Signaling via this protein in response to pharmacological stimulation or CAMP accumulation, via the dopamine D1/5 receptor, results in Rap activation, promotes structural destabilization, in the form of dendritic spine shrinkage, and functional depression due to removal of GluR2/3-containing AMPA receptors. In addition, Epac2 forms macromolecular complexes with ASD-associated proteins, which are sufficient to regulate Epac2 localization and function. Furthermore, rare non-synonymous variants of the EPAC2 gene associated with the ASD phenotype alter protein function, synaptic protein distribution, and spine morphology. We review here the role of Epac2 in the remodeling of dendritic spines under normal conditions, the mechanisms that underlie these effects, and the implications these disease-associated variants have on our understanding of the pathophysiology of ASD. Published by Elsevier Inc. C1 [Penzes, Peter; Woolfrey, Kevin M.; Srivastava, Deepak P.] Northwestern Univ, Dept Physiol, Feinberg Sch Med, Chicago, IL 60611 USA. [Penzes, Peter] Northwestern Univ, Dept Psychiat & Behav Sci, Feinberg Sch Med, Chicago, IL 60611 USA. RP Penzes, P (reprint author), Northwestern Univ, Dept Physiol, Feinberg Sch Med, Chicago, IL 60611 USA. EM p-penzes@northwestern.edu FU National Alliance for Autism Research (NAAR); National Alliance for Research on Schizophrenia and Depression (NARSAD); Alzheimer's Association; NIH [MH 071316]; American Heart Association (AHA) FX We would like to thank Kelly A. Jones for careful editing of this work. 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TC 18 Z9 18 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1044-7431 J9 MOL CELL NEUROSCI JI Mol. Cell. Neurosci. PD FEB PY 2011 VL 46 IS 2 BP 368 EP 380 DI 10.1016/j.mcn.2010.11.008 PG 13 WC Neurosciences SC Neurosciences & Neurology GA 716EL UT WOS:000286951800002 PM 21115118 ER PT J AU [Anonymous] AF [Anonymous] TI Study of toddlers with autism suggests that targeted intervention can benefit social skills SO NEUROPSYCHIATRY LA English DT News Item CR Landa RJ, 2011, J CHILD PSYCHOL PSYC, V52, P13, DOI 10.1111/j.1469-7610.2010.02288.x NR 1 TC 0 Z9 0 PU FUTURE MEDICINE LTD PI LONDON PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3 1QB, ENGLAND SN 1758-2008 J9 NEUROPSYCHIATRY-LOND JI Neuropsychiatry PD FEB PY 2011 VL 1 IS 1 BP 14 EP 14 PG 1 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 959LQ UT WOS:000305314300008 ER PT J AU Hillock, AR Powers, AR Wallace, MT AF Hillock, Andrea R. Powers, Albert R. Wallace, Mark T. TI Binding of sights and sounds: Age-related changes in multisensory temporal processing SO NEUROPSYCHOLOGIA LA English DT Article DE Intersensory; Auditory; Visual; Development; Simultaneity; Asynchrony ID INFANTS PERCEPTION; AUDITORY DETECTION; VISUAL SPEECH; INTEGRATION; INFORMATION; CHILDREN; EVENTS; SYNCHRONY; DYSLEXIA; HUMANS AB We live in a multisensory world and one of the challenges the brain is faced with is deciding what information belongs together. Our ability to make assumptions about the relatedness of multisensory stimuli is partly based on their temporal and spatial relationships. Stimuli that are proximal in time and space are likely to be bound together by the brain and ascribed to a common external event. Using this framework we can describe multisensory processes in the context of spatial and temporal filters or windows that compute the probability of the relatedness of stimuli. Whereas numerous studies have examined the characteristics of these multisensory filters in adults and discrepancies in window size have been reported between infants and adults, virtually nothing is known about multisensory temporal processing in childhood. To examine this, we compared the ability of 10 and 11 year olds and adults to detect audiovisual temporal asynchrony. Findings revealed striking and asymmetric age-related differences. Whereas children were able to identify asynchrony as readily as adults when visual stimuli preceded auditory cues, significant group differences were identified at moderately long stimulus onset asynchronies (150-350 ms) where the auditory stimulus was first. Results suggest that changes in audiovisual temporal perception extend beyond the first decade of life. In addition to furthering our understanding of basic multisensory developmental processes, these findings have implications on disorders (e.g., autism, dyslexia) in which emerging evidence suggests alterations in multisensory temporal function. (C) 2010 Elsevier Ltd. All rights reserved. C1 [Hillock, Andrea R.; Wallace, Mark T.] Vanderbilt Univ, Dept Hearing & Speech Sci, Nashville, TN 37235 USA. [Powers, Albert R.] Vanderbilt Univ, Med Sci Training Program, Nashville, TN USA. [Wallace, Mark T.] Vanderbilt Univ, Dept Psychol, Nashville, TN 37240 USA. [Hillock, Andrea R.; Wallace, Mark T.] Vanderbilt Univ, Kennedy Ctr, Nashville, TN 37240 USA. RP Hillock, AR (reprint author), Care of Wallace M, 465 21st Ave S,Room 7110 MRB III, Nashville, TN 37232 USA. EM andrea.hillock@vanderbilt.edu FU Vanderbilt University Kennedy Center; National Institute for Deafness and Other Communication Disorders [F30 DC009759] FX We thank Drs. Linda Hood, Wesley Grantham, Alexandra Key and David Royal for their intellectual contributions as well as Dr. Lynnette Henderson for her assistance with subject recruitment. This work was supported by the Vanderbilt University Kennedy Center and the National Institute for Deafness and Other Communication Disorders (Grant F30 DC009759). 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Prosody as a test case for the Theory of Mind account of autism SO NEUROPSYCHOLOGIA LA English DT Article DE Autism Spectrum Disorders; Emotions; Voice; Pragmatics; Theory of Mind ID HIGH-FUNCTIONING AUTISM; COMPLEX EMOTION RECOGNITION; ASPERGER-SYNDROME; SPECTRUM DISORDERS; METALINGUISTIC NEGATION; FACIAL EXPRESSIONS; NORMAL ADULTS; DEVELOPING-CHILDREN; TASK-PERFORMANCE; YOUNG-CHILDREN AB The human voice conveys a variety of information about people's feelings, emotions and mental states. Some of this information relies on sophisticated Theory of Mind (ToM) skills, whilst others are simpler and do not require ToM. This variety provides an interesting test case for the ToM account of autism, which would predict greater impairment as ToM requirements increase. In this paper, we draw on psychological and pragmatic theories to classify vocal cues according to the amount of mindreading required to identify them. 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TI The Neural Bases for Empathy SO NEUROSCIENTIST LA English DT Article DE empathy; theory of mind; emotion; ventromedial prefrontal; inferior frontal gyrus; mirror neurons ID SOCIAL COGNITION; EMOTIONAL EMPATHY; MIND; BRAIN; PAIN; SYSTEMS; MIRROR; DISSOCIATION; METAANALYSIS; AUTISM AB Human empathy relies on the ability to share emotions as well as the ability to understand the other's thoughts, desires, and feelings. Recent evidence points to 2 separate systems for empathy: an emotional system that supports our ability to empathize emotionally and a cognitive system that involves cognitive understanding of the other's perspective. Converging evidence from neuroimaging and lesion studies shows that a neural network that includes the inferior frontal gyrus and the inferior parietal lobule is necessary for emotion recognition and emotional contagion. 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Psychotherapy and pharmacotherapy are effective in improving clinical impairments from anxiety disorders and maintaining these improvements. This article discusses how to obtain a suitable diagnosis for anxiety disorders in youth for implementing appropriate treatments, focusing on the evidence base for pharmacologic treatment. Clinical guidelines are discussed, including Food and Drug Administration indications and off-label use of medications, and considerations for special populations and youth with comorbidities are highlighted. Findings suggest moderate effectiveness of medication, particularly selective serotonin reuptake inhibitors, in the treatment of anxiety disorders in youth. C1 [Kodish, Ian; Rockhill, Carol; Varley, Chris] Univ Washington, Sch Med, Seattle Childrens Hosp, Dept Psychiat & Behav Sci, Seattle, WA 98105 USA. [Ryan, Sheryl] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06510 USA. 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Clin. N. Am. PD FEB PY 2011 VL 58 IS 1 BP 55 EP + DI 10.1016/j.pcl.2010.10.002 PG 19 WC Pediatrics SC Pediatrics GA 734OO UT WOS:000288344400006 PM 21281848 ER PT J AU Nazeer, A AF Nazeer, Ahsan TI Psychopharmacology of Autistic Spectrum Disorders in Children and Adolescents SO PEDIATRIC CLINICS OF NORTH AMERICA LA English DT Article DE Autism; Psychopharmacology; Stereotypes; Aggression; Compulsion; Ritualistic behavior; Anxiety ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT HYPERACTIVITY DISORDER; DOUBLE-BLIND; REPETITIVE BEHAVIORS; PRESCHOOL-CHILDREN; CONDUCT DISORDER; CROSSOVER TRIAL; PLACEBO; RISPERIDONE; SYMPTOMS AB This article provides an overview of the psychopharmacologic management of irritability, hyperactivity, and repetitive behaviors in children and adolescents with autism spectrum disorder. A review of the current literature on medications used to treat these conditions with emphasis on randomized controlled trials is presented. C1 Michigan State Univ, Coll Human Med, Kalamazoo Ctr Med Studies, Dept Psychiat, Kalamazoo, MI 49048 USA. RP Nazeer, A (reprint author), Michigan State Univ, Coll Human Med, Kalamazoo Ctr Med Studies, Dept Psychiat, 1722 Shaffer St,Suite 3, Kalamazoo, MI 49048 USA. 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Clin. N. Am. PD FEB PY 2011 VL 58 IS 1 BP 189 EP + DI 10.1016/j.pcl.2010.10.003 PG 16 WC Pediatrics SC Pediatrics GA 734OO UT WOS:000288344400014 PM 21281856 ER PT J AU Barnard-Brak, L Sulak, T Hatz, JKI AF Barnard-Brak, Lucy Sulak, Tracey Hatz, Julie K. Ivey TI Macrocephaly in Children With Autism Spectrum Disorders SO PEDIATRIC NEUROLOGY LA English DT Article ID HEAD CIRCUMFERENCE; 1ST YEAR; LIFE; GROWTH AB Research indicates the presence of macrocephaly or abnormally large head circumferences in children with autism and spectrum-related disorders, compared with their typically developing peers. Previous research, however, centered on non-nationally representative, clinic-based samples of children and adults with autism spectrum disorders. Moreover, these samples were typically small. The present study represents results of a nationally representative, community-based sample of children with and without autism spectrum disorders, derived from the Early Childhood Longitudinal Study Birth Cohort. Results reveal statistically nonsignificant differences in the head circumferences of children with autism spectrum disorders across three time points, compared with children without autism spectrum disorders. These results may be considered highly generalizable, because they are derived from a nationally representative, community-based sample of children with and without autism spectrum disorders from the Early Childhood Longitudinal Study Birth Cohort. (C) 2011 Elsevier Inc. All rights reserved. C1 [Barnard-Brak, Lucy; Sulak, Tracey; Hatz, Julie K. Ivey] Baylor Univ, Dept Educ Psychol, Waco, TX 76798 USA. RP Barnard-Brak, L (reprint author), Baylor Univ, Dept Educ Psychol, 1 Bear Pl,97301, Waco, TX 76798 USA. EM lucy_barnard-brak@baylor.edu CR Andreassen C., 2007, 2007084 NCES Baird G, 2003, BRIT MED J, V327, P488, DOI 10.1136/bmj.327.7413.488 BERKSON J, 1946, BIOMETRICS BULL, V2, P47, DOI 10.2307/3002000 Brassard MR, 2008, PRESCHOOL ASSESSMENT Courchesne E, 2003, JAMA-J AM MED ASSOC, V290, P337, DOI 10.1001/jama.290.3.337 Dawson G, 2007, BIOL PSYCHIAT, V61, P458, DOI 10.1016/j.biopsych.2006.07.016 Deutsch CK, 2003, J AUTISM DEV DISORD, V33, P209, DOI 10.1023/A:1022903913547 Dissanayake C, 2006, DEV PSYCHOPATHOL, V18, P381, DOI 10.1017/S0954579406060202 Dunn L. M., 1997, PEABODY PICTURE VOCA, V3rd Fidler DJ, 2000, DEV MED CHILD NEUROL, V42, P737, DOI 10.1017/S0012162200001365 Fukumoto A, 2008, J AUTISM DEV DISORD, V38, P411, DOI 10.1007/s10803-007-0405-1 Gillberg C, 2002, DEV MED CHILD NEUROL, V44, P296 Graziano A. 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PD FEB PY 2011 VL 44 IS 2 BP 97 EP 100 DI 10.1016/j.pediatrneurol.2010.09.011 PG 4 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 711BX UT WOS:000286561800003 PM 21215908 ER PT J AU Cheslack-Postava, K Liu, K Bearman, PS AF Cheslack-Postava, Keely Liu, Kayuet Bearman, Peter S. TI Closely Spaced Pregnancies Are Associated With Increased Odds of Autism in California Sibling Births SO PEDIATRICS LA English DT Article DE autism; IPI; birth intervals; siblings; California ID SHORT INTERPREGNANCY INTERVALS; SPECTRUM DISORDERS; ERYTHROCYTE FOLATE; OUTCOMES; RISK; POPULATION; WOMEN; POSTPARTUM; DEPLETION; CHILDREN AB OBJECTIVE: To determine whether the interpregnancy interval (IPI) is associated with the risk of autism in subsequent births. METHODS: Pairs of first- and second-born singleton full siblings were identified from all California births that occurred from 1992 to 2002 using birth records, and autism diagnoses were identified by using linked records of the California Department of Developmental Services. IPI was calculated as the time interval between birth dates minus the gestational age of the second sibling. In the primary analysis, logistic regression models were used to determine whether odds of autism in second-born children varied according to IPI. To address potential confounding by unmeasured family-level factors, a case-sibling control analysis determined whether affected sibling (first versus second) varied with IPI. RESULTS: An inverse association between IPI and odds of autism among 662 730 second-born children was observed. In particular, IPIs of <12, 12 to 23, and 24 to 35 months were associated with odds ratios (95% confidence intervals) for autism of 3.39 (3.00-3.82), 1.86 (1.65-2.10), and 1.26 (1.10-1.45) relative to IPIs of >= 36 months. The association was not mediated by preterm birth or low birth weight and persisted across categories of sociodemographic characteristics, with some attenuation in the oldest and youngest parents. Second-born children were at increased risk of autism relative to their firstborn siblings only in pairs with short IPIs. CONCLUSIONS: These results suggest that children born after shorter intervals between pregnancies are at increased risk of developing autism; the highest risk was associated with pregnancies spaced <1 year apart. Pediatrics 2011;127:246-253 C1 [Cheslack-Postava, Keely] Columbia Univ, Robert Wood Johnson Fdn Hlth & Soc Scholars, New York, NY USA. [Liu, Kayuet; Bearman, Peter S.] Columbia Univ, Paul F Lazarsfeld Ctr Social Sci, New York, NY USA. RP Cheslack-Postava, K (reprint author), 420 W 118th St,Mail Code 3355, New York, NY 10027 USA. EM kc2497@columbia.edu FU Robert Wood Johnson Foundation; National Institutes of Health [1 DP1 OD003635-01]; California Department of Developmental Services FX Financial support was provided by the Robert Wood Johnson Foundation Health and Society Scholars Program and the National Institutes of Health Director's Pioneer Award Program, part of the NIH Roadmap for Medical Research ( grant 1 DP1 OD003635-01).We thank Christine Fountain, Kerry Keyes, Marissa King, Soumya Mazumdar, and Ezra Susser for helpful comments on earlier versions of this article and the California Department of Developmental Services for support of the study. CR Abu-Saad K, 2010, EPIDEMIOL REV, V32, P5, DOI 10.1093/epirev/mxq001 Bilder D, 2009, PEDIATRICS, V123, P1293, DOI 10.1542/peds.2008-0927 *CDCP, NAT CTR HLTH STAT DA Chawarska K, 2007, J AUTISM DEV DISORD, V37, P62, DOI 10.1007/s10803-006-0330-8 Conde-Agudelo A, 2006, JAMA-J AM MED ASSOC, V295, P1809, DOI 10.1001/jama.295.15.1809 Conde-Agudelo A, 2000, BRIT MED J, V321, P1255, DOI 10.1136/bmj.321.7271.1255 Croen LA, 2002, J AUTISM DEV DISORD, V32, P217, DOI 10.1023/A:1015405914950 Croen LA, 2002, J AUTISM DEV DISORD, V32, P207, DOI 10.1023/A:1015453830880 De Giacomo A, 1998, EUR CHILD ADOLES PSY, V7, P131 Greenland S, 2008, MODERN EPIDEMIOLOGY, P258 Grether JK, 2009, AM J EPIDEMIOL, V170, P1118, DOI 10.1093/aje/kwp247 Grether JK, 2009, J AUTISM DEV DISORD, V39, P1412, DOI 10.1007/s10803-009-0754-z Kaharuza FM, 2001, ACTA OBSTET GYN SCAN, V80, P532, DOI 10.1034/j.1600-0412.2001.080006532.x King JC, 2003, J NUTR, V133, p1429S Klerman LV, 1998, AM J PUBLIC HEALTH, V88, P1182, DOI 10.2105/AJPH.88.8.1182 Kolevzon A, 2007, ARCH PEDIAT ADOL MED, V161, P326, DOI 10.1001/archpedi.161.4.326 Liu KY, 2010, AM J SOCIOL, V115, P1387 London Eric, 2000, Environmental Health Perspectives, V108, P401, DOI 10.2307/3454527 Mikolajczyk RT, 2008, AM J EPIDEMIOL, V168, P422, DOI 10.1093/aje/kwn115 Milman N, 2006, EUR J HAEMATOL, V76, P200, DOI 10.1111/j.1600-0609.2005.00606.x Nabukera SK, 2009, ARCH GYNECOL OBSTET, V279, P677, DOI 10.1007/s00404-008-0793-2 O'Rourke KM, 2000, J WOMEN HEALTH GEN-B, V9, P397, DOI 10.1089/15246090050020718 Roberts EM, 2007, ENVIRON HEALTH PERSP, V115, P1482, DOI 10.1289/ehp.10168 Siperstein R, 2004, J AUTISM DEV DISORD, V34, P731, DOI 10.1007/s10803-004-5294-y Smits L, 2004, SCHIZOPHR RES, V70, P49, DOI 10.1016/j.schres.2003.10.002 Smits LJM, 2001, LANCET, V358, P2074, DOI 10.1016/S0140-6736(01)07105-7 van Eijsden M, 2008, AM J CLIN NUTR, V88, P147 Windham GC, 2006, ENVIRON HEALTH PERSP, V114, P1438, DOI 10.1289/ehp.9120 Zhu BP, 2005, INT J GYNECOL OBSTET, V89, pS25, DOI 10.1016/j.ijgo.2004.08.002 NR 29 TC 38 Z9 38 PU AMER ACAD PEDIATRICS PI ELK GROVE VILLAGE PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA SN 0031-4005 EI 1098-4275 J9 PEDIATRICS JI Pediatrics PD FEB PY 2011 VL 127 IS 2 BP 246 EP 253 DI 10.1542/peds.2010-2371 PG 8 WC Pediatrics SC Pediatrics GA 714JF UT WOS:000286805200040 PM 21220394 ER PT J AU Morag, A Pasmanik-Chor, M Oron-Karni, V Rehavi, M Stingl, JC Gurwitz, D AF Morag, Ayelet Pasmanik-Chor, Metsada Oron-Karni, Varda Rehavi, Moshe Stingl, Julia C. Gurwitz, David TI Genome-wide expression profiling of human lymphoblastoid cell lines identifies CHL1 as a putative SSRI antidepressant response biomarker SO PHARMACOGENOMICS LA English DT Article DE antidepressants; biomarkers; ARRB1; CCL5; CHL1; DDX60; DDX60L; ENDOD1; ENPP2; FLT1; GABRA4; GAP43; genome-wide expression profiling; human lymphoblastoid cell lines; major depression; MCTP2; paroxetine; real-time; PCR; selective serotonin; reuptake inhibitors; SPRY2; SSRIs; XTT cell; proliferation; assay; PCR ID SEROTONIN REUPTAKE INHIBITORS; MAJOR DEPRESSIVE DISORDER; ETOPOSIDE-INDUCED CYTOTOXICITY; GENE-EXPRESSION; CLOSE HOMOLOG; ARABINOSIDE CYTOTOXICITY; MICE DEFICIENT; PROTEIN FAMILY; MESSENGER-RNA; DRUG RESPONSE AB Aims: Selective serotonin reuptake inhibitors (SSRIs) are the most commonly used class of antidepressants for treating major depression. However, approximately 30% of patients do not respond sufficiently to first-line antidepressant drug treatment and require alternative therapeutics. Genome-wide studies searching for SSRI response DNA biomarkers or studies of candidate serotonin-related genes so far have given inconclusive or contradictory results. Here, we present an alternative transcriptome-based genome-wide approach for searching antidepressant drug-response biomarkers by using drug-effect phenotypes in human lymphoblastoid cell lines (LCLs). Materials & methods: We screened 80 LCLs from healthy adult female individuals for growth inhibition by paroxetine. A total of 14 LCLs with reproducible high and low sensitivities to paroxetine (seven from each phenotypic group) were chosen for genome-wide expression profiling with commercial microarrays. Results: The most notable genome-wide transcriptome difference between LCLs displaying high versus low paroxetine sensitivities was a 6.3-fold lower (p = 0.0000256) basal expression of CHL1, a gene coding for a neuronal cell adhesion protein implicated in correct thalamocortical circuitry, schizophrenia and autism. The microarray findings were confirmed by real-time PCR (36-fold lower CHL1 expression levels in the high paroxetine sensitivity group). Several additional genes implicated in synaptogenesis or in psychiatric disorders, including ARRB1, CCL5, DDX60, DDX60L, ENDOD1, ENPP2, FLT1, GABRA4, GAP43, MCTP2 and SPRY2, also differed by more than 1.5-fold and a p-value of less than 0.005 between the two paroxetine sensitivity groups, as confirmed by real-time PCR experiments. Conclusion: Genome-wide transcriptional profiling of in vitro phenotyped LCLs identified CHL1 and additional genes implicated in synaptogenesis and brain circuitry as putative SSRI response biomarkers. This method might be used as a preliminary tool for searching for potential depression treatment biomarkers. C1 [Morag, Ayelet; Gurwitz, David] Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel. [Pasmanik-Chor, Metsada; Oron-Karni, Varda] Tel Aviv Univ, George S Wise Fac Life Sci, Bioinformat Unit, Tel Aviv, Israel. [Rehavi, Moshe] Tel Aviv Univ, Sackler Fac Med, Dept Physiol & Pharmacol, Tel Aviv, Israel. [Stingl, Julia C.] Univ Ulm, Inst Pharmacol Nat Prod & Clin Pharmacol, D-89069 Ulm, Germany. RP Gurwitz, D (reprint author), Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel. EM gurwitz@post.tau.ac.il RI Gurwitz, David/E-7642-2013; Stingl, Julia/H-2410-2013 OI Gurwitz, David/0000-0002-9363-1869; FU NLGIP biobank at Tel Aviv University, Israel FX The authors thank the anonymous donors of the NLGIP biobank at Tel Aviv University, Israel, whose altruism and trust in biomedical research have made this study possible. The authors thank Shimon Efrnt and Michael Korostishevsky (Tel-Aviv University, Israel) for insightful discussions and Zeev Melamed (Tel-Aviv University, Israel) for help with the design of the real-time PCR experiments. 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FINCHLEY CENTRAL, LONDON, N3 1QB, ENGLAND SN 1462-2416 J9 PHARMACOGENOMICS JI Pharmacogenomics PD FEB PY 2011 VL 12 IS 2 BP 171 EP 184 DI 10.2217/PGS.10.185 PG 14 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 741RE UT WOS:000288881000010 PM 21332311 ER PT J AU Xiao, Y Zhang, J Wang, Y Wang, P Li, XW Ji, J Yang, FP Feng, GY He, L He, G AF Xiao, Yue Zhang, Jing Wang, Yang Wang, Peng Li, Xingwang Ji, Jue Yang, Fengping Feng, Guoyin He, Lin He, Guang TI Limited association between Disrupted in Schizophrenia 1 (DISC1) gene and bipolar disorder in the Chinese population SO PSYCHIATRIC GENETICS LA English DT Article DE association; bipolar disorder; case-control analysis; DISC1; Han Chinese population ID SUSCEPTIBILITY LOCUS; GENOME SCAN; SCHIZOAFFECTIVE DISORDER; CHROMOSOME 1Q42; DISRUPTED-IN-SCHIZOPHRENIA-1; TRANSLOCATION; LINKAGE; MICE; PHENOTYPES; PEDIGREES AB Objective Bipolar disorder is a common, severe, and recurrent psychiatric disorder. The Disrupted in Schizophrenia 1 (DISC1) gene has been associated with the risk of schizophrenia, schizoaffective disorder, bipolar disorder, major depression, autism, and Asperger syndrome in different populations. Here, we report the first association study for the DISC1 with bipolar disorder in Chinese cohorts. Methods We conducted a case-control study and genotyped 12 single nucleotide polymorphisms in 506 bipolar patients and 507 controls recruited from Anhui province in China. The genotyping procedure was carried on the ABI 7900 DNA detection platform by using TaqMan probe technology. Result Although the data did not show association between any individual single nucleotide polymorphism in the DISC1 gene and bipolar disorder, a haplotype [rs2738864 (C)-rs16841582 (C)] was found to be associated with the disorder (P = 0.0191). Conclusion This finding provides evidence supporting the role of DISC1 gene in bipolar disorder, and shows the presence of population heterogeneity. Psychiatr Genet 21:42-46 (C) 2011 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins. C1 [Li, Xingwang; He, Lin] Fudan Univ, Inst Biomed Sci, Shanghai 200032, Peoples R China. [Xiao, Yue; Zhang, Jing; Wang, Yang; Li, Xingwang; Ji, Jue; Yang, Fengping; He, Guang] Shanghai Jiao Tong Univ, Biox Ctr, Shanghai 200030, Peoples R China. [He, Lin] Shanghai Jiao Tong Univ, Biox Life Sci Ctr, Shanghai 200030, Peoples R China. [Xiao, Yue; Zhang, Jing; Wang, Yang; Li, Xingwang; Ji, Jue; Yang, Fengping; He, Lin; He, Guang] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Nutr Sci, Shanghai, Peoples R China. [Feng, Guoyin] Shanghai Inst Mental Hlth, Shanghai, Peoples R China. [Wang, Peng] Wuhu 4 Peoples Hosp, Wuhu, Peoples R China. RP He, L (reprint author), Fudan Univ, Inst Biomed Sci, 138 Yixueyuan Rd, Shanghai 200032, Peoples R China. EM helinhelin@gmail.com; heguang@sjtu.edu.cn FU National S973 program; National Key Technology RD Program [2006BAI05A05]; National Natural Science Foundation of China; Shanghai Rising-Star Program; Shanghai Leading Academic Discipline Project [B205]; National 863 program FX The authors are grateful to all bipolar disorder patients and healthy people who participated in the study, and the psychiatrists and mental health workers for their help in the recruitment of the patients. They also thank Drs Lun Yang, Kejian Wang, and Yongyong Shi for providing valuable discussions. This work was supported by Grants from the National S973 and 863 programs, the National Key Technology R&D Program 2006BAI05A05, the National Natural Science Foundation of China, the Shanghai Rising-Star Program, and the Shanghai Leading Academic Discipline Project (B205). 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Cardy, Shannon TI Listener vs. speaker-oriented aspects of speech: Studying the disfluencies of individuals with autism spectrum disorders SO PSYCHONOMIC BULLETIN & REVIEW LA English DT Article DE Autism; Pragmatics; Disfluencies; Language production; Conversation ID ASPERGER-SYNDROME; CHILDREN; IMPAIRMENT; UM; UH; PAUSES AB This study investigates the role of disfluencies such as "um" or "uh" in conversation to discern whether these features of speech serve listener- or speaker-oriented functions by looking at their occurrence (or lack of occurrence) in the speech of participants with autism. Since the characteristic egocentricity of individuals with autism means they should engage in minimal listener-oriented behavior, they are a useful group to differentiate these functions. Transcription, analysis and categorization of 26 spontaneous language samples were derived from age-matched native English-speaking controls and high-functioning individuals with Autism Spectrum Disorders (ASDs). Results showed that individuals with ASD produced fewer filled-pause words (ums and uhs) and revisions than controls, but more silent pauses and disfluent repetitions. Filled-pause words therefore appear to be listener-oriented features of speech. C1 [Lake, Johanna K.; Humphreys, Karin R.; Cardy, Shannon] McMaster Univ, Dept Psychol Neurosci & Behav, Hamilton, ON L8S 4K1, Canada. RP Humphreys, KR (reprint author), McMaster Univ, Dept Psychol Neurosci & Behav, 1280 Main St W, Hamilton, ON L8S 4K1, Canada. 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TI Induction of Autoimmunity to Brain Antigens by Developmental Mercury Exposure SO TOXICOLOGICAL SCIENCES LA English DT Article DE autoimmunity; brain antigens; mercury ID IMMUNE-COMPLEX DEPOSITS; PRENATAL METHYLMERCURY EXPOSURE; METHYL MERCURY; OXIDATIVE STRESS; MURINE SUSCEPTIBILITY; AUTOANTIBODY PROFILES; ALZHEIMERS-DISEASE; NULL MICE; LONG-TERM; AUTISM AB A.SW mice, which are known to be prone to mercury (Hg)-induced immune nephritis, were assessed for their ability to develop autoimmunity to brain antigens after developmental exposure to Hg. Maternal drinking water containing subclinical doses of 1.25 mu M methyl Hg (MeHg) or 50 mu M Hg chloride (HgCl(2)) were used to evaluate developmental (exposure from gestational day 8 to postnatal day 21) induction of immune responses to brain antigens. Only HgCl(2) induced autoantibody production; the HgCl(2)-exposed offspring showed an increased number of CD4(+) splenic T cells expressing CD25 and V(beta) 8.3 chains, and the brain-reactive immunoglobulin G (IgG) antibodies were predominantly against nuclear proteins (30 and 34 kD). The antibodies were deposited in all brain regions. Although male and female A.SW mice exposed to HgCl(2) showed deposition of IgG in multiple brain regions, inflammation responses were observed only in the cerebellum (CB) of female A.SW mice; these responses were associated with increased levels of exploratory behavior. The developmental exposure to MeHg also induced inflammation in the CB and increased exploratory behavior of the female A.SW mice, but the change did not correlate with increased IgG in the brain. Interestingly, the non-Hg-exposed female A.SW mice habituated (adapted to the information and/or stimuli of a new environment) more than the male A.SW mice during exploratory behavior assessment, and the Hg exposure eliminated the habituation (i.e., no changes in behavior with subsequent trials), making the female behaviors more like those of the male A.SW mice. Additionally, gender differences in A.SW brain cytokine expressions prior to Hg exposure were eliminated by the Hg exposure. C1 [Lawrence, David A.] Wadsworth Ctr, Immunol Lab, New York Dept Hlth, Albany, NY 12201 USA. SUNY Albany, Sch Publ Hlth, Albany, NY 12201 USA. RP Lawrence, DA (reprint author), Wadsworth Ctr, Immunol Lab, New York Dept Hlth, Albany, NY 12201 USA. EM lawrencd@wadsworth.org FU National Institutes of Environmental Health Sciences [R01 ES011135, R21 ES013857] FX National Institutes of Environmental Health Sciences grants R01 ES011135 and R21 ES013857. 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Med PD FEB PY 2011 VL 17 IS 2 BP 78 EP 87 DI 10.1016/j.molmed.2010.10.002 PG 10 WC Biochemistry & Molecular Biology; Cell Biology; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Cell Biology; Research & Experimental Medicine GA 734OB UT WOS:000288342300003 PM 21115397 ER PT J AU Guffanti, G Lievers, LS Bonati, MT Marchi, M Geronazzo, L Nardocci, N Estienne, M Larizza, L Macciardi, F Russo, S AF Guffanti, Guia Lievers, Luisa Strik Bonati, Maria Teresa Marchi, Margherita Geronazzo, Lupo Nardocci, Nardo Estienne, Margherita Larizza, Lidia Macciardi, Fabio Russo, Silvia TI Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A SO PSYCHIATRY RESEARCH LA English DT Article DE ATP10A; Endophenotypes; Parent of origin effect ID MATERNAL EXPRESSION DOMAIN; PRADER-WILLI-SYNDROME; LINKAGE-DISEQUILIBRIUM; CHROMOSOME 15Q11-Q13; ANGELMAN-SYNDROME; TRANSMISSION DISEQUILIBRIUM; DIAGNOSTIC INTERVIEW; SPECTRUM DISORDERS; IMPRINTING CENTER; UNIFIED APPROACH AB The aetiology of autism is still largely unknown despite analyses from family and twin studies demonstrating substantial genetic role in the aetiology of the disorder. Data from linkage studies and analyses of chromosomal abnormalities identified 15q11-q13 as a region of particular aetiopathogenesis interest. We screened a set of markers spanning two known imprinted, maternally expressed genes, UBE3A and ATP10A. harboured in this candidate region. We replicated evidence of linkage disequilibrium (LD) at marker D15S122, located at the 5' end of UBE3A and originally reported by Nurmi et al. (2001). The potential role of UBE3A in our family-based association study is further supported by the association of two haplotypes that include one of the alleles of D15S122 and by the transmission disequilibrium test (TDT) evidence of the same allele in a parent of origin effect analysis. In a secondary analysis, we provided the first evidence of a significant association between first word delay and psychomotor regression with the 15q11-q13 region. Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism. (C) 2010 Elsevier Ireland Ltd. All rights reserved. C1 [Macciardi, Fabio] Univ Milan, Dept Sci Biomed Technol, I-20090 Milan, Italy. [Bonati, Maria Teresa; Marchi, Margherita; Larizza, Lidia; Russo, Silvia] IRCCS Ist Auxol Italian, Milan, Italy. [Nardocci, Nardo; Estienne, Margherita] Ist Neurol Carlo Besta, Milan, Italy. [Macciardi, Fabio] Univ Calif Irvine, Irvine, CA USA. RP Macciardi, F (reprint author), Univ Milan, Dept Sci Biomed Technol, Via Flli Cervi 93, I-20090 Milan, Italy. EM fabio.macciardi@unimi.it FU Ministry of Health [ICS 030.11-RF225 (NEMEC)] FX This study was partially supported by the Ministry of Health, grant number: ICS 030.11-RF225 (NEMEC) to Istituto Auxologico Italiano (LL). 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Within the literature there is some debate as to whether it is valid to diagnose AD/HD with autism as a comorbid disorder, since the present diagnostic systems exclude the diagnosis of both disorders in the same child. The aim of this study was to determine whether electroencephalography (EEG) differences exist between two groups of children diagnosed with AD/HD, one scoring high (AD/HD+) and one scoring low (AD/H-) on a measure of autism. The EEG was recorded during an eyes-closed resting condition from 19 electrodes, and Fourier transformed to provide absolute and relative power estimates in delta, theta, alpha and beta bands. Compared to age- and sex-matched controls, the AD/HD group had increased absolute power in all frequency bands, somewhat higher relative theta activity and decreased relative delta. In comparison to the AD/HD group, patients with autistic features (AD/HD+) had a number of qualitative differences in the beta and theta bands. These results indicate the presence of two comorbid conditions in the AD/HD+ group, which suggests that AD/HD and autism can occur in the same individual. (C) 2009 Elsevier Ireland Ltd. All rights reserved. C1 [Clarke, Adam R.; Barry, Robert J.; Irving, Andrew M.] Univ Wollongong, Brain & Behav Res Inst, Wollongong, NSW 2522, Australia. [Clarke, Adam R.; Barry, Robert J.; Irving, Andrew M.] Univ Wollongong, Sch Psychol, Wollongong, NSW 2522, Australia. [McCarthy, Rory; Selikowitz, Mark] Sydney Dev Clin, Sydney, NSW 2000, Australia. RP Clarke, AR (reprint author), Univ Wollongong, Brain & Behav Res Inst, Wollongong, NSW 2522, Australia. EM adam_clarke@uow.edu.au FU Australian Research Council [DP0558989] FX This research was supported under the Australian Research Council's Discovery funding scheme (project number DP0558989). 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Outpatients referred for psychiatric evaluations of childhood-onset neuropsychiatric disorders (n = 178) and perpetrators of violent crimes referred to pre-trial forensic psychiatric investigations (n = 92) had comprehensive, instrument-based, psychiatric assessments, including the Life History of Aggression (LHA) scales. Total and subscale LHA scores were compared to the categorical and dimensional diagnoses of childhood and adult DSM-IV axis I and II mental disorders, general intelligence (IQ), Global Assessment of Functioning (GAF), and personality traits according to the Temperament and Character Inventory (TCI). Overall, the two groups had similar LHA scores, but the offender group scored higher on the Antisocial subscale. Higher total LHA scores were independently associated with the hyperactivity facet of attention-deficit/hyperactivity disorder (AD/HD), childhood conduct disorder, substance-related disorders, and low scores on the Cooperativeness character dimension according to the TCI. IQ and GAF-scores were negatively correlated with the LHA subscale Self-directed aggression. Autistic traits were inversely correlated with aggression among outpatients, while the opposite pattern was noted in the forensic group. The findings call for assessments of aggression-related behaviours in all psychiatric settings. (C) 2010 Elsevier Ireland Ltd. All rights reserved. C1 [Hofvander, Bjorn; Stahlberg, Ola; Rastam, Maria; Anckarsater, Henrik] Lund Univ, Dept Clin Sci, S-22100 Lund, Sweden. [Stahlberg, Ola; Nyden, Agneta; Wentz, Elisabet; degl'Innocenti, Alessio; Billstedt, Eva; Forsman, Anders; Gillberg, Christopher; Nilsson, Thomas; Rastam, Maria; Anckarsater, Henrik] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Gothenburg, Sweden. [Wentz, Elisabet] Swedish Inst Hlth Sci, Vardal Inst, Kista, Sweden. RP Hofvander, B (reprint author), Div Forens Psychiat, Sege Pk B8A, S-20502 Malmo, Sweden. EM bjorn.hofvander@med.lu.se FU Region Skane; Swedish Research Council (VR); National Board of Forensic Medicine; Stiftelsen Lindhaga; Stiftelsen Professor Bror Gadelius Minnesfond FX The study was supported by grants from the Region Skane, the Swedish Research Council (VR), the National Board of Forensic Medicine, Stiftelsen Lindhaga, and Stiftelsen Professor Bror Gadelius Minnesfond. 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Immunocytochemical and electrophysiological studies have shown that specific binding across the synaptic cleft of the ectodomains of presynaptic NRXNs and postsynaptic neuroligins have the potential to bi-directionally coordinate and trigger synapse formation. Moreover, in vivo studies as well as genome-wide association studies pointed out implication of NRXNs in the pathogenesis of cognitive disorders including autism spectrum disorders and different types of addictions including opioid and alcohol dependences, suggesting an important role in synaptic function. Despite extensive investigations, the mechanisms by which NRXNs modulate the properties of synapses remain largely unknown. 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EM patrick.fraering@epfl.ch FU Swiss National Foundation [310000-116652/1]; National Center for Competence in Research; Strauss foundation FX This work was supported by Swiss National Foundation Grant 310000-116652/1 (to P. C. F. and L. Aeschbach) and the National Center for Competence in Research ("Neuronal Plasticity and Repair" (to P. C. F.)) and the Strauss foundation (to P. C. F. and C. S.). 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However, despite an extensive literature, the very existence of sex differences remains a matter of discussion while some studies found no sex differences whereas others reported differences that were either congruent or not with gender stereotypes. Moreover, the magnitude, consistency and stability across time of the differences remain an open question, especially during childhood. As play provides an excellent window into children's social development, we investigated whether and how sex differences change in social play across early childhood. Following a cross-sectional design, 164 children aged from 2 to 6 years old, divided into four age groups, were observed during outdoor free play at nursery school. We showed that sex differences are not stable over time evidencing a developmental gap between girls and boys. Social and structured forms of play emerge systematically earlier in girls than in boys leading to subsequent sex differences in favor of girls at some ages, successively in associative play at 3-4 years, cooperative play at 4-5 years, and social interactions with peers at 5-6 years. Preschool boys also display more solitary play than preschool girls, especially when young. Nevertheless, while boys catch up and girls move on towards more complex play, sex differences in social play patterns are reversed in favor of boys at the following ages, such as in associative play at 4-5 years and cooperative play at 5-6 years. This developmental perspective contributes to resolve apparent discrepancies between single-snapshot studies. A better understanding of the dynamics of sex differences in typical social development should also provide insights into atypical social developments which exhibit sex differences in prevalence, such as autism. C1 [Barbu, Stephanie; Cabanes, Guenael] Univ Rennes 1, Lab EthoS Ethol Anim & Humaine, CNRS, UMR 6552, Rennes, France. [Le Maner-Idrissi, Gaid] Univ Rennes 2, Ctr Rech Psychol Cognit & Commun, Lab Psychol Dev & Educ, F-35043 Rennes, France. RP Barbu, S (reprint author), Univ Rennes 1, Lab EthoS Ethol Anim & Humaine, CNRS, UMR 6552, Rennes, France. EM stephanie.barbu@univ-rennes1.fr RI Cabanes, Guenael/H-3109-2013 OI Cabanes, Guenael/0000-0002-8225-7242 FU French National Agency of Research; Young Researchers Program FX This research was funded by the French National Agency of Research with the Young Researchers Program. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Banerjee-Basu, Sharmila TI Animal model integration to AutDB, a genetic database for autism SO BMC MEDICAL GENOMICS LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM; ASSOCIATION; MUTATIONS; PHENOTYPE; CHILDREN; LINKAGE AB Background: In the post-genomic era, multi-faceted research on complex disorders such as autism has generated diverse types of molecular information related to its pathogenesis. The rapid accumulation of putative candidate genes/loci for Autism Spectrum Disorders (ASD) and ASD-related animal models poses a major challenge for systematic analysis of their content. We previously created the Autism Database (AutDB) to provide a publicly available web portal for ongoing collection, manual annotation, and visualization of genes linked to ASD. Here, we describe the design, development, and integration of a new module within AutDB for ongoing collection and comprehensive cataloguing of ASD-related animal models. Description: As with the original AutDB, all data is extracted from published, peer-reviewed scientific literature. Animal models are annotated with a new standardized vocabulary of phenotypic terms developed by our researchers which is designed to reflect the diverse clinical manifestations of ASD. The new Animal Model module is seamlessly integrated to AutDB for dissemination of diverse information related to ASD. Animal model entries within the new module are linked to corresponding candidate genes in the original "Human Gene" module of the resource, thereby allowing for cross-modal navigation between gene models and human gene studies. Although the current release of the Animal Model module is restricted to mouse models, it was designed with an expandable framework which can easily incorporate additional species and non-genetic etiological models of autism in the future. Conclusions: Importantly, this modular ASD database provides a platform from which data mining, bioinformatics, and/or computational biology strategies may be adopted to develop predictive disease models that may offer further insights into the molecular underpinnings of this disorder. It also serves as a general model for disease-driven databases curating phenotypic characteristics of corresponding animal models. C1 [Kumar, Ajay; Wadhawan, Rachna; Swanwick, Catherine Croft; Kollu, Ravi; Basu, Saumyendra N.; Banerjee-Basu, Sharmila] MindSpec, Mclean, VA 22102 USA. RP Banerjee-Basu, S (reprint author), MindSpec, 8280 Greensboro Dr,Suite 150, Mclean, VA 22102 USA. EM sharmila@mindspec.org FU Simons Foundation FX AutDB is funded by the Simons Foundation, which licenses it as SFARI Gene http://gene.sfari.org/. We also thank Dr. Dario Dieguez for his thoughtful edits of this manuscript. 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TI NrCAM Deletion Causes Topographic Mistargeting of Thalamocortical Axons to the Visual Cortex and Disrupts Visual Acuity SO JOURNAL OF NEUROSCIENCE LA English DT Article ID CELL-ADHESION MOLECULE; NR-CAM; FUNCTIONAL CONNECTIVITY; NEURONAL MIGRATION; NERVOUS-SYSTEM; KNOCKOUT MICE; MUTANT MICE; EPHRIN-AS; IN-VIVO; AUTISM AB NrCAM is a neural cell adhesion molecule of the L1 family that has been linked to autism spectrum disorders, a disease spectrum in which abnormal thalamocortical connectivity may contribute to visual processing defects. Here we show that NrCAM interaction with neuropilin-2 (Npn-2) is critical for semaphorin 3F (Sema3F)-induced guidance of thalamocortical axon subpopulations at the ventral telencephalon (VTe), an intermediate target for thalamic axon sorting. Genetic deletion of NrCAM or Npn-2 caused contingents of embryonic thalamic axons to misproject caudally in the VTe. The resultant thalamocortical map of NrCAM-null mutants showed striking mistargeting of motor and somatosensory thalamic axon contingents to the primary visual cortex, but retinogeniculate targeting and segregation were normal. NrCAM formed a molecular complex with Npn-2 in brain and neural cells, and was required for Sema3F-induced growth cone collapse in thalamic neuron cultures, consistent with a vital function for NrCAM in Sema3F-induced axon repulsion. NrCAM-null mice displayed reduced responses to visual evoked potentials recorded from layer IV in the binocular zone of primary visual cortex (V1), particularly when evoked from the ipsilateral eye, indicating abnormal visual acuity and ocularity. These results demonstrate that NrCAM is required for normal maturation of cortical visual acuity, and suggest that the aberrant projection of thalamic motor and somatosensory axons to the visual cortex in NrCAM-null mutant mice impairs cortical functions. C1 [Demyanenko, Galina P.; Dalal, Jasbir; Darnell, Eli P.; Brennaman, Leann H.; Maness, Patricia F.] Univ N Carolina, Sch Med, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA. [Riday, Thorfinn T.; Philpot, Benjamin D.] Univ N Carolina, Sch Med, Dept Cell & Mol Physiol, Chapel Hill, NC 27599 USA. [Philpot, Benjamin D.; Maness, Patricia F.] Univ N Carolina, Sch Med, Ctr Neurosci, Chapel Hill, NC 27599 USA. [Tran, Tracy S.] Johns Hopkins Univ, Sch Med, Solomon H Synder Dept Neurosci, Baltimore, MD 21205 USA. [Sakurai, Takeshi] Mt Sinai Sch Med, Seaver Autism Ctr, Dept Psychiat, New York, NY 10029 USA. [Grumet, Martin] Rutgers State Univ, Nelson Lab, Dept Cell Biol & Neurosci, WM Keck Ctr Collaborat Neurosci, Piscataway, NJ 08854 USA. RP Maness, PF (reprint author), Univ N Carolina, Sch Med, Dept Biochem & Biophys, Campus Box 7260, Chapel Hill, NC 27599 USA. EM srclab@med.unc.edu FU Autism Speaks [1847]; Simons Foundation; National Science Foundation [0822969]; National Eye Institute [R01EY018323]; Seaver fellowship; National Institutes of Health [5P30NS045892] FX This work was supported by grants from Autism Speaks (#1847) (P.F.M.), by the Simons Foundation, National Science Foundation Grant 0822969, and National Eye Institute Grant R01EY018323 (B.D.P.), by a Seaver fellowship (T.S.), and by National Institutes of Health Grant 5P30NS045892 to the University of North Carolina at Chapel Hill Neuroscience Center for support of the Confocal Microscopy Facility. Rosa Mino and Alec Tidwell contributed to cell culture analysis. We thank Dr. David Ginty (Johns Hopkins University School of Medicine and Howard Hughes Medical Institute, Baltimore, MD) for reagents and advice. 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Cell Biol. PD JAN 24 PY 2011 VL 192 IS 2 BP 349 EP 363 DI 10.1083/jcb.201006109 PG 15 WC Cell Biology SC Cell Biology GA 727DW UT WOS:000287778800014 PM 21242290 ER PT J AU Levav-Rabkin, T Blumkin, E Galron, D Golan, HM AF Levav-Rabkin, Tamar Blumkin, Elinor Galron, Dalia Golan, Hava M. TI Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Recognition memory; Open-field; Exploration; Reflex development; Mthfr deficiency; Sex-dependent behavior ID METHYLENETETRAHYDROFOLATE REDUCTASE GENE; MATERNAL RISK-FACTORS; PLASMA HOMOCYSTEINE; OBJECT RECOGNITION; COMMON MUTATION; CHRONIC HYPERHOMOCYSTEINEMIA; FOLATE METABOLISM; DOWN-SYNDROME; SERUM-LEVELS; FOLIC-ACID AB The methylenetetrahydrofolate reductase (Mthfr) gene and/or abnormal homocysteine-folate metabolism are associated with increased risk for birth defects and neuropsychiatric diseases. In addition, disturbances of the GABAergic system in the brain as well as Mthfr polymorphism are associated with neurodevelopmental disorders such as schizophrenia and autism. In the present study we performed behavioral phenotyping of male and female Mthfr mice (wild type and their heterozygous littermates). The present study addresses two main questions: (1) genetic susceptibility, as examined by effects of Mthfr deficiency on behavior (Experiment 1) and (2) possible gene-drug interactions as expressed by behavioral phenotyping of Mthfr-deficient mice neonatally exposed to the GABA potentiating drug GVG (Experiment 2). Newborn development was slightly influenced by Mthfr genotype per se (Experiment 1); however the gene-drug interaction similarly affected reflex development in both male and female offspring (Experiment 2). Hyperactivity was demonstrated in Mthfr heterozygous male mice (Experiment 1) and due to GVG treatment in both Wt and Mthfr+/- male and female mice (Experiment 2). The gene-environment interaction did not affect anxiety-related behavior of male mice (Experiment 2). In female mice, gene-treatment interactions abolished the reduced anxiety observed due to GVG treatment and Mthfr genotype (Experiment 2). Finally, recognition memory of adult mice was impaired due to genotype, treatment and the gene-treatment combination in a sex-independent manner (Experiment 2). Overall, Mthfr deficiency and/or GABA potentiation differentially affect a spectrum of behaviors in male and female mice. This study is the first to describe behavioral phenotypes due to Mthfr genotype, GVG treatment and the interaction between these two factors. The behavioral outcomes suggest that Mthfr deficiency modulates the effects of GABA potentiating drugs. These findings suggest that future treatment strategies should consider a combination of genotyping with drug regimens. (C) 2010 Elsevier B.V. All rights reserved. C1 [Levav-Rabkin, Tamar; Blumkin, Elinor; Galron, Dalia; Golan, Hava M.] Ben Gurion Univ Negev, Dept Dev Mol Genet, Fac Hlth Sci, IL-84105 Beer Sheva, Israel. [Levav-Rabkin, Tamar; Blumkin, Elinor; Golan, Hava M.] Ben Gurion Univ Negev, Zlotowski Ctr Neurosci, IL-84105 Beer Sheva, Israel. RP Golan, HM (reprint author), Ben Gurion Univ Negev, Dept Dev Mol Genet, Fac Hlth Sci, IL-84105 Beer Sheva, Israel. EM havag@bgu.ac.il RI GOLAN, HAVA/F-2121-2012 FU Israel Ministry of Health [3_4030]; Israeli Ministry of Science, Culture and Sport FX This work was supported by Israel Ministry of Health (#3_4030). We thank the Israeli Ministry of Science, Culture and Sport for the Eshkol Fellowship to Mrs. Tamar Levav-Rabkin. Gratitude is also extended to Prof. Rima Rozen from McGill University, Canada for kindly providing the Mthfr knock-out mice and to Prof. Ora Kofman from the Faculty of Behavioral Sciences, Ben-Gurion University, Israel for critical review of an earlier draft of this manuscript. 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Brain Res. PD JAN 20 PY 2011 VL 216 IS 2 BP 505 EP 513 DI 10.1016/j.bbr.2010.08.031 PG 9 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 693IH UT WOS:000285217300003 PM 20813139 ER PT J AU Pagan, C Botros, HG Poirier, K Dumaine, A Jamain, S Moreno, S de Brouwer, A Van Esch, H Delorme, R Launay, JM Tzschach, A Kalscheuer, V Lacombe, D Briault, S Laumonnier, F Raynaud, M van Bon, BW Willemsen, MH Leboyer, M Chelly, J Bourgeron, T AF Pagan, Cecile Botros, Hany Goubran Poirier, Karine Dumaine, Anne Jamain, Stephane Moreno, Sarah de Brouwer, Arjan Van Esch, Hilde Delorme, Richard Launay, Jean-Marie Tzschach, Andreas Kalscheuer, Vera Lacombe, Didier Briault, Sylvain Laumonnier, Frederic Raynaud, Martine van Bon, Bregje W. Willemsen, Marjolein H. Leboyer, Marion Chelly, Jamel Bourgeron, Thomas TI Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability SO BMC MEDICAL GENETICS LA English DT Article ID AUTISM SPECTRUM DISORDERS; SLEEP PROBLEMS; CHILDREN; PATHOPHYSIOLOGY; INDIVIDUALS; VARIANT; MTNR1B; RISK; GENE AB Background: Intellectual disability (ID) is frequently associated with sleep disorders. Treatment with melatonin demonstrated efficacy, suggesting that, at least in a subgroup of patients, the endogenous melatonin level may not be sufficient to adequately set the sleep-wake cycles. Mutations in ASMT gene, coding the last enzyme of the melatonin pathway have been reported as a risk factor for autism spectrum disorders (ASD), which are often comorbid with ID. Thus the aim of the study was to ascertain the genetic variability of ASMT in a large cohort of patients with ID and controls. Methods: Here, we sequenced all exons of ASMT in a sample of 361 patients with ID and 440 controls. We then measured the ASMT activity in B lymphoblastoid cell lines (BLCL) of patients with ID carrying an ASMT variant and compared it to controls. Results: We could identify eleven variations modifying the protein sequence of ASMT (ID only: N13H, N17K, V171M, E288D; controls only: E61Q, D210G, K219R, P243L, C273S, R291Q; ID and controls: L298F) and two deleterious splice site mutations (IVS5+2T>C and IVS7+1G>T) only observed in patients with ID. We then ascertained ASMT activity in B lymphoblastoid cell lines from patients carrying the mutations and showed significantly lower enzyme activity in patients carrying mutations compared to controls (p = 0.004). Conclusions: We could identify patients with deleterious ASMT mutations as well as decreased ASMT activity. However, this study does not support ASMT as a causative gene for ID since we observed no significant enrichment in the frequency of ASMT variants in ID compared to controls. Nevertheless, given the impact of sleep difficulties in patients with ID, melatonin supplementation might be of great benefit for a subgroup of patients with low melatonin synthesis. C1 [Pagan, Cecile; Botros, Hany Goubran; Moreno, Sarah; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, Paris, France. [Pagan, Cecile; Poirier, Karine; Launay, Jean-Marie; Chelly, Jamel] Univ Paris 05, Paris, France. [Poirier, Karine; Chelly, Jamel] Inst Cochin, CNRS, ULD 8104, Paris, France. [Dumaine, Anne; Jamain, Stephane; Leboyer, Marion] INSERM, U955, IMRB, F-94000 Creteil, France. [Jamain, Stephane; Leboyer, Marion] Fdn Fondamental, Creteil, France. [de Brouwer, Arjan; van Bon, Bregje W.; Willemsen, Marjolein H.] Radboud Univ Nijmegen, Dept Human Genet, Nijmegen Ctr Mol Life Sci, Med Ctr, NL-6525 ED Nijmegen, Netherlands. [Van Esch, Hilde] Univ Hosp Leuven, Ctr Human Genet, B-3000 Louvain, Belgium. [Launay, Jean-Marie] Hop Lariboisiere, AP HP, Serv Biochim, INSERM U942, F-75475 Paris, France. [Tzschach, Andreas; Kalscheuer, Vera] Max Planck Inst Mol Genet, Dept Ropers, Berlin, Germany. [Lacombe, Didier] CHU Bordeaux, Hop Pellegrin, Serv Genet Med, Bordeaux, France. [Briault, Sylvain] Univ Orleans, CNRS, UMR 6218, IEM,Equipe Genet Expt & Mol, Orleans, France. [Briault, Sylvain] Ctr Hosp Reg Orleans, Orleans, France. [Laumonnier, Frederic; Raynaud, Martine] INSERM, Imaging & Brain U930, Tours, France. [Laumonnier, Frederic; Raynaud, Martine] Univ Tours, Tours, France. [Laumonnier, Frederic; Raynaud, Martine] CNRS, ERL3106, Tours, France. [Raynaud, Martine] Ctr Hosp Reg Univ, Serv Genet, Tours, France. [Leboyer, Marion] Univ Paris E, Fac Med, UMR S 955, F-94000 Creteil, France. [Leboyer, Marion] AP HP, Henri Mondor Albert Chenevier Grp, Dept Psychiat, F-94000 Creteil, France. [Bourgeron, Thomas] Univ Paris 07, Paris, France. RP Bourgeron, T (reprint author), Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, Paris, France. EM thomasb@pasteur.fr RI van Bon, Bregje/D-3720-2013; Willemsen, Marjolein/G-9491-2013; lacombe, didier/K-7967-2014 FU Pasteur Institute; INSERM; Assistance Publique des Hopitaux de Paris; Agence Nationale pour la Recherche [ANR NEURO2006]; EU [QLG3-CT-2002-01810]; RTRS Sante Mentale (Foundation FondaMental) FX We thank the cell bank of Cochin hospital (J Chelly), the Plateforme de Ressource Biologique (B. Ghaleh), the Clinical Investigation Centre 006 (P. Le Corvoisier) of Mondor-Chenevier hospitals, the blood donor centre (J. L. Beaumont and B. Mignen, EFS, Creteil), and the Genetic Unit of the University Hospital of Tours (B Jauffrion) for technical assistance. We thank C. Bouchier and S. Duthoy for the use of sequencing facilities at the Genopole Pasteur, B. Costes and N. Martin at the Genomic platform of the IMRB (M. Gossens). We thank E. Abadie, J. Deshommes and K. Le Dudal for their assistance. This work was supported by the Pasteur Institute, INSERM, Assistance Publique des Hopitaux de Paris, Agence Nationale pour la Recherche (ANR NEURO2006 - Project Manage_BPAD), EU grant QLG3-CT-2002-01810 (EURO-MRX), and the RTRS Sante Mentale (Foundation FondaMental). 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Genet. PD JAN 20 PY 2011 VL 12 AR 17 DI 10.1186/1471-2350-12-17 PG 6 WC Genetics & Heredity SC Genetics & Heredity GA 717ZK UT WOS:000287087700001 PM 21251267 ER PT J AU Bonneh, YS Levanon, Y Dean-Pardo, O Lossos, L Adini, Y AF Bonneh, Yoram S. Levanon, Yoram Dean-Pardo, Omrit Lossos, Lan Adini, Yael TI Abnormal speech spectrum and increased pitch variability in young autistic children SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE autism; speech; pitch variability; ASD ID TIME AVERAGE SPECTRUM; LANGUAGE DISORDERS; PROSODY; BRAIN; PERCEPTION; PATTERNS; THERAPY; SOUNDS; ADULTS AB Children with autism spectrum disorder (ASD) who can speak often exhibit abnormal voice quality and speech prosody, but the exact nature and underlying mechanisms of these abnormalities, as well as their diagnostic power are currently unknown. Here we quantified speech abnormalities in terms of the properties of the long-term average spectrum (LTAS) and pitch variability in speech samples of 83 children (41 with ASD, 42 controls) ages 4-6.5 years, recorded while they named a sequence of daily life pictures for 60 s. We found a significant difference in the group's average spectra, with ASD spectra being shallower and exhibiting less harmonic structure. Contrary to the common impression of monotonic speech in autism, the ASD children had a significantly larger pitch range and variability across time. A measure of this variability, optimally tuned for the sample, yielded 86% success (90% specificity, 80% sensitivity) in classifying ASD in the sample. These results indicate that speech abnormalities in ASD are reflected in its spectral content and pitch variability. This variability could imply abnormal processing of auditory feedback or elevated noise and instability in the mechanisms that control pitch. The current results are a first step toward developing speech spectrum-based bio-markers for early diagnosis of ASD. C1 [Bonneh, Yoram S.] Univ Haifa, Dept Human Biol, IL-31999 Haifa, Israel. [Levanon, Yoram] Netanya Acad Coll, Sch Business Adm, Netanya, Israel. [Levanon, Yoram; Lossos, Lan] Exaudios Technol, Ramat Gan, Israel. [Dean-Pardo, Omrit] Hadassah Acad Coll, Jerusalem, Israel. [Adini, Yael] Inst Vis Res, Kiron, Israel. RP Bonneh, YS (reprint author), Univ Haifa, Dept Human Biol, IL-31999 Haifa, Israel. EM yoram.bonneh@gmail.com FU Cure Autism; National Institute for Psychobiology in Israel FX We thank Drs. Noam Amir, Tal Kenet, and John Houde for helpful comments on preliminary versions of the manuscript. This study was supported by a Cure Autism Now (currently Autism Speaks) innovative technology for autism (ITA) grant and by a grant from the National Institute for Psychobiology in Israel to the first author. 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Hum. Neurosci. PD JAN 19 PY 2011 VL 4 AR 237 DI 10.3389/fnhum.2010.00237 PG 7 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA 748UN UT WOS:000289418200001 PM 21267429 ER PT J AU Aziz, A Harrop, SP Bishop, NE AF Aziz, Azhari Harrop, Sean P. Bishop, Naomi E. TI Characterization of the Deleted in Autism 1 Protein Family: Implications for Studying Cognitive Disorders SO PLOS ONE LA English DT Article ID NEMATODE CAENORHABDITIS-ELEGANS; SPECTRUM DISORDERS; COMPARATIVE GENOMICS; PHYLOGENETIC ANALYSIS; NERVOUS-SYSTEM; ANIMAL-MODELS; SEQUENCE DIVERGENCE; MAXIMUM-LIKELIHOOD; METAZOAN PHYLOGENY; GENE DUPLICATION AB Autism spectrum disorders (ASDs) are a group of commonly occurring, highly-heritable developmental disabilities. Human genes c3orf58 or Deleted In Autism-1 (DIA1) and cXorf36 or Deleted in Autism-1 Related (DIA1R) are implicated in ASD and mental retardation. Both gene products encode signal peptides for targeting to the secretory pathway. As evolutionary medicine has emerged as a key tool for understanding increasing numbers of human diseases, we have used an evolutionary approach to study DIA1 and DIA1R. We found DIA1 conserved from cnidarians to humans, indicating DIA1 evolution coincided with the development of the first primitive synapses. Nematodes lack a DIA1 homologue, indicating Caenorhabditis elegans is not suitable for studying all aspects of ASD etiology, while zebrafish encode two DIA1 paralogues. By contrast to DIA1, DIA1R was found exclusively in vertebrates, with an origin coinciding with the whole-genome duplication events occurring early in the vertebrate lineage, and the evolution of the more complex vertebrate nervous system. Strikingly, DIA1R was present in schooling fish but absent in fish that have adopted a more solitary lifestyle. An additional DIA1-related gene we named DIA1-Like (DIA1L), lacks a signal peptide and is restricted to the genomes of the echinoderm Strongylocentrotus purpuratus and cephalochordate Branchiostoma floridae. Evidence for remarkable DIA1L gene expansion was found in B. floridae. Amino acid alignments of DIA1 family gene products revealed a potential Golgi-retention motif and a number of conserved motifs with unknown function. Furthermore, a glycine and three cysteine residues were absolutely conserved in all DIA1-family proteins, indicating a critical role in protein structure and/or function. We have therefore identified a new metazoan protein family, the DIA1-family, and understanding the biological roles of DIA1-family members will have implications for our understanding of autism and mental retardation. C1 [Aziz, Azhari; Harrop, Sean P.; Bishop, Naomi E.] La Trobe Univ, Dept Microbiol, Bundoora, Vic 3083, Australia. RP Aziz, A (reprint author), La Trobe Univ, Dept Microbiol, Bundoora, Vic 3083, Australia. EM N.Bishop@latrobe.edu.au FU La Trobe University; Malaysian Ministry of Higher Education; Islamic Science University of Malaysia FX NEB and SPH were supported by La Trobe University and AA by La Trobe University, the Malaysian Ministry of Higher Education, and the Islamic Science University of Malaysia. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Bishop, Naomi E. TI DIA1R Is an X-Linked Gene Related to Deleted In Autism-1 SO PLOS ONE LA English DT Article ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING AUTISM; MENTAL-RETARDATION; INTERSTITIAL DELETION; MICRODELETION SYNDROMES; ASPERGER-SYNDROME; TWIN PAIRS; LONG ARM; INTELLECTUAL DISABILITY AB Background: Autism spectrum disorders (ASDs) are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene. Methodology/Principal Findings: Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related). While DIA1 is autosomal (chromosome 3, position 3q24), DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62% similar overall (28% identical), and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. Conclusions/Significance: Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation. C1 [Aziz, Azhari; Harrop, Sean P.; Bishop, Naomi E.] La Trobe Univ, Dept Microbiol, Bundoora, Vic 3083, Australia. RP Aziz, A (reprint author), La Trobe Univ, Dept Microbiol, Bundoora, Vic 3083, Australia. EM N.Bishop@latrobe.edu.au FU La Trobe University; Malaysian Ministry of Higher Education; Islamic Science University of Malaysia FX NEB and SPH were supported by La Trobe University and AA by La Trobe University, the Malaysian Ministry of Higher Education, and the Islamic Science University of Malaysia. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Burket, Jessica A. Herndon, Amy L. Cannon, William R. Deutsch, Stephen I. TI D-serine improves dimensions of the sociability deficit of the genetically-inbred Balb/c mouse strain SO BRAIN RESEARCH BULLETIN LA English DT Article DE Balb/c mouse; Sociability; NMDA receptor; D-serine; Autism spectrum disorders ID NMDA RECEPTOR ANTAGONIST; MK-801; SCHIZOPHRENIA; MICE; SENSITIVITY; MODEL; NEUROTRANSMISSION; PHENOTYPES; EXPRESSION; RELEVANT AB The Balb/c mouse strain shows quantitative deficits of sociability and is behaviorally-hypersensitive to MK-801 (dizocilpine), a noncompetitive NMDA receptor antagonist. D-Serine (560 mg/kg, intraperitoneally), a full agonist for the obligatory glycine co-agonist binding site on the NMDA receptor, increased the amount of time Balb/c mice spend in a compartment containing the enclosed social stimulus mouse and the amount of time Balb/c mice spend exploring (sniffing) an inverted cup containing the enclosed social stimulus mouse in a standard sociability apparatus. These effects of D-serine on the impaired sociability of the Balb/c mouse strain were not due to a "nonspecific" effect on locomotor activity: importantly, the locomotor activity of the Balb/c mouse strain decreases in the presence of an enclosed or freely-moving social stimulus mouse. The data suggest that dimensions of the impaired sociability of the Balb/c mouse strain may be improved by targeted NMDA receptor agonist interventions. (c) 2010 Elsevier Inc. All rights reserved. C1 [Jacome, Luis F.; Burket, Jessica A.; Herndon, Amy L.; Cannon, William R.; Deutsch, Stephen I.] Eastern Virginia Med Sch, Dept Psychiat & Behav Sci, Norfolk, VA 23507 USA. RP Deutsch, SI (reprint author), Eastern Virginia Med Sch, Dept Psychiat & Behav Sci, 825 Fairfax Ave,Suite 710, Norfolk, VA 23507 USA. 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Bull. PD JAN 15 PY 2011 VL 84 IS 1 BP 12 EP 16 DI 10.1016/j.brainresbull.2010.10.010 PG 5 WC Neurosciences SC Neurosciences & Neurology GA 714YQ UT WOS:000286848000003 PM 21056638 ER PT J AU Laube, I Kamphuis, S Dicke, PW Thier, P AF Laube, Inga Kamphuis, Simone Dicke, Peter W. Thier, Peter TI Cortical processing of head- and eye-gaze cues guiding joint social attention SO NEUROIMAGE LA English DT Article ID SUPERIOR TEMPORAL SULCUS; HUMAN NEURAL SYSTEM; FACE PERCEPTION; DIRECTION; AUTISM; BRAIN; FMRI; ORIENTATION; ACTIVATION; HUMANS AB Previous fMRI experiments showed an involvement of the STS in the processing of eye-gaze direction in joint attention. Since head-gaze direction can also be used for the assessment of another person's attentional focus, we compared the mechanisms underlying the processing of head- and eye-gaze direction using a combined psychophysical and fMRI approach. Subjects actively followed the head- or eye-gaze direction of a person in a photograph towards one of seven possible targets by moving their eyes. We showed that the right posterior superior temporal sulcus (STS) as well as the right fusiform gyrus (FSG) were involved in both processing of head- as well as eye-gaze direction. Another finding was a bilateral deactivation of a distinct area in the middle STS (mSTS) as well as the left anterior STS (aSTS), that was stronger when subjects followed eye-gaze direction than when they followed head-gaze direction. We assume that this deactivation is based on an active suppression of information arising from the distracting other directional cue, i.e. head-gaze direction in the eye-gaze direction task and eye-gaze direction in the head-gaze direction task. These results further support the hypothesis that the human equivalent of the gaze sensitive area in monkeys lies in more anterior parts of the STS than previously thought. (C) 2010 Elsevier Inc. All rights reserved. C1 [Laube, Inga; Kamphuis, Simone; Dicke, Peter W.; Thier, Peter] Univ Tubingen, Dept Cognit Neurol, Hertie Inst Clin Brain Res, Tubingen, Germany. [Laube, Inga] Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia. RP Dicke, PW (reprint author), Univ Tubingen, Dept Cognit Neurol, Hertie Inst Clin Brain Res, Tubingen, Germany. 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The neurobiological bases of these disorders are poorly understood, although several abnormalities have been found. Pharmacotherapy in autism spectrum disorders lacks a solid, reliable neurobiological basis and at present it is mainly directed at the so-called associated behavioral symptoms, with limited relevance to core symptoms. Atypical neuroleptics, especially risperidone, have been shown to be useful in the treatment of behavioral symptoms in autism. Recent trials with SSRIs did not show remarkable results, in spite of their promising potential role. Attention deficit and hyperactivity disorder medications may be useful for counteracting the additional features of hyperactivity and short attention span. Antiepileptics have shown promising results but there are no specific indications for them as of yet. Research is now directed at evaluating novel treatments and combined behavioral and pharmacologic treatments, since behavioral interventions are the mainstay of the early treatment of autism. An update of currently available pharmacological treatments is provided. (C) 2010 Elsevier Inc. All rights reserved. C1 [Canitano, Roberto; Scandurra, Valeria] Univ Hosp Siena, Div Child Neuropsychiat, I-53100 Siena, Italy. RP Canitano, R (reprint author), Univ Hosp Siena, Div Child Neuropsychiat, Viale Bracci 14, I-53100 Siena, Italy. 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Neuro-Psychopharmacol. Biol. Psychiatry PD JAN 15 PY 2011 VL 35 IS 1 BP 18 EP 28 DI 10.1016/j.pnpbp.2010.10.015 PG 11 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 720HL UT WOS:000287271400003 PM 21034789 ER PT J AU Allensworth, M Saha, A Reiter, LT Heck, DH AF Allensworth, Melody Saha, Anand Reiter, Lawrence T. Heck, Detlef H. TI Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome SO BMC GENETICS LA English DT Article ID DIAGNOSTIC-CRITERIA; MICE; MUTATIONS; PHENOTYPE; CONSENSUS; AUTISM; LIGASE; UBE3A AB Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with mental retardation, a generally happy disposition, ataxia and characteristic behaviors such as inappropriate laughter, social-seeking behavior and hyperactivity. The majority of AS cases are due to loss of the maternal copy of the UBE3A gene. Maternal Ube3a deficiency (Ube3a(m-/p+)), as well as complete loss of Ube3a expression (Ube3a(m-/p-)), have been reproduced in the mouse model used here. Results: Here we asked if two characteristic AS phenotypes - social-seeking behavior and hyperactivity - are reproduced in the Ube3a deficient mouse model of AS. We quantified social-seeking behavior as time spent in close proximity to a stranger mouse and activity as total time spent moving during exploration, movement speed and total length of the exploratory path. Mice of all three genotypes (Ube3a(m+/p+), Ube3a(m-/p+), Ube3a(m-/p-)) were tested and found to spend the same amount of time in close proximity to the stranger, indicating that Ube3a deficiency in mice does not result in increased social seeking behavior or social dis-inhibition. Also, Ube3a deficient mice were hypoactive compared to their wild-type littermates as shown by significantly lower levels of activity, slower movement velocities, shorter exploratory paths and a reduced exploratory range. Conclusions: Although hyperactivity and social-seeking behavior are characteristic phenotypes of Angelman Syndrome in humans, the Ube3a deficient mouse model does not reproduce these phenotypes in comparison to their wild-type littermates. These phenotypic differences may be explained by differences in the size of the genetic defect as similar to 70% of AS patients have a deletion that includes several other genes surrounding the UBE3A locus. C1 [Allensworth, Melody; Saha, Anand; Reiter, Lawrence T.; Heck, Detlef H.] Univ Tennessee, Dept Anat & Neurobiol, Hlth Sci Ctr, Memphis, TN 38139 USA. [Reiter, Lawrence T.] Univ Tennessee, Dept Neurol, Hlth Sci Ctr, Memphis, TN 38139 USA. [Reiter, Lawrence T.] Univ Tennessee, Dept Pediat, Hlth Sci Ctr, Memphis, TN 38139 USA. RP Heck, DH (reprint author), Univ Tennessee, Dept Anat & Neurobiol, Hlth Sci Ctr, Memphis, TN 38139 USA. EM dheck@uthsc.edu FU National Institute of Child Health and Human Development [HD057244-02]; Angelman Syndrome Foundation; National Institute of Neurological Disorders and Stroke [R01NS059902] FX This work was supported by grants from the National Institute of Child Health and Human Development (HD057244-02) to DHH and the Angelman Syndrome Foundation to LTR and DHH as well as the National Institute of Neurological Disorders and Stroke (R01NS059902) to LTR. The content of this publication is solely the responsibility of the authors and do not necessarily represent the official views of the NIH. 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Eng, Charis TI A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID HAMARTOMA-TUMOR-SYNDROME; RILEY-RUVALCABA-SYNDROME; LIPID PHOSPHATASE-ACTIVITY; AUTISM SPECTRUM DISORDERS; SYNDROME PLEASE STAND; BREAST-CANCER MODEL; COWDEN-SYNDROME; ARTERIOVENOUS-MALFORMATIONS; PROMOTER MUTATIONS; PROTEIN AB Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma tumor syndrome. To date, there are no existing criteria based on large prospective patient cohorts to select patients for PTEN mutation testing. To address these issues, we conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued. PTEN mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluate clinical phenotype and PTEN genotype against protein expression, we performed immunoblotting (PTEN, P-AKT1, P-MAPK1/2) for a patient subset (n = 423). In order to obtain an individualized estimation of pretest probability of germline PTEN mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For adults, a semiquantitative score the Cleveland Clinic (CC) score resulted in a well-calibrated estimation of pretest probability of PTEN status. Overall, decreased PTEN protein expression correlated with PTEN mutation status; decreasing PTEN protein expression correlated with increasing CC score (p <0.001), but not with the National Comprehensive Cancer Network (NCCN) criteria (p = 0.11). For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010 criteria in both cohorts. We present the first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing, further supported biologically by protein correlation. C1 [Tan, Min-Han; Mester, Jessica; Peterson, Charissa; Yang, Yiran; Chen, Jin-Lian; Orloff, Mohammed S.; Eng, Charis] Cleveland Clin, Genom Med Inst, Cleveland, OH 44195 USA. [Tan, Min-Han; Mester, Jessica; Peterson, Charissa; Yang, Yiran; Chen, Jin-Lian; Rybicki, Lisa A.; Orloff, Mohammed S.; Eng, Charis] Cleveland Clin, Lerner Res Inst, Cleveland, OH 44195 USA. [Rybicki, Lisa A.; Orloff, Mohammed S.; Eng, Charis] Cleveland Clin, Taussig Canc Inst, Cleveland, OH 44195 USA. [Rybicki, Lisa A.] Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44195 USA. [Mester, Jessica; Milas, Kresimira; Eng, Charis] Cleveland Clin, Endocrinol & Metab Inst, Thyroid Canc Ctr, Cleveland, OH 44195 USA. [Pederson, Holly] Cleveland Clin, Womens Hlth & Obstet Inst, High Risk Breast Canc Clin, Cleveland, OH 44195 USA. [Remzi, Berna] Cleveland Clin, Dept Dermatol, Cleveland, OH 44195 USA. [Eng, Charis] Cleveland Clin, Stanley Shalom Zielony Inst Nursing Excellence, Cleveland, OH 44195 USA. [Eng, Charis] Case Western Reserve Univ, CASE Comprehens Canc Ctr, Cleveland, OH 44106 USA. [Eng, Charis] Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA. RP Eng, C (reprint author), Cleveland Clin, Genom Med Inst, Cleveland, OH 44195 USA. EM engc@ccf.org FU National Cancer Institute [P01CA124570, R01CA118989]; American Cancer Society [RPG-02-151-01-CCE]; William Randolph Hearst Foundations; Doris Duke Distinguished Clinical Scientist Award; F.M. Kirby Foundation FX We would like to thank the Genomic Medicine Biorepository of the Cleveland Clinic Genomic Medicine Institute, as well as the Eng laboratory personnel over the last 14 years who have contributed technical assistance, technical advice, and helpful discussions. We would also like to express our gratitude to all the patients and clinical collaborators from all the centers around the world who have contributed their time and specimens over the last 10 years. This study is funded, in part, by the National Cancer Institute (P01CA124570 and R01CA118989), American Cancer Society (RPG-02-151-01-CCE), William Randolph Hearst Foundations, and Doris Duke Distinguished Clinical Scientist Award (all to C.E.). M.-H.T. is the Lee Foundation (Singapore) Fellow and an Ambrose Monell Foundation Canter Genomic Medicine Clinical Fellow at the Cleveland Clinic Genomic Medicine Institute. C.E. is the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine at the Cleveland Clinic. C.E. is the recipient of an American Cancer Society Clinical Research Professorship, generously funded, in part, by the F.M. Kirby Foundation. 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PD JAN 7 PY 2011 VL 88 IS 1 BP 121 EP 121 DI 10.1016/j.ajhg.2010.12.005 PG 1 WC Genetics & Heredity SC Genetics & Heredity GA 710HJ UT WOS:000286501500013 ER PT J AU Dalrymple, KA Birmingham, E Bischof, WF Barton, JJS Kingstone, A AF Dalrymple, Kirsten A. Birmingham, Elina Bischof, Walter F. Barton, Jason J. S. Kingstone, Alan TI Experiencing simultanagnosia through windowed viewing of complex social scenes SO BRAIN RESEARCH LA English DT Article DE Attention; Simultanagnosia; Social scene perception; Gaze-contingent ID BALINTS-SYNDROME; ATTENTION; AUTISM; INDIVIDUALS; PERCEPTION; SELECTION; FIXATION; BEHAVIOR; CAPTURE; VISION AB Simultanagnosia is a disorder of visual attention, defined as an inability to see more than one object at once. It has been conceived as being due to a constriction of the visual "window" of attention, a metaphor that we examine in the present article. A simultanagnosic patient (SL) and two non-simultanagnosic control patients (KC and ES) described social scenes while their eye movements were monitored. These data were compared to a group of healthy subjects who described the same scenes under the same conditions as the patients, or through an aperture that restricted their vision to a small portion of the scene. Experiment 1 demonstrated that SL showed unusually low proportions of fixations to the eyes in social scenes, which contrasted with all other participants who demonstrated the standard preferential bias toward eyes. Experiments 2 and 3 revealed that when healthy participants viewed scenes through a window that was contingent on where they looked (Experiment 2) or where they moved a computer mouse (Experiment 3), their behavior closely mirrored that of patient SL These findings suggest that a constricted window of visual processing has important consequences for how simultanagnosic patients explore their world. Our paradigm's capacity to mimic simultanagnosic behaviors while viewing complex scenes implies that it may be a valid way of modeling simultanagnosia in healthy individuals, providing a useful tool for future research. More broadly, our results support the thesis that people fixate the eyes in social scenes because they are informative to the meaning of the scene. (C) 2010 Elsevier B.V. All rights reserved. C1 [Dalrymple, Kirsten A.; Barton, Jason J. S.; Kingstone, Alan] Univ British Columbia, Dept Psychol, Vancouver, BC, Canada. [Barton, Jason J. S.] Univ British Columbia, Dept Med Neurol, Vancouver, BC, Canada. [Barton, Jason J. S.] Univ British Columbia, Dept Ophthalmol & Visual Sci, Vancouver, BC, Canada. [Birmingham, Elina] Simon Fraser Univ, Dept Psychol, Vancouver, BC, Canada. [Bischof, Walter F.] Univ Alberta, Dept Comp Sci, Edmonton, AB, Canada. RP Dalrymple, KA (reprint author), Univ British Columbia, Dept Psychol, 2136 W Mall, Vancouver, BC, Canada. EM kdalrymple@psych.ubc.ca RI Barton, Jason/A-6362-2012 FU Natural Sciences and Engineering Research Council (NSERC); Michael Smith Foundation for Health Research (MSFHR); Human Early Learning Partnership; Hampton Foundation; Canada Research Chair FX K.A.D. and E.B. were supported by the Natural Sciences and Engineering Research Council (NSERC) and the Michael Smith Foundation for Health Research (MSFHR). A.K. was supported by NSERC, a MSFHR Senior Scholar award, the Human Early Learning Partnership, and the Hampton Foundation. J.J.S.B. was supported by a Canada Research Chair and MSFHR Senior Scholarship. W.F.B. was supported by NSERC. Thank you to S.L., ES, and KC, for their time and dedication to this project. 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PD JAN 7 PY 2011 VL 1367 BP 265 EP 277 DI 10.1016/j.brainres.2010.10.022 PG 13 WC Neurosciences SC Neurosciences & Neurology GA 717RY UT WOS:000287066300027 PM 20950591 ER PT J AU Kulesza, RJ Lukose, R Stevens, LV AF Kulesza, Randy J., Jr. Lukose, Richard Stevens, Lisa Veith TI Malformation of the human superior olive in autistic spectrum disorders SO BRAIN RESEARCH LA English DT Article DE Auditory; Development; Superior olivary complex; Trapezoid body ID BRAIN-STEM RESPONSES; PERVASIVE DEVELOPMENTAL DISORDER; AUDITORY-EVOKED RESPONSES; CEREBELLAR PURKINJE-CELLS; MESSENGER-RNA LEVELS; SONG CONTROL-SYSTEM; ASPERGERS-SYNDROME; INFANTILE-AUTISM; SOUND LOCALIZATION; PERINEURONAL NETS AB Autistic spectrum disorders (ASD) comprise a continuum of psychosocial disorders clinically characterized by social difficulties, impaired communication skills and repetitive behavioral patterns. Despite the prevalence of ASD, the neurobiology of this disorder is poorly understood. However, abnormalities in neuronal morphology, cell number and connectivity have been described throughout the autistic brain. Further, there is ample evidence that auditory dysfunction is a common feature of autism. Our preliminary investigation of neuronal morphology in the auditory brainstem of individuals with ASD focused on the medial superior olive (MSO) and revealed that neurons in this region were significantly smaller and rounder than in controls. In this report, we expand our investigation to examine all nuclei within the human superior olivary complex (SOC), an important auditory brainstem center. We examine neuronal morphology and neuronal number in four control (average age = 15 years) and 9 autistic brains (average age = 15 years). This detailed investigation supports our previous descriptions of the MSO, and also reveals significant dysmorphology in five other SOC nuclei. 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PD JAN 7 PY 2011 VL 1367 BP 360 EP 371 DI 10.1016/j.brainres.2010.10.015 PG 12 WC Neurosciences SC Neurosciences & Neurology GA 717RY UT WOS:000287066300036 PM 20946889 ER PT J AU Burstyn, I Wang, XM Yasui, Y Sithole, F Zwaigenbaum, L AF Burstyn, Igor Wang, Xiaoming Yasui, Yutaka Sithole, Fortune Zwaigenbaum, Lonnie TI Autism spectrum disorders and fetal hypoxia in a population-based cohort: Accounting for missing exposures via Estimation-Maximization algorithm SO BMC MEDICAL RESEARCH METHODOLOGY LA English DT Article ID RISK-FACTORS; NEONATAL ENCEPHALOPATHY; PREVALENCE; INTEGRATION; PREGNANCY; ASPHYXIA; HISTORY AB Background: Autism spectrum disorders (ASD) are associated with complications of pregnancy that implicate fetal hypoxia (FH); the excess of ASD in male gender is poorly understood. We tested the hypothesis that risk of ASD is related to fetal hypoxia and investigated whether this effect is greater among males. Methods: Provincial delivery records (PDR) identified the cohort of all 218,890 singleton live births in the province of Alberta, Canada, between 01-01-98 and 12-31-04. These were followed-up for ASD via ICD-9 diagnostic codes assigned by physician billing until 03-31-08. Maternal and obstetric risk factors, including FH determined from blood tests of acidity (pH), were extracted from PDR. The binary FH status was missing in approximately half of subjects. Assuming that characteristics of mothers and pregnancies would be correlated with FH, we used an Estimation-Maximization algorithm to estimate HF-ASD association, allowing for both missing-at-random (MAR) and specific not-missing-at-random (NMAR) mechanisms. Results: Data indicated that there was excess risk of ASD among males who were hypoxic at birth, not materially affected by adjustment for potential confounding due to birth year and socio-economic status: OR 1.13, 95% CI: 0.96, 1.33 (MAR assumption). Limiting analysis to full-term males, the adjusted OR under specific NMAR assumptions spanned 95% CI of 1.0 to 1.6. Conclusion: Our results are consistent with a weak effect of fetal hypoxia on risk of ASD among males. E-M algorithm is an efficient and flexible tool for modeling missing data in the studied setting. C1 [Burstyn, Igor; Sithole, Fortune] Univ Alberta, Dept Med, Fac Med & Dent, Edmonton, AB, Canada. [Burstyn, Igor] Drexel Univ, Dept Environm & Occupat Hlth, Sch Publ Hlth, Philadelphia, PA 19104 USA. [Wang, Xiaoming; Yasui, Yutaka] Univ Alberta, Dept Publ Hlth Sci, Sch Publ Hlth, Edmonton, AB, Canada. [Wang, Xiaoming] Shanghai Univ Finance & Econ, Sch Stat & Management, Shanghai, Peoples R China. [Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Fac Med & Dent, Edmonton, AB, Canada. RP Burstyn, I (reprint author), Univ Alberta, Dept Med, Fac Med & Dent, Edmonton, AB, Canada. EM igor.burstyn@drexel.edu RI Yasui, Yutaka/E-2564-2015 OI Yasui, Yutaka/0000-0002-7717-8638 FU Alberta Heritage Foundation for Medical Research; Population Health Investigator FX Igor Burstyn and Lonnie Zwaigenbaum were supported, respectively, by the Population Health Investigator and Health Scholar salary awards from the Alberta Heritage Foundation for Medical Research. This study is based on data supplied by Alberta Health and Wellness (AHW) and the Alberta Perinatal health Program (APHP). The interpretation and conclusions contained herein are those of the researchers and do not necessarily represent the views of the Government of Alberta or APHP. Neither the Government, nor AHW, nor the APHP expresses any opinion in relation to this study. We are grateful to AHW and APHP for supplying and linking the data; special thanks go to Alex Marinov, Wendy Mitchell, Nancy Piche, Nancy Bott and Sharon Zhang. 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PBDE exposures occur both via breastfeeding and hand-to-mouth activities in small children. Methods: Participants were 100 children from the CHARGE (CHildhood Autism Risk from Genetics and the Environment) Study, a case-control epidemiologic investigation of children with autism/autism spectrum disorder, with developmental delay and from the general population. Diagnoses of autism were confirmed by the Autism Diagnostic Observation Schedule and Autism Diagnostic Inventory-Revised, and of developmental delay using the Mullen's Scales of Early Learning and the Vineland Adaptive Behavior Scales. Typically developing controls were those with no evidence of delay, autism, or autism spectrum disorder. Eleven PBDE congeners were measured by gas chromatography/mass spectrometry from serum specimens collected after children were assessed. Logistic regression was used to evaluate the association between plasma PBDEs and autism. Results: Children with autism/autism spectrum disorder and developmental delay were similar to typically developing controls for all PBDE congeners, but levels were high for all three groups. Conclusions: Plasma samples collected post-diagnosis in this study may not represent early life exposures due to changes in diet and introduction of new household products containing PBDEs. Studies with direct measurements of prenatal or infant exposures are needed to assess the possible causal role for these compounds in autism spectrum disorders. C1 [Hertz-Picciotto, Irva; Rose, Melissa; Krakowiak, Paula; Bennett, Deborah H.] Univ Calif Davis, Dept Publ Hlth Sci, Sch Med, MSIC, Davis, CA 95616 USA. [Bergman, Ake; Fangstrom, Britta] Stockholm Univ, Dept Mat & Environm Chem, SE-10691 Stockholm, Sweden. [Pessah, Isaac] Univ Calif Davis, Dept Mol Biosci, Sch Vet Med, Davis, CA 95616 USA. [Hansen, Robin] Univ Calif Davis, Sch Med, Dept Pediat, Davis, CA 95616 USA. RP Hertz-Picciotto, I (reprint author), Univ Calif Davis, Dept Publ Hlth Sci, Sch Med, MSIC, 1 Shields Ave, Davis, CA 95616 USA. EM ihp@ucdavis.edu FU NIEHS [P01-ES11269, R01-ES015359]; EPA STAR [R-829388, R833292]; M.I.N.D. Institute; Shirley Craven; Cure Autism Now (now Autism Speaks) FX We gratefully acknowledge grant support for this research: NIEHS P01-ES11269, R01-ES015359, EPA STAR #R-829388 & R833292, The M.I.N.D. Institute, Shirley Craven and Cure Autism Now (now Autism Speaks). Thanks to Christina Mich for her thoughtful questions and insights about this research. 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One prominent account of autism, Baron-Cohen's "systemizing" theory, gives us good reason to suspect that they should. In this study, wetested whether autistic children's exceptional skills at small-scale search extend to a large-scale environment and, in so doing, tested key claims of the systemizing account. Twenty school-age children with autism and 20 age- and ability-matched typical children took part in a large-scale search task in the "foraging room": a purpose-built laboratory, with numerous possible search locations embedded into the floor. Children were instructed to search an array of 16 (green) locations to find the hidden (red) target as quickly as possible. The distribution of target locations was manipulated so that they appeared on one side of the midline for 80% of trials. 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CA BASIS Team BE Braddick, O Atkinson, J Innocenti, GM TI Social and attention factors during infancy and the later emergence of autism characteristics SO GENE EXPRESSION TO NEUROBIOLOGY AND BEHAVIOR: HUMAN BRAIN DEVELOPMENT AND DEVELOPMENTAL DISORDERS SE Progress in Brain Research LA English DT Review; Book Chapter DE autism; development; visual attention; face processing ID YOUNG-CHILDREN; VISUAL-ATTENTION; ATYPICAL DEVELOPMENT; BRAIN; PHENOTYPE; FACE; DISORDERS; DEFICITS; DISENGAGEMENT; PERCEPTION AB Characteristic features of autism include atypical social perception and social-communication skills, and atypical visual attention, alongside rigid and repetitive thinking and behavior. Debate has focused on whether the later emergence of atypical social skills is a consequence of attention problems early in life, or, conversely, whether early social deficits have knock-on consequences for the later development of attention skills. We investigated this question based on evidence from infants at familial risk for a later diagnosis of autism by virtue of being younger siblings of children with a diagnosis. Around 9 months, at-risk siblings differed as a group from controls, both in measures of social perception and inhibitory control. We present preliminary data from an ongoing longitudinal research program, suggesting clear associations between some of these infant measures and autism-related characteristics at 3 years. We discuss the findings in terms of the emergent nature of autism as a result of complex developmental interactions among brain networks. C1 [Elsabbagh, Mayada; Holmboe, Karla; Gliga, Teodora; Mercure, Evelyne; Johnson, Mark H.] Univ London, Ctr Brain & Cognit Dev, London, England. [Holmboe, Karla; Bolton, Patrick] Kings Coll London, Inst Psychiat, London WC2R 2LS, England. [Hudry, Kristelle; Charman, Tony] Univ London, Inst Educ, Ctr Res Autism & Educ, London WC1N 1AZ, England. [Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Cambridge CB2 1TN, England. RP Elsabbagh, M (reprint author), Univ London, Ctr Brain & Cognit Dev, London, England. 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T., 2007, HUMAN FRONTAL LOBES, P292 van der Geest JN, 2001, BIOL PSYCHIAT, V50, P614, DOI 10.1016/S0006-3223(01)01070-8 Yirmiya N, 2010, J CHILD PSYCHOL PSYC, V51, P432, DOI 10.1111/j.1469-7610.2010.02214.x Zwaigenbaum L, 2007, J AUTISM DEV DISORD, V37, P466, DOI 10.1007/s10803-006-0179-x Zwaigenbaum L, 2005, INT J DEV NEUROSCI, V23, P143, DOI 10.1016/j.ijdevneu.2004.05.001 NR 52 TC 14 Z9 14 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA SARA BURGERHARTSTRAAT 25, PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0079-6123 BN 978-0-44-453885-7 J9 PROG BRAIN RES JI Prog. Brain Res. PY 2011 VL 189 BP 195 EP 207 DI 10.1016/B978-0-444-53884-0.00025-7 PG 13 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA BCR63 UT WOS:000311107200012 PM 21489390 ER PT J AU Falck-Ytter, T von Hofsten, C AF Falck-Ytter, Terje von Hofsten, Claes BE Braddick, O Atkinson, J Innocenti, GM TI How special is social looking in ASD: A review SO GENE EXPRESSION TO NEUROBIOLOGY AND BEHAVIOR: HUMAN BRAIN DEVELOPMENT AND DEVELOPMENTAL DISORDERS SE Progress in Brain Research LA English DT Review; Book Chapter DE autism; ASD; face scanning; development; language ID AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL-CHANGES; GAZE BEHAVIOR; EMOTIONAL FACES; YOUNG-CHILDREN; EYE-MOVEMENTS; PERCEPTION; PATTERNS; MIRROR; FIXATION AB This review is primarily concerned with the view that individuals with autism spectrum disorder (ASD) look less at the eyes and more at the mouth compared to typically developing (TD) individuals. Such performance in ASD could reflect that the eyes are not meaningful or that they are perceived as threatening, two ideas that may seem intuitively appealing. However, our review shows that despite the fact that the excess mouth/diminished eye gaze hypothesis fits with clinical common sense and initial data from adults, it does not-as a generalization across ages and contexts-fit with the emerging pattern of eye-tracking data. In adolescents and adults, there is only partial support for the excess mouth/diminished eye gaze hypothesis, and regarding children, most studies do not support this hypothesis. In particular, independent studies have found longer looking durations on the mouth in TD children than in children with ASD, and no difference for the eye area. We describe recent evidence that mouth fixations are functional responses related to (early) stages of normative language development. We conclude that although individuals with ASD often give less preferential attention to social objects and events (faces, people, and social actions) than TD individuals, the excess mouth/diminished eye gaze hypothesis of ASD is not generally supported. Therefore, this hypothesis needs to be reevaluated, as do related theories of social perception in ASD. C1 [Falck-Ytter, Terje] Astrid Lindgren Childrens Hosp, Ctr Neurodev Disorders, Karolinska Inst KIND, Stockholm, Sweden. [Falck-Ytter, Terje; von Hofsten, Claes] Uppsala Univ, Dept Psychol, Uppsala, Sweden. [von Hofsten, Claes] Univ Oslo, Dept Psychol, Oslo, Norway. RP Falck-Ytter, T (reprint author), Astrid Lindgren Childrens Hosp, Ctr Neurodev Disorders, Karolinska Inst KIND, Stockholm, Sweden. 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PY 2011 VL 189 BP 209 EP 222 DI 10.1016/B978-0-444-53884-0.00026-9 PG 14 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA BCR63 UT WOS:000311107200013 PM 21489391 ER PT S AU Atkinson, J Braddick, O AF Atkinson, Janette Braddick, Oliver BE Braddick, O Atkinson, J Innocenti, GM TI From genes to brain development to phenotypic behavior: "Dorsal-stream vulnerability" in relation to spatial cognition, attention, and planning of actions in Williams syndrome (WS) and other developmental disorders SO GENE EXPRESSION TO NEUROBIOLOGY AND BEHAVIOR: HUMAN BRAIN DEVELOPMENT AND DEVELOPMENTAL DISORDERS SE Progress in Brain Research LA English DT Review; Book Chapter DE Williams syndrome; neurodevelopmental disorders; attention; dorsal stream vulnerability ID FRAGILE-X-SYNDROME; DOWN-SYNDROME; MOTION COHERENCE; SUSTAINED ATTENTION; NEUROPSYCHOLOGICAL PROFILE; DIFFERENTIAL IMPACT; EXECUTIVE FUNCTION; PREFRONTAL CORTEX; WORKING-MEMORY; VISUAL-SEARCH AB Visual information is believed to be processed through two distinct, yet interacting cortical streams. The ventral stream performs the computations needed for recognition of objects and faces ("what" and "who"?) and the dorsal stream the computations for registering spatial relationships and for controlling visually guided actions ("where" and "how"?). We initially proposed a model of spatial deficits in Williams syndrome (WS) in which visual abilities subserved by the ventral stream, such as face recognition, are relatively well developed (although not necessarily in exactly the same way as in typical development), whereas dorsal-stream functions, such as visuospatial actions, are markedly impaired. Since these initial findings in WS, deficits of motion coherence sensitivity, a dorsal-stream function has been found in other genetic disorders such as Fragile X and autism, and as a consequence of perinatal events (in hemiplegia, perinatal brain anomalies following very premature birth), leading to the proposal of a general "dorsal-stream vulnerability" in many different conditions of abnormal human development. In addition, dorsal-stream systems provide information used in tasks of visuospatial memory and locomotor planning, and these systems are closely coupled to networks for attentional control. We and several other research groups have previously shown deficits of frontal and parietal lobe function in WS individuals for specific attention tasks [e. g., Atkinson, J., Braddick, O., Anker, S., Curran, W., & Andrew, R. (2003). Neurobiological models of visuospatial cognition in children with Williams Syndrome: Measures of dorsal-stream and frontal function. Developmental Neuropsychology, 23(1/2), 141-174.]. We have used the Test of Everyday Attention for Children (TEA-Ch) which aims to attempt to separate components of attention with distinct brain networks (selective attention, sustained attention, and attention control-executive function) testing a group of older children with WS, but this test battery is too demanding for many children and adults with WS. Consequently, we have devised a new set of tests of attention, the Early Childhood Attention Battery (ECAB). This uses similar principles to the TEA-Ch, but adapted for mental ages younger than 6 years. The ECAB shows a distinctive attention profile for WS individuals relative to their overall cognitive development, with relative strength in tasks of sustained attention and poorer performance on tasks of selective attention and executive control. These profiles, and the characteristic developmental courses, also show differences between children with Down's syndrome and WS. This chapter briefly reviews new research findings on WS in these areas, relating the development of brain systems in WS to evidence from neuroimaging in typically developing infants, children born very preterm, and normal adults. The hypothesis of "dorsal-stream(s) vulnerability" which will be discussed includes a number of interlinked brain networks, subserving not only global visual processing and formulation of visuomotor actions but interlinked networks of attention. C1 [Atkinson, Janette] UCL, Visual Dev Unit, London, England. [Braddick, Oliver] Univ Oxford, Dept Expt Psychol, Oxford OX1 3UD, England. RP Atkinson, J (reprint author), UCL, Visual Dev Unit, London, England. 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PY 2011 VL 12 SU 1 MA P22 BP 14 EP 14 PG 1 WC Biotechnology & Applied Microbiology; Genetics & Heredity SC Biotechnology & Applied Microbiology; Genetics & Heredity GA 002QH UT WOS:000308546700035 ER PT J AU Aoki, Y Yamasue, H Abe, O Yahata, N Natsubori, T Iwashiro, N Takano, Y Inoue, H Kuwabara, H Kawakubo, Y Gonoi, W Sasaki, H Murakami, M Katsura, M Nippashi, Y Takao, H Kunimatsu, A Matsuzaki, H Tsuchiya, K Kasai, K AF Aoki, Yuta Yamasue, Hidenori Abe, Osamu Yahata, Noriaki Natsubori, Tatsunobu Iwashiro, Norichika Takano, Yosuke Inoue, Hideyuki Kuwabara, Hitoshi Kawakubo, Yuki Gonoi, Wataru Sasaki, Hiroki Murakami, Mizuho Katsura, Masaki Nippashi, Yasumasa Takao, Hidemasa Kunimatsu, Akira Matsuzaki, Hideo Tsuchiya, Kenji Kasai, Kiyoto TI Neurochemical alterations in medial prefrontal cortex of people with autism SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Aoki, Yuta; Yamasue, Hidenori; Yahata, Noriaki; Natsubori, Tatsunobu; Iwashiro, Norichika; Takano, Yosuke; Inoue, Hideyuki; Kasai, Kiyoto] Univ Tokyo, Dept Psych, Tokyo, Japan. [Yamasue, Hidenori] CREST, JST, Tokyo, Japan. [Abe, Osamu] Nihon Univ, Sch Med, Dept Radiol, Tokyo, Japan. [Yahata, Noriaki] Univ Tokyo, GCOE, Tokyo, Japan. [Kuwabara, Hitoshi; Kawakubo, Yuki] Univ Tokyo, Dept Child Psych, Tokyo, Japan. [Gonoi, Wataru; Sasaki, Hiroki; Murakami, Mizuho; Katsura, Masaki; Nippashi, Yasumasa; Takao, Hidemasa; Kunimatsu, Akira] Univ Tokyo, Dept Radiol, Tokyo, Japan. [Matsuzaki, Hideo; Tsuchiya, Kenji] Hamamatsu Univ Sch Med, Osaka Hamamatsu Joint Res Ctr Child Mental Develo, Hamamatsu, Shizuoka 4313192, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E401 EP E401 DI 10.1016/j.neures.2011.07.1758 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218102229 ER PT J AU Dolmetsch, R AF Dolmetsch, Ricardo TI Using iPS cells to study the underlying neurobiology of autism spectrum disorders and other neurodevelopmental diseases SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Dolmetsch, Ricardo] Stanford Univ, Dept Neurobiol, Stanford, CA 94305 USA. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E37 EP E38 DI 10.1016/j.neures.2011.07.165 PG 2 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100162 ER PT J AU Esposito, G AF Esposito, Gianluca TI Early postures and gait development in Autism Spectrum Disorders (ASD) SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Esposito, Gianluca] Kuroda Res Unit Affiliat Social Behav RIKEN BSI, Saitama, Japan. [Esposito, Gianluca] Univ Trent, Dept Cognit Sci & Educ, Trento, Italy. RI Esposito, Gianluca/K-9353-2013 OI Esposito, Gianluca/0000-0002-9442-0254 NR 0 TC 1 Z9 1 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E101 EP E101 DI 10.1016/j.neures.2011.07.432 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100428 ER PT J AU Higashida, H AF Higashida, Haruhiro TI A missense mutation in CD38 associated with autism spectrum disorder and oxytocin treatment SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Higashida, Haruhiro] Kanazawa Univ, Grad Sch Med, Dep Biophys Genet, Kanazawa, Ishikawa, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E14 EP E14 DI 10.1016/j.neures.2011.07.055 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100052 ER PT J AU Ishii, A Kawakubo, Y Takizawa, R Nishimura, Y Kuwabara, H Kano, Y Kasai, K AF Ishii, Ayaka Kawakubo, Yuki Takizawa, Ryuu Nishimura, Yukika Kuwabara, Hitoshi Kano, Yukiko Kasai, Kiyoto TI Task-specific different hemodynamic response patterns in inhibitory control using NIRS between drug-naive adults with autism spectrum disorder and with ADHD SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Ishii, Ayaka; Kawakubo, Yuki; Takizawa, Ryuu; Nishimura, Yukika; Kuwabara, Hitoshi; Kano, Yukiko; Kasai, Kiyoto] Univ Tokyo, Grad Sch Med, Tokyo, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E401 EP E402 DI 10.1016/j.neures.2011.07.1760 PG 2 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218102231 ER PT J AU Izuma, K Matsumoto, K Camerer, CF Adolphs, R AF Izuma, Keise Matsumoto, Kenji Camerer, Colin F. Adolphs, Ralph TI Insensitivity to social reputation in autism SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Izuma, Keise; Camerer, Colin F.; Adolphs, Ralph] CALTECH, Pasadena, CA 91125 USA. [Matsumoto, Kenji] Tamagawa Univ Tokyo, Tokyo, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E77 EP E77 DI 10.1016/j.neures.2011.07.327 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100325 ER PT J AU Jimbo, E Tanabe, Y Momoi, M Momoi, T AF Jimbo, Eriko Tanabe, Yuko Momoi, Mariko Momoi, Takashi TI CADM1, a molecule linked to autism spectrum disorder, forms a synapse of Purkinje cells for ultrasonic vocalization SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Jimbo, Eriko; Momoi, Mariko] Jichi Med Univ, Dept Pediat, Shimotsuke, Japan. [Tanabe, Yuko] Keio Univ, Dept Biochem, Fac Pham, Tokyo 108, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E120 EP E120 DI 10.1016/j.neures.2011.07.513 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100508 ER PT J AU Kitazawa, S Nakano, T AF Kitazawa, Shigeru Nakano, Tamami TI Using eye movements and blinks to probe social impairments in autism SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Kitazawa, Shigeru; Nakano, Tamami] Juntendo Univ, Grad Sch Med, Dep Neurophysiol, Tokyo, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E14 EP E14 DI 10.1016/j.neures.2011.07.056 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100053 ER PT J AU Miyamoto, T Fukushima, J Toyomaki, A Fukushima, K AF Miyamoto, Tamaki Fukushima, Junko Toyomaki, Atsuhito Fukushima, Kikuro TI Cerebral activation during facial expression cognition in autism spectrum disorders (ASDs) SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Miyamoto, Tamaki; Fukushima, Junko; Fukushima, Kikuro] Hokkaido Univ, Fac Hlth Sci, Sapporo, Hokkaido, Japan. [Toyomaki, Atsuhito] Hokkaido Univ, Grad Sch Med, Sapporo, Hokkaido, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E402 EP E402 DI 10.1016/j.neures.2011.07.1761 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218102232 ER PT J AU Nakano, T Kato, N Kitazawa, S AF Nakano, Tamami Kato, Nobumasa Kitazawa, Shigeru TI Superior haptic-to-visual shape perception in adults with autism psectrum disorders SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Nakano, Tamami; Kitazawa, Shigeru] Juntendo Univ, Grad Sch Med, Dep Neurophysiol, Tokyo, Japan. [Kato, Nobumasa] Showa Univ, Dep Psychiat, Tokyo, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E76 EP E76 DI 10.1016/j.neures.2011.07.325 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100323 ER PT J AU Nishijima, I AF Nishijima, Ichiko TI The function of neuropeptide secretin in early postnatal neurogenesis and autism-like phenotypes in mice Ichiko Nishijima SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Nishijima, Ichiko] Tohoku Univ, Grad Sch Med, Environm & Genome Res Ctr, Sendai, Miyagi 980, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E75 EP E75 DI 10.1016/j.neures.2011.07.321 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100319 ER PT J AU Osumi, N AF Osumi, Noriko TI Evaluation of Pax6 mutant rat as a model for autism SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Osumi, Noriko] Tohoku Univ, Grad Sch Med, Div Dev Neurosci, Sendai, Miyagi 980, Japan. CR Maekawa M, 2009, NEUROSCI LETT, V462, P267, DOI 10.1016/j.neulet.2009.07.021 Umeda T, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0015500 NR 2 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E38 EP E38 DI 10.1016/j.neures.2011.07.168 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100165 ER PT J AU Oyabu, A Oyama, T Ujihara, K Eto, M Ohkawara, T Tashiro, Y Narita, M AF Oyabu, Akiko Oyama, Takahiro Ujihara, Kensaku Eto, Michiru Ohkawara, Takeshi Tashiro, Yasura Narita, Masaaki TI Morphological change of dorsal raphe nucleus in rats prenatally exposed to valproic acid: Serotonin neurons in animal models of autism SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Oyabu, Akiko; Oyama, Takahiro; Ujihara, Kensaku; Eto, Michiru; Ohkawara, Takeshi; Tashiro, Yasura; Narita, Masaaki] Mie Univ, Grad Sch Med, Dept Dev & Regenerat Med, Tsu, Mie 514, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E76 EP E76 DI 10.1016/j.neures.2011.07.323 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100321 ER PT J AU Saito, Y Yamasue, H Yahata, N Natsubori, T Aoki, Y Iwashiro, N Takano, Y Kuwabara, H Kawakubo, Y Gonoi, W Sasaki, H Murakami, M Katsura, M Nippashi, Y Takao, H Kunimatsu, A Abe, O Matsuzaki, H Tsuchiya, K Kasai, K AF Saito, Yuki Yamasue, Hidenori Yahata, Noriaki Natsubori, Tatsunobu Aoki, Yuta Iwashiro, Norichika Takano, Yosuke Kuwabara, Hitoshi Kawakubo, Yuki Gonoi, Wataru Sasaki, Hiroki Murakami, Mizuho Katsura, Masaki Nippashi, Yasumasa Takao, Hidemasa Kunimatsu, Akira Abe, Osamu Matsuzaki, Hideo Tsuchiya, Kenji Kasai, Kiyoto TI Neuroanatomical characteristics in autism: A voxel-based morphometric study SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Saito, Yuki; Yamasue, Hidenori; Yahata, Noriaki; Natsubori, Tatsunobu; Aoki, Yuta; Iwashiro, Norichika; Takano, Yosuke; Kasai, Kiyoto] Univ Tokyo, Dept Psych, Tokyo, Japan. [Yamasue, Hidenori] JST, CREST, Tokyo, Japan. [Yahata, Noriaki] Univ Tokyo, GCOE, Tokyo, Japan. [Kuwabara, Hitoshi; Kawakubo, Yuki] Univ Tokyo, Dept Child Psych, Tokyo, Japan. [Gonoi, Wataru; Sasaki, Hiroki; Murakami, Mizuho; Katsura, Masaki; Nippashi, Yasumasa; Takao, Hidemasa; Kunimatsu, Akira; Abe, Osamu] Univ Tokyo, Dept Radiol, Tokyo, Japan. [Matsuzaki, Hideo; Tsuchiya, Kenji] Hamamatsu Univ Sch Med, Osaka Hamamatsu Joint Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E399 EP E399 DI 10.1016/j.neures.2011.07.1751 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218102222 ER PT J AU Torii, M AF Torii, Miyuki TI Weak central coherence and executive dysfunction in children with autism spectrum disorder SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Torii, Miyuki] Kobe Univ, Grad Sch Human Dev & Environm, Kobe, Hyogo 657, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E16 EP E16 DI 10.1016/j.neures.2011.07.063 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100060 ER PT J AU Yamasue, H AF Yamasue, Hidenori TI Neural basis of atypical social cognition in autism SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Yamasue, Hidenori] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo, Japan. [Yamasue, Hidenori] JST, CREST, Tokyo, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E14 EP E15 DI 10.1016/j.neures.2011.07.057 PG 2 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100054 ER PT J AU Yoshida, T Yasumura, M Mishina, M AF Yoshida, Tomoyuki Yasumura, Misato Mishina, Masayoshi TI IL1RAPL1 associated with mental retardation and autism functions as a synaptogenic factor SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Yoshida, Tomoyuki; Yasumura, Misato; Mishina, Masayoshi] Univ Tokyo, Dept Mol Neurobiol & Pharmacol, Grad Sch Med, Tokyo, Japan. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E400 EP E401 DI 10.1016/j.neures.2011.07.1756 PG 2 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218102227 ER PT J AU Young, LJ AF Young, Larry J. TI Molecular neurobiology of social bonding: Implications for novel therapies for autism SO NEUROSCIENCE RESEARCH LA English DT Meeting Abstract C1 [Young, Larry J.] Emory Univ, Dept Psychiat, Atlanta, GA 30322 USA. NR 0 TC 0 Z9 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0168-0102 J9 NEUROSCI RES JI Neurosci. Res. PY 2011 VL 71 SU S BP E13 EP E13 DI 10.1016/j.neures.2011.07.048 PG 1 WC Neurosciences SC Neurosciences & Neurology GA 998DT UT WOS:000308218100045 ER PT J AU Wake, H Fields, RD AF Wake, Hiroaki Fields, R. Douglas TI Physiological function of microglia SO NEURON GLIA BIOLOGY LA English DT Article DE Microglia; neurogenesis; synaptic plasticity; Rett syndrome; autism; chronic pain ID IN-VIVO; CELLS; TERMINALS; SYNAPSES AB Broad interest in the rapidly advancing field of microglial involvement in forming neural circuits is evident from the fresh findings published in leading journals. This special issue of Neuron Glia Biology contains a special collection of research articles and reviews concerning the new appreciation of microglial function in the normal physiology of the brain that extends beyond their traditionally understood role in pathology. C1 [Wake, Hiroaki; Fields, R. Douglas] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Nervous Syst Dev & Plast Sect, Bethesda, MD 20892 USA. RP Wake, H (reprint author), Natl Inst Nat Sci, Natl Inst Basic Biol, Div Brain Circuits, Room 384,Nishigonaka 38, Okazaki, Aichi 4448585, Japan. 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PY 2011 VL 7 IS 1 SI SI BP 1 EP 3 DI 10.1017/S1740925X12000166 PG 3 WC Neurosciences SC Neurosciences & Neurology GA 984FH UT WOS:000307175000001 PM 22857736 ER PT J AU Maezawa, I Calafiore, M Wulff, H Jin, LW AF Maezawa, Izumi Calafiore, Marco Wulff, Heike Jin, Lee-Way TI Does microglial dysfunction play a role in autism and Rett syndrome? SO NEURON GLIA BIOLOGY LA English DT Review DE Synaptic plasticity; epigenetic regulation; MeCP2; environment; mitochondria ID NECROSIS-FACTOR-ALPHA; DEVELOPING RAT-BRAIN; WILD-TYPE MECP2; SPECTRUM DISORDERS; OXIDATIVE STRESS; MOUSE MODEL; IN-VIVO; MITOCHONDRIAL ABNORMALITIES; HISTONE-DEACETYLASE; INFANTILE-AUTISM AB Autism spectrum disorders (ASDs) including classic autism is a group of complex developmental disabilities with core deficits of impaired social interactions, communication difficulties and repetitive behaviors. Although the neurobiology of ASDs has attracted much attention in the last two decades, the role of microglia has been ignored. Existing data are focused on their recognized role in neuroinflammation, which only covers a small part of the pathological repertoire of microglia. This review highlights recent findings on the broader roles of microglia, including their active surveillance of brain microenvironments and regulation of synaptic connectivity, maturation of brain circuitry and neurogenesis. Emerging evidence suggests that microglia respond to pre- and postnatal environmental stimuli through epigenetic interface to change gene expression, thus acting as effectors of experience-dependent synaptic plasticity. Impairments of these microglial functions could substantially contribute to several major etiological factors of autism, such as environmental toxins and cortical underconnectivity. Our recent study on Rett syndrome, a syndromic autistic disorder, provides an example that intrinsic microglial dysfunction due to genetic and epigenetic aberrations could detrimentally affect the developmental trajectory without evoking neuroinflammation. We propose that ASDs provide excellent opportunities to study the influence of microglia on neurodevelopment, and this knowledge could lead to novel therapies. C1 [Maezawa, Izumi; Calafiore, Marco; Jin, Lee-Way] Univ Calif Davis, Med Ctr, Dept Pathol & Lab Med, Sacramento, CA 95817 USA. [Maezawa, Izumi; Calafiore, Marco; Jin, Lee-Way] MIND Med Invest Neurodev Disorders Inst, Sacramento, CA USA. [Wulff, Heike] Univ Calif Davis, Dept Pharmacol, Sacramento, CA 95817 USA. [Jin, Lee-Way] Univ Calif Davis, Med Ctr, Alzheimers Dis Ctr, Sacramento, CA 95817 USA. RP Maezawa, I (reprint author), Univ Calif Davis, Med Ctr, Dept Pathol & Lab Med, Sacramento, CA 95817 USA. EM imaezawa@ucdavis.edu; lee-way.jin@ucdmc.ucdavis.edu FU National Institute of Health [HD064817]; University of California Davis M.I.N.D. Institute FX This work is supported by grants from the National Institute of Health (HD064817) and the University of California Davis M.I.N.D. Institute. 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PY 2011 VL 7 IS 1 SI SI BP 85 EP 97 DI 10.1017/S1740925X1200004X PG 13 WC Neurosciences SC Neurosciences & Neurology GA 984FH UT WOS:000307175000010 PM 22717189 ER PT J AU Albar, J AF Albar, Javier TI Engraving workshops with no toxic techniques for disabled adolescent and children SO ARTE INDIVIDUO Y SOCIEDAD LA Spanish DT Article DE No toxic engraving; disability; workshop AB This article present an experience in special education with no toxic engraving Techniques. The experience has been made with adolescent and children of different age with physical and intellectual disabilities, Down's Sindrome and Autism. The experience took place in Disability School Villa San Jose de La Union, Region de Los Rios, Chile. C1 Univ Complutense Madrid, E-28040 Madrid, Spain. RP Albar, J (reprint author), Univ Complutense Madrid, E-28040 Madrid, Spain. EM albarmansoa@yahoo.es CR Albar J., 2010, THESIS U COMPLUTENSE NR 1 TC 0 Z9 0 PU UNIV COMPLUTENSE MADRID, SERVICIO PUBLICACIONES PI MADRID PA CIUDAD UNIV, OBISPO TREJO 3, MADRID, 28040, SPAIN SN 1988-2408 J9 ARTE INDIVIDUO SOC JI Arte Individuo Soc. PY 2011 VL 23 SI SI BP 69 EP 75 DI 10.5209/rev_ARIS.2011.v23.36744 PG 7 WC Art SC Art GA 960KR UT WOS:000305387100006 ER PT J AU Preti, A Vellante, M Baron-Cohen, S Zucca, G Petretto, DR Masala, C AF Preti, Antonio Vellante, Marcello Baron-Cohen, Simon Zucca, Giulia Petretto, Donatella Rita Masala, Carmelo TI The Empathy Quotient: A cross-cultural comparison of the Italian version SO COGNITIVE NEUROPSYCHIATRY LA English DT Article DE Autism spectrum disorder; Delusion; Empathy; Hallucination; Reliability; Sex differences; Social cognition ID TORONTO-ALEXITHYMIA-SCALE; AL. DELUSIONS INVENTORY; MIRROR-NEURON SYSTEM; SOCIAL DESIRABILITY; SEX-DIFFERENCES; HALLUCINATORY PREDISPOSITION; HYPOMANIC PERSONALITY; BIPOLAR DISORDER; AUTISM; SCHIZOPHRENIA AB Introduction. The Empathy Quotient (EQ) is a self-report questionnaire that was developed to measure the cognitive, affective, and behavioural aspects of empathy. We evaluated its cross-cultural validity in an Italian sample. Methods. A sample of 18- to 30-year-old undergraduate students of both sexes (N = 256, males = 118) were invited to fill in the Italian version of the EQ, as well as other measures of emotional competence and psychological distress. Results. The EQ had an excellent reliability (Cronbach's alpha = .79; test-retest at 1 month: Pearson's r = .85), and was normally distributed. Females scored higher than males, and more males (n = 14, 11.9%) than females (n = 4, 2.9%) scored lower than 30, the cutoff score that best differentiates autism spectrum conditions from controls. EQ was negatively related to the Toronto Alexithymia Scale (TAS) and positively related to the Marlowe-Crowne Social Desirability Scale (SDS). Principal component analysis retrieved the three-factor structure of the EQ. Lower emotional reactivity correlated with higher scores in measures of risk in both the schizophrenia-like (Peters et al. Delusions Inventory) and the bipolar (Hypomanic Personality Scale) spectra. Conclusions. The Italian version of the EQ has good validity, with an acceptable replication of the original three-factor solution, yielding three subscales with high internal and test-retest reliability. C1 [Preti, Antonio] Ctr Med Genneruxi, I-09129 Cagliari, Italy. [Preti, Antonio; Vellante, Marcello; Zucca, Giulia; Petretto, Donatella Rita; Masala, Carmelo] Univ Cagliari, Dept Psychol, Cagliari, Italy. [Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England. 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TI Theory of mind and paranoia in schizophrenia: A game theoretical investigation framework SO COGNITIVE NEUROPSYCHIATRY LA English DT Article DE Cooperation; Game theory; Paranoia; Schizophrenia; Theory of mind ID THEORY-OF-MIND; HIGH-FUNCTIONING AUTISM; SOCIAL COGNITION; PERSECUTORY DELUSIONS; 1ST-EPISODE SCHIZOPHRENIA; INTENTIONAL MOVEMENT; ASPERGER-SYNDROME; DECISION-MAKING; PEOPLE; PSYCHOSIS AB Introduction. Ample evidence already shows that theory of mind (ToM) is impaired in people with schizophrenia. Our aim was to critically review this literature. Method. We completed a selected review of the research literature on ToM in schizophrenia. Results. Gaps in ToM research were identified. A specific relationship between impaired ToM and paranoid delusions, although intuitively reasonable from a theoretical basis, has only been demonstrated in a few studies. Psychometric properties of ToM tasks employed in these studies may be a confounding factor in drawing conclusions about the relationship. Because most ToM measures have focused on the third-person perspective, participants are not actively interacting. The tasks fail to capture the cognitive demands faced by individuals in real-life situations, and, in effect, are not a direct measure of ToM. Conclusions. Potential research areas are discussed. Since game theoretical paradigms require the direct involvement of the first person and situate the participant's interpersonal reasoning within an interactive context, they provide more ecologically valid experimental platforms than conventional questionnaire measures to assess ToM in schizophrenia research. C1 [Chan, Kevin K. S.; Chen, Eric Y. H.] Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China. [Chan, Kevin K. S.] Chinese Univ Hong Kong, Dept Psychol, Hong Kong, Hong Kong, Peoples R China. RP Chen, EYH (reprint author), Univ Hong Kong, Queen Mary Hosp, Dept Psychiat, 102 Pokfulam Rd, Hong Kong, Hong Kong, Peoples R China. 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Neuropsychiatry PY 2011 VL 16 IS 6 BP 505 EP 529 DI 10.1080/13546805.2011.561576 PG 25 WC Psychiatry SC Psychiatry GA 945DS UT WOS:000304253600002 PM 21563010 ER PT J AU Sinha, Y Silove, N Hayen, A Williams, K AF Sinha, Yashwant Silove, Natalie Hayen, Andrew Williams, Katrina TI Auditory integration training and other sound therapies for autism spectrum disorders (ASD) SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review DE Acoustic Stimulation [methods]; Autistic Disorder [therapy]; Randomized Controlled Trials as Topic; Adult; Child; Humans ID DIAGNOSTIC INTERVIEW; BEHAVIOR CHECKLIST; CHILDREN; INDIVIDUALS; LANGUAGE; PILOT; ADOLESCENTS AB Background Auditory integration therapy was developed as a technique for improving abnormal sound sensitivity in individuals with behavioural disorders including autism spectrum disorders. Other sound therapies bearing similarities to auditory integration therapy include the Tomatis Method and Samonas Sound Therapy. Objectives To determine the effectiveness of auditory integration therapy or other methods of sound therapy in individuals with autism spectrum disorders. Search methods For this update, we searched the following databases in September 2010: CENTRAL (2010, Issue 2), MEDLINE (1950 to September week 2, 2010), EMBASE (1980 to Week 38, 2010), CINAHL (1937 to current), PsycINFO (1887 to current), ERIC (1966 to current), LILACS (September 2010) and the reference lists of published papers. One new study was found for inclusion. Selection criteria Randomised controlled trials involving adults or children with autism spectrum disorders. Treatment was auditory integration therapy or other sound therapies involving listening to music modified by filtering and modulation. Control groups could involve no treatment, a waiting list, usual therapy or a placebo equivalent. The outcomes were changes in core and associated features of autism spectrum disorders, auditory processing, quality of life and adverse events. Data collection and analysis Two independent review authors performed data extraction. All outcome data in the included papers were continuous. We calculated point estimates and standard errors from t-test scores and post-intervention means. Meta-analysis was inappropriate for the available data. Main results We identified six randomised comtrolled trials of auditory integration therapy and one of Tomatis therapy, involving a total of 182 individuals aged three to 39 years. Two were cross-over trials. Five trials had fewer than 20 participants. Allocation concealment was inadequate for all studies. Twenty different outcome measures were used and only two outcomes were used by three or more studies. Meta-analysis was not possible due to very high heterogeneity or the presentation of data in unusable forms. Three studies (Bettison 1996; Zollweg 1997; Mudford 2000) did not demonstrate any benefit of auditory integration therapy over control conditions. Three studies (Veale 1993; Rimland 1995; Edelson 1999) reported improvements at three months for the auditory integration therapy group based on the Aberrant Behaviour Checklist, but they used a total score rather than subgroup scores, which is of questionable validity, and Veale's results did not reach statistical significance. Rimland 1995 also reported improvements at three months in the auditory integration therapy group for the Aberrant Behaviour Checklist subgroup scores. The study addressing Tomatis therapy (Corbett 2008) described an improvement in language with no difference between treatment and control conditions and did not report on the behavioural outcomes that were used in the auditory integration therapy trials. C1 [Sinha, Yashwant] Childrens Hosp Westmead, Ctr Kidney Res, Westmead, NSW 2145, Australia. [Silove, Natalie] Childrens Hosp Westmead, Child Dev Unit, Westmead, NSW 2145, Australia. [Hayen, Andrew] Univ Sydney, Sydney Sch Publ Hlth, STEP, Sydney, NSW 2006, Australia. [Williams, Katrina] Royal Childrens Hosp, Melbourne, Vic, Australia. RP Sinha, Y (reprint author), Childrens Hosp Westmead, Ctr Kidney Res, Locked Bag 4001, Westmead, NSW 2145, Australia. 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PY 2011 IS 12 AR CD003681 DI 10.1002/14651858.CD003681.pub3 PG 46 WC Medicine, General & Internal SC General & Internal Medicine GA 901BV UT WOS:000300937600021 PM 22161380 ER PT J AU Bauer, SC Msall, ME AF Bauer, Sarah C. Msall, Michael E. TI GENETIC TESTING FOR AUTISM SPECTRUM DISORDERS SO DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS LA English DT Review DE autism; autism spectrum disorders; Asperger syndrome; pervasive developmental disorder; genetic testing; genetic etiology; comparative genomic hybridization; chromosomal microarray; karyotype ID QUALITY STANDARDS SUBCOMMITTEE; CHILD NEUROLOGY SOCIETY; DEVELOPMENTAL DELAY; MENTAL-RETARDATION; AMERICAN ACADEMY; DIAGNOSIS AB Children with autism spectrum disorders (ASD) have unique developmental and behavioral phenotypes, and they have specific challenges with communication, social skills, and repetitive behaviors. At this time, no single etiology for ASD has been identified. However, evidence from family studies and linkage analyses suggests that genetic factors play a pivotal role in the etiology of ASD. However, ASD appear to be influenced by complex genetic and environmental factors, and evidence suggests that this is not a single gene disorder. In particular, ASD has a complex behavioral phenotype, and this variation reflects complex genotypes under the influence of external factors. With these considerations in mind, it is important to recognize that genetic testing is a vital component of the diagnostic evaluation of children with ASD. For example, children with ASD who have definitive etiologies may be able to access more specific resources, they may be spared long, emotionally and financially exhausting diagnostic journeys, and associated medical conditions and comorbidities can be managed proactively. Most importantly, children with disabilities of unknown origin should have an ongoing evaluation of potential etiologies for their symptoms (Crocker, 1987). Our purpose is to describe current trends in genetic testing for ASD, potential genetic etiologies of ASD, known genetic disorders associated with ASD, and recommendations for genetic testing in ASD. We will also emphasize the importance of access to informed health professionals, especially in the contexts of stigma and community supports. (C)2012 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:3-8. C1 [Bauer, Sarah C.] Northwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Dept Pediat, Chicago, IL 60614 USA. [Msall, Michael E.] Univ Chicago, Comer Childrens Hosp, Sect Dev & Behav Pediat, Kennedy Res Ctr Intellectual & Dev Disabil, Chicago, IL 60637 USA. RP Bauer, SC (reprint author), Northwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Dept Pediat, 2300 Childrens Plaza,Box 16, Chicago, IL 60614 USA. EM SBauer@childrensmemorial.org FU Leadership Education in Neurodevelopmental and Related Disorders Training Program (LEND) [T73MC11047-01-00HRSA]; NIH/NICHD s J.P Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) [P30 HD 054276] FX Dr. Msall and Dr. Bauer were supported in part by T73MC11047-01-00HRSA Leadership Education in Neurodevelopmental and Related Disorders Training Program (LEND) and through NIH/NICHD P30 HD 054276 s J.P Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC). 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Rev. Anthropol. PY 2011 VL 40 BP 257 EP 273 DI 10.1146/annurev-anthro-081309-145722 PG 17 WC Anthropology SC Anthropology GA BYM85 UT WOS:000299376200018 ER PT S AU van Bokhoven, H AF van Bokhoven, Hans BE Bassler, BL Lichten, M Schupbach, G TI Genetic and Epigenetic Networks in Intellectual Disabilities SO ANNUAL REVIEW GENETICS, VOL 45 SE Annual Review of Genetics LA English DT Review; Book Chapter DE synaptic plasticity; chromatin modification; mental retardation; autism; cytoskeleton; therapy ID LINKED MENTAL-RETARDATION; FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDERS; PITT-HOPKINS-SYNDROME; DE-NOVO MUTATIONS; SCAFFOLDING PROTEIN SHANK3; REGULATES MEMORY FORMATION; RUBINSTEIN-TAYBI-SYNDROME; TERM SYNAPTIC PLASTICITY; MOUSE MODEL AB Mutations in more than 450 different genes have been associated with intellectual disability (ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this number will increase three to four-fold in the next years due to the rapid implementation of innovative high-throughput sequencing technology in genetics labs. Numerous functional relationships have been identified between the products of individual ID genes, and common molecular and cellular pathways onto which these networks converge are beginning to emerge. Prominent examples are genes involved in synaptic plasticity, Ras and Rho GTPase signaling, and epigenetic genes that encode modifiers of the chromatin structure. It thus seems that there might be common pathological patterns in ID, despite its bewildering genetic heterogeneity. These common pathways provide attractive opportunities for knowledge-based therapeutic interventions. C1 [van Bokhoven, Hans] Radboud Univ Nijmegen, Nijmegen Med Ctr, Mol Neurogenet Unit, Dept Human Genet,Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands. [van Bokhoven, Hans] Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands. RP van Bokhoven, H (reprint author), Radboud Univ Nijmegen, Nijmegen Med Ctr, Mol Neurogenet Unit, Dept Human Genet,Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands. 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Rev. Genet. PY 2011 VL 45 BP 81 EP 104 DI 10.1146/annurev-genet-110410-132512 PG 24 WC Genetics & Heredity SC Genetics & Heredity GA BYM12 UT WOS:000299299600005 PM 21910631 ER PT S AU Girirajan, S Campbell, CD Eichler, EE AF Girirajan, Santhosh Campbell, Catarina D. Eichler, Evan E. BE Bassler, BL Lichten, M Schupbach, G TI Human Copy Number Variation and Complex Genetic Disease SO ANNUAL REVIEW GENETICS, VOL 45 SE Annual Review of Genetics LA English DT Review; Book Chapter DE copy number variant; segmental duplication; complex disease; microdeletions; microduplications; array-CGH ID SPINAL MUSCULAR-ATROPHY; GENOTYPE-PHENOTYPE CORRELATION; RARE STRUCTURAL VARIANTS; SMITH-MAGENIS-SYNDROME; HUMAN GENOME; SEGMENTAL DUPLICATIONS; MICRODELETION SYNDROME; DELETION POLYMORPHISM; MENTAL-RETARDATION; CLINICAL SPECTRUM AB Copy number variants (CNVs) play an important role in human disease and population diversity. Advancements in technology have allowed for the analysis of CNVs in thousands of individuals with disease in addition to thousands of controls. These studies have identified rare CNVs associated with neuropsychiatric diseases such as autism, schizophrenia, and intellectual disability. In addition, copy number polymorphisms (CNPs) are present at higher frequencies in the population, show high diversity in copy number, sequence, and structure, and have been associated with multiple phenotypes, primarily related to immune or environmental response. However, the landscape of copy number variation still remains largely unexplored, especially for smaller CNVs and those embedded within complex regions of the human genome. An integrated approach including characterization of single nucleotide variants and CNVs in a large number of individuals with disease and normal genomes holds the promise of thoroughly elucidating the genetic basis of human disease and diversity. 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I started in immunology in London with Avrion Mitchison, using antibodies against cell-surface antigens to study the development and functions of mouse T and B cells. The finding that antibody binding causes immunoglobulin on B cells to redistribute rapidly on the cell surface and be endocytosed transformed me from an immunologist into a cell biologist. I moved with Mitchison to University College London, where my colleagues and I used the antibody approach to study cells of the rodent nervous system, focusing on the intrinsic and extrinsic molecular mechanisms that control the development and behavior of myelinating glial cells-Schwann cells and oligodendrocytes. I retired from active research in 2002 and now spend much of my time on scientific advisory boards and thinking about autism. C1 UCL, MRC, Mol Cell Biol Lab, London WC1E 6BT, England. RP Raff, M (reprint author), UCL, MRC, Mol Cell Biol Lab, Mortimer St, London WC1E 6BT, England. 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Mutations in the MeCP2 gene were later found to be the cause of an autism spectrum disorder, Rett syndrome. Despite almost 20 years of research into the molecular mechanisms of MeCP2 function, many questions are yet to be answered conclusively. This review considers several key questions and attempts to evaluate the current state of evidence. For example, is MeCP2 just a methyl-CpG binding protein? Is it a multifunctional protein or primarily a transcriptional repressor? We also consider whether MeCP2, as a chromosome-binding protein, acts at specific sites within the genome or more globally, and in which cell types it is functionally important. Finally, we consider two alternative views of MeCP2 in the brain: as a regulator of brain development or as a factor that helps maintain neuronal/glial function. C1 [Guy, Jacky; Cheval, Helene; Selfridge, Jim; Bird, Adrian] Univ Edinburgh, Wellcome Trust Ctr Cell Biol, Edinburgh EH9 3JR, Midlothian, Scotland. 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Rev. Cell Dev.Biol. PY 2011 VL 27 BP 631 EP 652 DI 10.1146/annurev-cellbio-092910-154121 PG 22 WC Cell Biology; Developmental Biology SC Cell Biology; Developmental Biology GA BYL23 UT WOS:000299230700025 PM 21721946 ER PT J AU James, S Montgomery, P Williams, K AF James, Stephen Montgomery, Paul Williams, Katrina TI Omega-3 fatty acids supplementation for autism spectrum disorders (ASD) SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review ID ESSENTIAL FATTY-ACIDS; DOUBLE-BLIND; ETHYL-EICOSAPENTAENOATE; DEPRESSIVE DISORDER; CONTROLLED-TRIAL; CHILDREN; PREVALENCE; ADHD; SYMPTOMS; RATIO AB Background It has been suggested that impairments associated with autism spectrum disorders (ASD) may be partially explained by deficits of omega-3 fatty acids, and that supplementation of these essential fatty acids may lead to improvement of symptoms. Objectives To review the efficacy of omega-3 fatty acids for improving core features of ASD (for example, social interaction, communication, and stereotypies) and associated symptoms. Search strategy We searched the following databases on 2 June 2010: CENTRAL (2010, Issue 2), MEDLINE (1950 to May Week 3 2010), EMBASE (1980 to 2010 Week 21), PsycINFO (1806 to current), BIOSIS (1985 to current), CINAHL (1982 to current), Science Citation Index (1970 to current), Social Science Citation Index (1970 to current), metaRegister of Controlled Trials (20 November 2008) and ClinicalTrials.gov (10 December 2010). Dissertation Abstracts International was searched on 10 December 2008, but was no longer available to the authors or editorial base in 2010. Selection criteria All randomised controlled trials of omega-3 fatty acids supplementation compared to placebo in individuals with ASD. Data collection and analysis Three authors independently selected studies, assessed them for risk of bias and extracted relevant data. We conducted meta-analysis of the included studies for three primary outcomes (social interaction, communication, and stereotypy) and one secondary outcome (hyperactivity). Main results We included two trials with a total of 37 children diagnosed with ASD who were randomised into groups that received either omega-3 fatty acids supplementation or a placebo. We excluded six trials because they were either non-randomised controlled trials, did not contain a control group, or the control group did not receive a placebo. Overall, there was no evidence that omega-3 supplements had an effect on social interaction (mean difference (MD) 0.82, 95% confidence interval (CI) -2.84 to 4.48, I-2 = 0%), communication (MD 0.62, 95% CI -0.89 to 2.14, I-2 = 0%), stereotypy (MD 0.77, 95% CI -0.69 to 2.22, I-2 = 8%), or hyperactivity (MD 3.46, 95% CI -0.79 to 7.70, I-2 = 0%). Authors' conclusions To date there is no high quality evidence that omega-3 fatty acids supplementation is effective for improving core and associated symptoms of ASD. Given the paucity of rigorous studies in this area, there is a need for large well-conducted randomised controlled trials that examine both high and low functioning individuals with ASD, and that have longer follow-up periods. C1 [James, Stephen; Montgomery, Paul] Univ Oxford, Ctr Evidence Based Intervent, Oxford OX1 2ER, England. [Williams, Katrina] Royal Childrens Hosp, Melbourne, Vic, Australia. RP James, S (reprint author), Univ Oxford, Ctr Evidence Based Intervent, Barnett House,32 Wellington Sq, Oxford OX1 2ER, England. 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PY 2011 IS 11 AR CD007992 DI 10.1002/14651858.CD007992.pub2 PG 35 WC Medicine, General & Internal SC General & Internal Medicine GA 846BH UT WOS:000296871700043 PM 22071839 ER PT J AU Kapp, L Brown, O AF Kapp, Leche Brown, Ottilia TI Resilience in Families Adapting to Autism Spectrum Disorder SO JOURNAL OF PSYCHOLOGY IN AFRICA LA English DT Article DE Autism Spectrum Disorder; resilience; family resilience; Resiliency Model of Stress; Adjustment and Adaptation ID CHILDREN AB This study explored adjustment and adaptation in families living with Autism Spectrum Disorder (ASD). Data on family resilience were collected from 19 biological mothers of children with ADS. The data were analysed qualitatively and quantitatively to yield information on factors that enable these families to bounce back from the diagnosis and accompanying challenges with regard to ADS. The findings from the qualitative analysis indicate that social support, the spousal relationship, and family time, togetherness and routines are the most important resilience-promoting factors with ASD. Family hardiness, family problem-solving communication, and family time and routines were significant resilience resources. C1 [Kapp, Leche] Nelson Mandela Metropolitan Univ, Career & Dev Ctr, ZA-6031 Port Elizabeth, South Africa. RP Kapp, L (reprint author), Nelson Mandela Metropolitan Univ, Career & Dev Ctr, South Campus,POB 77000, ZA-6031 Port Elizabeth, South Africa. 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PY 2011 VL 21 IS 3 BP 459 EP 463 PG 5 WC Psychology, Multidisciplinary SC Psychology GA 850ZJ UT WOS:000297237800018 ER PT S AU Hartley, SL Seltzer, MM Barker, ET Greenberg, JS AF Hartley, Sigan L. Seltzer, Marsha Mailick Barker, Erin T. Greenberg, Jan S. BE Hodapp, RM TI MARITAL QUALITY AND FAMILIES OF CHILDREN WITH DEVELOPMENTAL DISABILITIES SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 41 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID MENTALLY-RETARDED CHILD; DOWN-SYNDROME; BEHAVIOR PROBLEMS; PARENTING STRESS; YOUNG-CHILDREN; UNITED-STATES; AUTISM; MOTHERS; ADJUSTMENT; DISORDERS AB In the current review, we highlight recent research on marital quality in parents of children with developmental disabilities (DD) and discuss the child and family factors that account for why some marriages fare better than others. We will also discuss the need for the field of DD to broaden its perspective on marital quality and to examine the impact of marriages on child well-being and the well-being of parents. The clinical implications of recent research findings on marital quality for improving supports and interventions for families of children with DD are discussed. A theoretical framework and model of marriage and parent and child psychosocial well-being in the context of child disability is proposed and a roadmap for future research is provided. C1 [Hartley, Sigan L.; Seltzer, Marsha Mailick; Greenberg, Jan S.] Univ Wisconsin Madison, Waisman Ctr, Madison, WI 53706 USA. [Hartley, Sigan L.] Univ Wisconsin Madison, Dept Human Dev & Family Studies, Madison, WI USA. [Seltzer, Marsha Mailick; Greenberg, Jan S.] Univ Wisconsin Madison, Sch Social Work, Madison, WI USA. [Barker, Erin T.] Concordia Univ, Dept Psychol, Montreal, PQ H3G 1M8, Canada. 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Radford-Paz, Elisa BE Hodapp, RM TI "DIAGNOSE ME PLEASE!": A REVIEW OF RESEARCH ABOUT THE JOURNEY AND INITIAL IMPACT OF PARENTS SEEKING A DIAGNOSIS OF DEVELOPMENTAL DISABILITY FOR THEIR CHILD SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 41 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID AUTISM SPECTRUM DISORDER; FRAGILE-X-SYNDROME; MENTALLY-RETARDED CHILDREN; DOWN-SYNDROME ADVANTAGE; HANDICAPPED-CHILD; CEREBRAL-PALSY; DEFECTIVE CHILD; INTELLECTUAL DISABILITY; PRESCHOOL-CHILDREN; MOTHERS RESOLUTION AB This chapter provides a synthesis of research related to the experience of parents when pursuing and receiving a diagnosis of a developmental disability for their child. How a family perceives this discrete period of time and how they initially react to having a child diagnosed with a disability are important events and involve the direct interaction of the family with a larger community system of professionals. Obtaining a specific diagnosis has the potential to afford many benefits, including access to appropriate interventions, knowledge regarding learning challenges and strengths, and information regarding medical or mental health risks and resiliencies. However, the diagnostic process is rarely a positive experience for families and might therefore contribute to the stress felt by families of children with disabilities. Furthermore, the diagnostic process itself may vary depending on the specific disability and have diverse impacts on families. The chapter concludes with recommendations for future research. C1 [Watson, Shelley L.; Hayes, Stephanie A.; Radford-Paz, Elisa] Laurentian Univ, Sudbury, ON P3E 2C6, Canada. 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PY 2011 VL 41 BP 31 EP 71 DI 10.1016/B978-0-12-386495-6.00002-3 PG 41 WC Education, Special; Psychology, Multidisciplinary; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA BXD49 UT WOS:000295816300002 ER PT S AU Blacher, J Begum, G AF Blacher, Jan Begum, Gazi BE Hodapp, RM TI SIBLING RELATIONSHIP QUALITY AND ADJUSTMENT: CONSIDERATIONS OF FAMILY, GENETICS, CULTURAL EXPECTATIONS AND DISABILITY TYPE SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 41 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID MENTALLY-RETARDED CHILDREN; AUTISM SPECTRUM DISORDER; INTELLECTUAL DISABILITY; DEVELOPMENTAL-DISABILITIES; BEHAVIOR PROBLEMS; YOUNG-CHILDREN; DOWN-SYNDROME; LATINO FAMILIES; EMOTIONAL ADJUSTMENT; SYNDROME SPECIFICITY AB Much of the extant literature on siblings and developmental disability fails to take into account methodological variations, syndrome specific characteristics of a disorder, or constellation variables (such as gender or birth order). In addition, the target child is usually the typically developing sibling; little consideration has been given to the impact of a typically developing child on the brother or sister with a disability. In this chapter, we review research related to the development of sibling relationship quality and identify factors that impact sibling outcomes, such as social skills or behavior, for both siblings without disabilities and those with intellectual disability (ID) or neuro-developmental disorders such as autism. In doing so, we propose a conceptual model that considers main effects and moderators (such as genetic influences, family functioning, or cultural expectations) of the target child's adjustment. C1 [Blacher, Jan; Begum, Gazi] Univ Calif Riverside, Riverside, CA 92521 USA. RP Blacher, J (reprint author), Univ Calif Riverside, Riverside, CA 92521 USA. 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BE Hodapp, RM TI MUSICAL INTERESTS AND ABILITIES IN INDIVIDUALS WITH DEVELOPMENTAL DISABILITIES SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 41 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID AUTISM SPECTRUM DISORDERS; WILLIAMS-SYNDROME; ABSOLUTE PITCH; DOWNS-SYNDROME; COGNITIVE NEUROSCIENCE; CONGENITAL AMUSIA; SPLINTER SKILLS; NORMAL-CHILDREN; HESCHLS GYRUS; BLOCK DESIGN AB This chapter reviews studies of musicality in individuals with Williams syndrome, Down syndrome, and autism spectrum disorders. Music can be used to assess a wide range of perceptual, cognitive, motor, and affective processes. We discuss how the study of musicality contributes to our understanding of each of these syndromes, drawing connections to the underling neurobiology when possible. After consideration of the methodological limitations of previous studies, we make suggestions for future areas of research within this field. Research into musicality in these developmental disorders can contribute to overarching questions about music, including domain general versus domain-specific mechanisms, development of musical interest and skill, and musical enculturation. Implications for understanding both typical and atypical development are discussed. C1 [Lense, Miriam D.; Dykens, Elisabeth M.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA. RP Lense, MD (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, Peabody Box 40, Nashville, TN 37203 USA. 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Fifty AS boys from Slovakia in the range from 6 to 18 years participated in the research. The control group consisted of 79 age/sex-matched boys from primary and grammar schools. Participants were divided into a prepubertal and pubertal group. The measures of empathizing/systemizing as well as additional measures (intuitive physics and folk psychology) were used. The group of AS boys scored lower in empathizing measures compared to the control boys. The prepubertal AS group was more systemized than their control peers. Salivary testosterone levels were lower in AS group. The study found positive correlation between salivary testosterone and folk psychology, and revealed a negative correlation between salivary testosterone and intuitive physics in pubertal boys. These findings are discussed with reference to the "extreme male-brain" theory of autism. C1 [Krajmer, Peter; Ostatnikova, Daniela] Comenius Univ, Fac Med, Inst Physiol, Bratislava 81372, Slovakia. [Spajdel, Marian] Univ Trnava, Fac Arts, Dept Psychol, Trnava, Slovakia. [Spajdel, Marian] Slovak Acad Sci, Inst Normal & Pathol Physiol, Bratislava, Slovakia. [Celec, Peter] Comenius Univ, Fac Med, Inst Mol Biomed, Bratislava 81372, Slovakia. [Celec, Peter] Comenius Univ, Fac Med, Dept Mol Biol, Bratislava 81372, Slovakia. [Celec, Peter] Comenius Univ, Fac Med, Inst Pathophysiol, Bratislava 81372, Slovakia. RP Krajmer, P (reprint author), Comenius Univ, Fac Med, Inst Physiol, Sasinkova 2, Bratislava 81372, Slovakia. 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PY 2011 VL 53 IS 3 BP 293 EP 305 PG 13 WC Psychology, Multidisciplinary SC Psychology GA 848VE UT WOS:000297082400006 ER PT J AU van Rijn, H Visser, FS Stappers, PJ Ozakar, AD AF van Rijn, Helma Visser, Froukje Sleeswijk Stappers, Pieter Jan Ozakar, Asli Deniz TI Achieving empathy with users: the effects of different sources of information SO CODESIGN-INTERNATIONAL JOURNAL OF COCREATION IN DESIGN AND THE ARTS LA English DT Article DE empathy; information sources; direct contact; ideation ID DESIGN AB This paper describes a comparative study, which explores the influence of different sources of information on design sessions aiming for product concepts for children with autism. Six design teams were informed about children with autism under three conditions: A teams had only background information, B teams had background information and direct contact, and C teams had background information plus a video. Each team conducted a design session resulting in one product concept. These sessions were videotaped, transcribed and analysed for signs of empathy. The proposed product concepts were evaluated by parents and teachers of the children. Results show that the two B teams discussed the user group most intensively, and produced concepts that fitted the user group best. The two A teams made many false assumptions about the user group. One C team discussed the user group intensively and produced a product concept appreciated by caregivers, while the other C team did the opposite. The latter team was not motivated for the session. The results indicate that, and show examples of how, direct contact brings empathy with users to design teams and positively influences the quality of the product concepts they produce. Willingness and motivation of designers are key factors in empathic design. C1 [van Rijn, Helma; Visser, Froukje Sleeswijk; Stappers, Pieter Jan; Ozakar, Asli Deniz] Delft Univ Technol, Fac Ind Design Engn, ID StudioLab, Delft, Netherlands. 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TI The brain opioid theory of social attachment: a review of the evidence SO BEHAVIOUR LA English DT Review DE endogenous opioid system; beta-endorphin; OPRM1; prosociality; relationships ID BORDERLINE PERSONALITY-DISORDER; IMMUNOREACTIVE BETA-ENDORPHIN; CONNECTIVE-TISSUE MASSAGE; YOUNG AUTISTIC-CHILDREN; RECEPTOR GENE OPRM1; MU-OPIATE RECEPTOR; ENDOGENOUS OPIOIDS; MATERNAL-BEHAVIOR; INFANTILE-AUTISM; SEPARATION-DISTRESS AB The psychology of close human relationships is increasingly well understood and our understanding of the neurobiology of the onset of pairbonding behaviour in a range of species has benefited from the use of rodent-based models. However, the human literature has suffered from a lack of focus upon the unique nature of primate social bonds and has so far failed to adequately identify the neurobiological and behavioural mechanisms which maintain these complex, diverse and enduring social networks. One neurobiological mechanism that has been overlooked is the endogenous opioid system. Though less explicitly researched than the more familiar oxytocin/vasopressin system, there is considerable evidence that the opioids play a fundamental role in sociality, especially in the primates. This review summarises our current understanding of the evidence for the role of this system in prosocial behaviour in non-primate mammals, nonhuman primates and humans. An important conclusion is that the opioid system may play a more central role in sociality in primates (including humans) than in other mammalian taxa. C1 [Machin, A. J.; Dunbar, R. I. M.] Univ Oxford, Inst Cognit & Evolutionary Anthropol, Oxford, England. RP Machin, AJ (reprint author), Univ Oxford, Inst Cognit & Evolutionary Anthropol, Oxford, England. EM amachin@claranet.co.uk FU British Academy Centenary Research Project FX This research was supported by the British Academy Centenary Research Project. 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Sze, Sophia L. Cheung, Mei-Chun Han, Yvonne M. Y. Leung, Winnie W. M. Shi, Dejian TI Dejian Mind-Body Intervention Improves the Cognitive Functions of a Child with Autism SO EVIDENCE-BASED COMPLEMENTARY AND ALTERNATIVE MEDICINE LA English DT Article ID SPECTRUM DISORDERS; BEHAVIORAL TREATMENTS; SOCIAL-INTERACTION; YOUNG-CHILDREN; METHODOLOGY; LANGUAGE AB There has been increasing empirical evidence for the enhancing effects of Dejian Mind-Body Intervention (DMBI), a traditional Chinese Shaolin healing approach, on human frontal brain activity/functions, including patients with autism who are well documented to have frontal lobe problems. This study aims to compare the effects of DMBI with a conventional behavioural/cognitive intervention (CI) on enhancing the executive functions and memory of a nine-year-old boy with low-functioning autism (KY) and to explore possible underlying neural mechanism using EEG theta cordance. At post-one-month DMBI, KY's inhibitory control, cognitive flexibility, and memory functioning have significantly improved from "severely-to-moderately impaired" to "within-normal" range. This improvement was not observed from previous 12-month CI. Furthermore, KY showed increased cordance gradually extending from the anterior to the posterior brain region, suggesting possible neural mechanism underlying his cognitive improvement. These findings have implicated potential applicability of DMBI as a rehabilitation program for patients with severe frontal lobe and/or memory disorders. C1 [Chan, Agnes S.; Sze, Sophia L.; Han, Yvonne M. Y.; Leung, Winnie W. M.] Chinese Univ Hong Kong, Neuropsychol Lab, Dept Psychol, Shatin, Hong Kong, Peoples R China. [Chan, Agnes S.; Shi, Dejian] Henan Songshan Res Inst Chanwuyi, Chanwuyi 452470, Henan, Peoples R China. [Cheung, Mei-Chun] Hong Kong Polytech Univ, Inst Text & Clothing, Kowloon, Hong Kong, Peoples R China. [Han, Yvonne M. Y.] Hong Kong Inst Educ, Dept Special Educ & Counselling, Tai Po, Hong Kong, Peoples R China. RP Chan, AS (reprint author), Chinese Univ Hong Kong, Neuropsychol Lab, Dept Psychol, Shatin, Hong Kong, Peoples R China. EM aschan@psy.cuhk.edu.hk FU Hong Kong Polytechnic University [J-BB6S] FX The authors are especially thankful to KY's parents for their permission to publish their son's case and their provision of his details. This paper was supported by a donation from Sau Hung Li to The Chinese University of Hong Kong and the Niche Areas Funding (J-BB6S) from the Hong Kong Polytechnic University. CR Allam H, 2008, J ALTERN COMPLEM MED, V14, P109, DOI 10.1089/acm.2007.0508 Campbell JM, 2003, RES DEV DISABIL, V24, P120, DOI 10.1016/S0891-4222(03)00014-3 Carper RA, 2005, BIOL PSYCHIAT, V57, P126, DOI 10.1016/j.biopsych.2004.11.005 Chan A. S., 2008, J PSYCHOL CHINESE SO, V9, P225 Chan A. 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Med. PY 2011 BP 1 EP 7 DI 10.1155/2011/549254 PG 7 WC Integrative & Complementary Medicine SC Integrative & Complementary Medicine GA 801WI UT WOS:000293470900001 ER PT J AU Goldberg, DM AF Goldberg, David M. TI SCIENCE AT THE CROSSROADS: FACT OR FICTION SO JOURNAL OF MEDICAL BIOCHEMISTRY LA English DT Review DE scientific fraud; drug development; cold fusion; dietary fibre; hormone replacement therapy; regulatory approval; rubella vaccine; stem cells; antioxidants ID CEREBROSPINAL VENOUS INSUFFICIENCY; RETRACTED ARTICLE. SEE; MULTIPLE-SCLEROSIS; DIETARY FIBER; COLORECTAL-CANCER; RISK; MISCONDUCT; DEUTERIUM; CHILDREN; DISEASE AB Modern Academic Science is largely based on the formulation of hypotheses that are then confirmed through observations and experiments. There is little scope for curiosity that played an important role in early Science. Results carrying negative implications are not easy to publish, and hypotheses have a tendency to take on the mantra of religious beliefs. Academic Science is facing on many fronts pressures that hardly existed in the past. Financial rewards apart from salary can be very high, in the form of fees for consultants, expert legal witnesses, patent development and even the establishment of private companies. Commercial funding forms a significant percentage of the Total Research Budgets in Science and Medicine, but this often leads to loss of control over research protocols and freedom to communicate the results. Media attention confers fame and prestige that is assiduously sought out by some individuals scientists, often supported by University resources, and Press Conferences prior to or synchronous with actual publication. Scientists have long been employed full-time by Government Departments, but research contracts are being increasingly offered by the latter to academic staff on a part-time basis. These pressures and opportunities, together with the priority given to research by most University Tenure and Promotion Committees, are tending to diminish the appetite of scientists for other important responsibilities such as teaching and administration. In a few decades, University scientists have moved from the "Ivory Tower" to the High Street, and many are serving more than one master. The above scenario may bring increased remuneration and the pursuit of research that would be too expensive without these external sources, but adverse consequences have also occurred. They may lead to the complicity of scientists, through no fault of their own, in the introduction of drugs and supplements that: a) fail to deliver the benefits claimed; b) increase the risk of some unrelated illness; c) possess dangerous side effects not known or reported at the time of introduction. Examples include hormone replacement therapy and antioxidant vitamins (A and E) to protect against Coronary Heart Disease; dietary fibre to prevent colon cancer; and arguably calcium supplements to treat osteoporosis. On occasions, academic scientists have served as fronts for the publication by the manufacturers of falsified reports minimizing the risk of serious drug side-effects to ensure Regulatory Approval, as occurred with Vioxx in the treatment of arthritis, and Seroquel for schizophrenia and bipolar depression. Individual fraud or misconduct is more frequent than suspected, because most incidents are without major impact and are suppressed by Universities and Funding Agencies. Major scandals are rare, but may have serious repercussions for the general public and bring science into disrepute. Recent examples include: the Cold Fusion controversy (Low Energy Nuclear Reaction); the linkage by Andrew Wakefield of autism with Rubella vaccination; the infamous creation of stem cells by somatic cell nuclear transfer falsely reported by Hwang Woo-Suk. Fraud by commercial companies is subject to the full force of the law, but Science is treated as a self-regulating profession, and as such the punishments handed out are relatively trivial. In essence, Science prior to 1950, except in North America, proceeded along a highway that segregated the traffic into Commercial, Government and Academic streams, and passed through inspiring landscapes and green pastures. It lter came to a crossroads from which the alternative road led to the Marketplace, and on which segregation into the above three streams was not enforced. It has now become the main thoroughfare for Science world-wide, but there are reasons to believe that this has increased the incidence of dangerous driving and traffic accidents in the form of conflicts of interest, unethical behaviour, misconduct and even fraud. It may be too late to return to the crossroads and continue along the original highway, but there could be considerable merit in restoring the original segregation between the three streams of Science and in developing, as well as enforcing, a stricter code of behaviour, for which some elements are proposed. C1 [Goldberg, David M.] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada. RP Goldberg, DM (reprint author), 9 Harrison Rd, Toronto, ON M2L 1V3, Canada. 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There is now increasing evidence of E/I imbalance in autism, a complex genetic neurodevelopmental disorder diagnosed by abnormal socialization, impaired communication, and repetitive behaviors or restricted interests. The underlying cause is still largely unknown and there is no fully effective treatment or cure. We propose that alteration of the expression and/or timing of critical period circuit refinement in primary sensory brain areas may significantly contribute to autistic phenotypes, including cognitive and behavioral impairments. Dissection of the cellular and molecular mechanisms governing well-established critical periods represents a powerful tool to identify new potential therapeutic targets to restore normal plasticity and function in affected neuronal circuits. C1 [Fagiolini, Michela] Harvard Univ, Sch Med, Boston, MA 02115 USA. Childrens Hosp Boston, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA. 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10.1007/s00401-006-0176-3 NR 208 TC 41 Z9 41 PU HINDAWI PUBLISHING CORPORATION PI NEW YORK PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA SN 0792-8483 J9 NEURAL PLAST JI Neural. Plast. PY 2011 AR 921680 DI 10.1155/2011/921680 PG 17 WC Neurosciences SC Neurosciences & Neurology GA 830DT UT WOS:000295638200001 ER PT J AU Ricci, S Marra, M La Sala, N Orofino, R D'Onofrio, V Ippoliti, F Canitano, N Capriotti, L Corsi, M Businaro, R AF Ricci, S. Marra, M. La Sala, N. Orofino, R. D'Onofrio, V. Ippoliti, F. Canitano, N. Capriotti, L. Corsi, M. Businaro, R. TI Serum Cytokines in Autism Patients: Possible Reliable Markers of the Disease SO NEUROIMMUNOMODULATION LA English DT Meeting Abstract C1 [Ricci, S.] Univ Roma La Sapienza, Social & Forens Med Unit, Rome, Italy. [Marra, M.] ASP Potenza, Stella Maris Mediterraneo Fdn, Potenza, Italy. [Capriotti, L.; Corsi, M.; Businaro, R.] Univ Roma La Sapienza, Dept Surg Sci & Med Biotechnol, Rome, Italy. NR 0 TC 1 Z9 1 PU KARGER PI BASEL PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND SN 1021-7401 J9 NEUROIMMUNOMODULAT JI Neuroimmunomodulation PY 2011 VL 18 IS 6 BP 402 EP 402 PG 1 WC Endocrinology & Metabolism; Immunology; Neurosciences SC Endocrinology & Metabolism; Immunology; Neurosciences & Neurology GA 832FQ UT WOS:000295788700115 ER PT J AU Cheuk, DKL Wong, V Chen, WX AF Cheuk, Daniel K. L. Wong, Virginia Chen, Wen Xiong TI Acupuncture for autism spectrum disorders (ASD) SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review ID PERVASIVE DEVELOPMENTAL DISORDERS; RANDOMIZED CONTROLLED-TRIAL; ALTERNATIVE MEDICINE; DIAGNOSTIC INTERVIEW; RUBELLA VACCINATION; CHILDREN; ELECTROACUPUNCTURE; COMPLEMENTARY; PREVALENCE; POPULATION AB Background Autism spectrum disorders (ASD) are characterized by impairment in social interaction, impairment in communication and lack of flexibility of thought and behavior. Acupuncture, which involves the use of needles or pressure to specific points on the body, is used widely in Traditional Chinese Medicine and increasingly within a western medical paradigm. It has sometimes been used as a treatment aimed at improving ASD symptoms and outcomes, but its clinical effectiveness and safety has not been rigorously reviewed. Objectives To determine the effectiveness of acupuncture for people with ASD in improving core autistic features, as well as communication, cognition, overall functioning and quality of life, and to establish if it has any adverse effects. Search strategy We searched the following databases on 30 September 2010: CENTRAL (T h e Cochrane Library, 2010, Issue 3), MEDLINE (1950 to September 2010 Week 2), EMBASE (1980 to 2010 Week 38), PsycINFO, CINAHL, China Journal Full-text Database, China Master Theses Full-text Database, China Doctor Dissertation Full-text Database, China Proceedings of Conference Database, Index to Taiwan Periodical Literature System, metaRegister of Controlled Trials and the Chinese Clinical Trials Registry. We also searched AMED (26 February 2009) and Dissertation Abstracts International (3 March 2009), but these were no longer available to the authors or editorial base at the date of the most recent search. TCMLARS (Traditional Chinese Medical Literature Analysis and Retrieval System) was last searched on 3 March 2009. Selection criteria We included randomized and quasi-randomized controlled trials. We included studies comparing an acupuncture group with at least one control group that used no treatment, placebo or sham acupuncture treatment in people with ASD. We excluded trials that compared different forms of acupuncture or compared acupuncture with another treatment. Data collection and analysis Two review authors independently extracted trial data and assessed the risk of bias in the trials. We used relative risk (RR) for dichotomous data and mean difference (MD) for continuous data. Main results We included 10 trials that involved 390 children with ASD. The age range was three to 18 years and the treatment duration ranged from four weeks to nine months. The studies were carried out in Hong Kong, mainland China and Egypt. Two trials compared needle acupuncture with sham acupuncture and found no difference in the primary outcome of core autistic features (RFRLRS total score: MD 0.09; 95% CI -0.03 to 0.21, P = 0.16), although results suggested needle acupuncture might be associated with improvement in some aspects of the secondary outcomes of communication and linguistic ability, cognitive function and global functioning. Six trials compared needle acupuncture plus conventional treatment with conventional treatment alone. The trials used different primary outcome measures and most could not demonstrate effectiveness of acupuncture in improving core autistic features in general, though one trial reported patients in the acupuncture group were more likely to have improvement on the Autism Behavior Checklist (RR 1.53; 95% CI 1.09 to 2.16, P = 0.02) and had slightly better post-treatment total scores ( MD -5.53; 95% CI -10.76 to -0.31, P = 0.04). There was no evidence that acupuncture was effective for the secondary outcome of communication and linguistic ability, though there seemed to be some benefit for the secondary outcomes of cognitive function and global functioning. Two trials compared acupressure plus conventional treatment with conventional treatment alone and did not report on the primary outcome. Individual study results suggested there may be some benefit from acupressure for certain aspects of the secondary outcomes of communication and linguistic ability, cognitive function and global functioning. Four trials reported some adverse effects, though there was little quantitative information, and at times both intervention and control groups experienced them. Adverse effects noted included bleeding, crying due to fear or pain, irritability, sleep disturbance and increased hyperactivity. None of the trials reported on quality of life. There are a number of problems with the evidence base: the trials were few in number and included only children; six of the trials were at high risk of bias; they were heterogeneous in terms of participants and intervention; they were of short duration and follow-up; they reported inconsistent and imprecise results, and, due to carrying out large numbers of analyses, they were at risk of false positivity. Authors' conclusions Current evidence does not support the use of acupuncture for treatment of ASD. There is no conclusive evidence that acupuncture is effective for treatment of ASD in children and no RCTs have been carried out with adults. Further high quality trials of larger size and longer follow-up are needed. C1 [Cheuk, Daniel K. L.; Wong, Virginia] Univ Hong Kong, Dept Pediat & Adolescent Med, Queen Mary Hosp, Hong Kong, Hong Kong, Peoples R China. 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PY 2011 VL 40 BP 43 EP 73 DI 10.1016/B978-0-12-374478-4.00003-4 PG 31 WC Education, Special; Neurosciences; Psychology, Multidisciplinary; Rehabilitation SC Education & Educational Research; Neurosciences & Neurology; Psychology; Rehabilitation GA BWU59 UT WOS:000294875600003 ER PT S AU Bailey, DB Hazlett, HC Roberts, JE Wheeler, AC AF Bailey, Donald B. Hazlett, Heather Cody Roberts, Jane E. Wheeler, Anne C. BE Fidler, DJ TI EARLY DEVELOPMENT IN FRAGILE X SYNDROME: IMPLICATIONS FOR DEVELOPMENTAL SCREENING SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES: EARLY DEVELOPMENT IN NEUROGENETIC DISORDERS, VOL 40 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID AUTISM SPECTRUM DISORDER; FRONTAL-SUBCORTICAL CIRCUITS; MENTAL-RETARDATION SYNDROME; DENDRITIC SPINE DEVELOPMENT; TISSUE-SPECIFIC EXPRESSION; NATIONAL PARENT SURVEY; FMR-1 FULL MUTATION; WHITE-MATTER; YOUNG-CHILDREN; BEHAVIORAL-PHENOTYPE AB Fragile X syndrome (FXS), the most common inherited form of intellectual disability, is not obvious at birth. The average age of diagnosis is around 36 months, a figure that has remained unchanged over the past decade. A primary challenge has been the lack of a definitive profile of early development in FXS. This chapter reviews the research that has been conducted relevant to this question. Research has been severely hampered by the fact that in the absence of population screening of newborns, it is virtually impossible to identify a sufficient and representative sample of infants to study. The research that has been conducted suggests that critical neurobiological processes are almost certainly affected in utero and in the early months of development. Consequently, many but not all males with FXS show delays during the latter part of the first year of life. This statement would be less true for females and for premutation carriers. We predict that a best case scenario for promoting earlier identification would be through regular developmental screening of infants in pediatric practice and rapid referral for genetic testing of any infant with developmental delays. Even if these policies could be implemented effectively, however, diagnosis of FXS would, at best, occur at an average age of 16-18 months. More research on early development is needed to further enhance understanding of clinical symptoms during the first year of life, but thus far it appears that a signature FXS profile will be difficult to identify. Population screening, such as newborn screening, will be the only realistic approach to identifying all children with FMR1 gene mutations. C1 [Bailey, Donald B.] RTI Int, Social Stat & Environm Sci, Res Triangle Pk, NC USA. [Hazlett, Heather Cody; Wheeler, Anne C.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC USA. [Roberts, Jane E.] Univ S Carolina, Dept Psychol, Columbia, SC 29208 USA. RP Bailey, DB (reprint author), RTI Int, Social Stat & Environm Sci, Res Triangle Pk, NC USA. 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BE Fidler, DJ TI THE EARLY DEVELOPMENT OF ADAPTIVE BEHAVIOR AND FUNCTIONAL PERFORMANCE IN YOUNG CHILDREN WITH DOWN SYNDROME: CURRENT KNOWLEDGE AND FUTURE DIRECTIONS SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES: EARLY DEVELOPMENT IN NEUROGENETIC DISORDERS, VOL 40 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID SHORT-TERM-MEMORY; EXECUTIVE FUNCTION; DISABILITY INVENTORY; PEDIATRIC EVALUATION; MENTAL-RETARDATION; TESTING VERSION; SELF-CARE; FRAGILE-X; AUTISM; SKILLS AB An explosion of research on Down syndrome in the past two decades has characterized a phenotypic profile including relative strengths in visual spatial processing, receptive language, and social-relatedness, as well as relative challenges in expressive language, verbal processing, and goal-directed behavior. However, there is gap in our understanding of the adaptive behavior profile, that is, the ability for individuals to meet the demands of everyday living, in this population. This review examines research on adaptive behavior and functional performance in children with Down syndrome. Through examining within-group effect sizes across existing research, a distinctive profile emerges after early childhood that suggests daily living skills, also known as self-care, may be a relative challenge to everyday functioning in addition to communication. Suggestions are made in regards to measurement and future research. C1 Colorado State Univ, Dept Human Dev & Family Studies, Ft Collins, CO 80523 USA. RP Daunhauer, LA (reprint author), Colorado State Univ, Dept Human Dev & Family Studies, Ft Collins, CO 80523 USA. 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Rev. Res. Dev. Disabil. PY 2011 VL 40 BP 229 EP 259 DI 10.1016/B978-0-12-374478-4.00009-5 PG 31 WC Education, Special; Neurosciences; Psychology, Multidisciplinary; Rehabilitation SC Education & Educational Research; Neurosciences & Neurology; Psychology; Rehabilitation GA BWU59 UT WOS:000294875600009 ER PT J AU Varga, S AF Varga, Somogy TI Winnicott, symbolic play, and other minds SO PHILOSOPHICAL PSYCHOLOGY LA English DT Article DE Autism; Intersubjectivity; Play; Theory-Theory of Mind; Winnicott ID NORMAL-CHILDREN; PRETEND PLAY; AUTISM AB In this paper, I will attempt to follow Winnicott's thoughts on the intrinsic connection between symbolic play and the way we understand other minds. Phenomenological, conceptual and empirical difficulties in the account will be presented and taken into consideration. Winnicott's account proves to be a fruitful guide into the issue and can help us clarify impaired symbolic play in autism. C1 [Varga, Somogy] Univ Osnabruck, Inst Cognit Sci, D-49069 Osnabruck, Germany. [Varga, Somogy] Univ Copenhagen, Ctr Subject Res, DK-2300 Copenhagen S, Denmark. RP Varga, S (reprint author), Univ Osnabruck, Inst Cognit Sci, Albrechtstr 28, D-49069 Osnabruck, Germany. EM varga@hum.ku.dk CR Anisfeld M, 1996, DEV REV, V16, P149, DOI 10.1006/drev.1996.0006 Baron-Cohen Simon, 2000, UNDERSTANDING OTHER Baron-Cohen Simon, 1995, MINDBLINDNESS ESSAY Bruner J, 1998, SELF-AWARENESS, P308 De Preester H, 2008, PHENOMENOL COGN SCI, V7, P133, DOI 10.1007/s11097-007-9056-0 Freud Sigmund, 1959, STANDARD EDITION COM, P141 Gallagher S., 1996, PHILOS PSYCHOL, V9, P213 Gallagher S., 2005, BODY SHAPES MIND Gaver William W., 1991, P SIGCHI C HUM FACT, P79, DOI 10.1145/108844.108856 Gibson J. 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PY 2011 VL 24 IS 5 BP 625 EP 637 DI 10.1080/09515089.2011.559621 PG 13 WC Ethics; Psychology, Multidisciplinary SC Social Sciences - Other Topics; Psychology GA 820ET UT WOS:000294889100003 ER PT J AU Kennett, J AF Kennett, Jeanette TI IMAGINING REASONS SO SOUTHERN JOURNAL OF PHILOSOPHY LA English DT Article ID MORALITY; AUTISM; DOG AB In this article, I explore the implications of Karsten Stueber's account of imaginative resistance, particularly as it relates to the phenomenon of moral dumbfounding described by Jonathan Haidt and colleagues. I suggest that Stueber's account allows us to redescribe the phenomenon as a failure of the folk psychological project of interpretation and so to challenge Haidt's metaethical conclusions. I close by considering some implications for moral deliberation and judgment in those, such as autistic people, whose interpretive capacities are impaired. C1 Macquarie Univ, Dept Philosophy, N Ryde, NSW 2109, Australia. 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J. Philos. PY 2011 VL 49 SU S BP 181 EP 192 DI 10.1111/j.2041-6962.2011.00066.x PG 12 WC Philosophy SC Philosophy GA 820BO UT WOS:000294880700014 ER PT J AU Garcia, ML Lampreia, C AF Garcia, Mariana Luisa Lampreia, Carolina TI Limits and Possibilities of Identifying Autism within the First Year of Life SO PSICOLOGIA-REFLEXAO E CRITICA LA Portuguese DT Article DE Autism; Early identification; Retrospective studies; Prospective studies ID FAMILY HOME MOVIES; SPECTRUM DISORDER; EARLY RECOGNITION; VIDEO ANALYSIS; CHILDREN; AGE; PHENOTYPE; INFANTS; SIGNS AB Identifying signs of autism in the first year of life is justified by early intervention and better prognostic. This article aims at discussing methodological limits and possibilities of identifying risk of autism at 0-12 months. Methodology from 24 retrospective and prospective early signs studies and their outcomes were analyzed. Limits of identifying risk of autism in the 1(st) year of life lies in observing discrete behavioral categories, and possibilities seem to lie in analyzing interactional and affective categories. C1 [Garcia, Mariana Luisa] Pontificia Univ Catolica Rio de Janeiro, Ctr Teol & Ciencias Humanas, Dept Psicol, BR-22453900 Rio De Janeiro, Brazil. RP Garcia, ML (reprint author), Pontificia Univ Catolica Rio de Janeiro, Ctr Teol & Ciencias Humanas, Dept Psicol, Rua Marques de Sao Vicente 225, BR-22453900 Rio De Janeiro, Brazil. 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PY 2011 VL 24 IS 2 BP 300 EP 308 PG 9 WC Psychology, Multidisciplinary SC Psychology GA 808HV UT WOS:000293969600011 ER PT J AU Tonelli, H AF Tonelli, Helio TI Autism, Theory of Mind and the Role of Mindblindness in the Understanding of Psychiatric Disorders SO PSICOLOGIA-REFLEXAO E CRITICA LA Portuguese DT Article DE Autism; Cognition; Social perception; Schizophrenia; Bipolar disorder ID BIPOLAR DISORDER; SOCIAL INFERENCE; SCHIZOPHRENIA; CHILDREN; METAANALYSIS; ATTRIBUTION; PERCEPTION; DEFICITS; BELIEFS AB Individuals with autism spectrum disorders may suffer from qualitative abnormalities in social contacts and communication patterns. Many studies have shown that a great amount of those individuals might have abnormalities in the Theory of Mind (ToM) cognitive processing, i.e., they may lack the capability of inferring their and others' mental states. This condition was named "mindblindness" by Baron-Cohen (1995). Some authors have recently focused on the possibility that individuals who suffer from schizophrenia and bipolar disorder, like autistic people, show mindblindness, causing them to develop social impairments. This paper discusses the concept of mindblindness and the view that deems it as an exclusively human ability. Afterwards, it presents some of the available tests to evaluate mindblindness and, finally, shows some scientific evidences that ToM deficits might affect patients with other psychiatric conditions. C1 [Tonelli, Helio] Inst Psiquiatria Parana, Curitiba, Parana, Brazil. RP Tonelli, H (reprint author), Av Candido Abreu 526,Cjto 311-B, BR-80530905 Curitiba, Parana, Brazil. 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Crit. PD JAN-MAR PY 2011 VL 24 IS 1 BP 126 EP 134 PG 9 WC Psychology, Multidisciplinary SC Psychology GA 807EW UT WOS:000293878900015 ER PT J AU Coutelle, R Pry, R Sibertin-Blanc, D AF Coutelle, Romain Pry, Rene Sibertin-Blanc, Daniel TI DEVELOPMENT AND QUALITY OF LIFE OF ADOLESCENT BROTHERS AND SISTERS OF SUBJECTS SUFFERING FROM AUTISM: A PILOT STUDY SO PSYCHIATRIE DE L ENFANT LA French DT Article DE Autism; Siblings; Quality of life; Adolescents ID BEHAVIORAL-ADJUSTMENT; SIBLING RELATIONSHIPS; CHILDREN; DISABILITIES; INDIVIDUALS; DEPRESSION; DISORDERS; BOYS; TWIN AB This pilot study of twenty adolescent brothers and sisters of persons suffering from autism let us describe this population in terms of life quality and development (autonomy, socialisation and moral judgement) while taking account of the severity of the autism, the subjects' place among the siblings, their sex and the socio-economic level of the family. This population of adolescent brothers and sisters was first described globally, then as a function of the severity of the autism. Starting from this description, we calculated the number of subjects which would need to be included in a future, comparative study whose objective would be to appreciate the impact of the severity of autism on the social development and autonomy and the life quality of these adolescents. Moreover, with this population, we obtained results which indicate that the development of autonomy for these brothers and sisters differs from that of adolescents in the general population and that the size of the sibling group is particularly important. It also seems true that the severity of the autism will have an impact upon the quality of life of these sibling groups. The results are concordant with data from the literature but they will need to be confirmed by future studies. 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TI The Intersection of Motherhood and Disability: Being a "Good" Korean Mother to an "Imperfect" Child SO JOURNAL OF COMPARATIVE FAMILY STUDIES LA English DT Article ID DEVELOPMENTAL-DISABILITIES; SPECIAL NEEDS; SOUTH-KOREA; FAMILIES; AUTISM; BURDEN; VALUES; LIFE AB This study springs from a larger cross-cultural project about mothering a child with a disability in South Korea and in the United States. The present analysis focuses on data collected in South Korea. Integrating critical feminist and disability theories within a social constructionist framework (McGraw & Walker, 2007), we asked (a) how dominant sociocultural systems related to mothering and disability shape South Korean mothers' understanding of themselves and their children with autism and (b) how mothers conform to and resist these systems. To answer these questions, we conducted in-depth interviews with 14 middle-class, South Korean mothers with children who have autism. We found that mothers resist stigmatizing beliefs about their children by reconstructing the meaning of "normal" childhood and by relying on a network of similarly situated mothers for support. We also found that these mothers conform to traditional beliefs about "good" mothering by adhering to Confucian family values that encourage women to sacrifice themselves to focus on their children's success. From these findings, we offer implications for practice. C1 [You, Hyun-Kyung] Cent Michigan Univ, Dept Human Environm Studies, Mt Pleasant, MI 48859 USA. [McGraw, Lori A.] Oregon State Univ, Corvallis, OR 97331 USA. RP You, HK (reprint author), Cent Michigan Univ, Dept Human Environm Studies, 412N EHS, Mt Pleasant, MI 48859 USA. 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PY 2011 VL 42 IS 4 BP 579 EP + PG 21 WC Family Studies SC Family Studies GA 792YZ UT WOS:000292787600009 ER PT J AU Karabekiroglu, K Rodopman-Arman, A AF Karabekiroglu, Koray Rodopman-Arman, Ayse TI Parental Attachment Style and Severity of Emotional/Behavioral Problems in Toddlerhood SO NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY LA English DT Article DE Attachment; father-infant interaction; mother-infant interaction ID ABERRANT BEHAVIOR CHECKLIST; ADULT ATTACHMENT; DEVELOPMENTAL PSYCHOPATHOLOGY; EXTERNALIZING DISORDERS; DEPRESSIVE SYMPTOMS; EMOTIONAL-PROBLEMS; ROMANTIC LOVE; INFANT; SECURITY; CHILDREN AB Objective: We aimed to investigate the association between maternal and paternal attachment style and severity of emotional and behavioral problem severity in toddlers and to explore the effect of toddlers' gender, presence of autism, and parental depression on this relation. Methods: All patients (n=103) (male=75; female=28) younger than 43 months old (range: 14-43, mean: 30.93 +/- 8.26 months) were included from a clinical sample. The Structured Clinical Interview for DSM-IV-TR, Beck Depression Inventory, and Adult Attachment Scale (AAS) were used for assessing mothers and fathers; the Child Behavior Checklist/2-3 (CBCL) and Aberrant Behavior Checklist (ABC) were applied to evaluate associated psychopathology in toddlers. Results: Both maternal and paternal AAS-avoidance scores were found to be significantly correlated with ABC-hyperactivity and ABC-irritability scores of the toddler (p<.001). A multiple regression model significantly predicted ABC-hyperactivity scores, F(4.47)=5.74, p<.001, with two variables (higher paternal BDI score, and maternal insecure attachment style) significantly contributing to the prediction. Conclusion: The overall results of this study indicate that maternal (but not paternal) insecure attachment style is significantly associated with the severity of toddlers' emotional and behavioral problems, such as hyperactivity, and irritability. Especially when combined with paternal depression, this association becomes stronger. (Archives of Neuropsychiatry 2011; 48: 147-54) C1 [Karabekiroglu, Koray] Ondokuz Mayis Univ, Tip Fak, Cocuk & Ergen Psikiyatrisi Anabilim Dali, Samsun, Turkey. [Rodopman-Arman, Ayse] Marmara Univ, Tip Fak, Cocuk & Ergen Psikiyatrisi Anabilim Dali, Istanbul, Turkey. RP Karabekiroglu, K (reprint author), Ondokuz Mayis Univ, Tip Fak, Cocuk & Ergen Psikiyatrisi Anabilim Dali, Samsun, Turkey. 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PY 2011 VL 48 IS 2 BP 147 EP 154 DI 10.4274/npa.y5684 PG 8 WC Clinical Neurology SC Neurosciences & Neurology GA 792GL UT WOS:000292729200011 ER PT J AU Bozkurt, H Abali, O AF Bozkurt, Hasan Abali, Osman TI Aripiprazole-Induced Enuresis in a Child with Autistic Disorder SO NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY LA English DT Article DE Aripiprazole; enuresis; autism; children ID CLOZAPINE-INDUCED ENURESIS; INDUCED NOCTURNAL ENURESIS; SSRI-INDUCED ENURESIS; URINARY-INCONTINENCE; RISPERIDONE AB Aripiprazole is being increasingly reported to be effective in treating behavioral problems of children with autism. It has fewer side effects with respect to other atypical antipsychotics. However, to our knowledge, in the literature, there is no report on aripiprazole-induced enuresis in children and adolescents diagnosed with autism, although enuresis has been a very rare adverse event observed during the premarketing evaluation of oral aripiprazole. Here, we present a sixteen-year-old boy with diagnosis of autism and epilepsy who developed enuresis after starting aripiprazole and had rapid remission after the discontinuation of the drug. (Archives of Neuropsychiatry 2011; 48: 164-6) C1 [Bozkurt, Hasan; Abali, Osman] Istanbul Univ, Istanbul Tip Fak, Cocuk Ruh Sagligi & Hastaliklari Anabilim Dali, Istanbul, Turkey. RP Bozkurt, H (reprint author), Istanbul Univ, Istanbul Tip Fak, Cocuk Ruh Sagligi & Hastaliklari Anabilim Dali, Istanbul, Turkey. 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PY 2011 VL 48 IS 2 BP 164 EP 166 DI 10.4274/npa.y5795 PG 3 WC Clinical Neurology SC Neurosciences & Neurology GA 792GL UT WOS:000292729200015 ER PT J AU Kievit, RA Geurts, HM AF Kievit, Rogier A. Geurts, Hilde M. TI Autism and perception of awareness in self and others: Two sides of the same coin or dissociated abilities? SO COGNITIVE NEUROSCIENCE LA English DT Editorial Material AB Graziano and Kastner propose a theoretical framework suggesting that the same cognitive machinery underlies computation and inferences concerning (the content of) awareness in others as underlies the perception of the contents of our own awareness. We draw from this hypothesis a strong prediction: Individuals who have deficiencies in one of these abilities must also be impaired in the other. We discuss evidence supporting this prediction from the literature on autism spectrum disorder, but also discuss tentative evidence for a possible dissociation between these two abilities. We conclude that these lines of evidence form crucial empirical tests of the theory. C1 [Kievit, Rogier A.; Geurts, Hilde M.] Univ Amsterdam, Fac Psychol, NL-1012 WX Amsterdam, Netherlands. RP Kievit, RA (reprint author), Univ Amsterdam, Fac Psychol, NL-1012 WX Amsterdam, Netherlands. EM r.a.kievit@uva.nl NR 0 TC 0 Z9 0 PU PSYCHOLOGY PRESS PI HOVE PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND SN 1758-8928 J9 COGN NEUROSCI-UK JI Cogn. Neurosci PY 2011 VL 2 IS 2 BP 119 EP 120 DI 10.1080/17588928.2011.585233 PG 2 WC Neurosciences SC Neurosciences & Neurology GA 779UO UT WOS:000291807900011 PM 24168484 ER PT J AU Dunham, JS Suarez, EMDV Schmitz, C Gabbott, PL Rezaie, P AF Dunham, J. S. Suarez, E. M. Del Valle Schmitz, C. Gabbott, P. L. Rezaie, P. TI The anterior cingulate (BA24c, BA32), ectorhinal (BA36) and triangular (BA45) cortices in autism: a stereological investigation of deep cortical layers and subcortical white matter SO NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY LA English DT Meeting Abstract CT 112th Meeting of the British-Neuropathological-Society CY JAN 05-07, 2011 CL London, ENGLAND SP British Neuropathol Soc HO Inst Child Hlth C1 [Dunham, J. S.; Suarez, E. M. Del Valle; Gabbott, P. L.; Rezaie, P.] Open Univ, Dept Life Sci, Neuropathol & Funct Neurocytol Res Labs, Milton Keynes, Bucks, England. [Schmitz, C.] Maastricht Univ, Dept Psychiat & Neuropsychol, Maastricht, Netherlands. EM p.rezaie@open.ac.uk CR HENDRY, 2006, NEUROIMAGE, V29, P1049 SIMMS, 2009, ACTA NEUROPATHOL, V118, P673, DOI 10.1007/s00401-009-0568-2 VANKOOTEN, 2008, BRAIN 4, V131, P987 NR 3 TC 0 Z9 0 PU WILEY-BLACKWELL PUBLISHING, INC PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0305-1846 J9 NEUROPATH APPL NEURO JI Neuropathol. Appl. Neurobiol. PD JAN PY 2011 VL 37 SU 1 BP 15 EP 15 PG 1 WC Clinical Neurology; Neurosciences; Pathology SC Neurosciences & Neurology; Pathology GA 703II UT WOS:000285971200017 ER PT J AU Lilley, R AF Lilley, Rozanna TI MATERNAL INTIMACIES Talking about Autism Diagnosis SO AUSTRALIAN FEMINIST STUDIES LA English DT Article ID SPECTRUM DISORDER; DISABLED-CHILDREN; DISABILITY; MOTHERS AB This paper draws on the narratives of Australian mothers of pre-school children with autism as they struggle to make sense of, and sometimes resist, diagnosis. My analysis investigates the conflict and collusion between professional and maternal expertise. In the process of giving meaning to their grief, mothers frequently focus on the strengths of their children and the value of their own intimate expertise, which is grounded in a recognition of the full personhood of their child. While mothers frequently perceive their children through the shaping lens of diagnostic criteria, maternal counter-narratives allow a temporary disidentification from the diagnostic process and, in their valorisation of mother/child attachments, are an important source of personal and familial resilience. RP Lilley, R (reprint author), Univ Sydney, Dept Anthropol, Sydney, NSW 2006, Australia. CR ASHTON P, 1995, MINORITIES CULTURAL Asperger H., 1991, AUTISM ASPERGER SYND Avdi E, 2000, BRIT J MED PSYCHOL, V73, P327, DOI 10.1348/000711200160543 Barnett D, 2003, INFANT YOUNG CHILD, V16, P184 Bassin D., 1994, REPRESENTATIONS MOTH Berlant L., 2000, INTIMACY Bettelheim B., 1967, EMPTY FORTRESS INFAN Bumiller K, 2009, SIGNS, V34, P875 Bumiller K, 2008, SIGNS, V33, P967, DOI 10.1086/528848 Cashin A., 2003, THESIS U TECHNOLOGY *CCD, 2001, PEDIATRICS, V107 Centers for Disease Control and Prevention, AUT SPECTR DIS ASDS CIARANELLO AL, 1995, ANNU REV NEUROSCI, V18, P101 *DEP FAM HOUS COMM, 2009, HELP CHILDR AUT Edelson M. 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Fem. Stud. PY 2011 VL 26 IS 68 BP 207 EP 224 DI 10.1080/08164649.2011.574600 PG 18 WC Women's Studies SC Women's Studies GA 771ZO UT WOS:000291199400004 ER PT J AU Reser, JE AF Reser, Jared Edward TI Conceptualizing the Autism Spectrum in Terms of Natural Selection and Behavioral Ecology: The Solitary Forager Hypothesis SO EVOLUTIONARY PSYCHOLOGY LA English DT Article DE autism; comparative neuroscience; ecology; epidemiology; neuroethology; systemizing ID PERVASIVE DEVELOPMENTAL DISORDERS; ORANGUTANS PONGO-PYGMAEUS; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; EVOLUTIONARY PSYCHOLOGY; BIOENERGETIC THRIFT; BRAIN-DEVELOPMENT; SOCIAL-BEHAVIOR; CHILDREN; GENETICS AB This article reviews etiological and comparative evidence supporting the hypothesis that some genes associated with the autism spectrum were naturally selected and represent the adaptive benefits of being cognitively suited for solitary foraging. People on the autism spectrum are conceptualized here as ecologically competent individuals that could have been adept at learning and implementing hunting and gathering skills in the ancestral environment. Upon independence from their mothers, individuals on the autism spectrum may have been psychologically predisposed toward a different life-history strategy, common among mammals and even some primates, to hunt and gather primarily on their own. Many of the behavioral and cognitive tendencies that autistic individuals exhibit are viewed here as adaptations that would have complemented a solitary lifestyle. For example, the obsessive, repetitive and systemizing tendencies in autism, which can be mistakenly applied toward activities such as block stacking today, may have been focused by hunger and thirst toward successful food procurement in the ancestral past. Both solitary mammals and autistic individuals are low on measures of gregariousness, socialization, direct gazing, eye contact, facial expression, facial recognition, emotional engagement, affiliative need and other social behaviors. The evolution of the neurological tendencies in solitary species that predispose them toward being introverted and reclusive may hold important clues for the evolution of the autism spectrum and the natural selection of autism genes. Solitary animals are thought to eschew unnecessary social contact as part of a foraging strategy often due to scarcity and wide dispersal of food in their native environments. It is thought that the human ancestral environment was often nutritionally sparse as well, and this may have driven human parties to periodically disband. Inconsistencies in group size must have led to inconsistencies in the manner in which natural selection fashioned the social minds of humans, which in turn may well be responsible for the large variation in social abilities seen in human populations. This article emphasizes that individuals on the autism spectrum may have only been partially solitary, that natural selection may have only favored subclinical autistic traits and that the most severe cases of autism may be due to assortative mating. C1 Univ So Calif, Dept Psychol, Los Angeles, CA 90089 USA. RP Reser, JE (reprint author), Univ So Calif, Dept Psychol, Los Angeles, CA 90089 USA. 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The first one is that autistics' ability to pass recognition tests arises from an undivided attention and intention that value the truths one recognizes and reject what contradicts that information-similar to the deterministic stance of classical computational logic. The second derivative is that autistics fail false-belief tests because they lack the divided attention and intention that value simultaneously what one knows and what contradicts that knowledge-which is analogous to the ambiguity that surrounds quantum phenomena. Research on autism may lead to an understanding of the interplay of deterministic and quantum information processing in the act of creation. C1 [Cassella, Antonio] LUZ, Catedra Libre Autismo, Maracaibo, Venezuela. [Cassella, Antonio] Imerisya, Zea, Estado Merida, Venezuela. RP Cassella, A (reprint author), LUZ, Catedra Libre Autismo, Maracaibo, Venezuela. 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Weiner, Talia TI The Inner Fortress: Symptom and Meaning in Asperger's Syndrome SO PSYCHOANALYTIC INQUIRY LA English DT Article ID YOUNG-CHILDREN; AUTISM; DISORDERS; PSYCHOANALYSIS AB This article shows that psychodynamic perspectives are particularly relevant in working with people who have Asperger's syndrome (AS). It is believed that a central problem among people with AS is difficulty in understanding their own mind and the mind of others. Recent discussion of factors involved in fostering change in psychoanalytic psychotherapy stresses the importance of a theory of mind, known as mentalization, that refers to the effort by the therapist to understand the patient's mind. It is in this demonstration of the activity of coming to know the mind of another that psychodynamic perspectives may be particularly helpful in working with persons with AS to come to understand their own mind and to know the minds of others. Psychodynamic psychotherapy is also important in helping persons with AS to deal with difficulties and frustrations that they have encountered in their life. C1 [Cohler, Bertram J.] Univ Chicago, Dept Comparat Human Dev, Chicago, IL 60637 USA. [Cohler, Bertram J.] Univ Chicago, Dept Psychol, Chicago, IL 60637 USA. [Cohler, Bertram J.] Univ Chicago, Dept Psychiat, Chicago, IL 60637 USA. RP Cohler, BJ (reprint author), Univ Chicago, Dept Comparat Human Dev, 5730 S Woodlawn Ave, Chicago, IL 60637 USA. EM bert@midway.uchicago.edu CR Asperger H., 1944, AUTISM ASPERGER SYND, P37 Atwood Tony, 2007, COMPLETE GUIDE ASPER Baron-Cohen S, 2000, DEV PSYCHOPATHOL, V12, P489, DOI 10.1017/S0954579400003126 BARONCOHEN S, 1985, COGNITION, V21, P37, DOI 10.1016/0010-0277(85)90022-8 Beebe B, 2003, INFANT MENT HEALTH J, V24, P24, DOI 10.1002/imhj.10042 Beebe B., 2005, FORMS INTERSUBJECTIV Bergman P, 1949, PSYCHOANAL STUD CHIL, V3-4, P333 BETTELHEIM B, 1959, SCI AM Bettelheim B., 1967, EMPTY FORTRESS INFAN Bettelheim Bruno, 1960, INFORM HEART AUTONOM Bleuler E, 1916, TXB PSYCHIAT Bromfield R, 2000, PSYCHOANAL INQ, V20, P732, DOI 10.1080/07351692009348918 FOLSTEIN S, 2000, ASPERGER SYNDROME, P159 Fonagy P., 2003, PSYCHOANALYTIC THEOR, P270 Fonagy P., 2008, MENTALIZATION THEORE, P3 Fonagy Peter, 2002, AFFECT REGULATION ME FRIEDMAN R, 1988, ANATOMY PSYCHOTHERAP Frith U, 1991, AUTISM ASPERGER SYND Frith U, 2004, J CHILD PSYCHOL PSYC, V45, P672, DOI 10.1111/j.1469-7610.2004.00262.x Galatzer-Levy Robert M., 1993, ESSENTIAL OTHER DEV Gernsbacher MA, 2005, CURR DIR PSYCHOL SCI, V14, P55, DOI 10.1111/j.0963-7214.2005.00334.x Gillberg C., 1998, ASPERGER SYNDROME HI, P79 GILLBERG CL, 1992, J CHILD PSYCHOL PSYC, V33, P813, DOI 10.1111/j.1469-7610.1992.tb01959.x GRANDIN T, 1995, THINKING PICTURES AN Grandin Temple, 2005, ANIMALS TRANSLATION Greenspan S.I., 1997, DEV BASED PSYCHOTHER Greenspan SI, 2000, PSYCHOANAL INQ, V20, P675, DOI 10.1080/07351692009348916 HACKING I, 2006, WHAT IS TOM SAYING M Hacking Ian, 2006, LONDON REV BOOKS Hacking Ian, 1999, SOCIAL CONSTRUCTION HARPER LV, 1975, PSYCHOL BULL, V82, P784, DOI 10.1037/h0077072 Henry Jules, 1971, PATHWAYS MADNESS HODGES S, 2004, MANY FACES ASPERGERS, P39 Hohendahl P.-U., 2001, CRITICAL THEORY CURR Jay M., 1973, DIALECTICAL IMAGINAT Kanner L, 1943, NERV CHILD, V2, P217 KLAUBER T, 2004, MANY FACES ASPERGERS, P54 Klin A., 2005, HDB AUTISM PERVASIVE, V1, P88 Kohut H., 1959, SEARCH SELF, V1, P205 Kohut H., 1977, RESTORATION SELF KOHUT H, 1978, INT J PSYCHOANAL, V59, P413 KRANOWITZ CS, 2006, OUT SYNC CHILD RECOG Lerner R. M., 1981, INDIVIDUALS PRODUCER Lincoln A, 1998, ASPERGER SYNDROME HI, P145 MINSHEW NJ, 2005, AUTISM PERVASIVE DEV, V1, P473 Molloy H, 2002, DISABIL SOC, V17, P659, DOI 10.1080/0968759022000010434 Nadesan Majia Holmer, 2005, CONSTRUCTING AUTISM Pozzi ME, 2003, INT J PSYCHOANAL, V84, P1333 Prince-Hughes Dawn, 2004, SONGS GORILLA NATION Racker H, 1968, TRANSFERENCE COUNTER Rhode M, 2004, MANY FACES ASPERGERS RICKARBY G, 1991, J AUTISM DEV DISORD, V21, P341, DOI 10.1007/BF02207330 Rutter M., 2005, HDB AUTISM PERVASIVE, V1, P425 Sanders Jacquelyn Seevak, 1996, RESIDENTIAL TREATMEN, V14, P1, DOI 10.1300/J007v14n02_01 Schafer Roy, 1992, RETELLING LIFE NARRA Schultz R. 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R., 2000, ASPERGER SYNDROME, P25 Volkmar FR, 2000, PSYCHOANAL INQ, V20, P660, DOI 10.1080/07351692009348915 Wing L, 1991, AUTISM ASPERGER SYND, P93, DOI DOI 10.1017/CB09780511526770.003 WING L, 1981, PSYCHOL MED, V11, P115 NR 72 TC 0 Z9 0 PU ANALYTIC PRESS INC PI MAHWAH PA 10 INDUSTRIAL AVE, MAHWAH, NJ 07430 USA SN 0735-1690 J9 PSYCHOANAL INQ JI Psychoanal. Inq. PY 2011 VL 31 IS 3 SI SI BP 208 EP 221 DI 10.1080/07351690.2010.513592 PG 14 WC Psychology, Psychoanalysis SC Psychology GA 772WE UT WOS:000291267800002 ER PT J AU Sugarman, A AF Sugarman, Alan TI Psychoanalyzing a Vulcan: The Importance of Mental Organization in Treating Asperger's Patients SO PSYCHOANALYTIC INQUIRY LA English DT Article ID UNMENTALIZED EXPERIENCE; SELF; INSIGHTFULNESS; ATTACHMENT; AUTISM; DIMENSIONS; SECURITY; CAPACITY; CHILDREN; THOUGHT AB The opinion that psychoanalysis is of little value in treating patients suffering from Asperger's syndrome is a relatively common one, even among fellow psychoanalysts. Several reasons have been suggested to account for this including the discrediting of psychoanalytic treatment for patients in the autistic spectrum because of Bettelheim's (1967) mistaken blaming of the condition on poor parenting or the assumption that a biochemically based disorder cannot benefit from a psychologically oriented treatment. This article suggests that a third reason has to do with the underlying model of mutative action used by many current day psychoanalysts. Implicit in most modern day Freudian work is a model of mutative action that prioritizes verbal interpretation and emphasizes the gaining of insight into unconscious mental content. Viewing the psychoanalytic task as deciphering the unconscious meaning of the patient's verbalizations ignores the problem that Asperger's patients have with mentalizing or developing a theory of mind. This article suggests that psychoanalysts shift their emphasis to promoting a process of insightfulness defined as the equivalent of mentalization as it occurs in the psychoanalytic situation. Insightfulness is similar to the Kleinian emphasis on promoting higher order symbolic thinking. The psychoanalytic treatment of a patient suffering from Asperger's syndrome is described to illustrate how the psychoanalyst works to promote insightfulness and how this approach differs from trying to uncover the hidden, unconscious content presumed to lie at the depths of the psyche. The patient described also illustrates the higher end of the Asperger's spectrum and the need not to let the character defenses that develop to cope with such a debilitating disorder not obscure the essential constitutional basis of the patient's difficulties even though, of course such limitations will become components of compromise formations. C1 [Sugarman, Alan] Univ Calif San Diego, San Diego Psychoanalyt Soc & Inst, San Diego, CA 92103 USA. RP Sugarman, A (reprint author), 4180 Jolla Village Dr,Suite 550B, La Jolla, CA 92037 USA. EM Mumford2@cox.net CR Abrams S, 1996, Psychoanal Study Child, V51, P71 Altman N, 2002, CONTEMP PSYCHOANAL, V38, P499 Alvarez A., 2004, MANY FACES ASPERGERS, P113 Aron L., 1996, M MINDS MUTUALITY PS Baron-Cohen Simon, 2000, UNDERSTANDING OTHER Bateman A., 2008, MIND MIND INFANT RES, P139 Bettelheim B., 1967, EMPTY FORTRESS INFAN Bishop D. V. 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TI The Dyadic Psychoanalytic Treatment of a Toddler With Autism Spectrum Disorder SO PSYCHOANALYTIC INQUIRY LA English DT Article ID CHILDREN; PLAY AB This article describes a psychoanalytically informed dyadic approach to treatment of children with autism spectrum disorder that both engages the child on a psychodynamic level and works toward addressing the impact on the mother and the mother-child relationship resulting from the child's diagnosis and developmental differences. The treatment of Johnny, a 2.5- to 6-year-old boy on the autism spectrum, is used to illustrate the methodology implemented in this approach and explores and elucidates the developmental themes as they unfold in the course of treatment. C1 [Sherkow, Susan P.] New York Psychoanalyt Inst, Div Adolescent & Child, New York, NY USA. [Sherkow, Susan P.] Mt Sinai Coll Med, New York, NY USA. [Sherkow, Susan P.] Albert Einstein Coll Med, New York, NY USA. RP Sherkow, SP (reprint author), 1100 Madison Ave,Suite 2L, New York, NY 10028 USA. EM spsherkow@gmail.com CR ABRAMS S, 1983, PSYCHOANAL STUD CHIL, V38, P113 Dawson G, 2008, DEV PSYCHOPATHOL, V20, P775, DOI 10.1017/S0954579408000370 Helt M, 2008, NEUROPSYCHOL REV, V18, P339, DOI 10.1007/s11065-008-9075-9 Neubauer P B, 1987, Psychoanal Study Child, V42, P3 Sherkow SP, 2004, PSYCHOANAL STUD CHIL, V59, P55 TUSTIN F, 1988, INT REV PSYCHO-ANAL, V15, P93 NR 6 TC 0 Z9 0 PU ANALYTIC PRESS INC PI MAHWAH PA 10 INDUSTRIAL AVE, MAHWAH, NJ 07430 USA SN 0735-1690 J9 PSYCHOANAL INQ JI Psychoanal. Inq. PY 2011 VL 31 IS 3 SI SI BP 252 EP 275 DI 10.1080/07351690.2010.513636 PG 24 WC Psychology, Psychoanalysis SC Psychology GA 772WE UT WOS:000291267800005 ER PT J AU Rhode, M AF Rhode, Maria TI Asperger's Syndrome: A Mixed Picture SO PSYCHOANALYTIC INQUIRY LA English DT Article AB Diagnostic ambiguities surrounding Asperger's syndrome are discussed in a historical context; two main subtypes are distinguished according to whether coping mechanisms are predominantly obsessional or schizoid. A case is reported of a girl, later diagnosed with Asperger's syndrome, who originally showed many characteristics of autism, including echolalia. In the later stages of her treatment, she resembled borderline children in her anxious outpouring of florid fantasy. The transition from the first stage to the second was marked by a fantasy of the bodily projection of her mouth into the therapist. Drawings from the beginning of treatment suggested that the schizoid fantasies characteristic of the second stage were already present, although in unelaborated form. The case is discussed in the context of object relations theory and of historical controversies concerning the relationship of autism to childhood psychosis. It is suggested that the intimate psychodynamic knowledge of a child acquired during therapy can make a contribution to diagnostic classification. C1 [Rhode, Maria] Univ E London, Tavistock Clin, London E15 4LZ, England. RP Rhode, M (reprint author), Tavistock & Portman NHS Fdn Trust, Dept Children & Families, 120 Belsize Lane, London NW3 5BA, England. 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Inq. PY 2011 VL 31 IS 3 SI SI BP 288 EP 302 DI 10.1080/07351690.2010.513633 PG 15 WC Psychology, Psychoanalysis SC Psychology GA 772WE UT WOS:000291267800007 ER PT J AU Volkmar, FR AF Volkmar, Fred R. TI Asperger's Disorder: Implications for Psychoanalysis SO PSYCHOANALYTIC INQUIRY LA English DT Article ID AUTISTIC PSYCHOPATHY; DSM-IV; CHILDREN; TRIAL AB Although described only one year after Kanner's (1943) classic description of autism, Asperger's account of the condition that now carries his name (Asperger, 1944) has, until recently, received much less attention. Psychoanalytic attention has focused largely on infantile autism. and early work was concerned with the idea that experiential factors might be involved in pathogenesis. During the 1970s, a large body of work questioned this view noting, for example, the strong genetic and brain basis of autism (Volkmar, 2000). Work from other fields began to question some early theoretical notions, e.g., the normative existence of an autistic phase, but important questions that autism raised for understanding early ego development and capacities for self-object differentiation continue to be a concern of some theoretical and clinical interest (Volkmar, 2000). This article provides a summary of Asperger's as a diagnostic concept in terms of the history of the concept, aspects of clinical expression and co-morbidity as well as implications or intervention. The final section of the article focuses on implications that the condition may have for theory and practice. C1 Yale Univ, Ctr Child Study, New Haven, CT 06520 USA. RP Volkmar, FR (reprint author), Yale Univ, Ctr Child Study, POB 207900, New Haven, CT 06520 USA. EM fred.volkmar@yale.edu CR American Psychiatric Association, 1994, DIAGN STAT MAN American Psychiatric Association, 2000, DIAGN STAT MAN, V4th Asperger H, 1944, ARCH PSYCHIAT NERVEN, V117, P76, DOI 10.1007/BF01837709 Asperger H., 1979, COMMUNICATION, V13, P45 Attwood T., 1998, ASPERGERS SYNDROME G Berthier ML, 2003, DEV MED CHILD NEUROL, V45, P207, DOI 10.1017/S0012162203000392 Bleuler E, 1916, LEHRBUCH PSYCHIATRIE CASSIDY J, 2004, MANY FACES ASPERGERS, P216 CUDMORE K, 2004, MANY FACES ASPERGERS, P183 Fontenelle LF, 2004, PSYCHOPATHOLOGY, V37, P105, DOI 10.1159/000078608 GHAZIUDDIN M, 1992, J AUTISM DEV DISORD, V22, P643, DOI 10.1007/BF01046332 GHAZIUDDIN N, 1998, J INTELL DISABIL RES, V42, P279 GHAZIUDDIN NL, 1995, J AUTISM DEV DISORD, V25, P311 HARAMAKI S, 2007, J CLIN MED, V65, P516 Hippler K, 2003, PHILOS T ROY SOC B, V358, P291, DOI 10.1098/rstb.2002.1197 HOWLIN P, 1999, CHILDREN WITH AUTISM Howlin P, 2003, J AUTISM DEV DISORD, V33, P3, DOI 10.1023/A:1022270118899 Kanner L, 1943, NERV CHILD, V2, P217 Klin A, 2003, CHILD ADOL PSYCH CL, V12, pXIII, DOI 10.1016/S1056-4993(02)00055-X KLIN A, 1995, J CHILD PSYCHOL PSYC, V36, P1127, DOI 10.1111/j.1469-7610.1995.tb01361.x Klin A., 2005, HDB AUTISM PERVASIVE, P88 Klin A, 2005, J AUTISM DEV DISORD, V35, P221, DOI 10.1007/s10803-005-2001-6 KLIN A, 2000, ASPERGER SYNDROME, P489 Lincoln A, 1998, ASPERGER SYNDROME HI, P145 Mero Mervi-Marja, 2002, Int J Circumpolar Health, V61 Suppl 2, P80 Miller JN, 1997, J CHILD PSYCHOL PSYC, V38, P247 MORGAN S, 2004, MANY FACES ASPERGERS, P153 Myles B.S., 1997, ASPERGER SYNDROME GU NESICVUCKOVIC T, 2004, MANY FACES ASPERGERS, P168 Ozonoff S, 2002, PARENTS GUIDE ASPERG Paul R, 2005, J AUTISM DEV DISORD, V35, P205, DOI 10.1007/s10803-005-1999-9 Polmear C., 2004, MANY FACES ASPERGERS, P86 POWERS M, 2002, ASPERGER SYNDROME YO Rhode M, 2004, MANY FACES ASPERGERS ROBINSON JF, 1954, AM J ORTHOPSYCHIAT, V24, P755 Rourke B., 2000, ASPERGER SYNDROME, P231 Shuttleworth J., 1999, J CHILD PSYCHOTHER, V25, P239, DOI 10.1080/00754179908260292 SMITH IM, 2000, ASPERGER SYNDROME, P97 Sofronoff K, 2005, J CHILD PSYCHOL PSYC, V46, P1152, DOI 10.1111/j.1469-7610.2005.00411.x STERN M, 2004, MANY FACES ASPERGERS Tantam D., 2000, AUTISM INT J RES PRA, V4, P47, DOI DOI 10.1177/1362361300004001004 TANTAM D, 1988, BRIT J PSYCHIAT, V153, P783, DOI 10.1192/bjp.153.6.783 Tantam D., 2000, ASPERGER SYNDROME, P367 TRUCKE B, 2004, MANY FACES ASPERGERS, P234 VANKREVE.DA, 1971, J AUTISM CHILD SCHIZ, V1, P82 VANVELEN DA, 1973, ACTA PAEDOPSYCHIATR, V39, P199 Volkmar F. R., 2009, PRACTICAL GUIDE AUTI Volkmar FR, 2000, PSYCHOANAL INQ, V20, P660, DOI 10.1080/07351692009348915 VOLKMAR FR, 1994, AM J PSYCHIAT, V151, P1361 WING L, 1981, PSYCHOL MED, V11, P115 Woodbury-Smith M, 2005, J AUTISM DEV DISORD, V35, P235, DOI 10.1007/s10803-005-2002-5 NR 51 TC 2 Z9 2 PU ANALYTIC PRESS INC PI MAHWAH PA 10 INDUSTRIAL AVE, MAHWAH, NJ 07430 USA SN 0735-1690 J9 PSYCHOANAL INQ JI Psychoanal. Inq. PY 2011 VL 31 IS 3 SI SI BP 334 EP 344 DI 10.1080/07351690.2010.513664 PG 11 WC Psychology, Psychoanalysis SC Psychology GA 772WE UT WOS:000291267800010 ER PT J AU Norbury, C Nation, K AF Norbury, Courtenay Nation, Kate TI Understanding Variability in Reading Comprehension in Adolescents With Autism Spectrum Disorders: Interactions With Language Status and Decoding Skill SO SCIENTIFIC STUDIES OF READING LA English DT Article ID IMPAIRMENT SLI; SIMPLE VIEW; CHILDREN; ABILITY; CONTEXT; DIFFICULTIES; HYPERLEXIA; KNOWLEDGE; DEFICITS; READERS AB Although it is well recognized that reading skills vary in people with autism spectrum disorders (ASD), reasons for this variability are not well understood. We used the simple view of reading model to investigate both word decoding and text comprehension processes in two well-established subtypes within the autism spectrum, those with age-appropriate structural language skills and those structural language impairments. Generally, participants with language impairments performed less well than those with age-appropriate language skills. Word-level reading was a relative strength for both groups, although it showed declines with age. Comprehension weaknesses were especially marked among those with poor structural language skills. Reading outcomes in ASD are related to variations both in decoding and comprehension and in the oral language skills that support the development of these processes. C1 [Norbury, Courtenay] Univ London, Dept Psychol, Egham TW20 0EX, Surrey, England. [Nation, Kate] Univ Oxford, Oxford OX1 2JD, England. RP Norbury, C (reprint author), Univ London, Dept Psychol, Egham TW20 0EX, Surrey, England. EM courtenay.norbury@rhul.ac.uk RI Nation, Kate/F-8228-2014 CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Bishop D. V. M., 2003, TEST RECEPTION GRAMM Bishop DVM, 2004, PSYCHOL BULL, V130, P858, DOI 10.1037/0033-2909.130.6.858 Botting N, 2006, READ WRIT, V19, P77, DOI 10.1007/s11145-005-4322-4 Bowyer-Crane C, 2005, BRIT J EDUC PSYCHOL, V75, P189, DOI 10.1348/000709904X22674 Brock J, 2008, COGNITION, V108, P896, DOI 10.1016/j.cognition.2008.06.007 Cain K, 2007, CHILDRENS COMPREHENS Cain K, 2003, J CHILD LANG, V30, P681, DOI 10.1017/S0305000903005713 Cain K, 2001, MEM COGNITION, V29, P850, DOI 10.3758/BF03196414 Catts H. W., 2005, CONNECTIONS LANGUAGE, P50 Catts HW, 2006, J SPEECH LANG HEAR R, V49, P278, DOI 10.1044/1092-4388(2006/023) Conti-Ramsden G, 2001, J CHILD PSYCHOL PSYC, V42, P741, DOI 10.1111/1469-7610.00770 Dunn L. M., 1997, BRIT PICTURE VOCABUL, V2 Frith U., 1989, AUTISM EXPLAINING EN Grigorenko EL, 2003, J CHILD PSYCHOL PSYC, V44, P1079, DOI 10.1111/1469-7610.00193 Happe F, 1999, TRENDS COGN SCI, V3, P216, DOI 10.1016/S1364-6613(99)01318-2 HOOVER WA, 1990, READ WRIT, V2, P127, DOI 10.1007/BF00401799 Jolliffe T, 2000, PSYCHOL MED, V30, P1169, DOI 10.1017/S003329179900241X Kjelgaard MM, 2001, LANG COGNITIVE PROC, V16, P287 Lindgren KA, 2009, AUTISM RES, V2, P22, DOI 10.1002/aur.63 Lopez B, 2003, J CHILD PSYCHOL PSYC, V44, P285, DOI 10.1111/1469-7610.00121 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Loucas T, 2008, J CHILD PSYCHOL PSYC, V49, P1184, DOI 10.1111/j.1469-7610.2008.01951.x Nation K, 2005, TOP LANG DISORD, V25, P21 Nation K, 2005, BL HBK DEV PSYCHOL, P248, DOI 10.1002/9780470757642.ch14 Nation K, 1998, J MEM LANG, V39, P85, DOI 10.1006/jmla.1998.2564 Nation K, 1999, PSYCHOL BULL, V125, P338, DOI 10.1037/0033-2909.125.3.338 Nation K, 2006, J AUTISM DEV DISORD, V36, P911, DOI 10.1007/s10803-006-0130-1 Nation K, 2004, J SPEECH LANG HEAR R, V47, P199, DOI 10.1044/1092-4388(2004/017) Neale M., 1997, NEALE ANAL READING A Norbury CF, 2005, J EXP CHILD PSYCHOL, V90, P142, DOI 10.1016/j.jecp.2004.11.003 Norbury CF, 2002, INT J LANG COMM DIS, V37, P227, DOI 10.1080/13682820210136269 Norbury CF, 2004, J SPEECH LANG HEAR R, V47, P1179, DOI 10.1044/1092-4388(2004/87) O'Connor IM, 2004, J AUTISM DEV DISORD, V34, P115, DOI 10.1023/B:JADD.0000022603.44077.6b Perfetti CA, 2005, BL HBK DEV PSYCHOL, P227, DOI 10.1002/9780470757642.ch13 Riches NG, 2010, INT J LANG COMM DIS, V45, P47, DOI 10.3109/13682820802647676 Ricketts J, 2007, SCI STUD READ, V11, P235 Rutter M., 2003, SOCIAL COMMUNICATION Saldana D, 2007, J EXP CHILD PSYCHOL, V96, P310, DOI 10.1016/j.jecp.2006.11.002 Semel E., 2006, CLIN EVALUATION LANG, V4th SNOWLING M, 1986, J EXP CHILD PSYCHOL, V42, P392, DOI 10.1016/0022-0965(86)90033-0 Tager-Flusberg H, 2004, DEVELOPMENTAL LANGUAGE DISORDERS: FROM PHENOTYPES TO ETIOLOGIES, P31 Tager-Flusberg H., 2005, HDB AUTISM PERVASIVE, V1, P335 Tager-Flusberg H, 2006, CLIN NEUROSCI RES, V6, P219, DOI 10.1016/j.cnr.2006.06.007 Torgeson J, 1999, TEST WORD READING EF Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd NR 46 TC 10 Z9 10 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 1088-8438 J9 SCI STUD READ JI Sci. Stud. Read. PY 2011 VL 15 IS 3 BP 191 EP 210 DI 10.1080/10888431003623553 PG 20 WC Education & Educational Research; Psychology, Educational SC Education & Educational Research; Psychology GA 772VF UT WOS:000291264800001 ER PT J AU Ohrstrom, P AF Ohrstrom, Peter TI Helping Autism-Diagnosed Teenagers Navigate and Develop Socially Using E-Learning Based on Mobile Persuasion SO INTERNATIONAL REVIEW OF RESEARCH IN OPEN AND DISTANCE LEARNING LA English DT Article DE E-learning; autism; mobile learning; persuasive technology ID ASPERGER-SYNDROME AB The HANDS (Helping Autism-diagnosed teenagers Navigate and Develop Socially) research project involves the creation of an e-learning toolset that can be used to develop individualized tools to support the social development of teenagers with an autism diagnosis. The e-learning toolset is based on ideas from persuasive technology. This paper addresses the system design of the HANDS toolset as seen from the user's perspective. The results of the evaluation of prototype 1 of the toolset and the needs for further development are discussed. In addition, questions regarding credibility and reflections on ethical issues related to the project are considered. C1 Univ Aalborg, Aalborg, Denmark. RP Ohrstrom, P (reprint author), Univ Aalborg, Aalborg, Denmark. CR AAGAARD M, 2010, EVALUATION PROTOTYPE AAGAARD M, 2008, PERSUASIVE 08 BELL E, 2006, COMPUTER APPL PEOPLE Dawe M., 2006, P SIGCHI C HUM FACT, DOI [10.1145/1124772.1124943, DOI 10.1145/1124772.1124943] Ferguson H, 2005, EDUC TRAIN DEV DISAB, V40, P60 Fogg B. J., 2003, PERSUASIVE TECHNOLOG Friedman B, 2002, VALUE SENSITIVE DESI GERDES A, 2010, PERSUASIVE Golan O, 2006, DEV PSYCHOPATHOL, V18, P591, DOI 10.1017/S0954579406060305 Gray C., 2000, NEW SOCIAL STORY BOO Gyori M., 2010, EVALUATION PROTOTYPE HOLM S, 2010, ETHICS BOARD ANN REP JESPERSEN JL, 2007, LECT NOTES COMPUTER, P109 MINTZ J, 2010, EVALUATIONS PROTOTYP Ohrstrom P, 2007, THEOR MED BIOETH, V28, P221, DOI 10.1007/s11017-007-9037-x RANFELT AM, 2007, ACM INT C P SERIES, V350 Bolte S, 2004, FOCUS ON AUTISM RESEARCH, P247 SCHARFE H, CEUR WORKSHOP P, V483 Smith Myle B., 2007, FOCUS AUTISM OTHER D, V22, P96, DOI [10.1177/10883576070220021001, DOI 10.1177/10883576070220021001] SORENSEN M, 2005, AUTISMEBLADET, V3, P32 Volkmar FR, 2004, J CHILD PSYCHOL PSYC, V45, P135, DOI 10.1046/j.0021-9630.2003.00317.x NR 21 TC 1 Z9 1 PU ATHABASCA UNIV PI ATHABASCA PA 1 UNIVERSITY DR, ATHABASCA, AB T9S 3A3, CANADA SN 1492-3831 J9 INT REV RES OPEN DIS JI Int. Rev. Res. Open Distance Learn. PY 2011 VL 12 IS 4 SI SI BP 54 EP 71 PG 18 WC Education & Educational Research SC Education & Educational Research GA 769FP UT WOS:000290997000005 ER PT J AU Marques, MH Dixe, MDR AF Marques, Mario Henriques Rodrigues Dixe, Maria dos Anjos TI Children and youth with autism: impact on their parents and family dynamics SO REVISTA DE PSIQUIATRIA CLINICA LA Portuguese DT Article DE Autism; families; parents; psychological implications ID DISABILITIES; DISORDERS AB Context: Autism is thought to be a neurodevelopmental disorder. It has a severe impact on behaviour, communication and social interaction and is a source of worry for parents. Objective: To ascertain the needs of the parents of children and young people with autism and relate these needs to functionality, family coping strategies, emotional state and satisfaction with life. Methods: A correlation study was undertaken on a non-probabilistic sample of 50 parents of autistic children and young people. The parents completed a questionnaire consisting of sociodemographic data, the Family Needs Survey (FNS); Family Adaptability and Cohesion Evaluation Scales, (FACES-III), Depression Anxiety and Stress Scales (DASS), Family Crisis Oriented Personal Scales (F-COPES) and the Personal Wellbeing Index (PWI). Descriptive and inferential statistics were used for data analysis. Results: More information on the services (medical and social security) from which their child could benefit was the need most often mentioned by parents. The parents with the most needs exhibited the most negative emotional states; they used more strategies to reframe and acquire social assistance - intimate relations. On average parents reported a level of personal wellbeing above the median, but below that found for the average Portuguese population. Conclusion: Being the parent of a child or young person with autism signifies having unmet needs and this may have implications at both personal and family level. It is suggested that resources should be made available in the social, educational and health areas designed to achieve planned and inclusive services capable of responding to the specific needs of these families. C1 [Marques, Mario Henriques] Inst Super Miguel Torga, Coimbra, Portugal. [Rodrigues Dixe, Maria dos Anjos] Inst Politecn Leiria, Escuela Super Saude, Leiria, Portugal. RP Dixe, MDR (reprint author), Escuela Super Saude Leiria, Campus 2,Apartado 4137, P-2411901 Leiria, Portugal. EM manjos.dixe@gmail.com CR APA (American Psychiatric Association), 2002, MAN DIAGN EST TRANST BALDACARA L, 2006, REV PSIQUIATR CLIN, V33, P268, DOI 10.1590/S0101-60832006000500007 Baron-Cohen S., 2008, AUTISM ASPERGER SYND Bristol M. M., 1984, EFFECTS AUTISM FAMIL, P289 Bristol MM, 1996, J AUTISM DEV DISORD, V26, P121, DOI 10.1007/BF02172002 COLEMAN M, 1985, BIOL AUTISTIC SINDRO CURRAL R, 1999, PSIQUIATRIA CLIN, V20, P213 Folkman S, 2000, AM PSYCHOL, V55, P647, DOI 10.1037//0003-066X.55.6.647 Goldenberg H., 2003, FAMILY THERAPY OVERV Heiman T, 2002, J DEV PHYS DISABIL, V14, P159, DOI 10.1023/A:1015219514621 Ivey J. K., 2004, FOCUS AUTISM OTHER D, V19, P27, DOI DOI 10.1177/10883576040190010401 KUCZYNSKI E, 1999, REV PSIQ CLIN, V26 MCCUBBIN H, 1987, FAMILY ASSESSMENT IN, P211 Minuchin S., 1981, FAMILY THERAPY TECHN O'Brien M, 2007, FAM RELAT, V56, P135 Olson D., 1985, FACES, VIII Olson D. H., 1980, ADV FAMILY INTERVENT, V1, P129 Olsson MB, 2002, J INTELL DISABIL RES, V46, P548, DOI 10.1046/j.1365-2788.2002.00414.x Ozonoff S., 2003, PERTURBACOES ESPECTR Pais-Ribeiro José L., 2004, Psic., Saúde & Doenças, V5, P229 PAISRIBEIRO JL, 2008, ACT 7 C NAC PSIC SAU, P505 PEREIRA F, 1996, REPRESENTACOES PROFE Rutter M., 1978, AUTISM REAPPRAISAL C, P1 Rutter M, 1999, J CHILD PSYCHOL PSYC, V40, P169, DOI 10.1017/S0021963098003461 SVIBERG B, 2002, AUTISM, V6, P397 Turnbull A. P., 2006, FAMILIES PROFESSIONA Turnbull A. P., 2001, FAMILIES PROFESSIONA WING L, 2002, AUTISTIC SPECTRUM Yirmiya N, 2005, J CHILD PSYCHOL PSYC, V46, P69, DOI 10.1111/j.1469-7610.2004.00334.x NR 29 TC 1 Z9 3 PU UNIV SAO PAULO, INST PSIQUIATRIA PI SAO PAULO PA RUA OVIDIO PIRES CAMPOS, 785, 1 ANDAR, SAO PAULO, 05403-010, BRAZIL SN 0101-6083 J9 REV PSIQ CLIN-BRAZIL JI Rev. Psiquiatr. Clin. PY 2011 VL 38 IS 2 BP 66 EP 70 PG 5 WC Psychiatry SC Psychiatry GA 770BY UT WOS:000291063200005 ER PT J AU McKenzie, R Evans, JST Handley, SJ AF McKenzie, Rebecca Evans, Jonathan St. B. T. Handley, Simon J. TI Autism and performance on the suppression task: Reasoning, context and complexity SO THINKING & REASONING LA English DT Article DE Conditional reasoning; Autism; Counterexample; Context; Suppression ID HIGH-FUNCTIONING ADULTS; CHILDREN; CONDITIONALS AB In this study both adolescents with autism spectrum disorder (ASD) and typically developing controls were presented with conditional reasoning problems using familiar content. In this task both valid and fallacious conditional inferences that would otherwise be drawn can be suppressed if counterexample cases are brought to mind. Such suppression occurs when additional premises are presented, whose effect is to suggest such counterexample cases. In this study we predicted and observed that this suppression effect was substantially and significantly weaker for autistic participants. We take this as evidence that autistics are less contextualised in their reasoning, a finding that can be linked to research on autism on a variety of other cognitive tasks. C1 [McKenzie, Rebecca; Evans, Jonathan St. B. T.; Handley, Simon J.] Univ Plymouth, Sch Early Years & Primary Educ, Plymouth PL4 8AA, Devon, England. RP McKenzie, R (reprint author), Univ Plymouth, Sch Early Years & Primary Educ, Plymouth PL4 8AA, Devon, England. EM rebecca.mckenzie@plymouth.ac.uk CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th BYRNE RMJ, 1989, COGNITION, V31, P61, DOI 10.1016/0010-0277(89)90018-8 CASE R, 1982, J EXP CHILD PSYCHOL, V33, P386, DOI 10.1016/0022-0965(82)90054-6 CUMMINS DD, 1991, MEM COGNITION, V19, P274, DOI 10.3758/BF03211151 Evans J. S. B. T., 2004, IF Evans J. St. B. T., 1996, RATIONALITY REASONIN Evans J. St. B. T., 2007, HYPOTHETICAL THINKIN Evans JST, 2002, PSYCHOL BULL, V128, P978, DOI 10.1037//0033-2909.128.6.978 Frith U., 1983, BRIT J DEV PSYCHOL, V1, P329, DOI 10.1111/j.2044-835X.1983.tb00906.x Frith U., 1989, AUTISM EXPLAINING EN Happe F, 2006, J AUTISM DEV DISORD, V36, P5, DOI 10.1007/s10803-005-0039-0 Janveau-Brennan G, 1999, DEV PSYCHOL, V35, P904, DOI 10.1037/0012-1649.35.4.904 Jolliffe T, 1999, COGNITION, V71, P149, DOI 10.1016/S0010-0277(99)00022-0 McKenzie R, 2010, DEV PSYCHOL, V46, P391, DOI 10.1037/a0017412 Minshew N J, 1997, J Int Neuropsychol Soc, V3, P303 Minshew NJ, 2005, J AUTISM DEV DISORD, V35, P45, DOI 10.1007/s10803-004-1030-x Pijnacker J, 2009, NEUROPSYCHOLOGIA, V47, P644, DOI 10.1016/j.neuropsychologia.2008.11.011 Sattler J.M., 1992, ASSESSMENT CHILDREN Scott FJ, 1999, BRIT J DEV PSYCHOL, V17, P349, DOI 10.1348/026151099165339 Stanovich K., 1999, WHO IS RATIONAL STUD Stanovich K. E., 2004, ROBOTS REBELLION FIN Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd Williams DL, 2006, CHILD NEUROPSYCHOL, V12, P279, DOI 10.1080/09297040600681190 World Health Organization, 1993, INT CLASS DIS NR 24 TC 3 Z9 3 PU PSYCHOLOGY PRESS PI HOVE PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND SN 1354-6783 J9 THINK REASONING JI Think Reasoning PY 2011 VL 17 IS 2 BP 182 EP 196 DI 10.1080/13546783.2010.549302 PG 15 WC Psychology, Experimental SC Psychology GA 765AV UT WOS:000290676700004 ER PT J AU Anderson, SA Arroyo, MG Robins, DL AF Anderson, S. A. Arroyo, M. G. Robins, D. L. TI Early Identification of Autism Symptoms: Written Versus Interview-Based Parent Report SO CLINICAL NEUROPSYCHOLOGIST LA English DT Meeting Abstract RI Robins, Diana/D-9959-2011 NR 0 TC 0 Z9 0 PU TAYLOR & FRANCIS INC PI PHILADELPHIA PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA SN 1385-4046 J9 CLIN NEUROPSYCHOL JI Clin. Neuropsychol. PY 2011 VL 25 IS 4 BP 579 EP 580 PG 2 WC Psychology, Clinical; Clinical Neurology; Psychology SC Psychology; Neurosciences & Neurology GA 761QD UT WOS:000290411700122 ER PT J AU Harker, LA Hodges, EK Heinrich, KP Chervin, RD Ghaziuddin, M Giordani, BJ AF Harker, L. A. Hodges, E. K. Heinrich, K. P. Chervin, R. D. Ghaziuddin, M. Giordani, B. J. TI Neuropsychological and Behavioral Correlates of Sleep Disordered Breathing Symptoms in a Clinical Sample of Children With Autism Spectrum Disorder SO CLINICAL NEUROPSYCHOLOGIST LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU TAYLOR & FRANCIS INC PI PHILADELPHIA PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA SN 1385-4046 J9 CLIN NEUROPSYCHOL JI Clin. Neuropsychol. PY 2011 VL 25 IS 4 BP 586 EP 587 PG 2 WC Psychology, Clinical; Clinical Neurology; Psychology SC Psychology; Neurosciences & Neurology GA 761QD UT WOS:000290411700135 ER PT J AU Hutaff-Lee, C Johnson, AY Powell, P Treadwell-Deering, D AF Hutaff-Lee, C. Johnson, Youngman A. Powell, P. Treadwell-Deering, D. TI The Role of Language in Executive Functioning Deficits in Children With Autism Spectrum Disorders SO CLINICAL NEUROPSYCHOLOGIST LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU TAYLOR & FRANCIS INC PI PHILADELPHIA PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA SN 1385-4046 J9 CLIN NEUROPSYCHOL JI Clin. Neuropsychol. PY 2011 VL 25 IS 4 BP 587 EP 588 PG 2 WC Psychology, Clinical; Clinical Neurology; Psychology SC Psychology; Neurosciences & Neurology GA 761QD UT WOS:000290411700137 ER PT J AU Boyd, BA Conroy, MA Asmus, J McKenney, E AF Boyd, Brian A. Conroy, Maureen A. Asmus, Jennifer McKenney, Elizabeth TI Direct Observation of Peer-related Social Interaction: Outcomes for Young Children with Autism Spectrum Disorders SO EXCEPTIONALITY LA English DT Article ID FUNCTIONAL-ANALYSIS; JOINT ATTENTION; SETTING EVENTS; INTERVENTION; SKILLS; BEHAVIORS; DISABILITIES; CLASSROOM; STUDENTS; SYSTEM AB Deficits in social relatedness with same-age peers are a defining characteristic of children with Autism Spectrum Disorders and are likely to manifest themselves during social interactions with typically developing peers in classroom settings. Researchers have documented that children with Autism Spectrum Disorders engage in low rates of appropriate social behaviors with peers. However, there is a paucity of research focusing on the systematic assessment of prosocial behavior of children with Autism Spectrum Disorders during naturally occurring interactions prior to the implementation of an intervention. A critical first step in this process is to examine the context in which prosocial behaviors occur for children with Autism Spectrum Disorders. The purpose of this study was to descriptively examine the initiations, responses, and hypothesized outcomes of prosocial behaviors via direct observation of young children with Autism Spectrum Disorders in natural classroom settings. Results indicated that the participants displayed low rates of prosocial behaviors (i.e., initiations and responses) when interacting with their peers; however, when prosocial behaviors did occur many of the participants' prosocial behaviors were followed by obtaining a tangible item or peer attention. Implications and future directions of this study are addressed. C1 [Boyd, Brian A.] Univ N Carolina, Chapel Hill, NC 27599 USA. [Conroy, Maureen A.] Univ Florida, Gainesville, FL 32611 USA. [Asmus, Jennifer] Univ Wisconsin Madison, Madison, WI USA. [McKenney, Elizabeth] So Illinois Univ Edwardsville, Edwardsville, IL USA. RP Boyd, BA (reprint author), Univ N Carolina, Campus Box 8040, Chapel Hill, NC 27599 USA. 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Whether we talk about practice based evidence or evidence based practice, music therapy clinicians and researchers are nowadays more and more frequently required to provide theoretical and scientific evidence, which explains (or attempts to explain) not only how but also why music works as a therapeutic medium with this particular client group. Autistic individuals very often demonstrate a significant interest in music and its components: rhythm, pitch, harmony, or timbre; they seem to be more able to communicate through sound, whereas they tend to avoid other kinds of interaction, for instance tactile contact. In this paper the authors attempt to give possible explanations on why music can be such a unique tool for the treatment of the autistic individual. Theories from different fields, such as developmental psychology, neuropsychology, musicology, and psychotherapy have been put together in order to find a bridge between theory and practice. The paper underlines the necessity for workable theories which are tailored to the needs of music therapy practice. Suggestions for future theory building work on this particular client group are offered. C1 [Dimitriadis, Theo; Smeijsters, Henk] Zuyd Univ Appl Sci, KenVak Res Ctr, Fac Hlth & Care, Heerlen, Netherlands. RP Dimitriadis, T (reprint author), Zuyd Univ Appl Sci, KenVak Res Ctr, Fac Hlth & Care, Heerlen, Netherlands. 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J. Music Ther. PY 2011 VL 20 IS 2 BP 108 EP 122 DI 10.1080/08098131.2010.487647 PG 15 WC Rehabilitation SC Rehabilitation GA 761MI UT WOS:000290401700002 ER PT J AU Raglio, A Traficante, D Oasi, O AF Raglio, Alfredo Traficante, Daniela Oasi, Osmano TI Autism and music therapy. Intersubjective approach and music therapy assessment SO NORDIC JOURNAL OF MUSIC THERAPY LA English DT Article DE autism; music therapy; intersubjective approach; relationship; music therapy assessment ID SHARED MANIFOLD HYPOTHESIS; INTENTIONAL ATTUNEMENT; PREMOTOR CORTEX; MIRROR NEURONS; CODING SCHEME; RECOGNITION; CHILDREN; COMMUNICATION; PERSPECTIVE; IMITATION AB Autism is a pathology in which the communicative and relational deficit is quite clear. After giving an up-to-date general view to the nosographic aspects and to the interpretative models of the Autistic Disorder, the authors focus on an improvisational music therapy approach in an intersubjective theoretical perspective. Coherently, with the theoretical frame and the clinical evidence, important process indicators were extrapolated into the analysed session. By using an appropriate coding scheme made to evaluate the music therapeutic process, the authors present an example analysis about the coding of some music therapy's sessions of a clinical case of infantile autism. Such analysis highlighted the occurred changes within the sessions and it can be considered a useful tool for a longitudinal evaluation of the music therapeutic treatments. C1 [Raglio, Alfredo] Childrens Neuropsychiat Daily Ctr, Cremona, Italy. [Traficante, Daniela; Oasi, Osmano] Univ Cattolica Sacro Cuore, Dept Psychol, I-20123 Milan, Italy. RP Raglio, A (reprint author), Childrens Neuropsychiat Daily Ctr, Cremona, Italy. 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J. Music Ther. PY 2011 VL 20 IS 2 BP 123 EP 141 DI 10.1080/08098130903377399 PG 19 WC Rehabilitation SC Rehabilitation GA 761MI UT WOS:000290401700003 ER PT J AU Rueda, JR Ballesteros, J Guillen, V Tejada, MI Sola, I AF Ramon Rueda, Jose Ballesteros, Javier Guillen, Virginia Tejada, Maria-Isabel Sola, Ivan TI Folic acid for fragile X syndrome SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review ID ALZHEIMERS-DISEASE; FOLATE-DEFICIENCY; CGG REPEAT; MALES; HOMOCYSTEINE; PREVALENCE; ROTTERDAM; CHILDREN; THERAPY; FEMALES AB Background It has been argued that individuals with fragile X syndrome could have low folate levels in their bodies and that supplementing their dietary intake might remediate the adverse developmental and behavioural effects of the condition. Objectives To review the efficacy and safety of folic acid in the treatment of people with fragile X syndrome. Search strategy We searched four databases in November 2010: CENTRAL, PubMed, EMBASE and PsycINFO. Selection criteria Randomised controlled trials. Data collection and analysis Two review authors independently extracted data and assessed risk of bias using the Cochrane 'Risk of bias' tool. Main results We included five trials, which were published between 1986 and 1992. Overall, they included 67 patients, all male, with ages ranging from one to 54 years. Intellectual disability in participants varied from borderline to severe and some studies included patients with an additional diagnosis of autism or autistic behaviour. Four of the studies were placebo-controlled cross-over trials and one study was a parallel design. The duration of follow-up ranged from two months to 12 months and the period on folic acid or placebo ranged from two to eight months. Doses of folic acid ranged from 10 mg to 250 mg per day, 10 mg per day being the most common. Most of the younger patients involved were also taking part in special education programmes (usually involving language and occupational therapy). We were not able to perform meta-analysis to combine results but none of the individual studies found evidence of clinical benefit with the use of folic acid medication in fragile X syndrome patients on any of the areas of interest, either psychological and learning capabilities or behaviour and social performance, as measured with standardised tools. Separate analysis of evidence for patients of different age groups, i.e. prepubertal children and postpubertal young people, found some statistically significant results, but did not show clear evidence of benefit for either group. Adverse effects of folic acid treatment were rare, not serious and transient. Studies were generally poorly reported and we classified only one study as being at low risk of bias. Authors' conclusions The quality of available evidence is low and not suitable for drawing conclusions about the effect of folic acid on fragile X syndrome patients. It consists of few studies with small samples of patients, all of them male, with little statistical power to detect anything other than huge effects. PLAIN LANGUAGE SUMMARY Folic acide for fragile X syndrome People with fragile X syndrome (or FXS) have intellectual limitations that can range from mild to severe. Fragile X syndrome is considered the most common form of inherited intellectual disability and it has been estimated that it affects approximately 1 in 4000 males and 1 in 8000 females. Folate is particularly important during the early development of the brain and in later life is involved in methylation processes that are essential for the maintenance of normal brain function. It was observed that cells from patients with fragile X syndrome cultured in solutions deficient in folic acid revealed a fragile site at the X chromosome; consequently it was thought that individuals with fragile X syndrome had low folate levels in their bodies, which may be due to insufficient dietary intake, inefficient absorption or impaired metabolic utilisation. It was argued that supplementing their dietary intake might help improve the adverse developmental and behavioural effects of the condition. This review asks whether folic acid helps improve symptoms in people with fragile X syndrome and whether it has any side effects. We found five randomised controlled trials, all of which were published between 1986 and 1992. These studies included 69 people, all male. One of the studies compared a folic acid group with a control group; the other four used a cross-over design (i.e. participants received first one treatment and then the other). The quality of reporting of the trials was generally poor, particularly the methods used, which made it difficult to assess the risk of bias in the studies. The results of the few published studies did not find significant differences in the effects of folic acid or placebo on psychological or learning capabilities, behaviour or social performance, as measured by standardised tools. There is therefore no evidence to support the recommendation of supplementing dietary intake with folic acid medication for people with fragile X syndrome. However, due to the number and quality of the studies, it is not possible to conclude with any certainty that folic acid does not help. Given that intellectual, behavioural, emotional and/or learning performance in people with fragile X syndrome are strongly influenced by different social factors, future studies should also pay attention to the evaluation of non-pharmacological interventions, such as modifications in the home environment, tailored behavioural interventions and classroom environments, or language and occupational therapy. C1 [Ramon Rueda, Jose] Univ Basque Country, Dept Prevent Med & Publ Hlth, Leioa 48940, Bizkaia, Spain. [Ballesteros, Javier; Guillen, Virginia] Univ Basque Country, Dept Neurosci, Psychiat Sect, Leioa 48940, Bizkaia, Spain. [Ballesteros, Javier] Ctr Biomed Res Network Mental Hlth CIBERSAM, Leioa, Spain. [Tejada, Maria-Isabel] Hosp Cruces Osakidetza, Serv Vasco Salud, Mol Genet Lab, Baracaldo, Spain. [Sola, Ivan] IIB Sant Pau, Iberoamer Cochrane Ctr, Barcelona, Spain. RP Rueda, JR (reprint author), Univ Basque Country, Dept Prevent Med & Publ Hlth, GIU 10-24,Barrio Sarriena S-N, Leioa 48940, Bizkaia, Spain. 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PY 2011 VL 347 BP 135 EP 168 DI 10.1007/82_2010_62 D2 10.1007/978-3-642-14816-3 PG 34 WC Oncology; Immunology; Medicine, Research & Experimental; Microbiology SC Oncology; Immunology; Research & Experimental Medicine; Microbiology GA BSJ47 UT WOS:000284609400007 ER PT J AU Rodger, S Umaibalan, V AF Rodger, Sylvia Umaibalan, Vidya TI The routines and rituals of families of typically developing children compared with families of children with autism spectrum disorder: an exploratory study SO BRITISH JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE Family Routine; Inventory; Family Ritual Questionnaire; autism; vacations ID ADJUSTMENT; OCCUPATION; INVENTORY; ASTHMA; LIFE AB Purpose: The construction of routines and rituals plays a significant role in the organisation of daily activities and the health and wellbeing of families. Studies have revealed that the pervasive nature of autism spectrum disorder (ASD) influences the development of functional routines and meaningful rituals. However, there is limited information on the extent of this influence on families of children with autism compared with families with typically developing (TD) children. Procedures: The mothers of children aged 2-6 years completed the Family Routines Inventory (FRI) and the Family Ritual Questionnaire (FRQ) to compare the role of routines and rituals in families with TD children (n = 10) and families of children with ASD (n = 12). Findings: The findings revealed higher mean scores across all variables for the TD group compared with the ASD group, except for 'FRQ Planning'; however, the differences were not significant. 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PD JAN PY 2011 VL 74 IS 1 BP 20 EP 26 DI 10.4276/030802211X12947686093567 PG 7 WC Rehabilitation SC Rehabilitation GA 749HX UT WOS:000289456600004 ER PT J AU Stoet, G Lopez, B AF Stoet, Gijsbert Lopez, Beatriz TI Task-switching abilities in children with autism spectrum disorder SO EUROPEAN JOURNAL OF DEVELOPMENTAL PSYCHOLOGY LA English DT Article DE Autism spectrum disorder; Attention; Executive function; Memory; Task switching ID EXECUTIVE FUNCTION DEFICITS; POSTERIOR PARIETAL CORTEX; WORKING-MEMORY; PERFORMANCE; MONKEYS; SCHIZOPHRENIA; IMPAIRMENTS; DYSFUNCTION; INHIBITION; DYSLEXIA AB Task-switching performance is often used as a measure of executive control functions. Various task-switching studies in children with autism spectrum disorder (ASD) found, in contrast to expectations, no impairments in cognitive flexibility. Here, we studied whether the role of memory for arbitrary task rules can explain these findings, and how studying rule memory can help to generally better understand executive control. We designed a novel task-switching paradigm to separate cognitive flexibility from demand on memory for arbitrary rules, and we compared 19 children with ASD (9 to 16 years old) with an age- and IQ-matched control group. Children with ASD had increased difficulty with task switching only when memorizing arbitrary rules was required. When no arbitrary rules needed to be memorized, they performed accurately and quickly. Nevertheless, they showed less distraction from task-irrelevant stimulus features, suggesting that they represented tasks differently from the children in the comparison group. We conclude that children with ASD have a weaker capacity of forming rule representations, which only leads to performance impairment when they need to memorize arbitrary rules. Further, executive control impairments in ASD seem more complex than hitherto hypothesized due to mutual interactions between memory demand and task representations. C1 [Stoet, Gijsbert] Univ Leeds, Inst Psychol Sci, Leeds LS2 9JT, W Yorkshire, England. [Lopez, Beatriz] Univ Portsmouth, Portsmouth, Hants, England. RP Stoet, G (reprint author), Univ Leeds, Inst Psychol Sci, Leeds LS2 9JT, W Yorkshire, England. 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PY 2011 VL 13 IS 2 BP 129 EP 145 DI 10.1080/13698575.2010.515738 PG 17 WC Public, Environmental & Occupational Health; Social Sciences, Biomedical SC Public, Environmental & Occupational Health; Biomedical Social Sciences GA 746MI UT WOS:000289250700002 ER PT J AU Wakabayashi, A Katsumata, A AF Wakabayashi, Akio Katsumata, Asami TI The Motion Picture Mind-Reading Test Measuring Individual Differences of Social Cognitive Ability in a Young Adult Population in Japan SO JOURNAL OF INDIVIDUAL DIFFERENCES LA English DT Article DE mind reading; social cognition; individual differences; empathy; Eyes Test; empathy quotient (EQ); systemizing quotient (SQ); young adult population in Japan ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; ASPERGER-SYNDROME; NONVERBAL CUES; ACCURACY; GENDER; COMMUNICATION; INTELLIGENCE; RECOGNITION; KNOWLEDGE AB The Motion Picture Mind Reading (MPMR) Test is a novel naturalistic mind-reading task, designed to measure individual differences in a young adult population in Japan. Short scenes from TV films showing characters in social situations were presented to 128 university students; participants judged the mental state of a character in these films. The distribution of task performance (MPMR Test) of participants was approximately normal and its psychometric properties were found to be satisfactory. The MPMR Test scores correlated positively with those of the Eyes Test and also with scores on the empathy quotient (EQ); they correlated negatively with scores on the systemizing quotient (SQ). The MPMR Test provides a further method for assessing subtle individual differences in mind-reading ability in the general population. C1 [Wakabayashi, Akio; Katsumata, Asami] Chiba Univ, Dept Psychol, Chiba 2638522, Japan. RP Wakabayashi, A (reprint author), Chiba Univ, Dept Psychol, 1-33 Yayoi Cho, Chiba 2638522, Japan. 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We examined the relations among shyness, sociability, and the accuracy of categorization of facial expression of emotions in a sample of 127 undergraduates. Individual differences in sociability, but not shyness, were significantly related to categorization accuracy under conditions of limited presentation time, but not under circumstances of unlimited stimulus presentation time. Adults self-rated as low to moderate in sociability were significantly less accurate in categorizing facial expressions of emotion, albeit only under conditions of rapid stimulus presentation. These results suggest that individual differences in sociability and social exposure may influence the ability to categorize facial expressions of emotions. C1 [Young, Meredith E.] McGill Univ, Dept Med, Ctr Med Educ, Montreal, PQ H3A 1A3, Canada. [Brunet, Paul M.] Queens Univ Belfast, Sch Psychol, Belfast BT7 1NN, Antrim, North Ireland. 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PY 2011 VL 115 SU 1 BP 142P EP 142P PG 1 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 743QU UT WOS:000289034600480 ER PT J AU Chan, YH Gean, PW Chen, PS AF Chan, Yun-Han Gean, Po-Wu Chen, Po-See TI The role of amygdala in the VPA-induced autism model SO JOURNAL OF PHARMACOLOGICAL SCIENCES LA English DT Meeting Abstract CT 84th Annual Meeting of the Japanese-Pharmacological-Society/11th Southeast Asian Western Pacific Regional Meeting of Pharmacologists CY MAR 22-24, 2011 CL Yokohama, JAPAN SP Japanese Pharmacolog Soc C1 [Chan, Yun-Han; Gean, Po-Wu] Natl Cheng Kung Univ, Dept Pharmacol, Coll Med, Tainan 701, Taiwan. [Chen, Po-See] Natl Cheng Kung Univ, Dept Psychiat, Hosp & Coll Med, Tainan 70101, Taiwan. [Chen, Po-See] Natl Cheng Kung Univ Hosp, Dept Psychiat, Dou Liou Branch, Tainan 70428, Taiwan. NR 0 TC 0 Z9 0 PU JAPANESE PHARMACOLOGICAL SOC PI KYOTO PA EDITORIAL OFF, KANTOHYA BLDG GOKOMACHI-EBISUGAWA NAKAGYO-KU, KYOTO, 604, JAPAN SN 1347-8613 J9 J PHARMACOL SCI JI J. Pharmacol. Sci. PY 2011 VL 115 SU 1 BP 193P EP 193P PG 1 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 743QU UT WOS:000289034601154 ER PT J AU Miller, L McGonigle-Chalmers, M AF Miller, Louisa McGonigle-Chalmers, Maggie TI 'Welcome to the Tiger Spotting Game!': A psychophysical study of visual processing in autism spectrum disorders SO PERCEPTION LA English DT Meeting Abstract C1 [Miller, Louisa; McGonigle-Chalmers, Maggie] Univ Edinburgh, Edinburgh, Midlothian, Scotland. EM s0452198@sms.ed.ac.uk NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 J9 PERCEPTION JI Perception PY 2011 VL 40 IS 1 BP 124 EP 125 PG 2 WC Psychology; Psychology, Experimental SC Psychology GA 745QY UT WOS:000289181900072 ER PT J AU Jansson, AB AF Jansson, Anders B. TI Becoming a Narrator: A Case Study in the Dynamics of Learning Based on the Theories/Methods of Vygotsky SO MIND CULTURE AND ACTIVITY LA English DT Article AB This article focuses on the learning that is enabled while a primary school child makes a story using multimodal software. This child is diagnosed with autism. The aim is to use a cultural-historical framework to carry out an in-depth analysis of a process of learning with action as a unit of analysis. The article is based on a collaborative research project in which assignments on narration concurrently served as experiments with cultural tools. The child's learning process in one assignment is analyzed sequentially, highlighting changes in the action, based on data from videotape. The child's decision to record audio was a turning point that expanded the formal learning and animated the idea of making the story in a desired multimodal format. The multifaceted quality and the dialectics revealed in the process are vital to achieve expansive action and learning. The combination of a generative narrative model and the multimodal affordances is crucial for actualizing the potential in the research approach to accomplish an analysis of the learner's changes in action. Thus, the study indicates the relevance of using a cultural-historical framework in research and practice that focuses on processes of learning and processes of becoming among diverse learners. C1 Stockholm Univ, Dept Educ, SE-10691 Stockholm, Sweden. RP Jansson, AB (reprint author), Stockholm Univ, Dept Educ, SE-10691 Stockholm, Sweden. EM anders.jansson@did.su.se CR Bruner J, 1996, CULTURE ED COLE M, 2004, ESSENTIAL VYGOTSKY, pR7 Davydov V. V., 1999, LEARNING ACTIVITY DE, P123 Elkonin DB, 1971, VOP PSIKHOL+, V4, P6 Leont'ev A. 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PY 2011 VL 18 IS 1 BP 5 EP 25 DI 10.1080/10749030903244210 PG 21 WC Education & Educational Research SC Education & Educational Research GA 742BQ UT WOS:000288913500002 ER PT J AU Liszkowski, U Tomasello, M AF Liszkowski, Ulf Tomasello, Michael TI Individual differences in social, cognitive, and morphological aspects of infant pointing SO COGNITIVE DEVELOPMENT LA English DT Article DE Gesture; Pointing; Communication; Individual differences; Mother-child relations; Developmental origins ID 2ND YEAR; COMMUNICATIVE INTENTIONS; JOINT ATTENTION; LIFE; LANGUAGE; GESTURES; AUTISM; SPEECH; MIDDLE; MIND AB Little is known about the origins of the pointing gesture. We sought to gain insight into its emergence by investigating individual differences in the pointing of 12-month-old infants in two ways. First, we looked at differences in the communicative and interactional uses of pointing and asked how different hand shapes relate to point frequency, accompanying vocalizations, and mothers' pointing. Second, we looked at differences in social-cognitive skills of point comprehension and imitation and tested whether these were related to infants' own pointing. Infants' and mothers' spontaneous pointing correlated with one another, as did infants' point production and comprehension. In particular, infants' index-finger pointing had a profile different from simple whole-hand pointing. It was more frequent, it was more often accompanied by vocalizations, and it correlated more strongly with comprehension of pointing (especially to occluded referents). We conclude that whole-hand and index-finger pointing differ qualitatively and suggest that it is index-finger pointing that first embodies infants' understanding of communicative intentions. (C) 2011 Elsevier Inc. All rights reserved. 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TI Remediation of Deficits in Recognition of Facial Emotions in Children with Autism Spectrum Disorders SO CHILD & FAMILY BEHAVIOR THERAPY LA English DT Article DE autism spectrum disorders; emotion recognition; mind reading; social skills ID HIGH-FUNCTIONING CHILDREN; ASPERGER-SYNDROME; LANGUAGE; BRAIN AB This study evaluated the efficacy of the Mind Reading interactive computer software to remediate emotion recognition deficits in children with autism spectrum disorders (ASD). Six unmedicated children with ASD and 11 unmedicated non-clinical control subjects participated in the study. The clinical sample used the software for five sessions. The control sample was evaluated only on pre- and post-test performance to assess practice effects. Results showed that participants with ASD scored significantly higher on the posttest than on the pretest. As level of emotion difficulty increased, mean scores on the pretest decreased, indicating that difficulty level had a valid effect. The Mind Reading computer software appears to significantly improve the emotion recognition abilities in children with ASD. C1 [Depue, Richard A.] Cornell Univ, Dept Human Dev, Ithaca, NY 14850 USA. [Weinger, Paige M.] Yeshiva Univ, Bronx, NY USA. RP Depue, RA (reprint author), Cornell Univ, Dept Human Dev, G22 MVR Hall, Ithaca, NY 14850 USA. 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Behav. Ther. PY 2011 VL 33 IS 1 BP 20 EP 31 DI 10.1080/07317107.2011.545008 PG 12 WC Psychology, Clinical; Family Studies SC Psychology; Family Studies GA 719LQ UT WOS:000287206600002 ER PT J AU Tissot, C AF Tissot, Catherine TI Working together? Parent and local authority views on the process of obtaining appropriate educational provision for children with autism spectrum disorders SO EDUCATIONAL RESEARCH LA English DT Article DE educational provision; autism spectrum disorders; parent and local authority views ID DEVELOPMENTAL-DISABILITIES; INFANTILE-AUTISM; PREVALENCE; NEEDS; DIAGNOSIS; FAMILIES; STRESS AB Background: There is general agreement across all interested parties that a process of working together is the best way to determine which school or educational setting is right for an individual child with autism spectrum disorder. In the UK, families and local authorities both desire a constructive working relationship and see this as the best means by which to reach an agreement to determine where a child should be educated. It has been shown in published works 1 that a constructive working relationship is not always achieved. Purpose: This small-scale study aims to explore the views of both parents and local authorities, focussing on how both parties perceive and experience the process of determining educational provision for children with autism spectrum disorders (ASD) within an English context. Sample, design and method: Parental opinion was gathered through the use of a questionnaire with closed and open responses. The questionnaire was distributed to two national charities, two local charities and 16 specialist schools, which offered the questionnaire to parents of children with ASD, resulting in an opportunity sample of 738 returned surveys. The views of local authority personnel from five local authorities were gathered through the use of semi-structured interviews. Data analyses included quantitative analysis of the closed response questionnaire items, and theme-based qualitative analysis of the open responses and interviews with local authority personnel. Results: In the majority of cases, parents in the survey obtained their first choice placement for their child. Despite this positive outcome, survey data indicated that parents found the process bureaucratic, stressful and time consuming. Parents tended to perceive alternative placement suggestions as financially motivated rather than in the best interests of the child. Interviews with local authority personnel showed an awareness of these concerns and the complex considerations involved in determining what is best for an individual child. Conclusions: This small-scale study highlights the need for more effective communication between parents of children with ASDs and local authority personnel at all stages of the process. C1 Univ Reading, Reading, Berks, England. RP Tissot, C (reprint author), Univ Reading, Reading, Berks, England. 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TI Cross-Disciplinary Dialogue about the Nature of Oral and Written Language Problems in the Context of Developmental, Academic, and Phenotypic Profiles SO TOPICS IN LANGUAGE DISORDERS LA English DT Article DE academic learning profiles; cross-disciplinary models for language in varying contexts; developmental profiles; late talkers; phenotype profiles; oral and written language ID AUTISM SPECTRUM DISORDERS; WORKING-MEMORY ARCHITECTURE; LATE TALKERS; GESTURE DEVELOPMENT; GRADES 1; CHILDREN; DYSLEXIA; IMPAIRMENT; ABILITIES; PRESCHOOL AB Professionals across disciplines who assess and teach students with language problems should develop their own standards for best professional practices to improve the diagnostic and treatment (instructional) services in schools and nonschool settings rather than assessing only for eligibility for categories of special education services according to federal and state special education laws. Participation of professionals from multiple disciplines on teams is necessary but not sufficient unless cross-disciplinary conceptual frameworks are developed and used. Best practices for assessment and intervention for language problems should take into account the patterning of test and other assessment data within 3 kinds of profiles: (1) domains of development-cognition/memory, oral language, sensory and motor, attention and executive function, and social emotional; (2) academic skills-reading, writing, and math; and (3) phenotypes specific to neurogenetic or neurodevelopmental conditions that may apply to the case at hand. C1 [Silliman, Elaine R.] Univ S Florida, Tampa, FL 33260 USA. [Berninger, Virginia W.] Univ Washington, Seattle, WA 98195 USA. RP Silliman, ER (reprint author), Univ S Florida, 4202 E Fowler Ave,PCD 1017, Tampa, FL 33260 USA. 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PY 2011 VL 12 IS 1 BP 56 EP 79 DI 10.1080/15248372.2011.539523 PG 24 WC Psychology, Developmental; Psychology, Experimental SC Psychology GA 717GS UT WOS:000287032200004 ER PT J AU Tatar, A Kayiran, SM Saltukoglu, G Turkmenoglu, N Aydin, S AF Tatar, Arkun Kayiran, Sinan Mahir Saltukoglu, Gaye Turkmenoglu, Neslihan Aydin, Sultan TI Examination of depression levels in mothers of handicapped children SO HEALTHMED LA English DT Article DE Depression; Handicapped children; Depression scale ID STRESS; FAMILIES; AUTISM; SCALE AB This study has been designed to examine depression levels in mothers of handicapped children. Participants were 160 mothers with handicapped children who served as the study group and 170 mothers without handicapped children who served as the control group. All the participants completed a brief questionnaire and were queried in terms of the Beck Depression Inventory, the Hospital Anxiety and Depression Scale and the Zung Self-Rating Depression Scale. It was established that the mothers with handicapped children did not show differences in their depression levels according to the types of their children's handicap. It was also seen that there were high co-relational associations between the scores of all three depression scales in the whole group. Moreover, the study group, consisting of mothers with handicapped children, obtained higher average scores than the control group in all three depression scales used in the study. In the light of all the results, it is foreseen that providing mothers with social and psychological support will directly increase the quality of life of both mothers and their handicapped children. C1 [Kayiran, Sinan Mahir] Amer Hosp, Dept Pediat, Istanbul, Turkey. [Tatar, Arkun; Saltukoglu, Gaye; Turkmenoglu, Neslihan; Aydin, Sultan] Halic Univ, Dept Psychol, Istanbul, Turkey. RP Kayiran, SM (reprint author), Amer Hosp, Dept Pediat, Istanbul, Turkey. EM sinanmahir@gmail.com CR Aydemir O., 1977, TURK PSIKIYATR DERG, V8, P280 BAGENHOLM A, 1991, J MENT DEFIC RES, V35, P291 BEBKO JM, 1987, J AUTISM DEV DISORD, V17, P565, DOI 10.1007/BF01486971 BECK AT, 1961, ARCH GEN PSYCHIAT, V4, P561 BECKMAN PJ, 1983, AM J MENT DEF, V88, P150 CEYHUN B, 2001, DUYGUDURUM DIZISI, V4, P192 CEYHUN B, 1996, 8 UL PSIK K BIL CAL CUMMINGS ST, 1976, AM J ORTHOPSYCHIAT, V46, P246 DOKMEN ZY, 2004, KRIZ DERGISI, V12, P33 Girgin G., 2005, TSK KORUYUCU HEKIMLI, V4, P172 GOLDBERG S, 1990, J PEDIATR PSYCHOL, V15, P347, DOI 10.1093/jpepsy/15.3.347 GREENE SM, 1989, BRIT J PSYCHIAT, V154, P650, DOI 10.1192/bjp.154.5.650 Hisli N, 1989, TURK PSIKOL DERG, V7, P3 Hisli N, 1998, PSIKOLOJI DERGISI, V6, P118 Sarı H. Y., 2008, Türk Silahlı Kuvvetleri, Koruyucu Hekimlik Bülteni, V7, P127 SEVINDIK F, 2006, SAGLIK TOPLUM DERGIS, V16, P38 Thurber S, 2002, ASSESSMENT, V9, P401, DOI 10.1177/1073191102238471 Uguz S., 2004, KLIN PSIKIYATRI DERG, V7, P42 WILTON K, 1986, J MENT DEFIC RES, V30, P163 ZIGMOND AS, 1983, ACTA PSYCHIAT SCAND, V67, P361, DOI 10.1111/j.1600-0447.1983.tb09716.x NR 20 TC 1 Z9 1 PU DRUNPP-SARAJEVO PI SARAJEVO PA BOLNICKA BB, SARAJEVO, 71000, BOSNIA & HERCEG SN 1840-2291 J9 HEALTHMED JI HealthMED PY 2011 VL 5 IS 1 BP 95 EP 100 PG 6 WC Medicine, General & Internal SC General & Internal Medicine GA 727RT UT WOS:000287819600013 ER PT J AU Sanefuji, W Ohgami, H AF Sanefuji, Wakako Ohgami, Hidehiro TI IMITATIVE BEHAVIORS FACILITATE COMMUNICATIVE GAZE IN CHILDREN WITH AUTISM SO INFANT MENTAL HEALTH JOURNAL LA English DT Article ID JOINT ATTENTION; INFANTS; CONTINGENCY; PERCEPTION; 3-MONTH-OLD; OBJECT AB Adult imitation of children with autistic spectrum disorders (ASD) is likely to be effective in facilitating their communicative gaze behaviors. This study compared imitative behaviors to contingent, but not-imitative, behaviors in children with ASD and those with typical development (TD). The caretakers were asked to play an imitative role to explore the effects of imitation intervention on parenting. The results indicated that children with ASD gazed longer at imitative behaviors than mere contingent behaviors while children with TD gazed at their mother irrespective of her type of intervention. The present study highlights the benefits of caretakers using imitation while caring for children with ASD. The power of imitation for children with ASD suggests its therapeutic application to home-based intervention by caretakers. C1 [Sanefuji, Wakako] Univ Tokyo, Tokyo 1138654, Japan. [Ohgami, Hidehiro] Kyushu Univ, Fukuoka 812, Japan. RP Sanefuji, W (reprint author), Osaka Univ, Mol Res Ctr Childrens Mental Dev, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan. EM sanefuji@kokoro.med.osaka-u.ac.jp CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT BAHRICK LE, 1985, DEV PSYCHOL, V21, P963, DOI 10.1037/0012-1649.21.6.963 BARRATT MS, 1992, J CHILD PSYCHOL PSYC, V33, P1193, DOI 10.1111/j.1469-7610.1992.tb00938.x Burack JA, 2001, DEVELOPMENT OF AUTISM: PERSPECTIVES FROM THEORY AND RESEARCH, P3 DAWSON G, 1984, J ABNORM CHILD PSYCH, V12, P209, DOI 10.1007/BF00910664 Dawson G, 1998, J AUTISM DEV DISORD, V28, P479, DOI 10.1023/A:1026043926488 EGEREN LAV, 2001, DEV PSYCHOL, V37, P684 Escalona A, 2002, J AUTISM DEV DISORD, V32, P141, DOI 10.1023/A:1014896707002 FIELD T, 1979, INFANT BEHAV DEV, V2, P179, DOI 10.1016/S0163-6383(79)80019-3 Field T, 2001, AUTISM, V5, P317, DOI 10.1177/1362361301005003008 Gergely G, 2001, B MENNINGER CLIN, V65, P411, DOI 10.1521/bumc.65.3.411.19853 HARRIS SL, 1994, CURR I AUT, P161 Heimann M, 2006, INFANT CHILD DEV, V15, P297, DOI 10.1002/icd.463 Hobson R. 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S., 1985, SOCIAL PERCEPTION IN, P157 Watson JS, 2001, B MENNINGER CLIN, V65, P296, DOI 10.1521/bumc.65.3.296.19848 NR 30 TC 3 Z9 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PD JAN-FEB PY 2011 VL 32 IS 1 SI SI BP 134 EP 142 DI 10.1002/imhj.20287 PG 9 WC Psychology, Developmental SC Psychology GA 710ZP UT WOS:000286555800009 ER PT J AU Kern, JK Geier, DA Ayzac, F Adams, JB Mehta, JA Geier, MR AF Kern, Janet K. Geier, David A. Ayzac, Francoise Adams, James B. Mehta, Jyutika A. Geier, Mark R. TI Toxicity biomarkers among US children compared to a similar cohort in France: a blinded study measuring urinary porphyrins SO TOXICOLOGICAL AND ENVIRONMENTAL CHEMISTRY LA English DT Article ID PROLONGED METHYLMERCURY EXPOSURE; AUTISM SPECTRUM DISORDERS; HEME BIOSYNTHETIC-PATHWAY; OXIDATIVE STRESS; COPROPORPHYRINOGEN OXIDASE; CENTRAL MECHANISM; MERCURY EXPOSURE; DEVELOPING BRAIN; FREE-RADICALS; METALS AB The purpose of this blinded study was to evaluate potential environmental toxicity in a cohort of neurotypical children (n = 28) living in a suburban area of north-central Texas in the United States (US) with a comparable age-and gender-matched cohort of neurotypical children (n = 28) living in a suburban area of southeastern France using urinary porphyrin testing: uroporphyrin (uP), heptacarboxyporphyrin (7cxP), hexacarboxyporphyrin (6cxP), pentacarboxyporphyrin (5cxP), precoproporphyrin (prcP), and coproporphyrin (cP). Results showed significantly elevated 6cxP, prcP (an atypical, mercury-specific porphyrin), and cP levels, and increasing trends in 5cxP levels, among neurotypical children in the USA compared to children in France. Data suggest that in US neurotypical children, there is a significantly increased body-burden of mercury (Hg) compared to the body-burden of Hg in the matched neurotypical children in France. The presence of lead contributing to the higher levels of cP also needs to be considered. Further, other factors including genetics can not be completely ruled out. RP Kern, JK (reprint author), Genet Consultants Dallas, 408 N Allen Dr, Allen, TX 75013 USA. EM jkern@dfwair.net FU Autism Research Institute (ARI); Brenen Hornstein Autism Research and Education (BHARE) Foundation FX This research was funded by a grant from the Autism Research Institute (ARI) and the Brenen Hornstein Autism Research and Education (BHARE) Foundation. The authors wish to acknowledge the help of the parents and children who participated in this study; without their participation this type of investigation would not be possible. 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Chem. PY 2011 VL 93 IS 2 BP 396 EP 405 DI 10.1080/02772248.2010.508609 PG 10 WC Environmental Sciences; Toxicology SC Environmental Sciences & Ecology; Toxicology GA 723GU UT WOS:000287495400019 ER PT J AU Ham, HS Bartolo, A Corley, M Rajendran, G Szabo, A Swanson, S AF Ham, Heidi Stieglitz Bartolo, Angela Corley, Martin Rajendran, Gnanathusharan Szabo, Aniko Swanson, Sara TI Exploring the Relationship Between Gestural Recognition and Imitation: Evidence of Dyspraxia in Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Dyspraxia; Gestural recognition; Imitation ID MIRROR-NEURON SYSTEM; COMMUNICATIVE DEFICITS; INTRANSITIVE GESTURES; LIMB APRAXIA; MOTOR; INDIVIDUALS; INVOLVEMENT; PERFORMANCE; PANTOMIMES; MECHANISMS AB In this study, the relationship between gesture recognition and imitation was explored. Nineteen individuals with Autism Spectrum Disorder (ASD) were compared to a control group of 23 typically developing children on their ability to imitate and recognize three gesture types (transitive, intransitive, and pantomimes). The ASD group performed more poorly than controls on all tasks of recognition and imitation. Higher performance on tests of working memory was associated with increased odds of successful imitation in both groups. Group differences remained even when working memory was statistically controlled for. An association was revealed in the ASD group between pantomime recognition and imitation but a similar association was not identified for intransitive gestures suggesting that recognition alone is not sufficient for imitation success. C1 [Ham, Heidi Stieglitz; Corley, Martin] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland. [Bartolo, Angela] Univ Lille Nord France, Lab URECA, Lille, France. 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W.; Lee, A.; Boyd, S. B.; Amaral, D. G.] UC Davis MIND Inst, Sacramento, CA USA. [Angkustsiri, K.; Boyd, S. B.] UC Davis Med Ctr, Sacramento, CA USA. [Camilleri, K.] WSMRF, Monterey, CA USA. NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1081-5589 J9 J INVEST MED JI J. Invest. Med. PD JAN PY 2011 VL 59 IS 1 MA 402 BP 201 EP 201 PG 1 WC Medicine, General & Internal; Medicine, Research & Experimental SC General & Internal Medicine; Research & Experimental Medicine GA 697TZ UT WOS:000285542500417 ER PT J AU Sahin, YG Cimen, FM AF Sahin, Yasar Guneri Cimen, Fatih Mehmet TI AN INTERACTIVE ATTENTION BOARD: IMPROVING THE ATTENTION OF INDIVIDUALS WITH AUTISM AND MENTAL RETARDATION SO TURKISH ONLINE JOURNAL OF EDUCATIONAL TECHNOLOGY LA English DT Article DE interactive learning environments; teaching/learning strategies; human-computer interface; computer aided learning ID EYE-HAND COORDINATION; DEFICIT-HYPERACTIVITY DISORDER; DEFICIT/HYPERACTIVITY DISORDER; CHILDREN; ADHD; TASKS; PERFORMANCE; INHIBITION; MEDICATION; LOCATION AB This paper presents a tool named "Interactive Attention Board" (IAB) and an associated software named "Interactive Attention Boards Software" (IABS) for individuals with Mental Retardation and Autism. The proposed system is based on several theories such as perception and learning theories, and it is intended to improve hand-eye coordination and attention duration of disabled individuals. Furthermore, the IAB system offers an interactive environment both for disabled individuals and educators, and enables a rapid improvement of disabled individuals' responses to various stimulants, and increases attention duration on a certain object. IAB aims to decrease disabled individuals' reaction time to stimulants, and to increase total concentration and attention period on a single object. Thus, these improvements in the attention help the educator to teach individuals about various cognitive concepts such as long, short, small, big, and colors, as well as educational concepts such as animals, vehicles and professions. C1 [Sahin, Yasar Guneri] Izmir Univ Econ, Dept Software Engn, Balcova, Turkey. [Cimen, Fatih Mehmet] Ankara Univ, Dept Educ Psychol, TR-06100 Ankara, Turkey. RP Sahin, YG (reprint author), Izmir Univ Econ, Dept Software Engn, Balcova, Turkey. 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PD JAN PY 2011 VL 33 IS 1 BP 92 EP 92 DI 10.1016/j.braindev.2010.08.003 PG 1 WC Clinical Neurology SC Neurosciences & Neurology GA 715TN UT WOS:000286910700017 PM 20822869 ER PT J AU Bartell, S Lewandowski, T AF Bartell, Scott Lewandowski, Thomas TI Bias From Administrative Censoring in Ecological Analyses of Autism, and a Bayesian Solution SO EPIDEMIOLOGY LA English DT Meeting Abstract CT Joint Conference of International-Society-of-Exposure-Science/International-Society-for-Envi ronmental-Epidemiology CY AUG 28-SEP 01, 2010 CL Seoul, NORTH KOREA SP Int Soc Exposure Sci, Int Soc Environm Epidemiol C1 [Bartell, Scott] Univ Calif Irvine, Irvine, CA USA. [Lewandowski, Thomas] Gradient Corp, Seattle, WA USA. [Lewandowski, Thomas] CUNY Brooklyn Coll, Brooklyn, NY 11210 USA. RI Bartell, Scott/M-8919-2013 OI Bartell, Scott/0000-0001-7797-2906 NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1044-3983 J9 EPIDEMIOLOGY JI Epidemiology PD JAN PY 2011 VL 22 IS 1 SU S BP S176 EP S176 DI 10.1097/01.ede.0000392216.05520.18 PG 1 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 695VN UT WOS:000285400800524 ER PT J AU Kim, YS Ha, M Kwon, HJ Paik, KC Lim, MH Kim, JH Lee, SG Yoo, SJ Kim, EJ AF Kim, Young-Suk Ha, Mina Kwon, Ho-Jang Paik, Ki-Chung Lim, Myung-Ho Kim, Jee Hyun Lee, Sang-Gyu Yoo, Seung-Jin Kim, Eun-Jung TI Maternal Drinking and Environmental Tobacco Smoke During Pregnancy and Autism Spectrum Disorder in Children SO EPIDEMIOLOGY LA English DT Meeting Abstract CT Joint Conference of International-Society-of-Exposure-Science/International-Society-for-Envi ronmental-Epidemiology CY AUG 28-SEP 01, 2010 CL Seoul, NORTH KOREA SP Int Soc Exposure Sci, Int Soc Environm Epidemiol C1 [Kim, Young-Suk] Dancook Univ, Grad Sch, Cheonan, South Korea. 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NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1044-3983 J9 EPIDEMIOLOGY JI Epidemiology PD JAN PY 2011 VL 22 IS 1 SU S BP S284 EP S284 DI 10.1097/01.ede.0000392571.97081.59 PG 1 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 695VN UT WOS:000285400800879 ER PT J AU Roberts, E English, P AF Roberts, Eric English, Paul TI Modeling Time-dependent Vulnerability to Environmental Hazards Using Autism and Pesticide Data SO EPIDEMIOLOGY LA English DT Meeting Abstract CT Joint Conference of International-Society-of-Exposure-Science/International-Society-for-Envi ronmental-Epidemiology CY AUG 28-SEP 01, 2010 CL Seoul, NORTH KOREA SP Int Soc Exposure Sci, Int Soc Environm Epidemiol C1 [Roberts, Eric] Inst Publ Hlth, Richmond, CA USA. [English, Paul] Calif Dept Publ Hlth, Richmond, CA USA. NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1044-3983 J9 EPIDEMIOLOGY JI Epidemiology PD JAN PY 2011 VL 22 IS 1 SU S BP S176 EP S176 DI 10.1097/01.ede.0000392215.05520.c3 PG 1 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 695VN UT WOS:000285400800523 ER PT J AU Jull, S Mirenda, P AF Jull, Stephanie Mirenda, Pat TI Parents as Play Date Facilitators for Preschoolers With Autism SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS LA English DT Article DE autism; play dates; parent training; peer interactions ID YOUNG-CHILDREN; SOCIAL INITIATIONS; EARLY INTERVENTION; SKILLS; FAMILIES; BEHAVIOR; LONELINESS; FRIENDSHIP; EDUCATION; SPECTRUM AB Teaching children with autism to interact with their typically developing peers can be a challenge. Previous research has documented that there are many effective ways to teach social interaction; however, interventions in this regard are usually implemented by professionals.The purpose of this study was to assess the effectiveness of parent-implemented contextually supported play dates. Two parents were taught to design cooperative play arrangements to facilitate social interactions between their children with autism and typically developing peers in their homes. Two independent reversal designs were used to demonstrate functional relationships between parent-implemented, contextually supported play dates and an increase in synchronous reciprocal interactions for both participants. Social validity, both immediately after the intervention and 1 year later, was also high for both parents; however, there was no consistent impact on participant, confederate, or parent affect during the study. 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PD JAN PY 2011 VL 13 IS 1 BP 49 EP 62 DI 10.1177/1098300709359027 PG 14 WC Psychology, Clinical; Education, Special SC Psychology; Education & Educational Research GA 697WS UT WOS:000285551100004 ER PT J AU Kaluzna-Czaplinska, J Michalska, M Rynkowski, J AF Kaluzna-Czaplinska, Joanna Michalska, Monika Rynkowski, Jacek TI Homocysteine level in urine of autistic and healthy children SO ACTA BIOCHIMICA POLONICA LA English DT Article DE homocysteine; urine; GC/MS; autism ID PERFORMANCE LIQUID-CHROMATOGRAPHY; HUMAN PLASMA; MASS-SPECTROMETRY; HIGH-THROUGHPUT; CYSTEINE; CYSTEINYLGLYCINE; DERIVATIVES; ASSAY AB Homocysteine is an amino acid which plays several important roles in human physiology and is an important biomarker for possible deficiencies of various vitamins (vitamin B(6) and B(12), folic acid). In this work GC-MS method was used to determine the levels of homocysteine in the urine of autistic and healthy children. The levels of homocysteine in urine samples from 34 autistic and 21 healthy children were 2.36 +/- 1.24 and 0.76 +/- 0.31 (mmol. mol(-1) creatinine), respectively. The higher level of homocysteine in autistic children may indicate deficiencies of folic acid and vitamins B(6) and B(12), in nutrition of these children. The results of this work were taken into consideration in the nutrition of autistic children treated in the Navicula Centre of Diagnosis and Therapy of Autism in Lodz (Poland). C1 [Kaluzna-Czaplinska, Joanna; Michalska, Monika; Rynkowski, Jacek] Tech Univ Lodz, Inst Gen & Ecol Chem, Dept Chem, PL-90924 Lodz, Poland. RP Kaluzna-Czaplinska, J (reprint author), Tech Univ Lodz, Inst Gen & Ecol Chem, Dept Chem, PL-90924 Lodz, Poland. EM jkaluzna@p.lodz.pl FU Ministry of Science and Higher Eduction [NN 204 316234] FX Supported by grant NN 204 316234 from the Ministry of Science and Higher Eduction. 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TI Hyperhomocysteinemia among Omani autistic children: a case-control study SO ACTA BIOCHIMICA POLONICA LA English DT Article DE serum homocysteine; folate; vitamin B(12); autistic children; Oman ID METABOLIC BIOMARKERS; PLASMA HOMOCYSTEINE; SPECTRUM DISORDER; OXIDATIVE STRESS; DIETARY-INTAKE; FOLINIC ACID; RISK-FACTOR; FOLATE; DISEASE; LEVEL AB High serum homocysteine (Hcy) level is regarded as an indicator for impairment of folate-dependent methionine cycle and is associated with oxidative stress. In a case control study, we evaluated eighty 3-5 years old Omani children (40 diagnosed with Autism Spectrum Disorder and 40 their age and gender matched controls) for their fasting serum homocysteine levels as a biomarker of Autism Spectrum Disorder (ASD). Serum folate and vitamin B(12) status were also evaluated. The serum homocysteine was measured using an enzyme immunoassay (EIA) technique whereas folate and vitamin B(12) were measured using an automated random access immune-assay system. The results indicated that mean serum Hcy levels were significantly (P<0.05) higher in autistic children (20.1 +/- 3.3 mu mol/L) as compared to controls (9.64 +/- 2.1 mu mol/L). Significantly (P<0.05) lower serum folate (1.8 +/- 0.4 mu g/L) and vitamin B(12) (191.1 +/- 0.9 pg/mL) levels were observed in autistic children as compared to controls (6.1 +/- 0.6 mu g/L and 288.9 +/- 1.3 pg/mL, respectively). The levels of homocysteine in autistic children were also much higher as compared to normal reference values (5-15 mu mol/L). The results suggest that high fasting serum homocysteine and low folate and vitamin B(12) levels could be used as clinical biomarkers for an early diagnosis and management of ASD. C1 [Ali, Amanat; Waly, Mostafa I.] Sultan Qaboos Univ, Coll Agr & Marine Sci, Dept Food Sci & Nutr, Muscat, Oman. [Al-Farsi, Yahya M.] Sultan Qaboos Univ, Family Med & Publ Hlth Dept, Coll Med & Hlth Sci, Muscat, Oman. [Al-Sharbati, Marwan M.] Sultan Qaboos Univ, Behav Med Dept, Coll Med & Hlth Sci, Muscat, Oman. [Deth, Richard C.] Northeastern Univ, Bouve Coll Hlth Sci, Pharmacol Dept, Boston, MA 02115 USA. RP Ali, A (reprint author), Sultan Qaboos Univ, Coll Agr & Marine Sci, Dept Food Sci & Nutr, Muscat, Oman. EM amanat@squ.edu.om FU Sultan Qaboos University [IG/AGR/FOOD/10/01] FX The financial assistance provided by Sultan Qaboos University under an internal grant (IG/AGR/FOOD/10/01) is greatly acknowledged. We would also like to thank the SQU Hospital staff and the parents of autistic as well as the normal children for their cooperation during this study. 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PY 2011 VL 71 IS 1 BP 178 EP 179 PG 2 WC Neurosciences SC Neurosciences & Neurology GA 755ET UT WOS:000289910500014 PM 21499334 ER PT J AU Omura, Y O'Young, B Jones, M Pallos, A Duvvi, H Shimotsuura, Y AF Omura, Yoshiaki O'Young, Brian Jones, Marilyn Pallos, Andrew Duvvi, Harsha Shimotsuura, Yasuhiro TI Caprylic Acid in The Effective Treatment of Intractable Medical Problems of Frequent Urination, Incontinence, Chronic Upper Respiratory Infection, Root Canalled Tooth Infection, ALS, etc., Caused By Asbestos & Mixed Infections of Candida albicans, Helicobacter pylori & Cytomegalovirus With or Without Other Microorganisms & Mercury SO ACUPUNCTURE & ELECTRO-THERAPEUTICS RESEARCH LA English DT Article DE Intractable frequent urination; Incontinence; Amyotrophic Lateral Sclerosis (ALS); Infection of root canalled tooth; Candida albicans; Helicobacter Pylori; Chlamydia trachomatis; Cytomegalovirus; Asbestos; Caprylic acid; Trigone of urinary bladder; External urethral sphincter; Diflucan; Persistent coughing ID O-RING TEST; AMYOTROPHIC-LATERAL-SCLEROSIS; ORGAN REPRESENTATION AREAS; TEST RESONANCE PHENOMENON; URINARY-INCONTINENCE; MALIGNANT-TUMORS; BLADDER TRIGONE; INTERNAL ORGANS; CIRCULATORY DISTURBANCES; CLINICAL-APPLICATIONS AB There are many causes of frequent urination. Whenever water or fluids are consumed, the patient has to urinate within 10 or 20 min. Often urinary bladder examinations & blood tests show no significant abnormalities, & treatment by anti-bacterial or anti-viral agents does not improve the symptoms significantly. In intractable frequent urination with difficulty holding urine, as well as other intractable medical problems such as frequent coughing, white pus in gingiva, infection of the apex of a root canalled tooth, slow-healing wounds, & ALS, the authors often found coexisting mixed infections of Candida albicans (C.A.), Helicobacter pylori (H.P.), & Cytomegalovirus (CMV) with or without additional bacterial (Chlamydia trachomatis, etc.) or viral infections & increased Asbestos, with or without Hg deposits. We often found various degrees of mixed infections with C.A., H.P., & CMV in the external sphincters of the urethra & in the Trigone of the urinary bladder which consists of 1) a horizontal, band-like area between the 2 ureter openings & 2) the funnel shaped part of the Trigone at the lower half of the urinary bladder. In the coexistence of significant amounts of C.A., H.P. & CMV, the infection cannot be reduced by otherwise effective medicines for H.P. & CMV. However, one optimal dose of Diflucan, or Caprylic acid taken orally or externally applied, rapidly reduced the symptoms significantly. We found the best treatment is to give a combination of an optimal dose of Caprylic acid orally in the form of "CaprilyCare" or "Caprylic Acid," with a capsule of Omega-3 Fish Oil as an anti-viral agent, Amoxicillin, Substance Z & a Cilantro tablet. We found that an optimal dose of Caprylic acid increases normal cell telomere (NCT) to a desirable 750 ng BDORT units while Diflucan increases NCT by only 25 ng BDORT units, & with Omega-3 fish oil, leads to a mutual cancellation of both drugs. Thus, Caprylic acid is superior to & less expensive than Diflucan, & has potential application for anti-cancer, anti-aging, anti-Alzheimer's disease, anti-Autism, anti-infection, & general circulatory improvement. C1 [Omura, Yoshiaki; Duvvi, Harsha] New York Med Coll, Dept Family & Community Med, Valhalla, NY 10595 USA. [Omura, Yoshiaki] French Govt, Natl Inst Hlth & Med Res, Maitre Rech INSERM, Paris, France. [O'Young, Brian] NYU, Sch Med, Rusk Inst Rehabil Med, New York, NY 10003 USA. [Jones, Marilyn] Holist Dent Ctr Houston, Houston, TX USA. [Jones, Marilyn] Univ Houston, Houston, TX 77004 USA. [Pallos, Andrew] Orange Cty Holist Dent Clin, Laguna Niguel, CA USA. [Shimotsuura, Yasuhiro] Japan Bidigital O Ring Test Assoc, Kurume, Fukuoka, Japan. [Shimotsuura, Yasuhiro] Shimotsuura Med Clin, Kurume, Fukuoka, Japan. RP Omura, Y (reprint author), 800 Riverside Dr,8-I, New York, NY 10032 USA. 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Their architecture is based on six N-terminal Ig domains, four fibronectin type III domains, and a C-terminal glycophosphatidylinositol (GPI)-anchor to the extracellular part of the cell membrane. Genetics of neuropsychiatric disorders, particularly autism spectrum disorders, have pinpointed contactin-4, -5, and -6 (CNTN4, -5, and -6) as potential disease genes in neurodevelopmental disorders and suggested that they participate in pathways important for appropriate brain development. These contactins have distinct but overlapping patterns of brain expression, and null-mutation causes subtle morphological and functional defects in the brain. The molecular basis of their neurodevelopmental functions is likely conferred by heterophilic protein interactions. Cntn4, -5, and -6 interact with protein tyrosine phosphatase receptor gamma (Ptptg) using a shared binding site that spans their second and third Ig repeats. 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PY 2011 VL 84 BP 143 EP 180 DI 10.1016/B978-0-12-386483-3.00001-X PG 38 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA BWR82 UT WOS:000294690100005 PM 21846565 ER PT J AU Castelli, I Pini, A Alberoni, M Liverta-Sempio, O Baglio, F Massaro, D Marchetti, A Nemni, R AF Castelli, Ilaria Pini, Alessandra Alberoni, Margherita Liverta-Sempio, Olga Baglio, Francesca Massaro, Davide Marchetti, Antonella Nemni, Raffello TI Mapping levels of theory of mind in Alzheimer's disease: A preliminary study SO AGING & MENTAL HEALTH LA English DT Article DE Theory of Mind; Alzheimer's disease; ageing; neuropsychology ID VARIANT FRONTOTEMPORAL DEMENTIA; SOCIAL COGNITION; OLD-AGE; EXECUTIVE FUNCTION; 2ND-ORDER BELIEFS; ASPERGER-SYNDROME; MENTAL STATE; CHILDREN; TASKS; AUTISM AB Background: Research on Theory of Mind (ToM), the ability to understand behaviour based on mental state representation, has shifted towards a life span perspective in typical and atypical conditions (dementia). Objectives: The aim of this study is to investigate the presence and the features of ToM decay in early Alzheimer's disease (AD) patients compared to healthy controls adopting a neurodevelopmental stance. Method: Sixteen AD patients and 16 healthy controls were submitted to an increasing complexity ToM battery, tapping ToM precursors, standard first- and second-order false beliefs and advanced ToM tasks (Eyes Test and strange stories). Results: The results underline a similar pattern of increasing difficulty of the tasks that explore ToM abilities in both the groups. They also confirm the presence of a strong gap in performance between the CTR and the AD groups, especially in the more complex ToM tasks, whereas there is no significant difference between the two groups in the first level of reasoning about beliefs (first-order false belief). The impairment in specific cognitive functions (i.e. memory and executive functions) seems to correlate with the decline in the most complex mentalistic abilities. Conclusion: This study identifies a specific pattern of deterioration in ToM abilities in AD patients, following backwards developmental steps typical of the acquisition of mentalizing abilities, where the most complex ToM levels are impaired, whereas the intermediate and the simplest ones are preserved. C1 [Castelli, Ilaria; Liverta-Sempio, Olga; Massaro, Davide; Marchetti, Antonella] Univ Cattolica Sacro Cuore, Dept Psychol, Res Unit Theory Mind, Milan, Italy. [Pini, Alessandra; Alberoni, Margherita; Baglio, Francesca; Nemni, Raffello] Fdn Don C Gnocchi, IRCCS, Santa Maria, RS, Italy. RP Marchetti, A (reprint author), Univ Cattolica Sacro Cuore, Dept Psychol, Res Unit Theory Mind, Milan, Italy. 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Health PY 2011 VL 15 IS 2 BP 157 EP 168 DI 10.1080/13607863.2010.513038 PG 12 WC Geriatrics & Gerontology; Gerontology; Psychiatry SC Geriatrics & Gerontology; Psychiatry GA 723FV UT WOS:000287492900003 PM 21140304 ER PT J AU Esbensen, AJ Seltzer, MM AF Esbensen, Anna J. Seltzer, Marsha Mailick TI Accounting for the "Down Syndrome Advantage" SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article ID INTELLECTUAL DISABILITY; SYNDROME SPECIFICITY; PRESCHOOL-CHILDREN; ADAPTIVE-BEHAVIOR; SOCIAL SUPPORT; YOUNG-CHILDREN; FRAGILE-X; FAMILY; AUTISM; ADULTS AB The authors examined factors that could explain the higher levels of psychosocial well being observed in past research in mothers of individuals with Down syndrome compared with mothers of individuals with other types of intellectual disabilities. The authors studied 155 mothers of adults with Down syndrome, contrasting factors that might validly account for the "Down syndrome advantage" (behavioral phenotype) with those that have been portrayed in past research as artifactual (maternal age, social supports). The behavioral phenotype predicted less pessimism, more life satisfaction, and a better quality of the mother child relationship. However, younger maternal age and fewer social supports, as well as the behavioral phenotype, predicted higher levels of caregiving burden. Implications for future research on families of individuals with Down syndrome are discussed. C1 [Esbensen, Anna J.] Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, Cincinnati, OH 45229 USA. [Seltzer, Marsha Mailick] Univ Wisconsin, Waisman Ctr, Madison, WI 53706 USA. RP Esbensen, AJ (reprint author), Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, 3430 Burnet Ave,MLC 4002, Cincinnati, OH 45229 USA. 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J. Intellect. Dev. Disabil. PD JAN PY 2011 VL 116 IS 1 BP 3 EP 15 DI 10.1352/1944-7558-116.1.3 PG 13 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 720QM UT WOS:000287295200002 PM 21291307 ER PT J AU Hartley, SL Seltzer, MM Raspa, M Olmstead, M Bishop, E Bailey, DB AF Hartley, Sigan L. Seltzer, Marsha Mailick Raspa, Melissa Olmstead, Murrey Bishop, Ellen Bailey, Donald B., Jr. TI Exploring the Adult Life of Men and Women With Fragile X Syndrome: Results From a National Survey SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article ID BEHAVIORAL-PHENOTYPE; AUTISTIC BEHAVIOR; YOUNG-CHILDREN; PARENT SURVEY; FMR1 GENE; RETARDATION; SETTINGS; SYMPTOMS; BOYS; DISABILITIES AB Using data from a national family survey, the authors describe the adult lives (i.e., residence, employment, level of assistance needed with everyday life, friendships, and leisure activities) of 328 adults with the full mutation of the FMR1 gene and identify characteristics related to independence in these domains. Level of functional skills was the strongest predictor of independence in adult life for men, whereas ability to interact appropriately was the strongest predictor for women. Co-occurring mental health conditions influenced independence in adult life for men and women, in particular, autism spectrum disorders for men and affect problems for women. Services for adults with fragile X syndrome should not only target functional skills but interpersonal skills and co-occurring mental health conditions. C1 [Hartley, Sigan L.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA. [Raspa, Melissa; Olmstead, Murrey; Bishop, Ellen; Bailey, Donald B., Jr.] RTI Int, Res Triangle Pk, NC USA. RP Hartley, SL (reprint author), Univ Wisconsin, Waisman Ctr, Room 533,1500 Highland Ave, Madison, WI 53705 USA. 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J. Intellect. Dev. Disabil. PD JAN PY 2011 VL 116 IS 1 BP 16 EP 35 DI 10.1352/1944-7558-116.1.16 PG 20 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 720QM UT WOS:000287295200003 PM 21291308 ER PT J AU Hartley, SL Barker, ET Seltzer, MM Greenberg, JS Floyd, FJ AF Hartley, Sigan L. Barker, Erin T. Seltzer, Marsha Mailick Greenberg, Jan S. Floyd, Frank J. TI Marital Satisfaction and Parenting Experiences of Mothers and Fathers of Adolescents and Adults With Autism SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article ID CHILD-BEHAVIOR PROBLEMS; MENTAL-RETARDATION; YOUNG-CHILDREN; DIAGNOSTIC INTERVIEW; SPECTRUM DISORDERS; PRESCHOOL-CHILDREN; PERCEPTIONS; STRESS; FAMILIES; DISABILITIES AB The association of marital satisfaction with parenting burden and quality of the parent child relationship was examined in 91 married mothers and fathers of co-residing adolescents and adults with autism spectrum disorders. Within-couple differences between mothers and fathers in how child characteristics related to these parenting experiences were also evaluated. Multilevel modeling was used to control for the dependency in couple data. Marital satisfaction was an important predictor of parenting experiences, particularly for fathers. Mothers reported feeling closer to their son or daughter than did fathers. 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Koenig, Kristie Kinnealey, Moya Sheppard, Megan Henderson, Lorrie TI Effectiveness of Sensory Integration Interventions in Children With Autism Spectrum Disorders: A Pilot Study SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE autistic disorder; child development disorders, pervasive; outcome assessment (health care); psychomotor performance; research design; sensation disorders ID OCCUPATIONAL-THERAPY; YOUNG-CHILDREN; MOTOR; DISABILITIES; EFFICACY; OUTCOMES AB The purpose of this pilot study was to establish a model for randomized controlled trial research, identify appropriate outcome measures, and address the effectiveness of sensory integration (SI) interventions in children with autism spectrum disorders.(ASD). Children ages 6-12 with ASD were randomly assigned to a fine motor or SI treatment group. Pretests and posttests measured social responsiveness, sensory processing, functional motor skills, and social emotional factors. Results identified significant positive changes in Goal Attainment Scaling scores for both groups; more significant changes occurred in the SI group, and a significant decrease in autistic mannerisms occurred in the SI group. No other results were significant. The study discusses considerations for designing future outcome studies for children with ASD. C1 [Pfeiffer, Beth A.] Temple Univ, Dept Rehabil Sci, Dept Occupat Therapy, Philadelphia, PA 19140 USA. [Koenig, Kristie] NYU, New York, NY USA. [Henderson, Lorrie] ChildHelp, Scottsdale, AZ USA. RP Pfeiffer, BA (reprint author), Temple Univ, Dept Rehabil Sci, Dept Occupat Therapy, 3307 N Broad St, Philadelphia, PA 19140 USA. EM bpfeiff@temple.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators; Centers for Disease Control and Prevention, 2010, MMWR SURVEILL SUMM, V59, P956 Ayres A. 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J. Occup. Ther. PD JAN-FEB PY 2011 VL 65 IS 1 SI SI BP 76 EP 85 DI 10.5014/ajot.2011.09205 PG 10 WC Rehabilitation SC Rehabilitation GA 708KV UT WOS:000286361600010 PM 21309374 ER PT J AU Ceylan, ME Copur, M Maner, F AF Ceylan, Mehmet Emin Copur, Mazlum Maner, Fulya TI Autism, smelling behavior and obsessive compulsive disorder SO ANADOLU PSIKIYATRI DERGISI-ANATOLIAN JOURNAL OF PSYCHIATRY LA English DT Article; Proceedings Paper CT 9th World Congress of Biological Psychiatry CY JUN 28-JUL 02, 2009 CL Paris, FRANCE DE autism; obsesif kompulsif disorder; smelling AB One of the symptoms associated with autism is sensations. Seven male patients with age range 15-38 and diagnosed as autism according to DSM-IV have been presented in this case series. All of the cases presented with smelling of the all objects. It is considered that in addition to the autistic symptoms, smelling behavior show that they have primitive origin. We thought that the triad of obsessive compulsive disorder, autism and smelling the objects might be a subgroup of autistic spectrum disorders. (Anatolian Journal of Psychiatry 2011; 12:301-303) C1 [Ceylan, Mehmet Emin; Copur, Mazlum; Maner, Fulya] Bakirkoy Res & Training Hosp Psychiat Neurol & Ne, Istanbul, Turkey. RP Copur, M (reprint author), Zuhtupasa Mh Fahrettin Kerim Gokay Cd 46,Beyaz Ko, Istanbul, Turkey. EM sidar1996@yahoo.com.tr CR Bejerot S, 2007, AUTISM, V11, P101, DOI 10.1177/1362361307075699 Bennetto L, 2007, BIOL PSYCHIAT, V62, P1015, DOI 10.1016/j.biopsych.2007.04.019 Clark J. 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TI Subcellular features revealed on unfixed rat brain sections by phase imaging SO ANALYST LA English DT Article ID ATOMIC-FORCE MICROSCOPY; AUTISM SPECTRUM DISORDERS; ENERGY-DISSIPATION; ELECTRON MICROSCOPY; PROPIONIC-ACID; MODE; TISSUE; CHOLESTEROL; TIME AB For sectioned biologic tissues, atomic force microscopy (AFM) topographic images alone hardly provide adequate information leading to revealing biological structures. We demonstrate that phase imaging in amplitude-modulation AFM is a powerful tool in mapping structures present on the surface of unfixed rat brains sections. The contrast in phase images is originated from the difference in mechanical properties between biological structures. Visualization of the native state of biological structures by way of their mechanical properties provides a complementary technique to more traditional imaging techniques such as optical and electron microscopy. C1 [Nie, H. -Y.; Lau, W. M.] Univ Western Ontario, London, ON N6G 0J3, Canada. [Nie, H. -Y.] Univ Western Ontario, Dept Phys & Astron, London, ON N6A 3K7, Canada. [Taylor, A. R.; MacFabe, D. F.] Univ Western Ontario, Shulich Sch Med & Dent, Div Dev Disabil, Dept Psychiat,SSC, London, ON N6A 5C2, Canada. [Taylor, A. R.; MacFabe, D. F.] Univ Western Ontario, Shulich Sch Med & Dent, Kilee Patchell Evans Autism Res Grp, Dept Psychol,SSC, London, ON N6A 5C2, Canada. RP Nie, HY (reprint author), Univ Western Ontario, 999 Collip Circle, London, ON N6G 0J3, Canada. EM hnie@uwo.ca RI Nie, Heng-Yong/A-2391-2008; Lau, Leo/B-9187-2014 FU Goodlife Children's Foundation; Autism Research Institute Foundation FX The authors thank Francis Boon for his excellent technical assistance. This research was supported in part by contributions from Goodlife Children's Foundation and Autism Research Institute Foundation to DFM. We extend our heartfelt gratitude to David and Kilee Patchell-Evans. The authors declare no conflict of interest. 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Although scientific evidence on the effects is far from being consistent, companion animals are used with a large number of human subjects, ranging from children to elderly people, who benefit most from emotional support. Based on a comprehensive review of the literature, this paper examines the potential for domesticated animals, such as dogs, for providing emotional and physical opportunities to enrich the lives of many frail subjects. In particular, we focus on innovative interventions, including the potential use of dogs to improve the life of emotionally-impaired children, such as those affected by autism spectrum disorders. Overall an ever increasing research effort is needed to search for the mechanism that lie behind the human-animal bond as well as to provide standardized methodologies for a cautious and effective use of animal-assisted interventions. C1 [Cirulli, Francesca; Borgi, Marta; Berry, Alessandra; Francia, Nadia; Alleva, Enrico] Ist Super Sanita, Dipartimento Biol Cellulare & Neurosci, I-00161 Rome, Italy. RP Cirulli, F (reprint author), Ist Super Sanita, Dipartimento Biol Cellulare & Neurosci, Viale Regina Elena 299, I-00161 Rome, Italy. EM francesca.cirulli@iss.it RI Cirulli, Francesca/B-1581-2013; Alleva, Enrico/B-1630-2013 FU MIPAAF; Istituto Superiore di Sanita FX Funding for part of the work presented in this review was provided by MIPAAF (Research project "Valutazione delle pratiche innovative di agricoltura sociale come opportunita di sviluppo rurale sostenibile e analisi delle implicazioni per le politiche") and Istituto Superiore di Sanita (Research project "Effects of dog-assisted therapies on physical and psychological well being in the institutionalized elderly"). We acknowledge the precious help of Danilo Bellisario in performing database searches and for manuscript formatting. 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Daniele Ruczinski, Ingo TI Importance Measures for Epistatic Interactions in Case-Parent Trios SO ANNALS OF HUMAN GENETICS LA English DT Article DE Family based association study; gene-gene interaction; epistatic interaction; trio logic regression; logicFS; autism ID MULTIFACTOR-DIMENSIONALITY REDUCTION; GENE-GENE INTERACTIONS; SINGLE NUCLEOTIDE POLYMORPHISMS; NEURAL-NETWORK ARCHITECTURE; FAMILY-BASED ASSOCIATION; HIGH-ORDER INTERACTIONS; SNP-SNP INTERACTIONS; LOGIC REGRESSION; CANCER RISK; ENVIRONMENT INTERACTIONS AB P>Ensemble methods (such as Bagging and Random Forests) take advantage of unstable base learners (such as decision trees) to improve predictions, and offer measures of variable importance useful for variable selection. LogicFS has been proposed as such an ensemble learner for case-control studies when interactions of single nucleotide polymorphisms (SNPs) are of particular interest. LogicFS uses bootstrap samples of the data and employs the Boolean trees derived in logic regression as base learners to create ensembles of models that allow for the quantification of the contributions of epistatic interactions to the disease risk. In this article, we propose an extension of logicFS suitable for case-parent trio data, and derive an additional importance measure that is much less influenced by linkage disequilibrium between SNPs than the measure originally used in logicFS. We illustrate the performance of the novel procedure in simulation studies and in a case study of 461 case-parent trios with autistic children. C1 [Schwender, Holger; Ruczinski, Ingo] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21218 USA. [Bowers, Katherine; Fallin, M. Daniele] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21218 USA. RP Ruczinski, I (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, 615 N Wolfe St, Baltimore, MD 21218 USA. EM ingo@jhu.edu FU Deutsche Forschungsgemeinschaft [SCHW15-08 1/1]; CDC grant "Centers for Autism and Developmental Disabilities Research and Epidemiology" [DD06-003 U10 DD000183]; National Heart, Lung, and Blood Institute [R01 HL090577] FX Support was provided by grant SCHW15-08 1/1 of the Deutsche Forschungsgemeinschaft (HS), CDC grant "Centers for Autism and Developmental Disabilities Research and Epidemiology" DD06-003 U10 DD000183 (MDF), and R01 HL090577 from the National Heart, Lung, and Blood Institute (IR). We would also like to acknowledge the families who participated in AGRE. The AGRE collection Principal Investigator is Daniel H. Geschwind (UCLA). The Co-Principal Investigators include Stanley F. Nelson and Rita M. Cantor (UCLA), Christa Lese Martin (Univ. Chicago), T. Conrad Gilliam (Columbia). Co-Investigators include Maricela Alarcon (UCLA), Kenneth Lange (UCLA), Sarah J. Spence (UCLA), David H. Ledbetter (Emory) and Hank Juo (Columbia). Scientific oversight of the AGRE program is provided by a steering committee (Chair: Daniel H. Geschwind; Members: W. Ted Brown, Maja Bucan, Joseph D. Buxbaum, T. Conrad Gilliam, David Greenberg, David H. Ledbetter, Bruce Miller, Stanley F. Nelson, Jonathan Pevsner, Carol Sprouse, Gerard D. Schellenberg and Rudolph Tanzi). 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TI Nutritional and anthropometric evaluation in children with autism SO ANNALS OF NUTRITION AND METABOLISM LA English DT Meeting Abstract DE anthropometry; autism; nutrition; vitamin D C1 [Codoner-Franch, P.; Aracil-Pedro, T.; Ballester-Asensio, E.; Simo-Jorda, R.; Breton-Martinez, R.; Canovas-Martinez, A.] Univ Hosp Dr Peset, Dept Pediat, Valencia, Spain. RI Canovas, Manuel/K-3860-2014 OI Canovas, Manuel/0000-0003-3254-1736 NR 0 TC 0 Z9 0 PU KARGER PI BASEL PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND SN 0250-6807 J9 ANN NUTR METAB JI Ann. Nutr. Metab. PY 2011 VL 58 SU 3 BP 140 EP 140 PG 1 WC Endocrinology & Metabolism; Nutrition & Dietetics SC Endocrinology & Metabolism; Nutrition & Dietetics GA 861IF UT WOS:000298011900309 ER PT J AU Perez, AH Lopez, CP Lerchundi, AF Funes, YC Espinosa, YG Mendoza, JG Espinola, FT Cordero, MA AF Hervas Perez, A. Padilla Lopez, C. Fernandez Lerchundi, A. Caba Funes, Y. Garcia Espinosa, Y. Gonzalez Mendoza, J. Torres Espinola, F. Aguilar Cordero, M. TI Nutritional evaluation of children with autism spectrum. SO ANNALS OF NUTRITION AND METABOLISM LA English DT Meeting Abstract DE Autistic children; nutrition C1 [Hervas Perez, A.; Padilla Lopez, C.; Caba Funes, Y.; Garcia Espinosa, Y.; Gonzalez Mendoza, J.] Grp Invest CTS 367, Junta De Andalucia, Spain. [Fernandez Lerchundi, A.] Asociac Autista Granada, Granada, Spain. [Torres Espinola, F.] Univ Granada, Dept Pediat, E-18071 Granada, Spain. [Aguilar Cordero, M.] Univ Granada, Hosp Clin San Cecilio Granada, Dept Enfermeria, E-18071 Granada, Spain. NR 0 TC 0 Z9 0 PU KARGER PI BASEL PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND SN 0250-6807 J9 ANN NUTR METAB JI Ann. Nutr. Metab. PY 2011 VL 58 SU 3 BP 262 EP 262 PG 1 WC Endocrinology & Metabolism; Nutrition & Dietetics SC Endocrinology & Metabolism; Nutrition & Dietetics GA 861IF UT WOS:000298011900582 ER PT J AU Sarrett, JC Kushner, HI AF Sarrett, Jennifer C. Kushner, Howard I. TI Crazy Like Us: The Globalization of the American Psyche SO ANNALS OF SCIENCE LA English DT Book Review AB Watters questions the universality of mental illness and warns of the harms that accompany the exportation of Western typologies to non-Western cultures. He is particularly concerned that these effects will be exacerbated by the upcoming revisions of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V). Building on his examination of non-Western practices, Watters exposes the historical instability of mental health classifications in North America to question the validity of current DSM categories. Although Watters' warnings about the dangers of the globalisation of the DSM are persuasive, they may be overreaching as our examination of the successful incorporation of Western created autism services, information, and interventions in the developing world suggests. C1 [Sarrett, Jennifer C.] Emory Univ, Grad Inst Liberal Arts, Atlanta, GA 30322 USA. 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BE Chakravarti, A Green, E TI Copy Number and SNP Arrays in Clinical Diagnostics SO ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 12 SE Annual Review of Genomics and Human Genetics LA English DT Review; Book Chapter DE intellectual disability; neuropsychiatric disorders; microarray; mosaicism; consanguinity; prenatal diagnosis ID COMPARATIVE GENOMIC HYBRIDIZATION; AUTISM SPECTRUM DISORDER; MENTAL-RETARDATION; PRENATAL-DIAGNOSIS; DEVELOPMENTAL DELAY; CHROMOSOMAL REARRANGEMENTS; CONGENITAL-ANOMALIES; UNIPARENTAL DISOMY; HUMAN CYTOGENETICS; DELETION SYNDROME AB The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic abnormalities has revolutionized the clinical diagnostic approach to individuals with intellectual disability, neurobehavioral phenotypes, and congenital malformations. The recognition of the underlying copy number variant (CNV) in respective individuals may allow not only for better counseling and anticipatory guidance but also for more specific therapeutic interventions in some cases. The use of CMA technology in prenatal diagnosis is emerging and promises higher sensitivity for several highly penetrant, clinically severe microdeletion and microduplication syndromes. Genetic counseling complements the diagnostic testing with CMA, given the presence of CNVs of uncertain clinical significance, incomplete penetrance, and variable expressivity in some cases. While oligonucleotide arrays with high-density exonic coverage remain the gold standard for the detection of CNVs, single-nucleotide polymorphism (SNP) arrays allow for detection of consanguinity and most cases of uniparental disomy and provide a higher sensitivity to detect low-level mosaic aneuploidies. 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Rev. Genomics Hum. Genet. PY 2011 VL 12 BP 25 EP 51 DI 10.1146/annurev-genom-092010-110715 PG 27 WC Genetics & Heredity SC Genetics & Heredity GA BXD58 UT WOS:000295819900002 PM 21801020 ER PT S AU Gejman, PV Sanders, AR Kendler, KS AF Gejman, Pablo V. Sanders, Alan R. Kendler, Kenneth S. BE Chakravarti, A Green, E TI Genetics of Schizophrenia: New Findings and Challenges SO ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 12 SE Annual Review of Genomics and Human Genetics LA English DT Review; Book Chapter DE SNP; CNV; complex disorders; polygenic; GWAS ID GENOME-WIDE ASSOCIATION; FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDERS; FINNISH ADOPTIVE FAMILY; CARDIO-FACIAL SYNDROME; PITT-HOPKINS-SYNDROME; IDIOPATHIC GENERALIZED EPILEPSY; RARE STRUCTURAL VARIANTS; COPY NUMBER VARIANTS; PSYCHIATRIC-DISORDERS AB The work conducted using genome-wide approaches during the past several years has invigorated the field, and represents the dawn of molecular genetics of schizophrenia. The aggregate data increasingly support a combination of rare and common genetic variation in schizophrenia, a major role for polygenic inheritance, and a genetic overlap of schizophrenia and other psychiatric disorders, such as bipolar disorder and autism. The current and upcoming resequencing programs (full exomes to full genomes), in combination with the use of more informative genotyping arrays, will allow a more thorough dissection of the molecular genetics of the disorder. A main challenge for the field is the translation of established genetic associations into a better pathophysiological understanding of schizophrenia. C1 [Gejman, Pablo V.; Sanders, Alan R.] NorthShore Univ HealthSyst, Res Inst, Ctr Psychiat Genet, Evanston, IL 60201 USA. [Gejman, Pablo V.; Sanders, Alan R.] Univ Chicago, Evanston, IL 60201 USA. [Kendler, Kenneth S.] Virginia Commonwealth Univ, Sch Med, Virginia Inst Psychiat & Behav Genet, Richmond, VA 23298 USA. 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Rev. Genomics Hum. Genet. PY 2011 VL 12 BP 121 EP 144 DI 10.1146/annurev-genom-082410-101459 PG 24 WC Genetics & Heredity SC Genetics & Heredity GA BXD58 UT WOS:000295819900006 PM 21639796 ER PT S AU Krueger, DD Bear, MF AF Krueger, Dilja D. Bear, Mark F. BE Caskey, CT TI Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome SO ANNUAL REVIEW OF MEDICINE, VOL 62, 2011 SE Annual Review of Medicine LA English DT Review; Book Chapter DE FMRP; metabotropic glutamate receptor; autism; mental retardation; protein synthesis; long-term depression ID MENTAL-RETARDATION PROTEIN; METABOTROPIC GLUTAMATE-RECEPTOR; LONG-TERM DEPRESSION; MOUSE MODEL; MESSENGER-RNA; SYNAPTIC PLASTICITY; DENDRITIC SPINES; KNOCKOUT MICE; NEUROFIBROMATOSIS TYPE-1; EPILEPTIFORM DISCHARGES AB Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a leading known cause of autism. It is caused by loss of expression of the fragile X mental retardation protein (FMRP), an RNA-binding protein that negatively regulates protein synthesis. In neurons, multiple lines of evidence suggest that protein synthesis at synapses is triggered by activation of group 1 metabotropic glutamate receptors (Gp1 mGluRs) and that many functional consequences of activating these receptors are altered in the absence of FM-RP. These observations have led to the theory that exaggerated protein synthesis downstream of Gp1 mGluRs is a core pathogenic mechanism in FXS. This excess can be corrected by reducing signaling by Gp1 mGluRs, and numerous studies have shown that inhibition of inGluR5, in particular, can ameliorate multiple mutant phenotypes in animal models of FXS. Clinical trials based on this therapeutic strategy are currently under way. FXS is therefore poised to be the first neurobehavioral disorder in which corrective treatments have been developed from the bottom up: from gene identification to pathophysiology in animals to novel therapeutics in humans. The insights gained from FXS and other autism-related single-gene disorders may also assist in identifying molecular mechanisms and potential treatment approaches for idiopathic autism. C1 [Krueger, Dilja D.; Bear, Mark F.] MIT, Howard Hughes Med Inst, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA. RP Krueger, DD (reprint author), MIT, Howard Hughes Med Inst, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA. 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Rev. Med. PY 2011 VL 62 BP 411 EP 429 DI 10.1146/annurev-med-061109-134644 PG 19 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA BTS32 UT WOS:000287956900029 PM 21090964 ER PT J AU Johnson, S Hollis, C Hennessy, E Kochhar, P Wolke, D Marlow, N AF Johnson, Samantha Hollis, Chris Hennessy, Enid Kochhar, Puja Wolke, Dieter Marlow, Neil TI Screening for autism in preterm children: diagnostic utility of the Social Communication Questionnaire SO ARCHIVES OF DISEASE IN CHILDHOOD LA English DT Article ID LOW-BIRTH-WEIGHT; PSYCHIATRIC-DISORDERS; BEHAVIORAL-PROBLEMS; SPECTRUM DISORDERS; MENTAL-HEALTH; RISK-FACTORS; AGE; POPULATION; PREVALENCE; VALIDITY AB Objective Preterm survivors are at high risk for autism spectrum disorders (ASD). The diagnostic utility of the Social Communication Questionnaire (SCQ) in screening for ASD was assessed in extremely preterm children at 11 years of age. Design All babies born at <26 weeks gestation in UK and Ireland from March through December 1995 were recruited to the EPICure Study. Of 307 survivors, 219 (71%) were assessed at 11 years. Parents of 173 children completed the SCQ to screen for autistic features and the Development and Well Being Assessment (DAWBA) psychiatric interview. A consensus diagnosis of ASD was assigned by two child psychiatrists following review of the DAWBA parental interview and corresponding DAWBA teacher questionnaire. Setting Community-based follow-up. Results Using the established SCQ cut-off (scores >= 15), 28 (16%) extremely preterm children screened positive for ASD. Eleven (6%) were assigned a diagnosis of ASD. Using this cut-off, the SCQ had 82% sensitivity and 88% specifi city for identifying ASD in this population. Using a receiver operating characteristic curve, SCQ scores >= 14 had optimal diagnostic utility (area under curve: 0.94; sensitivity: 91%; specifi city: 86%). Positive predictive value was relatively low (31%) resulting in numerous over-referrals. However, children with false positive screens had significantly worse neuro-developmental, cognitive and behavioural outcomes than those with true negative screens. Conclusion The SCQ has good diagnostic utility for identifying ASD in extremely preterm children and is a useful screening tool in this population. Children with false positive screens represent a high-risk group in whom further diagnostic assessment would be beneficial. C1 [Johnson, Samantha; Marlow, Neil] UCL, Inst Womens Hlth, Res Dept Acad Neonatol, London WC1E 6HX, England. [Hollis, Chris; Kochhar, Puja] Univ Nottingham, Div Psychiat, Sch Community Hlth Sci, Nottingham NG7 2RD, England. [Hennessy, Enid] Univ London, Wolfson Inst Prevent Med, Barts & London Sch Med & Dent, London, England. [Wolke, Dieter] Univ Warwick, Dept Psychol, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England. [Wolke, Dieter] Univ Warwick, Hlth Sci Res Inst, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England. RP Johnson, S (reprint author), UCL, Inst Womens Hlth, Res Dept Acad Neonatol, 86-96 Chenies Mews, London WC1E 6HX, England. EM sam.johnson@nottingham.ac.uk RI Wolke, Dieter/C-5372-2008; Marlow, Neil/D-2918-2009; Skudder, Diane/G-2577-2011 OI Wolke, Dieter/0000-0003-0304-268X; Marlow, Neil/0000-0001-5890-2953; FU Medical Research Council (MRC), UK; Department of Health1s NIHR Biomedical Research Centres at UCLH/UCL FX This study was funded by the Medical Research Council (MRC), UK. Neil Marlow receives a proportion of funding from the Department of Health1s NIHR Biomedical Research Centres funding scheme at UCLH/UCL. 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Dis. Child. PD JAN PY 2011 VL 96 IS 1 BP 73 EP 77 DI 10.1136/adc.2010.194795 PG 5 WC Pediatrics SC Pediatrics GA 695RB UT WOS:000285389200016 PM 21030372 ER PT J AU Mosconi AF Mosconi TI Neurobehavioral Abnormalities in First-Degree Relatives of Individuals With Autism (vol 67, pg 830, 2010) SO ARCHIVES OF GENERAL PSYCHIATRY LA English DT Correction CR MOSCONI, 2010, ARCH GEN PSYCHIAT, V67, P830 NR 1 TC 0 Z9 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 515 N STATE ST, CHICAGO, IL 60610-0946 USA SN 0003-990X J9 ARCH GEN PSYCHIAT JI Arch. Gen. Psychiatry PD JAN PY 2011 VL 68 IS 1 BP 60 EP 60 PG 1 WC Psychiatry SC Psychiatry GA 702WY UT WOS:000285927800012 ER PT J AU Pierce, K Conant, D Hazin, R Stoner, R Desmond, J AF Pierce, Karen Conant, David Hazin, Roxana Stoner, Richard Desmond, Jamie TI Preference for Geometric Patterns Early in Life as a Risk Factor for Autism SO ARCHIVES OF GENERAL PSYCHIATRY LA English DT Article ID SPECTRUM DISORDERS; BEHAVIORAL TREATMENT; EARLY RECOGNITION; YOUNG-CHILDREN; ATTENTION; INDIVIDUALS; AGE; STABILITY; DEFICITS; INFANTS AB Context: Early identification efforts are essential for the early treatment of the symptoms of autism but can only occur if robust risk factors are found. Children with autism often engage in repetitive behaviors and anecdotally prefer to visually examine geometric repetition, such as the moving blade of a fan or the spinning of a car wheel. The extent to which a preference for looking at geometric repetition is an early risk factor for autism has yet to be examined. Objectives: To determine if toddlers with an autism spectrum disorder ( ASD) aged 14 to 42 months prefer to visually examine dynamic geometric images more than social images and to determine if visual fixation patterns can correctly classify a toddler as having an ASD. Design: Toddlers were presented with a 1-minute movie depicting moving geometric patterns on 1 side of a video monitor and children in high action, such as dancing or doing yoga, on the other. Using this preferential looking paradigm, total fixation duration and the number of saccades within each movie type were examined using eye tracking technology. Setting: University of California, San Diego Autism Center of Excellence. Participants: One hundred ten toddlers participated in final analyses ( 37 with an ASD, 22 with developmental delay, and 51 typical developing toddlers). Main Outcome Measure: Total fixation time within the geometric patterns or social images and the number of saccades were compared between diagnostic groups. Results: Overall, toddlers with an ASD as young as 14 months spent significantly more time fixating on dynamic geometric images than other diagnostic groups. If a toddler spent more than 69% of his or her time fixating on geometric patterns, then the positive predictive value for accurately classifying that toddler as having an ASD was 100%. Conclusion: A preference for geometric patterns early in life may be a novel and easily detectable early signature of infants and toddlers at risk for autism. C1 [Pierce, Karen; Stoner, Richard] Univ Calif San Diego, Autism Ctr Excellence, Dept Neurosci, La Jolla, CA 92037 USA. RP Pierce, K (reprint author), Univ Calif San Diego, Autism Ctr Excellence, Dept Neurosci, 8110 La Jolla Shores Dr, La Jolla, CA 92037 USA. EM kpierce@ucsd.edu FU National Institute of Mental Health [R01-MH080134]; National Institute of Mental Health Autism Center of Excellence [P50-MH081755] FX Funding/Support: This work was funded by National Institute of Mental Health grant R01-MH080134 (Dr Pierce) and National Institute of Mental Health Autism Center of Excellence grant P50-MH081755 (Eric Courchesne, PhD). 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In the present study, we examined whether gaze cue effects would be moderated by political temperament, given that those on the political right tend to be more supportive of individualism-and less likely to be influenced by others-than those on the left. We found standard gaze-cuing effects across all subjects but systematic differences in these effects by political temperament. Liberals exhibited a very large gaze-cuing effect, whereas conservatives showed no such effect at various stimulus onset asynchronies. C1 [Dodd, Michael D.] Univ Nebraska, Dept Psychol, Lincoln, NE 68588 USA. [Hibbing, John R.; Smith, Kevin B.] Univ Nebraska, Dept Polit Sci, Lincoln, NE 68588 USA. RP Dodd, MD (reprint author), Univ Nebraska, Dept Psychol, 238 Burnett Hall, Lincoln, NE 68588 USA. EM mdodd2@unl.edu FU Natural Sciences Foundation [BCS-0826828] FX This research was partially supported by Natural Sciences Foundation Grant BCS-0826828, John Hibbing, Principal Investigator. We would like to thank Alex Knezevic and Andrew Neal for their assistance in data collection. We would also like to thank Michael Wagner, Bradley Gibson and three anonymous reviewers for useful comments on earlier drafts of the manuscript. Correspondence may be sent to Mike Dodd, The University of Nebraska -Lincoln, 238 Burnett Hall, Lincoln, NE, USA, 68588 (mdodd2@unl.edu). 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PY 2011 VL 64 IS 11 BP 1470 EP 1473 DI 10.1071/CH11328 PG 4 WC Chemistry, Multidisciplinary SC Chemistry GA 848PQ UT WOS:000297064200010 ER PT J AU Billstedt, E Gillberg, IC Gillberg, C AF Billstedt, Eva Gillberg, I. Carina Gillberg, Christopher TI Aspects of quality of life in adults diagnosed with autism in childhood A population-based study SO AUTISM LA English DT Article DE autism; adult outcome; quality of life; sexuality ID MEN AB The present study is a long-term prospective follow-up study of a population-based cohort of 120 individuals diagnosed with autism in childhood, followed into late adolescence/early adulthood. Specific aims of the study were to attempt to measure and study social aspects/quality of life in those 108 individuals with autism alive and available for study at the time of follow-up (13-22 years after original diagnosis). A newly constructed scale for rating 'autism-friendly environment'/quality of life was used alongside a structured parent/carer interview assessing current occupation, educational history, services provided, accommodation type, and recreational activities. The majority of the group with autism remained dependent on parents/caregivers for support in education, accommodation and occupational situations. In spite of this, the estimation of the study group's general quality of life was encouragingly positive. Nevertheless, there was an obvious need for improvements in the areas of occupation and recreational activities. Future studies need to look in more depth at the concept of an autism-friendly environment and develop more detailed quality of life assessment tools relevant for people in the autism spectrum. C1 [Billstedt, Eva; Gillberg, I. Carina; Gillberg, Christopher] Gothenburg Univ, Inst Neurosci & Physiol Child & Adolescent Psychi, S-41124 Gothenburg, Sweden. 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Mikami, Amori Yee Levine, Karen TI Socio-Dramatic Affective-Relational Intervention for Adolescents with Asperger Syndrome & High Functioning Autism: Pilot Study SO AUTISM LA English DT Article DE Asperger syndrome; high functioning autism; social skills; hierarchical linear modeling; treatment effectiveness evaluation ID SPECTRUM DISORDERS; CHILDREN AB This study examined the effectiveness of a novel intervention called 'socio-dramatic affective-relational intervention' (SDARI), intended to improve social skills among adolescents with Asperger syndrome and high functioning autism diagnoses. SDARI adapts dramatic training activities to focus on in vivo practice of areas of social skill deficit among this population. SDARI was administered as a six-week summer program in a community human service agency. Nine SDARI participants and eight age- and diagnosis-group matched adolescents not receiving SDARI were compared on child- and parent-report of social functioning at three week intervals beginning six weeks prior to intervention and ending six weeks post-intervention. Hierarchical Linear Modeling (HLM) was used to estimate growth trends between groups to assess treatment outcomes and post-treatment maintenance. Results indicated significant improvement and post-treatment maintenance among SDARI participants on several measures of child social functioning. Implications for practice and research are discussed. C1 [Lerner, Matthew D.] Univ Virginia, Dept Psychol, Charlottesville, VA 22904 USA. [Levine, Karen] Harvard Univ, Sch Med, Cambridge, MA 02138 USA. RP Lerner, MD (reprint author), Univ Virginia, Dept Psychol, 102 Gilmer Hall,POB 400400, Charlottesville, VA 22904 USA. 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SO AUTISM LA English DT Article DE autism spectrum disorder; effect of familiarity; mother-child interaction; social behaviour ID JOINT ATTENTION; MENTAL-RETARDATION; COMMUNICATION; RESPONSES; PRESCHOOLERS; INVOLVEMENT; EXPRESSIONS; ATTACHMENT; INFANTS; CONTEXT AB In this study the social behaviour of young children with autism spectrum disorder (ASD) and their mothers is compared within two different dyads: a dyad consisting of a mother and her own child and a dyad consisting of a mother and an unfamiliar child. Mothers did not change the frequency of their social initiatives and responsiveness with an unfamiliar child, but they became less directive than with their own child. Children with ASD did not show significantly better social behaviour with their own mother than with an unfamiliar mother. 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Daley, Dave Karlof, Kristie L. Robison, Dorothy TI Assessing expressed emotion in mothers of children with autism The Autism-Specific Five Minute Speech Sample SO AUTISM LA English DT Article DE expressed emotion; autism; family; mothers; parent-child relationship; measurement ID BEHAVIOR RATING FORM; 5-MINUTE SPEECH SAMPLE; DEPRESSED MOOD; STRESS PROLIFERATION; SPECTRUM DISORDERS; EARLY-CHILDHOOD; YOUNG-CHILDREN; DISABILITIES; ADOLESCENTS; ADJUSTMENT AB Background: Expressed emotion (EE) is a measure of family emotional climate found to be predictive of symptom levels in a range of psychiatric, medical, and developmental disorders, including autism. Method: Employing data from 104 mothers of children with autism, this study examines the Autism-Specific Five Minute Speech Sample (AFMSS), a modified EE coding system based on the widely used Five Minute Speech Sample (Magana et al., 1986). Findings: With the exception of one EE component, emotional over-involvement, the revised coding system demonstrated adequate internal consistency and good to excellent inter-rater and code-recode reliability. It also demonstrated acceptable validity, based on its significant correlations with factors linked to EE in previous research. Regression analyses also indicated AFMSS-EE to be a significant predictor of child social competence, but not child problem behaviors. Discussion: While further testing is required, the AFMSS appears to be a useful method of assessing EE within the context of parenting children with autism and related disorders. C1 [Benson, Paul R.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA. [Daley, Dave] Bangor Univ, Bangor, Gwynedd, Wales. [Robison, Dorothy] Federat Children Special Needs, Boston, MA USA. RP Benson, PR (reprint author), Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA. 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Data were collected on the age at diagnosis, the time taken to obtain a diagnosis and the difficulties encountered. Questionnaires filled in by the parents (n = 248) and in-depth interviews (n = 43) were analyzed in order to obtain quantitative and qualitative results. The ages of the children ranged from 4 to 45. This approach enabled us to compare the practices of professionals now and in the past. The mean age of diagnosis was 10 +/- 8 years from 1960 to 1990, 5 +/- 3 years from 1990 to 2005 (3 +/- 1 from 2003 to 2005). The results showed that the mean delays between first consultation and diagnosis were reduced. Regarding the way the diagnosis was announced, 63% of the parents of children with autism and 93% of the parents of adults with autism were dissatisfied. We discuss the parents' reactions and the changes in the diagnostic process. 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We examined whether children with ASD have more mealtime problems than their typically developing siblings, and whether age and sex are associated with mealtime problems. Forty-eight families participated in this cross sectional study by completing a questionnaire (Eating Profile) for their child with ASD, 3 to 12 years of age. A second Eating Profile was completed for the sibling nearest in age without ASD. Children with ASD had a mean of 13.3 eating problems, with lack of food variety predominating. Siblings had 5.0 problems. Children with ASD had more eating problems as infants. Older children tended to have fewer problems than younger children. This study points to the importance of screening for mealtime problems. Children with ASD had significantly more mealtime problems than their sibling living in the same social environment. C1 [Nadon, Genevieve; Feldman, Debbie Ehrmann] Univ Montreal, Fac Med, Montreal, PQ H3C 3J7, Canada. 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Shea, Victoria TI Evidence-Based Practices and Autism SO AUTISM LA English DT Article DE Evidence-Based Practice; Scientifically-Based Research ID EMPIRICALLY SUPPORTED TREATMENTS; PERVASIVE DEVELOPMENTAL DISORDER; INTENSIVE BEHAVIORAL TREATMENT; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; YOUNG-CHILDREN; EARLY INTERVENTION; PSYCHOSOCIAL INTERVENTIONS; COMPREHENSIVE TREATMENTS; SPECIAL-EDUCATION AB Interventions for autism are increasing being held to standards such as 'evidence-based practice' in psychology and 'scientifically-based research' in education. When these concepts emerged in the context of adult psychotherapy and regular education, they caused considerable controversy. Application of the concepts to autism treatments and special education has raised additional concerns. An analysis of the benefits and limitations of current approaches to empiricism in autism interventions is presented, and suggestions for future research are made. 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RP Ashcroft, RE (reprint author), Queen Mary Univ London, Sch Law, London, England. CR BARNBAUM DR, 2008, ETHICS AUTISM AMONG, DOI DOI 10.1111/J1469-7610.2004.00338.X NR 1 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1362-3613 J9 AUTISM JI Autism PD JAN PY 2011 VL 15 IS 1 BP 134 EP 136 DI 10.1177/1362361309360447 PG 3 WC Psychology, Developmental SC Psychology GA 715HM UT WOS:000286873900009 ER PT J AU Newbury, DF Paracchini, S Scerri, TS Winchester, L Addis, L Richardson, AJ Walter, J Stein, JF Talcott, JB Monaco, AP AF Newbury, D. F. Paracchini, S. Scerri, T. S. Winchester, L. Addis, L. Richardson, Alex J. Walter, J. Stein, J. F. Talcott, J. B. Monaco, A. P. TI Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects SO BEHAVIOR GENETICS LA English DT Article DE Dyslexia; Specific language impairment (SLI); Genetics; Association ID SHORT-TERM-MEMORY; FAMILY-BASED ASSOCIATION; DEVELOPMENTAL DYSLEXIA; SUSCEPTIBILITY GENE; CANDIDATE GENE; CHROMOSOME 6P; LARGE-SAMPLE; KIAA0319; DYX1C1; AUTISM AB Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. We perform case-control and quantitative association analyses using measures of oral and written language skills in samples of SLI and dyslexic families and cases. We replicate association between KIAA0319 and DCDC2 and dyslexia and provide evidence to support a role for KIAA0319 in oral language ability. In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families. C1 [Newbury, D. F.; Paracchini, S.; Scerri, T. S.; Winchester, L.; Monaco, A. P.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England. [Addis, L.] Kings Coll London, Dept Clin Neurosci, Inst Psychiat, London WC2R 2LS, England. [Richardson, Alex J.] Univ Oxford, Ctr Evidence Based Intervent, Dept Social Policy & Social Work, Oxford OX1 2ER, England. [Walter, J.; Stein, J. F.] Univ Oxford, Dept Physiol, Oxford OX1 3PT, England. [Talcott, J. B.] Aston Univ, Sch Life & Hlth Sci, Birmingham B4 7ET, W Midlands, England. RP Monaco, AP (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, Roosevelt Dr, Oxford OX3 7BN, England. EM anthony@well.ox.ac.uk RI Monaco, Anthony/A-4495-2010 OI Monaco, Anthony/0000-0001-7480-3197 FU Wellcome Trust [076566, 075491]; MRC FX The authors would like to thank all the families and individuals who kindly agreed to participate in these studies. We are extremely grateful to the clinicians, speech and language therapists and nurses who contribute to data collection and to Kim Rochelle, who was instrumental in participant recruitment and data collection. This research was specifically funded by a Wellcome Trust programme grant (no. 076566) and more generally by a Wellcome Trust core award grant (no. 075491). Dianne Newbury is funded by a MRC Career Development Award. Open access of this manuscript is funded by the Wellcome Trust. 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Genet. PD JAN PY 2011 VL 41 IS 1 BP 90 EP 104 DI 10.1007/s10519-010-9424-3 PG 15 WC Behavioral Sciences; Genetics & Heredity; Psychology, Multidisciplinary SC Behavioral Sciences; Genetics & Heredity; Psychology GA 712JA UT WOS:000286661500009 PM 21165691 ER PT J AU Anders, TF Iosif, AM Schwichtenberg, AJ Tang, KR Goodlin-Jones, BL AF Anders, Thomas F. Iosif, Ana-Maria Schwichtenberg, A. J. Tang, Karen Goodlin-Jones, Beth L. TI Six-Month Sleep-Wake Organization and Stability in Preschool-Age Children With Autism, Developmental Delay, and Typical Development SO BEHAVIORAL SLEEP MEDICINE LA English DT Article ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SPECTRUM DISORDERS; ASPERGERS-DISORDER; PARENTING STRESS; PATTERNS; BEHAVIOR; ACTIGRAPHY; DURATION; MOTHERS AB This study examined sleep-wake patterns in 3 matched comparison groups of preschool-aged children: children with autism (AUT), children with developmental delay (DD) without AUT, and children who are developing typically (TYP). Sleep was assessed via actigraphy and parent-report diaries for 7 consecutive 24-hr periods across 3 time points: at enrollment (n = 194), 3 months later (n = 179), and 6 months after enrollment (n = 173). At each recording period, children in the AUT group slept less per 24-hr period, on average, and were less likely to awaken at night than children in the other two groups. In contrast, children in the DD group had more frequent and longer duration nighttime awakenings than children in the AUT group. Overall, children in the 2 neurodevelopmentally disordered groups demonstrated more night-to-night variability in their sleep-wake measures than children in the TYP group. C1 [Anders, Thomas F.; Schwichtenberg, A. J.; Tang, Karen; Goodlin-Jones, Beth L.] UC Davis MIND Inst, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA. [Iosif, Ana-Maria] Univ Calif Davis, Dept Publ Hlth Sci, Div Biostat, Sacramento, CA USA. RP Anders, TF (reprint author), UC Davis MIND Inst, Dept Psychiat & Behav Sci, 2825 50th St, Sacramento, CA 95817 USA. EM tfanders@gmail.com FU National Institute of Mental Health [RO-1-MH068232] FX This work was supported, in part, by Grant No. RO-1-MH068232, awarded to Thomas F. Anders from the National Institute of Mental Health. We are grateful to Stephanie Sitnick, Sara Waters, and Anny Wu for their assistance, and to the parents and children who participated. 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Sleep Med. PY 2011 VL 9 IS 2 BP 92 EP 106 DI 10.1080/15402002.2011.557991 PG 15 WC Clinical Neurology; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 750SS UT WOS:000289568900003 PM 21491232 ER PT J AU Roullet, FI Wohr, M Crawley, JN AF Roullet, Florence I. Woehr, Markus Crawley, Jacqueline N. TI Female urine-induced male mice ultrasonic vocalizations, but not scent-marking, is modulated by social experience SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Olfaction; Scent-marking; Ultrasonic vocalization; Communication; Mice ID EPHEMERAL SEX-PHEROMONE; MALE-TYPICAL BEHAVIORS; MUS-DOMESTICUS RUTTY; BTBR-T+TF/J MICE; MALE HOUSE MICE; AGGRESSIVE-BEHAVIOR; INDIVIDUAL RECOGNITION; MATING-BEHAVIOR; INBRED STRAINS; OLFACTORY CUES AB Despite the evidence for a communicative function of rodent scent marks and ultrasonic vocalizations, relatively little is known about the impact of social factors on these two forms of communication. Here, we tested the effects of two important social factors, prior exposure to a female and freshness of female urine, on male scent marks and ultrasonic vocalizations elicited by female urine. We also asked whether a recently reported strain difference between the highly social strain C57BL/6J (B6) and the mouse model of autism BTBR T+tf/J (BTBR) herein is specifically seen in response to female urine or also detectable in response to male urine traces. Results show that the emission of female urine-elicited ultrasonic vocalizations was dependent on previous female experience, while scent-marking behavior was not affected. A positive correlation was detected between scent-marking behavior and ultrasonic calling in the most biologically relevant context, male mice exposed to fresh female urine after female experience. Correlations were less prominent or missing in less biologically relevant contexts, e.g. in male mice exposed to fresh female urine without previous female experience, indicating that previous female experience is affecting both the emission of female urine-elicited ultrasonic vocalizations and the correlation between olfactory and acoustic communication. The strain difference in scent-marking behavior and ultrasonic calling between B6 and BTBR appears to be specific to female urine-elicited behavior as it was not seen in response to male urine traces, highlighting the relevance of the social context in which mouse communication is evaluated. Published by Elsevier B.V. C1 [Roullet, Florence I.; Woehr, Markus; Crawley, Jacqueline N.] NIMH, Lab Behav Neurosci, Intramural Res Program, NIH, Bethesda, MD 20892 USA. RP Roullet, FI (reprint author), NIMH, Lab Behav Neurosci, Intramural Res Program, NIH, PNRC Bldg 35,Room 1C903, Bethesda, MD 20892 USA. 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PD JAN 1 PY 2011 VL 216 IS 1 BP 19 EP 28 DI 10.1016/j.bbr.2010.06.004 PG 10 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 694SG UT WOS:000285318500003 PM 20540967 ER PT J AU DeLorey, TM Sahbaie, P Hashemi, E Li, WW Salehi, A Clark, DJ AF DeLorey, Timothy M. Sahbaie, Peyman Hashemi, Ezzat Li, Wen-Wu Salehi, Ahmad Clark, David J. TI Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3 SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Gabrb3; GABA; Sensorimotor gating; Sensory processing; Tactile hypersensitivity; Heat hypersensitivity; Reticular thalamic nucleus; Bed nucleus of stria terminalis; Autism spectrum disorder ID RECEPTOR-BETA-3 SUBUNIT GENE; MARBLE-BURYING BEHAVIOR; GABA(A) RECEPTOR; PREPULSE INHIBITION; ANGELMAN-SYNDROME; MICE LACKING; GENE/TRANSCRIPT EXPRESSION; CHROMOSOME 15Q11-Q13; GATING ABNORMALITIES; MICROARRAY ANALYSIS AB Autism spectrum disorder (ASD) is diagnosed based on three core features: impaired social interactions, deficits in communication and repetitive or restricted behavioral patterns. Against this backdrop, abnormal sensory processing receives little attention despite its prevalence and the impact it exerts on the core diagnostic features. Understanding the source of these sensory abnormalities is paramount to developing intervention strategies aimed at maximizing the coping ability of those with ASD. Consequently, we chose to examine whether sensory abnormalities were present in mice heterozygous for the Gabrb3 gene, a gene strongly associated with ASD. Mice were assessed for tactile and heat sensitivity, sensorimotor competence (accelerating rotarod task) and sensorimotor gating by prepulse inhibition of the acoustic startle reflex (PPI). All heterozygotes exhibited an increase in seizure susceptibility and similar reductions in Gabrb3 expression in the dorsal root ganglia, spinal cord, whole brain and amygdala. Interestingly, significant differences were noted between heterozygous variants in regards to tactile sensitivity, heat sensitivity, sensorimotor competence and PPI along with differences in Gabrb3 expression in the reticular thalamic nucleus and the bed nucleus of stria terminalis. These differences were influenced by the heterozygotes' gender and whether the Gabrb3 gene was of paternal or maternal origin. These results are not adequately explained by simple haploinsufficiency of Gabrb3, therefore, additional mechanisms are likely to be involved. In addition, this is the first report of the occurrence of tactile and heat hypersensitivity in an ASD mouse model, two features often associated with ASD. (C) 2010 Published by Elsevier B.V. C1 [DeLorey, Timothy M.; Sahbaie, Peyman; Hashemi, Ezzat] Mol Res Inst, Palo Alto, CA 94303 USA. [Salehi, Ahmad] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Vet Affairs Palo Alto Hlth Care Syst, Palo Alto, CA 94304 USA. [Li, Wen-Wu; Clark, David J.] Stanford Univ, Sch Med, Dept Anesthesiol, Vet Affairs Palo Alto Hlth Care Syst, Palo Alto, CA 94304 USA. RP DeLorey, TM (reprint author), Mol Res Inst, Palo Alto, CA 94303 USA. 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TI Acute prenatal exposure to ethanol and social behavior: Effects of age, sex, and timing of exposure SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Adolescence; Autism; Fetal alcohol syndrome; Gastrulation; Sex differences ID FETAL ALCOHOL SYNDROME; MAIN OLFACTORY SYSTEM; SPRAGUE-DAWLEY RATS; JUVENILE RATS; CEREBELLAR PURKINJE; RATTUS-NORVEGICUS; CLINICAL FINDINGS; ADOLESCENT RATS; ANIMAL-MODELS; PLAY-BEHAVIOR AB During development of the central nervous system, neurons pass through critical periods of vulnerability to environmental factors. Exposure to ethanol during gastrulation or during neuronal generation results in a permanent reduction in the number of neurons in trigeminal-associated cranial nerve nuclei. Normal functioning of the trigeminal system is required for social behavior, the present study examined the effects of acute prenatal exposure to ethanol on social interactions across ontogeny. Pregnant Long-Evans rats were injected with 2.9 g/kg ethanol (i.p., 20%, v/v solution; peak blood ethanol concentrations of similar to 300 mg/dl) or an equivalent volume of saline on gestational day (G) 7 (gastrulation) or G12 (neuronal generation). Subsequently, social investigation, play fighting, contact behavior, social motivation, and overall locomotor activity in the social context were assessed in male and female off-spring during early adolescence, late adolescence, or adulthood, on postnatal day (P) 28, P42, or P75, respectively, using a modified social interaction test. Ethanol exposure on G7 resulted in mild changes of social behavior evident in young adolescents only. In contrast, animals exposed to ethanol on G12 demonstrated pronounced behavioral deficits throughout ontogeny, with deficits being most robust in male off-spring. Males exposed to ethanol on G12 showed decreases in social investigation, contact behavior, and play fighting, whereas a decrease in social motivation, i.e., transformation of social preference into social avoidance, was evident at P42 and P75 regardless of sex. These findings show that acute exposure to ethanol alters social behavior, and that the timing of the exposure defines the behavioral outcome. (C) 2010 Elsevier B.V. All rights reserved. C1 [Mooney, Sandra M.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA. [Mooney, Sandra M.; Varlinskaya, Elena I.] Dev Exposure Alcohol Res Ctr, Binghamton, NY 13902 USA. [Mooney, Sandra M.; Varlinskaya, Elena I.] Dev Exposure Alcohol Res Ctr, Cortland, NY 13054 USA. [Mooney, Sandra M.; Varlinskaya, Elena I.] Dev Exposure Alcohol Res Ctr, Syracuse, NY 13210 USA. [Varlinskaya, Elena I.] SUNY Binghamton, Ctr Dev & Behav Neurosci, Dept Psychol, Binghamton, NY 13902 USA. 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Brain Res. PD JAN 1 PY 2011 VL 216 IS 1 BP 358 EP 364 DI 10.1016/j.bbr.2010.08.014 PG 7 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 694SG UT WOS:000285318500048 PM 20728475 ER PT J AU Pobbe, RLH Defensor, EB Pearson, BL Bolivar, VJ Blanchard, DC Blanchard, RJ AF Pobbe, Roger L. H. Defensor, Erwin B. Pearson, Brandon L. Bolivar, Valerie J. Blanchard, D. Caroline Blanchard, Robert J. TI General and social anxiety in the BTBR T plus tf/J mouse strain SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Anxiety; Autism; Social behavior; Mouse models; BTBR ID PSYCHIATRIC-DISORDERS; BEHAVIORAL ASSAYS; INBRED STRAINS; ANIMAL-MODELS; T+TF/J MICE; AUTISM; GENETICS; DIAZEPAM; PHENOTYPES; RELEVANT AB BTBR T+ tf/J (BTBR) is an inbred mouse strain that shows behavioral traits with analogies to the three diagnostic symptoms of autism spectrum disorder (ASD); deficits in social interaction, impaired communication, and repetitive behaviors with restricted interests. Previous findings reveal that when compared to C57BL/6J (B6) and other inbred strains, BTBR exhibit normal to low anxiety-like traits in paradigms designed to assess anxiety-related behaviors. The current study assessed the generality of these anxiety findings. In experiment 1, B6 and BTBR mice were tested in the elevated plus maze (EPM), mouse defense test battery (MDTB) and elevated zero-maze. BTBR mice exhibited an anxiogenic profile in the EPM, with a reduction in open arm time and an increase in risk assessment behaviors, as compared to B6. In the MDTB, BTBR showed enhanced vocalization to the predator, and significantly less locomotor activity than B6 in the pre-threat situation, but significantly more locomotion than B6 following exposure to a predator threat, suggesting enhanced defensiveness to the predator. In the zero-maze. BTBR mice showed a significantly higher number of entries and time spent in the open segments of the apparatus, when compared to B6. In experiment 2, a three-chambered social preference test was used to evaluate effects of the systemic administration of an anxiolytic compound, diazepam, on B6 and BTBR social approach. Diazepam consistently increased time in the compartment containing the social stimulus, for both B6 and BTBR mice. However, in the vehicle treated groups, B6 mice spent significantly more time while BTBR mice spent significantly less time in the social stimulus compartment; after diazepam administration both B6 and BTBR strains significantly preferred the social stimulus chamber. These results suggest that while the anxiety responses of BTBR mice to novel situations (EPM and zero-maze) are inconsistent, BTBR mice appear to be more defensive to animate threat stimuli (predator or another mouse). Reduction of anxiety by diazepam normalized the social preference of BTBR for a mouse stimulus in the three-chambered test. (C) 2010 Elsevier B.V. All rights reserved. C1 [Pobbe, Roger L. H.; Defensor, Erwin B.; Pearson, Brandon L.; Blanchard, D. Caroline; Blanchard, Robert J.] Univ Hawaii, Pacific Biosci Res Ctr, Honolulu, HI 96822 USA. [Bolivar, Valerie J.] New York State Dept Hlth, Wadsworth Ctr, Albany, NY 12208 USA. [Bolivar, Valerie J.] SUNY Albany, Sch Publ Hlth, Dept Biomed Sci, Albany, NY USA. [Blanchard, D. Caroline] Univ Hawaii, John A Burns Sch Med, Dept Genet & Mol Biol, Honolulu, HI 96822 USA. [Blanchard, Robert J.] Univ Hawaii, Dept Psychol, Honolulu, HI 96822 USA. RP Pobbe, RLH (reprint author), Univ Hawaii, Pacific Biosci Res Ctr, 1993 East West Rd, Honolulu, HI 96822 USA. EM rogerlh@hawaii.edu FU National Institute of Mental Health (NIMH) [MH081845-01A2] FX The present study was supported by the National Institute of Mental Health (NIMH) grant MH081845-01A2 to RJB. 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PD JAN 1 PY 2011 VL 216 IS 1 BP 446 EP 451 DI 10.1016/j.bbr.2010.08.039 PG 6 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 694SG UT WOS:000285318500061 PM 20816701 ER PT J AU Ashwood, P Krakowiak, P Hertz-Picciotto, I Hansen, R Pessah, I de Water, JV AF Ashwood, Paul Krakowiak, Paula Hertz-Picciotto, Irva Hansen, Robin Pessah, Isaac Van de Water, Judy TI Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome SO BRAIN BEHAVIOR AND IMMUNITY LA English DT Article DE Autism; Cytokines; Behavior; Immunology; Regression ID DECREASED SERUM-LEVELS; GASTROINTESTINAL SYMPTOMS; INTERFERON-GAMMA; INHIBITORY FACTOR; PERIPHERAL-BLOOD; CHILDREN; BRAIN; ACTIVATION; CELLS; AUTOANTIBODIES AB Autism spectrum spectrum disorders (ASD) are characterized by impairment in social interactions, communication deficits, and restricted repetitive interests and behaviors. A potential role for immune dysfunction has been suggested in ASD. To test this hypothesis, we investigated evidence of differential cytokine release in plasma samples obtained from 2 to 5 year-old children with ASD compared with age-matched typically developing (TD) children and children with developmental disabilities other than autism (DD). Participants were recruited as part of the population based case-control CHARGE (Childhood Autism Risks from Genetics and Environment) study and included: 97 participants with a confirmed diagnosis of ASD using standard assessments (DSM IV criteria and ADOS, ADI-R), 87 confirmed TD controls, and 39 confirmed DD controls. Plasma was isolated and cytokine production was assessed by multiplex Luminex (TM) analysis. Observations indicate significant increases in plasma levels of a number of cytokines, including IL-1 beta, IL-6, IL-8 and IL-12p40 in the ASD group compared with TD controls (p < 0.04). Moreover, when the ASD group was separated based on the onset of symptoms, it was noted that the increased cytokine levels were predominantly in children who had a regressive form of ASD. In addition, increasing cytokine levels were associated with more impaired communication and aberrant behaviors. In conclusion, using larger number of participants than previous studies, we report significantly shifted cytokine profiles in ASD. These findings suggest that ongoing inflammatory responses may be linked to disturbances in behavior and require confirmation in larger replication studies. The characterization of immunological parameters in ASD has important implications for diagnosis, and should be considered when designing therapeutic strategies to treat core symptoms and behavioral impairments of ASD. (C) 2010 Elsevier Inc. All rights reserved. C1 [Ashwood, Paul; Hertz-Picciotto, Irva; Hansen, Robin; Pessah, Isaac; Van de Water, Judy] Med Invest Neuodev Disorders MIND Inst, Dept Microbiol & Immunol, UC Davis Hlth Syst, Sacramento, CA 95817 USA. [Ashwood, Paul] Univ Calif Davis, Dept Med Microbiol & Immunol, Davis, CA 95616 USA. [Krakowiak, Paula; Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, Div Epidemiol, Davis, CA 95616 USA. [Hansen, Robin] Univ Calif Davis, Sch Med, Dept Pediat, Davis, CA 95616 USA. [Pessah, Isaac] Univ Calif Davis, Sch Vet Med, Dept Mol Biosci, Davis, CA 95616 USA. [Van de Water, Judy] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Davis, CA 95616 USA. RP Ashwood, P (reprint author), Med Invest Neuodev Disorders MIND Inst, Dept Microbiol & Immunol, UC Davis Hlth Syst, 2805 50th St, Sacramento, CA 95817 USA. EM pashwood@ucdavis.edu FU NIEHS Children's Center [2 P01 ES011269]; US EPA [R833292, R829388]; NIEHS Autism Speaks Foundation [R01ES015359]; Peter Emch Foundation; Boler Company Foundation; Johnson Foundation FX This study was funded by the NIEHS Children's Center Grant (2 P01 ES011269), US EPA STAR program Grant (R833292 and R829388), NIEHS CHARGE study (R01ES015359) Autism Speaks Foundation, Peter Emch Foundation, The Boler Company Foundation and the Johnson Foundation. We would like to thank and the staff of both the UC Davis M.I.N.D Institute and the CHARGE study, and Christina Kwong and Angela Tarver for their technical support. The commitment of the families who took part in these studies is gratefully acknowledged. 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Immun. PD JAN PY 2011 VL 25 IS 1 BP 40 EP 45 DI 10.1016/j.bbi.2010.08.003 PG 6 WC Immunology; Neurosciences SC Immunology; Neurosciences & Neurology GA 690UF UT WOS:000285033200006 PM 20705131 ER PT J AU Temudo, T Santos, M Ramos, E Dias, K Vieira, JP Moreira, A Calado, E Carrilho, I Oliveira, G Levy, A Barbot, C Fonseca, M Cabral, A Cabral, P Monteiro, J Borges, L Gomes, R Mira, G Pereira, SA Santos, M Fernandes, A Epplen, JT Sequeiros, J Maciel, P AF Temudo, Teresa Santos, Monica Ramos, Elisabete Dias, Karin Vieira, Jose Pedro Moreira, Ana Calado, Eulalia Carrilho, Ines Oliveira, Guiomar Levy, Antonio Barbot, Clara Fonseca, Maria Cabral, Alexandra Cabral, Pedro Monteiro, Jose Borges, Luis Gomes, Roseli Mira, Graca Pereira, Susana Aires Santos, Manuela Fernandes, Anabela Epplen, Jorg T. Sequeiros, Jorge Maciel, Patricia TI Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes SO BRAIN & DEVELOPMENT LA English DT Article DE Autism; Mental retardation; Movement disorder; Cerebellum; Clinical criteria; Clinical stage ID X-CHROMOSOME INACTIVATION; GENOTYPE; LOCATION; SEVERITY; GENE AB Background: The diagnosis of Rett syndrome (Rh) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group 1) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Temudo, Teresa] Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal. [Santos, Monica; Fernandes, Anabela; Maciel, Patricia] Univ Minho, Inst Invest Ciencias Vida & Saude ICVS, Escola Ciencias Saude, Braga, Portugal. [Santos, Monica; Sequeiros, Jorge] Univ Porto, ICBAS, Oporto, Portugal. [Ramos, Elisabete] Univ Porto, Serv Higiene & Epidemiol, Fac Med, Oporto, Portugal. [Dias, Karin; Vieira, Jose Pedro; Moreira, Ana; Calado, Eulalia] Hosp Da Estefania, Serv Neuropediat, Lisbon, Portugal. [Carrilho, Ines; Barbot, Clara; Santos, Manuela] Hosp Criancas Maria Pia, Serv Neuropediat, Oporto, Portugal. [Oliveira, Guiomar; Cabral, Alexandra; Borges, Luis] Hosp Pediat, Ctr Neuropediat, Cohnbra, Portugal. [Levy, Antonio] Hosp Santa Maria, Serv Pediat, Lisbon, Portugal. [Fonseca, Maria; Monteiro, Jose] Hosp Garcia da Horta, Serv Pediat, Almada, Portugal. [Cabral, Pedro] Hosp Egas Moniz, Serv Neurol, Lisbon, Portugal. [Gomes, Roseli] Hosp Pedro Hispano, Serv Pediat, Matosinhos, Portugal. [Mira, Graca] Hosp Espirito Santo, Serv Pediat, Evora, Portugal. [Pereira, Susana Aires] Hosp Vila Nova de Gaia, Serv Pediat, Vila Nova De Gaia, Portugal. [Epplen, Jorg T.] Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany. [Sequeiros, Jorge] UnIGENe, IBMC Inst Mol & Cell Biol, Oporto, Portugal. RP Temudo, T (reprint author), Hosp Santo Antonio, Serv Pediat, Unidade Neuropediat, SA, P-4099001 Oporto, Portugal. 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PD JAN PY 2011 VL 33 IS 1 BP 69 EP 76 DI 10.1016/j.braindev.2010.01.004 PG 8 WC Clinical Neurology SC Neurosciences & Neurology GA 715TN UT WOS:000286910700011 PM 20116947 ER PT J AU Tuchman, R AF Tuchman, Roberto TI Leptin as a new approach for treatment for autism and epilepsy, a hypothesis with clinical implications Reply SO BRAIN & DEVELOPMENT LA English DT Letter C1 [Tuchman, Roberto] Miami Childrens Hosp, Dept Neurol, Dan Marino Ctr, Weston, FL USA. RP Tuchman, R (reprint author), Miami Childrens Hosp, Dept Neurol, Dan Marino Ctr, 2900 S Commerce Pkwy, Weston, FL USA. EM tuchman@att.net CR Tuchman R, 2010, BRAIN DEV-JPN, V32, P719, DOI 10.1016/j.braindev.2010.05.007 NR 1 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0387-7604 J9 BRAIN DEV-JPN JI Brain Dev. PD JAN PY 2011 VL 33 IS 1 BP 92 EP 93 DI 10.1016/j.braindev.2010.08.009 PG 2 WC Clinical Neurology SC Neurosciences & Neurology GA 715TN UT WOS:000286910700018 ER PT J AU Lakatosova, S Celec, P Schmidtova, E Kubranska, A Durdiakova, J Ostatnikova, D AF Lakatosova, S. Celec, P. Schmidtova, E. Kubranska, A. Durdiakova, J. Ostatnikova, D. TI The impact of serotonergic stimulation on reelin and glutamate decarboxylase gene expression in adult female rats SO BRATISLAVA MEDICAL JOURNAL-BRATISLAVSKE LEKARSKE LISTY LA English DT Article DE serotonin; reelin; glutamate decarboxylase; autism ID SYNAPTIC PLASTICITY; 67 KDA; RECEPTORS; NEURONS; HIPPOCAMPUS; AUTISM; MEMORY; ACID; MODULATION; PROTEINS AB Background: Reelin plays an important role in the regulation of synaptic plasticity in adulthood. Administration of 5-metoxytryptamine (5MT), an agonist of serotonin receptors, during natal and neonatal periods results in decreased reelin expression. In adulthood, reelin is expressed by GABAergic neurons. Objectives: The purpose of this study was to reveal the effect of elevated serotonergic stimulation on the expression of reelin and glutamate decarboxylase (GAD1) in adulthood as well as on depressive behavior and spatial cognitive abilities in adult female rats. Methods: Rats were injected with 5MT. A forced swimming test was used for evaluation of the depressive behavior and Morris water maze test was used for evaluation of spatial cognition. Brains were used for measuring the expression of reelin and GAD1. Results: We found a significant decrease in reelin expression in the cerebellum and prefrontal cortex of 5MT-treated rats. GAD1 expression was decreased in the cerebellum of 5MT-treated rats. 5MT-treated rats reached a lower immobility score in the forced swimming test. The Morris water maze test did not reveal any significant differences. Conclusion: We have shown that administration of serotonin receptor agonist resulted in a decreased RELN and GAD1 expression in the cerebellum of adult female rats. We propose that this phenomenon might be relevant in the pathogenesis of autism (Fig. 3, Ref. 38). Full Text in free PDF www.bmj.sk. C1 [Lakatosova, S.; Celec, P.; Schmidtova, E.; Kubranska, A.; Durdiakova, J.; Ostatnikova, D.] Comenius Univ, Fac Med, Inst Physiol, SK-81372 Bratislava, Slovakia. RP Lakatosova, S (reprint author), Comenius Univ, Fac Med, Inst Physiol, Sasinkova 2, SK-81372 Bratislava, Slovakia. EM silvia.lakatosova@gmail.com RI Celec, Peter/I-7103-2012 OI Celec, Peter/0000-0001-5883-3580 FU [AV 4/0038/07]; [MZSR 07B030702]; [UK/116/2008]; [VEGA1/0305/09] FX This project was supported by grants AV 4/0038/07, MZSR 07B030702, UK/116/2008, VEGA1/0305/09. 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These findings are discussed with reference to the "extreme male - brain" theory of autism. Results achieved in this interdisciplinary research are valuable in further biological and psychological approaches in neurocognitive research and diagnostics of children from ASD (Tab. 1, Ref. 38). Full Text in free PDF www.bmj.sk. C1 [Krajmer, P.; Kubranska, A.; Ostatnikova, D.] Comenius Univ, Inst Physiol, Fac Med, Bratislava 81372, Slovakia. [Spajdel, M.] Univ Trnava, Fac Arts, Dept Psychol, Trnava, Slovakia. [Spajdel, M.] Slovak Acad Sci, Inst Normal & Pathol Physiol, Bratislava, Slovakia. RP Krajmer, P (reprint author), Comenius Univ, Inst Physiol, Fac Med, Sasinkova 2, Bratislava 81372, Slovakia. EM krajmerpeter@gmail.com FU [MZSR 2006/22 - UK-01]; [AV 4/0038/07]; [VEGA 1/0305/09]; [UK/116/2008]; [UK/430/2009] FX The authors are thankful to all children and their families for participating in this study. 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PY 2011 VL 74 IS 1 BP 86 EP 87 PG 2 WC Neurosciences; Surgery SC Neurosciences & Neurology; Surgery GA 727HB UT WOS:000287787700016 ER PT J AU Hrdlicka, M AF Hrdlicka, Michal TI Autobiographies of persons with autism: unknown views on inner experience of autistic handicap SO CESKOSLOVENSKA PSYCHOLOGIE LA Czech DT Article DE autism; Asperger syndrome; autobiographies AB The article analyses three autobiographies of autistic individuals translated into the Czech language Nobody nowhere (Donna Williams), Life behind glass (Wendy Lawson), and Life with Asperger syndrome: a story of psychotherapy (Christine Preissmann). It shows, how the authors describe their specific symptoms and interests, family and partner relationships and career. The analysis focuses on strategies that were selected by the authors for coping with the autistic handicap. It comes to a conclusion that autistic persons consider different symptoms to be the worst than those conventionally described in textbooks and monographs on autism. In these three autobiographies, sensory overload in stressful situations was estimated from the subjective point of view to be the most unpleasant symptom. C1 Lekarska Fak UK Praha 1, Detska Psychiat Klin, LF UK & FN Motol 2, Prague 15006 5, Motol, Czech Republic. RP Hrdlicka, M (reprint author), Lekarska Fak UK Praha 1, Detska Psychiat Klin, LF UK & FN Motol 2, V Uvalu 84, Prague 15006 5, Motol, Czech Republic. 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Psychol. PY 2011 VL 55 IS 1 BP 82 EP 89 PG 8 WC Psychology, Multidisciplinary SC Psychology GA 743NE UT WOS:000289024200008 ER PT J AU Leghissa, J Marlier, L AF Leghissa, Jasna Marlier, Luc TI Olfactory responses in children with and without autism SO CHEMICAL SENSES LA English DT Meeting Abstract CT 20th Congress of European Chemoreception Research Organization (ECRO-2010) CY SEP 14-19, 2010 CL Avignon, FRANCE SP European Chemoreception Res Org C1 Univ Strasbourg, Strasbourg, France. Ctr Natl Rech Sci, Paris, France. EM l_jasna@hotmail.com; luc.marlier@linc.u-strasbg.fr NR 0 TC 0 Z9 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0379-864X J9 CHEM SENSES JI Chem. Senses PD JAN PY 2011 VL 36 IS 1 BP E59 EP E59 PG 1 WC Behavioral Sciences; Food Science & Technology; Neurosciences; Physiology SC Behavioral Sciences; Food Science & Technology; Neurosciences & Neurology; Physiology GA 696AS UT WOS:000285414900159 ER PT J AU Kochhar, P Batty, MJ Liddle, EB Groom, MJ Scerif, G Liddle, PF Hollis, CP AF Kochhar, P. Batty, M. J. Liddle, E. B. Groom, M. J. Scerif, G. Liddle, P. F. Hollis, C. P. TI Autistic spectrum disorder traits in children with attention deficit hyperactivity disorder SO CHILD CARE HEALTH AND DEVELOPMENT LA English DT Article DE ADHD ASD; communication; comorbidity diagnosis ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT/HYPERACTIVITY DISORDER; TWIN SAMPLE; ADHD; PSYCHOPATHOLOGY; COMORBIDITY; SYMPTOMS; QUESTIONNAIRE; PREVALENCE AB Background Current classification systems do not allow for comorbid diagnoses of attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD) Children with ADHD are often screened for ASD during clinical assessment and when recruited to clinical trials We predicted that children with ADHD would have more autistic traits than controls and that certain traits would be more prevalent Methods The clinically referred sample consisted of 30 children with ADHD and 30 matched controls aged 9-15 years Children were screened for ASD traits using the Social Aptitudes Scale (SAS) and the Social Communication Questionnaire (SCQ) Results We found that ASD traits were significantly higher in children with ADHD than controls None of the children received a diagnosis of autism or ASD However, a large proportion (28% using the SCQ and 62% using the SAS) of children with ADHD reached screening thresholds for a predictive diagnosis of ASD Relative to controls, children with ADHD had significantly higher levels of communication and social deficits, but not repetitive behaviours Conclusion Further work is needed to establish whether autistic-like communication and social difficulties in children with ADHD are part of the broader ASD phenotype or are specific to ADHD C1 [Kochhar, P.; Batty, M. J.; Liddle, E. B.; Groom, M. J.; Liddle, P. F.; Hollis, C. P.] Univ Nottingham, Div Psychiat, Queens Med Ctr, Nottingham NG7 2UH, England. [Scerif, G.] Univ Oxford, Dept Expt Psychol, Oxford OX1 3UD, England. RP Kochhar, P (reprint author), Univ Nottingham, Div Psychiat, Queens Med Ctr, Derby Rd, Nottingham NG7 2UH, England. 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PD JAN PY 2011 VL 37 IS 1 BP 103 EP 110 DI 10.1111/j.1365-2214.2010.01123.x PG 8 WC Psychology, Developmental; Pediatrics SC Psychology; Pediatrics GA 701JV UT WOS:000285815100013 PM 20666783 ER PT J AU Huizinga, M Smidts, DP AF Huizinga, Mariette Smidts, Diana P. TI Age-Related Changes in Executive Function: A Normative Study with the Dutch Version of the Behavior Rating Inventory of Executive Function (BRIEF) SO CHILD NEUROPSYCHOLOGY LA English DT Article DE Executive function; Development; Children; Behavior regulation; Metacognition ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; TRAUMATIC BRAIN-INJURY; AUTISM SPECTRUM DISORDERS; LATENT VARIABLE ANALYSIS; INTEGRATIVE THEORY; PREFRONTAL CORTEX; FUNCTION DEFICITS; WORKING-MEMORY; FOLLOW-UP; CHILDREN AB This study examined age-related change in executive function by using a Dutch translation of the Behavior Rating Inventory of Executive Function (BRIEF; Gioia et al., 2000) that was applied to a normative sample (age range 5-18 years). 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Fryssira, Helen Kodakos, Anastassios Kaila, Maria Benaveli, Evangelia Michaelides, Konstantinos Stroggilos, Vassilis Vrettopoulou, Maria Polemikos, Nikitas TI Nonverbal communication, play, and language in Greek young children with Williams syndrome SO CHILD NEUROPSYCHOLOGY LA English DT Article DE Williams syndrome; Nonverbal communication; Play; Language comprehension; Language production ID JOINT ATTENTION; SYMBOLIC PLAY; DOWN-SYNDROME; 2ND YEAR; TODDLERS; BEHAVIOR; INFANTS; AUTISM; INDIVIDUALS; ADOLESCENTS AB This study investigated nonverbal communicative abilities, functional play, and symbolic play in 11 toddlers with Williams syndrome (WS) during spontaneous communication. The WS group was compared with a group of typically developing (TD) children matched for linguistic abilities. Results demonstrated that children with WS exhibited significantly less spontaneous functional play and imaginary play compared to TD children. On the other hand, children with WS showed significantly more showing and giving guided by their parents than TD children. In addition, it was shown that in both groups aspects of symbolic play are correlated with expressive as well as receptive language. These findings are interpreted through the Theory of Intersubjectivity, which contrasts with the Theory of Mind and suggests that shared arbitrary purposes regarding actions on objects constitute presuppositions for the development of language. C1 [Papaeliou, Christina F.; Kodakos, Anastassios; Kaila, Maria; Vrettopoulou, Maria; Polemikos, Nikitas] Univ Aegean, Dept Presch Educ & Educ Planning, Aegean, Greece. [Fryssira, Helen] Univ Athens, Sch Med, GR-10679 Athens, Greece. [Benaveli, Evangelia] Univ Athens, Dept Psychol, GR-10679 Athens, Greece. [Michaelides, Konstantinos] Univ Athens, Expt Special Educ Sch, GR-10679 Athens, Greece. [Stroggilos, Vassilis] Univ Thessaly, Dept Presch Educ, Thessaloniki, Greece. RP Papaeliou, CF (reprint author), Miltiadou St 39, Athens 17563, Greece. EM papailiou@rhodes.aegean.gr FU Hellenic Ministry of National Education and Religious Affairs' [MIS 111582] FX This research is funded by the Hellenic Ministry of National Education and Religious Affairs' "Operational Programme for Education and Initial Vocational Training" (MIS 111582). 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Bollich, Angela Kenworthy, Lauren TI Impaired Consonant Trigrams Test (CTT) performance relates to everyday working memory difficulties in children with Autism Spectrum Disorders SO CHILD NEUROPSYCHOLOGY LA English DT Article DE Autism Spectrum Disorder; Divided attention; Executive function; Asperger's Syndrome; Working memory ID EXECUTIVE FUNCTION; DIVIDED ATTENTION; DEVELOPMENTAL DISORDERS; DIAGNOSTIC INTERVIEW; VARIABILITY; PROFILES; SYMPTOMS; CAPACITY; BEHAVIOR; DEFICITS AB Individuals with Autism Spectrum Disorders (ASD) often struggle with complex tasks, such as those requiring divided attention (simultaneously completing two independent tasks) that also place high demands on working memory. Prior research shows that divided attention is impaired in adults and children with ASD and is related to ASD and comorbid attention deficit/hyperactivity disorder (ADHD) symptoms, but the impact on everyday functioning is unclear. Because ADHD symptoms are associated with poor divided attention and working memory performance in children with ASD, we also examined ADHD symptoms as moderators of divided attention performance. We examined performance on the Consonant Trigrams Test (CTT) between high-functioning 8- to 13-year-olds with ASD (n=28) and typically developing controls (n=18) matched on age and IQ. In the ASD group, we also correlated performance with ADHD symptoms and behavior ratings of everyday working memory. CTT performance in children with ASD was significantly worse than in matched controls. A significant correlation between CTT performance and everyday working memory was observed, but CTT performance was not related to comorbid ADHD symptoms in the ASD group. Divided attention with high working-memory demands is a relative weakness in children with high-functioning ASD; this weakness relates to everyday functioning, and it is independent from ADHD symptoms. That ADHD symptoms are not associated with divided attention performance is inconsistent with one prior investigation, which likely results from using different divided attention tasks in the two studies. C1 [Yerys, Benjamin E.; Jankowski, Kathryn F.; Bollich, Angela; Kenworthy, Lauren] Childrens Natl Med Ctr, Childrens Res Inst, Ctr Neurosci, Washington, DC 20010 USA. [Yerys, Benjamin E.; Jankowski, Kathryn F.; Bollich, Angela; Kenworthy, Lauren] Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, Washington, DC 20010 USA. [Yerys, Benjamin E.; Bollich, Angela; Kenworthy, Lauren] George Washington Univ, Sch Med & Hlth Sci, Dept Psychiat & Behav Sci, Washington, DC 20052 USA. [Wallace, Gregory L.; Kenworthy, Lauren] NIMH, Lab Brain & Cognit, Bethesda, MD 20892 USA. RP Yerys, BE (reprint author), Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, 15245 Shady Grove Rd,Suite 350, Rockville, MD 20850 USA. EM byerys@cnmc.org FU BRIEF; Frederick and Elizabeth Singer Foundation; Gudelsky Foundation; Studies for the Advancement of Autism Research and Treatment (STAART: NIMH) [U54 MH066417]; Intellectual and Developmental Disabilities Research Center at Children's National Medical Center (NIH IDDRC) [P30HD40677]; General Clinic Research Center (NIH GCRC) [M01-RR13297]; NIH, National Institute of Mental Health FX We thank the children and families that offered their time and energy for the current study. One author (LK) receives financial compensation from the BRIEF. There are no conflicts of interest, financial or otherwise, for the remaining authors involved directly or indirectly with this article. This work was supported by the Frederick and Elizabeth Singer Foundation, the Gudelsky Foundation, and the Studies for the Advancement of Autism Research and Treatment (STAART: NIMH U54 MH066417) for supporting data collection. BEY, and in part this work, was supported by the Intellectual and Developmental Disabilities Research Center at Children's National Medical Center (NIH IDDRC P30HD40677) and the General Clinic Research Center (NIH GCRC M01-RR13297). GLW was supported by the Intramural Program of the NIH, National Institute of Mental Health. 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PY 2011 VL 17 IS 4 BP 391 EP 399 DI 10.1080/09297049.2010.547462 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA 885OG UT WOS:000299787900005 PM 21390918 ER PT J AU Gana, S Panizzon, M Fongaro, D Selicorni, A Memo, L Scandurra, V Vannucci, C Bigozzi, M Scordo, MR AF Gana, Simone Panizzon, Michela Fongaro, Daniela Selicorni, Angelo Memo, Luigi Scandurra, Valeria Vannucci, Chiara Bigozzi, Marta Scordo, Maria Rosaria TI Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder SO CLINICAL DYSMORPHOLOGY LA English DT Article DE autism spectrum disorder; interphalangeal swelling; mental retardation; Nicolaides-Baraitser syndrome; short stature; sparse hair; triangular face ID MENTAL-RETARDATION; SPARSE HAIR; INTELLECTUAL DISABILITY; PHENOTYPE; GENETICS AB Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The genetic background of Nicolaides-Baraitser syndrome is unclear in terms of cause and mode of inheritance, one of the more probable explanations is de novo mutation of a dominant gene. Some reported patients presented autistic features, although in none of these patients was the diagnosis of autism spectrum disorder formally made. We describe two unrelated patients with clinical features suggesting Nicolaides-Baraitser syndrome and, in addition, autism spectrum disorder is defined by the presence of the three cardinal core features: qualitative impairments in social, communicative, and behavioral development. Clin Dysmorphol 20:38-41 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins. C1 [Panizzon, Michela; Fongaro, Daniela; Scandurra, Valeria; Vannucci, Chiara; Scordo, Maria Rosaria] Univ Florence, Dept Neurol & Psychiat Sci, Sect Child Neurol & Psychiat, Policlin Careggi, I-50134 Florence, Italy. [Gana, Simone] Univ Pavia, Dept Med Genet, I-27100 Pavia, Italy. [Bigozzi, Marta] ASL, Florence, Italy. [Selicorni, Angelo] Univ Milan, Dept Med Genet, Div Pediat, IRCCS Fdn Policlin, Milan, Italy. [Memo, Luigi] Osped San Martino, Div Pediatry & Neonatol, Belluno, Italy. RP Scordo, MR (reprint author), Univ Florence, Dept Neurol & Psychiat Sci, Sect Child Neurol & Psychiat, Policlin Careggi, Viale Morgagni 85, I-50134 Florence, Italy. 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Dysmorphol. PD JAN PY 2011 VL 20 IS 1 BP 38 EP 41 DI 10.1097/MCD.0b013e32833edaa9 PG 4 WC Genetics & Heredity SC Genetics & Heredity GA 691NO UT WOS:000285088300007 PM 20802310 ER PT J AU Filges, I Rothlisberger, B Blattner, A Boesch, N Demougin, P Wenzel, F Huber, AR Heinimann, K Weber, P Miny, P AF Filges, I. Roethlisberger, B. Blattner, A. Boesch, N. Demougin, P. Wenzel, F. Huber, A. R. Heinimann, K. Weber, P. Miny, P. TI Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism SO CLINICAL GENETICS LA English DT Article DE aCGH; autism; candidate gene; deletion in Xp22; 11; intellectual disability; PTCHD1; X-linked inheritance ID COMPARATIVE GENOMIC HYBRIDIZATION; IDIOPATHIC MENTAL-RETARDATION; ARRAY-CGH; CHROMOSOME INACTIVATION; STRUCTURAL VARIATION; XLMR GENES; DUPLICATIONS; SCREEN AB Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder cosegregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. Although the exact function of this gene is unknown to date, the structural overlap of its encoded patched domain-containing protein 1, the transmembrane protein involved in the sonic hedgehog pathway, and its expression in human cortex and cerebellum as well as in mice and drosophila brain suggests a causative role of its nullisomy in the developmental phenotype of our family. Our findings support the recent notions that PTCHD1 may play a role in X-linked intellectual disability (XLID) and autism disorders. C1 [Filges, I.; Boesch, N.; Wenzel, F.; Heinimann, K.; Miny, P.] Univ Childrens Hosp, Div Med Genet, CH-4005 Basel, Switzerland. [Filges, I.; Boesch, N.; Wenzel, F.; Heinimann, K.; Miny, P.] Dept Biomed, CH-4005 Basel, Switzerland. [Roethlisberger, B.; Blattner, A.; Huber, A. R.] Cantonal Hosp, Ctr Lab Med, Aarau, Switzerland. [Demougin, P.] Univ Basel, Life Sci Training Facil, Basel, Switzerland. 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TI [image omitted] Review of Five Instruments for the Assessment of Asperger's Disorder in Adults SO CLINICAL NEUROPSYCHOLOGIST LA English DT Review DE Krug Asperger's Disorder Index; Gilliam Asperger's Disorder Scale; Adult Asperger assessment; Asperger Syndrome (and high-functioning autism) Diagnostic Interview; Ritvo Autism and Asperger's Diagnostic Scale-Revised ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING AUTISM; SPECTRUM QUOTIENT AQ; EMPATHY QUOTIENT; DIAGNOSTIC INTERVIEW; RATING-SCALES; CONTENT VALIDITY; YOUNG-CHILDREN; ASSESSMENT AAA; RELIABILITY AB Due to the recent inclusion of Asperger's Disorder (AD) in the Diagnostic and Statistical Manual of Mental Disorders (APA, 1994) and the International Classification of Diseases (WHO, 1993), concerns regarding diagnosis of AD, particularly in adults, are emerging. Many existing instruments used to assess Pervasive Developmental Disorder are more appropriate for identifying Autistic Disorder (AU) in children, and their usefulness for assessing AD in adults is questionable. We describe and critically review five instruments created specifically for identifying AD in adults. Overall, the normative information provided is limited and evidence of the reliability and validity for each instrument is relatively poor. Further research and development is required before we would recommend one instrument over another for the assessment of AD in adults. C1 [Stoesz, Brenda M.; Montgomery, Janine M.; Smart, Sherri L.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada. [Hellsten, Laurie-Ann M.] Univ Saskatchewan, Dept Educ Psychol & Special Educ, Saskatoon, SK S7N 0W0, Canada. RP Stoesz, BM (reprint author), Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada. 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PY 2011 VL 25 IS 3 BP 376 EP 401 DI 10.1080/13854046.2011.559482 PG 26 WC Psychology, Clinical; Clinical Neurology; Psychology SC Psychology; Neurosciences & Neurology GA 751RU UT WOS:000289636100004 PM 21391154 ER PT J AU Stefanatos, G AF Stefanatos, Gerry TI Changing Perspectives on Landau-Kleffner Syndrome SO CLINICAL NEUROPSYCHOLOGIST LA English DT Article DE Epileptic aphasia; Language regression; Landau-Kleffner syndrome; Epileptic encephalopathy; Language disorder ID ACQUIRED EPILEPTIC APHASIA; TERM-FOLLOW-UP; AUTISTIC SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDER; ELECTRICAL STATUS EPILEPTICUS; SUPERIOR TEMPORAL SULCUS; SLOW-WAVE SLEEP; CONVULSIVE DISORDER; LANGUAGE DISORDERS; ELECTROENCEPHALOGRAPHIC ABNORMALITIES AB Landau-Kleffner syndrome (LKS) is a childhood disorder characterized by an acquired aphasia that emerges in association with epileptiform electroencephalographic abnormalities. The language loss is often characterized by a severe disturbance of auditory language comprehension (verbal auditory agnosia) combined with a substantial disruption of expressive language. Comorbid behavioral disturbances commonly involve hyperactivity and attentional problems but sometimes encompass a more pervasive pattern of difficulties resembling an autism spectrum disorder. Now one the most frequently described forms of acquired aphasia in children, LKS has had a profound influence on both neurological practice and cognitive neuroscience. Here, we review current conceptualizations of LKS, consider its pleomorphic manifestations and discuss existing and future diagnostic issues and dilemmas. The potential relevance of LKS to understanding other disorders, including autistic regression, is considered. C1 Temple Univ, Philadelphia, PA 19122 USA. RP Stefanatos, G (reprint author), Temple Univ, Room 110,1701N 13th St, Philadelphia, PA 19122 USA. 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Neuropsychol. PY 2011 VL 25 IS 6 BP 963 EP 988 DI 10.1080/13854046.2011.614779 PG 26 WC Psychology, Clinical; Clinical Neurology; Psychology SC Psychology; Neurosciences & Neurology GA 882JH UT WOS:000299559400005 PM 21955111 ER PT J AU Seyfer, DL Van Dyke, DC Wacker, DP McConkey, SA Cooper-Brown, L Bachmeyer, MH Kreiter, CD AF Seyfer, Daisha L. Van Dyke, Don C. Wacker, David P. McConkey, Stacy A. Cooper-Brown, Linda Bachmeyer, Melanie H. Kreiter, Clarence D. TI Observations in Psychotropic Medication Usage in Patients With Behavior Disorders Presenting to a Specialty Clinic SO CLINICAL PEDIATRICS LA English DT Article DE disruptive behavior disorder; behavior problems; pediatric medication use; psychotropic medication ID CHILDREN; ADOLESCENTS; RISPERIDONE; AUTISM; TRENDS; CARE AB In recent decades, national and international surveys have reported increased usage of psychotropic medications in children. A review of the computerized clinic records for 709 children seen in a behavioral specialty clinic from January 2001 to December 2007, inclusive, in a rural US state was completed. The number of children diagnosed with disruptive behavior disorder/behavior management issues increased over the 7-year period, but this was balanced by an increased number of referrals. The number of children referred over the 7-year period increased from 77 in 2001 to 127 in 2006, a 39% increase. The overall percentage of children on medications at time of first visit showed some variability, but it did not increase over the years 2001 to 2007. The results of this study suggest that the previously reported increase in psychotropic medication usage in pediatric patients is not consistent across all diagnostic categories or in all regions of the United States. C1 [Seyfer, Daisha L.; Van Dyke, Don C.; Wacker, David P.; McConkey, Stacy A.; Cooper-Brown, Linda; Bachmeyer, Melanie H.; Kreiter, Clarence D.] Univ Iowa Hosp & Clin, Iowa City, IA 52242 USA. RP Seyfer, DL (reprint author), Nationwide Childrens Hosp, Div Behav Hlth, 700 Childrens Dr, Columbus, OH 43205 USA. EM daisha.seyfer@nationwidechildrens.org FU National Institutes of Health [R01-HD29402]; National Library of Medicine; NIH/NLM [R01-LMM009121-02]; US DHHS/HRSA [5-T73 MC00016-13] FX This investigation was conducted as part of a research project supported by the National Institutes of Health, Child Health and Human Development Project #R01-HD29402 to DW. CK receives financial support from the National Library of Medicine, NIH/NLM R01-LMM009121-02 and US DHHS/HRSA 5-T73 MC00016-13. 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Pediatr. PD JAN PY 2011 VL 50 IS 1 BP 44 EP 49 DI 10.1177/0009922810379500 PG 6 WC Pediatrics SC Pediatrics GA 693CV UT WOS:000285203100007 PM 20837626 ER PT J AU Pae, CU Forbes, A Patkar, AA AF Pae, Chi-Un Forbes, Andy Patkar, Ashwin A. TI Aripiprazole as Adjunctive Therapy for Patients with Major Depressive Disorder Overview and Implications of Clinical Trial Data SO CNS DRUGS LA English DT Review ID SEROTONIN REUPTAKE INHIBITORS; STAR-ASTERISK-D; EXTENDED-RELEASE QUETIAPINE; PLACEBO-CONTROLLED TRIAL; DRUG-DRUG INTERACTIONS; TAIL SUSPENSION TEST; DOUBLE-BLIND; MODAFINIL AUGMENTATION; ATYPICAL FEATURES; OPEN-LABEL AB Aripiprazole was initially approved to treat schizophrenia and later approved for bipolar mania, as a monotherapy and an adjunctive therapy (manic or mixed episodes), and for irritability associated with autism. Aripiprazole is a partial agonist at dopamine D-2 and D-3 and serotonin 5-HT1A receptors, and is an antagonist at 5-HT2A receptors. This profile, and convincing preliminary data from small-scale studies, provided the rationale for the large-scale exploration of aripiprazole for unipolar depression. Recently, three 6-week, large-scale, randomized, double-blind, placebo-controlled clinical trials demonstrated clinically meaningful efficacy for aripiprazole as an adjunctive therapy to antidepressants for treating major depressive disorder (MDD). In November 2007, aripiprazole was approved by the US FDA as an adjunctive therapy to antidepressants for treating MDD, with support from two of the above-mentioned trials. In the trials, aripiprazole was demonstrated to be safe and well tolerated, and showed a minimal trend for weight gain over the course of a 6-week treatment. The incidence of akathisia was higher than that reported in studies of patients with schizophrenia; however, most cases were mild to moderate and infrequently lead to discontinuation (5/1090 from all three trials). This comprehensive review provides an overview of the data from all three 6-week studies (including a pooled analysis) and from an unpublished 52-week, open-label extension study, to inform physicians and facilitate reasonable treatment decisions. In addition, specific issues associated with the use of aripiprazole as an adjunctive therapy in patients with MDD, including possible early treatment effect, appropriate timing of therapy initiation, appropriate dosing and duration of treatment, possible differential effect on depressive subgroups and long-term tolerability, are also discussed. C1 [Pae, Chi-Un] Catholic Univ Korea, Coll Med, Bucheon St Marys Hosp, Dept Psychiat, Puchon 420717, Kyounggi Do, South Korea. [Pae, Chi-Un; Patkar, Ashwin A.] Duke Univ, Med Ctr, Dept Psychiat & Behav Sci, Durham, NC USA. [Forbes, Andy] Otsuka Pharmaceut Dev & Commercializat, Princeton, NJ USA. RP Pae, CU (reprint author), Catholic Univ Korea, Coll Med, Bucheon St Marys Hosp, Dept Psychiat, 2 Sosa Dong, Puchon 420717, Kyounggi Do, South Korea. EM pae@catholic.ac.kr FU Medical Research Center, Korea Science and Engineering Foundation, Republic of Korea [RI3-2002-005-04001-0]; GlaxoSmithKline Korea; GlaxoSmithKline; AstraZeneca Korea; Jansssen Pharmaceutcals Korea; Eli Lilly and Company Korea; Korea Science and Engineering Foundation; Korean Research Foundation; Otsuka Korea; Wyeth Korea; Korean Institute of Science and Technology Evaluation and Planning; National Institutes of Health; AstraZeneca; Bristol-Myers Squibb; Forest; Janssen; McNeil Consumer and Specialty Inc.; Organon; Jazz Pharmaceuticals; Pfizer FX This work was supported by a grant from the Medical Research Center, Korea Science and Engineering Foundation, Republic of Korea (R13-2002-005-04001-0). The authors did not receive any independent funding or payment from Otsuka Pharmaceuticals. Drs Pae and Patkar were involved in the commencement of the manuscript, data collection and review, and writing the draft and revised version of the manuscript. Dr Forbes reviewed the data accuracy and wrote specific parts of the manuscript (pharmacokinetics and pharmacodynamics).Dr Pae has received research grants from GlaxoSmithKline Korea, GlaxoSmithKline, AstraZeneca Korea, Jansssen Pharmaceutcals Korea, Eli Lilly and Company Korea, Korea Science and Engineering Foundation, Korean Research Foundation, Otsuka Korea, Wyeth Korea and Korean Institute of Science and Technology Evaluation and Planning; has received honoraria and/or is on the speaker's bureaux of GlaxoSmithKline Korea, GlaxoSmithKline Taiwan, Otsuka Taiwan, Lundbeck Korea, AstraZeneca Korea, Johnson & Johnson-Health Care Products & Pharmaceuticals, Janssen Pharmaceuticals Korea, Wyeth Korea, Abott Korea, Pfizer Korea, Eli Lilly and Company Korea, Norvatis Korea, McNeil Consumer and Specialty Inc., Otsuka Pharmaceutical Development & Commercialization and Otsuka Korea.Dr Patkar is a consultant for Bristol-Myers Squibb, GlaxoSmithKline and Reckitt Benckiser; is on the speaker's bureaux of Bristol-Myers Squibb, GlaxoSmithKline and Reckitt Benckiser; has received research support from National Institutes of Health, AstraZeneca, Bristol-Myers Squibb, Forest, GlaxoSmithKline, Janssen, McNeil Consumer and Specialty Inc., Organon, Jazz Pharmaceuticals and Pfizer. 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10.1016/j.neulet.2005.06.035 NR 104 TC 42 Z9 45 PU ADIS INT LTD PI AUCKLAND PA 41 CENTORIAN DR, PRIVATE BAG 65901, MAIRANGI BAY, AUCKLAND 1311, NEW ZEALAND SN 1172-7047 J9 CNS DRUGS JI CNS Drugs PY 2011 VL 25 IS 2 BP 109 EP 127 DI 10.2165/11538980-000000000-00000 PG 19 WC Clinical Neurology; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 724DS UT WOS:000287556900002 PM 21254788 ER PT J AU Mazzone, L Reale, L Mannino, V Cocuzza, M Vitiello, B AF Mazzone, Luigi Reale, Laura Mannino, Valeria Cocuzza, Mariadonatella Vitiello, Benedetto TI Lower IQ is Associated with Decreased Clinical Response to Atomoxetine in Children and Adolescents with Attention-Deficit Hyperactivity Disorder SO CNS DRUGS LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT/HYPERACTIVITY DISORDER; MENTAL-RETARDATION; PREFRONTAL CORTEX; METHYLPHENIDATE; SYMPTOMS; EFFICACY; DOPAMINE; VALIDITY; AUTISM AB Objectives: Atomoxetine is commonly used to treat attention-deficit hyperactivity disorder (ADHD) in children with a broad range of cognitive abilities. We examined the association between level of cognitive functioning as determined by IQ and clinical response during treatment with atomoxetine. Methods: The records of all the children and adolescents treated with atomoxetine at a university clinic in Catania, Italy, over a 3-year period were examined. A total of 55 clinically referred children and adolescents (aged 5-15 years, 53 males) with ADHD were treated with atomoxetine (10-110 mg/day; mean: 1.28 mg/kg/day) for a period ranging from 2 to 168 weeks (mean: 57.3 +/- SD 39.4, median: 56). The IQ was assessed as part of the diagnostic evaluation prior to starting treatment. During treatment, clinical outcome was rated on the Clinical Global Impression-Improvement (CGI-I) and CGI-Severity (CGI-S) scales. Results: The IQ ranged from 43 to 117 (mean: 80.6 +/- SD 18.6, median: 84). The IQ and final CGI-I scores were negatively correlated (r = -0.68; p < 0.01). Children and adolescents with an IQ <85 were less likely to be responders (defined as a final CGI-I score of 1 or 2) than children and adolescents with an IQ >= 85 (20.71% vs 76.9%; p < 0.001). None of the patients discontinued atomoxetine due to adverse effects, while treatment was discontinued in 20 subjects due to a lack of efficacy or ambivalence of parents about pharmacological treatment. Conclusions: Atomoxetine appears to be less effective in children and adolescents with an IQ <85 than in children and adolescents in the average range of cognitive functioning. This difference is not accounted for by differences in the severity of ADHD symptoms, co-morbidity or reduced tolerability to the medication. These findings suggest that, in order to be fully informative, clinical trials of medications for ADHD should also include children and adolescents functioning in the borderline and cognitive disability range. C1 [Mazzone, Luigi; Reale, Laura; Mannino, Valeria; Cocuzza, Mariadonatella] Univ Catania, Div Child Neurol & Psychiat, Dept Pediat, I-95100 Catania, Italy. [Vitiello, Benedetto] NIMH, Child & Adolescent Treatment & Prevent Intervent, Bethesda, MD 20892 USA. RP Mazzone, L (reprint author), Univ Catania, Div Child Neurol & Psychiat, Dept Pediat, Via S Sofia 78, I-95100 Catania, Italy. EM gigimazzone@yahoo.it FU Division of Child Neurology and Psychiatry of the University of Catania, Catania, Italy; Eli Lilly FX Luigi Mazzone and Laura Reale contributed equally to this work in terms of realization of the study, data analysis and paper writing. Valeria Mannino and Mariadonatella Cocuzza collected the data, and Benedetto Vitiello contributed to the design of the study, supervised statistical analysis and helped in the theoretical interpretation of the results. This study was funded by the Division of Child Neurology and Psychiatry of the University of Catania, Catania, Italy. Dr Mannino received educational travel funds by Eli Lilly. The other authors (LM, LR, BV) have no relevant financial disclosures. 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Sipes, Megan Fodstad, Jill C. Fitzgerald, Mary E. TI Issues in the Management of Challenging Behaviours of Adults with Autism Spectrum Disorder SO CNS DRUGS LA English DT Review ID PERVASIVE DEVELOPMENTAL DISORDERS; MENTAL-RETARDATION; DOUBLE-BLIND; INTELLECTUAL DISABILITY; QUANTITATIVE SYNTHESIS; ABERRANT BEHAVIOR; SELF-INJURY; CHILDREN; ADOLESCENTS; RISPERIDONE AB Autism spectrum disorder (ASD) is a particularly important risk factor for challenging behaviours such as aggression, tantrums, self-injury and pica. Adults with ASD have rarely been studied with respect to these problems. This is particularly disconcerting since there are far more adults than children with ASD. In addition, because of adults' increased physical size and longer history of these problems, treating these behaviours effectively is important. Psychological methods, particularly applied behaviour analysis, and pharmacotherapy have been the most frequently addressed treatments for challenging behaviours associated with ASD in the research literature. In many cases, challenging behaviours have clear environmental antecedents. In these cases, behavioural interventions, such as applied behaviour analysis, should be used to reduce the behaviours. When environmental factors cannot be identified or when challenging behaviours are very severe, pharmacological treatments may be necessary in combination with behavioural interventions. Newer antipsychotics are the most researched medications for use with this population. Currently, risperidone and aripiprazole are the only medications that have US FDA approval for the treatment of behaviours associated with ASD, specifically irritability; however, they are indicated for use in children not adults. It is important not to use medications unnecessarily, due to possible side effects associated with their use. Based on available research, some recommendations for the treatment of challenging behaviours of adults (and children) with ASD include the use of functional assessment, side-effect monitoring of medications and behavioural methods whenever possible. Additionally, future research in this area needs to focus more on adults, as most current research has used child samples. C1 [Matson, Johnny L.; Sipes, Megan; Fodstad, Jill C.; Fitzgerald, Mary E.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, 236 Audubon Hall, Baton Rouge, LA 70803 USA. 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Stahl, Stephen M. TI Treatment Strategies for Dosing the Second Generation Antipsychotics SO CNS NEUROSCIENCE & THERAPEUTICS LA English DT Article DE Atypical antipsychotics; Bipolar disorder; Depression; Schizophrenia; Second generation Antipsychotics ID MAJOR DEPRESSIVE DISORDER; EXTENDED-RELEASE QUETIAPINE; GENERALIZED ANXIETY DISORDER; PLACEBO-CONTROLLED TRIAL; SEROTONIN REUPTAKE INHIBITORS; STATE-HOSPITAL SYSTEM; DOUBLE-BLIND; ATYPICAL ANTIPSYCHOTICS; BIPOLAR DISORDER; OPEN-LABEL AB P>Background: The second generation antipsychotics now have clinical approvals for the treatment of schizophrenia, bipolar depression, bipolar mania, autism, major depressive disorder and are used furthermore off-label to treat other mental disorders. Each agent is unique in its pharmacodynamic profile and allows for unique dosing strategies to be employed when treating these different disorders. Aims: To review relevant data regarding the second generation antipsychotics and their empirical dosing strategies. To further review and comment theoretically in these areas where substantial, definitive data are lacking. Materials and Methods: A MEDLINE and recent textbook review was conducted regarding each second generation antipsychotic and cross-referenced with searches for major mental disorders. The findings are compiled in the review below. Discussion: The second generation antipsychotics are clearly delineated in the treatment of psychosis and mania and share similar mechanisms of action to achieve these results: dopamine-2 receptor antagonism for efficacy and serotonin-2a receptor antagonism for EPS tolerability. From here, each agent has a unique pharmacodynamic and pharmacokinetic profile where some agents carry more, or less antidepressant, anxiolyic, or hypnotic profiles. Choosing an agent, and dosing it in low, middle, or high ranges may result in differential effectiveness and tolerability. Conclusion: The second generation antipsychotics have many clinical applications in psychiatric practice. This article serves to review this and also suggests ways clinicians may optimize treatment based upon patient diagnosis and utilizing appropriate dosing of each individual second generation antipsychotic. C1 [Schwartz, Thomas L.] Univ New York Upstate Med Univ, Dept Psychiat State, Syracuse, NY USA. [Stahl, Stephen M.] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA. [Stahl, Stephen M.] Univ Cambridge, Dept Psychiat, Cambridge CB2 1TN, England. RP Schwartz, TL (reprint author), Univ New York Upstate Med Univ, Dept Psychiat State, 713 Harrison St, Syracuse, NY USA. EM schwartt@upstate.edu FU Astra Zeneca; Boehringer Ingelheim; Bristol Myers-Squibb; Cephalon; Dainippon; Eli Lilly; Forest; Lundbeck; Novartis; PamLabs; Pfizer; Pfizer Canada; Pharmasquire; Sanofi Aventis; Schering Plough; Shire; Wyeth; Cyberonics FX Thomas L. Schwartz, MD, is an associate professor of psychiatry at Upstate Medical University and has served as a Consultant to PamLab. He has served on speakers bureaus for Pfizer Inc; Wyeth Pharmaceuticals, AstraZeneca, and Merck pharmaceuticals and received research and/or grant support from Cephalon, Forest, Cyberonics.Stephen M. Stahl, MD, PhD, is an adjunct professor of psychiatry at the University of California, San Diego School of Medicine and an honorary visiting senior fellow at the University of Cambridge, UK and has served as a Consultant to Allergan, Astra Zeneca, BioMarin, BioVail, Boehringer Ingelheim, Bristol Myers-Squibb, Cenerex, Covance, Cypress Bioscience, Dianippon, Eisai, Eli Lilly, Forest, GlaxoSmith Kline, Labopharm, Lundbeck, Marinus, Meda Corp, Meiji, Merck, Novartis, Pfizer, Pfizer Canada, Pierre Fabre, PamLab, Prexa Pharmaceuticals, Propagate Pharma, Royalty Pharma, Sanofi, Schering Plough Corporation, Shire, SK Corporation, Soffinova, Solvay, Vanda and Wyeth. He has served on speakers bureaus for Pfizer Inc; Wyeth Pharmaceuticals and Schering Plough Corporation and has received research and/or grant support from Astra Zeneca, Boehringer Ingelheim, Bristol Myers-Squibb, Cephalon, Dainippon, Eli Lilly, Forest, Lundbeck, Novartis, PamLabs, Pfizer, Pfizer Canada, Pharmasquire, Sanofi Aventis, Schering Plough, Shire and Wyeth. 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Ther. PY 2011 VL 17 IS 2 BP 110 EP 117 DI 10.1111/j.1755-5949.2011.00234.x PG 8 WC Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA 735ZL UT WOS:000288459200006 PM 21401911 ER PT J AU Frauenberger, C Good, J Keay-Bright, W AF Frauenberger, Christopher Good, Judith Keay-Bright, Wendy TI Designing technology for children with special needs: bridging perspectives through participatory design SO CODESIGN-INTERNATIONAL JOURNAL OF COCREATION IN DESIGN AND THE ARTS LA English DT Article DE technologically enhanced learning environments; autism spectrum conditions; children AB This article presents and discusses co-creation techniques for involving children in the design of a technologically enhanced learning environment. The ECHOES project, which involves both typically developing children and children with autism spectrum conditions, aims to create an environment that scaffolds the development of children's social skills. The authors draw attention to the constraints and limitations of co-designing new technologies, which are by necessity interdisciplinary, and describe experiments with sensory interest and storytelling to bridge tensions between system design and the imaginary worlds of young children. Related work is reviewed, where children with special needs have been included in the design process, and a series of design activities implemented in ECHOES is described. Reflecting on these experiences, key themes are identified that may be of interest to practitioners and researchers who work with children in inclusive design contexts. These themes address the role of theory, the impact of technology, the support of creativity, the validity of inspiration and the design of non-digital generative tools to harness children's imagination. The article also includes a discussion on the ethical implications of co-designing with children and describes how the project evolved as a consequence of the work described. C1 [Frauenberger, Christopher; Good, Judith] Univ Sussex, Sch Informat, Brighton BN1 9RH, E Sussex, England. [Keay-Bright, Wendy] Univ Wales Inst, Cardiff Sch Art & Design, Dept Creat Commun, Cardiff, Wales. RP Frauenberger, C (reprint author), Univ Sussex, Sch Informat, Brighton BN1 9RH, E Sussex, England. EM c.frauenberger@sussex.ac.uk CR BREDERODE B, 2005, IDC 05, P32 Druin A, 2002, BEHAV INFORM TECHNOL, V21, P1, DOI [10.1080/01449290110108659, 10.1080/014492901101008659] DRUIN A, 1999, CHI 99, P326 Frauenberger C, 2010, P 11 PART DES C Gray C.A., 1998, ASPERGER SYNDROME HI, P167 Guha M., 2008, IDC 08, P61 Gutstein S. 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S., 2005, CoDesign, V1, DOI 10.1080/15710880500135987 WHALEY G, 2004, P 11 BIENN C INT SOC NR 25 TC 6 Z9 6 PU TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXON, ENGLAND SN 1571-0882 J9 CODESIGN JI CoDesign PY 2011 VL 7 IS 1 BP 1 EP 28 DI 10.1080/15710882.2011.587013 PG 28 WC Art SC Art GA 812LV UT WOS:000294295900001 ER PT J AU Begeer, S Banerjee, R Rieffe, C Terwogt, MM Potharst, E Stegge, H Koot, HM AF Begeer, Sander Banerjee, Robin Rieffe, Carolien Terwogt, Mark Meerum Potharst, Eva Stegge, Hedy Koot, Hans M. TI The understanding and self-reported use of emotional display rules in children with autism spectrum disorders SO COGNITION & EMOTION LA English DT Article DE Autism; Emotional display rules; Emotional development; Theory of Mind; Expression ID HIGH-FUNCTIONING CHILDREN; MIND; KNOWLEDGE; PRESCHOOL; BEHAVIOR AB Two studies examined the understanding and self-reported use of rules for the expressive display of emotions in children with high functioning autism spectrum disorders (HFASD) and in typically developing children. In Study 1, children from the two groups reported display rules equally often when presented with hypothetical situations that provided clear motives for using display rules, although emotion-masking displays were more commonly identified for vignettes with prosocial rather than self-protective motives. In Study 2, children were interviewed about display rule use in real life. Children with HFASD reported display rules less often, included more prototypical examples, and referred less often to prosocial motives than typically developing children. Children with HFASD appear to be aware of display rules, but are less adept at identifying the interpersonal functions of such rules than their typically developing peers. C1 [Begeer, Sander] Vrije Univ Amsterdam, Dept Dev Psychol, NL-1081 BT Amsterdam, Netherlands. [Banerjee, Robin] Univ Sussex, Brighton, E Sussex, England. [Rieffe, Carolien] Leiden Univ, Leiden, Netherlands. RP Begeer, S (reprint author), Vrije Univ Amsterdam, Dept Dev Psychol, Van der Boechorstst 1, NL-1081 BT Amsterdam, Netherlands. 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Emot. PY 2011 VL 25 IS 5 BP 947 EP 956 DI 10.1080/02699931.2010.516924 PG 10 WC Psychology, Experimental SC Psychology GA 882KO UT WOS:000299562700017 PM 21824032 ER PT J AU Dodig-Curkovic, K Curkovic, M Radic, J Radic, M AF Dodig-Curkovic, Katarina Curkovic, Mario Radic, Josipa Radic, Mislay TI The Treatment of Autistic Children with Risperidone SO COLLEGIUM ANTROPOLOGICUM LA English DT Article DE autism; risperidone; self-injurious behavior; social isolation ID ADOLESCENTS AB Autism is a pervasive developmental disorder characterised by impairment in social interaction and communication, with unusual behavior. In some cases the pharmacotherapy is prescribed and the most studied antipshychotic drugs include haloperidol and risperidone. In this paper we displayed the treatment of two cases of autism in boy and girl with risperidone. With the use of risperidone in girl, we have achieved reduction of psychomotor symptoms and reduction of hetero-aggressive and self-destructive behavior, and in boy we have also achieved reduction of psychomotoric symptoms, with improvement in contact with his surrounding, he had less learning problems and he has felt familiar not only with his mother, but with other persons. Research on the use of risperidone in the treatment of autistic disorders among children in Croatia are rare, given the limited use of risperidone in children younger than 15 years, the question arises about the need to expand the scope of application of risperidone in younger age groups. C1 [Dodig-Curkovic, Katarina] JJ Strossmayer Univ, Osijek Univ Hosp Ctr, Dept Child & Adolescent Psychiat, Osijek 31000, Croatia. [Curkovic, Mario] Hlth Ctr Osijek, Family Med Off, Osijek, Croatia. [Radic, Josipa; Radic, Mislay] Univ Split, Split Univ Hosp Ctr, Dept Internal Med, Split, Croatia. 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PD JAN PY 2011 VL 35 SU 1 BP 297 EP 301 PG 5 WC Anthropology SC Anthropology GA 755SK UT WOS:000289956500049 PM 21648351 ER PT J AU Sarac, H Henigsberg, N Markeljevic, J Pavlisa, G Hof, PR Simic, G AF Sarac, Helena Henigsberg, Neven Markeljevic, Jasenka Pavlisa, Goran Hof, Patric R. Simic, Goran TI Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and H-1-Mr Spectroscopy Correlates SO COLLEGIUM ANTROPOLOGICUM LA English DT Article DE FMR1 gene; fragile X premutation; tremor; cerebellar ataxia; cognitive impairment; genetics; MRI; H-1-MR spectroscopy ID MULTIPLE SYSTEM ATROPHY; TREMOR-ATAXIA SYNDROME; FMR1 PREMUTATION; FEMALE CARRIERS; PHENOTYPE; MALES; PARKINSONISM; CEREBELLAR; DIAGNOSIS; ALLELES AB It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family history of mental retardation and autism who presented clinically with action tremor, ataxia, emotional disturbances and cognitive dysfunction. Magnetic resonance imaging (MRI) of the brain showed diffuse cortical atrophy, while H-1-MR spectroscopy (MRS) revealed decreased levels of N-acetylaspartate (NAA) in the cerebellum, basal ganglia, and pons. Genetic testing confirmed heterozygous FMR 1 gene premutation of 100 CGG repeats in the abnormal allele and 29 CGG repeats in the normal allele. We concluded that FXTAS may be an under-recognized disorder, particularly in women. C1 [Sarac, Helena; Pavlisa, Goran] Univ Zagreb, Sch Med, Croatian Inst Brain Res, Diagnost Ctr Neuron,Dept Radiol, Zagreb 10000, Croatia. [Sarac, Helena] Univ Zagreb, Sch Med, Zagreb Univ Hosp Ctr, Dept Neurol, Zagreb 10000, Croatia. [Henigsberg, Neven] Univ Zagreb, Sch Med, Croatian Inst Brain Res, Dept Psychiat, Zagreb 10000, Croatia. 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Anthropol. PD JAN PY 2011 VL 35 SU 1 BP 327 EP 332 PG 6 WC Anthropology SC Anthropology GA 755SK UT WOS:000289956500054 PM 21648356 ER PT J AU Gentile, S AF Gentile, Salvatore TI Drug treatment for mood disorders in pregnancy SO CURRENT OPINION IN PSYCHIATRY LA English DT Article DE perinatal teratogenicity; pregnancy; psychotropics; structural teratogenicity ID SEROTONIN-REUPTAKE INHIBITORS; PERSISTENT PULMONARY-HYPERTENSION; LONG-TERM TREATMENT; IN-UTERO EXPOSURE; ANTIEPILEPTIC DRUGS; MATERNAL USE; CONGENITAL-MALFORMATIONS; ANTIDEPRESSANT EXPOSURE; GESTATIONAL EXPOSURE; MAJOR MALFORMATIONS AB Purpose of review During the last few years, several researches, often showing contradictory findings, have investigated the safety of psychotropic medications used for treating mood disorders in pregnancy. Hence, the necessity exists to update this information constantly in order to ensure the safest option for the mother-infant pair. Recent findings The risk of fetal anomalies associated with early in-utero exposure to antidepressants seems to be increased after paroxetine and clorimipramine exposure, whereas prenatal exposure to nearly all antidepressants is linked to the potential onset of the Prenatal Antidepressant Exposure Syndrome. As regards classic mood stabilizers, the teratogenic risk historically reported with lithium should probably be softened, whereas valproate is the medication which shows the strongest association with fetal anomalies. An increased risk of autism-spectrum disorders and infant neurodevelopmental delay is also associated with valproate exposure through the placenta. No significant reproductive safety data are available on atypical antipsychotics, although such medications may indirectly increase the rate of fetal malformation by inducing gestational diabetes. Summary Avoiding the use of clorimipramine, paroxetine, valproate, and atypical antipsychotics during pregnancy is advisable. However, when starting or continuing pharmacological treatment during pregnancy, clinicians should consider not only the intrinsic iatrogenic risk of birth defects or perinatal complications, but also the general safety profile for the expectant mother. Indeed, specific adverse reactions (such as nausea, vomiting, constipation, and excessive weight gain) may aggravate the classic clinical findings of pregnancy, thus indirectly facilitating the occurrence of pregnancy complications and fetal and neonatal problems. C1 [Gentile, Salvatore] ASL Salerno, Dept Mental Hlth, Salerno, Italy. RP Gentile, S (reprint author), Mental Hlth Ctr Cava de Tirreni, I-84013 Salerno, Italy. 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We report on the development of a small, prototype conversation simulation to teach conversational skills to adolescents and adults with ASD and average to superior intellectual abilities. We also report on a test of the feasibility and acceptability of the simulation approach with a sample of the target population. The simulation engages the user in a virtual conversation with an on-screen partner whose reactions provide naturalistic feedback geared to the appropriateness of the learner's response choices. The prototype simulation, which provides for up to 12 potentially unique multi-turn conversations, was used over a period of 2 weeks by 16 adolescents and adults who then rated statements about the system on a linear scale of 1 (disagreement) to 5 (high agreement). The participants highly endorsed the majority of positive statements about the quality and credibility of the interaction and the virtual conversation partner. In contrast, agreement with positive statements about instructional features external to the conversation was moderate. Unexpectedly, most participants strongly agreed that using the simulation had been helpful to them. Further development and testing in the context of a controlled study with randomized assignment to control and experimental groups are needed to determine whether this approach is effective in improving real-world pragmatic language behavior of high-functioning adults with ASD. C1 [Olsen, Dale E.; Boteler, Laura] SIMmersion LLC, Columbia, MD 21046 USA. [Trepagnier, Cheryl Y.; Bell, Corinne A.] Catholic Univ Amer, Washington, DC 20064 USA. RP Boteler, L (reprint author), SIMmersion LLC, 9861 Broken Land Pkwy,Suite 200, Columbia, MD 21046 USA. 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Vorstman, J. A. S. Ophoff, R. A. TI Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research SO CYTOGENETIC AND GENOME RESEARCH LA English DT Article DE Array-CGH; Autism; Diagnostic yield; Mental retardation; Neuropsychiatric disorder; Schizophrenia; SNP-array ID AUTISM SPECTRUM DISORDERS; MULTIPLE CONGENITAL-ANOMALIES; 22Q11.2 DELETION SYNDROME; SUBMICROSCOPIC CHROMOSOMAL-ABNORMALITIES; RARE STRUCTURAL VARIANTS; DEVELOPMENTAL DELAY; DE-NOVO; BIPOLAR-DISORDER; INTELLECTUAL DISABILITY; MICROARRAY ANALYSIS AB We review the contributions and limitations of genome-wide array-based identification of copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental retardation (MR) and other brain-related disorders. In unselected MR referrals a causative genomic gain or loss is detected in 14-18% of cases. Usually, such CNVs arise de novo, are not found in healthy subjects, and have a major impact on the phenotype by altering the dosage of multiple genes. This high diagnostic yield justifies array-based segmental aneuploidy screening as the initial genetic test in these patients. This also pertains to patients with autism (expected yield about 5-10% in nonsyndromic and 10-20% in syndromic patients) and schizophrenia (at least 5% yield). CNV studies in idiopathic generalized epilepsy, attention-deficit hyperactivity disorder, major depressive disorder and Tourette syndrome indicate that patients have, on average, a larger CNV burden as compared to controls. Collectively, the CNV studies suggest that a wide spectrum of disease-susceptibility variants exists, most of which are rare (<0.1%) and of variable and usually small effect. Notwithstanding, a rare CNV can have a major impact on the phenotype. Exome sequencing in MR and autism patients revealed de novo mutations in protein coding genes in 60 and 20% of cases, respectively. Therefore, it is likely that arrays will be supplanted by next-generation sequencing methods as the initial and perhaps ultimate diagnostic tool in patients with brain-related disorders, revealing both CNVs and mutations in a single test. Copyright (C) 2011 S. Karger AG, Basel C1 [Hochstenbach, R.] Univ Med Ctr Utrecht, Div Biomed Genet, Dept Med Genet, Rudolf Magnus Inst Neurosci, NL-3508 AB Utrecht, Netherlands. [Buizer-Voskamp, J. E.; Ophoff, R. A.] Univ Med Ctr Utrecht, Dept Psychiat, Rudolf Magnus Inst Neurosci, NL-3508 AB Utrecht, Netherlands. [Vorstman, J. A. S.] Univ Med Ctr Utrecht, Dept Child & Adolescent Psychiat, Rudolf Magnus Inst Neurosci, NL-3508 AB Utrecht, Netherlands. [Ophoff, R. A.] Univ Calif Los Angeles, Ctr Neurobehav Genet, Los Angeles, CA USA. 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Genome Res. PY 2011 VL 135 IS 3-4 BP 174 EP 202 DI 10.1159/000332928 PG 29 WC Cell Biology; Genetics & Heredity SC Cell Biology; Genetics & Heredity GA 864SS UT WOS:000298261000002 PM 22056632 ER PT J AU Poot, M van der Smagt, JJ Brilstra, EH Bourgeron, T AF Poot, M. van der Smagt, J. J. Brilstra, E. H. Bourgeron, T. TI Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia SO CYTOGENETIC AND GENOME RESEARCH LA English DT Article DE Autism; AUTS2; CNTNAP2; Copy number variations; Diagnostic fatalism; Epilepsy; Epistasis; GRIN2B; MCPH1; Schizophrenia ID COPY-NUMBER VARIATION; IDIOPATHIC GENERALIZED EPILEPSY; RARE CHROMOSOMAL DELETIONS; ORIGIN ALLELIC EXPRESSION; SPECTRUM DISORDERS; DE-NOVO; MENTAL-RETARDATION; RECURRENT MICRODELETIONS; OCULOCUTANEOUS ALBINISM; 15Q13.3 MICRODELETIONS AB Analyses of structural genome variation by array-CGH have dramatically enhanced our ability to detect copy number variations (CNVs). De novo CNVs and those co-segregating with disease in a family are generally interpreted as pathogenic. Yet, often CNVs, such as recurrent microdeletions in region 15q13.3, are not so clearly pathogenic. Here we discuss potential confounding mechanisms that may lead to the phenotypic pleiotropy of CNVs, such as unmasking of recessive alleles by hemizygous deletions, interaction of CNVs with other loci and genes, genetic epistasis, allelic exclusion, and somatic mosaicism. We illustrate some of these mechanisms with a detailed analysis of recent studies of CNVs involving MCPH1, AUTS2, CNTNAP2, and mutations in GRIN2B. Next we discuss the clinical ramifications of these findings and urge workers to avoid 'diagnostic fatalism' (i.e., halting all genetic investigation after the detection of a single CNV) and address some of the future challenges likely to result from implementations of next generation sequencing techniques. Copyright (C) 2011 S. Karger AG, Basel C1 [Poot, M.; van der Smagt, J. J.; Brilstra, E. H.] Univ Med Ctr Utrecht, Dept Med Genet, NL-3584 Utrecht, Netherlands. [Bourgeron, T.] Inst Pasteur, Dept Human Genet & Cognit Funct, Paris, France. RP Poot, M (reprint author), Univ Med Ctr Utrecht, Dept Med Genet, Heidelberglaan 100, NL-3584 Utrecht, Netherlands. EM m.poot@umcutrecht.nl RI Poot, Martin/F-9427-2010 FU Dutch Foundation for Brain Research (Hersenstichting) [2008(1).34]; Pasteur Institute; INSERM; APHP; ANR; Orange; FRM; RTRS Sante Mentale (Foundation FondaMental) FX We acknowledge support for the autism-related research of M. Poot by the Dutch Foundation for Brain Research (Hersenstichting) grant #2008(1).34 and of T. Bourgeron by the Pasteur Institute, INSERM, APHP, ANR, Orange, FRM, and the RTRS Sante Mentale (Foundation FondaMental). We wish to thank Drs. Lauren S. Jenkins and Kamer Tezcan of Kaiser Permanente San Jose Medical Center (San Jose, CA, USA) and Dr. Heather C. Mefford of the Department of Pediatrics, Division of Genetic Medicine, University of Washington (Seattle, WA, USA) for kindly sharing information regarding their patients. 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Genome Res. PY 2011 VL 135 IS 3-4 BP 228 EP 240 DI 10.1159/000334064 PG 13 WC Cell Biology; Genetics & Heredity SC Cell Biology; Genetics & Heredity GA 864SS UT WOS:000298261000006 PM 22085975 ER PT J AU Goldberg, MC Spinelli, S Joel, S Pekar, JJ Denckla, MB Mostofsky, SH AF Goldberg, Melissa C. Spinelli, Simona Joel, Suresh Pekar, James J. Denckla, Martha B. Mostofsky, Stewart H. TI Children with high functioning autism show increased prefrontal and temporal cortex activity during error monitoring SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE LA English DT Article DE Error; Response monitoring; Autism; Children; fMRI AB Evidence exists for deficits in error monitoring in autism. These deficits may be particularly important because they may contribute to excessive perseveration and repetitive behavior in autism. We examined the neural correlates of error monitoring using functional magnetic resonance imaging (fMRI) in 8-12-year-old children with high functioning autism (HFA, n = 11) and typically developing children (TD, n = 15) during performance of a Go/No-Go task by comparing the neural correlates of commission errors versus correct response inhibition trials. Compared to TD children, children with HFA showed increased BOLD fMRI signal in the anterior medial prefrontal cortex (amPFC) and the left superior temporal gyrus (STempG) during commission error (versus correct inhibition) trials. A follow-up region-of-interest analysis also showed increased BOLD signal in the right insula in HFA compared to TD controls. Our findings of increased amPFC and STempG activity in HFA, together with the increased activity in the insula, suggest a greater attention towards the internally driven emotional state associated with making an error in children with HFA. Since error monitoring occurs across different cognitive tasks throughout daily life, an increased emotional reaction to errors may have important consequences for early learning processes. (C) 2010 Elsevier Ltd. All rights reserved. C1 [Goldberg, Melissa C.; Spinelli, Simona; Joel, Suresh; Pekar, James J.; Denckla, Martha B.; Mostofsky, Stewart H.] Kennedy Krieger Inst, Baltimore, MD 21205 USA. [Goldberg, Melissa C.; Spinelli, Simona; Joel, Suresh; Pekar, James J.; Denckla, Martha B.; Mostofsky, Stewart H.] Johns Hopkins Univ, Sch Med, Baltimore, MD USA. RP Goldberg, MC (reprint author), Kennedy Krieger Inst, 707 North Broadway, Baltimore, MD 21205 USA. EM goldbergm@kennedykrieger.org; spinellisimona@gmail.com FU National Institute of Health [K01 MH01824, R01NS048527, K02 NS044850]; Developmental Disabilities Research Center [HD-24061]; Johns Hopkins General Clinical Research Center [GCRC M01 RR00052]; Johns Hopkins University School of Medicine Institute for Clinical and Translational Research; NIH/NCRR CTSA Program [UL1-RR025005] FX This work was supported by the National Institute of Health grants: K01 MH01824 (MCG), R01NS048527 (SHM), K02 NS044850 (SHM), the Developmental Disabilities Research Center (HD-24061), the Johns Hopkins General Clinical Research Center (GCRC M01 RR00052), Johns Hopkins University School of Medicine Institute for Clinical and Translational Research, and the NIH/NCRR CTSA Program (UL1-RR025005). 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However, there are characteristics of ASD that overlap with other types of developmental delay (DD), which may complicate differential diagnosis in young children. A review of the literature was conducted to identify the most promising behavioral markers that distinguish ASD from other types of DD in the first 2 years of life. The review identified profiles of behavioral markers in the social realm by 12 months and in the communication realm by 18 months, which along with additional atypical motor behaviors could distinguish ASD from DD. This constellation of features coupled with a flat or declining trajectory in specific aspects of social and communication development, may assist clinicians in targeting early interventions to at-risk infants. (C) 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:130-140. C1 [Mitchell, Shelley] Univ Toronto, Dept Speech Language Pathol, Toronto, ON M5S 1A1, Canada. 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Disabil. Res. Rev. PY 2011 VL 17 IS 2 SI SI BP 130 EP 140 DI 10.1002/ddrr.1107 PG 11 WC Clinical Neurology; Neurosciences; Pediatrics; Psychiatry SC Neurosciences & Neurology; Pediatrics; Psychiatry GA V27PG UT WOS:000208624500008 PM 23362032 ER PT J AU Rescorla, L AF Rescorla, Leslie TI LATE TALKERS: DO GOOD PREDICTORS OF OUTCOME EXIST? SO DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS LA English DT Review DE late talkers; outcomes; predictors AB Both small-scale and epidemiological longitudinal studies of early language delay indicate that most late talkers attain language scores in the average range by age 5, 6, or 7. However, late talker groups typically obtain significantly lower scores than groups with typical language histories on most language measures into adolescence. These findings support a dimensional account of language delay, whereby late talkers and typically developing peers differ quantitatively on a hypothetical language ability spectrum. Variation in language ability is presumed to derive from variation in skills subserving language, such as auditory perception/processing, word retrieval, verbal working memory, motor planning, phonological discrimination, and grammatical rule learning. Expressive language screening at 18-35 months can serve an important public health function by identifying children whose expressive delay. is secondary to autism spectrum disorder, intellectual disability, hearing impairment, receptive language delay, or demographic risk. Finally, the review suggests that demographic risk associated with low SES may become more important as a causal factor in language delay as children get older. (C) 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011; 17:141-150. C1 [Rescorla, Leslie] Bryn Mawr Coll, Dept Psychol, Bryn Mawr, PA 19010 USA. RP Rescorla, L (reprint author), Bryn Mawr Coll, 101 N Mer Ave, Bryn Mawr, PA 19010 USA. 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Tager-Flusberg, Helen TI IDENTIFYING EARLY-RISK MARKERS AND DEVELOPMENTAL TRAJECTORIES FOR LANGUAGE IMPAIRMENT IN NEURODEVELOPMENTAL DISORDERS SO DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS LA English DT Review DE language delay; language impairment/disability; neurodevelopmental disability; specific language impairment; autism spectrum disorders AB The effective identification of neurodevelopmental disorders is essential for early diagnosis and provision of intervention services. For many of these conditions, one of the primary domains of abnormality is language development. This review addresses what is known about the earliest indicators of language impairment across a range of neurodevelopmental disorders; consideration is given to both behavioral and neural markers, as well as patterns of change over time. A summary of the current state of the field, including challenges in research, is presented. The earliest features of the language phenotype in Down syndrome, Williams syndrome, Fragile X, specific language impairment (SLI), and autism spectrum disorder (ASD) are described, along with recent findings in the early neural markers of language impairment in SLI and ASD. (C) 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2011;17:151-159. C1 [Luyster, Rhiannon J.] Emerson Coll, Dept Commun Sci & Disorders, Boston, MA 02116 USA. [Luyster, Rhiannon J.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA. [Seery, Anne; Talbott, Meagan R.; Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Boston, MA 02215 USA. RP Tager-Flusberg, H (reprint author), Boston Univ, Dept Psychol, 64 Cummington St, Boston, MA 02215 USA. EM htagerf@bu.edu CR Adamson L. 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Disabil. Res. Rev. PY 2011 VL 17 IS 2 SI SI BP 151 EP 159 DI 10.1002/ddrr.1109 PG 9 WC Clinical Neurology; Neurosciences; Pediatrics; Psychiatry SC Neurosciences & Neurology; Pediatrics; Psychiatry GA V27PG UT WOS:000208624500010 PM 23362034 ER PT J AU Sigurdardottir, S Vik, T AF Sigurdardottir, Solveig Vik, Torstein TI Speech, expressive language, and verbal cognition of preschool children with cerebral palsy in Iceland SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID BRAIN INJURY; AUTISM; COMMUNICATION; DISORDERS; SPECTRUM; DEFICITS AB Aim The aim of this study was to describe speech, expressive language, and verbal cognition of children with cerebral palsy (CP). Method A population study included 152 Icelandic children with congenital CP (74 males, 78 females; mean age 5y 5mo, range 4y-6y 6mo). Children who spoke in sentences, phrases, or one-word utterances were categorized as verbal. Speech was classified as normal, mild dysarthria, or severe dysarthria. Cognition was reported as IQ (Wechsler Preschool and Primary Scale of Intelligence - Revised) or developmental quotient (DQ). Results Most children (81%) had spastic CP and bilateral symptoms (76%); 74 (49%) were at Gross Motor Function Classification System (GMFCS) level I, 27% at levels II and III, and 24% at levels IV and V (p < 0.001). One hundred and twenty-eight children (84%) communicated verbally whereas 24 were nonverbal. Nonverbal status and severe dysarthria were associated with greater motor impairment (GMFCS; p < 0.001). Twenty-five children (16%) had severe dysarthria. Most (88%) of the nonverbal children had multiple disabilities compared with 18% of the verbal group (p < 0.001). Median (interquartile range) verbal IQ was 93 (73-104) and performance IQ 77 (61-94; p < 0.001). Sixty-eight children (45%) had normal verbal cognition and almost a quarter of the children with severe dysarthria had a full-scale IQ/DQ of 70. Interpretation Most children with CP express sentences and almost half of them have normal verbal IQ. Nonverbal status frequently indicates multiple impairments whereas severe dysarthria may be associated with normal cognition. C1 [Sigurdardottir, Solveig] State Diagnost & Counselling Ctr, IS-200 Kopavogur, Iceland. [Sigurdardottir, Solveig; Vik, Torstein] Norwegian Univ Sci & Technol, Dept Lab Med, N-7034 Trondheim, Norway. [Vik, Torstein] St Olavs Univ Hosp, Dept Paediat, Trondheim, Norway. RP Sigurdardottir, S (reprint author), State Diagnost & Counselling Ctr, Digranesvegur 5, IS-200 Kopavogur, Iceland. EM solveig@greining.is FU Liaison Committee for the Central Norway Regional Health Authority; Norwegian University of Science and Technology FX This study was supported by the Liaison Committee for the Central Norway Regional Health Authority and the Norwegian University of Science and Technology. 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PD JAN PY 2011 VL 53 IS 1 BP 74 EP 80 DI 10.1111/j.1469-8749.2010.03790.x PG 7 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 688YD UT WOS:000284891900017 PM 21039439 ER PT J AU van Agt, H Verhoeven, L van den Brink, G de Koning, H AF van Agt, Heleen Verhoeven, Ludo van den Brink, Gertrude de Koning, Harry TI The impact on socio-emotional development and quality of life of language impairment in 8-year-old children SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID CLUSTER-RANDOMIZED TRIAL; BEHAVIORAL-PROBLEMS; SELF-ESTEEM; DISORDERS; TODDLERS; OUTCOMES; SPEECH; AGE; DIFFICULTIES; STABILITY AB Aim To estimate the impact of different types of language disorders on socio-emotional development and health-related quality of life (HRQOL) in 8-year-old children. Method In a prospective cohort including 13 427 newborns, of 10 911 eligible children (66 excluded because of intellectual disability or foreign language, 2448 lost to follow-up due to house moves, refusal, death or other reasons) written consent was obtained from the parents of 6051 then 8-year-old children (55%). Questionnaires, completed by the parents of 4745 children (2323 males, 2412 females) and the teachers of 4771 children (2360 males, 2411 females), included validated measures to define type of language disorder and to assess socio-emotional development and HRQOL. Results In 377 (8.2%) children, speech/language disorders were identified. Children with receptive language disorders had more unfavourable scores for extraversion (9.7, 99% CI 9.3-10.1, p=0.006), school attitude (7.8, 99% CI 7.4-8.2; p < 0.001), agreeableness (9.1, 99% CI 8.6-9.6, p < 0.001; normal ranges 7-13), and quality of life (49.6, 99% CI 48.8-51.0, p < 0.001; normal range 40-60), as compared to children without these disorders. Pragmatic disorders and suspected autism were associated with the most unfavourable scores, for school attitude 8.1 (99% CI 6.9-9.3, p < 0.001) and 7.5 (99% CI 6.1-8.9, p=0.002), and for quality of life 42.9 (99% CI 40.3-45.5, p < 0.001) and 36.2 (99% CI 30.0-42.4, p < 0.001). Interpretation Language impairment at school age has a large impact on children's behaviour and daily life. C1 [van Agt, Heleen; de Koning, Harry] Erasmus MC, Dept Publ Hlth, NL-3000 CA Rotterdam, Netherlands. [Verhoeven, Ludo] Radboud Univ Nijmegen, Inst Behav Sci, Nijmegen, Netherlands. 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Med. Child Neurol. PD JAN PY 2011 VL 53 IS 1 BP 81 EP 88 DI 10.1111/j.1469-8749.2010.03794.x PG 8 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 688YD UT WOS:000284891900018 PM 20875040 ER PT J AU Hileman, CM Henderson, H Mundy, P Newell, L Jaime, M AF Hileman, Camilla M. Henderson, Heather Mundy, Peter Newell, Lisa Jaime, Mark TI Developmental and Individual Differences on the P1 and N170 ERP Components in Children With and Without Autism SO DEVELOPMENTAL NEUROPSYCHOLOGY LA English DT Article ID EVENT-RELATED POTENTIALS; ASPERGER-SYNDROME; FACIAL EXPRESSIONS; FACE-INVERSION; RECOGNITION PROCESSES; OBJECT RECOGNITION; SPECTRUM DISORDER; BRAIN POTENTIALS; SOCIAL-BEHAVIOR; ADULTS AB The P1 and N170 components, two event-related potentials sensitive to face processing, were examined in response to faces and vehicles for children with autism and typical development. P1 amplitude decreased, P1 latency decreased, and N170 amplitude became more negative with age. Children with typical development had larger P1 amplitudes for inverted faces than upright faces, but children with autism did not show this pattern. Children with autism had longer N170 latencies than children with typical development. Smaller P1 amplitudes and more negative N170 amplitudes for upright faces were associated with better social skills for children with typical development. C1 [Hileman, Camilla M.; Mundy, Peter] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA. [Henderson, Heather; Jaime, Mark] Univ Miami, Dept Psychol, Coral Gables, FL 33146 USA. [Newell, Lisa] Indiana Univ Penn, Dept Psychol, Indiana, PA USA. RP Hileman, CM (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA. EM camillam@live.com; h.henderson@miami.edu FU Institute of Education Sciences (IES), U.S. Department of Education [DED-R305C050052]; National Institute of Mental Health (NIMH) [R01 MH71273]; IES FX This research was supported by the Institute of Education Sciences (IES), U.S. Department of Education, through Grant DED-R305C050052 to the University of Miami. The opinions expressed are those of the authors and do not represent views of the U. S. Department of Education. This research was also supported by the National Institute of Mental Health (NIMH), through Grant R01 MH71273 (Henderson & Mundy, co-PIs). The authors wish to thank IES and NIMH for their funding support. In addition, the authors acknowledge Jeff Brosco, Drew Coman, Bridget Gamber, Annie Inge, Nicole Kojkowski, Maria Llabre, Adam McMahon, Leena Mohapatra, Crystal Noller, Agu Rossetti, Caley Schwartz, and Nicole Zahka for their respective contributions to the preparation of this article. 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Neuropsychol. PY 2011 VL 36 IS 2 BP 214 EP 236 DI 10.1080/87565641.2010.549870 PG 23 WC Psychology, Developmental; Psychology; Psychology, Experimental SC Psychology GA 726GV UT WOS:000287709000005 PM 21347922 ER PT J AU Kozlowski, AM Matson, JL Horovitz, M Worley, JA Neal, D AF Kozlowski, Alison M. Matson, Johnny L. Horovitz, Max Worley, Julie A. Neal, Daniene TI Parents' first concerns of their child's development in toddlers with autism spectrum disorders SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE ASD; developmental delays; age of first concern; communication; BISCUIT ID EARLY INTERVENTION; YOUNG-CHILDREN; DIAGNOSIS AB Objective: Investigations about first concerns among parents of toddlers with ASD and comparisons of the same with children diagnosed with other developmental disorders are scarce. Method: The current study utilized a sample of toddlers diagnosed with an ASD or other developmental delay and examined the nature of parents' first concern and the age of first concern compared to the age of first assessment. Results: The majority of parents of both toddlers diagnosed with ASD and non-ASD related developmental delays indicated that the area of first concern was in communication. However, the age of first concern was significantly younger for toddlers with an ASD diagnosis. In addition, there was a significant positive correlation between the age at which concerns were first noted and the age at which assessment was sought. Conclusion: The implications of these findings are discussed as they relate to early assessment and intervention. C1 [Kozlowski, Alison M.; Matson, Johnny L.; Horovitz, Max; Worley, Julie A.; Neal, Daniene] Louisiana State Univ, Baton Rouge, LA 70816 USA. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. 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Neurorehabil. PY 2011 VL 14 IS 2 BP 72 EP 78 DI 10.3109/17518423.2010.539193 PG 7 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 736OF UT WOS:000288503300002 PM 21410398 ER PT J AU Horovitz, M Matson, JL Sipes, M AF Horovitz, Max Matson, Johnny L. Sipes, Megan TI Gender differences in symptoms of comorbidity in toddlers with ASD using the BISCUIT-Part 2 SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE gender; autism; comorbidity; BISCUIT; infants ID PERVASIVE DEVELOPMENTAL DISORDERS; AUTISM-SPECTRUM DISORDERS; SEX-DIFFERENCES; DEPRESSIVE SYMPTOMS; MODIFIED CHECKLIST; LIFE-SPAN; RELIABILITY; CHILDREN AB Objective: Examine if gender differences exist with respect to comorbid symptoms in young children with Autistic Disorder (AD), Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) and atypical controls. Design: A factorial MANOVA was conducted for the main analysis and follow-up post-hocs were conducted where significant differences were found. Methods: The Baby and Infant Screen for Children with aUtIsm Traits, Part 2 was administered to caregivers of 438 young children. Results: The MANOVA was significant, F(10, 858) = 19.38, p < 0.001, Pillai's Trace = 0.37. No gender differences were found; however, diagnostic groups differed significantly on symptoms with AD exhibiting more symptoms than PDD-NOS, followed by atypical controls. No interaction between gender and diagnosis was found. Conclusions: Those with AD exhibited greater comorbid symptoms which is consistent with previous research. Current finding also support previous literature which state that gender differences are evident only during certain periods in the lifespan. C1 [Matson, Johnny L.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. 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Neal, Daniene Sipes, Megan TI Effects of symptoms of co-morbid psychopathology on challenging behaviours among infants and toddlers with Autistic Disorder and PDD-NOS as assessed with the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE co-morbidity; challenging behaviours; ASD; psychopathology ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PSYCHIATRIC-DISORDERS; YOUNG-CHILDREN; SLEEP PROBLEMS; POPULATION; PREVALENCE; HYPERACTIVITY; INTERVENTIONS; DISABILITIES AB Purpose: To examine whether level of symptoms of co-morbid psychopathology exacerbated challenging behaviours in young children with autism spectrum disorders (ASD). Method: Using the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT)--Part 2 which measures co-morbid symptoms and the BISCUIT- Part 3 which examines challenging behaviours, 362 infants and toddlers with ASD were evaluated. Results: Findings showed that participants scoring high on symptoms of Avoidance and Tantrum/Conduct problems had greater rates of aggressive/destructive behaviours, self-injurious behaviours (SIB) and stereotypies compared to those with low scores. Participants with high levels of Inattention/Impulsivity or Eat/Sleep concerns, compared to those with low levels, demonstrated greater aggressive/destructive behaviour and stereotypies. For symptoms of Anxiety/Repetitive Behaviours, participants with high scores displayed greater levels of stereotypies. Conclusions: Symptoms of co-morbid psychopathology are present at a very early age for children with ASD and elevated levels of these symptoms may exacerbate challenging behaviours. C1 [Matson, Johnny L.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. 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TI The effects of hearing impairment on symptoms of autism in toddlers SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE ASD; autism; hearing impairment; pressure equalizer tubes; symptoms; toddlers ID SPECTRUM DISORDERS; INFANT SCREEN; MODIFIED CHECKLIST; PDD-NOS; CHILDREN; DEAF; COMMUNICATION; DIAGNOSIS; TRAITS; SKILLS AB Objective: Individuals diagnosed with certain medical conditions, such as those with hearing loss or impairment, may present with symptoms that mimic those of Autism Spectrum Disorders (ASD). Therefore, the aim of this study was to investigate how hearing-compromised toddlers would score relative to toddlers diagnosed with an ASD on a measure of autism symptomatology. Methods: The Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) was utilized to compare toddlers diagnosed with an ASD or who had hearing problems. Results: The BISCUIT was effective in differentiating between children with ASD and those with hearing problems. However, atypically developing toddlers scored significantly lower than those with compromised hearing within the communication domain. Conclusion: Communication impairment, albeit lower than in toddlers with ASD, is present in toddlers with compromised hearing. As such, this factor should be taken into account when assessing for ASD in toddlers with hearing loss or impairment. C1 [Worley, Julie A.; Matson, Johnny L.; Kozlowski, Alison M.] Louisiana State Univ, Baton Rouge, LA 70816 USA. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. EM johnmatson@aol.com CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Ben Itzchak E, 2011, RES AUTISM SPECT DIS, V5, P345, DOI 10.1016/j.rasd.2010.04.018 Cederlund M, 2010, RES DEV DISABIL, V31, P287, DOI 10.1016/j.ridd.2009.09.006 Charman T, 2001, J AUTISM DEV DISORD, V31, P145, DOI 10.1023/A:1010790813639 Chess S., 1972, PSYCHIAT DISORDERS C Cotugno AJ, 2009, J AUTISM DEV DISORD, V39, P1268, DOI 10.1007/s10803-009-0741-4 Fodstad JC, 2009, DEV NEUROREHABIL, V12, P152, DOI 10.1080/17518420902936748 Fombonne E., 2004, BMC PUBLIC HEALTH, V4, P4 Gillberg C, 2010, RES DEV DISABIL, V31, P1543, DOI 10.1016/j.ridd.2010.06.002 HOEMANN HW, 1972, CHILD DEV, V43, P990, DOI 10.1111/j.1467-8624.1972.tb02052.x Horovitz M, 2010, DEV NEUROREHABIL, V13, P390, DOI 10.3109/17518423.2010.501431 JURE R, 1991, DEV MED CHILD NEUROL, V33, P1062 KOZLOWSKI AM, DEV NEURORE IN PRESS Leung C, 2010, RES DEV DISABIL, V31, P1358, DOI 10.1016/j.ridd.2010.07.004 Matson J. 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Neurorehabil. PY 2011 VL 14 IS 3 BP 171 EP 176 DI 10.3109/17518423.2011.564600 PG 6 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 761MW UT WOS:000290403100006 PM 21548858 ER PT J AU Lancioni, GE Singh, NN O'Reilly, MF Alberti, G Scigliuzzo, F Oliva, D AF Lancioni, Giulio E. Singh, Nirbhay N. O'Reilly, Mark F. Alberti, Gloria Scigliuzzo, Francesca Oliva, Doretta TI Promoting mouth drying to reduce the effects of drooling in a woman with multiple disabilities: A new evaluation of microswitch-programme conditions SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE drooling; microswitch technology; mouth drying; multiple disabilities ID SOCIAL VALIDATION; CEREBRAL-PALSY; CHILDREN; MANAGEMENT; TECHNOLOGY; PARENTS; AUTISM AB Objective: Extending the use of microswitch-based programmes to (a) establish mouth-drying responses and reduce the effects of drooling, (b) assess the possibility of widening inter-response intervals and (c) determine whether different microswitch solutions would impact the accuracy/effectiveness of mouth drying. Method: During the intervention phases of the study, the participant (woman) performed mouth-drying responses via a special napkin. Such napkin contained two pressure sensors/microswitches, a microprocessor and an MP3 serving to monitor responses and ensure stimulation contingent on them. Results: The participant (a) learned to dry her mouth and reduce her chin wetness, (b) stabilized her responding at lower frequencies (i.e. when the stimulation period was extended) and (c) produced more accurate/effective responses when she was required to trigger both sensors of the napkin. Conclusion: Microswitch-based programmes may promote practically sustainable and effective mouth drying to reduce drooling effects in persons with multiple disabilities. C1 [Lancioni, Giulio E.] Univ Bari, Dept Psychol, I-70100 Bari, Italy. [Singh, Nirbhay N.] ONE Res Inst, Midlothian, VA USA. [O'Reilly, Mark F.] Univ Texas Austin, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA. [Alberti, Gloria; Scigliuzzo, Francesca; Oliva, Doretta] Lega F DOro Res Ctr, Lesmo, Italy. 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Sipes, Megan TI The relationship between race and challenging behaviours in infants and toddlers with autistic disorder and pervasive developmental disorder-not otherwise specified SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE ethnicity; race; BISCUIT; ASD ID YOUNG-CHILDREN; SPECTRUM DISORDERS; INTELLECTUAL DISABILITIES; FUNCTIONAL-ANALYSIS; ASPERGERS SYNDROME; RISK-FACTORS; PDD-NOS; DIAGNOSIS; INTERVENTIONS; PSYCHOPATHOLOGY AB Objective: To examine the contributions of race and diagnostic category to endorsement rates of challenging behaviours in infants and toddlers with autism, PDD-NOS and atypical development without ASD, using the Baby and Infant Screen for Children with aUtIsm Traits, Part-3 (BISCUIT Part-3). Design: Multivariate analyses of variance (MANOVAs) on each sub-scale of the BISCUIT Part-3. Follow-up univariate analyses and post-hoc tests as needed. Methods: Scores on the BISCUIT Part-3 were compared for 453 Caucasian and 409 African-American infants and toddlers, grouped by race and diagnosis. Results: Significant differences between races were found on five out of 10 aggressive behaviours, while no significant differences were found on self-injurious or stereotypic behaviours. Significant differences between diagnostic groups were found on all behaviours. Conclusion: Cultural factors should be taken into account when examining challenging behaviours in infants and toddlers with ASD. C1 [Horovitz, Max; Matson, Johnny L.; Rieske, Robert D.; Kozlowski, Alison M.; Sipes, Megan] Louisiana State Univ, Baton Rouge, LA 70816 USA. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. EM johnmatson@aol.com CR Achenbach T, 2000, CHILD BEHAV CHECKLIS American Psychiatric Association, 2000, DIAGN STAT MAN MENT Baghdadli A, 2003, J INTELL DISABIL RES, V47, P622, DOI 10.1046/j.1365-2788.2003.00507.x Bernier R, 2010, CHILD ADOL PSYCH CL, V19, P855, DOI 10.1016/j.chc.2010.07.005 Bodfish JW, 2000, J AUTISM DEV DISORD, V30, P237, DOI 10.1023/A:1005596502855 Carr JE, 2009, RES DEV DISABIL, V30, P44, DOI 10.1016/j.ridd.2008.03.002 Cederlund M, 2010, RES DEV DISABIL, V31, P287, DOI 10.1016/j.ridd.2009.09.006 CHUNG KM, CROSS CULTURAL UNPUB Conroy MA, 2005, TOP EARLY CHILD SPEC, V25, P157, DOI 10.1177/02711214050250030301 Daley Tamara C, 2002, TRANSCULT PSYCHIATRY, V39, P531, DOI [10.1177/136346150203900409, DOI 10.1177/136346150203900409] Dominick KC, 2007, RES DEV DISABIL, V28, P145, DOI 10.1016/j.ridd.2006.02.003 Dyches TT, 2004, J AUTISM DEV DISORD, V34, P211, DOI 10.1023/B:JADD.0000022611.80478.73 Eikeseth S, 2009, RES DEV DISABIL, V30, P158, DOI 10.1016/j.ridd.2008.02.003 Embregts PJCM, 2009, RES DEV DISABIL, V30, P682, DOI 10.1016/j.ridd.2008.04.007 Epstein JN, 1998, J ABNORM CHILD PSYCH, V26, P109, DOI 10.1023/A:1022617821422 Fabio RA, 2009, RES DEV DISABIL, V30, P136, DOI 10.1016/j.ridd.2008.01.003 Hartley SL, 2008, J INTELL DISABIL RES, V52, P819, DOI 10.1111/j.1365-2788.2008.01065.x Horner RH, 2002, J AUTISM DEV DISORD, V32, P423, DOI 10.1023/A:1020593922901 Kogan MD, 2009, PEDIATRICS, V124, P1395, DOI 10.1542/peds.2009-1522 KOZLOWSKI AM, EXAMINATION CH UNPUB Lancioni GE, 2009, RES DEV DISABIL, V30, P20, DOI [10.1016/j.ridd.2008.02.002, 10.1016/j.ridd.2009.03.004] Leech L., 2008, SPSS INTRO STAT USE Luiselli JK, 2000, J BEHAV THER EXP PSY, V31, P219, DOI 10.1016/S0005-7916(01)00007-6 Luong J, 2009, J SCH NURS, V25, P222, DOI 10.1177/1059840509334365 Macken J., 2009, J MENTAL HLTH RES IN, V2, P29 Mandell DS, 2009, AM J PUBLIC HEALTH, V99, P493, DOI 10.2105/AJPH.2007.131243 Mandell DS, 2002, J AM ACAD CHILD PSY, V41, P1447, DOI 10.1097/01.CHI.0000024863.60748.53 Matson J. 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Neurorehabil. PY 2011 VL 14 IS 4 BP 208 EP 214 DI 10.3109/17518423.2011.566596 PG 7 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 790EC UT WOS:000292570300003 PM 21732805 ER PT J AU Zachor, D Yang, JW Ben Itzchak, E Furniss, F Pegg, E Matson, JL Horovitz, M Sipes, M Chung, KM Jung, W AF Zachor, Ditza Yang, Jae-won Ben Itzchak, Esther Furniss, Frederick Pegg, Elinor Matson, Johnny L. Horovitz, Max Sipes, Megan Chung, Kyong-Mee Jung, Woohyun TI Cross-cultural differences in comorbid symptoms of children with autism spectrum disorders: An international examination between Israel, South Korea, the United Kingdom and the United States of America SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE ethnicity; culture; comorbidity; ASD; ASD-CC ID INTELLECTUAL DISABILITY; ASD-CC; PSYCHOPATHOLOGY; RELIABILITY; ADOLESCENTS; POPULATION; PREVALENCE AB Objective: To examine the relationship between culture and symptoms of comorbid psychopathology in those with autism spectrum disorders (ASD). Design: Multivariate analyses of variance (MANOVAs) for each country and each sub-scale of the Autism Spectrum Disorders-Comorbid for Children (ASD-CC). Follow-up independent univariate analyses and post-hoc tests as needed. Methods: Separate samples from South Korea, the UK and Israel were compared to a sample from the US in order to examine cultural contributions, using the ASD-CC. Results: Overall, few differences were found. Significantly, the US had significantly higher scores than South Korea on the avoidant sub-scale. Additionally, the US had significantly higher scores than Israel on the over-eating and tantrum sub-scales. No significant differences were found between the US and the UK. Conclusion: Cultural factors, such as views of typical behaviour, should be taken into account when examining symptoms of comorbidity in children with ASD. C1 [Matson, Johnny L.; Horovitz, Max; Sipes, Megan] Louisiana State Univ, Baton Rouge, LA 70816 USA. [Zachor, Ditza] Tel Aviv Univ, Assaf Harofeh Med Ctr, IL-69978 Tel Aviv, Israel. [Yang, Jae-won] Kyungil Univ, Gyeongsangbuk Do, South Korea. [Ben Itzchak, Esther] Ariel Univ Ctr, Dept Commun Disorders, Ariel, Israel. [Furniss, Frederick; Pegg, Elinor] Hesley Grp, Leicester, Leics, England. [Furniss, Frederick] Univ Leicester, Leicester, Leics, England. [Chung, Kyong-Mee] Yonsei Univ, Seoul 120749, South Korea. [Jung, Woohyun] Chungbuk Natl Univ, Cheongju, South Korea. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. 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Neurorehabil. PY 2011 VL 14 IS 4 BP 215 EP 220 DI 10.3109/17518423.2011.568468 PG 6 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 790EC UT WOS:000292570300004 PM 21513465 ER PT J AU Hattier, MA Matson, JL Belva, BC Horovitz, M AF Hattier, Megan A. Matson, Johnny L. Belva, Brian C. Horovitz, Max TI The occurrence of challenging behaviours in children with autism spectrum disorders and atypical development SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE autism spectrum disorders; BISCUIT; challenging behaviours ID FUNCTIONAL ASSESSMENT; ABERRANT BEHAVIOR; YOUNG-CHILDREN; DISABILITIES; INDIVIDUALS; EQUIVALENTS; CHECKLIST AB Objective: This study examines the occurrence of challenging behaviours in children with ASDs and atypical development. Design: This study is a descriptive non-experimental design that inspects the frequencies of challenging behaviours among two diagnostic groups. This type of methodology is important since research in this area is still in the beginning stages of development. Methods: The sample consisted of 2131 children, with 633 having an ASD and 1498 having atypical development. The Baby and Infant Screen for Children with aUtIsm Traits-Part 3 (BISCUIT-Part 3) assesses problematic behaviours within this population. The frequencies of challenging behaviours were examined along with an inspection of the co-occurring items. Results: Greater percentages of problematic behaviours were found in the ASD group as compared to the group with atypical development. Conclusion: Challenging behaviours are variables affecting the behavioural presentation of those with ASDs and may be considered into the treatment plans for these children. C1 [Hattier, Megan A.; Matson, Johnny L.; Belva, Brian C.; Horovitz, Max] Louisiana State Univ, Baton Rouge, LA 70816 USA. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. 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L., 2008, RES AUTISM SPECT DIS, V3, P336 Matson JL, 2010, RES AUTISM SPECT DIS, V4, P400, DOI 10.1016/j.rasd.2009.10.010 Matson JL, 2009, RES DEV DISABIL, V30, P1203, DOI 10.1016/j.ridd.2009.04.001 Niklasson L, 2009, RES DEV DISABIL, V30, P763, DOI 10.1016/j.ridd.2008.10.007 Paclawskyj TR, 2000, RES DEV DISABIL, V21, P223, DOI 10.1016/S0891-4222(00)00036-6 Rojahn J, 2010, J DEV PHYS DISABIL, V22, P313, DOI 10.1007/s10882-010-9208-y Rojahn J, 2001, J AUTISM DEV DISORD, V31, P577, DOI 10.1023/A:1013299028321 Rojahn J, 2008, ASSESS TREAT CHILD P, V2, P1 Smith KRM, 2010, RES DEV DISABIL, V31, P1366, DOI 10.1016/j.ridd.2010.07.002 Strachan R, 2009, RES DEV DISABIL, V30, P1095, DOI 10.1016/j.ridd.2009.03.005 Sturmey P, 2010, RES DEV DISABIL, V31, P1002, DOI 10.1016/j.ridd.2010.04.018 Sturmey P, 2010, RES DEV DISABIL, V31, P1008, DOI 10.1016/j.ridd.2010.04.017 NR 37 TC 8 Z9 8 PU INFORMA HEALTHCARE PI LONDON PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND SN 1751-8423 J9 DEV NEUROREHABIL JI Dev. Neurorehabil. PY 2011 VL 14 IS 4 BP 221 EP 229 DI 10.3109/17518423.2011.573836 PG 9 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 790EC UT WOS:000292570300005 PM 21732806 ER PT J AU Fragala-Pinkham, MA Haley, SM O'Neil, ME AF Fragala-Pinkham, Maria A. Haley, Stephen M. O'Neil, Margaret E. TI Group swimming and aquatic exercise programme for children with autism spectrum disorders: A pilot study SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE aquatic exercise; adapted exercise; swimming; autism; Asperger syndrome; high functioning autism ID PHYSICAL-ACTIVITY; SECONDARY CONDITIONS; MENTAL-RETARDATION; CEREBRAL-PALSY; DISABILITIES; ADOLESCENTS; YOUTH; FITNESS; RESPONSIVENESS; PREVENTION AB Objective: To evaluate the effectiveness of a 14-week aquatic exercise programme for children with autism spectrum disorders (ASD). Design: Non-randomized control trial. Methods: Twelve children participated in this pilot study with seven participants in the aquatic exercise group and five in the control group. The programme was held twice per week for 40 minutes per session. Swimming skills, cardiorespiratory endurance, muscular endurance, mobility skills and participant and parent satisfaction were measured before and after the intervention. Results: No significant between-group changes were found. Within-group improvements for swimming skills were found for the intervention group. Programme attendance was high. Parents and children were very satisfied with the programme activities and instructors. Conclusions: This pilot programme was feasible and showed potential for improving swimming ability in children with ASD. Exercise intensity was low for some participants, most likely contributing to a lack of significant findings on fitness outcomes. C1 [Fragala-Pinkham, Maria A.] Franciscan Hosp Children, Res Ctr Children Special Hlth Care Needs, Boston, MA 02135 USA. [Haley, Stephen M.] Boston Univ, Sch Publ Hlth, Hlth & Disabil Res Inst, Boston, MA USA. [O'Neil, Margaret E.] Drexel Univ, Coll Nursing & Hlth Profess, Dept Phys Therapy & Rehabil Sci, Philadelphia, PA 19104 USA. RP Fragala-Pinkham, MA (reprint author), Franciscan Hosp Children, Res Ctr Children Special Hlth Care Needs, Boston, MA 02135 USA. EM mfragala@fhfc.org FU Thoracic Foundation; John W. Alden Trust; Innovating Worthy Projects Foundation FX We would like to thank the children who participated in this study and their parents. We would like to thank Christine Peters for assistance with manuscript preparation. This study was funded by the Thoracic Foundation, John W. Alden Trust and Innovating Worthy Projects Foundation. 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P., 1999, BROCKPORT PHYS FITNE Winnick J. P., 2005, ADAPTED PHYS ED SPOR Yilmaz I, 2004, PEDIATR INT, V46, P624, DOI 10.1111/j.1442-200x.2004.01938.x Yilmaz I, 2005, EDUC TRAIN DEV DISAB, V40, P171 NR 43 TC 2 Z9 3 PU INFORMA HEALTHCARE PI LONDON PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND SN 1751-8423 J9 DEV NEUROREHABIL JI Dev. Neurorehabil. PY 2011 VL 14 IS 4 BP 230 EP 241 DI 10.3109/17518423.2011.575438 PG 12 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 790EC UT WOS:000292570300006 PM 21732807 ER PT J AU Sipes, M Rojahn, J Turygin, N Matson, JL Tureck, K AF Sipes, Megan Rojahn, Johannes Turygin, Nicole Matson, Johnny L. Tureck, Kimberly TI Comparison of problem behaviours in atypically developing infants and toddlers as assessed with the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE Problem behaviours; atypically developing; BISCUIT ID ENTERING EARLY INTERVENTION; CHALLENGING BEHAVIORS; INTELLECTUAL DISABILITIES; MENTAL-RETARDATION; DEVELOPMENTAL-DISABILITIES; SPECTRUM DISORDERS; PREVALENCE; ADULTS; QABF; INDIVIDUALS AB Objective: Compares infants and toddlers with intellectual and developmental conditions in regard to the presence of challenging behaviour. Methods: Parents and caregivers to 140 children ranging from 17-35 months with five different conditions (Down syndrome (n = 23), developmental delay (n = 18), prematurity (n = 56), Cerebral Palsy (n 15) and Seizure disorder (n = 28)) were administered the BISCUIT-Part 3. An ANOVA on overall scores and a MANOVA on the sub-scale scores were conducted to determine if groups differed significantly. Results: Results found no significant differences on total scores or differences on the sub-scales of the BISCUIT-Part 3: Aggressive/Destructive, Stereotypic and Self-Injurious. Some trends in individual item endorsement were found. Conclusions: It is possible that differences among individuals with these disorders are not apparent until later in life. These results emphasize the importance of monitoring challenging behaviours in all at-risk infants and toddlers to ensure that early interventions to treat these challenging behaviours are possible. C1 [Sipes, Megan; Turygin, Nicole; Matson, Johnny L.; Tureck, Kimberly] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. [Rojahn, Johannes] George Mason Univ, Dept Psychol, Fairfax, VA 22030 USA. RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. 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Neurorehabil. PY 2011 VL 14 IS 5 BP 261 EP 266 DI 10.3109/17518423.2011.577050 PG 6 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 827XY UT WOS:000295464800001 PM 21810015 ER PT J AU Sipes, M Matson, JL Horovitz, M AF Sipes, Megan Matson, Johnny L. Horovitz, Max TI Autism spectrum disorders and motor skills: The effect on socialization as measured by the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE ASD; autism; motor skills; socialization; BISCUIT ID PERVASIVE DEVELOPMENTAL DISORDER; INTELLECTUAL DISABILITY; ASPERGER SYNDROME; MODIFIED CHECKLIST; PDD-NOS; IMPAIRMENT; COMMUNICATION; TODDLERS; DEFICITS; ADULTS AB Purpose: To examine the effects of ASD diagnosis and motor skills on socialization in young children. Methods: Two samples were used: gross motor skills sample (n = 408) and fine motor skills sample (n = 402). The Battelle Developmental Inventory-Second Edition assessed motor skills, while the Baby and Infant Screen for Children with aUtIsm Traits, Part 1 assessed socialization. Results: A main effect of diagnosis was found for both samples on socialization such that those with autism exhibited the most severe deficits followed by those with PDD-NOS and then atypically developing children. There was a main effect for gross motor skills, with high gross motor skills showing less social impairment. The interaction term was only significant in regards to fine motor skills. Conclusions: The individual effects of ASD diagnosis and motor impairment as well as the interaction have implications for the assessment and treatment in these individuals. C1 [Sipes, Megan; Matson, Johnny L.; Horovitz, Max] Louisiana State Univ, Baton Rouge, LA 70816 USA. RP Matson, JL (reprint author), Louisiana State Univ, 3333 Woodlandridge Blvd, Baton Rouge, LA 70816 USA. 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Neurorehabil. PY 2011 VL 14 IS 5 BP 290 EP 296 DI 10.3109/17518423.2011.587838 PG 7 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 827XY UT WOS:000295464800005 PM 21870953 ER PT J AU Palmen, A Didden, R Korzilius, H AF Palmen, Annemiek Didden, Robert Korzilius, Hubert TI An outpatient group training programme for improving leisure lifestyle in high-functioning young adults with ASD: A pilot study SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE Autism spectrum disorder; high-functioning adolescents; leisure; recreation; outpatient ID QUALITY-OF-LIFE; AUTISM; CHILDREN; DISABILITIES; ADOLESCENTS; SKILLS AB Objective: This study examined the effectiveness of an outpatient programme on the leisure lifestyle of high-functioning young adults living at home or at an independent setting. Methods: A pre-test-post-test control group design was used. Participants (n = 12) completed self-reports on (a) need for leisure support, (b) leisure engagement and (c) satisfaction with leisure lifestyle. The programme consisted of cognitive-behavioural techniques. Results: Significant within-group changes for the experimental group (n = 7) were found, indicating decreases in 'need for leisure support', more regular leisure engagement patterns and an increase in 'leisure-satisfaction' following the programme. Between-group statistics reveal medium and large effect sizes for decreases in need for leisure support and a medium effect size for increase in 'leisure-satisfaction', all in favour of the experimental group. Results regarding 'leisure engagement' were less clear. Conclusion: The preliminary programme was effective in improving leisure lifestyle and suggestions for future research are discussed. C1 [Palmen, Annemiek] Radboud Univ Nijmegen, Dept Special Educ, NL-6500 HE Nijmegen, Netherlands. [Palmen, Annemiek] Dr Leo Kannerhuis, Doorwerth, Netherlands. [Didden, Robert] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands. [Didden, Robert] Trajectum, Zutphen, Netherlands. [Korzilius, Hubert] Radboud Univ Nijmegen, Inst Management Res, NL-6500 HE Nijmegen, Netherlands. RP Palmen, A (reprint author), Radboud Univ Nijmegen, Dept Special Educ, POB 9104,Montessorilaan 3, NL-6500 HE Nijmegen, Netherlands. EM a.palmen@pwo.ru.nl FU Local Government of the province of Gelderland, The Netherlands FX This study was funded by Local Government of the province of Gelderland, The Netherlands. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. 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Turygin, Nicole TI The use of the Battelle Developmental Inventory-Second Edition (BDI-2) as an early screener for autism spectrum disorders SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE Autism screener; ASD; BISCUIT; BDI-2; developmental quotient ID INTELLECTUALLY DISABLED ADULTS; MODIFIED CHECKLIST; COMMUNICATIVE DEVELOPMENT; PRESCHOOL-CHILDREN; INFANT SCREEN; ASD-DA; TODDLERS; PSYCHOPATHOLOGY; IDENTIFICATION; DISABILITY AB Purpose: The purpose was to develop cut-off scores for a measure of developmental level (Battelle Developmental Inventory-Second Edition; BDI-2) which could be used as a screening tool to differentiate young children with possible autism spectrum disorders (ASD). Methods: Infants and toddlers with ASD (n = 604) and atypically-developing infants and toddlers (n = 1064) were administered the BDI-2. Cut-off scores were determined based on standard deviations from the mean of the ASD group. 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Neurorehabil. PY 2011 VL 14 IS 5 BP 310 EP 314 DI 10.3109/17518423.2011.598477 PG 5 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 827XY UT WOS:000295464800007 PM 21870955 ER PT J AU Rayner, C AF Rayner, Christopher TI Sibling and adult video modelling to teach a student with autism: Imitation skills and intervention suitability SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE Autism; video modelling; sibling; imitation ID SPECTRUM DISORDERS; CHILDREN; SELF AB Purpose: To investigate the effectiveness of adult-as-model and sibling-as-model video modelling procedures for an individual with autism who demonstrated limited imitation skills. Methods: This study assessed the imitation ability of Matthew, a 15 year-old boy with autism, and then used video modelling, with his sibling and an adult as models, in order to teach him to match coins, respond to questions in a group discussion time and prepare a snack of noodles. Results: Matthew seldom responded to imitative opportunities in the assessment. Also, minimal changes in his ability to perform the target behaviours resulted from either of the video modelling conditions. Conclusion: An individual's imitation skills are an important pre-requisite for successful video modelling intervention. C1 Univ Tasmania, Fac Educ, Hobart, Tas 7001, Australia. RP Rayner, C (reprint author), Univ Tasmania, Fac Educ, Private Bag 66, Hobart, Tas 7001, Australia. EM csrayner@utas.edu.au CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Apple AL, 2005, J POSIT BEHAV INTERV, V7, P33, DOI 10.1177/10983007050070010401 Bellini S, 2007, EXCEPT CHILDREN, V73, P264 Campbell D. 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PY 2011 VL 14 IS 6 BP 331 EP 338 DI 10.3109/17518423.2011.603369 PG 8 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 855UC UT WOS:000297589600001 PM 21950313 ER PT J AU Rayner, C AF Rayner, Christopher TI Teaching students with autism to tie a shoelace knot using video prompting and backward chaining SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE Autism; daily living skills; video; backward chaining; sibling model; peer model ID DAILY LIVING SKILLS; CHILDREN; INTERVENTION; ADULTS; SELF AB Purpose: To evaluate the effects of video prompting and backward chaining for teaching students with autism to tie a shoelace knot. Method: Videos featuring an adult and a peer or sibling model were used as part of the video prompting procedures to teach three boys with autism to tie a shoelace knot. A backward chaining procedure involving live modelling and verbal instruction was introduced following the video prompting phases. Results: Although the video prompting interventions increased the number of steps in the shoelace tying task completed by each of the participants, the backward chaining procedure was more effective, enabling one participant to reach mastery and a second participant to approach mastery. Conclusion: Practitioners should consider the pre-requisite skills of the participants and the nature of the target behaviour when selecting an intervention to teach daily living skills to individuals with autism. C1 Univ Tasmania, Fac Educ, Hobart, Tas 7001, Australia. RP Rayner, C (reprint author), Univ Tasmania, Fac Educ, Private Bag 66, Hobart, Tas 7001, Australia. 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TI Investigating the validity of a structured interview protocol for assessing the preferences of children with autism spectrum disorders SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE Validity; preference assessment; autism spectrum disorder ID PROFOUND MENTAL-RETARDATION; STIMULUS PREFERENCE; CHOICE ASSESSMENT; DISABILITIES; INDIVIDUALS; REINFORCERS; ASSESSMENTS; STUDENTS AB Purpose: To investigate the congruent validity of a structured interview protocol for assessing the preferences of seven children with autism spectrum disorder (ASD). Method: Using the structured interview protocol described by Green et al., parents were asked to provide a rank ordering of their child's preferred foods, drinks, toys and sensory stimuli. The resulting rank order was then compared to the results of a multiple-stimulus without replacement preference assessment by calculating the Spearman rank order correlation coefficients. Results: The results revealed a high level of correspondence between the rank orderings of both assessments for four of the six participants for food and drink items and four of the seven participants for play items and sensory stimuli. Conclusion: Results support the use of the structured interview protocol to determine the preferences of children with ASD. Practical implications and directions for future research are discussed. C1 [Didden, Robert] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands. [van der Meer, Larah; Achmadi, Donna; Kagohara, Deborah; Green, Vanessa A.] Victoria Univ Wellington, Wellington, New Zealand. [Lang, Russell] Texas State Univ San Marcos, Clin Autism Res Evaluat & Support, San Marcos, TX USA. [Lang, Russell] Univ Texas Austin, Meadows Ctr Prevent Educ Risk, Austin, TX 78712 USA. [Lancioni, Giulio E.] Univ Bari, I-70121 Bari, Italy. 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Neurorehabil. PY 2011 VL 14 IS 6 BP 366 EP 371 DI 10.3109/17518423.2011.606509 PG 6 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 855UC UT WOS:000297589600006 PM 21958010 ER PT J AU Horovitz, M Matson, JL Sipes, M AF Horovitz, Max Matson, Johnny L. Sipes, Megan TI The relationship between parents' first concerns and symptoms of autism spectrum disorders SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Article DE Autism; ASD; BISCUIT; first concerns; toddlers ID PERVASIVE DEVELOPMENTAL DISORDERS; YOUNG-CHILDREN; PDD-NOS; MENTAL-RETARDATION; MODIFIED CHECKLIST; SOCIAL-SKILLS; INFANT SCREEN; INTERVENTION; TODDLERS; BEHAVIOR AB Objective: To examine the relationship between parents' first concerns and early Autism Spectrum Disorder (ASD) symptoms. Methods: Symptoms of ASD were compared in 1393 toddlers with and without a diagnosis of an ASD, based on the area of parents' first concerns. Communication and behaviour problems were examined in the current study, as they are the most frequently reported first concerns in the literature. A series of one-way, between-subjects ANOVAs were conducted on each sub-scale of the BISCUIT Part-1. Results: Symptoms of Autism Spectrum Disorders (ASD) significant differences were found between most groups on all sub-scales. On the Socialization/Non-verbal Communication and Repetitive Behaviour/Restricted Interest sub-scales, those with ASD and behaviour concerns had the highest scores. On the Communication sub-scale, those with ASD and communication concerns had the highest scores. Conclusions: A significant relationship exists between early ASD symptoms and area of first concern. The implications of these results are discussed. C1 [Matson, Johnny L.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. 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Neurorehabil. PY 2011 VL 14 IS 6 BP 372 EP 377 DI 10.3109/17518423.2011.617322 PG 6 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 855UC UT WOS:000297589600007 PM 22136121 ER PT J AU Rispoli, M Neely, L Lang, R Ganz, J AF Rispoli, Mandy Neely, Leslie Lang, Russell Ganz, Jennifer TI Training paraprofessionals to implement interventions for people autism spectrum disorders: A systematic review SO DEVELOPMENTAL NEUROREHABILITATION LA English DT Review DE Paraprofessional; teacher assistant; autism spectrum disorder; paraprofessional training ID DISABILITIES; STUDENTS; STAFF; STRATEGIES; SETTINGS; TEACHERS; CHILDREN; SUPPORT; SKILLS AB Objective: This review summarizes studies in which paraprofessionals were trained to implement interventions for people with autism spectrum disorders (ASD) in school and rehabilitation settings. Methods: Systematic searches identified 12 studies meeting inclusion criteria. These studies were evaluated in terms of: (a) participant characteristics, (b) intervention implemented, (c) training procedures, (d) outcomes and (e) certainty of evidence. Results: Across the 12 studies intervention was provided to a total of 39 paraprofessionals including teacher aides and rehabilitation staff. Paraprofessionals were trained to implement: social stories, prompting, Picture Exchange Communication System (PECS), Discrete Trial Training (DTT), Pivotal Response Training (PRT), incidental teaching or activity schedules. Training procedures included written and verbal explanations, modelling, video demonstrations, role playing and feedback. Positive outcomes were reported in 92% of the included studies. Conclusion: Although the literature base is limited, this review highlights promising training procedures and areas in need of further research. C1 [Rispoli, Mandy; Neely, Leslie; Ganz, Jennifer] Texas A&M Univ, College Stn, TX 77843 USA. [Rispoli, Mandy; Ganz, Jennifer] Univ Texas Austin, Ctr Disabil & Dev, Austin, TX 78712 USA. [Rispoli, Mandy; Lang, Russell] Univ Texas Austin, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA. [Lang, Russell] Texas State Univ San Marcos, Clin Autism Res Evaluat & Support, San Marcos, TX USA. RP Rispoli, M (reprint author), Texas A&M Univ, 4225 TAMU, College Stn, TX 77843 USA. 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PY 2011 VL 14 IS 6 BP 378 EP 388 DI 10.3109/17518423.2011.620577 PG 11 WC Clinical Neurology; Pediatrics; Rehabilitation SC Neurosciences & Neurology; Pediatrics; Rehabilitation GA 855UC UT WOS:000297589600008 PM 22136122 ER PT J AU Hammock, EAD Levitt, P AF Hammock, Elizabeth A. D. Levitt, Pat TI Developmental Expression Mapping of a Gene Implicated in Multiple Neurodevelopmental Disorders, A2bp1 (Fox1) SO DEVELOPMENTAL NEUROSCIENCE LA English DT Article DE C57BL6J mouse; Embryonic forebrain; Neurodevelopment; mRNA splicing regulation; Gene expression; GABA; Interneurons; Thalamus; Neocortex ID CANDIDATE-GENE; ASSOCIATION; PROTEIN; IDENTIFICATION; AUTISM AB The neuronal transcription splicing factor, A2BP1, has been implicated in a variety of neurodevelopmental disorders; however, the role of A2BP1 in brain development and gene regulatory function remains to be explicated. Here, we map A2bp1 gene expression, focusing on the developing fore-brain of the C57BL6J mouse. Early in forebrain development, A2bp1 expression is highly reminiscent of the expression of genes marking postmitotic GABAergic cells emanating from the ventral telencephalon during migration to the dorsal pallium. Ventral pallial expression remains low after the migratory period. Broader dorsal pallial expression becomes more evident late prenatally and early postnatally. This is paralleled by dense, restricted expression in the ventrobasal dorsal thalamic complex and mid-hypothalamic region. Outside of the forebrain, there is significant expression in motor pathways. These data indicate that A2BP1 mutations may clinically affect very selective forebrain neuron types from early periods of development. Copyright (C) 2011 S. Karger AG, Basel C1 [Hammock, Elizabeth A. D.] Vanderbilt Univ, Vanderbilt Univ Sch Med, Dept Pediat, Nashville, TN 37232 USA. [Hammock, Elizabeth A. D.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37232 USA. [Levitt, Pat] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Dept Cell & Neurobiol, Los Angeles, CA 90033 USA. RP Hammock, EAD (reprint author), Vanderbilt Univ, Vanderbilt Univ Sch Med, Dept Pediat, 2215 Garland Ave,Light Hall,Rm 1115, Nashville, TN 37232 USA. EM liz.hammock@vanderbilt.edu RI Hammock, Elizabeth/G-1897-2011 FU NIH [HD015052]; Vanderbilt University [T32 MH065215]; Vanderbilt Kennedy Center [NIH T32 MH075883] FX We would like to acknowledge the technical support of Eric Yetter, Christine Svitek, Frank Liu and Deborah Gregory. We would especially like to acknowledge Phil Ebert, PhD, for facilitating the implementation of the high throughput in situ hybridization protocols and Joseph Roland, PhD, in Vanderbilt University's Epithelial Biology Center Imaging Resource Core for expert help with high throughput image acquisition. We also acknowledge funding from the Vanderbilt Kennedy Center P30 grant from the NIH (HD015052), Vanderbilt University Program in Neurogenomics (NIH T32 MH065215) and Vanderbilt Kennedy Center Biobehavioral Interventions Training Program (NIH T32 MH075883). We are grateful for the helpful advice of the anonymous reviewers. 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Neurosci. PY 2011 VL 33 IS 1 BP 64 EP 74 DI 10.1159/000323732 PG 11 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 746YN UT WOS:000289286900007 PM 21346316 ER PT J AU Tranfaglia, MR AF Tranfaglia, Michael R. TI The Psychiatric Presentation of Fragile X: Evolution of the Diagnosis and Treatment of the Psychiatric Comorbidities of Fragile X Syndrome SO DEVELOPMENTAL NEUROSCIENCE LA English DT Review DE Psychopharmacology; Pathophysiology; Behavior; Phenotype; Autism spectrum disorders; Disease mechanisms ID MENTAL-RETARDATION PROTEIN; PERVASIVE DEVELOPMENTAL DISORDERS; AUTISM SPECTRUM DISORDERS; MOUSE MODEL; DOUBLE-BLIND; PSYCHOLOGICAL PROFILE; BEHAVIORAL-PHENOTYPE; SWEDISH MULTICENTER; INFANTILE-AUTISM; CONTROLLED-TRIAL AB Fragile X syndrome (FXS) is the leading inherited cause of mental retardation and autism spectrum disorders worldwide. It presents with a distinct behavioral phenotype which overlaps significantly with that of autism. Unlike autism and most common psychiatric disorders, the neurobiology of fragile X is relatively well understood. Lack of the fragile X mental retardation protein causes dysregulation of synaptically driven protein synthesis, which in turn causes global disruption of synaptic plasticity. Thus, FXS can be considered a disorder of synaptic plasticity, and a developmental disorder in the purest sense: mutation of the FMR1 (fragile X mental retardation 1) gene results in abnormal synaptic development in response to experience. Accumulation of this abnormal synaptic development, over time, leads to a characteristic and surprisingly consistent behavioral phenotype of attention deficit, hyperactivity, impulsivity, multiple anxiety symptoms, repetitive/perseverative/stereotypic behaviors, unstable affect, aggression, and self-injurious behavior. Many features of the behavioral and psychiatric phenotype of FXS follow a developmental course, waxing and waning over the life span. 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Neurosci. PY 2011 VL 33 IS 5 BP 337 EP 348 DI 10.1159/000329421 PG 12 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 857VU UT WOS:000297752000001 PM 21893938 ER PT J AU Paluszkiewicz, SM Martin, BS Huntsman, MM AF Paluszkiewicz, Scott M. Martin, Brandon S. Huntsman, Molly M. TI Fragile X Syndrome: The GABAergic System and Circuit Dysfunction SO DEVELOPMENTAL NEUROSCIENCE LA English DT Review DE Inhibition; Fragile X mental retardation protein; Synapse; Developmental disorder; Autism spectrum disorders; Cerebral cortex; Amygdala ID MENTAL-RETARDATION PROTEIN; GABA(A) RECEPTOR SUBUNIT; FMR1 KNOCKOUT MICE; HIPPOCAMPAL PYRAMIDAL CELLS; RAT BASOLATERAL AMYGDALA; SHORT-TERM TREATMENT; BARREL FIELD CORTEX; FAST-SPIKING CELLS; MOUSE MODEL; INHIBITORY CIRCUITS AB Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by intellectual disability, sensory hypersensitivity, and high incidences of autism spectrum disorders and epilepsy. These phenotypes are suggestive of defects in neural circuit development and imbalances in excitatory glutamatergic and inhibitory GABAergic neurotransmission. While alterations in excitatory synapse function and plasticity are well-established in Fmr1 knockout (KO) mouse models of FXS, a number of recent electrophysiological and molecular studies now identify prominent defects in inhibitory GABAergic transmission in behaviorally relevant forebrain regions such as the amygdala, cortex, and hippocampus. In this review, we summarize evidence for GABAergic system dysfunction in FXS patients and Fmr1 KO mouse models alike. We then discuss some of the known developmental roles of GABAergic signaling, as well as the development and refinement of GABAergic synapses as a framework for understanding potential causes of mature circuit dysfunction. Finally, we highlight the GABAergic system as a relevant target for the treatment of FXS. Copyright (C) 2011 S. Karger AG, Basel C1 [Paluszkiewicz, Scott M.; Martin, Brandon S.; Huntsman, Molly M.] Childrens Natl Med Ctr, Ctr Neurosci Res, Washington, DC 20010 USA. [Paluszkiewicz, Scott M.; Martin, Brandon S.] Georgetown Univ Med Ctr, Interdisciplinary Program Neurosci, Washington, DC USA. RP Paluszkiewicz, SM (reprint author), Childrens Natl Med Ctr, Ctr Neurosci Res, Washington, DC 20010 USA. EM MHuntsman@cnmcresearch.org FU NIH/NINDS [R01NS053719]; Autism Speaks; FRAXA; CIHR; Epilepsy Foundation FX This work was supported by NIH/NINDS (R01NS053719), Autism Speaks, and FRAXA grants to M. M. H., a CIHR doctoral research award to S. M. P., and an Epilepsy Foundation predoctoral training fellowship to B.S.M. 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Neurosci. PY 2011 VL 33 IS 5 BP 349 EP 364 DI 10.1159/000329420 PG 16 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 857VU UT WOS:000297752000002 PM 21934270 ER PT J AU Budimirovic, DB Kaufmann, WE AF Budimirovic, Dejan B. Kaufmann, Walter E. TI What Can We Learn about Autism from Studying Fragile X Syndrome? SO DEVELOPMENTAL NEUROSCIENCE LA English DT Review DE Fragile X syndrome; Autism spectrum disorder; Intellectual disability; Autistic features; Social anxiety; Social withdrawal ID FMR1 KNOCKOUT MOUSE; PERVASIVE DEVELOPMENTAL DISORDERS; ABERRANT BEHAVIOR CHECKLIST; NEURONAL PROTEIN-SYNTHESIS; OPEN-LABEL TRIAL; SPECTRUM DISORDERS; MENTAL-RETARDATION; SOCIAL-BEHAVIOR; PSYCHIATRIC-DISORDERS; IDIOPATHIC AUTISM AB Despite early controversy, it is now accepted that a substantial proportion of children with fragile X syndrome (FXS) meets diagnostic criteria for autism spectrum disorder (ASD). This change has led to an increased interest in studying the association of FXS and ASD because of the clinical consequences of their co-occurrence and the implications for a better understanding of ASD in the general population. Here, we review the current knowledge on the behavioral, neurobiological (i.e., neuroimaging), and molecular features of ASD in FXS, as well as the insight into ASD gained from mouse models of FXS. This review covers critical issues such as the selectivity of ASD in disorders associated with intellectual disability, differences between autistic features and ASD diagnosis, and the relationship between ASD and anxiety in FXS patients and animal models. While solid evidence supporting ASD in FXS as a distinctive entity is emerging, neurobiological and molecular data are still scarce. Animal model studies have not been particularly revealing about ASD in FXS either. Nevertheless, recent studies provide intriguing new leads and suggest that a better understanding of the bases of ASD will require the integration of multidisciplinary data from FXS and other genetic disorders. Copyright (C) 2011 S. Karger AG, Basel C1 [Budimirovic, Dejan B.; Kaufmann, Walter E.] Johns Hopkins Univ, Ctr Genet Disorders Cognit & Behav, Kennedy Krieger Inst, Sch Med, Baltimore, MD 21205 USA. [Budimirovic, Dejan B.; Kaufmann, Walter E.] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA. [Kaufmann, Walter E.] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA. [Kaufmann, Walter E.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA. [Kaufmann, Walter E.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA. [Kaufmann, Walter E.] Johns Hopkins Univ, Sch Med, Dept Radiol & Radiol Sci, Baltimore, MD 21205 USA. RP Kaufmann, WE (reprint author), Johns Hopkins Univ, Ctr Genet Disorders Cognit & Behav, Kennedy Krieger Inst, Sch Med, 716 N Broadway,Room 334, Baltimore, MD 21205 USA. EM kaufmann@kennedykrieger.org RI Budimirovic, Dejan/O-7885-2014 OI Budimirovic, Dejan/0000-0001-7263-5134 FU NIH [MH67092, HD24061, RR00052]; FRAXA FX This work was partially supported by NIH grants MH67092, HD24061 and RR00052, and by awards from FRAXA to W. E. K. We thank Marie Andachter, Ambroshia Murrietta, and Miliana Budimirovic for editorial assistance. We are grateful to the families who have participated in our research projects at the Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Md., USA. 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Neurosci. PY 2011 VL 33 IS 5 BP 379 EP 394 DI 10.1159/000330213 PG 16 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 857VU UT WOS:000297752000004 PM 21893949 ER PT J AU Olmos-Serrano, JL Corbin, JG Burns, MP AF Olmos-Serrano, Jose Luis Corbin, Joshua G. Burns, Mark P. TI The GABA(A) Receptor Agonist THIP Ameliorates Specific Behavioral Deficits in the Mouse Model of Fragile X Syndrome SO DEVELOPMENTAL NEUROSCIENCE LA English DT Review DE Fragile X syndrome; GABA(A) receptor agonist; Behavior; Developmental disabilities; Mouse model ID FMR1 KNOCKOUT MICE; TONIC INHIBITION; PHARMACOLOGICAL RESCUE; PREPULSE INHIBITION; SYNAPTIC PLASTICITY; DENDRITIC SPINES; STARTLE RESPONSE; FEAR MEMORY; AMYGDALA; TRANSMISSION AB Hyperactivity, hypersensitivity to auditory stimuli, and exaggerated fear are common behavioral abnormalities observed in individuals with fragile X syndrome (FXS), a neurodevelopmental disorder that is the most common genetic cause of autism. Evidence from studies of the Fmr1 knockout (KO) mouse model of FXS supports the notion that impaired GABAergic transmission in different brain regions such as the amygdala, striatum or cerebral cortex is central to FXS behavioral abnormalities. This suggests that the GABAergic system might be an intriguing target to ameliorate some of the phenotypes in FXS. Our recent work revealed that THIP (gaboxadol), a GABA A receptor agonist, can restore principal neuron excitability deficits in the Fmr1 KO amygdala, suggesting that THIP may also restore some of the key behavioral abnormalities in Fmr1 KO mice. Here, we reveal that THIP significantly attenuated hyperactivity in Fmr1 KO mice, and reduced prepulse inhibition in a volume-dependent manner. In contrast, THIP did not reverse the deficits in cued fear or startle response. Thus, this study shows that enhancing GABAergic transmission can correct specific behavioral phenotypes of the Fmr1 KO mouse further supporting that targeting the GABAergic system, and specifically tonic inhibition, might be important for correcting or ameliorating some key behaviors in FXS. Copyright (C) 2011 S. Karger AG, Basel C1 [Burns, Mark P.] Georgetown Univ, Med Ctr, Dept Neurosci, Washington, DC 20007 USA. [Olmos-Serrano, Jose Luis; Corbin, Joshua G.] Georgetown Univ, Med Ctr, Childrens Natl Med Ctr, Ctr Neurosci Res, Washington, DC 20007 USA. RP Burns, MP (reprint author), Georgetown Univ, Med Ctr, Dept Neurosci, Res Bldg WP22A,3970 Reservoir Rd NW, Washington, DC 20007 USA. EM mpb37@georgetown.edu FU Hazeltine Foundation; Neurodevelopment Disorders Fund; FRAXA Research Foundation; Autism Speaks; National Institute on Neurological Disorders and Stroke [MPB NS067417] FX This work was supported by the Hazeltine Foundation (J.G.C.), the Neurodevelopment Disorders Fund (J.G.C.), the FRAXA Research Foundation (J.G.C.), Autism Speaks (J.G.C.) and the National Institute on Neurological Disorders and Stroke (MPB NS067417). We thank Karen Gale and Patrick Forcelli for their assistance with their ASR and PPI equipment. 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See vol. 32, pg. 313, 2014) SO DIGESTIVE DISEASES LA English DT Article DE Gut microbiota; Inflammatory bowel disease; Metagenomic studies; Pediatric diseases; Celiac disease; Asthma; Allergy; Autism ID 16S RIBOSOMAL-RNA; GRADIENT GEL-ELECTROPHORESIS; INFLAMMATORY-BOWEL-DISEASE; IN-SITU HYBRIDIZATION; HUMAN FECAL SAMPLES; CROHNS-DISEASE; HUMAN FECES; INTESTINAL MICROBIOTA; BACTERIAL COMMUNITIES; ULCERATIVE-COLITIS AB Background: Researchers have made every effort to assess the role of gut microbiota in pediatric diseases like inflammatory bowel disease (IBD), celiac disease, asthma, allergy, and autism. The leading hypothesis is that an altered microbial composition is present (other than the presence of a specific pathogen) and that it could be involved in the pathogenesis or progression of such disorders. Methods: Cultural, molecular, metabolomic, and metagenomic approaches are trying to define the pediatric gut microbiota imbalances in different diseases. Results and Conclusion: In pediatric IBD, a marked increase in aerobes and facultative anaerobes was found, along with an increase in Enterobacteriaceae members (Escherichia coli). In both pediatric IBD and celiac disease (Th1-mediated disorders), higher bacterial cell counts were observed, jointly with a general gain of biodiversity. A preponderance of Bacteroidetes and a parallel decrease of Firmicutes was also reported in IBD, celiac disease and autism. Contrarily, dietary changes due to Western lifestyles increase Firmicutes populations and lower short-chain fatty acids production, possibly exposing 'developed' children to the infectious challenge (Escherichia and Shigella spp.). Lactobacillus and Bifidobacterium species could be protective agents for atopic diseases, while Clostridia, Enterobacteriaceae, and staphylococci can be associated with an increased risk of such Th2-mediated disorders. In the brain-gut axis view, gut microbiota could also play a role in autism. Copyright (C) 2011 S. Karger AG, Basel C1 [Iebba, Valerio] Univ Roma La Sapienza, Microbiol Unit, Dept Publ Hlth Sci, IT-00185 Rome, Italy. [Aloi, Marina; Civitelli, Fortunata; Cucchiara, Salvatore] Univ Roma La Sapienza, Dept Pediat, Pediat Gastroenterol & Liver Unit, IT-00185 Rome, Italy. RP Iebba, V (reprint author), Univ Roma La Sapienza, Microbiol Unit, Dept Publ Hlth Sci, Piazzale Aldo Moro 5, IT-00185 Rome, Italy. 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The discussion was transcribed verbatim and a descriptive thematic analysis was performed. Results. Parents stated that knowing whether a particular behaviour is the result of CP or a behavioural issue is challenging. Parents were also keen to promote communication, independence and socialisation in their child. In addition, parents also discussed the challenges of parenting under time pressure, with additional parenting tasks, under public scrutiny and with grief. Both parents and professionals found SSTP to be a feasible and appropriate intervention for parents of children with CP. Conclusions. The parents of children with CP in this study faced a range of parenting challenges that may be effectively targeted by a parenting intervention. In addition, parents and health professionals found SSTP content acceptable and feasible for use with parents of children with CP. 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Rehabil. PY 2011 VL 33 IS 17-18 BP 1557 EP 1567 DI 10.3109/09638288.2010.535090 PG 11 WC Rehabilitation SC Rehabilitation GA 811AH UT WOS:000294173200008 PM 21126162 ER PT J AU Langan, M AF Langan, Mary TI Parental voices and controversies in autism SO DISABILITY & SOCIETY LA English DT Article DE autism; 'refrigerator mother'; psychogenic; 'unorthodox biomedical'; neurodiversity ID CHILDREN; STRESS AB Parents of children with autism have played a prominent role in controversies surrounding this condition. Parental voices were critical in challenging the 'refrigerator mother' theory and more recently have attracted public attention for claims that autism may be caused by childhood vaccinations and that 'unorthodox biomedical' treatments may enable some children to 'recover' from autism. Over the past decade, some parents have rejected this approach, making common cause with people with conditions on the autistic spectrum who repudiate the quest for treatments and 'cures'. Through a study of parental accounts, this paper examines how parental voices have contributed to the evolving official discourse around autism as well as to public awareness of the condition. C1 Open Univ, Milton Keynes MK7 6AA, Bucks, England. RP Langan, M (reprint author), Open Univ, Milton Keynes MK7 6AA, Bucks, England. 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The predominant narrative in Western society of autism as a 'disease' within the medical model contrasts with the more positive, empowering view of autism as a 'difference' in the social model and neurodiversity movement. Society has also discriminated against and disabled the Navajo Native Americans since the arrival of Euro-Americans. Navajos resiliently balance between exercising self-determination within their own nation and adapting to outside society, with a culture that remains remarkably intact. The Navajo thus presented exceptional opportunity for cross-cultural analysis. It suggested that the traditional Navajo social constructs of harmony and beauty, as encompassed by a wellness philosophy called Hozho, better serve the needs of Autistic people than the Western notion of 'progress' through science and technology. C1 Univ Calif Los Angeles, Div Psychol Studies Educ, Grad Sch Educ & Informat Studies, Los Angeles, CA 90095 USA. RP Kapp, SK (reprint author), Univ Calif Los Angeles, Div Psychol Studies Educ, Grad Sch Educ & Informat Studies, Los Angeles, CA 90095 USA. 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PY 2011 VL 26 IS 5 SI SI BP 583 EP 595 DI 10.1080/09687599.2011.589192 PG 13 WC Rehabilitation; Social Sciences, Interdisciplinary SC Rehabilitation; Social Sciences - Other Topics GA 883JF UT WOS:000299629500006 ER PT J AU Wheeler, M AF Wheeler, Marc TI Syndrome or difference: a critical review of medical conceptualisations of Asperger's syndrome SO DISABILITY & SOCIETY LA English DT Review DE Asperger's syndrome; medical conceptualisations; disability studies ID AUTISM; DISORDER AB We live in a world of vast social differences. People of different ages, cultures, religions, gender and sexual orientation have, and indeed are expected to have, distinct differences in their behaviour, and in the way that they see the world. Asperger's syndrome (AS) is no different. People with AS have different personality types and have different perceptions of the world. Yet medical conceptualisations of AS have led to it being viewed as a deficit, a 'pervasive developmental disorder' that should be diagnosed and treated to allow the person to function in 'normal' society. Research has focused on finding neurological and genetic 'abnormalities' to explain what is in fact a complex pattern of behaviour, no different from the behavioural differences between any social group. This paper attempts to provide a critical review of the literature behind medical conceptualisations of AS, and will seek to find a new conceptualisation, drawing on recent criticisms of its medicalisation, to shift the barriers to view AS, not as a medical condition but as a social difference that should be accepted, not reduced. C1 Univ Plymouth, Fac Educ, Plymouth PL4 8AA, Devon, England. RP Wheeler, M (reprint author), Univ Plymouth, Fac Educ, Plymouth PL4 8AA, Devon, England. 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Soc. PY 2011 VL 26 IS 7 BP 839 EP 851 DI 10.1080/09687599.2011.618739 PG 13 WC Rehabilitation; Social Sciences, Interdisciplinary SC Rehabilitation; Social Sciences - Other Topics GA 883JY UT WOS:000299631400004 ER PT J AU Gebril, OH Meguid, NA AF Gebril, Ola H. Meguid, Nagwa A. TI HFE gene polymorphisms and the risk for autism in Egyptian children and impact on the effect of oxidative stress SO DISEASE MARKERS LA English DT Article DE Neurodevelopmental disorders; Iron; haemochromatosis; genes; polymorphisms ID HEREDITARY HEMOCHROMATOSIS PROTEIN; TRANSFERRIN RECEPTOR; RNA EXPRESSION; SPORADIC ALS; IRON; ASSOCIATION; MUTATIONS; FERRITIN; DISEASE AB Background: Autism is among the commonest neurodevelopmental childhood disorders worldwide; its aetiology is still unknown. Iron metabolism alteration in the central nervous system is recently implicated as a risk factor for several neurodegenerative disorders. Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with several neurological diseases. Some evidences show altered iron related proteins in serum of autistic children. The aim of this work is to conduct a preliminary pilot study for the association of HFE polymorphisms and autism. Methods: All cases were referred from the clinic of special needs, National Research Centre, Cairo. Clinical diagnosis was based on the criteria for autistic disorder as defined in the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision (DSM-IV-TR). Whole genome DNA was extracted; p.H63D and p. C282Y genotyping was studied using specific sequence amplification followed by restriction enzyme digestion on a sample of autism patients (25 cases) and twenty controls. Results: The p.H63D is more abundant than the C282Y among both autism and control samples. No significant association of p.H63D nor p.C282Y polymorphism and autism was revealed. Conclusion: We here report on the first pilot study of the possible genetic association between autism and HFE gene polymorphisms among Egyptians. Although our results do not prove the role of HFE polymorphisms as risk factors for autism, yet this does not exclude the role of iron in this prevalent disorder. Further extended studies are recommended to include other iron metabolism genes. C1 [Gebril, Ola H.; Meguid, Nagwa A.] Natl Res Ctr, Dept Res Children Special Needs, Cairo, Egypt. RP Gebril, OH (reprint author), Natl Res Ctr, Dept Res Children Special Needs, Cairo, Egypt. 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Markers PY 2011 VL 31 IS 5 BP 289 EP 294 DI 10.3233/DMA-2011-0830 PG 6 WC Biotechnology & Applied Microbiology; Genetics & Heredity; Medicine, Research & Experimental; Pathology SC Biotechnology & Applied Microbiology; Genetics & Heredity; Research & Experimental Medicine; Pathology GA 844MY UT WOS:000296752500005 PM 22048270 ER PT J AU Lozano-Martinez, J Alcaraz-Garcia, S AF Lozano-Martinez, Josefina Alcaraz-Garcia, Salvador TI EDUCATIONAL SOFTWARE DESIGNED FOR TEACHING EMOTIONAL COMPETENCES TO STUDENTS WITH AUTISM SPECTRUM DISORDER SO EDUCACION XX1 LA Spanish DT Article DE Educational software; autism spectrum disorder; emotional competence; teaching ID ASPERGER-SYNDROME; CHILDREN; INTERVENTION; ENVIRONMENTS; INDIVIDUALS; RECOGNITION; INSTRUCTION; PEOPLE AB This article aims to assess a particular process of teaching emotional competences with educational software to students with autism spectrum disorders. Two students with autistic disorder and two students with Asperger syndrome of primary and secondary education participated in design of collaborative research between university and school teachers during two academic years. When the teaching process was completed, students showed a notable improvement of their performance to undertake tasks that assess the ability to recognize and understand emotions. These learning improvements owe their benefits to the organization of content, presentation of tasks and the motivation provided by the use of educational software in educational intervention with students with ASD. C1 [Lozano-Martinez, Josefina; Alcaraz-Garcia, Salvador] Univ Murcia, Fac Educ, E-30100 Murcia, Spain. RP Lozano-Martinez, J (reprint author), Univ Murcia, Fac Educ, Campus Univ Espinardo, E-30100 Murcia, Spain. 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XX1 PY 2011 VL 14 IS 2 BP 189 EP 212 PG 24 WC Education & Educational Research SC Education & Educational Research GA 794NJ UT WOS:000292904300008 ER PT J AU Burger-Veltmeijer, AEJ Minnaert, AEMG Van Houten-Van den Bosch, EJ AF Burger-Veltmeijer, Agnes E. J. Minnaert, Alexander E. M. G. Van Houten-Van den Bosch, Els J. TI The co-occurrence of intellectual giftedness and Autism Spectrum Disorders SO EDUCATIONAL RESEARCH REVIEW LA English DT Review DE Giftedness; Intelligence; Autism; Asperger; Needs-based assessment ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; CHILDREN; STUDENTS; INTELLIGENCE; ABILITIES; TALENTS; TESTS AB This systematic literature review explored the state of the art concerning the theoretical and empirical knowledge of the twice-exceptionality of Intellectual Giftedness and Autism Spectrum Disorders (IG + ASD)(3), in relation to diagnostic and assessment issues. After searching and examining publications in peer-reviewed journals and dissertations, we encountered a variety of methodologies being used. The results showed the absence, until now, of theoretical conceptualisations of the phenomenon IG + ASD. Nevertheless, this contribution revealed some converging tendencies concerning both personal characteristics and diagnostic and assessment issues, between publications with and without Systematic Identification Measures (SIM). Some findings, like the 'superior non-verbal abilities', are discussed in relation to (controversial) image formation of IG and IG + ASD. Altogether, the results indicated the need for an in-depth exploration and conceptualisation of the phenomenon IG + ASD. Meanwhile, future research should also address the practical psychological-educational need for both classification-based and needs-based assessment procedures, regarding students with (suspicion of) IG + ASD. (c) 2010 Elsevier Ltd. All rights reserved. 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Res. Rev. PY 2011 VL 6 IS 1 BP 67 EP 88 DI 10.1016/j.edurev.2010.10.001 PG 22 WC Education & Educational Research SC Education & Educational Research GA 739BR UT WOS:000288687800004 ER PT J AU McManus, IC Loo, PW Chamberlain, R Riley, H Brunswick, N AF McManus, I. C. Loo, Phik-Wern Chamberlain, Rebecca Riley, Howard Brunswick, Nicola TI DOES SHAPE CONSTANCY RELATE TO DRAWING ABILITY? TWO FAILURES TO REPLICATE SO EMPIRICAL STUDIES OF THE ARTS LA English DT Article ID AUTISM AB People vary in their ability to make accurate representational drawings. Cohen and Jones (2008) have suggested that individuals who draw poorly have problems in the perception of objects, so that the extent of shape constancy (phenomenal regression) correlates with drawing ability, there being a "robust negative relation between perceptual errors resulting from shape constancy and drawing accuracy." The present article describes two attempts to replicate that finding, with 30 non-art students in Study 1 and with 106 art students in Study 2. Study 1 found a correlation that was statistically significant, but in the opposite direction to that reported by Cohen and Jones, and in Study 2 the correlation was very close to zero. Combining these results with those of Cohen and Jones using a random-effects meta-analysis finds a non-significant correlation overall. Taken together, these findings throw doubt on the Cohen and Jones' hypothesis that those with less phenomenal regression have better representational drawing ability. C1 [McManus, I. C.] UCL, Div Psychol & Language Sci, Res Dept Clin Educ & Hlth Psychol, London WC1E 6BT, England. [Riley, Howard] Swansea Metropolitan Univ, Swansea, W Glam, Wales. [Brunswick, Nicola] Middlesex Univ, London N17 8HR, England. 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H., 1932, BRIT J PSYCHOL, V22, P216 NR 19 TC 5 Z9 5 PU BAYWOOD PUBL CO INC PI AMITYVILLE PA 26 AUSTIN AVE, PO BOX 337, AMITYVILLE, NY 11701 USA SN 0276-2374 J9 EMPIR STUD ARTS JI Empir. Stud. Arts PY 2011 VL 29 IS 2 BP 191 EP 208 DI 10.2190/EM.29.2.d PG 18 WC Humanities, Multidisciplinary; Psychology, Multidisciplinary SC Arts & Humanities - Other Topics; Psychology GA 053OA UT WOS:000312281100004 ER PT J AU Jensen, FE AF Jensen, Frances E. TI Epilepsy as a spectrum disorder: Implications from novel clinical and basic neuroscience SO EPILEPSIA LA English DT Article DE Cognitive comorbidity; Connectome; Interictal; Seizure ID EPILEPTOGENESIS; TRANSCRIPTION; OSCILLATIONS; HIPPOCAMPUS; SEIZURES; OUTCOMES; DISEASE; AUTISM AB P>Epilepsy is increasingly recognized as a disease that reaches well beyond seizures. Cognitive and psychiatric impairment affect half of all epilepsy patients, and to date there are no specific treatments for these symptoms. It is unclear which of these comorbidities are directly due to seizures and which are due to separable mechanisms that are parallel to those underlying ictal activity. Cellular and molecular mechanisms underlying synaptic modulation are central to both the ictal and nonictal changes in epilepsy. Current diagnostic methods are rapidly advancing to better delineate the nature and extent of ictal activity, and could soon be critical in identifying patterns unique to the cognitive and psychiatric comorbidities. C1 [Jensen, Frances E.] Childrens Hosp Boston, Boston, MA 02115 USA. [Jensen, Frances E.] Harvard Univ, Sch Med, Boston, MA USA. RP Jensen, FE (reprint author), Childrens Hosp Boston, CLS 14073,300 Longwood Ave, Boston, MA 02115 USA. EM frances.jensen@childrens.harvard.edu FU NIH [NS03718, DP1 OD003347] FX Dr. Jensen is funded by NIH NS03718 and DP1 OD003347. 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The high rate of co-occurrence of these disorders, however, suggests potentially shared underlying mechanisms. A number of well-known genetic disorders share epilepsy, intellectual disability, and autism as prominent phenotypic features, including tuberous sclerosis complex, Rett syndrome, and fragile X syndrome. In addition, mutations of several genes involved in neurodevelopment, including ARX, DCX, neuroligins, and neuropilin 2 have been identified in children with epilepsy, IDDs, ASDs, or a combination of thereof. Finally, in animal models, early life seizures can result in cellular and molecular changes that could contribute to learning and behavioral disabilities. Increased understanding of the common genetic, molecular, and cellular mechanisms of IDDs, ASDs, and epilepsy may provide insight into their underlying pathophysiology and elucidate new therapeutic approaches for these conditions. 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10.1111/j.1528-1167.2010.02906.x PG 8 WC Clinical Neurology SC Neurosciences & Neurology GA 703SF UT WOS:000286000900003 PM 21214535 ER PT J AU Rothschild-Yakar, L Eviatar, Z Shamia, A Gur, E AF Rothschild-Yakar, Lily Eviatar, Zohar Shamia, Adi Gur, Eitan TI Social Cognition in Eating Disorders: Encoding and Representational Processes in Binging and Purging Patients SO EUROPEAN EATING DISORDERS REVIEW LA English DT Article DE eating disorders; social cognition; mentalization ID ANOREXIA-NERVOSA; BULIMIA-NERVOSA; OBJECT RELATIONS; EMOTION; RECOGNITION; DEPRESSION; AUTISM; MIND AB Objective: The present study investigates social cognition impairments in 29 women with bingeing/purging spectrum eating disorders (ED) compared to 27 healthy controls. Method: Measures were used to examine encoding and representational processes in relation to affect perception and affect attribution, as well as the ability to recognize mental causality in social relationships. Results: ED patients failed to correctly encode causality in interpersonal relations, exhibited deficits in their ability to ascribe behaviour to mental states, and showed a greater tendency to attribute negative affects in interpersonal relationships. Stepwise regression analyses suggested that ED symptoms could account for deficits in the recognition of causality in interpersonal relations. Conclusions: In addition to addressing ED symptoms, social cognition deficits should be addressed in the psychological treatment of EDs. Copyright (C) 2010 John Wiley & Sons, Ltd and Eating Disorders Association. C1 [Rothschild-Yakar, Lily; Eviatar, Zohar; Shamia, Adi] Univ Haifa, Dept Psychol, IL-31905 Haifa, Israel. 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Eat. Disord. Rev. PD JAN-FEB PY 2011 VL 19 IS 1 BP 75 EP 84 DI 10.1002/erv.1013 PG 10 WC Psychology, Clinical SC Psychology GA 702YS UT WOS:000285932400010 PM 20672249 ER PT J AU Castren, M Gaily, E Tengstrom, C Lahdetie, J Archer, H Ala-Mello, S AF Castren, Maija Gaily, Eija Tengstrom, Carola Lahdetie, Jaana Archer, Hayley Ala-Mello, Sirpa TI Epilepsy caused by CDKL5 mutations SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY LA English DT Article DE Epilepsy; Mental retardation; CDKL5; Dysmorphology ID ONSET INTRACTABLE EPILEPSY; OF-THE-LITERATURE; RETT-SYNDROME; INTERSTITIAL DELETION; SEVERE ENCEPHALOPATHY; INFANTILE SPASMS; SEIZURE VARIANT; WEST-SYNDROME; GENE; GIRL AB Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. Here, we describe the phenotype of a severe form of neurodevelopmental disease in a female patient with a de novo nonsense mutation of the CDKL5 gene c.175C > T (p.R59X) affecting the catalytic domain of CDKL5 protein. Mutations in the CDKL5 gene are less common in males and can be associated with a genomic deletion as found in our male patient with a deletion of 0.3 Mb at Xp22.13 including the CDKL5 gene. We review phenotypes associated with CDKL5 mutations and examine putative relationships between the clinical epilepsy phenotype and the type of the mutation in the CDKL5 gene. (C) 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. C1 [Castren, Maija; Tengstrom, Carola; Ala-Mello, Sirpa] Rinnekoti Fdn, FIN-02980 Espoo, Finland. [Castren, Maija] Univ Helsinki, Dept Biomed Physiol, FIN-00014 Helsinki, Finland. [Gaily, Eija; Lahdetie, Jaana] Univ Helsinki, Cent Hosp, Dept Child Neurol, FIN-00029 Helsinki, Finland. [Lahdetie, Jaana] Turku Univ, Cent Hosp, FIN-20521 Turku, Finland. [Archer, Hayley] Univ Wales Hosp, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales. [Castren, Maija; Ala-Mello, Sirpa] Univ Helsinki, Cent Hosp, Dept Clin Genet, FIN-00029 Helsinki, Finland. RP Castren, M (reprint author), Rinnekoti Fdn, Rinnekodintie 10, FIN-02980 Espoo, Finland. EM maija.castren@rinnekoti.fi FU Arvo and Lea Ylppo Foundation; Health Care Foundation FX The study was supported by grants from Arvo and Lea Ylppo Foundation and the Health Care Foundation. 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PY 2011 VL 26 IS 4 BP 411 EP 427 DI 10.1080/08856257.2011.597172 PG 17 WC Education, Special SC Education & Educational Research GA V37WA UT WOS:000209304700001 ER PT J AU Kaniel, S Siman-Tov, A AF Kaniel, Shlomo Siman-Tov, Ayelet TI Comparison between mothers and fathers in coping with autistic children: a multivariate model SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Article DE stress; adjustment; psychological resources; autism; gender; parents AB The main purpose of this research is to compare the differences between how mothers and fathers cope with autistic children based on a multivariate model that describes the relationships between parental psychological resources, parental stress appraisal and parental adjustment. 176 parents who lived in Israel (88 mothers and 88 fathers) of children aged between 6 to 16 most of them (81%) were diagnosed as suffering from PDD and the rest (19%) as suffering from PDDNOS. The parents answered several questionnaires measuring parental psychological resources (social support, sense of coherence, locus of control), parental appraisal of stress (challenge vs. threat), and parental adjustment (mental health and marriage quality). The results show that all the variables entered the path analysis model with the same pattern. However, some links between the variables are quite similar for mothers and fathers while others are different. The results lead to several interesting suggestions for future research using dynamic systems framework and process-oriented methodological approaches. C1 [Kaniel, Shlomo] Bar Ilan Univ, Sch Educ, Ramat Gan, Israel. [Siman-Tov, Ayelet] Kibbutzim Coll Educ Technol & Arts, Dept Special Educ, Tel Aviv, Israel. RP Kaniel, S (reprint author), Bar Ilan Univ, Sch Educ, Ramat Gan, Israel. 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PY 2011 VL 26 IS 4 BP 479 EP 493 DI 10.1080/08856257.2011.597186 PG 15 WC Education, Special SC Education & Educational Research GA V37WA UT WOS:000209304700005 ER PT J AU Behan, AT Van den Hove, DLA Mueller, L Jetten, MJA Steinbusch, HWM Cotter, DR Prickaerts, J AF Behan, Aine T. Van den Hove, Daniel L. A. Mueller, Lynn Jetten, Marlon J. A. Steinbusch, Harry W. M. Cotter, David R. Prickaerts, Jos TI Evidence of female-specific glial deficits in the hippocampus in a mouse model of prenatal stress SO EUROPEAN NEUROPSYCHOPHARMACOLOGY LA English DT Article DE Prenatal stress; Mice; Hippocampus; Sexual dimorphism; Psychiatric disorders ID DORSOLATERAL PREFRONTAL CORTEX; ANTERIOR CINGULATE CORTEX; FIBRILLARY ACIDIC PROTEIN; MAJOR DEPRESSIVE DISORDER; CHRONIC MILD STRESS; MATERNAL STRESS; BRAIN-DEVELOPMENT; GLUCOCORTICOID SECRETION; GESTATIONAL STRESS; RESTRAINT STRESS AB Prenatal stress (PS) has been associated with an increased incidence of numerous neuropsychiatric disorders, including depression, anxiety, schizophrenia, and autism. To determine the effects of PS on hippocampal-dependent behaviour hippocampal morphology, we examined behavioural responses and hippocampal cytoarchitecture of a maternal restraint stress paradigm of PS in C57BL6 mice. Female offspring only showed a reduction in hippocampal glial count in the pyramidal layer following PS. Additionally, only PS females showed increased depressive-like behaviour with cognitive deficits predominantly in female offspring when compared to males. This data provides evidence for functional female-specific glial deficits within the hippocampus as a consequence of PS. (C) 2010 Elsevier B.V. and ECNP. All rights reserved. C1 [Behan, Aine T.; Cotter, David R.] Royal Coll Surgeons Ireland, Dept Psychiat, RCSI Educ & Res Ctr, Beaumont Hosp, Dublin 9, Ireland. [Van den Hove, Daniel L. A.; Mueller, Lynn; Jetten, Marlon J. A.; Steinbusch, Harry W. M.; Prickaerts, Jos] Maastricht Univ, Sch Mental Hlth & Neurosci MHeNS, Dept Neurosci, NL-6200 MD Maastricht, Netherlands. RP Behan, AT (reprint author), Royal Coll Surgeons Ireland, Dept Psychiat, RCSI Educ & Res Ctr, Beaumont Hosp, Smurfit Bldg, Dublin 9, Ireland. EM abehan@rcsi.ie; drcotter@rcsi.ie RI cotter, david/D-8249-2012 FU Wellcome Trust; Science Foundation Ireland; European Union [LSHM-CT-2004-503474] FX Aine Behan was supported by the Wellcome Trust (university award/project grant awarded to David Cotter), and Science Foundation Ireland (Research Frontiers Programme awarded to David Cotter). Daniel L.A. van den Hove and Jos Prickaerts were supported by the European Union Framework Integrated Project NEWMOOD grant LSHM-CT-2004-503474. 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Neuropsychopharmacol. PD JAN PY 2011 VL 21 IS 1 SI SI BP 71 EP 79 DI 10.1016/j.euroneuro.2010.07.004 PG 9 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 713BW UT WOS:000286711000008 PM 20702067 ER PT J AU Bakken, TL Martinsen, H Friis, S Lovoll, S Eilertsen, DE AF Bakken, T. L. Martinsen, H. Friis, S. Lovoll, S. Eilertsen, D. E. TI ASSESSMENT OF SCHIZOPHRENIA IN ADULTS WITH INTELLECTUAL DISABILITY AND AUTISM - AN EMPIRICAL STUDY SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Bakken, T. L.; Martinsen, H.; Friis, S.; Lovoll, S.; Eilertsen, D. E.] Oslo Univ Hosp, Psychiat Dept Adults Intellectual Disabil, Asker, Norway. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC02-04 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302019 ER PT J AU Fitzgerald, M AF Fitzgerald, M. TI OVERLAP BETWEEN ATTENTION DEFICIT HYPERACTIVITY DISORDER AND AUTISM SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Fitzgerald, M.] Trinity Coll Dublin, Dept Psychiat, Dublin, Ireland. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC05-01 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302035 ER PT J AU Garcia, JA AF Garcia, J. A. TI CALL OF INTERNATIONAL HELP: A TEENAGER WITH AUTISM HELP REPEATEDLY TO GO OUT OF HIS SITUATION SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Garcia, J. A.] Univ Valladolid, Valladolid, Spain. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-286 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300287 ER PT J AU Garcia, JA Raya, AS del Arco, ES AF Garcia, J. A. Raya, A. S. del Arco, E. S. TI AN ALERT IN THE PSYCHO-SOCIAL-HEALTH INTERVENTION. A GRAPHIC TESTIMONY OF A REAL CASE WITH AUTISM SPECTRUM DISORDER SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Garcia, J. A.] Univ Valladolid, Valladolid, Spain. [Raya, A. S.] Univ Cordoba, Cordoba, Spain. [del Arco, E. S.] Co Children TDAH, Santander, Spain. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P02-162 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300753 ER PT J AU Goh, TJ Sung, M Ooi, YP Lam, CM Chua, A Fung, D Pathy, P AF Goh, T. J. Sung, M. Ooi, Y. P. Lam, C. M. Chua, A. Fung, D. Pathy, P. TI EFFECTS OF A SOCIAL RECREATIONAL PROGRAM FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS - PRELIMINARY FINDINGS SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Goh, T. J.; Sung, M.; Ooi, Y. P.; Fung, D.; Pathy, P.] Inst Mental Hlth, Dept Child & Adolescent Psychiat, Singapore, Singapore. [Lam, C. M.; Chua, A.] Autism Resource Ctr, Singapore, Singapore. RI Ooi, Yoon Phaik/D-3944-2015 NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-289 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300290 ER PT J AU Gousse, V Hagi, A Stilgenbauer, JL Delorme, R AF Gousse, V. Hagi, A. Stilgenbauer, J. -L. Delorme, R. TI LACK OF MENTAL FLEXIBILITY AS ENDOPHENOTYPE IN AUTISM SPECTRUM DISORDER AND OBSESSIVE COMULSIVE DISORDER FAMILIES SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Gousse, V.; Stilgenbauer, J. -L.] Univ Paris 08, St Denis, France. [Hagi, A.] Univ Bergamo, Bergamo, Italy. [Delorme, R.] Robert Debre Hosp, Paris, France. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P02-374 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641301071 ER PT J AU Granpeesheh, D Kenzer, A Tarbox, J AF Granpeesheh, D. Kenzer, A. Tarbox, J. TI COMPARISON OF TWO-YEAR OUTCOMES FOR CHILDREN WITH AUTISM RECEIVING HIGH VERSUS LOW-INTENSITY BEHAVIORAL INTERVENTION SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Granpeesheh, D.; Kenzer, A.; Tarbox, J.] Ctr Autism & Related Disorders, Tarzana, CA USA. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC05-06 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302040 ER PT J AU Green, J Charman, T Mc Conachie, H Aldred, C Slonims, V Howlin, P Le Couteur, A Leadbitter, K Hudry, K Byford, S Barrett, B Temple, K Macdonald, W Pickles, A AF Green, J. Charman, T. Mc Conachie, H. Aldred, C. Slonims, V. Howlin, P. Le Couteur, A. Leadbitter, K. Hudry, K. Byford, S. Barrett, B. Temple, K. Macdonald, W. Pickles, A. CA PACT Consortium TI PARENT-MEDIATED COMMUNICATION-FOCUSED TREATMENT FOR PRESCHOOL CHILDREN WITH AUTISM (MRC PACT); A RANDOMISED CONTROLLED TRIAL SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Green, J.; Macdonald, W.; Pickles, A.] Univ Manchester, Manchester, Lancs, England. [Charman, T.; Hudry, K.] W London Inst Higher Educ, London, England. [Mc Conachie, H.; Le Couteur, A.; Temple, K.] Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [Aldred, C.] Stockport PCT, Stockport, Lancs, England. [Slonims, V.] Guys Hosp, London SE1 9RT, England. [Howlin, P.; Byford, S.; Barrett, B.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England. [Leadbitter, K.] Educ Author, Manchester, Lancs, England. RI Byford, Sarah/D-1699-2010; Charman, Tony/A-2085-2014; Howlin, Patricia/A-7622-2011 OI Byford, Sarah/0000-0001-7084-1495; Charman, Tony/0000-0003-1993-6549; NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC14-05 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302098 ER PT J AU Grodberg, D Weinger, P Kolevzon, A Soorya, L Buxbaum, J AF Grodberg, D. Weinger, P. Kolevzon, A. Soorya, L. Buxbaum, J. TI THE GAMSE (GRODBERG AUTISM MENTAL STATUS EXAMINATION). PRELIMINARY DEVELOPMENT OF A STANDARDIZED AUTISM-FOCUSED EXAM SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Grodberg, D.] Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY USA. [Weinger, P.; Kolevzon, A.; Soorya, L.; Buxbaum, J.] Mt Sinai Sch Med, New York, NY USA. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC05-04 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302038 ER PT J AU Huskens, B Verburg, M AF Huskens, B. Verburg, M. TI AN APPLIED BEHAVIOR ANALYSIS TRAINING PACKAGE IN THE TREATMENT OF AUTISM. THE USE OF PRINCIPLES OF PIVOTAL RESPONSE TREATMENT IN A CHILD PSYCHIATRIC CLINIC SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Huskens, B.] Dr Leo Kannerhuis, Res & Dev, Doorwerth, Netherlands. [Verburg, M.] Dr Leo Kannerhuis, Child Psychiat Clin, Doorwerth, Netherlands. RI Huskens, Bibi/G-1685-2014 NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC05-02 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302036 ER PT J AU Khodaee, MR Koolaee, AK AF Khodaee, M. R. Koolaee, A. Khodabakhshi TI PREDICTORS OF MENTAL HEALTH DISTRESS IN MOTHERS WITH AUTISM CHILDREN SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Khodaee, M. R.; Koolaee, A. Khodabakhshi] Univ Social Welf & Rehabil, Tehran, Iran. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-310 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300311 ER PT J AU Kordi, R Memari, AH AF Kordi, R. Memari, A. H. TI OBESITY IN CHILDREN WITH HIGH-FUNCTION AUTISM SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Kordi, R.; Memari, A. H.] Univ Tehran Med Sci, Sports Med Res Ctr, Tehran, Iran. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-311 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300312 ER PT J AU Memari, AH Kordi, R AF Memari, A. H. Kordi, R. TI RISPERIDONE PRESCRIPTION IN AUTISM SPECTRUM DISORDER IN TEHRAN, IRAN SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Memari, A. H.; Kordi, R.] Univ Tehran Med Sci, Sports Med Res Ctr, Tehran, Iran. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P02-572 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641301269 ER PT J AU Michel, TM Herholz, S Finkelmeier, A Schneider, F Brugmann, E Haeck, M Schneider, K Vloet, A Habel, U AF Michel, T. M. Herholz, S. Finkelmeier, A. Schneider, F. Bruegmann, E. Haeck, M. Schneider, K. Vloet, A. Habel, U. TI THE NEURONAL CORRELATES OF EMPATHY IN AUTISM SPECTRUM DISORDERS SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Herholz, S.] Rhein Westfal TH Aachen, Aachen, Germany. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P03-298 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641301568 ER PT J AU Mirfazeli, FS Memari, A Kordi, R AF Mirfazeli, F. S. Memari, A. Kordi, R. TI AUTISM COMORBIDITIES AND SOCIAL DEFICITS IN CHILDREN AGED 7-14 SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Mirfazeli, F. S.; Memari, A.; Kordi, R.] Univ Tehran Med Sci, Sport Med Res Ctr, Tehran, Iran. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P02-573 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641301270 ER PT J AU Moya-Albiol, L Sanchis-Calatayud, MV Sarinana-Gonzalez, P De Andres-Garcia, S Romero-Martinez, A Gonzalez-Bono, E AF Moya-Albiol, L. Sanchis-Calatayud, M. V. Sarinana-Gonzalez, P. De Andres-Garcia, S. Romero-Martinez, A. Gonzalez-Bono, E. TI ELECTRODERMAL ACTIVITY IN RESPONSE TO A SET OF MENTAL TASKS IN CAREGIVERS OF PERSONS WITH AUTISM SPECTRUM DISORDERS SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Moya-Albiol, L.; Sanchis-Calatayud, M. V.; Sarinana-Gonzalez, P.; De Andres-Garcia, S.; Romero-Martinez, A.; Gonzalez-Bono, E.] Univ Valencia, Valencia, Spain. RI Moya-Albiol, Luis/C-6078-2011 NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P03-425 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641301695 ER PT J AU Perlov, J Sawyer, A AF Perlov, J. Sawyer, A. TI ALMOST AUTISM SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Perlov, J.; Sawyer, A.] Univ Manitoba, Winnipeg, MB, Canada. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-342 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300343 ER PT J AU Poustka, L Jennen-Steinmetz, C Henze, R Stieltjes, B AF Poustka, L. Jennen-Steinmetz, C. Henze, R. Stieltjes, B. CA CIMH TI FRONTO-TEMPORAL DISCONNECTIVITY AND SYMPTOM SEVERITY IN AUTISM SPECTRUM DISORDERS SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Poustka, L.; Jennen-Steinmetz, C.] Cent Inst Mental Hlth, Mannheim, Germany. [Henze, R.; Stieltjes, B.] German Canc Res Inst DKFZ, Div Radiol, Heidelberg, Germany. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC05-05 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302039 ER PT J AU Rottgers, HR Brugger, B Keenan, M Gallagher, S Dillenburger, K Stromgren, B Gonzales, LAP Martin, N AF Roettgers, H. R. Brugger, B. Keenan, M. Gallagher, S. Dillenburger, K. Stromgren, B. Perez Gonzales, L. A. Martin, N. TI BRINGING "SIMPLE STEPS" - A MULTIMEDIA PACKAGE FOR AUTISM SPECIFIC BEHAVIOUR THERAPY-TO EUROPE SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Roettgers, H. R.; Brugger, B.] Univ Appl Sci, Munster, Germany. [Keenan, M.; Gallagher, S.] Univ Ulster, Coleraine BT52 1SA, Londonderry, North Ireland. [Dillenburger, K.] Queens Univ Belfast, Belfast, Antrim, North Ireland. [Stromgren, B.] Akershus Univ Coll, Lillestrom, Norway. [Perez Gonzales, L. A.] Univ Oviedo, Oviedo, Spain. [Martin, N.] ANTAM, London, England. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P03-20 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641301290 ER PT J AU Rottgers, HR Brugger, B Keenan, M Gallagher, S Dillenburger, K Stromgren, B Gonzales, LAP Martin, N AF Roettgers, H. R. Brugger, B. Keenan, M. Gallagher, S. Dillenburger, K. Stromgren, B. Gonzales, L. A. Perez Martin, N. TI BRINGING "SIMPLE STEPS" -A MULTIMEDIA PACKAGE FOR AUTISM SPECIFIC BEHAVIOUR THERAPY- TO EUROPE SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Roettgers, H. R.; Brugger, B.] Univ Appl Sci, Munster, Germany. [Keenan, M.; Gallagher, S.] Univ Ulster, Coleraine BT52 1SA, Londonderry, North Ireland. [Dillenburger, K.] Queens Univ Belfast, Belfast, Antrim, North Ireland. [Stromgren, B.] Akershus Univ Coll, Lillestrom, Norway. [Gonzales, L. A. Perez] Univ Oviedo, Oviedo, Spain. [Martin, N.] ANTAM, London, England. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA FC05-03 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641302037 ER PT J AU Romero-Martinez, A Sarinana-Gonzalez, P Natividad, JMR Sanchis-Calatayud, MV De Andres-Garcia, S Gonzalez-Bono, E Moya-Albiol, L AF Romero-Martinez, A. Sarinana-Gonzalez, P. Roa Natividad, J. M. Sanchis-Calatayud, M. V. De Andres-Garcia, S. Gonzalez-Bono, E. Moya-Albiol, L. TI THE RELATIONSHIP BETWEEN 2D:4D RATIO AND SYSTEMIZING AND EMPATHY QUOTIENTS IN PARENTS OF PEOPLE WITH AUTISM SPECTRUM DISORDERS SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [De Andres-Garcia, S.] Univ Valencia, Valencia, Spain. RI Moya-Albiol, Luis/C-6078-2011 NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P03-580 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641301850 ER PT J AU Soltanifar, A Hojati, M Mashhadi, A Reebye, P AF Soltanifar, A. Hojati, M. Mashhadi, A. Reebye, P. TI A COMPARATIVE EFFICACY OF HOLISTIC MULTIDIMENSIONAL TREATMENT MODEL (HMTM) AND APPLIED BEHAVIORAL ANALYSIS (ABA) IN THE TREATMENT OF CHILDREN WITH AUTISM SPECTRUM DISORDER (ASD) SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Soltanifar, A.] Mashhad Univ Med Sci, Psychiat Psychiat & Behav Sci Res Ctr, Mashhad, Iran. [Hojati, M.] Ferdowsi Univ Mashhad, Noore Hedayat Ctr, Mashhad, Iran. [Mashhadi, A.] Ferdowsi Univ Mashhad, Mashhad, Iran. [Reebye, P.] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-353 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300354 ER PT J AU Touhami, M Ouriaghli, F Manoudi, F Asri, F AF Touhami, M. Ouriaghli, F. Manoudi, F. Asri, F. TI AUTISM AND VIOLENCE SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Touhami, M.; Ouriaghli, F.] Ibn Sina Hosp, Acad Mil Psychiat Unit, Marrakech, Morocco. [Manoudi, F.; Asri, F.] CHU Mohamed VI, Acad Psychiat Unit, Marrakech, Morocco. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-360 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300361 ER PT J AU Vidojevic, IM Dragojevic, N AF Vidojevic, I. Milacic Dragojevic, N. TI DIAGNOSTIC CRITERIA AND THE TIME OF TRIADIC IMPAIRMENT OCCURRENCE IN AUTISM SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Vidojevic, I. Milacic; Dragojevic, N.] Univ Belgrade, Fac Special Educ & Rehabil, Belgrade, Serbia. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-326 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300327 ER PT J AU Vilela, L Silva, F Portinha, I Correia, Z AF Vilela, L. Silva, F. Portinha, I. Correia, Z. TI AUTISM AND EPILEPSY IN A PAEDIATRIC LIAISON UNIT - A BRIEF REVIEW SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Vilela, L.; Portinha, I.; Correia, Z.] Ctr Hosp Porto, Oporto, Portugal. [Silva, F.] Hosp Magalhaes Lemos, Oporto, Portugal. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2011 VL 26 SU 1 MA P01-333 PG 1 WC Psychiatry SC Psychiatry GA V27VS UT WOS:000208641300334 ER PT J AU Calfa, G Percy, AK Pozzo-Miller, L AF Calfa, Gaston Percy, Alan K. Pozzo-Miller, Lucas TI Experimental models of Rett syndrome based on Mecp2 dysfunction SO EXPERIMENTAL BIOLOGY AND MEDICINE LA English DT Review DE Rett syndrome; MeCP2; neurodevelopmental disorder; synapse; dendritic spine; hippocampus; BDNF ID CPG-BINDING PROTEIN-2; DIETARY CHOLINE SUPPLEMENTATION; RUBINSTEIN-TAYBI-SYNDROME; WILD-TYPE MECP2; MOUSE MODEL; METHYL-CPG; MENTAL-RETARDATION; HIPPOCAMPAL-NEURONS; NEUROTROPHIC FACTOR; SYNAPTIC PLASTICITY AB Rett syndrome (Rh) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetic transcription factor that binds methylated DNA. The clinical hallmarks include a period of apparently normal early development followed by a plateau and then subsequent frank regression. Impaired visual and aural contact often lead to an initial diagnosis of autism. The characterization of experimental models based on the loss-of-function of the mouse Mecp2 gene revealed that subtle changes in the morphology and function of brain cells and synapses have profound consequences on network activities that underlie critical brain functions. Furthermore, these experimental models have been used for successful reversals of RTT-like symptoms by genetic, pharmacological and environmental manipulations, raising hope for novel therapeutic strategies to improve the quality of life of RU individuals. C1 [Calfa, Gaston; Percy, Alan K.; Pozzo-Miller, Lucas] Univ Alabama, Civitan Int Res Ctr, Dept Neurobiol, Birmingham, AL 35294 USA. [Percy, Alan K.] Univ Alabama, Civitan Int Res Ctr, Dept Pediat, Birmingham, AL 35294 USA. [Percy, Alan K.] Univ Alabama, Civitan Int Res Ctr, Dept Neurol, Birmingham, AL 35294 USA. [Percy, Alan K.] Univ Alabama, Civitan Int Res Ctr, Dept Genet, Birmingham, AL 35294 USA. RP Pozzo-Miller, L (reprint author), Univ Alabama, Civitan Int Res Ctr, Dept Neurobiol, SHEL 1002,1825 Univ Blvd, Birmingham, AL 35294 USA. EM lucaspm@uab.edu FU NIH from NINDS [NS40593, NS057780, NS-065027]; NICHD [HD061222, HD38985]; IRSF; Civitan Foundation FX We thank Dr Carolyn Schanen for useful comments on the manuscript. The work was supported by NIH grants from NINDS (NS40593, NS057780, NS-065027) and NICHD (U54 grant HD061222 and IDDRC grant HD38985), IRSF, and the Civitan Foundation. 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Biol. Med. PD JAN PY 2011 VL 236 IS 1 BP 3 EP 19 DI 10.1258/ebm.2010.010261 PG 17 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 757XR UT WOS:000290122500003 PM 21239731 ER PT J AU Dogan, Y Yuksel, A Kalelioglu, IH Has, R Tatli, B Yildirim, A AF Dogan, Y. Yuksel, A. Kalelioglu, I. H. Has, R. Tatli, B. Yildirim, A. TI Intracranial Ultrasound Abnormalities and Fetal Cytomegalovirus Infection: Report of 8 Cases and Review of the Literature SO FETAL DIAGNOSIS AND THERAPY LA English DT Review DE Amniotic fluid sampling; Congenital infections; Cytomegalovirus; Maternal serology; Polymerase chain reaction; Prenatal diagnosis; Ultrasonography ID VIRUS INFECTION; PRENATAL-DIAGNOSIS; ULTRASONOGRAPHIC DIAGNOSIS; SONOGRAPHIC FINDINGS; MATERNAL INFECTION; PREGNANT-WOMEN; HEMORRHAGE; BRAIN; FETUS; IMMUNITY AB Objectives: The aim of this study was to evaluate fetal intracranial and other ultrasonographic findings in cytomegalovirus (CMV) infection. Methods: Data on amniotic fluid CMV-DNA-PCR-positive pregnancies detected in our institution between January 2006 and June 2009 were reviewed retrospectively. Fetal biometric measurements, fetal anatomy, amniotic fluid volume, placental thickness and texture were analyzed for abnormalities. Results: Eight fetuses were diagnosed with congenital CMV infection during the study interval. Their mean gestational age at diagnosis was 25.8 weeks (range: 23-29). All fetuses had intracranial abnormalities; increased periventricular echogenicity (n = 7), ventriculomegaly (n = 5), intracranial calcifications (n = 4), intraventricular adhesions (n = 4), thalamic hyperechogenicity (n = 3), mega cisterna magna (n = 3), lissencephaly (n = 2), vermian defect (n = 2) and cerebellar cyst (n = 1). All of them had accompanying extracranial findings, including hyperechogenic bowel (n = 6), cardiomegaly (n = 3), pericardial effusion (n = 2) and hepatosplenomegaly (n = 1). Intrauterine growth retardation was detected in 3 cases. Five pregnancies were terminated, and 1 intrauterine death occurred. The remaining 2 delivered vaginally at term. One of the live-born babies suffers from tetraparesis, mental retardation and autism, and the other has mild hemiplegia. Conclusions: The spectrum of sonographic findings may vary widely in patients with congenital CMV infection in the prenatal period. CMV should be kept in mind in differential diagnosis, particularly in fetuses with intracranial sonographic findings such as ventriculomegaly, calcifications, intraventricular adhesions and increased periventricular echogenicity. Copyright (C) 2011 S. Karger AG, Basel C1 [Dogan, Y.; Yuksel, A.; Kalelioglu, I. H.; Has, R.; Yildirim, A.] Istanbul Univ, Istanbul Fac Med, Dept Obstet & Gynecol, TR-34093 Istanbul, Turkey. [Tatli, B.] Istanbul Univ, Istanbul Fac Med, Dept Pediat, TR-34093 Istanbul, Turkey. RP Dogan, Y (reprint author), Istanbul Univ, Istanbul Fac Med, Dept Obstet & Gynecol, TR-34093 Istanbul, Turkey. 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These responses include normalization of heightened audiogenic seizure susceptibility and of hyperactive locomotor behavior, enhancement of passive avoidance learning retention and of sociability behaviors, and corrections of macroorchidism, neuronal spine density, and neural plasticity measured electrophysiologically as long term depression. A pilot clinical trial of lithium in patients with FXS also found improvements in several measures of behavior. Taken together, these findings indicate that lithium and other inhibitors of GSK3 are promising candidate therapeutic agents for treating FXS. C1 [Mines, Marjelo A.; Jope, Richard S.] Univ Alabama Birmingham, Dept Psychiat & Behav Neurobiol, Birmingham, AL 35294 USA. RP Jope, RS (reprint author), Univ Alabama Birmingham, Dept Psychiat, 1720 Seventh Ave South,SC1057, Birmingham, AL 35294 USA. EM jope@uab.edu FU FRAXA Foundation; NIMH [MH038752, MH092970] FX Research in the authors' laboratory was funded by grants from the FRAXA Foundation and the NIMH (MH038752 and MH092970). 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Molec. Neurosci. PY 2011 VL 4 AR 35 DI 10.3389/fnmol.2011.00035 PG 8 WC Neurosciences SC Neurosciences & Neurology GA V38VE UT WOS:000209370100032 PM 22053151 ER PT J AU Fields, C AF Fields, Chris TI Trajectory recognition as the basis for object individuation: a functional model of object file instantiation and object-token encoding SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE object file; object persistence; visuomotor representation; dorsal stream; visual short-term memory; binding; categorization; autism spectrum disorders AB The perception of persisting visual objects is mediated by transient intermediate representations, object files, that are instantiated in response to some, but not all, visual trajectories. The standard object file concept does not, however, provide a mechanism sufficient to account for all experimental data on visual object persistence, object tracking, and the ability to perceive spatially disconnected stimuli as continuously existing objects. Based on relevant anatomical, functional, and developmental data, a functional model is constructed that bases visual object individuation on the recognition of temporal sequences of apparent center-of-mass positions that are specifically identified as trajectories by dedicated "trajectory recognition networks" downstream of the medial-temporal motion-detection area. This model is shown to account for a wide range of data, and to generate a variety of testable predictions. Individual differences in the recognition, abstraction, and encoding of trajectory information are expected to generate distinct object persistence judgments and object recognition abilities. Dominance of trajectory information over feature information in stored object tokens during early infancy, in particular, is expected to disrupt the ability to re-identify human and other individuals across perceptual episodes, and lead to developmental outcomes with characteristics of autism spectrum disorders. RP Fields, C (reprint author), Apdo 363-4013, Atenas 20501, Costa Rica. 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Psychol. PY 2011 VL 2 AR 49 DI 10.3389/fpsyg.2011.00049 PG 12 WC Psychology, Multidisciplinary SC Psychology GA V31DG UT WOS:000208863700061 PM 21716599 ER PT J AU Milne, E AF Milne, Elizabeth TI Increased intra-participant variability in children with autistic spectrum disorders: evidence from single-trial analysis of evoked EEG SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE autism; EEG; variability; perception; noise; synchrony; alpha; phase-locking AB Intra-participant variability in clinical conditions such as autistic spectrum disorder (ASD) is an important indicator of pathophysiological processing. The data reported here illustrate that trial-by-trial variability can be reliably measured from EEG, and that intra-participant EEG variability is significantly greater in those with ASD than in neuro-typical matched controls. EEG recorded at the scalp is a linear mixture of activity arising from muscle artifacts and numerous concurrent brain processes. To minimize these additional sources of variability, EEG data were subjected to two different methods of spatial filtering. (i) The data were decomposed using infomax independent component analysis, a method of blind source separation which un-mixes the EEG signal into components with maximally independent time-courses, and (ii) a surface Laplacian transform was performed (current source density interpolation) in order to reduce the effects of volume conduction. Data are presented from 13 high functioning adolescents with ASD without co-morbid ADHD, and 12 neuro-typical age-, IQ-, and gender-matched controls. Comparison of variability between the ASD and neuro-typical groups indicated that intra-participant variability of P1 latency and P1 amplitude was greater in the participants with ASD, and inter-trial a-band phase coherence was lower in the participants with ASD. 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Psychol. PY 2011 VL 2 AR 51 DI 10.3389/fpsyg.2011.00051 PG 12 WC Psychology, Multidisciplinary SC Psychology GA V31DG UT WOS:000208863700063 PM 21716921 ER PT J AU Ronald, A Pennell, CE Whitehouse, AJO AF Ronald, Angelica Pennell, Craig E. Whitehouse, Andrew J. O. TI Prenatal maternal stress associated with ADHD and autistic traits in early childhood SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE prenatal; stress; ADHD; autism; autistic traits; Raine Study AB Research suggests that offspring of mothers who experience high levels of stress during pregnancy are more likely to have problems in neurobehavioral development. There is preliminary evidence that prenatal maternal stress (PNMS) is a risk factor for both autism and attention deficit hyperactivity disorder (ADHD), however most studies do not control for confounding factors and no study has investigated PNMS as a risk factor for behaviors characteristic of these disorders in early childhood. A population cohort of 2900 pregnant women were recruited before their 18th week of pregnancy and investigated prospectively. Maternal experience of stressful life events was assessed during pregnancy. When offspring were age 2 years, mothers completed the child behavior checklist. Multiple regression showed that maternal stressful events during pregnancy significantly predicted ADHD behaviors in offspring, after controlling for autistic traits and other confounding variables, in both males (p = 0.03) and females (p = 0.01). Similarly, stressful events during pregnancy significantly predicted autistic traits in the offspring after controlling for ADHD behaviors and confounding variables, in males only (p = 0.04). 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Res. Pract. PY 2011 AR 161358 DI 10.1155/2011/161358 PG 8 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA 867BC UT WOS:000298428900001 ER PT J AU Chen, CP Lin, SP Tsai, FJ Chern, SR Wu, PC Lee, CC Lee, MS Chen, YT Wang, W AF Chen, C. -P. Lin, S. -P Tsai, F. -J. Chern, S. -R. Wu, P-C. Lee, C-C. Lee, M-S. Chen, Y-T Wang, W. TI CONGENITAL TRACHEAL STENOSIS IN A BOY WITH THE 22q13.3 DELETION SYNDROME SO GENETIC COUNSELING LA English DT Letter ID AUTISM SPECTRUM; SPEECH; SHANK3 C1 [Chen, C. -P.; Wu, P-C.; Lee, C-C.; Lee, M-S.] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan. [Chen, C. -P.; Lin, S. -P; Chern, S. -R.; Chen, Y-T; Wang, W.] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan. [Chen, C. -P.] Asia Univ, Dept Biotechnol, Taichung, Taiwan. [Chen, C. -P.] China Med Univ, Sch Chinese Med, Coll Chinese Med, Taichung, Taiwan. [Chen, C. -P.; Tsai, F. -J.] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan. [Chen, C. -P.] Natl Yang Ming Univ, Dept Obstet & Gynecol, Sch Med, Taipei 112, Taiwan. [Chen, C. -P.] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan. [Lin, S. -P] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan. [Lin, S. -P] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan. [Tsai, F. -J.] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan. RP Chen, CP (reprint author), Mackay Mem Hosp, Dept Obstet & Gynecol, 92,Sect 2,Chung Shan N Rd, Taipei, Taiwan. EM cpc_mmh@yahoo.com CR Cusmano-Ozog K, 2007, AM J MED GENET C, V145C, P393, DOI 10.1002/ajmg.c.30155 Durand CM, 2007, NAT GENET, V39, P25, DOI 10.1038/ng1933 Havens JM, 2004, CLIN PEDIATR, V43, P43, DOI 10.1177/000992280404300106 Manning MA, 2004, PEDIATRICS, V114, P451, DOI 10.1542/peds.114.2.451 Phelan MC, 2008, ORPHANET J RARE DIS, V3, DOI 10.1186/1750-1172-3-14 Wilson HL, 2008, EUR J HUM GENET, V16, P1301, DOI 10.1038/ejhg.2008.107 Wilson HL, 2003, J MED GENET, V40, P575, DOI 10.1136/jmg.40.8.575 NR 7 TC 0 Z9 0 PU MEDECINE ET HYGIENE PI CHENE-BOURG PA CH DE LA MOUSSE 46, CASE POSTALE 475, CH-1225 CHENE-BOURG, SWITZERLAND SN 1015-8146 J9 GENET COUNSEL JI Genet. Couns. PY 2011 VL 22 IS 1 BP 79 EP 83 PG 5 WC Biotechnology & Applied Microbiology; Genetics & Heredity; Medical Ethics; Medicine, Research & Experimental SC Biotechnology & Applied Microbiology; Genetics & Heredity; Medical Ethics; Research & Experimental Medicine GA 753FE UT WOS:000289751600012 PM 21614993 ER PT J AU Strehle, EM AF Strehle, E. M. TI DYSMORPHOLOGICAL AND PHARMACOLOGICAL STUDIES IN 4q-SYNDROME SO GENETIC COUNSELING LA English DT Article DE 4q-syndrome; 4q deletion syndrome; Dysmorphology; Pharmacology; Drug treatment; Food supplement; Therapy ID DELETION SYNDROME; ARRAY-CGH; CHILDREN; PROBIOTICS; SUPPLEMENTATION; PHENOTYPE; AUTISM; GROWTH; 4Q; COENZYME-Q10 AB Dysmorphological and pharmacological studies in 4q- syndrome: The 4q- syndrome includes interstitial and terminal deletions of the long arm of chromosome 4. In this study 22 children with 4q- were evaluated through face-to-face assessments and/or two-dimensional digital photographs. In addition, 15 parents participated in a questionnaire survey regarding pharmacological and other treatments which their affected child received. A high forehead was seen in 73% of index cases and was the only facial feature consistently present in this group. There may be a link between this phenotypic characteristic and the increased incidence of autistic spectrum disorder in 4q deletion syndrome (33%). Two thirds of the subjects were taking long term prescription drugs and/or food supplements. Commonly used nutritional supplements were multivitamins, carnitine, coenzyme Q10 and omega-3 fatty acids. They were well tolerated by the probands but the literature evidence for their specific effectiveness was weak. Twelve out of 15 children had speech and language therapy, occupational therapy or physiotherapy, and 6/15 regularly saw a psychologist. Future 4q- research should focus on gene-phenotype correlations, 3D face analysis and drug treatment to improve global and medical functioning. C1 [Strehle, E. M.] Newcastle Hosp NHS Fdn Trust, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England. [Strehle, E. M.] Newcastle Univ, Fac Med Sci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. RP Strehle, EM (reprint author), N Tyneside Gen Hosp, Dept Paediat, N Shields NE29 8NH, England. 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PY 2011 VL 22 IS 2 BP 173 EP 185 PG 13 WC Biotechnology & Applied Microbiology; Genetics & Heredity; Medical Ethics; Medicine, Research & Experimental SC Biotechnology & Applied Microbiology; Genetics & Heredity; Medical Ethics; Research & Experimental Medicine GA 796JB UT WOS:000293046500007 PM 21848010 ER PT J AU Colak, D Al-Dhalaan, H Nester, M AlBakheet, A Al-Younes, B Al-Hassnan, Z Al-Dosari, M Chedrawi, A Al-Owain, M AbuDheim, N Al-Alwan, L Al-Odaib, A Ozand, P Inan, MS Kaya, N AF Colak, Dilek Al-Dhalaan, Hesham Nester, Michael AlBakheet, AlBandary Al-Younes, Banan Al-Hassnan, Zohair Al-Dosari, Mohammad Chedrawi, Aziza Al-Owain, Muhammad AbuDheim, Nada Al-Alwan, Laila Al-Odaib, Ali Ozand, Pinar Inan, Mehmet Sait Kaya, Namik TI Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways SO GENOMICS LA English DT Article DE Rett; Rett-like; RTT; MECP2; NTNG1; CDKL5; MBD2; FOXG1; Mutation analysis; mtDNA sequencing; Copy number; Microarray; Genome-wide gene expression profiling; Functional pathway analysis; Genes related to Rett phenotype ID HUMAN MITOCHONDRIAL GENOME; AUTISM SPECTRUM DISORDERS; LEMLI-OPITZ-SYNDROME; GENE-EXPRESSION; MENTAL-RETARDATION; OLIGONUCLEOTIDE ARRAYS; SYNAPTIC PLASTICITY; CELL MORPHOLOGY; BRAIN; MECP2 AB Rett syndrome (RU) is an X-linked neurodevelopmental disorder characterized by derangements in nervous system especially in cognition and behavior. The present study aims to understand the molecular underpinnings of two subtypes of RTT, classic RU and Rett-like, and to elucidate common pathways giving rise to common RU phenotype using genomic and transcriptomic approaches. Mutation screening on selected nuclear genes revealed only MECP2 mutations in a subset of classic RU patients. MLPA assays and mtDNA screenings were all negative. Genome-wide copy number analysis indicated a novel duplication on X chromosome. Transcriptional profiling revealed blood gene signatures that clearly distinguish classic RU and RTT-like patients, as well as shared altered pathways in interleukin-4 and NF-kappa B signaling pathways in both subtypes of the syndrome. To our knowledge, this is the first report on investigating common regulatory mechanisms/signaling pathways that may be relevant to the pathobiology of the "common RTT' phenotype. (C) 2010 Elsevier Inc. All rights reserved. C1 [AlBakheet, AlBandary; Al-Younes, Banan; AbuDheim, Nada; Al-Alwan, Laila; Al-Odaib, Ali; Ozand, Pinar; Kaya, Namik] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia. [Colak, Dilek; Al-Dosari, Mohammad; Chedrawi, Aziza] King Faisal Specialist Hosp & Res Ctr, Dept Biostat Epidemiol & Sci Comp, Riyadh 11211, Saudi Arabia. [Al-Dhalaan, Hesham; Nester, Michael] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia. [Al-Hassnan, Zohair; Al-Owain, Muhammad] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia. RP Kaya, N (reprint author), King Faisal Specialist Hosp & Res Ctr, Dept Genet, MBC 03, Riyadh 11211, Saudi Arabia. EM nkaya@kfshrc.edu.sa FU KFSHRC FX Authors wish to thank the patients and family members for their participation in this study and extend our appreciation to KFSHRC for financial support and KFSHRC research advisory council for their kind approval of this project. We also wish to extend our special thanks to Mohamed M Shoukri for help and discussions. Authors also would like to acknowledge efforts of late Dr. Mehmet S. Inan for this study and would like to dedicate this work to his memory. 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TI Empirical Investigation of Twice-Exceptionality: Where Have We Been and Where Are We Going? SO GIFTED CHILD QUARTERLY LA English DT Article DE identification; twice-exceptional; assessment ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY DISORDER; LEARNING-DISABLED STUDENTS; MGH LONGITUDINAL FAMILY; HIGH-FUNCTIONING AUTISM; HIGH-ABILITY STUDENTS; GIFTED STUDENTS; HIGH-IQ; ASPERGERS-DISORDER; VALID DIAGNOSIS AB Gifted students with coexisting disabilities, also known as twice-exceptional, are increasingly recognized in America's schools. This increasing awareness needs to be met with equal enthusiasm for empirical investigation into the identification and treatment needs of this group of students. In this article, a 20-year review of the empirical literature examining twiceexceptionality, specifically gifted students with learning disabilities, attention deficit hyperactivity disorder, or autism spectrum disorder, was conducted. Research strongly suggests that gifted students can have a coexisting disability and that comprehensive, individualized approaches toward diagnosis are necessary. Less is known about effective treatments and interventions that simultaneously highlight strengths and accommodate for areas of growth. Future research directions are offered that ideally will encourage scholars to discover more about effective diagnostic and intervention techniques for this very important group of gifted learners. df C1 [Nicpon, Megan Foley] Univ Iowa, Belin Blank Ctr Gifted Educ & Talent Dev, Coll Educ, Counseling Psychol Program, Iowa City, IA 52242 USA. RP Nicpon, MF (reprint author), Univ Iowa, Belin Blank Ctr Gifted Educ & Talent Dev, Coll Educ, Counseling Psychol Program, 600 Blank Honors Ctr, Iowa City, IA 52242 USA. 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PD JAN PY 2011 VL 55 IS 1 BP 3 EP 17 DI 10.1177/0016986210382575 PG 15 WC Education, Special; Psychology, Educational SC Education & Educational Research; Psychology GA 695ER UT WOS:000285353900001 ER PT J AU Lin, ST Yang, PC Lai, CY Su, YY Yeh, YC Huang, MF Chen, CC AF Lin, Shuai-Ting Yang, Pinchen Lai, Chien-Yu Su, Yu-Yun Yeh, Yi-Chun Huang, Mei-Feng Chen, Cheng-Chung TI Mental Health Implications of Music: Insight from Neuroscientific and Clinical Studies SO HARVARD REVIEW OF PSYCHIATRY LA English DT Article DE mental health; music; music therapy; neuroscience; psychiatry ID RANDOMIZED CONTROLLED-TRIAL; ALZHEIMERS-DISEASE; SLEEP QUALITY; IMPROVE SLEEP; FRONTAL EEG; THERAPY; BRAIN; DEMENTIA; SCHIZOPHRENIA; DEPRESSION AB Neuroscientific and clinical studies of music over the past two decades have substantially increased our understanding of its use as a means of therapy. The authors briefly review current literature related to music's effect on people with different mental illnesses, and examine several neurobiological theories that may explain its effectiveness or lack thereof in treating psychiatric disorders. Neuroscientific studies have shown music to be an agent capable of influencing complex neurobiological processes in the brain and suggest that it can potentially play an important role in treatment. Clinical studies provide some evidence that music therapy can be used as an alternative therapy in treating depression, autism, schizophrenia, and dementia, as well as problems of agitation, anxiety, sleeplessness, and substance misuse, though whether it can actually replace other modes of treatment remains undetermined. Future research should include translational studies involving both neuroscience and clinical medicine that investigate the long-term effects of music intervention and that lead to the development of new strategies for music therapy. (HARV REV PSYCHIATRY 2011;19:34-46.) C1 [Lin, Shuai-Ting; Huang, Mei-Feng; Chen, Cheng-Chung] Kaohsiung Kai Suan Psychiat Hosp, Dept Psychiat, Kaohsiung 802, Taiwan. [Lin, Shuai-Ting; Yang, Pinchen; Lai, Chien-Yu; Su, Yu-Yun; Yeh, Yi-Chun; Chen, Cheng-Chung] Kaohsiung Med Univ Hosp, Dept Psychiat, Kaohsiung, Taiwan. [Lai, Chien-Yu] Kaohsiung Med Univ Hosp, Dept Nursing, Kaohsiung, Taiwan. [Yang, Pinchen; Yeh, Yi-Chun; Huang, Mei-Feng; Chen, Cheng-Chung] Kaohsiung Med Univ, Coll Med, Dept Psychiat, Kaohsiung, Taiwan. RP Lin, ST (reprint author), Kaohsiung Kai Suan Psychiat Hosp, Dept Psychiat, 130 Kai Suan 2nd Rd, Kaohsiung 802, Taiwan. 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PY 2011 VL 32 IS 8 BP 708 EP 722 DI 10.1080/07399332.2011.555830 PG 15 WC Public, Environmental & Occupational Health; Women's Studies SC Public, Environmental & Occupational Health; Women's Studies GA 887TX UT WOS:000299954500005 PM 21767096 ER PT J AU Tobak, O Balogh, M Lampek, K AF Tobak, Orsolya Balogh, Monika Lampek, Kinga TI The analisys of the syndroms appearing among children living with autism in Hungary SO HEALTHMED LA English DT Article DE Autism; health visitor; symptoms; health care AB Present results are part of an overall exploratory research dealing with the quality of life in the families bringing up children with autism, which aims to support the effectiveness of health visitor (Hungarian specialty) nursing care. Our goal was to map the symptoms, which can be the basis of a professional guideline for health visitors and professional nurses. During our research among families in Hungary raising children living with autism 276 families were asked by a questionnaire. The age of the children were between 3-18. The qualitative data collection occurred in three focus groups (parents, autism specialists and health visitors), some elements of which are described in the study. No similar social-demographic background can be recorded among the examined families, all of them have to face many challenges with only a very little help. The appearance and the frequency of the symptoms are the same as mentioned in the literature. They have different expectations toward the professionals taking care of them, which are presented in this study in details. C1 [Tobak, Orsolya] Univ Szeged, Fac Social & Hlth Sci, Hlth Visitor Labor & Methodol Dept, Szeged, Hungary. [Balogh, Monika] Univ Szeged, Pedag PhD Sch, Szeged, Hungary. [Lampek, Kinga] Univ Pecs, Fac Hlth Sci, Inst Hlth Insurance, Dept Hlth Promot, Pecs, Hungary. RP Tobak, O (reprint author), Univ Szeged, Fac Social & Hlth Sci, Hlth Visitor Labor & Methodol Dept, Szeged, Hungary. EM tobako@etszk.u-szeged.hu CR Banfalvy Cs, 2005, Szakkepzesi Szemle, V2, P180 Chikan Cs, 2001, Eselyegyenloseg, fogyatekossag Kopatakine Meszaros M, 2001, Uj Pedagogiai Szemle, V7-8, P20 Petri G, 2009, Autizmus - Tenyek - Kepek Ranschburg J, 1998, Pszichologiai rendellenessegek gyermekkorban Szabo L, 2003, [A boldogsag relativ-fogyatekossag es szubjektiv eletminoseg, Szociologiai szemle], V3, P86 NR 6 TC 0 Z9 0 PU DRUNPP-SARAJEVO PI SARAJEVO PA BOLNICKA BB, SARAJEVO, 71000, BOSNIA & HERCEG SN 1840-2291 J9 HEALTHMED JI HealthMED PY 2011 VL 5 IS 6 BP 1415 EP 1419 PG 5 WC Medicine, General & Internal SC General & Internal Medicine GA 870IV UT WOS:000298663500005 ER PT J AU Chapman, NH Estes, A Munson, J Bernier, R Webb, SJ Rothstein, JH Minshew, NJ Dawson, G Schellenberg, GD Wijsman, EM AF Chapman, Nicola H. Estes, Annette Munson, Jeff Bernier, Raphael Webb, Sara J. Rothstein, Joseph H. Minshew, Nancy J. Dawson, Geraldine Schellenberg, Gerard D. Wijsman, Ellen M. TI Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16 SO HUMAN GENETICS LA English DT Article ID QUANTITATIVE TRAIT LOCUS; PERVASIVE DEVELOPMENTAL DISORDER; HIGH-FUNCTIONING AUTISM; LANGUAGE IMPAIRMENT; LINKAGE ANALYSIS; SUSCEPTIBILITY LOCI; SPECTRUM DISORDER; WIDE SCAN; OLIGOGENIC SEGREGATION; SCREEN AB Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impairments, key parts of the autism diagnosis. We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype. We performed genome-wide joint linkage and segregation analyses on 287 multiplex families, using a Markov chain Monte Carlo approach. Genetic data included a genome-scan of 387 micro-satellite markers in 210 families augmented with additional markers added in a subset of families. Empirical P values were calculated for five interesting regions. Linkage analysis identified five chromosomal regions with substantial regional evidence of linkage; 10p12 [P = 0.001; genome-wide (gw) P = 0.05], 16q23 (P = 0.015; gw P = 0.53), 2p21 (P = 0.03, gw P = 0.78), 6q25 (P = 0.047, gw P = 0.91) and 15q23-25 (P = 0.053, gw P = 0.93). The location of the chromosome 10 linkage signal coincides with a region noted in a much earlier genome-scan for autism, and the chromosome 16 signal coincides exactly with a linkage signal for non-word repetition in specific language impairment. This study provides strong evidence for a QTL influencing IQ discrepancy in families with autistic individuals on chromosome 10, and suggestive evidence for a QTL on chromosome 16. The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD. C1 [Wijsman, Ellen M.] Stat Genet Lab, Seattle, WA 98195 USA. [Schellenberg, Gerard D.] Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA. [Dawson, Geraldine] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. [Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15261 USA. [Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA. [Wijsman, Ellen M.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. [Wijsman, Ellen M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Estes, Annette; Munson, Jeff; Bernier, Raphael; Webb, Sara J.] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Chapman, Nicola H.; Rothstein, Joseph H.; Wijsman, Ellen M.] Univ Washington, Dept Med, Seattle, WA USA. RP Wijsman, EM (reprint author), Stat Genet Lab, T15,4333 Brooklyn Ave NE, Seattle, WA 98195 USA. EM wijsman@u.washington.edu FU Autism Centers of Excellence [HD055782]; NIH [HHSN268200782096C]; Autism Genome Project FX Funding was provided by the Autism Centers of Excellence (HD055782). Some genotyping services were provided by the Center for Inherited Disease Research (CIDR), or supported by Autism Speaks, through collaboration with the Autism Genome Project. CIDR is funded through a federal contract from the NIH to The Johns Hopkins University, contract number HHSN268200782096C. We also gratefully acknowledge the contributions of the families who participated in this study, the contributions of the Clinical and Statistical Cores of the UW ACE for diagnostic and databasing support. The authors thank the anonymous reviewers for helpful comments that greatly improved this paper. 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TI Early differential diagnosis between autism spectrum disorders and ADHD SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Sinzig, J.; Morsch, D.; Bell, H.] Univ Cologne, Dept Child & Adolescent Psychiat, Cologne, Germany. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 38 EP 38 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800107 ER PT J AU Barton, M Berry, L Sutera, S Fein, D AF Barton, M. Berry, L. Sutera, S. Fein, D. TI Predictors of optimal outcome in young children diagnosed with an autism spectrum disorder. SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Barton, M.; Fein, D.] Univ Connecticut, Storrs, CT USA. [Berry, L.] Childrens Hosp Philadelphia, Philadelphia, PA USA. [Sutera, S.] Inst Living, Hartford, CT USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 39 EP 40 PG 2 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800112 ER PT J AU Wendland, J Serres, J Wendland, J Adrien, J AF Wendland, J. Serres, J. Wendland, J. Adrien, J. TI Very early social and motor disorders in autism: a new way for retrospective video analysis SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Wendland, J.; Serres, J.; Wendland, J.; Adrien, J.] Univ Paris 05, Paris, France. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 39 EP 39 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800111 ER PT J AU Sindelar, M Guiot, G AF Sindelar, M. Guiot, G. TI Music and autism in a classroom SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 57 EP 57 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800162 ER PT J AU Latva, R Luoma, I Salmelin, R Sorvali, T Kaukonen, P AF Latva, R. Luoma, I Salmelin, R. Sorvali, T. Kaukonen, P. TI Clinical use of play narratives of young children at risk for autism SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Latva, R.] Tampere Univ, FIN-33101 Tampere, Finland. [Latva, R.] Univ Hosp, Tampere, Finland. [Luoma, I; Sorvali, T.; Kaukonen, P.] Tampere Univ Hosp, Dept Child Psychiat, Tampere, Finland. [Salmelin, R.] Univ Tampere, FIN-33101 Tampere, Finland. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 87 EP 88 PG 2 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800245 ER PT J AU Sorvali, T Sorvali, T Latva, R Kaukonen, P Salmelin, R Luoma, I AF Sorvali, T. Sorvali, T. Latva, R. Kaukonen, P. Salmelin, R. Luoma, I TI Play narratives of children with autism spectrum disorders SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Kaukonen, P.] Tampere Univ Hosp, Dept Child Psychiat, Tampere, Finland. [Latva, R.] Tampere Univ, FIN-33101 Tampere, Finland. [Salmelin, R.] Univ Tampere, FIN-33101 Tampere, Finland. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 87 EP 87 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800244 ER PT J AU Senator, D AF Senator, D. TI The interplay of therapeutic interventions for children with autism as a support and challenge for parent-child attachment relationship SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 154 EP 155 PG 2 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800430 ER PT J AU Behl, D Carbone, P AF Behl, D. Carbone, P. TI The role of medical home in meeting the needs of young children with autism spectrum disorders and their families SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Carbone, P.] Univ Utah, Dept Pediat, Salt Lake City, UT 84112 USA. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 195 EP 195 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800543 ER PT J AU Cho, S Yoo, H Shin, M Kim, B Kim, J Kang, J Yang, Y Nam, B Cho, I Chung, U Park, T Son, J AF Cho, S. Yoo, H. Shin, M. Kim, B. Kim, J. Kang, J. Yang, Y. Nam, B. Cho, I Chung, U. Park, T. Son, J. TI Attention function in unaffected siblings of children with autism spectrum disorders SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Cho, S.; Shin, M.; Kim, B.; Kim, J.; Yang, Y.; Nam, B.] Seoul Natl Univ, Seoul 151, South Korea. [Yoo, H.; Kang, J.] Seoul Natl Univ, Bundang Hosp, Seoul 151, South Korea. [Cho, I] Gachon Univ Med & Sci, Inchon, South Korea. [Chung, U.] Kyungpook Natl Univ Hosp, Taegu, South Korea. [Park, T.; Son, J.] Chonbuk Natl Univ Hosp, Chonju, South Korea. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 195 EP 195 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611800542 ER PT J AU Wendland, J Jagodowicz, J Guedeney, A Adrien, J AF Wendland, J. Jagodowicz, J. Guedeney, A. Adrien, J. TI Social withdrawal behaviour and developmental profile in infants with high risk of autism spectrum disorders SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Wendland, J.; Jagodowicz, J.; Adrien, J.] Univ Paris 05, Paris, France. [Guedeney, A.] Bichat Claude Bernard Hosp, Paris, France. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 222 EP 222 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611801073 ER PT J AU Wendland, J Gautier, A Brisson, J Wolff, M Adrien, J AF Wendland, J. Gautier, A. Brisson, J. Wolff, M. Adrien, J. TI Sustained withdrawal behavior and early signs of autism: Preliminary results of a study on home movies SO INFANT MENTAL HEALTH JOURNAL LA English DT Meeting Abstract C1 [Wendland, J.; Gautier, A.; Brisson, J.; Wolff, M.; Adrien, J.] Univ Paris 05, Paris, France. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0163-9641 EI 1097-0355 J9 INFANT MENT HEALTH J JI Infant Ment. Health J. PY 2011 VL 31 IS 3 SU S BP 222 EP 222 PG 1 WC Psychology, Developmental SC Psychology GA V27KJ UT WOS:000208611801074 ER PT J AU Johnson, JL Brown, S Chang, CA Nelson, D Mrazek, S AF Johnson, Jean L. Brown, Susan Chang, Chuan Nelson, Dawna Mrazek, Susan TI The Cost of Serving Infants and Toddlers Under Part C SO INFANTS & YOUNG CHILDREN LA English DT Article DE autism; early intervention services; IDEA; infants and toddlers; natural environments; Part C costs ID EARLY INTERVENTION SERVICES; IMPACT AB To identify the per-child cost of providing Part C services, the authors analyzed extensive statewide expenditure data in Hawai'i to determine the monthly and annual costs of providing early intervention services to infants and toddlers and their families. Identified were the costs of serving children with various numbers and percentages of delay, the cost of providing care-coordination services, and the administrative costs for local-and state-level providers of Part C services. Furthermore, the data provided an opportunity to identify the cost of transportation in providing Part C services. The authors also analyzed the cost of serving 2 special populations of children: (1) children receiving Medicaid and (2) children with an autism-spectrum diagnosis. In addition to findings on costs, other significant findings emerged from the study. Two-thirds of the enrolled children had 3 or more significant delays. The cost of transportation consumed more than one-fourth of service expenditures. Children received on the average fewer than 3 hours of service per month. Overall administrative costs amounted to 41.4% of total program expenditures. Most surprising was that the state was spending less per child than it was a decade ago. The study provides previously unavailable information on the cost of early intervention services. C1 [Johnson, Jean L.; Chang, Chuan; Nelson, Dawna; Mrazek, Susan] Univ Hawaii, Ctr Disabil Studies, Honolulu, HI 96822 USA. [Brown, Susan] Hawaii Dept Hlth, Honolulu, HI USA. RP Johnson, JL (reprint author), Univ Hawaii, Ctr Disabil Studies, 1776 Univ Ave, Honolulu, HI 96822 USA. EM jeanj@hawaii.edu CR BARNETT WS, 2000, HDB EARLY CHILDHOOD, P549 BRUDER MB, 2009, ASS U CTR DIS WORKSH Center on the Developing Child at Harvard University, 2010, FDN LIF HLTH AR BUIL Centre on the Developing Child at Harvard University, 2007, SCI BAS FRAM EARL CH Conn-Powers MC, 2010, INFANT YOUNG CHILD, V23, P218, DOI 10.1097/IYC.0b013e3181e44714 Hallam RA, 2009, J EARLY INTERVENTION, V31, P179, DOI 10.1177/1053815109331914 Hebbeler K, 2009, INFANT YOUNG CHILD, V22, P76 Hebbeler K., 2007, EARLY INTERVENTION I HURTH J, 1998, SERVICE COORDINATION LEVIN J, 2004, NATL EARLY INTERVENT PARRISH T, 1999, UNIT COST STUD UNPUB ROBERTS RN, 2005, OUTCOMES BASED APPRO ROSENBERG S, 2010, ESTIMATES PERCENTAGE SHONKOFF JP, 1992, ZERO TO 3 B, V7, P7 THAYER N, 2010, ANN TECHN ASS M DIR Weinstein L., 2008, GUESSTIMATION SOLVIN NR 16 TC 5 Z9 5 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 0896-3746 J9 INFANT YOUNG CHILD JI Infants Young Child. PD JAN-MAR PY 2011 VL 24 IS 1 BP 101 EP 113 DI 10.1097/IYC.0b013e3182014c97 PG 13 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 695XQ UT WOS:000285406300008 ER PT J AU Stern, J AF Stern, Julian TI Disabled church - disabled society: the implications of autism for philosophy, theology and politics SO INTERNATIONAL JOURNAL OF CHILDRENS SPIRITUALITY LA English DT Book Review C1 [Stern, Julian] York St John Univ, York, N Yorkshire, England. RP Stern, J (reprint author), York St John Univ, York, N Yorkshire, England. EM j.stern@yorksj.ac.uk CR Buber M., 1958, THOU Buber M., 1998, KNOWLEDGE MAN SELECT CROSBY A, 2006, MATTHEW MEMOIR A CRO GILLIBRAND J, 2010, DISABLED CHURCH DISA Sacks J., 2003, DIGNITY DIFFERENCE A NR 5 TC 0 Z9 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 1364-436X J9 INT J CHILD SPIRITUA JI Int. J. Child. Spiritual. PY 2011 VL 16 IS 1 BP 64 EP 65 DI 10.1080/1364436X.2011.553473 PG 2 WC Religion SC Religion GA 750TB UT WOS:000289569800009 ER PT J AU Arese, M Serini, G Bussolino, F AF Arese, Marco Serini, Guido Bussolino, Federico TI Nervous vascular parallels: axon guidance and beyond SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY LA English DT Article DE semaphorin; neurexin; neuroligin ID NEURAL STEM-CELLS; SYNAPTIC VESICLE EXOCYTOSIS; AUTISM SPECTRUM DISORDER; CEREBRAL-BLOOD-FLOW; TUMOR ANGIOGENESIS; ENDOTHELIAL-CELLS; MOLECULAR REGULATION; EXCITATORY SYNAPSES; ADHESION MOLECULES; CHILDHOOD AUTISM AB The vascular and nervous systems are organized with well defined and accurate networks, which represent the anatomical structure enabling their functions. In recent years, it has been clearly demonstrated that these two systems share in common several mechanisms and specificities. For instance, the networking properties of the nervous and vascular systems are governed by common cues that in the brain regulate axon connections and in the vasculature remodel the primitive plexus towards the vascular tree. Here, we summarize the role of semaphorins as a paradigmatic example of the role of axon guidance molecules in physiological and pathological angiogenesis. Finally, we discuss the presence in blood vessels of neurexin and neuroligin, two proteins that finely modulate synaptic activity in the brain. This observation is suggestive of an intriguing new class of molecular and functional parallels between neurons and vascular cells. C1 [Arese, Marco; Serini, Guido; Bussolino, Federico] Univ Turin, Dept Oncol Sci, Candiolo, Italy. [Arese, Marco; Serini, Guido; Bussolino, Federico] Univ Turin, Inst Canc Res & Treatment, Candiolo, Italy. RP Arese, M (reprint author), Univ Turin, Dept Oncol Sci, Candiolo, Italy. EM marco.arese@ircc.it RI arese, marco/J-6119-2013 OI arese, marco/0000-0002-7384-9406 FU Associazione ltaliana per la Ricerca sul Cancro [10133, 9211]; Telethon Italy [GGP04127, GGP09175]; Compagnia di San Paolo; Fondazione Piemontese per la Ricerca sul Cancro - ONLUS; Ministero della Salute; Ricerca Finalizzata; Associazione Augusto per la Vita; Regione Piemonte; PRESTO; SPLASERBA; Technological Platforms for Biotechnology; DRUIDI; Converging Technologies; PHOENICS; BANP; CRT Foundation FX This work was supported by grant of Associazione ltaliana per la Ricerca sul Cancro (IG #10133) (to FB.), (IG #9211) (to G.S.); Telethon Italy (GGP04127 and GGP09175) (to G.S.); Compagnia di San Paolo - Neuroscience Program Multicentre Projects (to G. S.); Fondazione Piemontese per la Ricerca sul Cancro - ONLUS - Intramural Grant 2010 (to G.S.); Ministero della Salute - Programma Ricerca Oncologica 2006 and Ricerca Finalizzata 2006 (to G.S. and FB.), Associazione Augusto per la Vita (G. S.); Regione Piemonte (Finalized Health Research 2006, 2008 and 2009; Industrial Research and Precompetitive Development 2006: grants PRESTO and SPLASERBA; Technological Platforms for Biotechnology: grant DRUIDI; Converging Technologies: grant PHOENICS; Industrial Research 2009: grant BANP) (to FB. and G. S.).; CRT Foundation (to B.). 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J. Dev. Biol. PY 2011 VL 55 IS 4-5 SI SI BP 439 EP 445 DI 10.1387/ijdb.103242ma PG 7 WC Developmental Biology SC Developmental Biology GA 831RH UT WOS:000295748300013 PM 21858769 ER PT J AU Leong, HM Stephenson, J Carter, M AF Leong, Han Ming Stephenson, Jennifer Carter, Mark TI The Use of Sensory Integration Therapy by Intervention Service Providers in Malaysia SO INTERNATIONAL JOURNAL OF DISABILITY DEVELOPMENT AND EDUCATION LA English DT Article DE sensory integration therapy; evidence-based practice; educational practices; teacher behaviour; teaching methods; theory-practice relationship; intervention; developing nations; Malaysia ID AUTISM SPECTRUM DISORDERS; LEARNING-DISABILITIES; OCCUPATIONAL-THERAPY; CHILDREN; MANAGEMENT; CRITIQUE; BEHAVIOR AB Sensory integration (SI) therapy is a controversial intervention used in intervention for children with disabilities that is popular in the United States. Little is known about the use of SI therapy for children with disabilities in educational centres in developing nations such as Malaysia. Supervisors and teachers from seven educational intervention centres in city-centre areas in Malaysia were interviewed on their use of SI therapy. Occupational therapists were found to have a major influence on the decision to use SI therapy by the interviewees. It was also found that SI therapy was implemented in a limited manner in these centres and that one of the primary factors that motivated teachers to use SI therapy was the perception that students' behaviours were associated with sensory stimulation. Implications for evidence-based decision-making in developing countries are discussed. C1 [Leong, Han Ming; Stephenson, Jennifer; Carter, Mark] Macquarie Univ, Special Educ Ctr, N Ryde, NSW 2109, Australia. RP Leong, HM (reprint author), Macquarie Univ, Special Educ Ctr, N Ryde, NSW 2109, Australia. 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A subject worthy of more research SO INTERNATIONAL JOURNAL OF HYPERTHERMIA LA English DT Article DE Clinical; hyperthermia; neurotransmitter; treatment ID SPECTRUM DISORDERS; BLOOD GLUTAMATE; CENTRAL MECHANISM; RETT-SYNDROME; HYPERTHERMIA; CHILDREN; RELEASE AB Autism is neuropsychiatric disorder in which a hyperglutamate state may play a role. It is suggested here that fever or hyperthermia may be able to alter glutamate levels in the brain and may therefore be able to impact on the symptoms of autism. More study on this possibility is clearly warranted. C1 Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Dept Psychiat, Hafez Hosp, Shiraz, Iran. RP Ghanizadeh, A (reprint author), Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Dept Psychiat, Hafez Hosp, Shiraz, Iran. 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J. Hyperthermia PY 2011 VL 27 IS 7 BP 737 EP 738 DI 10.3109/02656736.2011.604665 PG 2 WC Oncology; Radiology, Nuclear Medicine & Medical Imaging SC Oncology; Radiology, Nuclear Medicine & Medical Imaging GA 832JC UT WOS:000295799800011 PM 21967199 ER PT J AU Ravet, J AF Ravet, Jackie TI Inclusive/exclusive? Contradictory perspectives on autism and inclusion: the case for an integrative position SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION LA English DT Article DE inclusion; autism; special needs; labelling; special pedagogies ID DISABILITY; EDUCATION; CHILDREN AB This paper explores some of the tensions that frequently arise in debates about inclusion and the education of children and young people on the autism spectrum. This debate is often characterised by bipolar thinking and moral posturing, and is obscured by misunderstandings and omissions. This can create confusion for practitioners trying their best to support learners on the spectrum in inclusive classrooms, and does much harm to the inclusion project. This paper identifies some of the recurring entanglements that obfuscate the debate. The main thesis of the paper is that the effective inclusion of children and young people on the autism spectrum requires practitioners to question two dominant and contradictory perspectives within the inclusion literature - the rights-based perspective and the needs-based perspective - which, arguably, polarise thinking at the theoretical level and inclusive practice at classroom level. The specific aim of the paper is to identify oppositional views on labelling and special pedagogies within these two perspectives and critically explore their implications for teachers supporting learners on the autism spectrum. The possibility of an integrative inclusionist position is tentatively explored. C1 Univ Aberdeen, Univ London Kings Coll, Sch Educ, Aberdeen AB24 5UA, Scotland. RP Ravet, J (reprint author), Univ Aberdeen, Univ London Kings Coll, Sch Educ, MacRobert Bldg, Aberdeen AB24 5UA, Scotland. 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J. Incl. Educ. PY 2011 VL 15 IS 6 BP 667 EP 682 DI 10.1080/13603110903294347 PG 16 WC Education & Educational Research SC Education & Educational Research GA 887NV UT WOS:000299935800005 ER PT J AU Anthony, J AF Anthony, Jane TI Conceptualising disability in Ghana: implications for EFA and inclusive education SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION LA English DT Article DE Ghana; autism; inclusion; disability; culture; internationalisation; Education for All AB The Ghanaian government has recently ratified its commitment to Education for All (EFA) and to reaching marginalised students through inclusive education. This article critically examines the often conflicting demands of internationally driven initiatives and their subsequent interpretation and implementation in a disparate culture. A controversial debate juxtaposes conceptualisations of disability as rooted in social injustice with positions which see disability as an impairment located within the individual. Critically, divergent conceptualisations of disability carry political implications for educational policies and provision. It is argued that meaningful educational opportunities for students with autism in Ghana are limited by this dichotomy of thinking and must be re-conceptualised to account for both the interaction between individual and societal barriers as well as local understandings of disability. Conceptualisations of disability, as entrenched in Ghanaian cultural beliefs, norms and history are explored alongside the implications of these beliefs in designing and implementing national educational policies for students with intellectual disabilities as well as the socio-political pressures to adhere to large-scale international movements such as EFA and inclusive education (IE). C1 Univ Sussex, Ctr Int Educ, Brighton, E Sussex, England. RP Anthony, J (reprint author), Univ Sussex, Ctr Int Educ, Brighton, E Sussex, England. 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PY 2011 VL 15 IS 10 SI SI BP 1073 EP 1086 DI 10.1080/13603116.2011.555062 PG 14 WC Education & Educational Research SC Education & Educational Research GA 887OG UT WOS:000299936900003 ER PT J AU Timmer, SMH AF Timmer, S. M. H. TI Autism 24/7, self management 24/7 SO INTERNATIONAL JOURNAL OF INTEGRATED CARE LA English DT Meeting Abstract DE e-health; health2.0; autism; autismecare2.0; self management; life course guidence EM s.timmer@leokannerhuis.nl NR 0 TC 0 Z9 0 PU IGITUR, UTRECHT PUBLISHING & ARCHIVING SERVICES PI URTRECHT PA POSTBUS 80124, URTRECHT, 3508 TC, NETHERLANDS SN 1568-4156 J9 INT J INTEGR CARE JI Int. J. Integr. Care PY 2011 VL 11 SI 2 PG 1 WC Health Care Sciences & Services; Health Policy & Services SC Health Care Sciences & Services GA 049TD UT WOS:000312005400033 ER PT J AU van den Hof, E AF van den Hof, Edwin TI Online education autism for parents and digital coaching for adolescents with autism SO INTERNATIONAL JOURNAL OF INTEGRATED CARE LA English DT Meeting Abstract DE digital coach; autism; mobile support; empowerment; online psycho education EM e.vandenhof@leokannerhuis.nl NR 0 TC 0 Z9 0 PU IGITUR, UTRECHT PUBLISHING & ARCHIVING SERVICES PI URTRECHT PA POSTBUS 80124, URTRECHT, 3508 TC, NETHERLANDS SN 1568-4156 J9 INT J INTEGR CARE JI Int. J. Integr. Care PY 2011 VL 11 SI 2 PG 1 WC Health Care Sciences & Services; Health Policy & Services SC Health Care Sciences & Services GA 049TD UT WOS:000312005400044 ER PT J AU Vervaet, MCC AF Vervaet, M. C. C. TI Stress meter for people with Autism Spectrum Disorder (ASD) to visualize and anticipate on their stress level SO INTERNATIONAL JOURNAL OF INTEGRATED CARE LA English DT Meeting Abstract DE stress; stressmeter; heart rate variability; digital coach; autism spectrum disorder EM m.vervaet@leokannerhuis.nl NR 0 TC 0 Z9 0 PU IGITUR, UTRECHT PUBLISHING & ARCHIVING SERVICES PI URTRECHT PA POSTBUS 80124, URTRECHT, 3508 TC, NETHERLANDS SN 1568-4156 J9 INT J INTEGR CARE JI Int. J. Integr. Care PY 2011 VL 11 SI 2 PG 1 WC Health Care Sciences & Services; Health Policy & Services SC Health Care Sciences & Services GA 049TD UT WOS:000312005400055 ER PT J AU Nuske, HJ Bavin, EL AF Nuske, Heather Joy Bavin, Edith L. TI Narrative comprehension in 4-7-year-old children with autism: testing the Weak Central Coherence account SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS LA English DT Article DE autism; narrative; language ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ASPERGERS-SYNDROME; INDIVIDUALS; ADULTS; MIND; ADOLESCENTS; INFORMATION; PERFORMANCE; LANGUAGE AB Background: Despite somewhat spared structural language development in high-functioning autism, communicative comprehension deficits persist. Comprehension involves the integration of meaning: global processing is required. The Weak Central Coherence theory suggests that individuals with autism are biased to process information locally. This cognitive style may impair comprehension, particularly if inferencing is required. However, task performance may be facilitated by this cognitive style if local processing is required. Aims: The current study was designed to examine the extent to which the 'weak central coherence' cognitive style affects comprehension and inferential processing of spoken narratives. The children with autism were expected to perform comparatively poorer on inferences relating to event scripts and comparatively better on inferences requiring deductive reasoning. Methods & Procedures: Fourteen high-functioning children with autism were recruited from databases of various autism organizations (mean age = 6:7, 13 males, one female) and were matched on a receptive vocabulary and a picture-completion task with 14 typically developing children recruited from a local childcare centre (mean age = 4:10, seven males, seven females). The children were read short stories and asked questions about the stories. Outcomes & Results: Results indicated that the children with autism were less able to make inferences based on event scripts, but the groups did not differ significantly on inferences requiring deductive logical reasoning. Despite similar group performance on questions relating to the main idea of the stories, only for the typically developing group was good performance on extracting the main idea of the narratives significantly correlated with performance on all other comprehension tasks. Conclusions & Implications: Findings provide some support for the Weak Central Coherence theory and demonstrate that young children with autism do not spontaneously integrate information in order to make script inferences, as do typically developing children. These findings may help to explain communicative problems of young children with autism and can be applied to intervention programme development. More research on the link between a 'weak central coherence' cognitive style and communicative comprehension in autism will be valuable in understanding the comprehension deficits associated with autism. C1 [Bavin, Edith L.] La Trobe Univ, Sch Psychol Sci, Melbourne, Vic 3083, Australia. RP Bavin, EL (reprint author), La Trobe Univ, Sch Psychol Sci, Melbourne, Vic 3083, Australia. EM e.bavin@latrobe.edu.au CR Abelson R., 1977, SCRIPTS PLANS GOALS American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Baron-Cohen S., 1995, MIND BLINDNESS Berman R. 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J. Lang. Commun. Disord. PD JAN-FEB PY 2011 VL 46 IS 1 BP 108 EP 119 DI 10.3109/13682822.2010.484847 PG 12 WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation GA 711ON UT WOS:000286601400009 PM 20565231 ER PT J AU Pasco, G Tohill, C AF Pasco, Greg Tohill, Christina TI Predicting progress in Picture Exchange Communication System (PECS) use by children with autism SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS LA English DT Article DE autism spectrum disorder; Picture Exchange Communication System (PECS); predicting progress ID DEVELOPMENTAL LEVEL; SPEECH DEVELOPMENT; JOINT ATTENTION; YOUNG-CHILDREN; INTERVENTIONS; PRESCHOOLERS; TEACHERS; AGE AB Background: The Picture Exchange Communication System (PECS) is a widely used communication intervention for non-verbal children with autism spectrum disorder. Findings for the benefits of PECS have almost universally been positive, although there is very limited information about the characteristics of PECS users that determine the amount of progress that they are likely to make. Aims: To explore the utility of using children's developmental age to predict the subsequent degree of progress using PECS. Methods & Procedures: In a retrospective study, 23 non-verbal 5- and 6-year-old children with autism spectrum disorder attending a special school were assessed to determine their highest level of PECS ability. They were then allocated to one of two groups depending on whether or not they had mastered PECS phase III. All participants had been assessed using the Psycho-Educational Profile-Revised (PEP-R) on entry to the school and before being introduced to PECS. Total developmental age scores were examined to determine whether they accurately predicted membership of the two PECS ability groups. Outcomes & Results: All the 16 children who had mastered PECS phase III had total developmental age scores of 16 months or above, whilst six of the seven children who had not progressed beyond phase III scored below 16 months-the other child had a score of 16 months. Conclusions & Implications: The assessment of the developmental level of potential PECS users may provide valuable predictive information for speech-and-language therapists and other professionals in relation to the likely degree of progress and in setting realistic and achievable targets. C1 [Pasco, Greg] Autism Res Ctr, Cambridge CB2 8AH, England. [Tohill, Christina] Manor Special Sch, London, England. RP Pasco, G (reprint author), Autism Res Ctr, 18B Trumpington Rd, Cambridge CB2 8AH, England. 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J. Lang. Commun. Disord. PD JAN-FEB PY 2011 VL 46 IS 1 BP 120 EP 125 DI 10.3109/13682822.2010.484851 PG 6 WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation GA 711ON UT WOS:000286601400010 PM 20536353 ER PT J AU Fandino, M Connolly, M Usher, L Palm, S Kozak, FK AF Fandino, Marcela Connolly, Mary Usher, Laurie Palm, Sheryl Kozak, Frederick K. TI Landau-Kleffner syndrome: A rare Auditory Processing Disorder Series of cases and review of the literature SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY LA English DT Review DE Landau-Kleffner syndrome; Epilepsy; Auditory verbal agnosia; Childhood-acquired epileptic aphasia ID VAGUS NERVE-STIMULATION; SIGN-LANGUAGE; CHILDHOOD; EPILEPSY; CHILDREN; AUTOANTIBODIES; APHASIA; AUTISM; SPIKES; BRAIN AB Objective: To describe the clinical presentation and treatment of 3 children with an Auditory Processing Disorder with an identifiable neurological cause: Landau-Kleffner syndrome [3]. This classical syndrome is well recognized in pediatric neurology but the diagnosis is less well known to Pediatric Otolaryngology, Speech Language Pathology and Audiology services. Methods: Retrospective chart review of three patients with Landau-Kleffner syndrome. Results: In all cases, pharmacological intervention led to clinical and electroencephalographic improvement, but all patients had long-term difficulty with understanding sounds in a noisy environment. Magnetic Resonance Imaging (MRI) of the brain was normal in all three patients. Their language disturbance improved over time. Speech language intervention was helpful in addressing communication difficulties arising from the auditory processing/receptive and expressive language disorder. Conclusion: A multidisciplinary assessment is the key for early diagnosis, treatment and follow-up in patients with this syndrome. (C) 2010 Published by Elsevier Ireland Ltd. C1 [Fandino, Marcela; Kozak, Frederick K.] Univ British Columbia, British Columbia Childrens Hosp, Div Pediat Otolaryngol, Div Otolaryngol,Dept Surg, Vancouver, BC V6H 3V4, Canada. [Connolly, Mary] Univ British Columbia, British Columbia Childrens Hosp, Div Pediat Neurol, Div Neurol, Vancouver, BC V6H 3V4, Canada. [Usher, Laurie] British Columbia Childrens Hosp, Div Pediat Audiol, Vancouver, BC, Canada. [Palm, Sheryl] British Columbia Childrens Hosp, Cleft Palate Craniofacial Team, Vancouver, BC, Canada. RP Kozak, FK (reprint author), Univ British Columbia, British Columbia Childrens Hosp, Div Pediat Otolaryngol, Div Otolaryngol,Dept Surg, K2-184 ACB,4480 Oak St, Vancouver, BC V6H 3V4, Canada. 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J. Pediatr. Otorhinolaryngol. PD JAN PY 2011 VL 75 IS 1 BP 33 EP 38 DI 10.1016/j.ijporl.2010.10.001 PG 6 WC Otorhinolaryngology; Pediatrics SC Otorhinolaryngology; Pediatrics GA 717RT UT WOS:000287065800006 PM 21074868 ER PT J AU Nicholas, D Zwaigenbaum, L Clarke, M Roberts, W Magill-Evans, J Saini, M Lach, L McCulloch, R Barrett, D Spoelestra, M AF Nicholas, David Zwaigenbaum, Lonnie Clarke, Margaret Roberts, Wendy Magill-Evans, Joyce Saini, Michael Lach, Lucyna McCulloch, Radha Barrett, Deborah Spoelestra, Marg TI Synthesis Review of Qualitative Studies in Autism SO INTERNATIONAL JOURNAL OF QUALITATIVE METHODS LA English DT Meeting Abstract C1 [Nicholas, David] Univ Calgary, Calgary, AB T2N 1N4, Canada. [Zwaigenbaum, Lonnie] Univ Alberta, Glenrose Rehabil Hosp, Edmonton, AB T6G 2M7, Canada. [Roberts, Wendy] Hosp Sick Children, Toronto, ON, Canada. [Magill-Evans, Joyce] Univ Alberta, Edmonton, AB T6G 2M7, Canada. [Saini, Michael] Univ Toronto, Toronto, ON M5S 1A1, Canada. [Lach, Lucyna; McCulloch, Radha] McGill Univ, Montreal, PQ H3A 2T5, Canada. NR 0 TC 0 Z9 0 PU UNIV ALBERTA, INT INST QUALITATIVE METHODOLOGY PI EDMONTON PA 5-217, EDMONTON CLINIC HEALTH ACAD, 11405 87 AVENUE, EDMONTON, AB T6G 1C9, CANADA SN 1609-4069 J9 INT J QUAL METH JI Int. J. Qual. Meth. PY 2011 VL 10 IS 4 BP 506 EP 506 PG 1 WC Social Sciences, Interdisciplinary SC Social Sciences - Other Topics GA 059ZL UT WOS:000312744200104 ER PT J AU Jivraj, J AF Jivraj, Jamil TI Exploring research engagement among autism stakeholders in Alberta SO INTERNATIONAL JOURNAL OF QUALITATIVE METHODS LA English DT Meeting Abstract C1 [Jivraj, Jamil] Univ Alberta, Edmonton, AB T6G 2M7, Canada. NR 0 TC 0 Z9 0 PU UNIV ALBERTA, INT INST QUALITATIVE METHODOLOGY PI EDMONTON PA 5-217, EDMONTON CLINIC HEALTH ACAD, 11405 87 AVENUE, EDMONTON, AB T6G 1C9, CANADA SN 1609-4069 J9 INT J QUAL METH JI Int. J. Qual. Meth. PY 2011 VL 10 IS 4 BP 550 EP 550 PG 1 WC Social Sciences, Interdisciplinary SC Social Sciences - Other Topics GA 059ZL UT WOS:000312744200167 ER PT J AU Benford, P Standen, PJ AF Benford, P. Standen, P. J. TI The use of email-facilitated interviewing with higher functioning autistic people participating in a grounded theory study SO INTERNATIONAL JOURNAL OF SOCIAL RESEARCH METHODOLOGY LA English DT Article DE email-facilitated interviewing; high-functioning autism; Asperger syndrome; grounded theory ID ASPERGER-SYNDROME; DISABILITIES; PERSPECTIVE AB This paper explores the inclusive potential of computer-mediated communication (CMC) for a 'hard to reach' group of research participants, specifically people at the higher functioning end of the autistic spectrum. Drawing on the literature pertaining to the fields of autism, CMC and research methods, as well as the first author's experience of using email as a means of conducting interviews, the paper will discuss the epistemological, methodological and practical issues raised by the use of this method of collecting data from higher functioning autistic people, as well as its suitability in the context of a study guided by grounded theory. C1 [Benford, P.; Standen, P. J.] Univ Nottingham, Queens Med Ctr, Sch Med, Div Rehabil & Ageing,Sch Community Hlth Sci, Nottingham NG7 2UH, England. RP Benford, P (reprint author), Univ Nottingham, Queens Med Ctr, Sch Med, Div Rehabil & Ageing,Sch Community Hlth Sci, Floor B, Nottingham NG7 2UH, England. 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PY 2011 VL 14 IS 5 BP 353 EP 368 DI 10.1080/13645579.2010.534654 PG 16 WC Social Sciences, Interdisciplinary SC Social Sciences - Other Topics GA 887CB UT WOS:000299901900002 ER PT J AU Schiavone, G Formica, D Taffoni, F Campolo, D Guglielmelli, E Keller, F AF Schiavone, Giuseppina Formica, Domenico Taffoni, Fabrizio Campolo, Domenico Guglielmelli, Eugenio Keller, Flavio TI Multimodal Ecological Technology: From Child's Social Behavior Assessment to Child-Robot Interaction Improvement SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS LA English DT Article DE Child-robot interactions; Autism; Ecological assessment; Multimodal signals; In-field calibration AB The development of sensorimotor coordination in infancy is fundamental for regulating interactional dynamics with peers and adults. In this work we present a multimodal device to systematically assess children's orienting behavior in social situations. Technological choices are emphasized with respect to ecological requirements. Also ad-hoc calibration procedures are presented which are suitable to unstructured environments. Preliminary tests carried out at a local daycare with 12-36 months old typically developing infants prove the in-field usability of the proposed technology. Considerations on the future development of the device underscore the meaningful contribution that such platform can offer to child-robot interaction research. C1 [Schiavone, Giuseppina] European Space Agcy, European Space Res & Technol Ctr, Adv Concepts Team, NL-2200 AG Noordwijk, Netherlands. [Formica, Domenico; Taffoni, Fabrizio; Guglielmelli, Eugenio] Univ Campus Biomed, Biomed Robot & Biomicrosyst Lab, I-00128 Rome, Italy. [Campolo, Domenico] Nanyang Technol Univ, Sch Mech & Aerosp Engn, Singapore 639798, Singapore. [Keller, Flavio] Univ Campus Biomed, Dev Neurosci Lab, I-00128 Rome, Italy. RP Schiavone, G (reprint author), European Space Agcy, European Space Res & Technol Ctr, Adv Concepts Team, NL-2200 AG Noordwijk, Netherlands. EM giuseppina.schiavone@esa.int; d.formica@unicampus.it; f.taffoni@unicampus.it; d.campolo@ntu.edu.sg; e.guglielmelli@unicampus.it; f.keller@unicampus.it RI Campolo, Domenico/G-5648-2010; Formica, Domenico/G-9403-2011 FU European Union [015636]; Academic Research Fund (AcRF) Tier1, Ministry of Education, Singapore [RG 40/09] FX This work was partly supported by a grant from the European Union, TACT (Thought in Action), FP6-NEST/ADVENTURE program, contract no. 015636 and by the Academic Research Fund (AcRF) Tier1 (RG 40/09), Ministry of Education, Singapore. 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Current reports on therapeutic trials of repetitive transcranial magnetic stimulation (rTMS) in adolescents have primarily focused on depression. However, other pilot work involves the treatment of attention-deficit/hyperactivity disorder (ADHD), autism and schizophrenia. Neurophysiological studies typically utilize single and paired-pulse TMS paradigms which index cortical excitability and inhibition. Initial studies have focused on ADHD, autism, and depression. General knowledge regarding TMS among child and adolescent psychiatrists is lacking. The aim of this review is to provide an overview of TMS in the context of child and adolescent psychiatry, discuss recent therapeutic and neurophysiological studies, and examine relevant ethical considerations. C1 [Croarkin, Paul E.] Mayo Clin, Dept Psychiat & Psychol, Rochester, MN 55905 USA. [Lee, Jon] Univ Toronto, Toronto, ON, Canada. 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BE Fidler, DJ TI SEX CHROMOSOME ANEUPLOIDIES: A WINDOW FOR EXAMINING THE EFFECTS OF THE X AND Y CHROMOSOMES ON SPEECH, LANGUAGE, AND SOCIAL DEVELOPMENT SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES: EARLY DEVELOPMENT IN NEUROGENETIC DISORDERS, VOL 40 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID LINKED GENE-EXPRESSION; TURNER-SYNDROME; KLINEFELTER-SYNDROME; RECOGNITION DEFICITS; MENTAL-RETARDATION; GENDER DIFFERENCES; BRAIN-DEVELOPMENT; BEHAVIOR PROBLEMS; AUTISM-SPECTRUM; META-ANALYSIS AB In this chapter, the existing literature on speech, language, and social development in children with sex chromosome aneuploidies (SCAs) is reviewed. 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PY 2011 VL 40 BP 139 EP 180 DI 10.1016/B978-0-12-374478-4.00006-X PG 42 WC Education, Special; Neurosciences; Psychology, Multidisciplinary; Rehabilitation SC Education & Educational Research; Neurosciences & Neurology; Psychology; Rehabilitation GA BWU59 UT WOS:000294875600006 ER PT J AU Lee, HJ AF Lee, Hyo Jung TI Cultural Factors Related to the Hidden Curriculum for Students With Autism and Related Disabilities SO INTERVENTION IN SCHOOL AND CLINIC LA English DT Article DE adolescence; special education curriculum; autism research/intervention; disabilities; cultural diversity; strategies instruction ID ASPERGER-SYNDROME; SPECTRUM DISORDERS; SOCIAL SKILL; CHILDREN; MIND; ADOLESCENTS; CLASSROOM; ETHNICITY; PEERS AB The hidden curriculum, the unwritten rules and standards for social conduct that most people take for granted and learn more or less automatically, poses a challenge for many individuals on the autism spectrum because of deficits in social cognition and social interaction skills. Compounding challenges are cultural factors, such as age, ethnicity, language, religion, gender, sexuality, and socioeconomic status. To date, research on teaching social skills to students with autism spectrum disorders has paid little attention to unspoken social rules, which play a major role in social interactions. This article discusses the cultural factors that can affect the hidden curriculum. In addition, practical strategies to develop and teach hidden curriculum items are suggested along with the importance of understanding these issues. C1 Dongguk Univ Seoul, Dept Educ, Seoul, South Korea. RP Lee, HJ (reprint author), Dongguk Univ Seoul, Dept Educ, 26 Pil Dong 3 Ga, Seoul, South Korea. 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PD JAN PY 2011 VL 46 IS 3 BP 141 EP 149 DI 10.1177/1053451210378162 PG 9 WC Education, Special SC Education & Educational Research GA 689QL UT WOS:000284943300002 ER PT J AU Leach, D LaRocque, M AF Leach, Debra LaRocque, Michelle TI Increasing Social Reciprocity in Young Children With Autism SO INTERVENTION IN SCHOOL AND CLINIC LA English DT Article DE social skills; collaboration; autism; families; early childhood intervention(s) ID INTERVENTION; PARENTS AB Research and education law support the use of routines-based interventions for young children with disabilities in the children's natural environments. However, systematic training and practice can provide individuals with the strategies and skills that can enhance these interventions. This article provides guidance for implementing intervention in the natural environment to promote the social reciprocity of young children with autism. 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