FN Thomson Reuters Web of Science™ VR 1.0 PT J AU Cui, JF Chen, YH Zhang, XD Wang, Y Gao, DG Zou, XB AF Cui, Ji-fang Chen, Ying-he Zhang, Xiao-dong Wang, Ya Gao, Ding-guo Zou, Xiao-bing TI Cognitive Inhibition and Shifting in Asperger's Syndrome SO PSYCHOPATHOLOGY LA English DT Letter ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; CHILDREN; TASK; INTERFERENCE; PERFORMANCE; ADULTS C1 [Cui, Ji-fang; Chen, Ying-he; Zhang, Xiao-dong] Beijing Normal Univ, Inst Dev Psychol, Sch Psychol, Beijing 100875, Peoples R China. [Wang, Ya] Chinese Acad Sci, Inst Psychol, Neuropsychol & Appl Cognit Neuropsychol Lab, Key Lab Mental Hlth, Beijing 100101, Peoples R China. [Gao, Ding-guo] Sun Yat Sen Univ, Dept Psychol, Guangzhou 510275, Guangdong, Peoples R China. [Zou, Xiao-bing] Sun Yat Sen Univ, Affiliated Hosp 3, Guangzhou 510275, Guangdong, Peoples R China. RP Chen, YH (reprint author), Beijing Normal Univ, Inst Dev Psychol, Sch Psychol, 19 Xinjiekou Wai St, Beijing 100875, Peoples R China. 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Fifty-seven children with autistic spectrum disorders (ASD) were included in the study. Two types of AR are defined as regression after a normal social/language development (type 1) and regression as the worsening of previously reported autistic features (type 2). The frequency of history of AR was 56.1%. Male gender and sleep problems were found to be associated with a positive history of AR. The frequency of gastrointestinal complaints/diseases was higher in children with regression type 2 when compared to the children with regression type 1. Future studies with larger sample size and prospective design will contribute to clarifying the phenomenology and the associated factors of AR. C1 [Ekinci, Ozalp] Antakya Hosp Child Care, Antakya, Turkey. [Arman, Ayse Rodopman; Berkem, Meral] Marmara Univ, Sch Med, Istanbul, Turkey. [Melek, Ismet] Mustafa Kemal Univ, Sch Med, Antakya, Turkey. [Bez, Yasin] Dicle Univ, Sch Med, Diyarbakir, Turkey. RP Ekinci, O (reprint author), Antakya Hosp Child Care, Antakya, Turkey. 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Child Adolesc. Psych. PD JAN PY 2012 VL 21 IS 1 BP 23 EP 29 DI 10.1007/s00787-011-0228-7 PG 7 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 892JK UT WOS:000300282300004 PM 22080249 ER PT J AU Bird, EKR Lamond, E Holden, J AF Bird, Elizabeth Kay-Raining Lamond, Erin Holden, Jeanette TI Survey of bilingualism in autism spectrum disorders SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS LA English DT Article DE autism; bilingual; language development; and language disorders ID CHILDREN; INTERVENTION; ABILITIES AB This survey study investigates issues related to bilingualism and autism. Bilingualism is common around the world but there is little published information to guide professionals and parents in making decisions about bilingualism for children with autism. Participants were 49 parents or guardians of children with autism who were members of a bilingual family; 75% were raising their child with autism spectrum disorders (ASD) to be bilingual or multilingual. Professionals did not always support this choice. Parents reported that living in a bilingual community and the need to communicate with various people in a variety of venues supported a bilingual choice along with the enrichment and job opportunities that bilingualism afforded. Parents also reported concerns around choosing bilingualism for their children with ASD, such as lack of services and supports and concerns about whether their children would be able to learn two languages. Children with ASD exposed to two languages were often reported to be acquiring their languages of exposure, albeit to varying degrees. Given the small sample size and the exploratory nature of the study, the need for more research is emphasized. C1 [Bird, Elizabeth Kay-Raining] Dalhousie Univ, Sch Human Commun Disorders, Halifax, NS B3H 1R2, Canada. [Lamond, Erin] Nova Scotia Hearing Ctr, Halifax, NS, Canada. [Lamond, Erin] Nova Scotia Speech Ctr, Halifax, NS, Canada. [Holden, Jeanette] Queens Univ, Dept Psychiat, Kingston, ON K7L 3N6, Canada. [Holden, Jeanette] Queens Univ, Dept Physiol, Kingston, ON K7L 3N6, Canada. RP Bird, EKR (reprint author), Dalhousie Univ, Sch Human Commun Disorders, 5599 Fenwick St, Halifax, NS B3H 1R2, Canada. EM rainbird@dal.ca FU Canada Foundation for Innovation [7939] FX The Research Registry accessed for this research was developed in part with funds from a Canada Foundation for Innovation grant (No. #7939; principal Investigator J.J.A. Holden). Warmest thanks to all the participants who completed the survey. Thanks also to ASD-CARC for access to the Research Registry and piloting of the survey. Declaration of interest: The authors report no conflicts of interest. The authors are responsible for the content and writing of the paper. CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Anderson DK, 2007, J CONSULT CLIN PSYCH, V75, P594, DOI 10.1037/0022-006X.75.4.594 Bird EKR, 2005, AM J SPEECH-LANG PAT, V14, P187, DOI 10.1044/1058-0360(2005/019) DE HOUWER A., 1999, EDOFL9903 ERIC US DO De Houwer A, 2009, BILINGUAL 1 LANGUAGE Feltmate K., 2008, CANADIAN J SPEECH LA, V32, P6 Howlin P., 2002, OUTCOMES NEURODEVELO, P136, DOI 10.1017/CBO9780511543876.007 KAY-RAINING BIRD E., 2006, LANGUAGE DISORDERS D, P249 Kohnert K, 2005, LANG SPEECH HEAR SER, V36, P251, DOI 10.1044/0161-1461(2005/025) OLLER K., 2002, LANGUAGE LITERACY BI, P281 Paradis J, 2007, APPL PSYCHOLINGUIST, V28, P551, DOI 10.1017/S0142716407070300 Paradis J., 2011, DUAL LANGUAGE DEV DI, V2nd Paradis J, 2003, J SPEECH LANG HEAR R, V46, P113, DOI 10.1044/1092-4388(2003/009) Rutter M., 2003, AUTISM DIAGNOSTIC IN Seung H, 2006, J MED SPEECH-LANG PA, V14, P53 THORDARDOTTIR E., 2002, AM SPEECH HEAR ASS C NR 16 TC 6 Z9 6 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1368-2822 J9 INT J LANG COMM DIS JI Int. J. Lang. Commun. Disord. PD JAN-FEB PY 2012 VL 47 IS 1 BP 52 EP 64 DI 10.1111/j.1460-6984.2011.00071.x PG 13 WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation GA 892KI UT WOS:000300284700005 PM 22268901 ER PT J AU Pagnamenta, AT Lise, S Harrison, V Stewart, H Jayawant, S Quaghebeur, G Deng, AT Murphy, VE Akha, ES Rimmer, A Mathieson, I Knight, SJL Kini, U Taylor, JC Keays, DA AF Pagnamenta, Alistair T. Lise, Stefano Harrison, Victoria Stewart, Helen Jayawant, Sandeep Quaghebeur, Gerardine Deng, Alexander T. Murphy, Valerie Elizabeth Akha, Elham Sadighi Rimmer, Andy Mathieson, Iain Knight, Samantha J. L. Kini, Usha Taylor, Jenny C. Keays, David A. TI Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies SO JOURNAL OF HUMAN GENETICS LA English DT Article DE next generation sequencing; mosaic; somatic; PAFAH1B1; neuronal migration ID SUBCORTICAL BAND HETEROTOPIA; LIS1; DYNEIN AB The development of next generation sequencing (NGS) has radically transformed the scientific landscape, making it possible to sequence the exome of any given individual in a cost-effective way. The power of this approach has been demonstrated by a number of groups who have identified pathogenic mutations in small pedigrees that have been resistant to traditional genetic mapping. Recently it has become clear that exome sequencing has great potential with respect to sporadic disease and the identification of de novo mutations. This is highlighted by studies reporting whole-exome sequencing of patient-parental trios affected by learning disability, autism and schizophrenia. It is widely anticipated that the introduction of this technique into a clinical setting will revolutionise genetic diagnosis. However, the sensitivity of NGS exome sequencing is currently unclear. Here, we describe the exome sequencing of DNA samples from a patient with double cortex syndrome and her parents, resulting in the detection of a mosaic splicing mutation in LIS1. This variant was found at an allele frequency of just 18%, demonstrating that NGS methods have the capacity to identify pathogenic mosaic mutations present at a low level. Journal of Human Genetics (2012) 57, 70-72; doi: 10.1038/jhg.2011.128; published online 1 December 2011 C1 [Keays, David A.] Res Inst Mol Pathol, Dept Neurogenet, A-1030 Vienna, Austria. [Pagnamenta, Alistair T.; Lise, Stefano; Deng, Alexander T.; Murphy, Valerie Elizabeth; Akha, Elham Sadighi; Rimmer, Andy; Mathieson, Iain; Knight, Samantha J. L.; Taylor, Jenny C.] Wellcome Trust Ctr Human Genet, NIHR Biomed Res Ctr, Oxford, England. [Harrison, Victoria; Stewart, Helen; Kini, Usha] Oxford Radcliffe NHS Trust, Dept Clin Genet, Oxford, England. [Jayawant, Sandeep] John Radcliffe Hosp, Dept Neurol, Oxford OX3 9DU, England. [Quaghebeur, Gerardine] John Radcliffe Hosp, Dept Neuroradiol, Oxford OX3 9DU, England. RP Keays, DA (reprint author), Res Inst Mol Pathol, Dept Neurogenet, Dr Bohr Gasse 7, A-1030 Vienna, Austria. EM keays@imp.ac.at RI Lise, Stefano/E-6759-2012 FU NIHR Biomedical Research Centre Oxford; Department of Health's NIHR Biomedical Research Centres; FWF [P21092]; Wellcome Trust [090532/Z/09/Z, G0900747 91070] FX This work was funded by the NIHR Biomedical Research Centre Oxford, with funding from the Department of Health's NIHR Biomedical Research Centres funding scheme and FWF Grant P21092. We thank the family members who participated in this study and the High-Throughput Genomics team at the Wellcome Trust Centre for Human Genetics (funded by Wellcome Trust Grant 090532/Z/09/Z and MRC Hub Grant G0900747 91070). For more information about the Oxford Brain Abnormality Research Group, please see http://www.brainabnormalities.org.uk. 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TI Omega-3-fatty acids in psychiatry SO NERVENHEILKUNDE LA German DT Article DE Omega 3 fatty acids; depression; Alzheimer's disease; psychoses; borderline personality disorder AB Depression and Alzheimer's disease, frequent psychiatric disorders, often are therapy-resistant or sometimes treatable only with several side effects. Increasing research activity about function and regulation of omega 3 fatty acids so raises hope to find a new therapy module in treatment of these and other psychiatric and somatic disorders. This review is about published studies of the last years, especially of 2010, found by medpilot.de. Beneficial effects in the treatment of Major Depression, in the earliest stages of mild cognitive impairment, some syndromes of the borderline personality disorder and in the prevention of psychoses there are described. Recommendations of the American Psychiatric Association of 2006 so are confirmed. Even for children with ADHD, autism and sleeping disorder there are results suggesting a beneficial effect. In the general medicine, only mentioned in this review, there are areas of application in cardiovascular diseases, also at in the treatment of psoriasis, the rheumatoid arthritis, the Crohn's disease and in the prevention of the carcinoma of the prostate. Optimum doses and treatment modules for the specific omega 3 fatty acids are not yet established, further work is required in these areas. The treatment normally has only rare side effects. So it can be already recommended for patients suffering the mentioned psychiatric diseases and refusing other psychotropic agents, but also in case of comorbidity or side effects like obesity, cardiovascular diseases or diabetes. RP Meissner, A (reprint author), Tegernseer Landstr 49, D-81541 Munich, Germany. EM psy.meissner@gmx.de NR 0 TC 0 Z9 0 PU SCHATTAUER GMBH-VERLAG MEDIZIN NATURWISSENSCHAFTEN PI STUTTGART PA HOLDERLINSTRASSE 3, D-70174 STUTTGART, GERMANY SN 0722-1541 J9 NERVENHEILKUNDE JI Nervenheilkunde PY 2012 VL 31 IS 1-2 BP 61 EP 67 PG 7 WC Clinical Neurology; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 892CZ UT WOS:000300265600009 ER PT J AU Broicher, SD Kuchukhidze, G Grunwald, T Kramer, G Kurthen, M Jokeit, H AF Broicher, Sarah D. Kuchukhidze, Giorgi Grunwald, Thomas Kraemer, Guenter Kurthen, Martin Jokeit, Hennric TI "Tell me how do I feel" - Emotion recognition and theory of mind in symptomatic mesial temporal lobe epilepsy SO NEUROPSYCHOLOGIA LA English DT Article DE Social cognition; Temporal lobe epilepsy; Emotion recognition, Theory of mind ID HIGH-FUNCTIONING AUTISM; QUALITY-OF-LIFE; ASPERGER-SYNDROME; SOCIAL COGNITION; INTERICTAL BEHAVIOR; AMYGDALA DAMAGE; DECISION-MAKING; ANIMATED SHAPES; MENTAL STATES; ATTRIBUTION AB Specific interictal personality characteristics in epilepsy, sometimes referred to as "Waxman-Geschwind Syndrome", have been recognized for centuries and extensively described. Despite the persevering clinical impression that patients with mesial temporal lobe epilepsies (MTLE) suffer from problems in communication and interpersonal relations, uncertainties and controversies remain as to the precise origin of these psychosocial difficulties. Here, we investigated social-cognitive and decision-making abilities using a set of tasks that combine behavioural and psychological measures of social and emotional variables to answer the question of whether patients with MILE are specifically impaired in social cognition compared to both an epilepsy and a healthy control group. MTLE patients, an epilepsy control group (extra-MTLE; patients with epilepsy, not originating within the frontal or mesial temporal lobe) and healthy controls (HC) were assessed according to their general cognitive status as well as with our Social Cognition Battery, which included tests of basic processes of social cognition, theory of mind, decision making, and various aspects of psychopathology and quality of life. MTLE patients were significantly impaired compared to HC on most measures of the Social Cognition Battery. MTLE patients were predominantly impaired in general emotion recognition compared to extra-MTLE patients. Performance in the epilepsy control group, although not significantly differing from performance in either the MILE or the healthy control group, lay between these two groups. MTLE can be considered a significant risk factor for the development of deficits in social cognition beyond weaknesses that might be associated with epilepsy as a stigmatized chronic neurological disorder. The presence of deficits in social cognition may explain various behavioural symptoms that have historically driven concepts such as "epileptic personality" or "interictal personality disorder" and may indicate new routes for therapeutic interventions. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Broicher, Sarah D.; Grunwald, Thomas; Kraemer, Guenter; Kurthen, Martin; Jokeit, Hennric] Swiss Epilepsy Ctr, CH-8008 Zurich, Switzerland. [Kuchukhidze, Giorgi] Innsbruck Med Univ, Dept Neurol, Innsbruck, Austria. RP Broicher, SD (reprint author), Swiss Epilepsy Ctr, Bleulerstr 60, CH-8008 Zurich, Switzerland. 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A. Pill, S. J. Minnaert, A. E. M. G. TI Attitudes of teachers, parents and students towards inclusive education: A literature review SO PEDAGOGISCHE STUDIEN LA Dutch DT Review ID DEFICIT HYPERACTIVITY DISORDER; KINDERGARTEN-AGE CHILDREN; SEVERE DISABILITIES; MENTAL-RETARDATION; PEERS; INFORMATION; PERCEPTIONS; CONTACT; AUTISM; ACCEPTANCE AB Attitudes of teachers, parents and students towards inclusive education: A literature review Educating children with disabilities in regular schools is an important goal in many countries nowadays. The realization of this does not seem to be easy. It is known that a part of children with disabilities experience difficulties in their social participation and cannot find social connection with their classmates. An important factor in this could be the attitudes of teachers, parents and students (i.e., classmates). 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The temporal poles have been shown to be involved in theory of mind, namely the ability to ascribe cognitive and affective mental states to others that regulates social interactions by predicting and interpreting human behaviour. However, very few studies have examined theory of mind in semantic dementia. In this study, we investigated both cognitive and affective theory of mind in a group of patients with semantic dementia, using separate objective and subjective assessment tasks. Results provided objective evidence of an impact of semantic dementia on cognitive and affective theory of mind, consistent with the patients' atrophy in the left temporal lobe and hypometabolism in the temporal lobes and the medial frontal cortex. However, the subjective assessment of theory of mind suggested that awareness of the affective but not cognitive theory of mind deficit persists into the moderate stage of the disease. 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Two groups of 14-18-month-olds participated in these studies. In both studies, infants watched an adult perform a sequence of two-step actions on novel toys that produced an end-result. In the first study actions were marked intentionally with both lexical and prosodic cues. In the second study, the lexical markers of intention were presented in Greek, thus providing infants with prosodic but not lexical cues. In both studies, infants reproduced more intentional than accidental actions, suggesting that infants can infer intentions from prosodic cues. (C) 2011 Elsevier Inc. All rights reserved. C1 [Sakkalou, Elena; Gattis, Merideth] Cardiff Univ, Sch Psychol, Cardiff, S Glam, Wales. RP Sakkalou, E (reprint author), Inst Child Hlth, Neurosci Unit, 4-5 Long Yard, London WC1N 3LU, England. 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Dev. PD JAN-MAR PY 2012 VL 27 IS 1 BP 1 EP 16 DI 10.1016/j.cogdev.2011.08.003 PG 16 WC Psychology, Developmental; Psychology, Experimental SC Psychology GA 889JU UT WOS:000300070800001 ER PT J AU Tek, S Jaffery, G Swensen, L Fein, D Naigles, LR AF Tek, Saime Jaffery, Gul Swensen, Lauren Fein, Deborah Naigles, Letitia R. TI The shape bias is affected by differing similarity among objects SO COGNITIVE DEVELOPMENT LA English DT Article DE Shape bias; Word learning; Attentional learning; Visual contrast; Perceptual similarity; Intermodal Preferential Looking ID ACQUISITION; CHILDREN; AUTISM AB Previous research has demonstrated that visual properties of objects can affect shape-based categorization in a novel-name extension task; however, we still do not know how a relationship between visual properties of objects affects judgments in a novel-name extension task. We examined effects of increased visual similarity among the target and test objects in a shape bias task in young children and adults. Experiment 1 assessed college students with sets of objects whose similarity between target and test objects was either low or high similarity. Adults preferred shape when the similarity among objects was minimized. Experiment 2 tested 24-month olds in their use of the shape bias using the Intermodal Preferential Looking Paradigm. Children showed a shape bias only with items whose similarity to each other was low. These findings suggest that the visual properties of objects affect shape bias performance. (C) 2011 Elsevier Inc. All rights reserved. C1 [Tek, Saime; Jaffery, Gul; Swensen, Lauren; Fein, Deborah; Naigles, Letitia R.] Univ Connecticut, Dept Psychol, Unit 1020, Storrs, CT 06269 USA. RP Tek, S (reprint author), Univ Connecticut, Dept Psychol, Unit 1020, 406 Babbidge Rd, Storrs, CT 06269 USA. 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PD JAN-MAR PY 2012 VL 27 IS 1 BP 28 EP 38 DI 10.1016/j.cogdev.2011.09.009 PG 11 WC Psychology, Developmental; Psychology, Experimental SC Psychology GA 889JU UT WOS:000300070800003 ER PT J AU Gola, AAH AF Gola, Alice Ann Howard TI Mental verb input for promoting children's theory of mind: A training study SO COGNITIVE DEVELOPMENT LA English DT Article DE Theory of mind; Training study; Overheard vs. interactive mental state; language; False belief ID FALSE-BELIEF; STATE LANGUAGE; AUTISM; OVERHEARING; WORDS; TALK AB An experimental study investigated the effect of the type of mental verb input (i.e., input with think, know, and remember) on preschoolers' theory of mind development. Preschoolers (n = 72) heard 128 mental verb utterances presented in video format across four sessions over two weeks. The training conditions differed only in the way the mental verbs were presented: the form (statement or question), the referent (first person or other person), and the interaction style (overheard or interactive). Children who overheard the characters discussing the mental states of someone else, either in statement or question form, significantly improved in their false belief understanding. These experimental findings demonstrate mental verb utterances about other people, even when not directed to the child, scaffold children's attention to differing perspectives, thus more efficiently promoting some aspects of their ToM development. (C) 2011 Elsevier Inc. All rights reserved. C1 [Gola, Alice Ann Howard] Univ Connecticut, Storrs, CT USA. RP Gola, AAH (reprint author), MANILA Consulting Grp Inc, 6707 Old Domin Dr, Mclean, VA 22101 USA. 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F., 2000, THESIS CITY U NEW YO Wellman HM, 2004, CHILD DEV, V75, P523, DOI 10.1111/j.1467-8624.2004.00691.x Wellman HM, 2011, CHILD DEV, V82, P780, DOI 10.1111/j.1467-8624.2011.01583.x Wiig E. H., 2004, CLIN EVALUATION LANG NR 41 TC 5 Z9 6 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0885-2014 J9 COGNITIVE DEV JI Cogn. Dev. PD JAN-MAR PY 2012 VL 27 IS 1 BP 64 EP 76 DI 10.1016/j.cogdev.2011.10.003 PG 13 WC Psychology, Developmental; Psychology, Experimental SC Psychology GA 889JU UT WOS:000300070800006 ER PT J AU Diken, IH AF Diken, Ibrahim H. TI An Exploration of Interactional Behaviors of Turkish Mothers and their Children with Special Needs: Implications for Early Intervention Practices SO EGITIM VE BILIM-EDUCATION AND SCIENCE LA English DT Article DE Mother-child interaction; children with special needs; speech and language delays; mild intellectual disabilities; autism; early intervention ID RETARDED-CHILDREN; RISK CHILDREN; 2ND YEAR; PARENT; RESPONSIVENESS; DISABILITIES; CONTINUITY; LANGUAGE; INFANCY; STYLE AB The present study explored 148 Turkish mothers' styles of interaction and interactive engagement behaviors of their children who have special needs (speech and language delays, mild intellectual disabilities, and autism). Video recordings mother-child interactions were analyzed using the Turkish Version of Maternal Behavior Rating Scale (TV-MBRS; Diken, 2009) and the Turkish Version of Child Behavior Rating Scale (TV-CBRS; Diken, 2009). Results revealed that the groups differed in terms of sensitivity, praise, directiveness and pace of the TV-MBRS and all of the TV-CBRS items. Implications for early intervention in Turkey were provided. C1 Anadolu Univ, Fac Educ, Dept Special Educ 26470, Eskisehir, Turkey. RP Diken, IH (reprint author), Anadolu Univ, Fac Educ, Dept Special Educ 26470, Eskisehir, Turkey. EM ihdiken@anadolu.edu.tr CR BECKWITH L, 1992, CHILD DEV, V63, P1198, DOI 10.1111/j.1467-8624.1992.tb01689.x Belsky J., 1984, CHILD FAMILY Bogenschneider K, 1997, J MARRIAGE FAM, V59, P345, DOI 10.2307/353475 Bornstein MH, 1999, INFANT BEHAV DEV, V22, P65, DOI 10.1016/S0163-6383(99)80006-X Ceber-Bakkaloglu H., 2000, OZEL EGITIM DERGISI, V2, P47 CUNNINGHAM CE, 1981, CHILD DEV, V52, P62 Diken I. 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B., 1999, SINGLE SUBJECT RES A Sameroff AJ, 2000, HDB EARLY CHILDHOOD, V2nd, P135, DOI DOI 10.1017/CBO9780511529320.009 Spiker D, 2002, INT REV RES MENT RET, V25, P35, DOI 10.1016/S0074-7750(02)80005-2 Topbas S., 2003, ICTL 2000 10 INT TUR Vereijken CMJL, 1997, INT J BEHAV DEV, V21, P35 NR 32 TC 0 Z9 0 PU TURKISH EDUCATION ASSOC PI KOCATEPE PA KIZILIRMAK CADDESI NO 8, KOCATEPE, ANKARA 00000, TURKEY SN 1300-1337 J9 EGIT BILIM JI Egit. Bilim PD JAN PY 2012 VL 37 IS 163 BP 297 EP 309 PG 13 WC Education & Educational Research SC Education & Educational Research GA 890BC UT WOS:000300119100023 ER PT J AU Tognini, P Pizzorusso, T AF Tognini, Paola Pizzorusso, Tommaso TI MicroRNA212/132 family: Molecular transducer of neuronal function and plasticity SO INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY LA English DT Article DE microRNA; CREB; Neural plasticity; Dendritic spine; LTP ID CIRCADIAN-CLOCK; COCAINE INTAKE; IN-VIVO; EXPRESSION; MIR-132; CREB; MECP2; MICRORNA-132; DISEASE; AUTISM AB MicroRNAs (miRNAs) are small non-coding RNAs that mediate post-transcriptional gene silencing. It is increasingly clear that miRNAs are key regulatory factors for a tight gene expression control. MiRNAs are involved in many aspects of organism development and function, in physiological and pathological conditions. MiRNA expression varies with cell type, tissue and developmental stages. The microRNA212/132 family is one of the most studied miRNA family due to the involvement of miR132 and miR212 in important cellular processes, especially in the brain. MiR132 and miR212 have been implicated in tissue development and in the formation and plasticity of neuronal connections. The main aim of this review is to highlight recent discoveries about miR212/132 family functions and its possible involvement in pathological processes. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Tognini, Paola; Pizzorusso, Tommaso] CNR, Ist Neurosci, I-56100 Pisa, Italy. [Tognini, Paola] Scuola Normale Super Pisa, Neurobiol Lab, I-56100 Pisa, Italy. [Pizzorusso, Tommaso] Univ Florence, Dipartimento Psicol, Area San Salvi, I-50100 Florence, Italy. RP Pizzorusso, T (reprint author), CNR, Ist Neurosci, Via Moruzzi 1, I-56100 Pisa, Italy. EM tognini@in.cnr.it; tommaso@in.cnr.it CR Abu-Elneel K, 2008, NEUROGENETICS, V9, P153, DOI 10.1007/s10048-008-0133-5 Alvarez-Saavedra M, 2011, HUM MOL GENET, V20, P731, DOI 10.1093/hmg/ddq519 Anand S, 2010, NAT MED, V16, P909, DOI 10.1038/nm.2186 Cheng HYM, 2007, NEURON, V54, P813, DOI 10.1016/j.neuron.2007.05.017 Cogswell JP, 2008, J ALZHEIMERS DIS, V14, P27 Edbauer D, 2010, NEURON, V65, P373, DOI 10.1016/j.neuron.2010.01.005 Hansen KF, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0015497 Hollander JA, 2010, NATURE, V466, P197, DOI 10.1038/nature09202 Im HI, 2010, NAT NEUROSCI, V13, P1120, DOI 10.1038/nn.2615 Impey S, 2010, MOL CELL NEUROSCI, V43, P146, DOI 10.1016/j.mcn.2009.10.005 Kim AH, 2010, SCHIZOPHR RES, V124, P183, DOI 10.1016/j.schres.2010.07.002 Klein ME, 2007, NAT NEUROSCI, V10, P1513, DOI 10.1038/nn2010 Krol J, 2010, NAT REV GENET, V11, P597, DOI 10.1038/nrg2843 Krol J, 2010, CELL, V141, P618, DOI 10.1016/j.cell.2010.03.039 Lagos D, 2010, NAT CELL BIOL, V12, P513, DOI 10.1038/ncb2054 Lambert TJ, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0015182 Magill ST, 2010, P NATL ACAD SCI USA, V107, P20382, DOI 10.1073/pnas.1015691107 Mellios N, 2011, NAT NEUROSCI, V14, P1240, DOI 10.1038/nn.2909 Na ES, 2011, HORM BEHAV, V59, P364, DOI 10.1016/j.yhbeh.2010.05.014 Nudelman AS, 2010, HIPPOCAMPUS, V20, P492, DOI 10.1002/hipo.20646 Packer AN, 2008, J NEUROSCI, V28, P14341, DOI 10.1523/JNEUROSCI.2390-08.2008 Remenyi J, 2010, BIOCHEM J, V428, P281, DOI 10.1042/BJ20100024 Shaked I, 2009, IMMUNITY, V31, P965, DOI 10.1016/j.immuni.2009.09.019 Talebizadeh Z, 2008, AUTISM RES, V1, P240, DOI 10.1002/aur.33 Tognini P, 2011, NAT NEUROSCI, V14, P1237, DOI 10.1038/nn.2920 Ucar A, 2010, NAT GENET, V42, P1101, DOI 10.1038/ng.709 Vo N, 2005, P NATL ACAD SCI USA, V102, P16426, DOI 10.1073/pnas.0508448102 Wayman GA, 2008, P NATL ACAD SCI USA, V105, P9093, DOI 10.1073/pnas.0803072105 Wibrand K, 2010, EUR J NEUROSCI, V31, P636, DOI 10.1111/j.1460-9568.2010.07112.x Wu H, 2010, P NATL ACAD SCI USA, V107, P18161, DOI 10.1073/pnas.1005595107 NR 30 TC 24 Z9 24 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 1357-2725 J9 INT J BIOCHEM CELL B JI Int. J. Biochem. Cell Biol. PD JAN PY 2012 VL 44 IS 1 BP 6 EP 10 DI 10.1016/j.biocel.2011.10.015 PG 5 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA 888CW UT WOS:000299982400002 PM 22062950 ER PT J AU Robinson, L Spencer, MD Thomson, LDG Sprengelmeyer, R Owens, DGC Stanfield, AC Hall, J Baig, BJ MacIntyre, DJ McKechanie, A Johnstone, EC AF Robinson, Louise Spencer, Michael D. Thomson, Lindsay D. G. Sprengelmeyer, Reiner Owens, David G. C. Stanfield, Andrew C. Hall, Jeremy Baig, Ben J. MacIntyre, Donald J. McKechanie, Andrew Johnstone, Eve C. TI Facial emotion recognition in Scottish prisoners SO INTERNATIONAL JOURNAL OF LAW AND PSYCHIATRY LA English DT Article DE Antisocial; Prisoner; Social cognition; Emotion; Offender ID CRIMINAL PSYCHOPATHY; EXPRESSIONS; FEAR; ABNORMALITIES; COGNITION; DISORDER; DEFICITS; AUTISM AB Background: Studies of antisocial populations have found that they show deficits in recognition of facial affect. Such deficits are also found in other populations with clinical conditions such as autism spectrum disorders, schizophrenia and obsessive compulsive disorder. Aims: We aimed to investigate the hypothesis that facial affect recognition in the Scottish prison population would differ from matched controls. In addition, we aimed to investigate any relationship between facial affect recognition deficits and offence history. Methods: A sample of serving convicted prisoners, drawn from a larger study, was assessed for ability to recognise facial affect. Other variables were also measured and a self-report offending history obtained. Results: 127 prisoners were assessed in 11 prisons. Male prisoners were significantly worse than age, sex and IQ-matched controls at recognising negative facial emotions, specifically anger, fear, sadness and disgust. Within the sample of prisoners, deficits in fear recognition were associated with a history of previous prison sentences but not previous convictions. With respect to offending history, sex offenders were relatively better at recognising sadness and worse at recognising surprise than the other offenders. These relationships remain after controlling for IQ. Conclusions: Scottish convicted prisoners show deficits in recognising negative facial emotions in a pattern consistent with other antisocial populations. We also demonstrated a relationship between particular patterns of deficit and types of offending history not previously described. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Robinson, Louise; Thomson, Lindsay D. G.; Owens, David G. C.; Stanfield, Andrew C.; Hall, Jeremy; Baig, Ben J.; MacIntyre, Donald J.; McKechanie, Andrew; Johnstone, Eve C.] Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Sch Mol & Clin Med, Edinburgh EH10 5HF, Midlothian, Scotland. [Spencer, Michael D.] Univ Cambridge, Dept Psychiat, Cambridge CB2 2AH, England. [Sprengelmeyer, Reiner] Univ St Andrews, Sch Psychol, St Andrews, Fife, Scotland. RP Robinson, L (reprint author), Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Sch Mol & Clin Med, Kennedy Tower, Edinburgh EH10 5HF, Midlothian, Scotland. 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E., 1960, DIAGNOSTIC ATTAINMEN Wechsler D, 1997, WECHSLER ADULT INTEL, V3rd Young AW, 2002, FACIAL EXPRESSIONS E NR 30 TC 4 Z9 4 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0160-2527 J9 INT J LAW PSYCHIAT JI Int. J. Law Psychiatr. PD JAN-FEB PY 2012 VL 35 IS 1 BP 57 EP 61 DI 10.1016/j.ijlp.2011.11.009 PG 5 WC Law; Psychiatry SC Government & Law; Psychiatry GA 891FH UT WOS:000300202100008 PM 22153834 ER PT J AU Luman, M van Meel, CS Oosterlaan, J Geurts, HM AF Luman, Marjolein van Meel, Catharina S. Oosterlaan, Jaap Geurts, Hilde M. TI Reward and Punishment Sensitivity in Children with ADHD: Validating the Sensitivity to Punishment and Sensitivity to Reward Questionnaire for Children (SPSRQ-C) SO JOURNAL OF ABNORMAL CHILD PSYCHOLOGY LA English DT Article DE ADHD; ASD; ODD; Punishment; Reward; Questionnaire; SPSRQ ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; OPPOSITIONAL DEFIANT DISORDER; DEFICIT-HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; DUAL PATHWAY MODEL; DISINHIBITORY PSYCHOPATHOLOGY; DECISION-MAKING; SELF-REGULATION; DELAY AVERSION; REINFORCEMENT AB This study validates the Sensitivity to Punishment and Sensitivity to Reward Questionnaire for children (SPSRQ-C), using a Dutch sample of 1234 children between 6-13 years old. Factor analysis determined that a 4-factor and a 5-factor solution were best fitting, explaining 41% and 50% of the variance respectively. The 4-factor model was highly similar to the original SPSRQ factors found in adults (Punishment Sensitivity, Reward Responsivity, Impulsivity/Fun-Seeking, and Drive). The 5-factor model was similar to the 4-factor model, with the exception of a subdivision of the Punishment Sensitivity factor into a factor with 'social-fear' items and a factor with 'anxiety' items. To determine external validity, scores of three groups of children with attention deficit hyperactivity disorder (ADHD) were compared on the EFA models: ADHD-only (n = 34), ADHD and autism spectrum disorder (ADHD+ASD; n = 22), ADHD and oppositional defiant disorder (ADHD+ODD; n = 22). All ADHD groups scored higher than typical controls on Reward Responsivity and on the 'anxiety' factor (n = 75). The ADHD-only and ADHD+ODD group scored higher than other groups on Impulsivity/Fun-Seeking and Drive, while the ADHD+ASD group scored higher on Punishment Sensitivity. 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Abnorm. Child Psychol. PD JAN PY 2012 VL 40 IS 1 BP 145 EP 157 DI 10.1007/s10802-011-9547-x PG 13 WC Psychology, Clinical; Psychology, Developmental SC Psychology GA 887KO UT WOS:000299926500013 PM 21789519 ER PT J AU Wasi, N van den Berg, B Buchmueller, TC AF Wasi, Nada van den Berg, Bernard Buchmueller, Thomas C. TI Heterogeneous effects of child disability on maternal labor supply: Evidence from the 2000 US Census SO LABOUR ECONOMICS LA English DT Article DE Child disability; Children's health; Maternal labor supply ID SUPPLEMENTAL SECURITY INCOME; WELFARE PARTICIPATION; HEALTH; WORK; MOTHERS; IMPACT; EMPLOYMENT; PROGRAM; AUTISM; SINGLE AB Previous research has documented a negative relationship between child disability and maternal labor supply. Because of data limitations, most studies in this literature use broad measures of disability, which may obscure important differences among children with limiting health conditions. This paper presents new evidence on the labor supply of women with disabled children, exploiting disability information provided by 2000 US Census. This large nationally representative sample allows us to test for differences across different types of disabling conditions. We find that accounting for this heterogeneity in conditions is important. Using a broad definition of disability results in small differences between women with and without a disabled child. When we use a more detailed classification, we find larger labor supply reductions for mothers of children with physical disabilities or limitations in their ability to care for themselves. There is less evidence that having a child with either mental or emotional limitations or a sensory impairment is negatively related to employment or weekly hours. We also test for heterogeneous effects related to child age and maternal education. We find no clear pattern with respect to age and some evidence that the relationship between child disability and maternal labor supply is stronger for less educated mothers. (C) 2011 Elsevier B.V. All rights reserved. C1 [Wasi, Nada] UNSW, Sch Econ, Sydney, NSW, Australia. [van den Berg, Bernard] Univ York, Ctr Hlth Econ, York YO10 5DD, N Yorkshire, England. [Buchmueller, Thomas C.] Univ Michigan, Ross Sch Business, Ann Arbor, MI 48109 USA. RP Wasi, N (reprint author), UNSW, Sch Econ, Sydney, NSW, Australia. 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PD JAN PY 2012 VL 19 IS 1 BP 139 EP 154 DI 10.1016/j.labeco.2011.09.008 PG 16 WC Economics SC Business & Economics GA 886JF UT WOS:000299850000015 ER PT J AU Lorange, M Kristmundsdottir, K Skarpheoinsson, G Hermannsdottir, BS Oddsdottir, LB Siguroardottir, DB AF Lorange, Malfriour Kristmundsdottir, Kristin Skarpheoinsson, Guomundur Hermannsdottir, Bjorg Sigriour Oddsdottir, Linda Bjork Siguroardottir, Dagbjorg B. TI Relationskip between pre-adoptive risk factors and psychopathological difficulties of internationally adopted children in Iceland SO LAEKNABLADID LA Icelandic DT Article DE adoption; institution; neglect; behavioral and emotional problems ID QUESTIONNAIRE; ATTACHMENT; SYMPTOMS; ROMANIA; AUTISM AB Objective: In recent years a number of children have been adopted to Iceland. The aim of our study was to evaluate which factors may affect their mental and behavioural health. Materials and methods: Information was collected on the health of internationally adopted children in Iceland as well as on pre-adoptive risk factors. This was done using a survey developed by Dr. Dana Johnson from the International Adoption Project at the University of Minnesota in the United States. Other questionnaires include the Child Behavior Checklist (CBCL), Strenghts and Difficulties Questionnaires (SDQ), Attention Deficit/Hyper activity Rating Scale (ADHD-RS-IV) and Austism Spectrum Screening Questionaire (ASSQ). For the comparative analysis data from the general population was used. Results: Children adopted after 18 months of age and who have been institutionalised for 18 months or more showed higher risk for ADHD symptoms and behavioral and emotional problems than the general population. In addition, those who were subject to severe emotional neglect had significantly higher scores on CBCL, SDQ and ADHD-RS. A trend was seen between risk factors and scores on ASSQ. Children adopted before 12 months of age scored within the normal range on all questionnaires. Conclusion: These results suggest that children adopted after 18 months of age are at risk of psychopathological difficulties. These results emphasize the importance of early adoption and of minimizing the time spent in an institution. C1 [Lorange, Malfriour; Kristmundsdottir, Kristin; Skarpheoinsson, Guomundur; Siguroardottir, Dagbjorg B.] Landspitali Univ Hosp, Dept Child & Adolescent Psychiat, Reykjavik, Iceland. [Hermannsdottir, Bjorg Sigriour; Oddsdottir, Linda Bjork] Univ Iceland, Fac Psychol, Reykjavik, Iceland. RP Siguroardottir, DB (reprint author), Landspitali Univ Hosp, Dept Child & Adolescent Psychiat, Reykjavik, Iceland. 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These changes are associated with emotion recognition deficits which represent one of the major barriers to a successful familiar and social reintegration. In the present study, 32 patients with traumatic brain injury, involving the frontal lobe, and 41 age- and education-matched healthy controls were analyzed. A Go/No-Go task was designed, where each participant had to recognize faces representing three social emotions (arrogance, guilt and jealousy). Results suggested that ability to recognize two social emotions (arrogance and jealousy) was significantly reduced in patients with traumatic brain injury, indicating frontal lesion can reduce emotion recognition ability. In addition, the analysis of the results for hemispheric lesion location (right, left or bilateral) suggested the bilateral lesion sub-group showed a lower accuracy on all social emotions. C1 [Martins, Ana Teresa; Faisca, Luis; Muresan, Angelica; Reis, Alexandra] Univ Algarve, Dept Psychol, P-8000000 Faro, Algarve, Portugal. [Esteves, Francisco; Simao, Claudia; Justo, Mariline Gomes] Lisbon Univ Inst, CIS ISCTE IUL, Lisbon, Portugal. RP Martins, AT (reprint author), Univ Algarve, Dept Psychol, P-8000000 Faro, Algarve, Portugal. EM atmartins@ualg.pt RI Reis, Alexandra/A-3888-2013; Faisca, Luis/A-4633-2013; Martins, Ana Teresa/A-8885-2013; GNC, GNC/B-5716-2013 OI Reis, Alexandra/0000-0001-5598-0999; Faisca, Luis/0000-0003-4859-8817; Martins, Ana Teresa/0000-0002-3304-6051; CR Adolphs R, 2006, PROG BRAIN RES, V156, P363, DOI 10.1016/S0079-6123(06)56020-0 Adolphs R, 2009, ANNU REV PSYCHOL, V60, P693, DOI 10.1146/annurev.psych.60.110707.163514 Adolphs R, 2001, J COGNITIVE NEUROSCI, V13, P232, DOI 10.1162/089892901564289 Adolphs R, 2002, J COGNITIVE NEUROSCI, V14, P1264, DOI 10.1162/089892902760807258 Adolphs R, 1999, TRENDS COGN SCI, V3, P369 Ardila A, 2008, BRAIN COGNITION, V68, P92, DOI 10.1016/j.bandc.2008.03.003 Back E, 2008, VIS COGN, V17, P1271 BaronCohen S, 1997, VIS COGN, V4, P311, DOI 10.1080/713756761 Baron-Cohen S, 2001, J CHILD PSYCHOL PSYC, V42, P241, DOI 10.1017/S0021963001006643 Bornhofen C, 2008, J INT NEUROPSYCH SOC, V14, P511, DOI 10.1017/S1355617708080703 BUCK R, 1992, J PERS SOC PSYCHOL, V63, P962, DOI 10.1037/0022-3514.63.6.962 Buck R, 1984, COMMUNICATION EMOTIO, V1st Damasio Antonio R., 1995, DESCARTES ERROR REAS Tamietto M, 2007, NEUROPSYCHOLOGIA, V45, P836, DOI 10.1016/j.neuropsychologia.2006.08.012 Emery NJ, 2001, BEHAV NEUROSCI, V115, P515, DOI 10.1037//0735-7044.115.3.515 Eslinger PJ, 2002, CURR OPIN NEUROL, V15, P91, DOI 10.1097/00019052-200202000-00014 Fiske S. 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Res. PD JAN PY 2012 VL 7 IS 2 BP 101 EP 108 DI 10.3969/j.issn.1673-5374.2012.02.004 PG 8 WC Cell Biology; Neurosciences SC Cell Biology; Neurosciences & Neurology GA 887GO UT WOS:000299915100004 PM 25767483 ER PT J AU Lo, SY AF Lo, Shui Yin TI Diagnosis, Treatment and Prevention of Autism via Meridian Theory SO AMERICAN JOURNAL OF CHINESE MEDICINE LA English DT Article DE Double Helix Water; Meridians; Autistic Symptom Disorder (ASD); Stable Water Clusters ID RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS; CHILDREN; ACUPUNCTURE; DISEASE AB A twelve-week pilot study was conducted on 11 male children, aged five to 19 years, who had ASD (autistic symptom disorder) of varying degrees of severity. These eleven subjects were each examined three times in the 12-week period: at the first week, 6th week, and 12th week. During each examination, two sets of full-body thermographs were taken of each child, before and fifteen minutes after drinking a solution of stable water clusters with a double helix configuration. This solution of stable water clusters is called double helix water (DHW). In the before thermographs, a consistent thermal pattern of six hot regions of body surface temperature were identified. They are: left and right upper forehead region of the face; left and right area in front of the center of the ear; left and right area of the inner extreme point of the eye; left and right collarbone region; left and right side neck region; and left and right armpit region. These areas may be interpreted as regions surrounding various acupoints along the GB, BL, ST, SI, SJ meridians. These meridians are yang meridians that on one end reach the head, and hence have branches reaching into the brain, and on the other end reach to the gastrointestinal tract and urinary bladder system. Thus, they can be considered to explain the major clinical symptoms of ASD. These thermal patterns, if confirmed in a larger clinical study, may lead to a new way to diagnose ASD, and to test the effectiveness of any treatment. When such a thermal pattern is discovered early, say around the age of 18 months, preventive action can be initiated before observation of any behavior disorder. We simultaneously studied the healing effect of stable water clusters with double helix configuration (DHW) on these subjects. The quantitative reduction of maximum temperature at these six regions was calculated. A consistent reduction was noted and suggests a positive healing effect taking place within a very short time period (fifteen minutes), and lasting over a long time period (12 weeks). Quantitative evaluation by the parents over the 12-week period showed that eight out of 11 children had physiological and behavioral improvement. Our findings with these small numbers suggest a reliable method of early diagnosis/detection and also an effective treatment of ASD. We therefore conclude that a study of larger numbers of children with ASD should be conducted. C1 [Lo, Shui Yin] Quantum Hlth Res Inst, Pasadena, CA 91107 USA. [Lo, Shui Yin] Amer Univ Complementary Med, Beverly Hills, CA USA. RP Lo, SY (reprint author), Quantum Hlth Res Inst, 3788 Oakdale Ave, Pasadena, CA 91107 USA. EM ideaclinic@yahoo.com CR Afzal N, 2003, PEDIATRICS, V112, P939, DOI 10.1542/peds.112.4.939 American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Ashwood P, 2006, J LEUKOCYTE BIOL, V80, P1, DOI 10.1189/jlb.1205707 Chan AS, 2009, AM J CHINESE MED, V37, P495 Gann D. L., 2009, DOUBLE HELIX WATER HERBERT, 2005, CLIN NEUROPSYCHIATRY, V2, P354 Hornig M, 2002, MOL PSYCHIATR, V7, pS34, DOI 10.1038/sj.mp.4001182 Horvath K, 2002, CURR OPIN PEDIATR, V14, P583, DOI 10.1097/01.MOP.0000030221.71203.46 Hui KKS, 2010, AUTON NEUROSCI-BASIC, V157, P81, DOI 10.1016/j.autneu.2010.03.022 [贾少微 JIA Shaowei], 2008, [中国中西医结合杂志, Chinese Journal of Integrated Traditional and Western Medicine], V28, P886 Lo SY, 2009, PHYS LETT A, V373, P3872, DOI 10.1016/j.physleta.2009.08.061 Lo S.Y., 2004, BIOPHYSICS BASIS ACU Lo SY, 2002, MED HYPOTHESES, V58, P72, DOI 10.1054/mehy.2001.1453 [马瑞玲 Ma Ruiling], 2006, [中国中西医结合杂志, Chinese Journal of Integrated Traditional and Western Medicine], V26, P419 Silva LMT, 2009, AM J OCCUP THER, V63, P423 Valicenti-McDermott M, 2006, J DEV BEHAV PEDIATR, V27, pS128, DOI 10.1097/00004703-200604002-00011 Wong VCN, 2010, J ALTERN COMPLEM MED, V16, P545, DOI 10.1089/acm.2007.0768 [严愉芬 YAN Yufen], 2007, [中国针灸, Chinese Acupuncture and Moxibustion], V27, P503 YUAN Q, 2009, J ACUPUNCTURE RES, V34, P183 Yuan Q., 2009, ZHONGGUO ZHEN JIU, V34, P177 NR 20 TC 1 Z9 1 PU WORLD SCIENTIFIC PUBL CO PTE LTD PI SINGAPORE PA 5 TOH TUCK LINK, SINGAPORE 596224, SINGAPORE SN 0192-415X J9 AM J CHINESE MED JI Am. J. Chin. Med. PY 2012 VL 40 IS 1 BP 39 EP 56 DI 10.1142/S0192415X12500048 PG 18 WC Integrative & Complementary Medicine; Medicine, General & Internal SC Integrative & Complementary Medicine; General & Internal Medicine GA 884WV UT WOS:000299740500004 PM 22298447 ER PT J AU Beacher, FD Minati, L Baron-Cohen, S Lombardo, MV Lai, MC Gray, MA Harrison, NA Critchley, HD AF Beacher, F. D. Minati, L. Baron-Cohen, S. Lombardo, M. V. Lai, M. -C. Gray, M. A. Harrison, N. A. Critchley, H. D. TI Autism Attenuates Sex Differences in Brain Structure: A Combined Voxel-Based Morphometry and Diffusion Tensor Imaging Study SO AMERICAN JOURNAL OF NEURORADIOLOGY LA English DT Article ID HIGH-FUNCTIONING AUTISM; REGIONAL GRAY-MATTER; SPECTRUM QUOTIENT AQ; ASPERGER-SYNDROME; CORPUS-CALLOSUM; SYSTEMATIZING QUOTIENT; REPETITIVE BEHAVIOR; EMPATHY QUOTIENT; WHITE-MATTER; DISORDERS AB BACKGROUND AND PURPOSE: It has been proposed that autism spectrums condition may represent a form of extreme male brain (EMB), a notion supported by psychometric, behavioral, and endocrine evidence. Yet, limited data are presently available evaluating this hypothesis in terms of neuroanatomy. Here, we investigated sex-related anatomic features in adults with AS, a "pure" form of autism not involving major developmental delay. MATERIALS AND METHODS: Males and females with AS and healthy controls (n = 28 and 30, respectively) were recruited. Structural MR imaging was performed to measure overall gray and white matter volume and to assess regional effects by means of VBM. DTI was used to investigate the integrity of the main white matter tracts. RESULTS: Significant interactions were found between sex and diagnosis in total white matter volume, regional gray matter volume in the right parietal operculum, and fractional anisotropy (FA) in the body of the CC, cingulum, and CR. Post hoc comparisons indicated that the typical sexual dimorphism found in controls, whereby males have larger FA and total white matter volume, was absent or attenuated in participants with AS. CONCLUSIONS: Our results point to a fundamental role of the factors that underlie sex-specific brain differentiation in the etiology of autism. C1 [Beacher, F. D.; Minati, L.; Gray, M. A.; Harrison, N. A.; Critchley, H. D.] Brighton & Sussex Med Sch, Dept Psychiat, Falmer, England. [Beacher, F. D.; Minati, L.; Gray, M. A.; Harrison, N. A.; Critchley, H. D.] Brighton & Sussex Med Sch, Clin Imaging Sci Ctr, Falmer, England. [Beacher, F. D.] SUNY Stony Brook, Sch Med, Dept Biomed Engn, Stony Brook, NY 11794 USA. [Minati, L.] Fdn IRCCS Ist Neurol Carlo Besta, Dept Sci, I-20133 Milan, Italy. [Baron-Cohen, S.; Lombardo, M. V.; Lai, M. -C.] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England. [Gray, M. A.] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia. [Harrison, N. A.; Critchley, H. D.] Sussex Partnership Natl Hlth Serv Fdn Trust, Neurobehav Clin, Brighton, E Sussex, England. [Harrison, N. A.; Critchley, H. D.] Sussex Partnership Natl Hlth Serv Fdn Trust, Neurobehav Clin, Hove, England. [Harrison, N. A.; Critchley, H. D.] Sackler Ctr Consciousness Sci, Falmer, England. RP Minati, L (reprint author), Fdn IRCCS Ist Neurol Carlo Besta, Dept Sci, Via Celoria 11, I-20133 Milan, Italy. EM lminati@ieee.org RI Gray, Marcus/F-6521-2013 OI Gray, Marcus/0000-0001-8671-6939 FU Wellcome Trust [074333]; University of Cambridge; MRC UK; Shirley Foundation; Research Fellowship at Jesus College (Cambridge, UK); Ministry of Education, Taiwan; Italian Ministry of Health; Society of Psychophysiological Research; International Organization for Psychophysiology; International Society for Autonomic Neuroscience FX Hugo D. Critchley, Neil A. Harrison, and Ludovico Minati were supported by a Wellcome Trust Programme grant to Hugo D. Critchley (no. 074333) during the period of this work. All data were acquired at the Clinical Imaging Sciences Centre, Brighton and Sussex Medical School. Simon Baron-Cohen was supported by University of Cambridge and by MRC UK. Michael V. Lombardo was supported by the Shirley Foundation, by a Research Fellowship at Jesus College (Cambridge, UK), and by the Wellcome Trust. Meng-Chuan Lai was supported by the Ministry of Education, Taiwan. Ludovico Minati was employed by the Fondazione IRCCS Istituto Neurologic Carlo Besta during the final period of the study.Ludovico Minati-UNRELATED: Grants/Grants Pending: Italian Ministry of Health; Patents: 1) Caldiroli D, Mined L. Method and Device to Detect the Breathing Pattern at a Distance, even in Presence of Radiation or Intense Electromagnetic Fields. Application no. MI2005A000106 of January 26, 2005; patent no. 0001364602 of July 31, 2009; 2) Minati L, Vitali P. Method and Device to Detect at a Distance Motor Acts Performed by a Person Undergoing Magnetic Resonance Imaging and Not Determined By Physiological Function. Application no. MI2005A001223 of June 29, 2005, patent no. 0001365705 of September 11, 2009. Hugo D. Critchley-UNRELATED: Board Membership Wellcome Trust, Comments: I sit on the Wellcome Trust Clinical Interview Committee: Payment for Lectures (including service on Speakers Bureaus). I have spoken in industry-sponsored events on several occasions in the last 3 years on human behavioral neuroscience, clinical conditions (eg, attention deficit/hyperactivity disorder), and neuroimaging; the contents of my presentations were of my own choosing and were not determined by industry sponsors; Travel/Accommodations/Meeting Expenses Unrelated to Activities Listed: Autonomic/Neuroscience Conference, Comments: I have been a keynote speaker at a number of neuroscience conferences in the past 3 years; the funds to support my attendance and presentations at these conferences were through the conference organizations such as the Society of Psychophysiological Research, the International Organization for Psychophysiology, and the International Society for Autonomic Neuroscience. 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PD JAN PY 2012 VL 33 IS 1 BP 83 EP 89 DI 10.3174/ajnr.A2880 PG 7 WC Clinical Neurology; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA 881MS UT WOS:000299491400015 PM 22173769 ER PT J AU Bagby, MS Dickie, VA Baranek, GT AF Bagby, Molly Shields Dickie, Virginia A. Baranek, Grace T. TI How Sensory Experiences of Children With and Without Autism Affect Family Occupations SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE autistic disorder; family health; family relations; human activities; sensation ID YOUNG-CHILDREN; TYPICAL DEVELOPMENT; PARTICIPATION; DISABILITIES; DISORDERS; PATTERNS AB We used a grounded theory approach to data analysis to discover what effect, if any, children's sensory experiences have on family occupations. We chose this approach because the existing literature does not provide a theory to account for the effect of children's sensory experiences on family occupations. Parents of six children who were typically developing and six children who had autism were interviewed. We analyzed the data using open, axial, and selective coding techniques. Children's sensory experiences affect family occupations in three ways: (1) what a family chooses to do or not do; (2) how the family prepares; and (3) the extent to which experiences, meaning, and feelings are shared. C1 [Dickie, Virginia A.; Baranek, Grace T.] Univ N Carolina, Div Occupat Sci, Dept Allied Hlth Sci, Sch Med, Chapel Hill, NC USA. 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J. Occup. Ther. PD JAN-FEB PY 2012 VL 66 IS 1 BP 78 EP 86 DI 10.5014/ajot.2012.000604 PG 9 WC Rehabilitation SC Rehabilitation GA 879VW UT WOS:000299362000010 PM 22389942 ER PT J AU Enticott, PG Rinehart, NJ Tonge, BJ Bradshaw, JL Fitzgerald, PB AF Enticott, Peter G. Rinehart, Nicole J. Tonge, Bruce J. Bradshaw, John L. Fitzgerald, Paul B. TI Repetitive transcranial magnetic stimulation (rTMS) improves movement-related cortical potentials in autism spectrum disorders SO BRAIN STIMULATION LA English DT Article DE autism; Asperger's disorder; supplementary motor area; EEG; rTMS ID SUPPLEMENTARY-MOTOR-AREA; HIGH-FUNCTIONING AUTISM; HIGH-FREQUENCY RTMS; PARKINSONS-DISEASE; ASPERGERS-DISORDER; CHILDHOOD AUTISM; GAIT FUNCTION; EXCITABILITY; PERFORMANCE; CEREBELLAR AB Background Motor impairments are common in autism spectrum disorders (ASD). Electrophysiologic studies reveal abnormalities in the preparation of movement; repetitive transcranial magnetic stimulation (rTMS) to key motor cortical sites may therefore be a useful technique for improving motor function in ASD. Objective To examine whether rTMS can improve electrophysiologic and behavioral indices of motor activity. Methods Eleven participants with ASD completed three sessions in which they were administered one of three rTMS conditions (left MI, supplementary motor area [SMA], sham) at 1 Hz for 15 minutes. Movement-related cortical potentials (MRCPs) were assessed before and after rTMS. Results rTMS to the SMA was associated with a gradient increase to the early component of MRCPs, whereas rTMS to left MI produced a stronger gradient in the late component. Conclusions rTMS appears to improve movement-related electrophysiologic activity in ASD, perhaps through an influence on cortical inhibitory processes. (C) 2012 Elsevier Inc. All rights reserved. C1 [Fitzgerald, Paul B.] The Alfred, MAPrc, Melbourne, Vic 3004, Australia. [Enticott, Peter G.; Fitzgerald, Paul B.] Monash Univ, Sch Psychol & Psychiat, Monash Alfred Psychiat Res Ctr, Melbourne, Vic 3004, Australia. [Enticott, Peter G.; Rinehart, Nicole J.; Tonge, Bruce J.; Bradshaw, John L.] Monash Univ, Sch Psychol & Psychiat, Ctr Dev Psychiat & Psychol, Clayton, Vic, Australia. RP Enticott, PG (reprint author), The Alfred, MAPrc, 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 Cure Autism Now Foundation; Neurosciences Victoria (Clinical Neurobiology of Psychiatry Platform); NHMRC FX This study was supported by a treatment-related grant from the Cure Autism Now Foundation. Equipment funding was provided in part by Neurosciences Victoria (Clinical Neurobiology of Psychiatry Platform).Dr. P. G. Enticott is supported by a NHMRC Clinical Research Fellowship. Dr. P. B. Fitzgerald is supported by a NHMRC Practitioner Fellowship and has received equipment for TMS-related research from MagVenture A/S and Brainsway Ltd. 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Psychiatry PD JAN PY 2012 VL 200 IS 1 BP 85 EP 85 DI 10.1192/bjp.bp.111.099309 PG 1 WC Psychiatry SC Psychiatry GA 885TZ UT WOS:000299805000033 ER PT J AU Joshi, G Biederman, J Wozniak, J Doyle, R Hammerness, P Galdo, M Sullivan, N Williams, C Brethel, K Woodworth, KY Mick, E AF Joshi, Gagan Biederman, Joseph Wozniak, Janet Doyle, Robert Hammerness, Paul Galdo, Maribel Sullivan, Nora Williams, Courtney Brethel, Kristin Woodworth, K. Yvonne Mick, Eric TI Response to Second Generation Antipsychotics in Youth with Comorbid Bipolar Disorder and Autism Spectrum Disorder SO CNS NEUROSCIENCE & THERAPEUTICS LA English DT Article DE Autism spectrum disorder (ASD); bipolar disorder (BPD); comorbid ID PERVASIVE DEVELOPMENTAL DISORDERS; MANIA RATING-SCALE; DOUBLE-BLIND; OPEN-LABEL; INFANTILE-AUTISM; AGE-CHILDREN; RISPERIDONE; PLACEBO; ADOLESCENTS; TRIAL AB Objective: To assess the impact of comorbid autism spectrum disorders (ASD) on the response to second-generation antipsychotics (SGA) in pediatric bipolar disorder (BPD). Methods: Secondary analysis of identically designed 8-week open-label trials of SGA monotherapy (risperidone, olanzapine, quetiapine, ziprasidone, or aripiprazole) in youth with BPD. Results: Of the 151 BPD subjects 15% (n= 23) met criteria for comorbid ASD. There were no differences in the rate of antimanic response (YMRS change =30% or CGI-Improvement =2: 65% vs. 69%; P= 0.7) in the presence of comorbid ASD. Conclusion: No difference observed in the rate of antimanic response or tolerability to SGA monotherapy in the presence of ASD comorbidity. C1 [Joshi, Gagan] Massachusetts Gen Hosp, Pediat Psychopharmacol Res Program, Pediat Psychopharmacol Res Dept, Boston, MA 02114 USA. [Joshi, Gagan; Biederman, Joseph; Wozniak, Janet; Doyle, Robert; Hammerness, Paul; Mick, Eric] Harvard Univ, Sch Med, Boston, MA USA. RP Joshi, G (reprint author), Massachusetts Gen Hosp, Pediat Psychopharmacol Res Program, Pediat Psychopharmacol Res Dept, 55 Fruit St, Boston, MA 02114 USA. EM Joshi.Gagan@mgh.harvard.edu FU AstraZeneca; Bristol-Myers Squibb; Janssen LP; Pfizer Inc; Stanley Medical Research Institute; Norma Fine Pediatric Psychopharmacology; MGH Pediatric Psychopharmacology Council; American Academy of Child and Adolescent Psychiatry; McNeil Pediatrics; SynerMed Communications; Glaxo Smith Kline; Abbott; Cephalon; Eli Lilly Co.; Johnson Johnson; McNeil; Merck; New River; Novartis; Organon; Otsuka; Takeda; Pfizer; Shire Pharmaceuticals; Elminda; Janssen; Next Wave Pharmaceuticals; Shire; MGH Psychiatry Academy; Fundacion Dr. Manuel Camelo A.C.; Ortho-McNeil Janssen; Eli Lilly; Elminda Ltd; Ortho-McNeil Janssen Scientific Affairs FX This work was supported by grants from industry (AstraZeneca, Bristol-Myers Squibb, Janssen LP, Pfizer Inc) and the Stanley Medical Research Institute to Dr Biederman. We also wish to acknowledge the generous support from the Norma Fine Pediatric Psychopharmacology Fellowship Fund and members of the MGH Pediatric Psychopharmacology Council.Dr. Gagan Joshi has received the Ethel DuPontWarren Fellowship Award 2005-2006 and the Pilot Research Award from the American Academy of Child and Adolescent Psychiatry 2005. He is a reviewer and member of the National Institute of Mental Health Editorial Board. He has received CME sponsored support from McNeil Pediatrics (CME sponsored by SynerMed Communications). He was supported by Shire as a member of the national advisory board for the year 2009. Dr. Joshi has received research support from Bristol Myers Squibb and Glaxo Smith Kline (Site PI for Multi-centered Trials). Dr. Joshi has received research support as a co-investigator for clinical trials sponsored by Abbott, Bristol Myers Squibb, Cephalon, Eli Lilly & Co., Johnson & Johnson, McNeil, Merck, New River, Novartis, Organon, Otsuka, Takeda, Pfizer, and Shire Pharmaceuticals.Dr. Joseph Biederman is currently receiving research support from the following sources: Elminda, Janssen, McNeil, Next Wave Pharmaceuticals, and Shire. In 2011, Dr. Biederman gave a single unpaid talk for Juste Pharmaceutical Spain, and received honoraria from the MGH Psychiatry Academy for a tuition-funded CME course. In 2010, Dr. Biederman received a speaker's fee from Fundacion Dr. Manuel Camelo A.C., provided single consultations for Shionogi Pharma Inc. and Cipher Pharmaceuticals Inc., and received honoraria from the MGH Psychiatry Academy for a tuition-funded CME course.Dr. Paul Hammerness has participated in CME activities/professional talks supported by Ortho-McNeil Janssen and Shire and served on the advisory board for Shire. He has participated, as an investigator/principal investigator, in research studies funded by the following pharmaceutical companies/companies: Cephalon, Eli Lilly, Elminda Ltd, GlaxoSmithKline, Johnson & Johnson, McNeil, Merck, New River, Novartis, Ortho-McNeil Janssen, Pfizer, Shire, Takeda. Dr. Hammerness has also received honoraria from commercial entities supporting the MGH Psychiatry Academy, www.mghcme.org.Dr. Eric Mick has received research support from Ortho-McNeil Janssen Scientific Affairs, Pfizer, Shire Pharmaceuticals, and has been an advisory board member for Shire Pharmaceuticals. 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Ther. PY 2012 VL 18 IS 1 BP 28 EP 33 DI 10.1111/j.1755-5949.2010.00219.x PG 6 WC Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA 881FR UT WOS:000299468500005 PM 21114638 ER PT J AU Thomas, MA Joshi, PP Klaper, RD AF Thomas, Michael A. Joshi, Parag P. Klaper, Rebecca D. TI Gene-class analysis of expression patterns induced by psychoactive pharmaceutical exposure in fathead minnow (Pimephales promelas) indicates induction of neuronal systems SO COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY C-TOXICOLOGY & PHARMACOLOGY LA English DT Article DE GSEA; Fluoxetine; VenlafaxineCarbamazepine; Neurological development; Autism ID ZEBRAFISH DANIO-RERIO; SEROTONIN-REUPTAKE INHIBITORS; WASTE-WATER CONTAMINANTS; SEWAGE-TREATMENT PLANTS; HEALTH-RISK ASSESSMENT; AQUATIC ENVIRONMENT; ALZHEIMERS-DISEASE; SURFACE WATERS; NEUROFIBROMATOSIS TYPE-1; NEUROTRANSMITTER RELEASE AB Psychoactive pharmaceuticals are among the most frequently prescribed drugs, contributing to persistent measurable concentrations in aquatic systems. Typically, it is assumed that such contaminants have no human health implications because they exist in extremely low concentrations. We exposed juvenile fathead minnows (Pimephales promelas) to three pharmaceuticals, fluoxetine, venlafaxine and carbamazepine, individually and in a mixture, and measured their effect on the induction of gene expression in fish brains using microarray analysis. Gene expression changes were accompanied by behavioral changes and validated by qPCR analysis. Gene Set Enrichment Analysis was used to perform gene-class analysis of gene expression. testing for enrichment of gene sets known to be involved in human neuronal development, regulation and growth. We found significant enrichment of gene sets for each of the treatments, with the largest induction of expression by the mixture treatment. These results suggest that the psychoactive pharmaceuticals are able to alter expression of fish genes associated with development, regulation and differentiation of synapses, neurons and neurotransmitters. The results provide a new perspective for the consideration of potential consequence for human health due to environmental exposure to unmetabolized psychoactive pharmaceuticals. (C) 2011 Elsevier Inc. All rights reserved. C1 [Thomas, Michael A.; Joshi, Parag P.] Idaho State Univ, Dept Biol Sci, Pocatello, ID 83209 USA. [Klaper, Rebecca D.] Univ Wisconsin, Great Lakes WATER Inst, Sch Freshwater Sci, Milwaukee, WI 53204 USA. RP Thomas, MA (reprint author), Idaho State Univ, Dept Biol Sci, Stop 8007,921 S 8th Ave, Pocatello, ID 83209 USA. EM mthomas@isu.edu RI Thomas, Michael/B-7489-2008 OI Thomas, Michael/0000-0003-2982-0291 FU PhRMA Foundation; NIH [P20 RR016454]; National Center for Research Resources,; University Research Committee of Idaho State University FX MAT was supported by the PhRMA Foundation (Sabbatical Fellowship), NIH Grant Number P20 RR016454 from the INBRE Program of the National Center for Research Resources, and grant number URC-FY2010-05 from the University Research Committee of Idaho State University. T. Peterson provided statistical advice for the behavioral study. D. Arndt and J. Crago provided support and expertise on lab techniques and fish handling. C. Ryan and E. J-O'L. provided critical expertise in support of the qPCR analysis. P. Hallock, L Yang and G. Kaushik provided feedback on an early draft of the manuscript. 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Biochem. Physiol. C-Toxicol. Pharmacol. PD JAN PY 2012 VL 155 IS 1 SI SI BP 109 EP 120 DI 10.1016/j.cbpc.2011.05.014 PG 12 WC Biochemistry & Molecular Biology; Endocrinology & Metabolism; Toxicology; Zoology SC Biochemistry & Molecular Biology; Endocrinology & Metabolism; Toxicology; Zoology GA 869DC UT WOS:000298574900015 PM 21684349 ER PT J AU Sell, NK Giarelli, E Blum, N Hanlon, AL Levy, SE AF Sell, Neelam Kharod Giarelli, Ellen Blum, Nathan Hanlon, Alexandra L. Levy, Susan E. TI A comparison of Autism Spectrum Disorder DSM-IV criteria and associated features among African American and white children in Philadelphia County SO DISABILITY AND HEALTH JOURNAL LA English DT Article DE Population based surveillance; Autism spectrum disorders; Race/ethnicity; Associated features; DSM criteria ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; RACIAL-DIFFERENCES; UNITED-STATES; DIAGNOSIS; RACE; AGE; SURVEILLANCE; PREVALENCE; ETHNICITY AB Background: Racial differences are documented in the timing and type of autism spectrum disorder (ASD) diagnosis among white and African American children. Differences in clinical presentation by race may contribute to these disparities. This study explores documented differences in core ASD symptoms and associated behavioral features among African American and white children. Methods: This project is a secondary data analysis from the Pennsylvania Autism and Developmental Disabilities Surveillance Program and utilized methodology that evaluates existing records, reviews, and codes for DSM-IV criteria for ASD and 12 associated behavioral features. The sample comprised 343 children meeting surveillance case definition for ASD, from 3 population-based cohorts of children in Philadelphia County. Results: A higher frequency of white children compared to African American children with ASD have documented DSM-IV criteria of inflexible adherence to nonfunctional routines/rituals (92% vs 81%; p = .005) and persistent preoccupation with parts of objects (67% vs 50%; p = .002). A higher frequency of white children with ASD compared to African American children with ASD have documented abnormal motor development (74% vs 60%; p = .008) and odd responses to sensory stimuli (76% vs 51%; p < .001). There were no significant differences in externalizing behaviors or reciprocal social interaction. Conclusions: This study suggests differences in the types of ASD symptoms and associated behavioral features exhibited by African American as compared to white children with ASD. Further research is needed to determine if these differences contribute to disparities in the timing or type of ASD diagnosis. (C) 2012 Elsevier Inc. All rights reserved. C1 [Sell, Neelam Kharod; Blum, Nathan; Levy, Susan E.] Childrens Hosp Philadelphia, Div Child Dev Rehabil & Metab Dis, Philadelphia, PA 19104 USA. [Giarelli, Ellen; Hanlon, Alexandra L.] Univ Penn, Sch Nursing, Philadelphia, PA 19104 USA. [Blum, Nathan; Levy, Susan E.] Univ Penn, Sch Med, Philadelphia, PA 19104 USA. RP Sell, NK (reprint author), Childrens Hosp, Monmouth Med Ctr, 300 2nd Ave, Long Branch, NJ 07740 USA. EM nsell@barnabashealth.org FU Maternal and Child Health Bureau (Title V. Social Security Act), Health Resources and Services Administration, Department of Health and Human Services [T77 MC 0012]; Centers for Disease Control and Prevention (CDC) FX This work was supported in part by the Project #T77 MC 0012 from the Maternal and Child Health Bureau (Title V. Social Security Act), Health Resources and Services Administration, Department of Health and Human Services. The data represented in this report were collected by the Autism and Developmental Disabilities Monitoring (ADDM) Network Surveillance years 2002, 2006, and 2008 supported by the Centers for Disease Control and Prevention (CDC). The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the CDC. The Principal Investigator of the Pennsylvania Autism and Developmental Disabilities Surveillance Program is Ellen Giarelli, Ed.D., R.N., C.R.N.P. The authors have no additional financial disclosures or conflicts of interest to report. 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PD JAN PY 2012 VL 5 IS 1 BP 9 EP 17 DI 10.1016/j.dhjo.2011.08.002 PG 9 WC Health Care Sciences & Services; Health Policy & Services; Public, Environmental & Occupational Health; Rehabilitation SC Health Care Sciences & Services; Public, Environmental & Occupational Health; Rehabilitation GA 883CJ UT WOS:000299609900002 PM 22226293 ER PT J AU Schieve, LA Boulet, SL Blumberg, SJ Kogan, MD Yeargin-Allsopp, M Boyle, CA Visser, SN Rice, C AF Schieve, Laura A. Boulet, Sheree L. Blumberg, Stephen J. Kogan, Michael D. Yeargin-Allsopp, Marshalyn Boyle, Coleen A. Visser, Susanna N. Rice, Catherine TI Association between parental nativity and autism spectrum disorder among US-born non-Hispanic white and Hispanic children, 2007 National Survey of Children's Health SO DISABILITY AND HEALTH JOURNAL LA English DT Article DE Autistic disorder; Developmental disabilities; Prevalence; Population group; Race; Hispanic; Place of birth ID PERINATAL RISK-FACTORS; INFANTILE-AUTISM; DIAGNOSIS; BIRTH; AGE AB Background: Limited studies suggest the prevalence of autism spectrum disorders (ASD) varies by whether maternal and child birth country are discordant. Objective/Hypothesis: We explored associations between ASD and maternal and paternal nativity in a sample of US-born non-Hispanic white (NHW, n = 37,265) and US-born Hispanic (n = 4,690) children in the 2007 National Survey of Children's Health (NSCH). Methods: We assessed ASD prevalence within race-ethnicity and parental nativity subgroups. Prevalence ratios (aPR), comparing each group to NHW children with 2 US-born parents, were adjusted for child age, sex, and receipt of care in a medical home. Estimates were weighted to reflect US noninstitutionalized children. Standard errors were adjusted to account for the complex sample design. Results: In NHW children with 2 US-born parents, ASD prevalence was 1.19%; estimates were similar for NHW children with a foreign-born mother or father. There was a striking heterogeneity between Hispanic children with 2 US-born versus 2 foreign-born parents (ASD prevalence 2.39% versus 0.31%, p = .05). Even after adjustment, PRs comparing ASD prevalence in Hispanic versus NHW children were vastly different for Hispanic subgroups, suggesting a substantially lower prevalence for Hispanic children with both parents foreign-born (aPR 0.2, 95% confidence interval 0.1-0.5) and a higher prevalence for Hispanic children with both parents US-born (aPR 2.0 [0.8-4.6]). Conclusions: Previous studies comparing ASD prevalence between NHW and Hispanic children based on a composite Hispanic grouping without consideration of parental nativity likely missed important differences between these racial-ethnic groups. Continuing efforts toward improving early identification in Hispanic children are needed. Published by Elsevier Inc. C1 [Schieve, Laura A.; Boulet, Sheree L.; Yeargin-Allsopp, Marshalyn; Boyle, Coleen A.; Visser, Susanna N.; Rice, Catherine] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA. [Blumberg, Stephen J.] Ctr Dis Control & Prevent, Natl Ctr Hlth Stat, Hyattsville, MD 20782 USA. [Kogan, Michael D.] Maternal & Child Hlth Bur, US Hlth Resources & Serv Adm, Rockville, MD 20857 USA. RP Schieve, LA (reprint author), MS E-86,1600 Clifton Rd, Atlanta, GA USA. EM LSchieve@cdc.gov CR American Academy of Pediatrics Medical Home Initiatives for Children With Special Needs Project Advisory Committee, 2004, PEDIATRICS, V113, P1545 American Psychiatric Association, 2000, DIAGN STAT MAN MENT Blumberg SJ, 2009, VITAL HLTH STAT, V1 CDC (Cent. Dis. Control Prev.), 2009, MMWR-MORBID MORTAL W, V58, P1 Croen LA, 2002, J AUTISM DEV DISORD, V32, P217, DOI 10.1023/A:1015405914950 Durkin MS, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0011551 Durkin MS, 2008, AM J EPIDEMIOL, V168, P1268, DOI 10.1093/aje/kwn250 El-Fishawy P, 2010, PSYCHIAT CLIN N AM, V33, P83, DOI 10.1016/j.psc.2009.12.002 Fountain C, 2011, J EPIDEMIOL COMMUN H, V65, P503, DOI 10.1136/jech.2009.104588 Garrison EG, 1999, CLIN PSYCHOL REV, V19, P199, DOI 10.1016/S0272-7358(98)00070-1 Hultman CM, 2002, EPIDEMIOLOGY, V13, P417, DOI 10.1097/01.EDE.0000016968.14007.E6 Kogan MD, 2009, PEDIATRICS, V124, P1395, DOI 10.1542/peds.2009-1522 Landrigan PJ, 2010, CURR OPIN PEDIATR, V22, P219, DOI 10.1097/MOP.0b013e328336eb9a Lassetter Jane H, 2004, J Pediatr Nurs, V19, P184, DOI 10.1016/j.pedn.2004.01.007 Lauritsen MB, 2005, J CHILD PSYCHOL PSYC, V46, P963, DOI 10.1111/j.1469-7610.2004.00391.x Maimburg RD, 2006, ACTA PSYCHIAT SCAND, V114, P257, DOI 10.1111/j.1600-0447.2006.00805.x Schieve L. A., 2006, Morbidity and Mortality Weekly Report, V55, P481 Williams K, 2008, CHILD CARE HLTH DEV, V34, P249, DOI 10.1111/j.1365-2214.2007.00796.x NR 18 TC 6 Z9 6 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1936-6574 J9 DISABIL HEALTH J JI Brain Stimul. PD JAN PY 2012 VL 5 IS 1 BP 18 EP 25 DI 10.1016/j.dhjo.2011.09.001 PG 8 WC Health Care Sciences & Services; Health Policy & Services; Public, Environmental & Occupational Health; Rehabilitation SC Health Care Sciences & Services; Public, Environmental & Occupational Health; Rehabilitation GA 883CJ UT WOS:000299609900003 PM 22226294 ER PT J AU Peacock, G Lin, SC AF Peacock, Georgina Lin, Sue C. TI Enhancing early identification and coordination of intervention services for young children with autism spectrum disorders: Report from the Act Early Regional Summit Project SO DISABILITY AND HEALTH JOURNAL LA English DT Article DE Autism; Early identification AB Background: Increasing prevalence of autism spectrum disorders (ASD) and the merits of early intervention support the importance of early identification and detection. The Act Early Initiative attempts to address the states' capacity to support this process of early identification and early intervention. Objective: The Centers for Disease Control and Prevention (CDC) Health Resources and Services Administration (HRSA) collaborated with the Association of University Centers on Disabilities (AUCD) to develop strategies that will address state capacity for responding to the increasing demand for earlier identification, earlier diagnoses, and coordination of service systems for children with ASDs and other developmental disabilities (DD). Methods: Act Early regional summits were held to engage stakeholders from the early detection and intervention community including parents, state agencies, provider groups, autism and related disability organizations, and academia. The stakeholders then used the Logic Model to facilitate the teams' planning process. The Logic Model enables teams to understand the strengths and gaps within their state resources and plan specific activities to achieve concrete outcomes. Results: States identified opportunities and challenges in early identification of children with delay. One of the particular challenges identified were low income, rural and non-English speaking populations encountering more challenges than others in accessing diagnosis and early intervention services. Conclusions: The Summits are a unique model that demonstrates the importance of developing comprehensive state plans to advance the collaboration and coordination of early detection and intervention service systems for children with ASDs and related DDs from all racial, ethnic, geographical, and socioeconomic backgrounds. Published by Elsevier Inc. C1 [Peacock, Georgina] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA. [Lin, Sue C.] Assoc Univ Ctr Disabil, Silver Spring, MD 20910 USA. RP Peacock, G (reprint author), 1600 Clifton Rd,MS E-86, Atlanta, GA USA. EM gpeacock@cdc.gov FU National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention [U01DD000231]; Association of University Centers on Disabilities FX The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. Ms. Lin's work on the Act Early Summit initiative was supported by the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention through Cooperative Agreement U01DD000231 with the Association of University Centers on Disabilities. The authors have no conflicts of interest to report. CR [Anonymous], 2009, MMWR SURVEILL SUMM, V58, P1 [Anonymous], 2007, LEARN SIGNS ACT EARL Bryson SE, 2003, CAN J PSYCHIAT, V48, P506 Shattuck PT, 2008, J AM ACAD CHILD ADOL, V48, P474 Task Force on DSM-IV, 2000, DIAGN STAT MAN MENT W. K. Kellogg Foundation, 2004, LOG MOD DEV GUID NR 6 TC 0 Z9 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1936-6574 J9 DISABIL HEALTH J JI Brain Stimul. PD JAN PY 2012 VL 5 IS 1 BP 55 EP 59 DI 10.1016/j.dhjo.2011.10.001 PG 5 WC Health Care Sciences & Services; Health Policy & Services; Public, Environmental & Occupational Health; Rehabilitation SC Health Care Sciences & Services; Public, Environmental & Occupational Health; Rehabilitation GA 883CJ UT WOS:000299609900008 PM 22226299 ER PT J AU Kaslow, NJ Broth, MR Smith, CO Collins, MH AF Kaslow, Nadine J. Broth, Michelle Robbins Smith, Chaundrissa Oyeshiku Collins, Marietta H. TI Family-Based Interventions for Child and Adolescent Disorders SO JOURNAL OF MARITAL AND FAMILY THERAPY LA English DT Article ID POSITIVE PARENTING PROGRAM; OBSESSIVE-COMPULSIVE DISORDER; COGNITIVE-BEHAVIORAL THERAPY; MULTIFAMILY PSYCHOEDUCATION GROUPS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; RANDOMIZED CONTROLLED TREATMENT; PEDIATRIC-BIPOLAR-DISORDER; ONSET CONDUCT PROBLEMS; 2-YEAR FOLLOW-UP; TRIPLE-P AB Emotional and behavioral symptoms and disorders are prevalent in children and adolescents. There has been a burgeoning literature supporting evidence-based treatments for these disorders. Increasingly, family-based interventions have been gaining prominence and demonstrating effectiveness for myriad childhood and adolescent disorders. This article presents the current evidence in support of family-based interventions for mood, anxiety, attention-deficit hyperactivity, disruptive behavior, pervasive developmental particularly autism spectrum, and eating disorders. This review details recent data from randomized controlled trials (RCTs) and promising interventions not yet examined using a randomized controlled methodology. It highlights the evidence base supporting various specific family-based interventions, some of which are disorder dependent. A practitioner perspective is then offered with regard to recommendations for future practice and training. The article closes with a summary and directions for future research. C1 [Kaslow, Nadine J.; Smith, Chaundrissa Oyeshiku; Collins, Marietta H.] Emory Univ, Dept Psychiat & Behav Sci, Atlanta, GA 30322 USA. [Broth, Michelle Robbins] Georgia Gwinnett Coll, Dept Psychol, Lawrenceville, GA USA. RP Kaslow, NJ (reprint author), Grady Hlth Syst, Dept Psychiat & Behav Sci, 80 Jesse Hill Jr Dr, Atlanta, GA 30303 USA. 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Mink, Jonathan W. Thompson, William W. TI Thimerosal Exposure in Early Life and Neuropsychological Outcomes 7-10 Years Later SO JOURNAL OF PEDIATRIC PSYCHOLOGY LA English DT Article DE children; modeling; neuropsychology; public health; structural equation ID VACCINE SAFETY DATALINK; COMORBIDITIES A-TAC; GOODNESS-OF-FIT; TELEPHONE INTERVIEW; AUTISM-TICS; METHYLMERCURY EXPOSURE; COVARIANCE-STRUCTURES; TOURETTE-SYNDROME; CHILDREN; INDEXES AB Objective The authors used a public use data set to investigate associations between the receipt of thimerosal-containing vaccines and immune globulins early in life and neuropsychological outcomes assessed at 7-10 years. Methods The data were originally created by evaluating 1,047 children ages 7-10 years and their biological mothers. This study developed seven latent neuropsychological factors and regressed them on a comprehensive set of covariates and thimerosal exposure variables. Results The authors found no statistically significant associations between thimerosal exposure from vaccines early in life and six of the seven latent constructs. There was a small, but statistically significant association between early thimerosal exposure and the presence of tics in boys. Conclusions This finding should be interpreted with caution due to limitations in the measurement of tics and the limited biological plausibility regarding a causal relationship. C1 [Barile, John P.; Thompson, William W.] US Ctr Dis Control & Prevent, Div Adult & Community Hlth, Natl Ctr Chron Dis Prevent & Hlth Promot, Atlanta, GA 30331 USA. [Barile, John P.; Kuperminc, Gabriel P.] Georgia State Univ, Dept Psychol, Atlanta, GA 30303 USA. [Weintraub, Eric S.] US Ctr Dis Control & Prevent, Immunizat Safety Off, Atlanta, GA 30331 USA. [Mink, Jonathan W.] Univ Rochester, Med Ctr, Rochester, NY 14627 USA. 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W., 2001, WOODCOCKJOHNSON NR 59 TC 10 Z9 11 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0146-8693 J9 J PEDIATR PSYCHOL JI J. Pediatr. Psychol. PD JAN-FEB PY 2012 VL 37 IS 1 BP 106 EP 118 DI 10.1093/jpepsy/jsr048 PG 13 WC Psychology, Developmental SC Psychology GA 885NT UT WOS:000299786400011 PM 21785120 ER PT J AU Whittaker, CA AF Whittaker, Christopher A. TI The speech aversion hypothesis has explanatory power in a Minimal Speech Approach to aloof, non-verbal, severe autism SO MEDICAL HYPOTHESES LA English DT Article ID RECEPTIVE LANGUAGE DISORDER; LANDAU-KLEFFNER-SYNDROME; SPECTRUM DISORDERS; NATURALISTIC OBSERVATIONS; EXPRESSIVE COMMUNICATION; INTELLECTUAL DISABILITY; CLINICAL-APPLICATIONS; DIAGNOSTIC INTERVIEW; REPETITIVE BEHAVIOR; CHILDHOOD AUTISM AB In the search for 'pure autism', non-verbal children labeled aloof, Severely Autistic with Developmental Disabilities (ASA/DD), are routinely excluded from psychological research. This exclusion is predicated on the claim that they are indistinguishable from those with SLD/PMLD, which is refuted through a discussion of the extant literature. A novel, falsifiable, speech aversion hypothesis is proposed: "aloof, non-verbal young children (<7 years), with severe autism (CARS >= 37), but without significant dysmorphic features, will show aversive reactions to complex speech (>2-3 words), but not to a silent interlocutor, or one imitating their vocalizations, in proximal encounters." Implications are examined by deconstructing the presenting symptoms of ASA/DD in response to the hypothesis. Supporting evidence is drawn from: Minimal Speech Approach (MSA) research showing high levels of spontaneous requests for social routines; a reinterpretation of still-face research as a still-(silent)-face paradigm; auditory processing MMN data employing EEG/MEG; and possible links to epileptiform activity and verbal auditory agnosia. Guidelines are established for future research. This hypothesis, if corroborated, would add to the auditory processing anomalies seen in severe autism and lead to synergies of existing and new areas of research, with significant theoretical, therapeutic, and educational implications. (C) 2011 Elsevier Ltd. All rights reserved. C1 Manchester Metropolitan Univ, Res Inst Hlth & Social Change, Manchester M13 0JA, Lancs, England. RP Whittaker, CA (reprint author), Manchester Metropolitan Univ, Res Inst Hlth & Social Change, Elizabeth Gaskell Campus,Hathersage Rd, Manchester M13 0JA, Lancs, England. 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Hypotheses PD JAN PY 2012 VL 78 IS 1 BP 15 EP 22 DI 10.1016/j.mehy.2011.09.031 PG 8 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 881AZ UT WOS:000299453000005 PM 22004986 ER PT J AU Kim, S Pickup, S Fairless, AH Ittyerah, R Dow, HC Abel, T Brodkin, ES Poptani, H AF Kim, Sungheon Pickup, Stephen Fairless, Andrew H. Ittyerah, Ranjit Dow, Holly C. Abel, Ted Brodkin, Edward S. Poptani, Harish TI Association between sociability and diffusion tensor imaging in BALB/cJ mice SO NMR IN BIOMEDICINE LA English DT Article DE sociability; diffusion tensor imaging; MRI; mouse; autism ID INBRED MOUSE STRAINS; CORPUS-CALLOSUM; WHITE-MATTER; SOCIAL REWARD; GRAY-MATTER; AUTISM; BRAIN; PHENOTYPES; BEHAVIOR; NEUROANATOMY AB The purpose of this study was to use high-resolution diffusion tensor imaging (DTI) to investigate the association between DTI metrics and sociability in BALB/c inbred mice. The sociability of prepubescent (30-day-old) BALB/cJ mice was operationally defined as the time that the mice spent sniffing a stimulus mouse in a social choice test. High-resolution ex vivo DTI data on 12 BALB/cJ mouse brains were acquired using a 9.4-T vertical-bore magnet. Regression analysis was conducted to investigate the association between DTI metrics and sociability. Significant positive regression (p<0.001) between social sniffing time and fractional anisotropy was found in 10 regions located in the thalamic nuclei, zona incerta/substantia nigra, visual/orbital/somatosensory cortices and entorhinal cortex. In addition, significant negative regression (p<0.001) between social sniffing time and mean diffusivity was found in five areas located in the sensory cortex, motor cortex, external capsule and amygdaloid region. In all regions showing significant regression with either the mean diffusivity or fractional anisotropy, the tertiary eigenvalue correlated negatively with the social sniffing time. This study demonstrates the feasibility of using DTI to detect brain regions associated with sociability in a mouse model system. Copyright (c) 2011 John Wiley & Sons, Ltd. C1 [Kim, Sungheon] NYU, Sch Med, Dept Radiol, Ctr Biomed Imaging, New York, NY 10016 USA. [Kim, Sungheon; Pickup, Stephen; Ittyerah, Ranjit; Poptani, Harish] Univ Penn, Sch Med, Dept Radiol, Philadelphia, PA 19104 USA. [Fairless, Andrew H.; Dow, Holly C.; Brodkin, Edward S.] Univ Penn, Sch Med, Dept Psychiat, Ctr Neurobiol & Behav,Translat Res Lab, Philadelphia, PA 19104 USA. [Abel, Ted] Univ Penn, Dept Biol, Lynch Labs 204G, Philadelphia, PA 19104 USA. RP Kim, S (reprint author), NYU, Sch Med, Dept Radiol, Ctr Biomed Imaging, 660 1st Ave,4th Floor, New York, NY 10016 USA. EM Sungheon.Kim@nyumc.org FU NIH [R01MH080718, R21 HD058237]; University of Pennsylvania Translational Biomedical Imaging Center FX The following grant support was provided: NIH R01MH080718 (ESB), NIH R21 HD058237 (HP) and the University of Pennsylvania Translational Biomedical Imaging Center Collaborative Pilot Grant Program (ESB and HP). 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PD JAN PY 2012 VL 25 IS 1 BP 104 EP 112 DI 10.1002/nbm.1722 PG 9 WC Biophysics; Radiology, Nuclear Medicine & Medical Imaging; Spectroscopy SC Biophysics; Radiology, Nuclear Medicine & Medical Imaging; Spectroscopy GA 875ZF UT WOS:000299074600012 PM 21618305 ER PT J AU Furnham, A Winceslaus, J AF Furnham, Adrian Winceslaus, Julian TI Psychiatric Literacy and the Personality Disorders SO PSYCHOPATHOLOGY LA English DT Article DE Personality disorders; Mental health literacy of lay people ID MENTAL-HEALTH LITERACY; MAJOR DEPRESSION; PUBLICS ABILITY; SOCIAL DISTANCE; ILLNESS; BELIEFS; SCHIZOPHRENIA; PREVALENCE; PEOPLE; COMORBIDITY AB Background: This study was concerned with investigating the mental health literacy of lay people in regard to the personality disorders. Method: 223 participants responded to a questionnaire entitled 'eccentric people' which contained vignettes of 10 personality disorders which they rated as well as labelled. Results: Lay people recognize people with personality disorders as being unhappy, unsuccessful at work and as having poor personal relationships, but do not associate these problems with psychological causes. Rates of correct labelling were under 7% for 7/10 personality disorders. Cluster A (apart from paranoid) was commonly labelled as depression or as an autism spectrum disorder. Clusters B and C (apart from obsessive-compulsive) were commonly labelled as 'low self-esteem'. History of psychological education and illness were positively correlated with correct recognition of 70 and 60% of the personality disorders, respectively. Conclusion: The mental health literacy of lay people in regard to the personality disorders is low. This raises concerns for health-seeking behaviour and diagnosis, as well as stigma and social neglect of people living with personality disorders. 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EM jag90@columbia.edu FU US National Institute of Mental Health [MH67068, MH077235, MH080234]; Simons Foundation FX Work described in this article has been supported by US National Institute of Mental Health grants MH67068, MH077235 and MH080234 and by a grant from the Simons Foundation. We thank Maria Karayiorgou, Amy MacDermott and Gerald Fischbach for useful discussions. We also thank members of the Gogos and Karayiorgou laboratories (especially Bin Xu, Kim Stark, Karine Fenelon and Liam Drew) for their contributions to the work described here and Laura Rodriguez Murillo for help in preparing Figure 1. 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Scand. PD JAN PY 2012 VL 125 IS 1 BP 33 EP 38 DI 10.1111/j.1600-0447.2011.01778.x PG 6 WC Psychiatry SC Psychiatry GA 861YP UT WOS:000298057300007 PM 22040029 ER PT J AU Smith, LE Barker, ET Seltzer, MM Abbeduto, L Greenberg, JS AF Smith, Leann E. Barker, Erin T. Seltzer, Marsha Mailick Abbeduto, Leonard Greenberg, Jan S. TI Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE fragile X syndrome; autism; adolescence; adulthood ID AUTISM SPECTRUM DISORDER; DEVELOPMENTAL DISORDERS; ADAPTIVE-BEHAVIOR; YOUNG-CHILDREN; FMR1 GENE; SYMPTOMS; INDIVIDUALS; PREVALENCE; LANGUAGE; SKILLS AB The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. 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PD JAN PY 2012 VL 117 IS 1 BP 1 EP 17 DI 10.1352/1944-7558-117.1.1 PG 17 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 880XX UT WOS:000299445000001 PM 22264109 ER PT J AU McDuffie, A Kover, S Abbeduto, L Lewis, P Brown, T AF McDuffie, Andrea Kover, Sara Abbeduto, Leonard Lewis, Pamela Brown, Ted TI Profiles of Receptive and Expressive Language Abilities in Boys With Comorbid Fragile X Syndrome and Autism SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE fragile X syndrome; autism; language ID DIAGNOSTIC-OBSERVATION-SCHEDULE; YOUNG-CHILDREN; DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; REVISED ALGORITHMS; BEHAVIOR PROFILE; DOWN-SYNDROME; MALES; INDIVIDUALS; IMPAIRMENT AB The authors examined receptive and expressive language profiles for a group of verbal male children and adolescents who had fragile X syndrome along with varying degrees of autism symptoms. A categorical approach for assigning autism diagnostic classification, based on the combined use of the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule (ADOS), and a continuous approach for representing autism symptom severity, based on ADOS severity scores, were used in 2 separate sets of analyses. All analyses controlled for nonverbal IQ and chronological age. Nonverbal IQ accounted for significant variance in all language outcomes with large effect sizes. Results of the categorical analyses failed to reveal an effect of diagnostic group (fragile X syndrome-autism, fragile X syndrome-no autism) on standardized language test performance. Results of the continuous analyses revealed a negative relationship between autism symptom severity and all of the standardized language measures. Implications for representing autism symptoms in fragile X syndrome research are considered. 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T., 1997, EXPRESSIVE VOCABULAR Zimmerman I.L., 1992, PRESCHOOL LANGUAGE S NR 57 TC 11 Z9 12 PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES PI WASHINGTON PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA SN 1944-7515 J9 AJIDD-AM J INTELLECT JI AJIDD-Am. J. Intellect. Dev. Disabil. PD JAN PY 2012 VL 117 IS 1 BP 18 EP 32 DI 10.1352/1944-7558-117.1.18 PG 15 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 880XX UT WOS:000299445000002 PM 22264110 ER PT J AU Taylor, JL Hodapp, RM AF Taylor, Julie Lounds Hodapp, Robert M. TI Doing Nothing: Adults With Disabilities With No Daily Activities and Their Siblings SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article ID DOWN-SYNDROME; PANEL-DATA; AUTISM; TRANSITION; FAMILIES; OUTCOMES; HEALTH; UNEMPLOYMENT; INDIVIDUALS; DISORDERS AB A significant concern of parents and professionals is that adults with intellectual and developmental disabilities will go without regular educational-vocational activities. The authors examined predictors of such inactivity in individuals with intellectual and developmental disabilities, as well as how inactivity related to their sibling's well-being and the sibling relationship. Participants included 796 siblings of adults with intellectual and developmental disabilities who responded to a web-based survey. Nearly 13% of adults with intellectual and developmental disabilities were without daytime activities; these adults had more emotional-behavioral and health problems, were more underserved by the formal service system, and had parents who were less able to provide care. Although siblings of adults without activities reported more depressive symptoms, worse health, and less close sibling relationships, inactivity no longer predicted these problems after controlling for characteristics that predisposed adults with intellectual and developmental disabilities to have no activities. C1 [Taylor, Julie Lounds; Hodapp, Robert M.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA. [Taylor, Julie Lounds] Vanderbilt Univ, Sch Med, Nashville, TN 37203 USA. [Taylor, Julie Lounds] Vanderbilt Univ, Monroe Carell Jr Childrens Hosp, Nashville, TN 37203 USA. [Hodapp, Robert M.] Vanderbilt Univ, Peabody Coll, Nashville, TN 37203 USA. RP Taylor, JL (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, 406A,1 Magnolia Circle,Peabody Mail Box 40-230,Ap, Nashville, TN 37203 USA. 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PD JAN PY 2012 VL 117 IS 1 BP 67 EP 79 DI 10.1352/1944-7558-117.1.67 PG 13 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 880XX UT WOS:000299445000005 PM 22264113 ER PT J AU Lim, F Downs, J Li, JH Bao, XH Leonard, H AF Lim, Faye Downs, Jenny Li, Jianghong Bao, Xin-Hua Leonard, Helen TI Barriers to Diagnosis of a Rare Neurological Disorder in China-Lived Experiences of Rett Syndrome Families SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE China; Rett syndrome; diagnosis; developing countries; qualitative research ID AUTISM SPECTRUM DISORDER; HONG-KONG; CHILDREN; PARENTS; HEALTH; DISABILITIES; INCOME; MECP2; INEQUALITY; MUTATIONS AB Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer have received a diagnosis. Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. Telephone interviews were conducted in Mandarin to explore pathways to a diagnosis of Rett syndrome in China and associated barriers. Families consulted multiple clinical centers and eventually received a diagnosis at a centrally located hospital. Over the course of this pathway, families encountered lack of knowledge and diagnostic expertise for Rett syndrome at local levels and a heavily over-burdened hospital system. There was a paucity of information available to guide management of this rare disorder after the diagnosis had been received. Our study suggests that the frustrations experienced by families could in part be addressed by the provision of information, education, and training related to Rett syndrome for clinicians, additional resources to allow clinicians to request genetic testing for confirmation of the clinical diagnosis and for information and support services for families. (C) 2011 Wiley Periodicals, Inc. C1 [Lim, Faye; Downs, Jenny; Li, Jianghong; Leonard, Helen] Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA, Australia. [Downs, Jenny] Curtin Univ, Sch Physiotherapy, Bentley, WA, Australia. [Downs, Jenny] Curtin Univ, Curtin Hlth Innovat Res Inst, Bentley, WA, Australia. [Li, Jianghong] Curtin Univ, Curtin Hlth Innovat Res Inst, Ctr Populat Hlth Res, Bentley, WA, Australia. [Bao, Xin-Hua] Peking Univ, Dept Paediat, Hosp 1, Beijing 100871, Peoples R China. RP Leonard, H (reprint author), Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA 6872, Australia. 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Genet. A PD JAN PY 2012 VL 158A IS 1 BP 1 EP 9 DI 10.1002/ajmg.a.34351 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA 880CJ UT WOS:000299381800003 PM 22106023 ER PT J AU Millson, A LaGrave, D Willis, MJH Rowe, LR Lyon, E South, ST AF Millson, Alison LaGrave, Danielle Willis, Mary J. H. Rowe, Leslie R. Lyon, Elaine South, Sarah T. TI Chromosomal Loss of 3q26.3-3q26.32, Involving a Partial Neuroligin 1 Deletion, Identified by Genomic Microarray in a Child With Microcephaly, Seizure Disorder, and Severe Intellectual Disability SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE array CGH; NLGN1; microdeletion ID COPY-NUMBER VARIATION; INHIBITORY SYNAPSES; 16P13.11 PREDISPOSE; CELL-ADHESION; AUTISM; GENES; MICRODELETIONS; EPILEPSY; 1Q21.1; NLGN4 AB Neuroligin 1 (NLGN1) is one of five members of the neuroligin gene family and may represent a candidate gene for neurological disorders, as members of this family are involved in formation and remodeling of central nervous system synapses. NLGN1 is expressed predominantly in the central nervous system, where it dimerizes and then binds with beta-neurexin to form a functional synapse. Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities. Genomic microarray is recommended for the detection of chromosomal gains or losses in patients with intellectual disability and multiple congenital anomalies. Results of uncertain significance are not uncommon. Parental studies can provide additional information by demonstrating that the imbalance is either de novo or inherited, and therefore is more or less likely to be causative of the clinical phenotype. However, the possibility that even inherited deletions and duplicationsmayplay a role in the phenotype of the proband cannot be excluded as many copy number variants associated with neurodevelopmental conditions show incomplete penetrance and may be inherited from an unaffected parent. Here, we report on a patient with a 2.2Mbdeletion at 3q26.3-3q26.32-encompassing the terminal end of NLGN1 and the entire NAALADL2 genedetected by genomic microarray, and confirmed by FISH and real-time quantitative PCR. The same size deletion was subsequently found in her healthy, asymptomatic, adult mother. (C) 2011 Wiley Periodicals, Inc. C1 [Millson, Alison; Rowe, Leslie R.; Lyon, Elaine; South, Sarah T.] ARUP Labs, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT 84108 USA. [Willis, Mary J. H.] USN, Med Ctr, San Diego, CA 92152 USA. [South, Sarah T.] Univ Utah, Dept Pediat, Salt Lake City, UT USA. [Lyon, Elaine; South, Sarah T.] Univ Utah, Dept Pathol, Salt Lake City, UT USA. RP Millson, A (reprint author), ARUP Labs, ARUP Inst Clin & Expt Pathol, 500 Chipeta Way, Salt Lake City, UT 84108 USA. 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J. Med. Genet. A PD JAN PY 2012 VL 158A IS 1 BP 159 EP 165 DI 10.1002/ajmg.a.34349 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA 880CJ UT WOS:000299381800022 PM 22106001 ER PT J AU Rice, GM Raca, G Jakielski, KJ Laffin, JJ Iyama-Kurtycz, CM Hartley, SL Sprague, RE Heintzelman, AT Shriberg, LD AF Rice, Gregory M. Raca, Gordana Jakielski, Kathy J. Laffin, Jennifer J. Iyama-Kurtycz, Christina M. Hartley, Sigan L. Sprague, Rae E. Heintzelman, Anne T. Shriberg, Lawrence D. TI Phenotype of FOXP2 Haploinsufficiency in a Mother and Son SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE aCGH; apraxia of speech; autism; dyspraxia; speech sound disorder ID DEVELOPMENTAL LANGUAGE DISORDERS; CHILDHOOD-APRAXIA; SPEECH; TRANSLOCATION; DYSPRAXIA; IMPAIRMENT; DAUGHTER; DELETION; DEFICITS; ABSENCE AB Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech and language impairment. We report on clinical findings for two new individuals with a submicroscopic deletion of FOXP2: a boy with severe apraxia of speech and his currently moderately affected mother. A 1.57 Mb deletion on chromosome 7q31 was detected by array comparative genomic hybridization (aCGH). In addition to FOXP2, the patients' deletion involves two other genes, MDFIC and PPP1R3A, neither of which has been associated with speech or language disorders. Thus, findings for these two family members provide informative phenotypic information on FOXP2 haploinsufficiency. Evaluation by a clinical geneticist indicated no major congenital anomalies or dysmorphic features. Evaluations by a clinical psychologist and occupational therapist indicated cognitive-linguistic processing and sensorimotor control deficits, but did not support a diagnosis of autism spectrum disorder. Evaluation by clinical and research speech pathologists confirmed that both patients' speech deficits met contemporary criteria for apraxia of speech. Notably, the patients were not able to laugh, cough, or sneeze spontaneously, replicating findings reported for two other FOXP2 cases and a potential diagnostic sign of non-syndromic apraxia of speech. Speech severity findings for the boy were not consistent with the hypothesis that loss of maternal FOXP2 should be relatively benign. Better understanding of the behavioral phenotype of FOXP2 disruptions will aid identification of patients, toward an eventual understanding of the pathophysiology of syndromic and nonsyndromic apraxia of speech. (C) 2011 Wiley Periodicals, Inc. C1 [Rice, Gregory M.; Iyama-Kurtycz, Christina M.; Hartley, Sigan L.; Sprague, Rae E.; Heintzelman, Anne T.; Shriberg, Lawrence D.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA. [Rice, Gregory M.; Raca, Gordana; Laffin, Jennifer J.] Univ Wisconsin, Wisconsin State Lab Hyg, Madison, WI 53706 USA. [Jakielski, Kathy J.] Augustana Coll, Rock Isl, IL 61201 USA. RP Shriberg, LD (reprint author), Univ Wisconsin, Waisman Ctr, Room 439,1500 Highland Ave, Madison, WI 53705 USA. EM shriberg@waisman.wisc.edu FU National Institute on Deafness and Other Communication Disorders [DC000496]; National Institute of Child Health and Development [HD03352] FX This work was supported by a grant from the National Institute on Deafness and Other Communication Disorders (DC000496) to LawrenceD. Shriberg and a Core Grant from the National Institute of Child Health and Development (HD03352) to the Waisman Center. We thank the patients and their family and the following individuals for their contributions to this report: JonDouglas, Craig Jackson, Heather Karlsson, Lynn Levin, Heather Lohmeier, Jane McSweeny, Malgorzata Nowaczyk, Edythe Strand, and Christie Tilkens. 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H., 2004, CLIN EVALUATION LANG Woodcock R. W., 2001, WOODCOCKJOHNSON TEST Zeesman S, 2006, AM J MED GENET A, V140A, P509, DOI 10.1002/ajmg.a.31110 NR 45 TC 15 Z9 15 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1552-4825 J9 AM J MED GENET A JI Am. J. Med. Genet. A PD JAN PY 2012 VL 158A IS 1 BP 174 EP 181 DI 10.1002/ajmg.a.34354 PG 8 WC Genetics & Heredity SC Genetics & Heredity GA 880CJ UT WOS:000299381800024 PM 22106036 ER PT J AU Gillis, J Burashnikov, E Antzelevitch, C Blaser, S Gross, G Turner, L Babul-Hirji, R Chitayat, D AF Gillis, Jane Burashnikov, Elena Antzelevitch, Charles Blaser, Susan Gross, Gil Turner, Lesley Babul-Hirji, Riyana Chitayat, David TI Long QT, Syndactyly, Joint Contractures, Stroke and Novel CACNA1C Mutation: Expanding the Spectrum of Timothy Syndrome SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE arrhythmia; syndactyly; seizure; autosomal dominant; long QT; Timothy syndrome ID CALCIUM-CHANNEL; ARRHYTHMIA AB Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. Splawski et al. [2004] previously described two phenotypes associated with TS distinguished by two unique and different mutations within the CACNA1C gene. We report on a newborn who presented with prolonged QT interval and associated polymorphic ventricular tachycardia, dysmorphic facial features, syndactyly of the hands and feet, and joint contractures, suggestive of TS. He developed a stroke, subsequent intractable seizures, and was found to have cortical blindness and later profound developmental delay. Initial targeted mutation analysis did not identify either of the previously described TS associated mutations; however, full gene sequencing detected a novel CACNA1C gene mutation (p. Ala1473Gly). The clinical and genetic findings in our case expand both the clinical and molecular knowledge of TS. (C) 2011 Wiley Periodicals, Inc. C1 [Gillis, Jane] Dalhousie Univ, Maritime Med Genet Serv, IWK Hlth Ctr, Halifax, NS, Canada. [Burashnikov, Elena; Antzelevitch, Charles] Masonic Med Res Lab, Utica, NY USA. [Blaser, Susan] Univ Toronto, Hosp Sick Children, Div Neuroradiol, Toronto, ON M5G 1X8, Canada. [Gross, Gil] Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, Canada. [Turner, Lesley] Mem Univ Newfoundland, St John, NF, Canada. [Babul-Hirji, Riyana; Chitayat, David] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada. RP Chitayat, D (reprint author), Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Ontario Hydro Generat Bldg,700 Univ Ave,3rd Floor, Toronto, ON, Canada. EM dchitayat@mtsinai.on.ca FU NHLBI [HL47678]; New York State and Florida Grand Lodges of Free and Accepted Masons FX Grant sponsor: NHLBI (CA); Grant number: HL47678; Grant sponsor: New York State and Florida Grand Lodges of Free and Accepted Masons. 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A PD JAN PY 2012 VL 158A IS 1 BP 182 EP 187 DI 10.1002/ajmg.a.34355 PG 6 WC Genetics & Heredity SC Genetics & Heredity GA 880CJ UT WOS:000299381800025 PM 22106044 ER PT J AU Szatmari, P Liu, XQ Goldberg, J Zwaigenbaum, L Paterson, AD Woodbury-Smith, M Georgiades, S Duku, E Thompson, A AF Szatmari, Peter Liu, Xiao-Qing Goldberg, Jeremy Zwaigenbaum, Lonnie Paterson, Andrew D. Woodbury-Smith, Marc Georgiades, Stelios Duku, Eric Thompson, Ann TI Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS LA English DT Article DE autism spectrum disorder; repetitive behaviors; sex differences ID PERVASIVE DEVELOPMENTAL DISORDERS; SYSTEMIC-LUPUS-ERYTHEMATOSUS; GENOME-WIDE LINKAGE; SPECTRUM DISORDERS; INFANTILE-AUTISM; ASSOCIATION; GENDER; INTERESTS; REVEALS; 5P14.1 AB The implications of the well known sex differences in the prevalence of autism spectrum disorder (ASD) are not well understood. The aim of this paper was to investigate whether these differences might be associated with differences in genetic liability. Individuals with ASD (970 families, 2,028 individuals) were recruited as part of the Autism Genome Project (AGP). The families were differentiated into families containing a female (either femalefemale or malefemale) and those with only males. If the sex with the lower prevalence is associated with a greater genetic liability necessary to cross sex-specific thresholds, the males from female containing families should be more severely affected than males from male only families. Affected subjects from the different types of families with ASD were sampled and compared on the social reciprocity and repetitive behavior scores from the Autism Diagnostic Interview-Revised (ADI-R). In general, females had lower repetitive behavior scores than males. More importantly, males from female containing families had higher repetitive behavior scores than males from malemale families. No such differences were apparent on the social reciprocity scores. These results support the hypothesis of a multiple threshold model of genetic liability of ASD with females having a higher liability for affectation status, at least on the repetitive behavior dimension of the disorder. These data also support the dissociation of the different phenotypic dimensions of ASD in terms of its genetic architecture. The implications of these results for linkage and association studies are discussed. (C) 2011 Wiley Periodicals, Inc. C1 [Szatmari, Peter; Goldberg, Jeremy; Woodbury-Smith, Marc; Georgiades, Stelios; Duku, Eric; Thompson, Ann] McMaster Univ, Offord Ctr Child Studies, Dept Psychiat & Behav Neurosci, Hamilton, ON L8N 3Z5, Canada. [Liu, Xiao-Qing] Univ Manitoba, Dept Obstet Gynecol & Reprod Sci, Winnipeg, MB, Canada. [Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB, Canada. [Paterson, Andrew D.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada. [Paterson, Andrew D.] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada. RP Szatmari, P (reprint author), McMaster Univ, Offord Ctr Child Studies, Dept Psychiat & Behav Neurosci, Hamilton, ON L8N 3Z5, Canada. EM szatmar@mcmaster.ca FU Ontario Mental Health Foundation; Canadian Institutes of Health Research; Autism Speaks (USA); Genome Canada (Canada); Health Research Board (HRB; Ireland); Hilibrand Foundation (USA); Medical Research Council (MRC; UK) FX Grant sponsor: Ontario Mental Health Foundation; Grant sponsor: Canadian Institutes of Health Research.Support for the AGP when this work was carried out came from: Autism Speaks (USA); Genome Canada (Canada); Canadian Institutes of Health Research; the Health Research Board (HRB; Ireland); the Hilibrand Foundation (USA) and the Medical Research Council (MRC; UK). 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J. Med. Genet. B PD JAN PY 2012 VL 159B IS 1 BP 5 EP 12 DI 10.1002/ajmg.b.31238 PG 8 WC Genetics & Heredity; Psychiatry SC Genetics & Heredity; Psychiatry GA 868QC UT WOS:000298536800002 PM 22095612 ER PT J AU Chen, YZ Matsushita, M Girirajan, S Lisowski, M Sun, E Sul, Y Bernier, R Estes, A Dawson, G Minshew, N Shellenberg, GD Eichler, EE Rieder, MJ Nickerson, DA Tsuang, DW Tsuang, MT Wijsman, EM Raskind, WH Brkanac, Z AF Chen, Ying-Zhang Matsushita, Mark Girirajan, Santhosh Lisowski, Mark Sun, Elizabeth Sul, Youngmee Bernier, Raphael Estes, Annette Dawson, Geraldine Minshew, Nancy Shellenberg, Gerard D. Eichler, Evan E. Rieder, Mark J. Nickerson, Deborah A. Tsuang, Debby W. Tsuang, Ming T. Wijsman, Ellen M. Raskind, Wendy H. Brkanac, Zoran TI Evidence for involvement of GNB1L in autism SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS LA English DT Article DE 22q11; 2; translocation; neurodevelopmental disorders ID CARDIO-FACIAL SYNDROME; 22Q11.2 DELETION SYNDROME; COPY-NUMBER VARIATIONS; SPECTRUM DISORDERS; MENTAL-RETARDATION; MICRODUPLICATION 22Q11.2; GENOME-SCAN; SCHIZOPHRENIA; MUTATIONS; TBX1 AB Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q11.2 duplication (dup22q11.2) syndromes. The majority of del22q11.2 cases have facial and cardiac malformations, immunologic impairments, specific cognitive profile and increased risk for schizophrenia and autism spectrum disorders (ASDs). The phenotype of dup22q11.2 is frequently without physical features but includes the spectrum of neurocognitive abnormalities. Although there is substantial evidence that haploinsufficiency for TBX1 plays a role in the physical features of del22q11.2, it is not known which gene(s) in the critical 1.5 Mb region are responsible for the observed spectrum of behavioral phenotypes. We identified an individual with a balanced translocation 46,XY,t(1;22)(p36.1;q11.2) and a behavioral phenotype characterized by cognitive impairment, autism, and schizophrenia in the absence of congenital malformations. Using somatic cell hybrids and comparative genomic hybridization (CGH) we mapped the chromosome-22 breakpoint within intron 7 of the GNB1L gene. Copy number evaluations and direct DNA sequencing of GNB1L in 271 schizophrenia and 513 autism cases revealed dup22q11.2 in two families with autism and private GNB1L missense variants in conserved residues in three families (P=0.036). The identified missense variants affect residues in the WD40 repeat domains and are predicted to have deleterious effects on the protein. Prior studies provided evidence that GNB1L may have a role in schizophrenia. Our findings support involvement of GNB1L in ASDs as well. (C) 2011 Wiley Periodicals, Inc. C1 [Bernier, Raphael; Tsuang, Debby W.; Raskind, Wendy H.; Brkanac, Zoran] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Chen, Ying-Zhang; Matsushita, Mark; Lisowski, Mark; Sun, Elizabeth; Sul, Youngmee; Wijsman, Ellen M.; Raskind, Wendy H.] Univ Washington, Dept Med Med Genet, Seattle, WA 98195 USA. [Girirajan, Santhosh; Eichler, Evan E.; Rieder, Mark J.; Nickerson, Deborah A.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. [Estes, Annette] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98195 USA. [Dawson, Geraldine] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. [Minshew, Nancy] Univ Pittsburgh, Dept Psychiat & Neurol, Pittsburgh, PA USA. [Shellenberg, Gerard D.] Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA. [Eichler, Evan E.] Howard Hughes Med Inst, Seattle, WA USA. [Tsuang, Debby W.; Raskind, Wendy H.] VISN 20 Mental Illness Res Educ & Clin Ctr, Dept Vet Affairs, Seattle, WA USA. [Tsuang, Ming T.] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA. [Wijsman, Ellen M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. RP Brkanac, Z (reprint author), Univ Washington, Dept Psychiat & Behav Sci, BB1545,Box 356560, Seattle, WA 98195 USA. EM wendyrun@uw.edu; zbrkanac@uw.edu FU VISN-20 MIRECC VA Puget Sound Health Care System; National Alliance for Research on Schizophrenia and Affective Disorders(NARSAD); Department of Veterans Affairs [166]; National Institutes of Health [HD065285, HD035469, HG005608, NS069719, MH065558, HD055782, MH092367] FX The authors are grateful to the proband and his family for their participation in this study. The effort of COGS and VA CSP #166 investigators to ascertain and characterize the schizophrenia samples is much appreciated. Katy Ankenman, Jeffrey Biberston, Maika Malig, Catherine Morgan, Peggy Robertson, and John Wolff provided expert technical support. The authors also would like to thank and recognize the following ongoing studies that produced and provided exome variant calls for comparison: NHLBI Lung Cohort Sequencing Project (HL 1029230), NHLBI WHI Sequencing Project (HL 102924), and the Northwest Genomics Center (HL 102926). This work was supported by resources from the VISN-20 MIRECC VA Puget Sound Health Care System for D.W.T and W.H.R.; National Alliance for Research on Schizophrenia and Affective Disorders(NARSAD) to Z.B.; the Department of Veterans Affairs Cooperative Studies Program # 166 to M.T.T.; and the National Institutes of Health (HD065285 to E.E.E., HD035469 to N.M., HG005608 to D.A.N. and W.H.R., NS069719 to W.H.R., MH065558 to D.W.T., HD055782 to E.M.W. and MH092367 to Z.B.). E.E.E. is an investigator of the Howard Hughes Medical Institute. 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J. Med. Genet. B PD JAN PY 2012 VL 159B IS 1 BP 61 EP 71 DI 10.1002/ajmg.b.32002 PG 11 WC Genetics & Heredity; Psychiatry SC Genetics & Heredity; Psychiatry GA 868QC UT WOS:000298536800009 PM 22095694 ER PT J AU Nelson, AJ Premji, A Rai, N Hoque, T Tommerdahl, M Chen, R AF Nelson, Aimee J. Premji, Azra Rai, Navjot Hoque, Tasnuva Tommerdahl, Mark Chen, Robert TI Dopamine Alters Tactile Perception in Parkinson's Disease SO CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES LA English DT Article ID STIMULUS-DRIVEN SYNCHRONIZATION; TEMPORAL DISCRIMINATION; SPATIAL DISCRIMINATION; SENSORY PERCEPTION; INHIBITION; AUTISM; CORTEX; ABNORMALITIES; COACTIVATION; MODULATION AB Background: Abnormal somatosensory processing may contribute to motor impairments observed in Parkinson's disease (PD). Dopaminergic medications have been shown to alter somatosensory processing such that tactile perception is improved. In PD, it remains unclear whether the temporal sequencing of tactile stimuli is altered and if dopaminergic medications alter this perception. Methods: Somatosensory tactile perception was investigated using temporal order judgment in patients with Parkinson's disease on and off dopaminergic medications and in aged-matched healthy controls. Measures of temporal order judgment were acquired using computer controlled stimulation to digits 2 and 3 on the right hand and subjects were required to determine which stimuli occurred first. Two experimental tasks were compared, temporal order judgment without and with synchronization whereby digits 2 and 3 were vibrated synchronously in advance of the temporal order judgment sequence of stimuli. Results: Temporal order judgment in PD patients off and on medications were similar to controls. Temporal order judgment preceded by synchronous vibration impaired tactile acuity in controls and in PD off medications to similar degrees, but this perceptual impairment by synchronous vibration was not present in PD patients on medications. Conclusions: These findings suggest that dopamine in PD reduces cortico-cortical connectivity within SI and this leads to changes in tactile sensitivity. C1 [Nelson, Aimee J.; Premji, Azra; Rai, Navjot] Univ Waterloo, Dept Kinesiol, Waterloo, ON N2L 3G1, Canada. [Nelson, Aimee J.; Hoque, Tasnuva; Chen, Robert] Toronto Western Res Inst, Div Neurol, Toronto, ON, Canada. Toronto Western Res Inst, Krembil Neurosci Ctr, Toronto, ON, Canada. [Tommerdahl, Mark] Univ N Carolina, Chapel Hill, NC USA. RP Nelson, AJ (reprint author), Univ Waterloo, Dept Kinesiol, 200 Univ Ave W,BMH 1116, Waterloo, ON N2L 3G1, Canada. FU Natural Science and Engineering Research Council of Canada; Ontario Graduate Scholarship; Catherine Manson Chair in Movement Disorders FX Dr. Nelson is supported by the Natural Science and Engineering Research Council of Canada. N. Rai is supported by an Ontario Graduate Scholarship. Dr. Chen is supported by the Catherine Manson Chair in Movement Disorders. 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Eat. Disord. Rev. PD JAN PY 2012 VL 20 IS 1 BP 32 EP 38 DI 10.1002/erv.1095 PG 7 WC Psychology, Clinical SC Psychology GA 872EX UT WOS:000298792700021 PM 21308870 ER PT J AU Vardi, O Davidovitch, M Vinkler, C Michelson, M Lerman-Sagie, T Lev, D AF Vardi, Orna Davidovitch, Michael Vinkler, Chana Michelson, Marina Lerman-Sagie, Tally Lev, Dorit TI Autistic regression in a child with Silver-Russell Syndrome and maternal UPD 7 SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY LA English DT Article DE UPD 7; UPD; Chromosome 7; Silver-Russell syndrome; Autism ID UNIPARENTAL DISOMY; DUPLICATION; DYSPRAXIA; SPECTRUM; FOXP2 AB Silver-Russell syndrome (SRS) is a heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. In 5-10% of SRS patients, a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. We describe a 4.5-y old boy. Physical examination at the age of 4.5 y was remarkable for small stature, relatively big head, triangular face, broad forehead, pointed chin and clinodactyly. He had hypopigmented macules on his back with no evidence of asymmetry/hemihypertrophy. Clinical diagnosis of Silver-Russell syndrome was made. Maternal UPD of chromosome 7 was found, confirming the diagnosis. Along with the clinical findings that are described in this syndrome he had moderate developmental delay which is not commonly found in these patients and underwent an autistic regression around the age of 2 years. This association has only once been described before in this syndrome. A possible explanation is that the autism is not a part of SRS but is due to the UPD. Our case suggests an association of autistic regression with a locus on chromosome 7. (C) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. C1 [Vinkler, Chana; Michelson, Marina; Lev, Dorit] Wolfson Med Ctr, Inst Med Genet, IL-58100 Holon, Israel. [Vardi, Orna; Davidovitch, Michael; Vinkler, Chana; Michelson, Marina; Lerman-Sagie, Tally; Lev, Dorit] Wolfson Med Ctr, Metab Neurogenet Serv, IL-58100 Holon, Israel. [Vardi, Orna; Lerman-Sagie, Tally] Wolfson Med Ctr, Pediat Neurol Unit, IL-58100 Holon, Israel. [Vardi, Orna; Davidovitch, Michael] Wolfson Med Ctr, Child Dev Ctr, Rishon Lezion Maccabi Hlth Serv, IL-58100 Holon, Israel. [Lerman-Sagie, Tally; Lev, Dorit] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel. RP Lev, D (reprint author), Wolfson Med Ctr, Inst Med Genet, Halochamim St, IL-58100 Holon, Israel. 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J. Paediatr. Neurol. PD JAN PY 2012 VL 16 IS 1 BP 95 EP 98 DI 10.1016/j.ejpn.2011.05.009 PG 4 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 880ZT UT WOS:000299449800017 PM 21752678 ER PT J AU Cassidy, SB Schwartz, S Miller, JL Driscoll, DJ AF Cassidy, Suzanne B. Schwartz, Stuart Miller, Jennifer L. Driscoll, Daniel J. TI Prader-Willi syndrome SO GENETICS IN MEDICINE LA English DT Review DE hypotonia; imprinting; obesity; Prader-Willi syndrome; uniparental disomy ID GROWTH-HORMONE TREATMENT; MATERNAL UNIPARENTAL DISOMY; AUTISM SPECTRUM DISORDERS; IMPROVES BODY-COMPOSITION; NORMAL CORTISOL RESPONSE; ONSET MORBID-OBESITY; ANGELMAN-SYNDROME; GHRELIN LEVELS; SUDDEN-DEATH; GENETIC SUBTYPES AB Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attributes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation analysis will detect >99% of individuals. However, additional genetic studies are necessary to identify the molecular class. There are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader-Willi syndrome. However, absence of a small nucleolar organizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagnosis is available. C1 [Cassidy, Suzanne B.] Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94143 USA. [Schwartz, Stuart] Lab Corp Amer, Dept Cytogenet, Res Triangle Pk, NC USA. [Miller, Jennifer L.] Univ Florida, Dept Pediat, Div Endocrinol, Gainesville, FL USA. [Driscoll, Daniel J.] Univ Florida, Ctr Epigenet, Gainesville, FL USA. [Driscoll, Daniel J.] Univ Florida, Div Pediat Genet & Metab, Gainesville, FL USA. RP Cassidy, SB (reprint author), Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94143 USA. 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Med. PD JAN PY 2012 VL 14 IS 1 BP 10 EP 26 DI 10.1038/gim.0b013e31822bead0 PG 17 WC Genetics & Heredity SC Genetics & Heredity GA 873NI UT WOS:000298889600002 PM 22237428 ER PT J AU Peacock, G Amendah, D Ouyang, LJ Grosse, SD AF Peacock, Georgina Amendah, Djesika Ouyang, Lijing Grosse, Scott D. TI Autism Spectrum Disorders and Health Care Expenditures: The Effects of Co-Occurring Conditions SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE cost; health care use; expenditures; Medicaid; autism spectrum disorder; hyperkinetic syndrome; seizures; ID ID CHILDREN; COSTS AB Objective: Children with autism spectrum disorders (ASDs) often have co-occurring conditions, but little is known on the effect of those conditions on their medical care cost. Medical expenditures attributable to ASDs among Medicaid-enrolled children were calculated, and the effects of 3 commonly co-occurring conditions-intellectual disability (ID), attention deficit/hyperactivity disorder (ADHD), and epilepsy-on those expenditures were analyzed. Methods: Using MarketScan Medicaid Multi-State Databases (2003-2005) and the International Classification of Disease, Ninth Revision, children with ASD were identified. Children without ASD formed the comparison group. The 3 co-occurring conditions were identified among both the ASD and the comparison groups. Annual mean, median, and 95th percentile of total expenditures were calculated for children with ASD and the co-occurring conditions and compared with those of children without ASD. Multivariate analyses established the influence of each of those co-occurring conditions on the average expenditures for children with and without ASD. Results: In 2005, 47% of children with ASD had at least 1 selected co-occurring condition; attention deficit/hyperactivity disorder was the most common, at 30%. The mean medical expenditures for children with ASD were 6 times higher than those of the comparison group. Children with ASD and ID incurred expenditures 2.7 times higher than did children with ASD and no co-occurring condition. Conclusion: Medicaid-enrolled children with ASD incurred higher medical costs than did Medicaid-enrolled children without ASD. Among Medicaid-enrolled children with ASD, cost varied substantially based on the presence of another neurodevelopmental disorder. In particular, children with ID had much higher costs than did other children with ASD. C1 [Peacock, Georgina; Amendah, Djesika; Ouyang, Lijing; Grosse, Scott D.] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA. [Amendah, Djesika] African Populat & Hlth Res Ctr, Nairobi, Kenya. RP Peacock, G (reprint author), Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, 1600 Clifton Rd,MS E-86, Atlanta, GA 30333 USA. EM gpeacock@cdc.gov CR Amendah D., 2011, AUTISM SPECTRUM DISO, P1343 American Psychiatric Association, 2000, DIAGN STAT MAN MENT [Anonymous], 2009, MMWR SURVEILL SUMM, V58, P1 Croen LA, 2006, PEDIATRICS, V118, pE1203, DOI 10.1542/peds.2006-0127 Flanders SC, 2007, ADM POLICY MENT HLTH, V34, P213, DOI 10.1007/s10488-006-0098-3 Leslie DL, 2007, ARCH PEDIAT ADOL MED, V161, P350, DOI 10.1001/archpedi.161.4.350 Levy SE, 2010, J DEV BEHAV PEDIATR, V31, P267, DOI 10.1097/DBP.0b013e3181d5d03b Mandell DS, 2006, J AUTISM DEV DISORD, V36, P475, DOI 10.1007/s10803-006-0088-z Mvundura M, 2009, PEDIATR BLOOD CANCER, V53, P642, DOI 10.1002/pbc.22069 Shimabukuro TT, 2008, J AUTISM DEV DISORD, V38, P546, DOI 10.1007/s10803-007-0424-y NR 10 TC 23 Z9 23 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 JAN PY 2012 VL 33 IS 1 BP 2 EP 8 DI 10.1097/DBP.0b013e31823969de PG 7 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 880FY UT WOS:000299391700002 PM 22157409 ER PT J AU Bennett, AE AF Bennett, Amanda E. TI Activity Schedules for Children With Autism: Teaching Independent Behavior SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Book Review C1 [Bennett, Amanda E.] Childrens Hosp Philadelphia, Div Child Dev Rehabil & Metab Dis, Philadelphia, PA 19104 USA. RP Bennett, AE (reprint author), Childrens Hosp Philadelphia, Div Child Dev Rehabil & Metab Dis, Philadelphia, PA 19104 USA. CR MCCLANAHAN LE, 2010, ACTIVITY SCHEDULES C 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 JAN PY 2012 VL 33 IS 1 BP 8 EP 8 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 880FY UT WOS:000299391700003 ER PT J AU Bailey, DB Raspa, M Bishop, E Olmsted, M Mallya, UG Berry-Kravis, E AF Bailey, Donald B., Jr. Raspa, Melissa Bishop, Ellen Olmsted, Murrey Mallya, Usha G. Berry-Kravis, Elizabeth TI Medication Utilization for Targeted Symptoms in Children and Adults With Fragile X Syndrome: US Survey SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE Fragile X Syndrome; medication treatments; pill-swallowing ID PARENT SURVEY; AUTISTIC DISORDER; TREATMENT TRIAL; FUTURE; ADHD AB Objective: To identify the most common neurological and behavioral symptoms treated by medications in individuals with fragile X syndrome (FXS), factors associated with treatment variability, and difficulty in swallowing a pill. Method: A total of 1019 caregivers provided information about 1064 sons and 299 daughters with FXS in a US national survey. Caregivers reported (a) current use of medications for attention, anxiety, hyperactivity, mood swings, anger, depression, seizures, self-injury, or sleep; (b) perceived efficacy; and (c) difficulty in swallowing a pill. Results: Sixty-one percent of males and 38% of females were currently taking medication for at least 1 symptom. The most common symptoms were anxiety, attention, and hyperactivity. Treatments for attention and hyperactivity were common in childhood but declined substantially after the age of 18 years; anxiety treatment remained high in adults. Children perceived to be more impaired and children diagnosed or treated for autism were more likely to be taking medications. Caregivers considered most medications somewhat effective, but less than one-third rated current medication as "a lot" effective. Many children had difficulty swallowing a pill, but only 11% of adult males and 2% of adult females had a lot of difficulty. Conclusion: Symptom-based medication use is common in FXS, although response is incomplete and there is clearly an unmet need for medications with improved efficacy. The persistent use of medications to treat anxiety, mood, and behavior problems throughout adolescence and into the adult years suggests important outcomes when evaluating the efficacy of new medications. C1 [Bailey, Donald B., Jr.; Raspa, Melissa; Bishop, Ellen; Olmsted, Murrey] RTI Int, Res Triangle Pk, NC 27709 USA. [Mallya, Usha G.] Novartis Pharmaceut, Chicago, IL USA. [Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA. RP Bailey, DB (reprint author), RTI Int, 3040 Cornwallis Rd, Res Triangle Pk, NC 27709 USA. EM dbailey@rti.org FU Centers for Disease Control and Prevention (CDC); Association for Prevention Teaching and Research (APTR) [U50/CCU300860, TS-1380]; Novartis Pharmaceutical Corporation FX This study was supported in part by the Centers for Disease Control and Prevention (CDC) and the Association for Prevention Teaching and Research (APTR) Cooperative Agreement No. U50/CCU300860 (Project TS-1380) and in part by Novartis Pharmaceutical Corporation. CR AMAN MG, 1991, J AM ACAD CHILD PSY, V30, P246, DOI 10.1097/00004583-199103000-00013 Amaria R. N., 2001, MENT HLTH ASPECTS DE, V4, P143 Bailey DB, 2008, AM J MED GENET A, V146A, P2060, DOI 10.1002/ajmg.a.32439 Bailey DB, 2010, AJIDD-AM J INTELLECT, V115, P447, DOI [10.1352/1944-7558-115.6.447, 10.1352/194475581156447] Beck MH, 2005, CLIN PEDIATR, V44, P515, DOI 10.1177/000992280504400608 Berry-Kravis E, 2009, J MED GENET, V46, P266, DOI 10.1136/jmg.2008.063701 Berry-Kravis E, 2010, AJIDD-AM J INTELLECT, V115, P461, DOI [10.1352/1944-7558-115.6.461, 10.1352/194475581156461] Berry-Kravis E, 2008, J DEV BEHAV PEDIATR, V29, P293, DOI 10.1097/DBP.0b013e31817dc447 Berry-Kravis E, 2008, J AUTISM DEV DISORD, V38, P1751, DOI 10.1007/s10803-008-0564-8 Berry-Kravis E, 2004, MENT RETARD DEV D R, V10, P42, DOI 10.1002/mrdd.20007 Chang S, 2008, NAT CHEM BIOL, V4, P256, DOI 10.1038/nchembio.78 de Vrij FMS, 2008, NEUROBIOL DIS, V31, P127, DOI 10.1016/j.nbd.2008.04.002 Dolen G, 2010, PHARMACOL THERAPEUT, V127, P78, DOI 10.1016/j.pharmthera.2010.02.008 Erickson CA, 2011, BRAIN RES, V1380, P264, DOI 10.1016/j.brainres.2010.10.108 Ghuman JK, 2004, J CHILD ADOL PSYCHOP, V14, P601, DOI 10.1089/cap.2004.14.601 HAGERMAN RJ, 1994, DEV BRAIN DYSFUNCT, V7, P155 Hagerman RJ, 1995, DEV BRAIN DYSFUNCT, V8, P336 Hagerman RJ, 2009, PEDIATRICS, V123, P378, DOI 10.1542/peds.2008-0317 HAGERMAN RJ, 1988, AM J MED GENET, V30, P377, DOI 10.1002/ajmg.1320300138 Hall SS, 2009, DEV DISABIL RES REV, V15, P353, DOI 10.1002/ddrr.78 Hall SS, 2008, J ABNORM CHILD PSYCH, V36, P927, DOI 10.1007/s10802-008-9223-y Handen BL, 1997, J ABNORM CHILD PSYCH, V25, P287, DOI 10.1023/A:1025760302598 Jacquemont S, 2011, SCI TRANSL MED, V3, DOI 10.1126/scitranslmed.3001708 Kaplan Bonnie J, 2010, Paediatr Child Health, V15, pe1 Kronk R, 2010, SLEEP, V33, P679 Loesch DZ, 2004, MENT RETARD DEV D R, V10, P31, DOI 10.1002/mrdd.20006 Meltzer EO, 2006, CLIN PEDIATR, V45, P725, DOI 10.1177/0009922806292786 Paribello C, 2010, BMC NEUROL, V10, DOI 10.1186/1471-2377-10-91 Polaha J, 2008, SOUTH MED J, V101, P1106, DOI 10.1097/SMJ.0b013e318180645d Symons FJ, 2010, AJIDD-AM J INTELLECT, V115, P473, DOI [10.1352/1944-7558-115.6.473, 10.1352/194475581156473] Valdovinos MG, 2009, J DEV PHYS DISABIL, V21, P223 Wetmore DZ, 2010, J DEV BEHAV PEDIATR, V31, P564, DOI 10.1097/DBP.0b013e3181ee3833 NR 32 TC 11 Z9 11 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 JAN PY 2012 VL 33 IS 1 BP 62 EP 69 DI 10.1097/DBP.0b013e318236c0e1 PG 8 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 880FY UT WOS:000299391700014 PM 22064563 ER PT J AU Huang, P Kao, T Curry, AE Durbin, DR AF Huang, Patty Kao, Trudy Curry, Allison E. Durbin, Dennis R. TI Factors Associated With Driving in Teens With Autism Spectrum Disorders SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE motor vehicle accident; accident prevention; injury prevention and control; teen drivers; autism ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; YOUNG-PEOPLE; CHILDREN; SAFETY; WEB AB Objective: To compare the characteristics of driving and nondriving teens and explore the driving outcomes for teens with higher functioning autism spectrum disorders. Methods: Parents of teens aged 15 to 18 years with a parent-reported diagnosis of an autism spectrum disorder enrolled in Interactive Autism Network, an online research registry, were eligible for this cross-sectional study. An online survey was used for data collection. Results: A total of 297 parents completed the survey. Sixty-three percent of teens currently drive or plan to drive. Twenty-nine percent of the teens who are age-eligible to drive currently drive. Compared with age-eligible but nondriving teens, a greater proportion of driving teens were in full-time regular education (p < .005), planned to attend college (p < .001), and held a paid job (p = .008). A greater proportion of parents of driving teens had taught >= 1 teen to drive previously (p <. 001). There were no differences in gender, autism subtype, attention deficit/hyperactivity disorder diagnosis, parental age or education, or access to public transportation. Driving predictors included individualized education plans with driving goals, indicators of functional status (classroom placement, college aspiration, and job experience), and parent experience with teaching teens to drive. Twelve percent of teens received driving citations, and 12% of teens had been involved in a motor vehicle crash. Conclusions: Although a significant proportion of teens with higher functioning autism spectrum disorders were driving or learning to drive, the fact that most driving teens' individualized education plans did not include driving goals suggests an area of opportunity for improvement in transition planning. Driving teens were more frequently in regular education settings with college aspirations, which could help schools identify potential drivers. C1 [Huang, Patty; Curry, Allison E.; Durbin, Dennis R.] Childrens Hosp Philadelphia, Ctr Injury Res & Prevent, Div Child Dev & Metab, Philadelphia, PA 19104 USA. [Kao, Trudy] Univ Penn, Sch Nursing, Philadelphia, PA 19104 USA. [Durbin, Dennis R.] Univ Penn, Sch Med, Ctr Clin Epidemiol & Biostat, Philadelphia, PA 19104 USA. [Durbin, Dennis R.] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA. RP Huang, P (reprint author), Childrens Hosp Philadelphia, Ctr Injury Res & Prevent, Div Child Dev & Metab, 3550 Market St,3rd Floor, Philadelphia, PA 19104 USA. EM huangp@email.chop.edu FU National Science Foundation Center for Child Injury Prevention Studies at The Children's Hospital of Philadelphia; National Science Foundation Center for Child Injury Prevention Studies at Industrial Advisory Board FX This study was supported by the National Science Foundation Center for Child Injury Prevention Studies at The Children's Hospital of Philadelphia and its Industrial Advisory Board. 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Dev. Behav. Pediatr. PD JAN PY 2012 VL 33 IS 1 BP 70 EP 74 DI 10.1097/DBP.0b013e31823a43b7 PG 5 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 880FY UT WOS:000299391700015 PM 22157351 ER PT J AU Blum, NJ AF Blum, Nathan J. CA DBPNet Steering Comm TI The Developmental-Behavioral Pediatrics Research Network: Another Step in the Development of the Field SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE clinical research; research networks; developmental disabilities; behavioral pediatrics ID AUTISM SPECTRUM DISORDERS; CLINICAL-RESEARCH; CHILDREN; ADHD; INTERVENTION; CHALLENGES; PATTERNS; HISTORY; FUTURE; MTA AB Developmental-behavioral pediatrics was formally recognized as a subspecialty of pediatrics in 1999 with one of the goals being to promote research in the field. However, research has generally been a small component of most developmental-behavioral pediatricians' activities. In an effort to expand research in the field, the Developmental-Behavioral Pediatrics Research Network (DBPNet) was funded through a cooperative agreement with the Health Resources and Services Administration, Maternal Child Health Bureau. This funding supports the development of an infrastructure to support multisite research that aims to optimize the health and functional status of children with developmental and behavioral concerns and disorders. This article describes the need for a developmental-behavioral pediatrics research network, the development of the infrastructure for DBPNet, and the mechanisms for investigators to collaborate with the Network. C1 [Blum, Nathan J.; DBPNet Steering Comm] Childrens Hosp Philadelphia, Dept Pediat, Div Child Dev & Metab Dis, Philadelphia, PA 19104 USA. RP Blum, NJ (reprint author), Childrens Hosp Philadelphia, Dept Pediat, Div Child Dev & Metab Dis, 3550 Market St, Philadelphia, PA 19104 USA. EM blum@email.chop.edu FU Maternal Child Health Bureau, Health Resources and Services Administration, Department of Health and Human Service [UA3MC20218] FX This study was supported by cooperative agreement UA3MC20218 from the Maternal Child Health Bureau (Combating Autism Act of 2006), Health Resources and Services Administration, Department of Health and Human Services (to The Children's Hospital of Philadelphia). 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Dev. Behav. Pediatr. PD JAN PY 2012 VL 33 IS 1 BP 78 EP 83 DI 10.1097/DBP.0b013e31823e05bb PG 6 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 880FY UT WOS:000299391700019 PM 22218018 ER PT J AU Phelps, R Eisert, D Schulz, S Augustyn, M AF Phelps, Randall Eisert, Debra Schulz, Susan Augustyn, Marilyn TI Attached to a Diagnosis: The Quandary of Social Deficits and Reactive Attachment Disorder SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Editorial Material AB CASE: Alex is a 9-year-old boy brought to you, his primary care provider, for a "fifth opinion." You have cared for Alex since he was adopted from a Romanian orphanage at 3 years of age. He has been physically healthy with normal growth parameters and no evidence of fetal alcohol syndrome. Alex has long-standing history of social difficulties, impulsivity, lying, controlling, manipulative behaviors, violent outbursts at home with subsequent lack of remorse, and excessive chatter. You referred Alex to an interdisciplinary child development clinic 2 years ago, where he was diagnosed with reactive attachment disorder (RAD) and attention deficit hyperactivity disorder (ADHD). He was noted to have normal cognitive and language skills. Attachment therapy, stimulant therapy, and school accommodations for ADHD were recommended. Alex received some individual counseling with the school psychologist for a year after the first evaluation, with little improvement in core behaviors. The following year, Alex established care with a psychiatrist and a private counselor. The psychiatrist prescribed a succession of stimulants, each of which worked for only a short time and then had waning effect. The counselor worked with Alex and his parents on managing Alex's behavior, which the family reports has been somewhat helpful. Alex's parents express great frustration and sadness that parenting Alex has been such an ongoing struggle since he was adopted. They note that Alex is superficially friendly, chatty, and charming, with everyone he encounters, including strangers, but he never progresses past such superficial interaction, even with his adoptive parents. The parents express that they are deeply wounded that Alex is not more loving and is not more appreciative of the fact that they rescued him from the orphanage. His parents asked his pediatric clinician about Autism as they observe Alex's lack of real affection and social connection with parents or peers. They also note that Alex has difficulty verbalizing his feelings and that he lies frequently, chatters tangentially, and he can watch the Discovery channel for hours. A neurologist, to whom Alex was referred to evaluate staring spells, reassured the family that the spells did not seem to be epilepsy and also diagnosed Alex with "Asperger's syndrome." The school psychologist, after 2 years of equivocation, recently made Alex eligible for autism spectrum services. During the interview and examination, Alex is funny, friendly, and a bit silly. He uses normal eye contact, seems to enjoy the neuromotor examination, and is eager to show you his cool, new handshake. He engages in easy banter, using normal vernacular and prosody. After the visit, you call the therapist to express your opinion that the RAD diagnosis is valid after all and to ask whether the family is engaged in attachment therapy. The therapist refutes the RAD diagnosis, endorsing Asperger's syndrome (AS) instead and notes that Alex is making good progress in school and in therapy, where he is learning pragmatic skills and basic social skills with the use of social stories. Where do you head next? C1 [Phelps, Randall; Eisert, Debra; Schulz, Susan] Oregon Hlth & Sci Univ, Child Dev & Rehabil Ctr, Portland, OR 97201 USA. [Augustyn, Marilyn] Boston Univ, Sch Med, Boston Med Ctr, Boston, MA 02118 USA. RP Phelps, R (reprint author), Oregon Hlth & Sci Univ, Child Dev & Rehabil Ctr, Portland, OR 97201 USA. RI Bowyer, Jade/H-1930-2012 CR Gray DeborahD, 2002, ATTACHING ADOPTION P Levy T, 1998, ATTACHMENT TRAUMA HE NR 2 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 0196-206X EI 1536-7312 J9 J DEV BEHAV PEDIATR JI J. Dev. Behav. Pediatr. PD JAN PY 2012 VL 33 IS 1 BP 84 EP 86 DI 10.1097/DBP.0b013e31823ff33e PG 3 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA 880FY UT WOS:000299391700020 PM 22218019 ER PT J AU Wei, X Yu, JW AF Wei, Xin Yu, Jennifer W. TI The Concurrent and Longitudinal Effects of Child Disability Types and Health on Family Experiences SO MATERNAL AND CHILD HEALTH JOURNAL LA English DT Article DE Children with disabilities; Child health; Divorce; Employment; Social welfare ID CARE NEEDS; DISABLED-CHILDREN; MENTAL-RETARDATION; DOWN-SYNDROME; PARENTS; MOTHERS; EMPLOYMENT; AUTISM; STRESS; WORK AB This study examines the concurrent and longitudinal effects of children's disability types and health on family experiences, namely, parent divorce, mother's unemployment, and receipt of social welfare. The parent and school staff survey data for 1999 and 2004 from the Special Education Elementary Longitudinal Study were analyzed, when the ages of children with disabilities ranged from 6 to 17. Weighted logistic regressions using Taylor Series Linearization were used to model the concurrent associations and longitudinal association between children's disability types and health and family experiences. Models were adjusted to account for other children in the family with disabilities, sociodemographic characteristics, and other family experiences variables. Family experiences varied significantly by disability type in 1999. Compared with families of children with learning disabilities, parents of children with emotional disturbances were 81% more likely to get divorced, and 2.5 times more likely to receive welfare from 1999 to 2004. Mothers of children with a secondary disability were 81% more likely to be unemployed than those of children without a secondary disability. These findings indicate that specific disability types in children have an influence on family experience, and that some of those influences may persist over time. Families of children with emotional disturbances appear to be particularly at risk for negative family experiences. Clinicians, educators, and policymakers should be aware of the complex needs of families of children with disabilities when considering the types of services and supports provided to both children with disabilities and their families. C1 [Wei, Xin; Yu, Jennifer W.] SRI Int, Menlo Pk, CA 94025 USA. RP Wei, X (reprint author), SRI Int, 333 Ravenswood Ave,BS 169, Menlo Pk, CA 94025 USA. 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PD JAN PY 2012 VL 16 IS 1 BP 100 EP 108 DI 10.1007/s10995-010-0711-7 PG 9 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 875AL UT WOS:000299001100011 PM 21080046 ER PT J AU Mercimek-Mahmutoglu, S Dunbar, M Friesen, A Garret, S Hartnett, C Huh, L Sinclair, G Stockler, S Wellington, S Pouwels, PJW Salomons, GS Jakobs, C AF Mercimek-Mahmutoglu, Saadet Dunbar, Mary Friesen, Andrea Garret, Susan Hartnett, Carol Huh, Linda Sinclair, Graham Stockler, Sylvia Wellington, Stephen Pouwels, Petra J. W. Salomons, Gajja S. Jakobs, Cornelis TI Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency SO MOLECULAR GENETICS AND METABOLISM LA English DT Article DE GAMT deficiency; Autism; Creatine therapy; Global developmental delay; Arginine restricted diet ID GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; AUTISM SPECTRUM DISORDER; INBORN ERROR; MENTAL-RETARDATION; CREATINE SYNTHESIS; METABOLISM; BRAIN; DIAGNOSIS; MUSCLE AB A 4-year-old female with history of developmental regression and autistic features was diagnosed with guanidinoacetate methyltransferase deficiency at age 21 months. Upon treatment, she showed improvements in her developmental milestones, sensorial-neural hearing loss and brain atrophy on cranial-MRI. The creatine/choline ratio increased 82% in basal ganglia and 88% in white matter on cranial MR-spectroscopy. The CSF guanidinoacetate decreased 80% after six months of ornithine and creatine supplementation and an additional 8% after 18 months of additional arginine restricted diet. We report the most favorable clinical and biochemical outcome on treatment in our patient. (C) 2011 Elsevier Inc. All rights reserved. C1 [Mercimek-Mahmutoglu, Saadet; Hartnett, Carol; Stockler, Sylvia] Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada. [Mercimek-Mahmutoglu, Saadet; Salomons, Gajja S.; Jakobs, Cornelis] Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Lab, Amsterdam, Netherlands. [Dunbar, Mary] Univ Calgary, Fac Med, Calgary, AB, Canada. [Friesen, Andrea; Garret, Susan] Univ British Columbia, Dept Physiotherapy & Occupat Therapy, Vancouver, BC V6H 3V4, Canada. [Huh, Linda] Univ British Columbia, Dept Pediat, Div Neurol, Vancouver, BC V6H 3V4, Canada. [Sinclair, Graham] Univ British Columbia, Dept Pathol, Biochem Genet Lab, Vancouver, BC V6H 3V4, Canada. [Wellington, Stephen] Univ British Columbia, Dept Pediat, Div Dev Pediat, Vancouver, BC V6H 3V4, Canada. [Pouwels, Petra J. W.] Vrije Univ Amsterdam Med Ctr, Dept Phys & Med Technol, Amsterdam, Netherlands. RP Mercimek-Mahmutoglu, S (reprint author), Univ British Columbia, Dept Pediat, Div Biochem Dis, Rm K3-208,ACB,4480 Oak St, Vancouver, BC V6H 3V4, Canada. 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Genet. Metab. PD JAN PY 2012 VL 105 IS 1 BP 155 EP 158 DI 10.1016/j.ymgme.2011.09.037 PG 4 WC Biochemistry & Molecular Biology; Genetics & Heredity; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Genetics & Heredity; Research & Experimental Medicine GA 879WO UT WOS:000299363800022 PM 22019491 ER PT J AU Collier-Meek, MA Fallon, LM Johnson, AH Sanetti, LMH Delcampo, MA AF Collier-Meek, Melissa A. Fallon, Lindsay M. Johnson, Austin H. Sanetti, Lisa M. H. Delcampo, Marisa A. TI Constructing self-modeling videos: Procedures and technology SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID EVIDENCE-BASED INTERVENTIONS; AUTISM SPECTRUM DISORDERS; SCHOOL-PSYCHOLOGY; CHILDREN; ADOLESCENTS; STUDENTS AB Although widely recommended, evidence-based interventions are not regularly utilized by school practitioners. Video self-modeling is an effective and efficient evidence-based intervention for a variety of student problem behaviors. However, like many other evidence-based interventions, it is not frequently used in schools. As video creation technology becomes increasingly accessible, school psychologists are better able to incorporate video self-modeling into their practice. Built on a comprehensive review, this article describes the procedures for implementing a video self-modeling intervention in educational settings. Video self-modeling procedures described herein include (a) deciding whether video self-modeling is an appropriate intervention for a situation, (b) planning for and preparing video self-modeling procedures, (c) videotaping, (d) editing the video, (e) presenting the video, and (f) using video self-modeling with other behavioral techniques. Additionally, further resources are offered. (C) 2011 Wiley Periodicals, Inc. C1 [Collier-Meek, Melissa A.] Univ Connecticut, Dept Educ Psychol, Sch Psychol Program, Storrs, CT 06269 USA. RP Collier-Meek, MA (reprint author), Univ Connecticut, Dept Educ Psychol, Sch Psychol Program, 249 Glenbrook Rd,U-2064 Storrs, Storrs, CT 06269 USA. EM melissa.collier@uconn.edu CR Alberto PA, 2009, APPL BEHAV ANAL TEAC Bellini S, 2007, SCHOOL PSYCHOL REV, V36, P80 Bellini S, 2007, EXCEPT CHILDREN, V73, P264 Bellini S., 2010, PREVENTING SCH FAILU, V54, P220, DOI DOI 10.1080/10459881003742275 Bray M. A., 1998, SPECIAL SERVICES SCH, V14, P105, DOI 10.1300/J008v14n01_07 Bray MA, 1996, SCHOOL PSYCHOL REV, V25, P358 Bray MA, 1998, SCHOOL PSYCHOL REV, V27, P587 Bray MA, 2001, SCHOOL PSYCHOL REV, V30, P135 Buggey T, 2007, J POSIT BEHAV INTERV, V9, P151, DOI 10.1177/10983007070090030301 Buggey T., 2005, FOCUS AUTISM OTHER D, V20, P52, DOI DOI 10.1177/10883576050200010501 Chafouleas S. 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M., 2010, PRACTICAL HDB SCH PS, P531 Shernoff ES, 2003, J SCHOOL PSYCHOL, V41, P467, DOI 10.1016/j.jsp.2003.07.002 NR 33 TC 3 Z9 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0033-3085 J9 PSYCHOL SCHOOLS JI Psychol. Schools PD JAN PY 2012 VL 49 IS 1 SI SI BP 3 EP 14 DI 10.1002/pits.20614 PG 12 WC Psychology, Educational SC Psychology GA 869ER UT WOS:000298579600002 ER PT J AU Gelbar, NW Anderson, C McCarthy, S Buggey, T AF Gelbar, Nicholas W. Anderson, Candace McCarthy, Scott Buggey, Tom TI Video self-modeling as an intervention strategy for individuals with autism spectrum disorders SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID GENERAL-EDUCATION CLASSROOM; CHILDREN; METAANALYSIS; STUDENTS; PROMPTS; SKILLS AB Video self-modeling demonstrates promise as an intervention strategy to improve outcomes in individuals with autism spectrum disorders. This article summarizes the empirical evidence supporting the use of video self-modeling with individuals with autism spectrum disorders to increase language and communication, increase social skills, modify behavior, and teach functional skills. A comparison of the empirical evidence supporting the use of video self-modeling with other video modeling interventions is also provided. The use of video self-modeling as part of a continuum of strategies for this population is supported by the current research base. (C) 2011 Wiley Periodicals, Inc. C1 [Gelbar, Nicholas W.; Anderson, Candace; McCarthy, Scott] Univ Connecticut, Mansfield, CT 06250 USA. [Buggey, Tom] Univ Tennessee, Chattanooga, TN USA. RP Gelbar, NW (reprint author), Univ Connecticut, 222Warrenville Rd, Mansfield, CT 06250 USA. 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Schools PD JAN PY 2012 VL 49 IS 1 SI SI BP 15 EP 22 DI 10.1002/pits.20628 PG 8 WC Psychology, Educational SC Psychology GA 869ER UT WOS:000298579600003 ER PT J AU Dowrick, PW AF Dowrick, Peter W. TI Self modeling: Expanding the theories of learning SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID AUTISM SPECTRUM DISORDERS; SELECTIVE MUTISM; CHILDREN; STUDENTS AB Self modeling (SM) offers a unique expansion of learning theory. For several decades, a steady trickle of empirical studies has reported consistent evidence for the efficacy of SM as a procedure for positive behavior change across physical, social, educational, and diagnostic variations. SM became accepted as an extreme case of model similarity; improved self-efficacy became a frequent explanation of how it worked. Recently, however, the mounting evidence for ultra-rapid behavior change (particularly in feedforward versions of video SM) and incomplete satisfaction with explanatory models of observational learning in general suggested a rethinking of underlying theory. The most rapid learning by humans can be achieved by mental simulations of future events, based on reconfigured preexisting component skills. These reconsiderations of learning from the future, emphasizing learning from oneself, have coincided with developments in neurocognitive theories of mirror neurons and mental time travel. A reexamination of principles not tied to any medium show SM not to be a special case but to be the most fundamental form of observational learning. In the meantime, commercial technology has advanced in ways that are putting more of this self-determining behavior change into younger and younger hands and minds. (C) 2011 Wiley Periodicals, Inc. C1 [Dowrick, Peter W.] Univ Auckland, Auckland 1, New Zealand. 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Schools PD JAN PY 2012 VL 49 IS 1 SI SI BP 30 EP 41 DI 10.1002/pits.20613 PG 12 WC Psychology, Educational SC Psychology GA 869ER UT WOS:000298579600005 ER PT J AU Madaus, MR Ruberto, LM AF Madaus, Melissa Root Ruberto, Laura M. TI Application of self-modeling to externalizing and internalizing disorders SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID CLASSROOM-BEHAVIOR; CHILDREN; INTERVENTION; PERFORMANCE AB The self-modeling intervention has been studied for more than 40 years, most often through single-subject research design. This article evaluates the use of the intervention with behaviors associated with both externalizing and internalizing disorders. It compares and summarizes the use of the self-modeling intervention with behaviors such as: disruptive classroom and social-setting behaviors. Attention-Deficit/Hyperactivity Disorder-associated behaviors, anxiety, depression, fear, and self-efficacy. Behaviors associated with disorders such as stuttering, selective mutism, and autism are not included in this review as they are covered more in-depth in other articles contained within this special issue. In general, the self-modeling intervention is supported for use in a variety of behaviors associated with both internalizing and externalizing disorders. Practitioners are advised to use the methods outlined in this article as support for incorporating the self-modeling intervention for school-aged children with both internalizing and externalizing disorders. (C) 2011 Wiley Periodicals, Inc. C1 [Madaus, Melissa Root] Univ Connecticut, Dept Educ Psychol, Sch Psychol Program, Storrs, CT 06269 USA. RP Madaus, MR (reprint author), Univ Connecticut, Dept Educ Psychol, Sch Psychol Program, 249 Glenbrook Rd,U-2064 Storrs, Storrs, CT 06269 USA. EM melissa.madaus@uconn.edu CR Bond C. L., 2002, VIDEO SELF MODELING Bray MA, 1998, SCHOOL PSYCHOL REV, V27, P587 Buggey T, 2011, FOCUS AUTISM DEV DIS, V26, P25, DOI 10.1177/1088357609344430 Buggey T., 1999, J POSIT BEHAV INTERV, V1, P205, DOI 10.1177/109830079900100403 Clarke E., 1993, SCHOOL PSYCHOL INT, V14, P83, DOI DOI 10.1177/0143034393141006 CREER TL, 1970, THERAPY, V8, P91, DOI DOI 10.1016/0005-7967(70)90040-9 Davis R. A., 1979, SCH PSYCHOL REV, V8, P128 FOUTS GT, 1974, EFFECT SELF MODELING Johnson M.E., 1989, CLIN SUPERV, V7, P59, DOI 10.1300/J001v07n02_05 KAHN JS, 1990, SCHOOL PSYCHOL REV, V19, P196 KEHLE TJ, 1990, SCHOOL PSYCHOL REV, V19, P115 KEHLE TJ, 1986, SCHOOL PSYCHOL REV, V15, P289 Kehle TJ, 1998, J SCHOOL PSYCHOL, V36, P247, DOI 10.1016/S0022-4405(98)00013-2 MCCURDY BL, 1988, J SCHOOL PSYCHOL, V26, P371, DOI 10.1016/0022-4405(88)90044-1 Possell LE, 1999, COGN BEHAV PRACT, V6, P99, DOI 10.1016/S1077-7229(99)80017-0 Rickards-Schlichting K.. A., 2004, J APPL SCH PSYCHOL, V20, P47, DOI DOI 10.1300/J370V20N02_04 Schwartz C, 1997, CHILD FAM BEHAV THER, V19, P37, DOI 10.1300/J019v19n01_03 SHEAR SM, 1993, J SCHOOL PSYCHOL, V31, P519, DOI 10.1016/0022-4405(93)90035-H Starek J, 1999, SPORT PSYCHOL, V13, P269 WALKER CJ, 1992, CHILD FAM BEHAV THER, V14, P75, DOI 10.1300/J019v14n02_05 WINFREY ML, 1993, PERCEPT MOTOR SKILL, V77, P907 WOLTERSDORF MA, 1992, CHILD FAM BEHAV THER, V14, P53, DOI 10.1300/J019v14n02_04 NR 22 TC 0 Z9 0 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0033-3085 J9 PSYCHOL SCHOOLS JI Psychol. Schools PD JAN PY 2012 VL 49 IS 1 SI SI BP 42 EP 51 DI 10.1002/pits.20619 PG 10 WC Psychology, Educational SC Psychology GA 869ER UT WOS:000298579600006 ER PT J AU Buggey, T Ogle, L AF Buggey, Tom Ogle, Lindsey TI Video self-modeling SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID CLASSROOM-BEHAVIOR; INTERVENTION; CHILDREN; AUTISM; PRESCHOOLERS; INDIVIDUALS; PERFORMANCE; EFFICACY; STUDENTS; SKILLS AB Video self-modeling (VSM) first appeared on the psychology and education stage in the early 1970s. The practical applications of VSM were limited by lack of access to tools for editing video, which is necessary for almost all self-modeling videos. Thus, VSM remained in the research domain until the advent of camcorders and VCR/DVD players and, more recently, video-editing software. In this article, the authors trace the history and development of VSM, summarize the research, and provide suggestions for future directions. (C) 2011 Wiley Periodicals, Inc. C1 [Buggey, Tom; Ogle, Lindsey] Univ Tennessee, Chattanooga, TN 37403 USA. [Buggey, Tom] Siskin Childrens Inst, Chattanooga, TN USA. RP Buggey, T (reprint author), Univ Tennessee, 210 Pfeiffer Hall,615 Mcallie Ave, Chattanooga, TN 37403 USA. EM tom-buggey@utc.edu CR Akullian J., 2007, EXCEPT CHILDREN, V73, P261 Bandura A., 1986, SOCIAL FDN THOUGHT A Bellini S, 2007, SCHOOL PSYCHOL REV, V36, P80 Brady M. P., 1995, ED TREATMENT CHILDRE, V18, P389 Bray MA, 1996, SCHOOL PSYCHOL REV, V25, P358 Bray MA, 1998, SCHOOL PSYCHOL REV, V27, P587 Buggey T., 1995, EARLY EDUC DEV, V6, P39, DOI 10.1207/s15566935eed0601_3 Buggey T., 2005, FOCUS AUTISM OTHER D, V20, P52, DOI DOI 10.1177/10883576050200010501 Buggey T, 2011, FOCUS AUTISM DEV DIS, V26, P25, DOI 10.1177/1088357609344430 BUGGEY T, 2011, FOCUS AUTISM OTHER D, V9, P151 Buggey T., 1999, J POSIT BEHAV INTERV, V1, P205, DOI 10.1177/109830079900100403 Cihak D. F., 2009, J SPECIAL ED TECHNOL, V23, P9 Cihak DF, 2010, EDUC TRAIN AUTISM DE, V45, P136 Clare SK, 2000, PSYCHOL SCHOOLS, V37, P517, DOI 10.1002/1520-6807(200011)37:6<517::AID-PITS4>3.0.CO;2-Y Clarke E., 1993, SCHOOL PSYCHOL INT, V14, P83, DOI DOI 10.1177/0143034393141006 Cream A, 2010, J SPEECH LANG HEAR R, V53, P887, DOI 10.1044/1092-4388(2009/09-0080) CREER TL, 1970, BEHAV RES THER, V8, P91, DOI 10.1016/0005-7967(70)90040-9 Davis R. A., 1979, SCH PSYCHOL REV, V8, P128 Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401 DeWees K., 2009, CANADIAN J SCH PSYCH, V24, P203, DOI DOI 10.1177/0829573509343096 Dowrick P. W., 1983, USING VIDEO PSYCHOL, P105 Dowrick PW, 1997, J INTELLECT DEV DIS, V22, P147, DOI 10.1080/13668259700033371 DOWRICK PW, 1980, J APPL BEHAV ANAL, V13, P51, DOI 10.1901/jaba.1980.13-51 DOWRICK PW, 1981, J APPL PSYCHOL, V66, P394, DOI 10.1037/0021-9010.66.3.394 HAARMAN BS, 1982, J SPECIAL ED TECHNOL, V5, P52 Hartley E. T., 2002, J APPL SCH PSYCHOL, V19, P51, DOI 10.1300/J008v19n01_04 Hartley ET, 1998, PSYCHOL SCHOOLS, V35, P363, DOI 10.1002/(SICI)1520-6807(199810)35:4<363::AID-PITS7>3.0.CO;2-1 Hepting NH, 1996, TOP EARLY CHILD SPEC, V16, P407 Hermansen E, 2007, ED TREATMENT CHILDRE, V30, P183, DOI DOI 10.1353/ETC.2007.0029 Hitchcock CH, 2003, REM SPEC EDUC, V24, P36, DOI 10.1177/074193250302400104 Hoomes G., 2011, YOUNG EXCEPTIONAL CH, V14, P2 Johnson C., 2009, TEACHING EXCEPTIONAL, V5, P1 KAHN JS, 1990, SCHOOL PSYCHOL REV, V19, P196 KEHLE TJ, 1990, SCHOOL PSYCHOL REV, V19, P115 Kehle TJ, 1998, J SCHOOL PSYCHOL, V36, P247, DOI 10.1016/S0022-4405(98)00013-2 Kehle TJ, 2002, PSYCHOL SCHOOLS, V39, P203, DOI 10.1002/pits.10031 Litras S, 2010, AUTISM RES TREATMENT, DOI 10.1155/2010/834979 Magill-Evans J., 2007, FATHERING, V5, P42, DOI DOI 10.3149/FTH.0501.42 Marcus A, 2009, J APPL BEHAV ANAL, V42, P335, DOI 10.1901/jaba.2009.42-335 MCCURDY BL, 1988, J SCHOOL PSYCHOL, V26, P371, DOI 10.1016/0022-4405(88)90044-1 McGraw-Hunter M, 2006, BRAIN INJURY, V20, P1061, DOI 10.1080/02699050600912163 MEHARG SS, 1991, CHILD FAM BEHAV THER, V13, P1 MIKLICH DR, 1977, J BEHAV THER EXP PSY, V8, P125, DOI 10.1016/0005-7916(77)90032-5 PIGOTT HE, 1987, J CLIN CHILD PSYCHOL, V16, P106, DOI 10.1207/s15374424jccp1602_1 Possell LE, 1999, COGN BEHAV PRACT, V6, P99, DOI 10.1016/S1077-7229(99)80017-0 Rickards-Schlichting K.. A., 2004, J APPL SCH PSYCHOL, V20, P47, DOI DOI 10.1300/J370V20N02_04 SCHUNK DH, 1989, J EDUC PSYCHOL, V81, P155, DOI 10.1037//0022-0663.81.2.155 Sherer M, 2001, BEHAV MODIF, V25, P140, DOI 10.1177/0145445501251008 Wert BY, 2003, J POSIT BEHAV INTERV, V5, P30, DOI 10.1177/10983007030050010501 WINFREY ML, 1993, PERCEPT MOTOR SKILL, V77, P907 WOLTERSDORF MA, 1992, CHILD FAM BEHAV THER, V14, P53, DOI 10.1300/J019v14n02_04 Wright C. J., 2009, International Journal of Sport and Exercise Psychology, V7, P18 Zetou E., 2008, ATHLETIC INSIGHT ONL, V10 NR 53 TC 2 Z9 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0033-3085 J9 PSYCHOL SCHOOLS JI Psychol. Schools PD JAN PY 2012 VL 49 IS 1 SI SI BP 52 EP 70 DI 10.1002/pits.20618 PG 19 WC Psychology, Educational SC Psychology GA 869ER UT WOS:000298579600007 ER PT J AU Prater, MA Carter, N Hitchcock, C Dowrick, P AF Prater, Mary Anne Carter, Nari Hitchcock, Caryl Dowrick, Peter TI Video self-modeling to improve academic performance: A literature review SO PSYCHOLOGY IN THE SCHOOLS LA English DT Review ID AUTISM SPECTRUM DISORDERS; STUDENTS; CHILDREN; INTERVENTIONS; ADOLESCENTS; BEHAVIOR; SCHOOL AB Video self-modeling (VSM) has been used for decades to effectively improve individuals' behaviors and skills. The purpose of this review is to locate and analyze published studies that used VSM for typical school-based academic skills to determine the effect of VSM interventions on students' academic performance. Only eight studies were located that met the selection criteria. Based on the results of these 8 studies, VSM shows promise for improving academic performance, although the small number of studies limits our ability to draw strong conclusions about the efficacy of VSM across the school age span and across various academic skills. (C) 2011 Wiley Periodicals, Inc. C1 [Prater, Mary Anne] Brigham Young Univ, McKay Sch Educ MCKB Provo 340, Provo, UT 84602 USA. [Hitchcock, Caryl; Dowrick, Peter] Univ Hawaii Manoa, Honolulu, HI 96822 USA. RP Prater, MA (reprint author), Brigham Young Univ, McKay Sch Educ MCKB Provo 340, Provo, UT 84602 USA. EM Prater@byu.edu CR AYALA S, 2010, THESIS U CALIFORNIA Baker S. D., 2009, ED TREATMENT CHILDRE, V32, P403, DOI DOI 10.1353/ETC.0.0065 Bellini S, 2007, EXCEPT CHILDREN, V73, P264 Bray M. A., 1998, SPECIAL SERVICES SCH, V14, P105, DOI 10.1300/J008v14n01_07 Buggey T, 2007, J POSIT BEHAV INTERV, V9, P151, DOI 10.1177/10983007070090030301 Buggey T, 2011, FOCUS AUTISM DEV DIS, V26, P25, DOI 10.1177/1088357609344430 BURTON C, 2011, THESIS B YOUNG U PRO Cihak David F, 2008, Journal of Special Education Technology, V23 Clare SK, 2000, PSYCHOL SCHOOLS, V37, P517, DOI 10.1002/1520-6807(200011)37:6<517::AID-PITS4>3.0.CO;2-Y CLARKE MA, 2001, SCH PSYCHOL REV, V38, P403 Delano ME, 2007, J APPL BEHAV ANAL, V40, P345, DOI 10.1901/jaba.2007.50-06 Dowrick P. W., 2005, J PREVENTION INTERVE, V29, P131, DOI DOI 10.1300/J005V29N01_09 DOWRICK PW, SELF MODEL IN PRESS DOWRICK PW, 1995, J DEV PHYS DISABIL, V7, P25, DOI 10.1007/BF02578712 DOWRICK PW, 1999, PSYCHOLOGY, V8, P23, DOI DOI 10.1016/S0962-1849(99)80009-2 Dowrick PW, 2006, J SPEC EDUC, V39, P194, DOI 10.1177/00224669060390040101 Hart JE, 2008, INTERV SCH CLIN, V44, P116, DOI 10.1177/1053451207310346 Hartley E. T., 2002, J APPL SCH PSYCHOL, V19, P51, DOI 10.1300/J008v19n01_04 Hitchcock CH, 2004, LEARN DISABILITY Q, V27, P89, DOI 10.2307/1593644 HITCHCOCK CH, 2003, SPECIAL ED, V24, P36, DOI DOI 10.1177/074193250302400104 KAHN JS, 1990, SCHOOL PSYCHOL REV, V19, P196 KIMRUPNOW WS, 2001, J ASIA PACIFIC SPECI, V1, P13 Macleod F, 2007, SCHOOL PSYCHOL INT, V28, P555, DOI 10.1177/0143034307085658 Marcus A, 2009, J APPL BEHAV ANAL, V42, P335, DOI 10.1901/jaba.2009.42-335 Possell LE, 1999, COGN BEHAV PRACT, V6, P99, DOI 10.1016/S1077-7229(99)80017-0 Schunk D. H., 2007, MOTIVATION ED THEORY SCHUNK DH, 1989, J EDUC PSYCHOL, V81, P155, DOI 10.1037//0022-0663.81.2.155 Woolfolk A. E., 2010, ED PSYCHOL NR 28 TC 3 Z9 3 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0033-3085 J9 PSYCHOL SCHOOLS JI Psychol. Schools PD JAN PY 2012 VL 49 IS 1 SI SI BP 71 EP 81 DI 10.1002/pits.20617 PG 11 WC Psychology, Educational SC Psychology GA 869ER UT WOS:000298579600008 ER PT J AU Kehle, TJ Bray, MA Byer-alcorace, GF Theodore, LA Kovac, LM AF Kehle, Thomas J. Bray, Melissa A. Byer-alcorace, Gabriel F. Theodore, Lea A. Kovac, Lisa M. TI Augmented self-modeling as an intervention for selective mutism SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID ELECTIVE MUTISM; PHENELZINE TREATMENT; CHILDREN; ANXIETY; GIRL; MUTE; CBT AB Selective mutism is a rare disorder that is difficult to treat. It is often associated with oppositional defiant behavior, particularly in the home setting, social phobia, and, at times, autism spectrum disorder characteristics. The augmented self-modeling treatment has been relatively successful in promoting rapid diminishment of selective mutism and the associated features. Further, it is perhaps the least intrusive of the treatments currently used. (C) 2011 Wiley Periodicals, Inc. C1 [Bray, Melissa A.] Univ Connecticut, Dept Educ Psychol, Sch Psychol Program, Storrs, CT 06269 USA. [Theodore, Lea A.] Coll William & Mary, Williamsburg, VA 23187 USA. RP Bray, MA (reprint author), Univ Connecticut, Dept Educ Psychol, Sch Psychol Program, U-2064 Storrs, Storrs, CT 06269 USA. EM Mbray@uconn.edu CR Amari A, 1999, Pediatr Rehabil, V3, P59 American Psychiatric Association, 2000, DIAGN STAT MAN MENT Anstendig K, 1998, PSYCHOTHERAPY, V35, P381, DOI 10.1037/h0087851 Beare P, 2008, J EMOT BEHAV DISORD, V16, P248, DOI 10.1177/1063426608317356 BLACK B, 1994, J AM ACAD CHILD PSY, V33, P1000, DOI 10.1097/00004583-199409000-00010 BLACK B, 1992, J AM ACAD CHILD PSY, V31, P1090, DOI 10.1097/00004583-199211000-00015 Blum NJ, 1998, J AM ACAD CHILD PSY, V37, P40, DOI 10.1097/00004583-199801000-00015 Carlson JS, 2008, SCHOOL PSYCHOL QUART, V23, P354, DOI 10.1037/1045-3830.23.3.354 Carlson JS, 1999, J CHILD ADOL PSYCHOP, V9, P293, DOI 10.1089/cap.1999.9.293 Chorpita B. F., 2007, MODULAR COGNITIVE BE Cohan SL, 2006, J CHILD PSYCHOL PSYC, V47, P1085, DOI 10.1111/j.1469-7610.2006.01662.x Dowrick PW, 1999, APPL PREV PSYCHOL, V8, P23, DOI 10.1016/S0962-1849(99)80009-2 Dummit E S 3rd, 1996, J Am Acad Child Adolesc Psychiatry, V35, P615, DOI 10.1097/00004583-199605000-00016 Fung DSS, 2002, J AM ACAD CHILD PSY, V41, P112, DOI 10.1097/00004583-200202000-00003 Golwyn DH, 1999, J CHILD ADOL PSYCHOP, V9, P109, DOI 10.1089/cap.1999.9.109 GOLWYN DH, 1990, J CLIN PSYCHIAT, V51, P384 HOLMBECK GN, 1992, PSYCHOTHER, V29, P661, DOI 10.1037/0033-3204.29.4.661 KEHLE, 2009, BEHAV INTERVENTIONS KEHLE TJ, 1990, SCHOOL PSYCHOL REV, V19, P115 KEHLE TJ, 1998, HELPING CHILDREN HOM, P263 KEHLE TJ, 2009, CHILDRENS NEEDS, V3, P293 KEHLE TJ, 2006, CHILDRENS NEEDS, V3, P293 Kehle TJ, 1998, J SCHOOL PSYCHOL, V36, P247, DOI 10.1016/S0022-4405(98)00013-2 Lehman RB, 2002, J PSYCHIATR NEUROSCI, V27, P124 LYSNE A, 1999, CHILD THERAP SER, P83 Mendlowitz SL, 1999, J AM ACAD CHILD PSY, V38, P1223, DOI 10.1097/00004583-199910000-00010 MENDOLOWITZ S, 1996, COPING BEAR WORKBOOK O'Reilly M, 2008, BEHAV MODIF, V32, P182, DOI [10.1177/0145445507309018, 10.1177/0145447309018] OREILLY MF, 2006, ANTECEDENT ASSESSMEN, P187 Reuther ET, 2011, J CLIN CHILD ADOLESC, V40, P156, DOI 10.1080/15374416.2011.533415 Rhode G., 1993, TOUGH KID BOOK PRACT Rye MS, 1999, J BEHAV THER EXP PSY, V30, P313, DOI 10.1016/S0005-7916(99)00030-0 SCOTT E, 1977, J CHILD PSYCHOL PSYC, V18, P263, DOI 10.1111/j.1469-7610.1977.tb00438.x STANDART S, 2003, CHILD ADOLESCENT MEN, V8, P154, DOI 10.1111/1475-3588.00065 Stone BP, 2002, SCHOOL PSYCHOL QUART, V17, P168, DOI 10.1521/scpq.17.2.168.20857 TATEM DW, 1995, CONTEMP FAM THER, V17, P177, DOI 10.1007/BF02252357 Thomsen PH, 1999, NORD J PSYCHIAT, V53, P427, DOI 10.1080/080394899427656 VALNER J, 1995, PSYCHOANALYTIC STUDY, P327 Vecchio J, 2009, BEHAV THER, V40, P380, DOI 10.1016/j.beth.2008.10.005 WATSON ST, 1992, PSYCHOL SCH, V29, P359 Wong Priscilla, 2010, Psychiatry (Edgmont), V7, P23 Yanof J, 1996, J Am Psychoanal Assoc, V44, P79 NR 42 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0033-3085 J9 PSYCHOL SCHOOLS JI Psychol. Schools PD JAN PY 2012 VL 49 IS 1 SI SI BP 93 EP 103 DI 10.1002/pits.21589 PG 11 WC Psychology, Educational SC Psychology GA 869ER UT WOS:000298579600010 ER PT J AU Dixon, JA Holden, JG Mirman, D Stephen, DG AF Dixon, James A. Holden, John G. Mirman, Daniel Stephen, Damian G. TI Multifractal Dynamics in the Emergence of Cognitive Structure SO TOPICS IN COGNITIVE SCIENCE LA English DT Article DE Fractals; Multifractals; Diffusion; Emergence; Power laws ID REPRESENTATIONAL CHANGE; DOUBLE DISSOCIATIONS; CRITICAL EXPONENTS; MEMORY RETRIEVAL; DISCOVERY; NOISE; PERFORMANCE; AUTISM AB The complex-systems approach to cognitive science seeks to move beyond the formalism of information exchange and to situate cognition within the broader formalism of energy flow. Changes in cognitive performance exhibit a fractal (i.e., power-law) relationship between size and time scale. These fractal fluctuations reflect the flow of energy at all scales governing cognition. Information transfer, as traditionally understood in the cognitive sciences, may be a subset of this multiscale energy flow. The cognitive system exhibits not just a single power-law relationship between fluctuation size and time scale but actually exhibits many power-law relationships, whether over time or space. This change in fractal scaling, that is, multifractality, provides new insights into changes in energy flow through the cognitive system. We survey recent findings demonstrating the role of multifractality in (a) understanding atypical developmental outcomes, and (b) predicting cognitive change. We propose that multifractality provides insights into energy flows driving the emergence of cognitive structure. C1 [Stephen, Damian G.] Harvard Univ, Wyss Inst Biol Inspired Engn, Boston, MA 02115 USA. [Dixon, James A.] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA. [Dixon, James A.] Haskins Labs Inc, New Haven, CT 06511 USA. [Holden, John G.] Univ Cincinnati, Dept Psychol, Cincinnati, OH 45221 USA. RP Stephen, DG (reprint author), Harvard Univ, Wyss Inst Biol Inspired Engn, 3 Blackfan Circle,Floor 5, Boston, MA 02115 USA. 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Cogn. Sci. PD JAN PY 2012 VL 4 IS 1 BP 51 EP 62 DI 10.1111/j.1756-8765.2011.01162.x PG 12 WC Psychology, Experimental SC Psychology GA 877EG UT WOS:000299159200007 PM 22253177 ER PT J AU Obrusnikova, I Miccinello, DL AF Obrusnikova, Iva Miccinello, Dannielle L. TI Parent Perceptions of Factors Influencing After-School Physical Activity of Children With Autism Spectrum Disorders SO ADAPTED PHYSICAL ACTIVITY QUARTERLY LA English DT Article DE physical activity; autism spectrum disorders; barriers; obesity ID ENVIRONMENTAL BARRIERS; ADOLESCENTS; BEHAVIORS; PARTICIPATION; DISABILITIES; STUDENTS; ADULTS; YOUTH AB The study assessed parental perceptions of the benefits of physical activity (PA) and the factors that influence participation of children with autism spectrum disorders in PA after school. Data were collected from 103 parents using an online open-ended questionnaire and focus-group interviews. Data were analyzed using a socioecological model. Parents provided 225 responses that were coded as advantages, 106 as disadvantages, 225 as facilitators, and 250 as barriers of PA. The most frequently reported advantages were physical, followed by psychosocial, and cognitive. Disadvantages were psychosocial and physical. The most frequently reported barriers were intrapersonal, followed by interpersonal, physical, community, and institutional. Facilitators were intrapersonal, followed by physical, interpersonal, community, and institutional. Public policy factors were elicited in the interviews. C1 [Obrusnikova, Iva] Univ Delaware, Behav Hlth & Nutr Dept, Newark, DE 19716 USA. [Miccinello, Dannielle L.] Univ Delaware, Kinesiol & Appl Physiol Dept, Newark, DE 19716 USA. RP Obrusnikova, I (reprint author), Univ Delaware, Behav Hlth & Nutr Dept, Newark, DE 19716 USA. 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PD JAN PY 2012 VL 29 IS 1 BP 63 EP 80 PG 18 WC Rehabilitation; Sport Sciences SC Rehabilitation; Sport Sciences GA 876BU UT WOS:000299082800004 PM 22190053 ER PT J AU Woll, B Morgan, G AF Woll, Bencie Morgan, Gary TI Language impairments in the development of sign: Do they reside in a specific modality or are they modality-independent deficits? SO BILINGUALISM-LANGUAGE AND COGNITION LA English DT Article DE sign language; modality; language impairments ID WILLIAMS-SYNDROME; DOWN-SYNDROME; POLYGLOT SAVANT; CHILDREN; ABILITIES; ACQUISITION; MEMORY; SPOKEN AB Various theories of developmental language impairments have sought to explain these impairments in modality-specific ways - for example, that the language deficits in SLI or Down syndrome arise from impairments in auditory processing. Studies of signers with language impairments, especially those who are bilingual in a spoken language as well as a sign language, provide a unique opportunity to contrast abilities across language in two modalities (cross-modal bilingualism). The aim of the article is to examine what developmental sign language impairments can tell us about the relationship between language impairments and modality. A series of individual and small group studies are presented here illustrating language impairments in sign language users and cross-modal bilinguals, comprising Landau-Kleffner syndrome, Williams syndrome, Down syndrome, Autism and SLI. We conclude by suggesting how studies of sign language impairments can assist researchers to explore how different language impairments originate from different parts of the cognitive, linguistic and perceptual systems. C1 [Woll, Bencie; Morgan, Gary] UCL, Deafness Cognit & Language Res Ctr, London WC1E 6BT, England. 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Cogn. PD JAN PY 2012 VL 15 IS 1 SI SI BP 75 EP 87 DI 10.1017/S1366728911000459 PG 13 WC Linguistics; Psychology, Experimental SC Linguistics; Psychology GA 862RM UT WOS:000298111800006 ER PT J AU Matthews, NL Goldberg, WA Lukowski, AF Osann, K Abdullah, MM Ly, AR Thorsen, K Spence, MA AF Matthews, Nicole L. Goldberg, Wendy A. Lukowski, Angela F. Osann, Kathryn Abdullah, Maryam M. Ly, Agnes R. Thorsen, Kara Spence, M. Anne TI Does theory of mind performance differ in children with early-onset and regressive autism? SO DEVELOPMENTAL SCIENCE LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; APPEARANCE-REALITY DISTINCTION; INTERNAL STATE LANGUAGE; THEORY-OF-MIND; SPECTRUM DISORDERS; INDIVIDUAL-DIFFERENCES; EXECUTIVE FUNCTION; ASPERGER-SYNDROME; CENTRAL COHERENCE; TASK-PERFORMANCE AB A deficit in theory of mind (ToM), or the ability to infer the mental states of others, has been implicated as one of the major characteristics of Autism Spectrum Disorder (ASD); however, little attention has been devoted to possible differences in ToM ability within ASD. The current study examined ToM performance in children with early-onset autism and regressive autism in comparison to typically developing children. Results indicated that children in the regressive autism group performed significantly better than the early-onset autism group on the non-verbal appearancereality task. 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Sci. PD JAN PY 2012 VL 15 IS 1 BP 25 EP 34 DI 10.1111/j.1467-7687.2011.01094.x PG 10 WC Psychology, Developmental; Psychology, Experimental SC Psychology GA 877DU UT WOS:000299158000004 PM 22251289 ER PT J AU Evans, KE Demuth, K AF Evans, Karen E. Demuth, Katherine TI Individual differences in pronoun reversal: Evidence from two longitudinal case studies SO JOURNAL OF CHILD LANGUAGE LA English DT Article ID AUTISTIC-CHILDREN; PERSONAL PRONOUNS; PRONOMINAL ERRORS; SPEECH; ACQUISITION; PERSPECTIVE; IMITATION; DISORDER; LEARN; VIEW AB Pronoun reversal, the use of you for self-reference and I for an addressee, has often been associated with Autism Spectrum Disorder (ASD) and impaired language. However, recent case studies have shown the phenomenon also to occur in typically developing and even precocious talkers. This study examines longitudinal corpus data from two children, a typically developing girl, and a boy with Asperger's syndrome. Both were precocious talkers who reversed the majority of their personal pronouns for several months. A comparison of the children's behaviors revealed quantitative and qualitative differences in pronoun use: the girl showed 'semantic confusion', using second person pronouns for self-reference, whereas the boy showed a discourse-pragmatic deficit related to perspective-taking. The results suggest that there are multiple mechanisms underlying pronoun reversal and provide qualified support for both the Name/Person Hypothesis (Clark, 1978; Charney, 1980b) and the Plurifunctional Pronoun Hypothesis (Chiat, 1982). C1 [Evans, Karen E.] Univ Minnesota, Dept Speech Language Hearing Sci, Minneapolis, MN 55455 USA. [Demuth, Katherine] Macquarie Univ, Dept Linguist, N Ryde, NSW 2109, Australia. RP Evans, KE (reprint author), Univ Minnesota, Dept Speech Language Hearing Sci, Minneapolis, MN 55455 USA. EM snavenerak@gmail.com CR BARTAK L, 1975, BRIT J PSYCHIAT, V126, P127, DOI 10.1192/bjp.126.2.127 BARTAK L, 1974, J AUTISM CHILD SCHIZ, V4, P217, DOI 10.1007/BF02115227 CHARNEY R, 1980, J CHILD LANG, V7, P509 Charney R., 1980, INT J LANG COMM DIS, V15, P39, DOI 10.3109/13682828009011369 CHIAT S, 1982, J CHILD LANG, V9, P359 Chiat S., 1986, LANG ACQUIS, P339 Clark E. V., 1978, HUMAN GROWTH DEV, P85 Cooley CH, 1908, PSYCHOL REV, V15, P339, DOI 10.1037/h0071960 Dale P. S., 1993, J CHILD LANG, V20, P571 Demuth K, 2006, LANG SPEECH, V49, P137 FAY WH, 1971, J SPEECH HEAR DISORD, V36, P242 Fenson L, 1993, MACARTHUR COMMUNICAT Freitag CM, 2006, EUR CHILD ADOLES PSY, V15, P282, DOI 10.1007/s00787-006-0533-8 Halliday M. 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Child Lang. PD JAN PY 2012 VL 39 IS 1 BP 162 EP 191 DI 10.1017/S0305000911000043 PG 30 WC Psychology, Developmental; Linguistics; Psychology, Experimental SC Psychology; Linguistics GA 875QO UT WOS:000299049100007 PM 21669013 ER PT J AU Van Hulle, CA Schmidt, NL Goldsmith, HH AF Van Hulle, Carol A. Schmidt, Nicole L. Goldsmith, H. Hill TI Is sensory over-responsivity distinguishable from childhood behavior problems? A phenotypic and genetic analysis SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Sensory modulation problems; psychopathology; twins; middle childhood ID YOUNG-CHILDREN; ADOLESCENT PSYCHOPATHOLOGY; AUTISM; PARTICIPATION; DEFENSIVENESS; QUESTIONNAIRE; TEMPERAMENT; DYSFUNCTION; DISORDERS; ZYGOSITY AB Background: Although impaired sensory processing accompanies various clinical conditions, the question of its status as an independent disorder remains open. Our goal was to delineate the comorbidity (or lack thereof) between childhood psychopathology and sensory over-responsivity (SOR) in middle childhood using phenotypic and behavior-genetic analyses. Method: Participants (N = 970) were drawn from the Wisconsin Twin Project, a population-based sample of twins and their families. Mothers completed a sensory responsivity checklist when their offspring were on average 7 years old, followed by a diagnostic interview (Diagnostic Interview Schedule for Children; DISC) within 6-12 months. We examined the incidence of DISC diagnoses - attention deficit hyperactivity disorder, conduct disorder, oppositional defiant disorder, agoraphobia, general anxiety, obsessive-compulsive disorder, panic disorder, separation anxiety, social phobia, specific phobia, depression, enuresis, trichtollomania, tics, selective mutism, and pica - among children with SOR, and vice versa. Children with autism or pervasive developmental disorders were excluded from the present study. In addition, we examined parent-reported physical health diagnoses among nondiagnosed children and three groups of children with SOR and/or DISC diagnoses. Biometric models explored common underlying genetic and environmental influences on symptoms of SOR and psychopathology. Results: A majority of individuals who screened positive for SOR did not qualify for a DISC diagnosis (58.2%), and vice versa (68.3%). Children who screened positive for SOR only and typical children had similar rates of physical health problems. Turning to a dimensional approach, multivariate twin models demonstrated that modest covariation between SOR and DISC symptoms could be entirely accounted for by common underlying genetic effects. Conclusions: Our results suggest that SOR occurs independently of recognized childhood psychiatric diagnoses but is also a relatively frequent comorbid condition with recognized diagnoses. Genetic sources of this comorbidity are implicated. C1 [Van Hulle, Carol A.; Schmidt, Nicole L.; Goldsmith, H. Hill] Univ Wisconsin, Waisman Ctr, Madison, WI 53706 USA. [Goldsmith, H. Hill] Univ Wisconsin, Dept Psychol, Madison, WI 53706 USA. RP Van Hulle, CA (reprint author), Univ Wisconsin, Waisman Ctr, 1500 Highland Ave, Madison, WI 53706 USA. EM cavanhulle@wisc.edu CR Aarons GA, 2008, J ADOLESCENT HEALTH, V43, P260, DOI [10.1016/j.jadohealth.2008.01.013, 10.1016/j.jadohealth.2008.01.03] Armstrong J.M., 2003, MACARTHUR WORKING GR Aron E.N., 1997, J PERS SOC PSYCHOL, V73, P354 AYRES AJ, 1965, PERCEPT MOTOR SKILL, V20, P335 Baranek GT, 2006, J CHILD PSYCHOL PSYC, V47, P591, DOI 10.1111/j.1469-7610.2005.01546.x Bar-Shalita T, 2008, DEV MED CHILD NEUROL, V50, P932, DOI 10.1111/j.1469-8749.2008.03095.x Ben-Sasson A, 2009, J ABNORM CHILD PSYCH, V37, P705, DOI 10.1007/s10802-008-9295-8 Browne M. 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C., 1992, METHODOLOGY GENETIC Price T S, 2000, Twin Res, V3, P129, DOI 10.1375/136905200320565391 Reynolds S, 2008, J AUTISM DEV DISORD, V38, P516, DOI 10.1007/s10803-007-0418-9 ROBINS LN, 1988, ARCH GEN PSYCHIAT, V45, P1069 Rogers SJ, 2005, J CHILD PSYCHOL PSYC, V46, P1255, DOI 10.1111/j.1469-7610.2005.01431.x Royeen C. B., 1991, SENSORY INTEGRATION, P108 Schoen SA, 2008, AM J OCCUP THER, V62, P393 Thomasgard M, 2003, CLIN PEDIATR, V42, P197, DOI 10.1177/000992280304200302 NR 34 TC 10 Z9 10 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD JAN PY 2012 VL 53 IS 1 BP 64 EP 72 DI 10.1111/j.1469-7610.2011.02432.x PG 9 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 861EZ UT WOS:000298003300009 PM 21797864 ER PT J AU Larsson, H Anckarsater, H Rastam, M Chang, Z Lichtenstein, P AF Larsson, Henrik Anckarsater, Henrik Rastam, Maria Chang, Zheng Lichtenstein, Paul TI Childhood attention-deficit hyperactivity disorder as an extreme of a continuous trait: a quantitative genetic study of 8,500 twin pairs SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE ADHD; DSM; etiology; twins ID DEFICIT/HYPERACTIVITY DISORDER; ENVIRONMENTAL CONTRIBUTIONS; SUBTHRESHOLD DIAGNOSES; TELEPHONE INTERVIEW; BEHAVIOR PROBLEMS; LATENT STRUCTURE; AUTISM-TICS; LATE-ONSET; A-TAC; ADHD AB Background: Although the clinical utility of categorically defined attention-deficit hyperactivity disorder (ADHD) is well established, there is also strong evidence supporting the notion of ADHD as an extreme of a continuous trait. Nevertheless, the question of whether the etiology is the same for different levels of DSMIV ADHD symptoms remains to be investigated. The aim of this study was to assess genetic links between the extreme and the subthreshold range of ADHD symptoms. Method: Parents of all Swedish 9- and 12-year-old twins born between 1992 and 2000 were interviewed for DSM-IV ADHD symptoms and associated conditions. Two validated cutoff values were used for screening and assigning research diagnoses. Response rate was 80%. Twin methods were applied to investigate the extent to which ADHD is etiologically distinct from subthreshold variations in ADHD symptoms. Results: Extremes analyses indicated a strong genetic link between the extreme and the subthreshold variation, with almost identical group heritability estimates around .60 for the diagnostic ( prevalence 1.78%) and screening ( prevalence 9.75%) criteria of ADHD. Conclusion: A strong genetic link between the extreme and the subthreshold variation of DSM-IV based assessments of ADHD symptoms was found. The data suggest that ADHD is best viewed as the quantitative extreme of genetic and environmental factors operating dimensionally throughout the distribution of ADHD symptoms, indicating that the same etiologic factors are involved in the full range of symptoms of inattention, hyperactivity and impulsivity. C1 [Larsson, Henrik; Chang, Zheng; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden. [Larsson, Henrik] Karolinska Inst, Ctr Neurodev Disorders, SE-17177 Stockholm, Sweden. [Anckarsater, Henrik] Univ Gothenburg, Sahlgrens Acad, Inst Neurosci & Physiol, Dept Forens Psychiat, Gothenburg, Sweden. [Rastam, Maria] Lund Univ, Dept Clin Sci, Div Child & Adolescent Psychiat, Lund, Sweden. RP Larsson, H (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, POB 281, SE-17177 Stockholm, Sweden. EM henrik.larsson@ki.se FU Swedish Council for Working Life and Social Research; Swedish Research Council [2010-3184]; Swedish brain foundation; Karolinska Institutet center of Neurodevelopmental Disorders FX This study was supported in part by the Swedish Council for Working Life and Social Research and the Swedish Research Council. Henrik Larsson was supported by grants from the Swedish Research Council (2010-3184), Swedish brain foundation and Karolinska Institutet center of Neurodevelopmental Disorders. H. L. had full access to all the data and takes responsibility for the integrity of the data and the accuracy of the data analysis. CR Anckarsater H, 2006, AM J PSYCHIAT, V163, P1239, DOI 10.1176/appi.ajp.163.7.1239 Biederman J, 2005, BIOL PSYCHIAT, V57, P1215, DOI 10.1016/j.biopsych.2004.10.020 Biederman J, 2002, AM J PSYCHIAT, V159, P1556, DOI 10.1176/appi.ajp.159.9.1556 Burt SA, 2009, PSYCHOL BULL, V135, P608, DOI 10.1037/a0015702 DEFRIES JC, 1988, ACTA GENET MED GEMEL, V37, P205 Evans D. M., 2000, GENESCREEN, V1, P77, DOI 10.1046/j.1466-9218.2000.00027.x Faraone SV, 2006, BIOL PSYCHIAT, V60, P1081, DOI 10.1016/j.biopsych.2006.03.060 Faraone SV, 2009, PSYCHOL MED, V39, P685, DOI 10.1017/S0033291708003917 Faraone SV, 2005, BIOL PSYCHIAT, V57, P1313, DOI 10.1016/j.biopsych.2004.11.024 Franke B, 2009, HUM GENET, V126, P13, DOI 10.1007/s00439-009-0663-4 Frazier TW, 2007, NEUROPSYCHOLOGY, V21, P45, DOI 10.1037/0894-4105.21.1.45 GJONE H, 1995, J CHILD PSYCHOL PSYC, V36, P1213, DOI 10.1111/j.1469-7610.1995.tb01366.x Goldman LS, 1998, JAMA-J AM MED ASSOC, V279, P1100, DOI 10.1001/jama.279.14.1100 GOODMAN R, 1989, J CHILD PSYCHOL PSYC, V30, P691, DOI 10.1111/j.1469-7610.1989.tb00782.x Hannelius U, 2007, TWIN RES HUM GENET, V10, P604, DOI 10.1375/twin.10.4.604 Hansson SL, 2005, BRIT J PSYCHIAT, V187, P262, DOI 10.1192/bjp.187.3.262 Haslam N, 2006, AUST NZ J PSYCHIAT, V40, P639, DOI 10.1080/j.1440-1614.2006.01863.x Hudziak JJ, 2005, AM J PSYCHIAT, V162, P1614, DOI 10.1176/appi.ajp.162.9.1614 Larson T, 2010, BMC PSYCHIATRY, V10, DOI 10.1186/1471-244X-10-1 Levy F, 1996, J CHILD PSYCHOL PSYC, V37, P569, DOI 10.1111/j.1469-7610.1996.tb01443.x Levy F, 1997, J AM ACAD CHILD PSY, V36, P737, DOI 10.1097/00004583-199706000-00009 Lichtenstein P., 2010, AM J PSYCHIAT, V167, P357 Lichtenstein P, 2006, TWIN RES HUM GENET, V9, P875, DOI 10.1375/183242706779462444 Lichtenstein P, 2002, J INTERN MED, V252, P184, DOI 10.1046/j.1365-2796.2002.01032.x Lubke GH, 2009, J AM ACAD CHILD PSY, V48, P1085, DOI 10.1097/CHI.0b013e3181ba3dbb Neale M.C., 2003, MX STAT MODELING Neale MC, 2006, TWIN RES HUM GENET, V9, P481 Nigg JT, 2005, BIOL PSYCHIAT, V57, P1224, DOI 10.1016/j.biopsych.2004.08.025 Plomin R, 2009, NAT REV GENET, V10, P872, DOI 10.1038/nrg2670 Plomin R., 2008, BEHAV GENETICS Plomin R, 2005, PSYCHOL BULL, V131, P592, DOI 10.1037/0033-2909.131.4.592 Poelmans G, 2011, AM J PSYCHIAT, V168, P365, DOI 10.1176/appi.ajp.2010.10070948 RAPOPORT JL, 1980, ARCH GEN PSYCHIAT, V37, P933 Rhee SH, 1999, J ABNORM PSYCHOL, V108, P24, DOI 10.1037//0021-843X.108.1.24 Robbers SCC, 2010, TWIN RES HUM GENET, V13, P79, DOI 10.1375/twin.13.1.79 Rohde LA, 2008, CHILD ADOL PSYCH CL, V17, P405, DOI [10.1016/j.chc.2007.11.007, 10.1016/.j.chc.2007.11.007] Scahill L, 1999, J AM ACAD CHILD PSY, V38, P976, DOI 10.1097/00004583-199908000-00013 Sherman DK, 1997, AM J PSYCHIAT, V154, P532 Simonoff E, 1997, ARCH GEN PSYCHIAT, V54, P801 Thapar A, 2009, J AM ACAD CHILD PSY, V48, P1051, DOI 10.1097/CHI.0b013e3181ba3e20 Thapar A, 1999, BRIT J PSYCHIAT, V174, P105, DOI 10.1192/bjp.174.2.105 Thapar A, 2000, J AM ACAD CHILD PSY, V39, P1528, DOI 10.1097/00004583-200012000-00015 Williams NM, 2010, LANCET, V376, P1401, DOI 10.1016/S0140-6736(10)61109-9 Wood A.C., 2010, PSYCHOL BULL, V376, P331 NR 44 TC 35 Z9 36 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD JAN PY 2012 VL 53 IS 1 BP 73 EP 80 DI 10.1111/j.1469-7610.2011.02467.x PG 8 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 861EZ UT WOS:000298003300010 PM 21923806 ER PT J AU Bennett, T Boyle, M Georgiades, K Georgiades, S Thompson, A Duku, E Bryson, S Fombonne, E Vaillancourt, T Zwaigenbaum, L Smith, I Mirenda, P Roberts, W Volden, J Waddell, C Szatmari, P AF Bennett, Teresa Boyle, Michael Georgiades, Katholiki Georgiades, Stelios Thompson, Ann Duku, Eric Bryson, Susan Fombonne, Eric Vaillancourt, Tracy Zwaigenbaum, Lonnie Smith, Isabel Mirenda, Pat Roberts, Wendy Volden, Joanne Waddell, Charlotte Szatmari, Peter CA Pathways ASD Study Team TI Influence of reporting effects on the association between maternal depression and child autism spectrum disorder behaviors SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Autistic disorder; Asperger's disorder; methodology; maternal depression; structural equation modeling ID DIAGNOSTIC INTERVIEW; INFORMANT DISCREPANCIES; PSYCHIATRIC-DISORDERS; PRESCHOOL-CHILDREN; MOTHERS; SYMPTOMS; RATINGS; PSYCHOPATHOLOGY; ADOLESCENTS; VALIDATION AB Background: Maximizing measurement accuracy is an important aim in child development assessment and research. Parents are essential informants in the diagnostic process, and past research suggests that certain parental characteristics may influence how they report information about their children. This has not been studied in autism spectrum disorders (ASD) to date. We aimed, therefore, to investigate the possible effect that maternal depression might have on a mothers reports of her childs ASD behaviors. Using structural equation modeling, we disaggregated shared from unique variation in the association between latent variable measures of maternal depression and ASD behaviors. Methods: Data were obtained from a study of preschoolers aged 2-4 newly diagnosed with ASD ( n = 214). Information from a parent questionnaire, a semi-structured parent interview, and a semi-structured observational assessment was used to develop a latent variable measure of child ASD behaviors. Mothers reported on their own depression symptoms. We first modeled the covariance between maternal depression and child ASD behavior. Then, to quantify unique variation, we added covariance terms between maternal depression and the residual variation associated with the individual measures of child ASD behaviors. Results: The model demonstrated excellent fit to the underlying data. Maternal self-report of depression symptoms exhibited a significant association with the unique variance of the questionnaire report but not with the latent variable measure of child ASD behavior. A gradient pattern of association was demonstrated between maternal depression and the unique variance of the ASD measures: most strongly for the maternal questionnaire report, more weakly for the maternal semi-structured interview, and to a trivial extent for the observational interview. Conclusions: Parental depression may influence reporting of ASD behaviors in preschoolers. Shared method effects may also contribute to bias. This finding highlights the importance of obtaining multimethod reports of child ASD symptoms. C1 [Bennett, Teresa; Boyle, Michael; Georgiades, Katholiki; Georgiades, Stelios; Thompson, Ann; Duku, Eric; Szatmari, Peter] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON L8N 3Z5, Canada. [Bryson, Susan; Smith, Isabel] Dalhousie Univ, IWK Hlth Ctr, Halifax, NS, Canada. [Fombonne, Eric] McGill Univ, Montreal, PQ, Canada. [Vaillancourt, Tracy] Univ Ottawa, Ottawa, ON, Canada. [Zwaigenbaum, Lonnie; Volden, Joanne] Univ Alberta, Edmonton, AB, Canada. [Mirenda, Pat; Waddell, Charlotte] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada. [Roberts, Wendy] Univ Toronto, Toronto, ON, Canada. [Waddell, Charlotte] Simon Fraser Univ, Vancouver, BC, Canada. RP Szatmari, P (reprint author), McMaster Univ, Offord Ctr Child Studies, Chedoke Site,Patterson Bldg,1200 Main St W, Hamilton, ON L8N 3Z5, Canada. EM szatmar@mcmaster.ca RI Vaillancourt, Tracy/F-8949-2015 CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Arbuckle J. L., 2006, AMOS VERSION 7 0 Boyle MH, 1997, J ABNORM CHILD PSYCH, V25, P399, DOI 10.1023/A:1025737124888 Boyle MH, 1997, J CHILD PSYCHOL PSYC, V38, P981, DOI 10.1111/j.1469-7610.1997.tb01615.x BriggsGowan MJ, 1996, J ABNORM CHILD PSYCH, V24, P749, DOI 10.1007/BF01664738 Bromley J, 2004, AUTISM, V8, P409, DOI 10.1177/1362361304047224 Browne MW, 1993, TESTING STRUCTURAL E, P136, DOI DOI 10.1177/0049124192021002001 Chi TC, 2002, J ABNORM CHILD PSYCH, V30, P387, DOI 10.1023/A:1015770025043 Chilcoat H., 1996, J AM ACAD CHILD ADOL, V36, P971 Constantino JN, 2004, J CHILD PSYCHOL PSYC, V45, P719, DOI 10.1111/j.1469-7610.2004.00266.x Constantino JN, 2003, J AUTISM DEV DISORD, V33, P427, DOI 10.1023/A:1025014929212 Constantino JN, 2000, AM J PSYCHIAT, V157, P2043, DOI 10.1176/appi.ajp.157.12.2043 Daniels JL, 2008, PEDIATRICS, V121, pE1357, DOI 10.1542/peds.2007-2296 De Los Reyes A, 2008, PSYCHOL ASSESSMENT, V20, P139, DOI 10.1037/1040-3590.20.2.139 De Los Reyes A, 2005, PSYCHOL BULL, V131, P483, DOI 10.1037/0033-2909.131.4.483 DEROGATIS LR, 1976, BRIT J PSYCHIAT, V128, P280, DOI 10.1192/bjp.128.3.280 DEROGATIS L R, 1973, Psychopharmacology Bulletin, V9, P13 Estes A, 2009, AUTISM, V13, P375, DOI 10.1177/1362361309105658 FERGUSSON DM, 1993, J ABNORM CHILD PSYCH, V21, P245, DOI 10.1007/BF00917534 Firat S, 2002, J KOREAN MED SCI, V17, P679 Gotham K, 2009, J AUTISM DEV DISORD, V39, P693, DOI 10.1007/s10803-008-0674-3 Gotham K, 2007, J AUTISM DEV DISORD, V37, P613, DOI 10.1007/s10803-006-0280-1 Hastings RP, 2005, J AUTISM DEV DISORD, V35, P635, DOI 10.1007/s10803-005-0007-8 HOROWITZ LM, 1988, J CONSULT CLIN PSYCH, V56, P885, DOI 10.1037//0022-006X.56.6.885 Hu LT, 1999, STRUCT EQU MODELING, V6, P1, DOI 10.1080/10705519909540118 Hunter EE, 2005, J NERV MENT DIS, V193, P131, DOI 10.1097/01.nmd.0000152786.61048.a1 Le Couteur A.H., 2008, J AUTISM DEV DISORD, V38, P371 Lord C., 1999, AUTISM DIAGNOSTIC OB LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Micali N, 2004, AUTISM, V8, P21, DOI 10.1177/1362361304040636 Najman JM, 2001, SOC PSYCH PSYCH EPID, V36, P186, DOI 10.1007/s001270170062 Pine E, 2006, AUTISM, V10, P344, DOI 10.1177/1362361306064434 RICHTERS JE, 1992, PSYCHOL BULL, V112, P485, DOI 10.1037/0033-2909.112.3.485 Risi S, 2006, J AM ACAD CHILD PSY, V45, P1094, DOI 10.1097/01.chi.0000227880.42780.0e Shaffer D, 2000, J AM ACAD CHILD PSY, V39, P28, DOI 10.1097/00004583-200001000-00014 Smith LE, 2008, J AUTISM DEV DISORD, V38, P876, DOI 10.1007/s10803-007-0461-6 Wolf L., 1989, J AUTISM DEV DISORD, V19, P10 NR 37 TC 8 Z9 8 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD JAN PY 2012 VL 53 IS 1 BP 89 EP 96 DI 10.1111/j.1469-7610.2011.02451.x PG 8 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 861EZ UT WOS:000298003300012 PM 21831239 ER PT J AU Kaale, A Smith, L Sponheim, E AF Kaale, Anett Smith, Lars Sponheim, Eili TI A randomized controlled trial of preschool-based joint attention intervention for children with autism SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Autism; joint attention; joint engagement; intervention; preschool; randomized controlled trial ID YOUNG-CHILDREN; SPECTRUM DISORDERS; DOWN-SYNDROME; LANGUAGE; PREDICTORS; INDIVIDUALS; DEFICITS; INFANT; SKILLS; MODEL AB Background: Deficits in joint attention (JA) and joint engagement (JE) represent a core problem in young children with autism as these affect language and social development. Studies of parent-mediated and specialist-mediated JA-intervention suggest that such intervention may be effective. However, there is little knowledge about the success of the intervention when done in preschools. Aim: Assess the effects of a preschool-based JA-intervention. Methods: 61 children (48 males) with autistic disorder (29-60 months) were randomized to either 8 weeks of JA-intervention, in addition to their preschool programs (n = 34), or to preschool programs only (n = 27). The intervention was done by preschool teachers with weekly supervision by trained counselors from Child and Adolescent Mental Health Clinics (CAMHC). Changes in JA and JE were measured by blinded independent testers using Early Social Communication Scale (ESCS) and video taped preschool teacher-child and mother-child play at baseline and post-intervention. Clinical trials registration: Clinicaltrials.gov:NCT00378157. Results: Intention-to-treat analysis showed significant difference between the intervention and the control group, with the intervention group yielding more JA initiation during interaction with the preschool teachers. The effect generalized to significantly longer duration of JE with the mothers. Conclusions: This is the first randomized study to show positive and generalized effects of preschool-based JA-intervention. C1 [Kaale, Anett; Sponheim, Eili] Oslo Univ Hosp, Div Mental Hlth & Addict, N-0319 Oslo, Norway. [Kaale, Anett; Smith, Lars] Eastern & So Norway, Ctr Child & Adolescent Mental Hlth, Oslo, Norway. RP Kaale, A (reprint author), Oslo Univ Hosp, Div Mental Hlth & Addict, POB 26, N-0319 Oslo, Norway. EM anett.kaale@r-bup.no FU South-Eastern Norway Regional Health Authority; Centre for Child and Adolescent Mental Health, Eastern and Southern Norway FX This study was supported by grants from South-Eastern Norway Regional Health Authority, and Centre for Child and Adolescent Mental Health, Eastern and Southern Norway. The authors gratefully acknowledge the participating parents, children, preschools teachers, and collaborating CAMHC. We also thank Connie Kasari for generously sharing her experience and material. Further, thanks to testers and research assistants for their contributions. CR Adamson LB, 2009, J AUTISM DEV DISORD, V39, P84, DOI 10.1007/s10803-008-0601-7 Aldred C, 2004, J CHILD PSYCHOL PSYC, V45, P1420, DOI 10.1111/j1469-7610.2004.00338.x American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th BAKEMAN R, 1984, CHILD DEV, V55, P1278, DOI 10.2307/1129997 Charman T, 2003, INT J LANG COMM DIS, V38, P265, DOI 10.1080/136820310000104830 Chiang CH, 2008, J AUTISM DEV DISORD, V38, P1898, DOI 10.1007/s10803-008-0586-2 Drew A, 2002, EUR CHILD ADOLES PSY, V11, P266, DOI 10.1007/s00787-002-0299-6 Green J, 2010, LANCET, V375, P2152, DOI 10.1016/S0140-6736(10)60587-9 Hagtvet B., 1985, REYNELL SPRAKTEST Harris SL, 2000, J AUTISM DEV DISORD, V30, P137, DOI 10.1023/A:1005459606120 Jones EA, 2006, BEHAV MODIF, V30, P782, DOI 10.1177/0145445506289392 Kasari C, 2010, CURR OPIN NEUROL, V23, P137, DOI 10.1097/WCO.0b013e32833775cd Kasari C, 2006, J CHILD PSYCHOL PSYC, V47, P611, DOI 10.1111/j.1469-7610.2005.01567.x Kasari C, 2008, J CONSULT CLIN PSYCH, V76, P125, DOI 10.1037/0022-006X.76.1.125 Kasari C, 2010, J AUTISM DEV DISORD, V40, P1045, DOI 10.1007/s10803-010-0955-5 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 LOVELAND KA, 1986, J AUTISM DEV DISORD, V16, P335, DOI 10.1007/BF01531663 Mullen E., 1997, MULLEN SCALES EARLY MUNDY P, 1994, DEV PSYCHOPATHOL, V6, P389, DOI 10.1017/S0954579400006003 Mundy P., 2006, DEV PSYCHOPATHOL, V1, P293 MUNDY P, 1986, J CHILD PSYCHOL PSYC, V27, P657, DOI 10.1111/j.1469-7610.1986.tb00190.x Mundy P., 2003, MANUAL ABRIDGED EARL Oosterling I, 2010, J AUTISM DEV DISORD, V40, P1447, DOI 10.1007/s10803-010-1004-0 Perepletchikova F, 2005, CLIN PSYCHOL-SCI PR, V12, P365, DOI 10.1093/clipsy/bpi045 R Development Core Team, 2010, R PROJ STAT COMP Reichow B, 2010, J AUTISM DEV DISORD, V40, P149, DOI 10.1007/s10803-009-0842-0 Sameroff AJ, 2003, DEV PSYCHOPATHOL, V15, P613, DOI 10.1017/S0954579403000312 SCAIFE M, 1975, NATURE, V253, P265, DOI 10.1038/253265a0 Schertz HH, 2007, J AUTISM DEV DISORD, V37, P1562, DOI 10.1007/s10803-006-0290-z Sherer MR, 2005, J CONSULT CLIN PSYCH, V73, P525, DOI 10.1037/0022-006X.73.3.525 Sigman M, 1999, MONOGR SOC RES CHILD, V64, P1, DOI 10.1111/1540-5834.00002 Taylor BA, 2008, J APPL BEHAV ANAL, V41, P377, DOI 10.1901/jaba.2008.41-377 Thurm A, 2007, J AUTISM DEV DISORD, V37, P1721, DOI 10.1007/s10803-006-0300-1 Hoef JMV, 2007, ECOLOGY, V88, P2766, DOI 10.1890/07-0043.1 Vismara LA, 2007, J POSIT BEHAV INTERV, V9, P214, DOI 10.1177/10983007070090040401 Whalen C, 2003, J CHILD PSYCHOL PSYC, V44, P456, DOI 10.1111/1469-7610.00135 NR 37 TC 22 Z9 23 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD JAN PY 2012 VL 53 IS 1 BP 97 EP 105 DI 10.1111/j.1469-7610.2011.02450.x PG 9 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 861EZ UT WOS:000298003300013 PM 21883204 ER PT J AU Moyson, T Roeyers, H AF Moyson, T. Roeyers, H. TI The overall quality of my life as a sibling is all right, but of course, it could always be better'. Quality of life of siblings of children with intellectual disability: the siblings' perspectives SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE disability; family; quality of life; siblings; support ID CHRONIC ILLNESS; DOWN-SYNDROME; PSYCHOLOGICAL ADJUSTMENT; GROUP INTERVENTION; PARENTS; IMPACT; CHILDHOOD; KNOWLEDGE; DISORDER; AUTISM AB Background The concept of family quality of life is becoming increasingly important in family support programmes. This concept describes the quality of life of all family members and the family system as a whole, but only the opinion of the parents has been included. The opinion of the siblings has been incorporated in the opinions of the parents, although research has shown that there is discordance between parents' and siblings' reports. The principal goal of this study is to investigate how young siblings of children with intellectual disability define their quality of life as a sibling. Method As we were more concerned with understanding the experience of being a sibling from the siblings' own frame of reference, we opted for a qualitative research design and more specifically used in-depth, phenomenology-based interviews. Data were sorted by means of a process of continuously comparing the codes according to the principles of grounded theory. Results Siblings described the following nine domains as domains of sibling quality of life: joint activities, mutual understanding, private time, acceptance, forbearance, trust in well-being, exchanging experiences, social support and dealing with the outside world. Conclusions This study shows not only that siblings can define their quality of life, but also that this definition of sibling quality of life differs from the family quality of life concept. Therefore, it may be not only a valuable addition to the family quality of life concept but also an appropriate concept to describe siblings' experience. C1 [Moyson, T.; Roeyers, H.] Univ Ghent, Dept Expt Clin & Hlth Psychol, Res Grp Dev Disorders, B-9000 Ghent, Belgium. RP Moyson, T (reprint author), Henri Dunantlaan 2, B-9000 Ghent, Belgium. EM tinneke.moyson@ugent.be CR Barbour R., 2007, DOING FOCUS GROUPS Bat-Chava Y, 2002, REHABIL PSYCHOL, V47, P73, DOI 10.1037//0090-5550.47.1.73 Bogdan R. 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Intell. Disabil. Res. PD JAN PY 2012 VL 56 IS 1 BP 87 EP 101 DI 10.1111/j.1365-2788.2011.01393.x PG 15 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 862LR UT WOS:000298092900007 PM 21366753 ER PT J AU Miller, E Buys, L Woodbridge, S AF Miller, E. Buys, L. Woodbridge, S. TI Impact of disability on families: grandparents' perspectives SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE communication; family relationships; grandparents; intellectual disability ID CHILDREN; ADJUSTMENT; SUPPORT; FATHERS; MOTHERS; AUTISM AB Background Caring for a child with a disability can be a unique and challenging experience, with families often relying on informal networks for support. Often, grandparents are key support resources, yet little is known about their roles and experiences. Reporting on data collected in a larger Australian study, this article explores grandparents' experiences of caring for a child with a disability and the impact on their family relationships and quality of life. Method A qualitative purposive sampling design was utilised; semi- structured interviews were conducted with 22 grandparents (17 women, 5 men) of children with a disability. Grandparents ranged in age from 55 to 75 years old and lived within a 90-min drive of Brisbane, Australia. Interviews were transcribed and responses analysed using a thematic approach, identifying categories, themes and patterns. Findings Four key themes characterised grandparents' views about their role in the family: holding own emotions (decision to be positive), self-sacrifice (decision to put family needs first), maintaining family relationships (being the 'go-between') and quality of life for family in the future (concerns about the future). Conclusions Grandparents are central to family functioning and quality of life, but this contribution comes with a significant cost to their own personal well-being. Implications for policy, practice and research are discussed, particularly grandparents' fear that their family could not cope without their support. C1 [Miller, E.; Buys, L.] Queensland Univ Technol, Sch Design, Fac Built Environm & Engn, Brisbane, Qld 4001, Australia. [Woodbridge, S.] Griffith Univ, Sch Human Serv & Social Work, Meadowbrook, Qld 4131, Australia. RP Miller, E (reprint author), Queensland Univ Technol, Sch Design, Fac Built Environm & Engn, GPO Box 2434, Brisbane, Qld 4001, Australia. EM e.miller@qut.edu.au CR Australian Bureau of Statistics, 2008, AUSTR SOC TRENDS FAM Baker T. L., 1999, DOING SOCIAL RES Baranowski M. 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Intell. Disabil. Res. PD JAN PY 2012 VL 56 IS 1 BP 102 EP 110 DI 10.1111/j.1365-2788.2011.01403.x PG 9 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 862LR UT WOS:000298092900008 PM 21366757 ER PT J AU Taylor, MJ Donner, EJ Pang, EW AF Taylor, M. J. Donner, E. J. Pang, E. W. TI fMRI and MEG in the study of typical and atypical cognitive development SO NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY LA English DT Article DE Cognitive development; Working memory; Set-shifting; Frontal lobes; Hippocampus; Preterm children; Children with ASD ID LOW-BIRTH-WEIGHT; VISUOSPATIAL WORKING-MEMORY; HUMAN CEREBRAL-CORTEX; RECOGNITION MEMORY; FUNCTIONAL MRI; CHILDREN; BRAIN; CHILDHOOD; AUTISM; FACES AB The tremendous changes in brain structure over childhood are critical to the development of cognitive functions. Neuroimaging provides a means of linking these brain-behaviour relations, as task protocols can be adapted for use with young children to assess the development of cognitive functions in both typical and atypical populations. This paper reviews some of our research using magnetoencephalography (MEG) and functional MRI (fMRI) in the study of cognitive development, with a focus on frontal lobe functions. Working memory for complex abstract patterns showed clear development in terms of the recruitment of frontal regions, seen with fMRI, with indications of strategy differences across the age range, from 6 to 35 years of age. Right hippocampal involvement was also evident in these n-back tasks, demonstrating its involvement in recognition in simple working memory protocols. Children born very preterm (7 to 9 years of age) showed reduced fMRI activation particularly in the precuneus and right hippocampal regions relative to control children. In a large normative n-back study (n=90) with upright and inverted faces, MEG data also showed right hippocampal activation that was present across the age range; frontal sources were evident only from 10 years of age. Other studies have investigated the development of set shifting, an executive function that is often deficit in atypical populations. fMRI showed recruitment of frontal areas, including the insula, that have significantly different patterns in children (7 to 14 years of age) with autism spectrum disorder compared to typically developing children, indicating that successful performance implicated differing strategies in these two groups of children. These types of studies will help our understanding of both normal brain-behaviour development and cognitive dysfunction in atypically developing populations. (C) 2011 Elsevier Masson SAS. All rights reserved. C1 [Taylor, M. J.] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada. [Taylor, M. J.; Pang, E. 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Twin studies showed a heritability of 38-90%, indicating strong genetic contributions. Yet it is unclear how many genes have been associated with ASD and how strong the evidence is. A comprehensive review and analysis of literature and data may bring a clearer big picture of autism genetics. We show that as many as 2193 genes, 2806 SNPs/VNTRs, 4544 copy number variations (CNVs) and 158 linkage regions have been associated with ASD by GWAS, genome-wide CNV studies, linkage analyses, low-scale genetic association studies, expression profiling and other low-scale experimental studies. To evaluate the evidence, we collected metadata about each study including clinical and demographic features, experimental design and statistical significance, and used a scoring and ranking approach to select a core data set of 434 high-confidence genes. The genes mapped to pathways including neuroactive ligand-receptor interaction, synapse transmission and axon guidance. To better understand the genes we parsed over 30 databases to retrieve extensive data about expression patterns, protein interactions, animal models and pharmacogenetics. We constructed a MySQL-based online database and share it with the broader autism research community at http://autismkb.cbi.pku.edu.cn, supporting sophisticated browsing and searching functionalities. C1 [Xu, Li-Ming; Li, Jia-Rui; Huang, Yue; Zhao, Min; Tang, Xing; Wei, Liping] Peking Univ, State Key Lab Prot & Plant Gene Res, Ctr Bioinformat, Coll Life Sci, Beijing 100871, Peoples R China. RP Wei, LP (reprint author), Peking Univ, State Key Lab Prot & Plant Gene Res, Ctr Bioinformat, Coll Life Sci, Beijing 100871, Peoples R China. EM weilp@mail.cbi.pku.edu.cn FU Natural Science Foundation of China [31025014]; 973 Basic Research Program [2011CBA01102]; Merck; Johnson and Johnson FX Funding for open access charge: National Outstanding Young Investigator Award from Natural Science Foundation of China (grant number: 31025014); 973 Basic Research Program (grant number: 2011CBA01102); scholarships from Merck and Johnson and Johnson. 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PD JAN PY 2012 VL 40 IS D1 BP D1016 EP D1022 DI 10.1093/nar/gkr1145 PG 7 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA 869MD UT WOS:000298601300152 PM 22139918 ER PT J AU Zhang, LY Chang, SH Li, Z Zhang, KL Du, Y Ott, J Wang, J AF Zhang, Liuyan Chang, Suhua Li, Zhao Zhang, Kunlin Du, Yang Ott, Jurg Wang, Jing TI ADHDgene: a genetic database for attention deficit hyperactivity disorder SO NUCLEIC ACIDS RESEARCH LA English DT Article ID GENOME-WIDE ASSOCIATION; SET ENRICHMENT ANALYSIS; DEFICIT/HYPERACTIVITY DISORDER; MOLECULAR-GENETICS; CANDIDATE GENE; LINKAGE; SCHIZOPHRENIA; TRAITS; AUTISM; SCAN AB With a worldwide prevalence of similar to 5%, attention deficit hyperactivity disorder (ADHD) has become one of the most common psychiatric disorders. The polygenetic nature of ADHD indicates that multiple genes jointly contribute to the development of this complex disease. Studies aiming to explore genetic susceptibility of ADHD have been increasing in recent years. There is a growing need to integrate the genetic data from various genetic studies to provide a comprehensive data set and uniform access for convenience of in-depth data mining. So far, there has been no such effort for ADHD. To address the genetic complexity of ADHD, we developed the ADHDgene database by integrating ADHD-related genetic factors by profound literature reading. Based on the data from the literature, extended functional analysis, including linkage disequilibrium analysis, pathway-based analysis and gene mapping were performed to provide new insights into genetic causes of ADHD. Moreover, powerful search tools and a graphical browser were developed to facilitate the navigation of the data and data connections. As the first genetic database for ADHD, ADHDgene aims to provide researchers with a central genetic resource and analysis platform for ADHD and is freely available at http://adhd.psych.ac.cn/. C1 [Zhang, Liuyan; Chang, Suhua; Li, Zhao; Zhang, Kunlin; Du, Yang; Ott, Jurg; Wang, Jing] Chinese Acad Sci, Inst Psychol, Key Lab Mental Hlth, Beijing 100101, Peoples R China. [Zhang, Liuyan; Chang, Suhua; Li, Zhao; Du, Yang] Chinese Acad Sci, Grad Univ, Beijing 100049, Peoples R China. RP Wang, J (reprint author), Chinese Acad Sci, Inst Psychol, Key Lab Mental Hlth, Beijing 100101, Peoples R China. EM wangjing@psych.ac.cn FU Chinese Academy of Sciences [KSCX2-EW-J-8]; National Natural Science Foundation of China [81101545] FX Knowledge Innovation Program of the Chinese Academy of Sciences (KSCX2-EW-J-8); National Natural Science Foundation of China (81101545). Funding for open access charge: Knowledge Innovation Program of the Chinese Academy of Sciences (KSCX2-EW-J-8). The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors. 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TI Loss of White Matter Microstructural Integrity Is Associated with Adverse Neurological Outcome in Tuberous Sclerosis Complex SO ACADEMIC RADIOLOGY LA English DT Article DE Tuberous sclerosis complex; diffusion tensor imaging; corpus callosum; autism spectrum disorders; normal appearing white matter ID IN-DIFFUSION MRI; FIBER ORIENTATION; CORPUS-CALLOSUM; AUTISM; TRACTOGRAPHY; SPECTRUM; BRAIN; CHILDREN; TRACTS; RECONSTRUCTION AB Rationale and Objectives: Tuberous sclerosis complex (TSC) is a genetic neurocutaneous syndrome in which cognitive and social-behavioral outcomes for patients vary widely in an unpredictable manner. The cause of adverse neurologic outcome remains unclear. The aim of this study was to investigate the hypothesis that disordered white matter and abnormal neural connectivity are associated with adverse neurologic outcomes. Materials and Methods: Structural and diffusion magnetic resonance imaging was carried out in 40 subjects with TSC (age range, 0.5-25 years; mean age, 7.2 years; median age, 5 years), 12 of whom had autism spectrum disorders (ASD), and in 29 age-matched controls. Tractography of the corpus callosum was used to define a three-dimensional volume of interest. Regional averages of four diffusion scalar parameters of the callosal projections were calculated for each subject. These were the average fractional anisotropy (AFA) and the average mean, radial, and axial diffusivity. Results: Subjects with TSC had significantly lower AFA and higher average mean, radial, and axial diffusivity values compared to controls. Subjects with TSC and ASD had significantly lower AFA values compared to those without ASD and compared to controls. Subjects with TSC without ASD had similar AFA values compared to controls. Conclusion: Diffusion tensor scalar parameters provided measures of properties of the three-dimensional callosal projections. In TSC, changes in these parameters may reflect microstructural changes in myelination, axonal integrity, or extracellular environment. Alterations in white matter microstructural properties were associated with TSC, and larger changes were associated with TSC and ASD, thus establishing a relationship between altered white matter microstructural integrity and brain function. C1 [Peters, Jurriaan M.; Prabhu, Sanjay P.; Scherrer, Benoit; Warfield, Simon K.] Childrens Hosp, Dept Radiol, Computat Radiol Lab, Boston, MA 02115 USA. [Peters, Jurriaan M.; Sahin, Mustafa; Gregas, Matthew C.] Childrens Hosp, Dept Neurol, Boston, MA 02115 USA. [Vogel-Farley, Vanessa K.; Nelson, Charles A., III] Childrens Hosp, Labs Cognit Neurosci, Boston, MA 02115 USA. [Gregas, Matthew C.] Childrens Hosp, Clin Res Program, Boston, MA 02115 USA. Harvard Univ, Sch Med, Boston, MA 02115 USA. [Jeste, Shafali S.] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Semel Inst, Los Angeles, CA USA. RP Warfield, SK (reprint author), Childrens Hosp, Dept Radiol, Computat Radiol Lab, 300 Longwood Ave, Boston, MA 02115 USA. EM mustafa.sahin@childrens.harvard.edu; simon.warfield@childrens.harvard.edu RI Prabhu, Sanjay/A-9947-2013 OI Prabhu, Sanjay/0000-0003-0871-115X FU National Institutes of Health [P50 MH064065, R01 RR021885, R01 LM010033, R03 EB008680, UL1 RR025758]; John Merck Fund; Children's Hospital Boston; National Institutes of Health (Bethesda, MD) [R01 DC010290] FX Thanks go to Sarah Spence, MD, PhD for critical reading of the manuscript. We gratefully acknowledge the contribution of MRI scans from John Gilmore and Martin Styner, supported by grant P50 MH064065 from the National Institutes of Health. We are indebted to the children and families who have participated in this study.Dr Sahin is supported in part by the John Merck Fund and a Junior Investigator Award from the Children's Hospital Boston Translational Research Program. Dr Nelson is supported by grant R01 DC010290 from the National Institutes of Health (Bethesda, MD). This investigation was supported in part by grants R01 RR021885, R01 LM010033, R03 EB008680, and UL1 RR025758 from the National Institutes of Health. 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Radiol. PD JAN PY 2012 VL 19 IS 1 BP 17 EP 25 DI 10.1016/j.acra.2011.08.016 PG 9 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA 868GE UT WOS:000298510900004 PM 22142677 ER PT J AU Bae, JS Jung, MH Lee, BC Cheong, HS Park, BL Kim, LH Kim, JH Pasaje, CFA Lee, JS Jung, KH Chai, YG Shin, HD Choi, IG AF Bae, Joon Seol Jung, Myung Hun Lee, Boung Chul Cheong, Hyun Sub Park, Byung Lae Kim, Lyoung Hyo Kim, Jeong-Hyun Pasaje, Charisse Flerida A. Lee, Jin Sol Jung, Kyoung Hwa Chai, Young Gyu Shin, Hyoung Doo Choi, Ihn-Geun TI The Genetic Effect of Copy Number Variations on the Risk of Alcoholism in a Korean Population SO ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH LA English DT Article DE Alcoholism; Copy Number Variation; Genome-Wide Association Analysis; Genomics; Genetic Epidemiology ID GENOME-WIDE ASSOCIATION; DEPENDENCE; VARIANTS; RECEPTOR; COMMON; IDENTIFICATION; POLYMORPHISMS; ONTOLOGIES; AUTISM AB Background: Alcoholism, a chronic behavioral disorder characterized by excessive alcohol consumption, has been a leading cause of morbidity and premature death. This condition is believed to be influenced by genetic factors. As copy number variation (CNV) has been recently discovered in human genome, genomic diversity of human genome is more frequent than previously thought. Many studies have reported evidences that CNV is associated with the development of complex diseases. In this study, we hypothesized that CNV can predict the risk of alcoholism. Methods: Using the Illumina HumanHap660W-Quad BeadChip (similar to 660 k markers), genome-wide genotyping was performed to obtain signal and allelic intensities from 116 alcoholic cases and 1,022 healthy controls (total n = 1,138) in a Korean population. To identify alcoholism-associated CNV regions, we performed a genome-wide association analysis, using multivariate logistic regression model controlling for age and gender. Results: We identified a total of 255,732 individual CNVs and 3,261 CNV regions (1,067 common CNV regions, frequency > 1%) in this study. Results from multivariate logistic regression showed that the chr20:61195302-61195978 regions were significantly associated with the risk of alcoholism after multiple corrections (p = 5.02E) 05, p(corr) = 0.04). Most of the identified variations in this study overlapped with the previously reported CNVs in the Database of Genomic Variants (95.3%). The identified CNVs, which encompassed 3,226 functional genes, were significantly enriched in the cellular part, in the membrane-bound organelle, in the cell part, in developmental processes, in cell communication, in neurological system process, in sensory perception of smell and chemical stimulus, and in olfactory receptor activity. Conclusions: This is the first genome-wide association study to investigate the relationship between common CNV and alcoholism. Our results suggest that the newly identified CNV regions may contribute to the development of alcoholism. C1 [Jung, Myung Hun; Lee, Boung Chul; Choi, Ihn-Geun] Hallym Univ, Hangang Sacred Heart Hosp, Dept Neuropsychiat, Seoul, South Korea. [Bae, Joon Seol; Kim, Jeong-Hyun; Pasaje, Charisse Flerida A.; Lee, Jin Sol; Shin, Hyoung Doo] Sogang Univ, Dept Life Sci, Lab Genom Divers, Seoul 121742, South Korea. 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[Kneitel, Anna; Smith, Lloyd; Walker, Cheryl] Univ Calif Davis, Sacramento, CA 95817 USA. [Xing, Guibo] UC Davis Med Ctr, Ctr Healthcare Policy & Res, Sacramento, CA USA. [Gilbert, William] Sutter Med Ctr Sacramento, Dept Obstet & Gynecol, Sacramento, CA USA. NR 0 TC 0 Z9 0 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0002-9378 J9 AM J OBSTET GYNECOL JI Am. J. Obstet. Gynecol. PD JAN PY 2012 VL 206 IS 1 SU S MA 42 BP S27 EP S27 PG 1 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA 873NL UT WOS:000298889900043 ER PT J AU Logan, SL Nicholas, JS Carpenter, LA King, LB Garrett-Mayer, E Charles, JM AF Logan, Sarah L. Nicholas, Joyce S. Carpenter, Laura A. King, Lydia B. Garrett-Mayer, Elizabeth Charles, Jane M. TI High Prescription Drug Use and Associated Costs among Medicaid-Eligible Children with Autism Spectrum Disorders Identified by a Population-Based Surveillance Network SO ANNALS OF EPIDEMIOLOGY LA English DT Article DE Autism; Medicaid; Psychotropic Medication; Public Health Surveillance ID PERVASIVE DEVELOPMENTAL DISORDERS; PATTERNS; PREVALENCE; ADOLESCENTS; DIAGNOSIS; CARE AB PURPOSE: We assessed medication use and associated costs among 8- and 15-year-old children with autism spectrum disorders (ASD) identified by the South Carolina Autism and Developmental Disabilities Monitoring (SCADDM) Network. METHODS: All Medicaid-eligible SCADDM-identified children with ASD from surveillance years 2006 and 2007 were included (n = 263). Children were classified as ASD cases when documented behaviors consistent with the DSM-IV-TR criteria for autistic disorder, Asperger disorder, or pervasive developmental disorder not otherwise specified were present in health and education evaluation records. Medication and cost data were obtained by linking population-based and Medicaid data. RESULTS: All 263 SCADDM-identified children had Medicaid data available; 56% (n = 147) had a prescription of any type, 40% (n = 105) used psychotropic medication, and 20% (n = 52) used multiple psychotropic classes during the study period. Common combinations were (1) attention deficit hyperactivity disorder medications and an antihypertensive, antidepressant or antipsychotic; and (2) antidepressants and an antipsychotic. Multiple psychotropic classes were more common among older children. Both the overall distribution of the number of prescription claims and medication costs varied significantly by age. 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PD JAN PY 2012 VL 33 IS 1 BP 1 EP 22 DI 10.1017/S0142716411000385 PG 22 WC Linguistics; Psychology, Experimental SC Linguistics; Psychology GA 872ZB UT WOS:000298848900001 ER PT J AU Lundstrom, S Chang, Z Rastam, M Gillberg, C Larsson, H Anckarsater, H Lichtenstein, P AF Lundstrom, Sebastian Chang, Zheng Rastam, Maria Gillberg, Christopher Larsson, Henrik Anckarsater, Henrik Lichtenstein, Paul TI Autism Spectrum Disorders and Autisticlike Traits Similar Etiology in the Extreme End and the Normal Variation SO ARCHIVES OF GENERAL PSYCHIATRY LA English DT Article ID MULTIPLE-REGRESSION ANALYSIS; TWIN DATA; NEUROPSYCHIATRIC DISORDERS; INDIVIDUAL-DIFFERENCES; GENERAL-POPULATION; ASPERGER-SYNDROME; INFANTILE-AUTISM; FAMILY HISTORY; PATERNAL AGE; RISK-FACTORS AB Context: Autism spectrum disorders (ASDs) have been suggested to represent the extreme end of a normal distribution of autisticlike traits (ALTs). However, the evidence of this notion is inconclusive. Objective: To study whether there are similar genetic and/or environmental etiologies behind ASDs and ALTs. Design: A nationwide twin study. Participants: Consenting parents of all Swedish twins aged 9 and 12 years, born between July 1, 1992, and December 31, 2001 (n=19 208), were interviewed by telephone to screen for child psychiatric conditions, including ASDs. Main Outcome Measures: Two validated cutoffs for ASDs, 2 cutoffs encompassing the normal variation, and 1 continuous measure of ALTs were used with DeFries-Fulker extreme-end analyses and standard twin study methods. Results: We discerned a strong correlation between the 4 cutoffs and the full variation of ALTs. The correlation was primarily affected by genes. We also found that the heritability for the 4 cutoffs was similar. Conclusion: We demonstrate an etiological similarity between ASDs and ALTs in the normal variation and, with results from previous studies, our data suggest that ASDs and ALTs are etiologically linked. C1 [Lundstrom, Sebastian; Anckarsater, Henrik] Lund Univ, Dept Clin Sci, Malmo, Sweden. [Chang, Zheng; Larsson, Henrik; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. [Rastam, Maria] Lund Univ, Dept Clin Sci Child & Adolescent Psychiat, Lund, Sweden. [Gillberg, Christopher] Univ Gothenburg, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden. [Lundstrom, Sebastian] Swedish Prison & Probat Serv, Res & Dev Unit, Gothenburg, Sweden. RP Lundstrom, S (reprint author), Lund Univ, Dept Clin Sci, Lillhagsparken 3, S-42250 Hisings Backa, Sweden. EM sebastian.lundstrom@neuro.gu.se FU Swedish Council for Working Life; Research Council of the Swedish National Alcohol Monopoly; Swedish Research Council FX The CATSS study was supported by the Swedish Council for Working Life, the Research Council of the Swedish National Alcohol Monopoly, funds under the Agreement on Medical Training and Research agreement, and the Swedish Research Council. 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Gen. Psychiatry PD JAN PY 2012 VL 69 IS 1 BP 46 EP 52 PG 7 WC Psychiatry SC Psychiatry GA 870NH UT WOS:000298675700006 PM 22213788 ER PT J AU Nordahl, CW Scholz, R Yang, XW Buonocore, MH Simon, T Rogers, S Amaral, DG AF Nordahl, Christine Wu Scholz, Robert Yang, Xiaowei Buonocore, Michael H. Simon, Tony Rogers, Sally Amaral, David G. TI Increased Rate of Amygdala Growth in Children Aged 2 to 4 Years With Autism Spectrum Disorders A Longitudinal Study SO ARCHIVES OF GENERAL PSYCHIATRY LA English DT Article ID DIAGNOSTIC OBSERVATION SCHEDULE; PTEN MUTATIONS; YOUNG-CHILDREN; CORTICAL GRAY; MRI DATA; BRAIN; NEUROANATOMY; INDIVIDUALS; ADOLESCENTS; HIPPOCAMPUS AB Context: Precocious amygdala enlargement is commonly observed in young children with autism. However, the age at which abnormal amygdala enlargement begins and the relative growth trajectories of the amygdala and total brain remain unclear. Objective: To determine whether the rate of amygdala growth is abnormal and disproportionate to total brain growth in very young children with autism spectrum disorders (ASDs). Design: Longitudinal structural magnetic resonance imaging study. Setting: Neuroimaging and diagnostic assessments were performed at an academic medical center. Participants were recruited from the community. Participants: Baseline scans were acquired in 132 boys (85 with ASD and 47 control subjects with typical development [TD]; mean age, 37 months). Longitudinal magnetic resonance images were acquired in 70 participants (45 with ASD and 25 TD controls) 1 year later. Main Outcome Measure: Amygdala volumes and total cerebral volumes (TCVs) were evaluated at both time points, and 1-year growth rates were calculated. Results: The amygdala was larger in children with ASD at both time points, but the magnitude of enlargement was greater at time 2. The TCV was also enlarged in the children with ASD by the same magnitude at both time points. When we controlled for TCV, amygdala enlargement remained significant at both time points. The rate of amygdala growth during this 1-year interval was faster in children with ASD than in TD controls. The rate of TCV growth did not differ between groups. Post hoc exploratory analyses revealed 3 patterns of amygdala and TCV growth rates in the ASD group. Conclusions: Disproportionate amygdala enlargement is present by 37 months of age in ASD. The amygdala continues to grow at an increased rate, but substantial heterogeneity exists in amygdala and TCV growth patterns. Future studies aimed at clinical characterization of different growth patterns could have implications for choice and outcomes of treatment and behavioral therapy. C1 [Nordahl, Christine Wu; Scholz, Robert; Simon, Tony; Rogers, Sally; Amaral, David G.] Univ Calif Davis, Sch Med, MIND Inst, Sacramento, CA 95817 USA. [Nordahl, Christine Wu; Scholz, Robert; Simon, Tony; Rogers, Sally; Amaral, David G.] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA. [Yang, Xiaowei] Univ Calif Davis, Sch Med, Dept Publ Hlth, Sacramento, CA 95817 USA. [Buonocore, Michael H.] Univ Calif Davis, Sch Med, Dept Radiol, Sacramento, CA 95817 USA. RP Amaral, DG (reprint author), Univ Calif Davis, Sch Med, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA. EM dgamaral@ucdavis.edu FU National Institute of Mental Health [1R01MH089626, U24MH081810, 1K99MH085099]; UCD MIND Institute FX This study was supported by grants 1R01MH089626, U24MH081810, and 1K99MH085099 from the National Institute of Mental Health and the UCD MIND Institute. 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Gen. Psychiatry PD JAN PY 2012 VL 69 IS 1 BP 53 EP 61 PG 9 WC Psychiatry SC Psychiatry GA 870NH UT WOS:000298675700007 PM 22213789 ER PT J AU Mandell, DS Xie, M Morales, KH Lawer, L McCarthy, M Marcus, SC AF Mandell, David S. Xie, Ming Morales, Knashawn H. Lawer, Lindsay McCarthy, Megan Marcus, Steven C. TI The Interplay of Outpatient Services and Psychiatric Hospitalization Among Medicaid-Enrolled Children With Autism Spectrum Disorders SO ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE LA English DT Article ID RANDOMIZED CONTROLLED-TRIAL; EARLY INTERVENTION; COST-EFFECTIVENESS; CASE-MANAGEMENT; MENTAL-HEALTH; LONG-TERM; SEVERE DISABILITIES; FOLLOW-UP; CARE; ILLNESS AB Objective: To examine whether increased provision of community-based services is associated with decreased psychiatric hospitalizations among children with autism spectrum disorders (ASDs). Design: Retrospective cohort study using discrete-time logistic regression to examine the association of service use in the preceding 60 days with the risk of hospitalization. Setting: The Medicaid-reimbursed health care system in the continental United States. Participants: Medicaid-enrolled children with an ASD diagnosis in 2004 (N=28 428). Main Exposures: Use of respite care and therapeutic services, based on procedure codes. Main Outcome Measures: Hospitalizations associated with a diagnosis of ASD (International Classification of Diseases, 10th Revision, codes 299.0, 299.8, and 299.9). Results: Each $1000 increase in spending on respite care during the preceding 60 days resulted in an 8% decrease in the odds of hospitalization in adjusted analysis. Use of therapeutic services was not associated with reduced risk of hospitalization. Conclusions: Respite care is not universally available through Medicaid. It may represent a critical type of service for supporting families in addressing challenging child behaviors. States should increase the availability of respite care for Medicaid-enrolled children with ASDs. The lack of association between therapeutic services and hospitalization raises concerns regarding the effectiveness of these services. C1 [Mandell, David S.; Xie, Ming; Morales, Knashawn H.; Lawer, Lindsay; McCarthy, Megan] Univ Penn, Perelman Sch Med, Ctr Mental Hlth Policy & Serv Res, Philadelphia, PA 19104 USA. [Morales, Knashawn H.] Univ Penn, Perelman Sch Med, Dept Clin Epidemiol & Biostat, Philadelphia, PA 19104 USA. [Marcus, Steven C.] Univ Penn, Sch Social Policy & Practice, Philadelphia, PA 19104 USA. [Mandell, David S.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA. RP Mandell, DS (reprint author), Univ Penn, Perelman Sch Med, Ctr Mental Hlth Policy & Serv Res, 3535 Market St,3rd Floor, Philadelphia, PA 19104 USA. 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PD JAN PY 2012 VL 166 IS 1 BP 68 EP 73 PG 6 WC Pediatrics SC Pediatrics GA 871KH UT WOS:000298736500009 PM 22213753 ER PT J AU Batista, IC Gandolfi, L Nobrega, YKM Almeida, RC Almeida, LM Campos, D Pratesi, R AF Batista, Icaro Camargo Gandolfi, Lenora Medeiros Nobrega, Yanna Karla Almeida, Rodrigo Coutinho Almeida, Lucas Malta Campos Junior, Dioclecio Pratesi, Riccardo TI Autism spectrum disorder and celiac disease: no evidence for a link SO ARQUIVOS DE NEURO-PSIQUIATRIA LA English DT Article DE autistic spectrum disorder; celiac disease; prevalence; mass screening ID ADULT COELIAC DISEASE; GASTROINTESTINAL DISORDERS; NEUROLOGICAL DISORDERS; GLUTEN SENSITIVITY; HIGH PREVALENCE; CHILDREN; POPULATION; DIAGNOSIS; SYMPTOMS; BRAZIL AB Objective: To evaluate the possible association between celiac disease (CD) and/or gluten sensitivity (GS) and autism spectrum disorder (ASD). Methods: Occurrences of CD were determined in a group of children and adolescents affected by ASD and, conversely, occurrences of ASD were assessed in a group of biopsy-proven celiac patients. To detect the possible existence of GS, the levels of antigliadin antibodies in ASD patients were assessed and compared with the levels in a group of non-celiac children. Results: The prevalence of CD or GS in ASD patients was not greater than in groups originating from the same geographical area. Similarly the prevalence of ASD was not greater than in a group of biopsy-proven CD patients. Conclusion: No statistically demonstrable association was found between CD or GS and ASD. Consequently, routine screening for CD or GS in all patients with ASD is, at this moment, neither justified nor cost-effective. C1 [Batista, Icaro Camargo; Campos Junior, Dioclecio] Univ Brasilia, Sch Hlth Sci, Grad Program Hlth Sci, Brasilia, DF, Brazil. [Gandolfi, Lenora; Pratesi, Riccardo] Univ Brasilia, Sch Med, Grad Program Hlth Sci, Dept Pediat,Celiac Dis Res Ctr, Brasilia, DF, Brazil. [Medeiros Nobrega, Yanna Karla] Univ Brasilia, Sch Hlth Sci, Dept Pharmaceut Sci, Celiac Dis Res Ctr, Brasilia, DF, Brazil. [Almeida, Rodrigo Coutinho] Univ Brasilia, Sch Med, Sch Hlth Sci, Grad Program Hlth Sci,Celiac Dis Res Ctr, Brasilia, DF, Brazil. RP Pratesi, R (reprint author), SQN 212,Bloco F,Apt 605, BR-70864060 Brasilia, DF, Brazil. 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Neuro-Psiquiatr. PD JAN PY 2012 VL 70 IS 1 BP 28 EP 33 PG 6 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 873LZ UT WOS:000298886100007 PM 22218470 ER PT J AU Theoharides, TC Angelidou, A Alysandratos, KD Zhang, BD Asadi, S Francis, K Toniato, E Kalogeromitros, D AF Theoharides, Theoharis C. Angelidou, Asimenia Alysandratos, Konstantinos-Dionysios Zhang, Bodi Asadi, Shahrzad Francis, Konstantinos Toniato, Elena Kalogeromitros, Dimitrios TI Mast cell activation and autism SO BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE LA English DT Review DE Allergy; Autism; Brain; Inflammation; Mast cells; Stress ID CORTICOTROPIN-RELEASING-HORMONE; BLOOD-BRAIN-BARRIER; REMITTING MULTIPLE-SCLEROSIS; SPECTRUM DISORDERS; IN-VITRO; NEUROTENSIN RECEPTORS; CEREBROSPINAL-FLUID; CHILDHOOD AUTISM; INTERFERON-GAMMA; IMMUNE-RESPONSE AB Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by varying degrees of dysfunctional communication and social interactions, repetitive and stereotypic behaviors, as well as learning and sensory deficits. Despite the impressive rise in the prevalence of autism during the last two decades, there are few if any clues for its pathogenesis, early detection or treatment. Increasing evidence indicates high brain expression of pro-inflammatory cytokines and the presence of circulating antibodies against brain proteins. A number of papers, mostly based on parental reporting on their children's health problems, suggest that ASD children may present with "allergic-like" problems in the absence of elevated serum IgE and chronic urticaria. These findings suggest non-allergic mast cell activation, probably in response to environmental and stress triggers that could contribute to inflammation. In utero inflammation can lead to preterm labor and has itself been strongly associated with adverse neurodevelopmental outcomes. Premature babies have about four times higher risk of developing ASD and are also more vulnerable to infections, while delayed development of their gut-blood-brain barriers makes exposure to potential neurotoxins likely. Perinatal mast cell activation by infectious, stress-related, environmental or allergic triggers can lead to release of pro-inflammatory and neurotoxic molecules, thus contributing to brain inflammation and ASD pathogenesis, at least in a subgroup of ASD patients. This article is part of a Special Issue entitled: Mast cells in inflammation. (C) 2010 Published by Elsevier B.V. C1 [Theoharides, Theoharis C.; Angelidou, Asimenia; Alysandratos, Konstantinos-Dionysios; Zhang, Bodi; Asadi, Shahrzad] Tufts Univ, Sch Med, Dept Pharmacol & Expt Therapeut, Mol Immunopharmacol & Drug Discovery Lab, Boston, MA 02111 USA. [Theoharides, Theoharis C.; Zhang, Bodi] Tufts Univ, Sch Med, Dept Biochem, Boston, MA 02111 USA. [Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Internal Med, Boston, MA 02111 USA. [Theoharides, Theoharis C.] Tufts Med Ctr, Boston, MA 02111 USA. [Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA. [Theoharides, Theoharis C.; Angelidou, Asimenia; Alysandratos, Konstantinos-Dionysios; Kalogeromitros, Dimitrios] Univ Athens, Sch Med, Attikon Gen Hosp, Allergy Clin Res Ctr,Allergy Sect, Athens 12462, Greece. [Francis, Konstantinos] Univ Athens, Sch Med, Attikon Gen Hosp, Child Psychiat Sect,Dept Psychiat 2, Athens 12462, Greece. [Toniato, Elena] Chieti Med Ctr, Dept Expt Med & Oncol, I-67100 Chieti, Italy. RP Theoharides, TC (reprint author), Tufts Univ, Sch Med, Dept Pharmacol & Expt Therapeut, Mol Immunopharmacol & Drug Discovery Lab, 136 Harrison Ave, Boston, MA 02111 USA. EM theoharis.theoharides@tufts.edu; Asimenia.Angelidou@tufts.edu; Konstantinos-Dionysios.Alysandratos@tufts.edu; Bodizhang@post.harvard.edu; Shahrzad.Asadi@tufts.edu; cfrancis@otenet.gr; e.toniato@unich.it; dicrikal@yahoo.gr FU National Autism Association; Autism Research Collaborative; Theta Biomedical Consulting and Development Co., Inc. (Brookline, MA); Hellenic State Scholarships Foundation (Athens, Greece); Galenica, SA (Athens, Greece) FX Aspects of research mentioned here were funded by the National Autism Association, the Autism Research Collaborative, as well as Theta Biomedical Consulting and Development Co., Inc. (Brookline, MA). We thank the parents of the two cases presented for making the photos available and extending permission to use them in this manuscript Asimenia Angelidou and Konstantinos-Dionysios Alysandratos are recipients of scholarships for postgraduate studies from the Hellenic State Scholarships Foundation (Athens, Greece). Bodi Zhang is partially supported by a graduate fellowship from Galenica, SA (Athens, Greece). 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Biophys. Acta-Mol. Basis Dis. PD JAN PY 2012 VL 1822 IS 1 SI SI BP 34 EP 41 DI 10.1016/j.bbadis.2010.12.017 PG 8 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA 867NP UT WOS:000298461400006 PM 21193035 ER PT J AU Zirn, B Arning, L Bartels, I Shoukier, M Hoffjan, S Neubauer, B Hahn, A AF Zirn, B. Arning, L. Bartels, I. Shoukier, M. Hoffjan, S. Neubauer, B. Hahn, A. TI Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma SO CLINICAL GENETICS LA English DT Article DE meningioma; neurofibromatosis type II; NF2 gene; ring chromosome 22; tumourigenesis; two-hit model ID SCAFFOLDING PROTEIN SHANK3; MUTATIONS; PATIENT; AUTISM AB Carriers of a ring chromosome 22 are mentally retarded and show variable facial dysmorphism. They may also present with features of neurofibromatosis type II (NF2) such as vestibular schwannomas and multiple meningiomas. In these cases, tumourigenesis has been suspected to be caused by the loss of both alleles of the NF2 gene, a tumour suppressor localized in 22q12.2. Here, we describe an 18-year-old patient with constitutional ring chromosome 22 and mental retardation who developed rapid-onset spastic paraparesis at the age of 15 years. The causative spinal meningioma at the level of T3, which compressed the spinal cord, was surgically removed, and the patient regained ambulation. Array comparative genomic hybridization (array CGH) and multiplex ligation-dependent probe amplification (MLPA) analyses in blood revealed a terminal deletion in 22q13.32, not comprising the NF2 gene. In tumour tissue, loss of the whole ring chromosome 22 including one NF2 gene due to mitotic instability constituted the likely first hit, while a point mutation in the other allele of the NF2 gene (c.784C>T, p.R262X) was shown as second hit. We review all cases from the literature and suggest clinical guidelines for surveillance of patients with ring chromosome 22. C1 [Zirn, B.] Univ Goettingen, Dept Neuropediat, D-37075 Gottingen, Germany. [Arning, L.; Hoffjan, S.] Ruhr Univ Bochum, Inst Human Genet, Bochum, Germany. [Bartels, I.; Shoukier, M.] Univ Goettingen, Inst Human Genet, D-37075 Gottingen, Germany. [Neubauer, B.; Hahn, A.] Univ Giessen, Dept Neuropediat, D-35390 Giessen, Germany. RP Zirn, B (reprint author), Univ Goettingen, Dept Neuropediat, Robert Koch Str 40, D-37075 Gottingen, Germany. 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Genet. PD JAN PY 2012 VL 81 IS 1 BP 82 EP 87 DI 10.1111/j.1399-0004.2010.01598.x PG 6 WC Genetics & Heredity SC Genetics & Heredity GA 860CP UT WOS:000297925600012 PM 21175598 ER PT J AU Markoulakis, R Fletcher, P Bryden, P AF Markoulakis, Roula Fletcher, Paula Bryden, Pamela TI Seeing the Glass Half Full Benefits to the Lived Experiences of Female Primary Caregivers of Children With Autism SO CLINICAL NURSE SPECIALIST LA English DT Article DE autistic disorder; caregivers; qualitative research ID HIGH-FUNCTIONING AUTISM; SCHOOL-AGE-CHILDREN; BEHAVIORAL INTERVENTION; COPING STRATEGIES; PARENTS; FAMILIES; STRESS; MOTHERS AB Purpose: Autism spectrum disorders are the most common developmental disorders, affecting 1 in 165 Canadian children. Although the experiences of the caregivers of children with autism have been examined to some extent, a thorough investigation of the benefits of this experience is warranted. Methods: The lived experiences of 8 married female primary caregivers of children with autism were assessed through a phenomenological study involving background questionnaires and one-on-one, semistructured interviews. All recruited participants completed the study. Results: Benefits were found in all areas of questioning, including financial, social, familial, health, and employment implications, in addition to benefits arising from activities and involvements taken on as a result of raising a child with autism. The findings shed light on an unconventional aspect of the effects of raising a child with autism. Conclusions: Costs to these women's experiences were not predominant, and benefits arising from the caregiving role lead to positive accounts of their lived experiences. Results have broader implications for the understanding of the primary caregiver situation and the improvement of interactions with individuals with these lived experiences. 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Mors, Ole TI A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article DE panic disorder; genome-wide scan; isolated population; association analysis; ACCN1 ID BIPOLAR AFFECTIVE-DISORDER; FAROE-ISLANDS; ISOLATED POPULATION; ANXIETY DISORDERS; ASSOCIATION; SCHIZOPHRENIA; SUSCEPTIBILITY; DISEASE; AUTISM; EPIDEMIOLOGY AB Panic disorder (PD) is a mental disorder with recurrent panic attacks that occur spontaneously and are not associated to any particular object or situation. There is no consensus on what causes PD. However, it is recognized that PD is influenced by environmental factors, as well as genetic factors. Despite a significant hereditary component, genetic studies have only been modestly successful in identifying genes of importance for the development of PD. In this study, we conducted a genome-wide scan using microsatellite markers and PD patients and control individuals from the isolated population of the Faroe Islands. Subsequently, we conducted a fine mapping, which revealed the amiloride-sensitive cation channel 1 (ACCN1) located on chromosome 17q11.2-q12 as a potential candidate gene for PD. The further analyses of the ACCN1 gene using single-nucleotide polymorphisms (SNPs) revealed significant association with PD in an extended Faroese case-control sample. However, analyses of a larger independent Danish case-control sample yielded no substantial significant association. This suggests that the possible risk alleles associated in the isolated population are not those involved in the development of PD in a larger outbred population. European Journal of Human Genetics (2012) 20, 84-90; doi:10.1038/ejhg.2011.148; published online 3 August 2011 C1 [Gregersen, Noomi; Buttenschon, Henriette N.; Als, Thomas D.; Kristensen, Ann S.; Borglum, Anders D.; Mors, Ole] Aarhus Univ Hosp, Ctr Psychiat Res, DK-8000 Aarhus, Denmark. [Gregersen, Noomi; Nyegaard, Mette; Hedemand, Anne; Borglum, Anders D.] Aarhus Univ, Dept Human Genet, Aarhus, Denmark. [Dahl, Hans A.] Amplexa Genet AS, Odense, Denmark. [Dahl, Hans A.; Kruse, Torben A.] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark. [Nyegaard, Mette] Aarhus Univ Hosp, Aalborg Hosp Sci & Innovat Ctr AHSIC, Dept Haematol, Aalborg, Denmark. [Als, Thomas D.] Tech Univ Denmark, Natl Inst Aquat Resources, DK-2800 Lyngby, Denmark. [Wang, August G.] Copenhagen Univ Hosp, HS Amager Hosp, Dept Psychiat, Copenhagen, Denmark. [Joensen, Sofus] Natl Hosp, Dept Psychiat, Torshavn, Faroe Islands, Denmark. [Woldbye, David P. D.; Koefoed, Pernille] Univ Copenhagen, Rigshosp, Psychiat Ctr Copenhagen, Lab Neuropsychiat, DK-2100 Copenhagen, Denmark. [Woldbye, David P. D.; Koefoed, Pernille] Univ Copenhagen, Dept Neurosci & Pharmacol, Copenhagen, Denmark. RP Gregersen, N (reprint author), Aarhus Univ Hosp, Ctr Psychiat Res, Skovagervej 2, DK-8240 Risskov, Denmark. EM noomigregersen@mac.com RI Nyegaard, Mette/G-4443-2012 FU Lundbeck Foundation; Faeroske Forskningsrad; Ivan Nielsen Foundation; Forskningsfond til Stotte af Psykiatrisk Forskning i Region Midtjylland FX This study was supported by grants from the Lundbeck Foundation, the 'Faeroske Forskningsrad', the Ivan Nielsen Foundation and the 'Forskningsfond til Stotte af Psykiatrisk Forskning i Region Midtjylland'. Furthermore, we would like to thank the Genetic Biobank of the Faroe Islands for the Faroese sample. 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J. Hum. Genet. PD JAN PY 2012 VL 20 IS 1 BP 84 EP 90 DI 10.1038/ejhg.2011.148 PG 7 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 863MF UT WOS:000298167700017 PM 21811305 ER PT J AU Herguner, S Kelesoglu, FM Tanidir, C Copur, M AF Herguner, Sabri Kelesoglu, Fatih Mehmet Tanidir, Cansaran Copur, Mazlum TI Ferritin and iron levels in children with autistic disorder SO EUROPEAN JOURNAL OF PEDIATRICS LA English DT Article DE Autism; Children; Ferritin; Iron deficiency; Anemia ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SPECTRUM DISORDERS; TOURETTES-SYNDROME; DEFICIENCY; ASSOCIATION; PREVALENCE; BRAIN AB Iron has an important role on cognitive, behavioral, and motor development. High prevalence of iron deficiency has been reported in autism. The aim of this study was to investigate iron status in a group of children with autistic disorder. The sample was composed of 116 children between 3 and 16 years with a diagnosis of autistic disorder according to DSM-IV criteria. Serum ferritin, iron, hemoglobin, hematocrit, mean corpuscular volume, and red cell distribution width values were measured. We found that 24.1% of subjects had iron deficiency, and 15.5% had anemia. There was a significant positive correlation between age and ferritin and hematological measures. Results of this study confirmed that iron deficiency and anemia are common in children with autistic disorder. Conclusion: These findings suggest that ferritin levels should be measured in subjects with autism as a part of routine investigation. C1 [Herguner, Sabri] Cocuk Ergen Psikiyatrisi AD, Meram Tip Fak, Konya, Turkey. [Herguner, Sabri] Selcuk Univ, Meram Fac Med, Dept Child & Adolescent Psychiat, Konya, Turkey. [Herguner, Sabri; Copur, Mazlum] Bakirkoy State Hosp Mental Hlth & Neurol Disorder, Clin Child & Adolescent Psychiat, Istanbul, Turkey. 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TI Aging in Autism Spectrum Disorders: A Mini-Review SO GERONTOLOGY LA English DT Review DE Autism; Asperger syndrome; Pervasive developmental disorders; Adults; Aging; Old age ID AGE-RELATED DIFFERENCES; ASPERGER-SYNDROME; OLDER-PEOPLE; EXECUTIVE DYSFUNCTION; HEMISPHERIC-ASYMMETRY; DEPRESSIVE SYMPTOMS; COGNITIVE RESERVE; SOCIAL-ISOLATION; CORPUS-CALLOSUM; RISK-FACTORS AB This article addresses an important and barely researched topic: what happens to children with autism spectrum disorders when they grow old. We review the small published literature on aging in autism. We then consider the relevance of research on 'neurotypical' aging in core domains of autistic impairment: social cognition, executive function, cognitive style and memory. Research themes from the study of normal aging, including cognitive reserve, compensation, quality of life, loneliness and physical health are of relevance for future research on autism. Studies of aging in autism will be important not only to plan appropriate services, but also to shed light on the full developmental trajectory of this neurodevelopmental condition, and perhaps provide clues to neuropathology and etiology. Copyright (C) 2011 S. Karger AG, Basel C1 [Happe, Francesca] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London SE5 8AF, England. [Charlton, Rebecca A.] Univ London, London, England. [Charlton, Rebecca A.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA. RP Happe, F (reprint author), Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, PO 80,Crespigny Pk,Denmark Hill, London SE5 8AF, England. 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TI Social Stories (TM) and Young Children: Strategies for Teachers SO INTERVENTION IN SCHOOL AND CLINIC LA English DT Article DE Social Stories; social skills; early childhood; social emotional functioning; learning disabilities ID AUTISM SPECTRUM DISORDERS; ASPERGER-SYNDROME; RESPONSE DELAY; BEHAVIOR; IMPROVE; ADOLESCENT; SKILLS AB Social Stories are becoming a popular intervention used to improve the social skills of children with disabilities. This article examines the use of Social Stories with young children with disabilities. Social Stories are described, creation guidelines are recommended, and strategies for Social Story implementation in the classroom are discussed. C1 Arizona State Univ, Div Educ Leadership & Innovat, Phoenix, AZ 85069 USA. RP More, CM (reprint author), Arizona State Univ, Div Educ Leadership & Innovat, POB 37100,Mail Code 3151, Phoenix, AZ 85069 USA. 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Professionals working in the field of autism must identify and address these areas of need given each individual child's specific cognitive profiles. In this article the authors highlight not only the importance of addressing these areas of difficulty but also the significance and power of recognizing and incorporating each child's unique strengths, interests, and talents to accomplish this. The authors present strategies created for individual students with autism spectrum disorders in upper elementary classes that capitalized on the students' authentic interests and strengths as a way of meeting their school-based challenges. Through these passions, the authors were able to tap into students' own motivation and true abilities, laying the foundation for success. C1 [Lanou, Aaron; Hough, Lauren] NYUs Steinhardt Sch Culture Educ & Human Dev, New York, NY USA. [Powell, Elizabeth] Chicago Publ Sch, Chicago, IL USA. 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PD JAN PY 2012 VL 47 IS 3 BP 183 EP 190 DI 10.1177/1053451211423813 PG 8 WC Education, Special SC Education & Educational Research GA 861TU UT WOS:000298042900008 ER PT J AU Laffey, J Schmidt, M Galyen, K Stichter, J AF Laffey, James Schmidt, Matthew Galyen, Krista Stichter, Janine TI Smart 3D collaborative virtual learning environments: A preliminary framework SO JOURNAL OF AMBIENT INTELLIGENCE AND SMART ENVIRONMENTS LA English DT Article DE 3D-VLE; 3D-CVLE; smart-systems; scaffolding; social-affordance; coaching ID INTELLIGENT TUTORING SYSTEMS AB With increases in access to powerful computing and high-speed networks, 3D virtual learning environments are being envisioned and developed as places for collaborative learning. These new environments for collaborative learning have promise for great authenticity in experience, great presence with others, and the monitoring/sensing of broad ranges of human cognition and behavior inferred from the actions of avatars. In the process of designing and building such an environment, iSocial, to develop social competency for youth with Autism Spectrum Disorder the authors have explored the potential for developing a smart system. The paper provides a framework for conceptualizing and implementing a smart 3D collaborative virtual learning environments based on 3 key constructs: environmental scaffolds, social affordances and coaching. The framework and constructs are illustrated using experiences and functionality developed for the iSocial system. C1 [Laffey, James; Schmidt, Matthew; Galyen, Krista; Stichter, Janine] Univ Missouri, Columbia, MO 65211 USA. RP Laffey, J (reprint author), Univ Missouri, 303A Townsend Hall, Columbia, MO 65211 USA. 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PY 2012 VL 4 IS 1 BP 49 EP 66 DI 10.3233/AIS-2011-0128 PG 18 WC Computer Science, Artificial Intelligence; Computer Science, Information Systems; Telecommunications SC Computer Science; Telecommunications GA 875QR UT WOS:000299049500005 ER PT J AU Wigal, SB Maltas, S Crinella, F Stehli, A Steinhoff, K Lakes, K Schuck, S AF Wigal, Sharon B. Maltas, Stephanie Crinella, Francis Stehli, Annamarie Steinhoff, Kenneth Lakes, Kimberley Schuck, Sabrina TI Reading Performance as a Function of Treatment With Lisdexamfetamine Dimesylate in Elementary School Children Diagnosed With ADHD SO JOURNAL OF ATTENTION DISORDERS LA English DT Article DE reading; ADHD; lisdexamfetamine dimesylate ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; HYPERACTIVITY DISORDER; GENETIC ETIOLOGY; NAMING SPEED; DISABILITY; AUTISM; IQ; METHYLPHENIDATE; COMPREHENSION; INTELLIGENCE AB Background: Medication treatment studies of ADHD have typically not assessed effects on reading performance, although reading difficulties frequently co-occur in children with ADHD. The current study characterizes the effects of lisdexamfetamine dimesylate (LDX; Vyvanse(R), Shire US Inc.), at peak efficacy, on reading performance in children with ADHD. Method: Children (ages 6-12; N = 26) with ADHD enrolled in a modified laboratory school study with an open-label, dose-optimization phase of LDX (30-70 mg/d). The Gray Oral Reading Test-4 (GORT-4) with measures of rate, accuracy, and comprehension was administered at baseline and 3-4 hr postdose, following 4 to 5 weeks of optimal dose titration. Results: Treatment reduced ADHD symptoms. Reading rate was improved, especially among children with higher verbal fluid reasoning without additional symptoms of neurodevelopmental delay. No differences were observed for reading accuracy or comprehension. Conclusion: Endophenotypical profiles may predict drug effects in specific skill areas, such as reading rate. (J. of Att. Dis. 2012; 16(1) 23-33) C1 [Wigal, Sharon B.; Steinhoff, Kenneth] Univ Calif Irvine, Child Dev Ctr, ADHD Res Grp, Dept Pediat, Irvine, CA 92717 USA. RP Wigal, SB (reprint author), Univ Calif Irvine, Child Dev Ctr, ADHD Res Grp, Dept Pediat, Irvine, CA 92717 USA. EM sbwigal@uci.edu FU Addrenex; Eli Lilly; McNeil; Next Wave Pharmaceuticals; Psychogenics; Quintiles; Shionogi; Shire; Shionogi Pharm.; NIMH; Shire Development, Inc. FX Dr. Kenneth A. Steinhoff is a consultant for McNeil, has received grant/research support from Addrenex, Eli Lilly, McNeil, Next Wave Pharmaceuticals, Psychogenics, Quintiles, Shionogi, and Shire. He is on the speaker or advisory boards for McNeil and Shire.Dr Sharon B. Wigal is a consultant for Abbott, McNeil, Shire, Taisho, and the NIMH and has received grant/research support from Addrenex, Eli Lilly, McNeil, Next Wave Pharmaceuticals, Psychogenics, Quintiles, Shionogi Pharm., Shire, and the NIMH. She is on the speaker or advisory boards for McNeil, the NIMH, Shire, and UCB.This study was an investigator-initiated study funded by Shire Development, Inc. The study sponsor approved the study design; however, the collection, analysis, and interpretation of data were made by the independent authors, as was the writing of this manuscript and the decision to submit this manuscript for publication in Journal of Attention Disorders. 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PD JAN PY 2012 VL 16 IS 1 BP 23 EP 33 DI 10.1177/1087054710378008 PG 11 WC Psychology, Developmental; Psychiatry SC Psychology; Psychiatry GA 866AP UT WOS:000298352300003 PM 20978273 ER PT J AU Schietecatte, I Roeyers, H Warreyn, P AF Schietecatte, Inge Roeyers, Herbert Warreyn, Petra TI Exploring the Nature of Joint Attention Impairments in Young Children with Autism Spectrum Disorder: Associated Social and Cognitive Skills SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Joint attention; Toddlers ID PRESCHOOL-CHILDREN; FACE PREFERENCE; LANGUAGE; INFANTS; IMITATION; GAZE; PLAY; MIND; INTERVENTION; INTENTIONS AB It is generally accepted that joint attention skills are impaired in children with autism spectrum disorder (ASD). 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Autism Dev. Disord. PD JAN PY 2012 VL 42 IS 1 BP 1 EP 12 DI 10.1007/s10803-011-1209-x PG 12 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600001 PM 21360019 ER PT J AU Feldman, MA Ward, RA Savona, D Regehr, K Parker, K Hudson, M Penning, H Holden, JJA AF Feldman, Maurice A. Ward, Rebecca A. Savona, Danielle Regehr, Kaleigh Parker, Kevin Hudson, Melissa Penning, Henderika Holden, Jeanette J. A. TI Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Early identification; At-risk infants ID MODIFIED CHECKLIST; EARLY IDENTIFICATION; CHILDREN; TODDLERS; AGE; INTERVENTION; SURVEILLANCE; DIAGNOSIS; HISTORY; MOTOR AB We developed and evaluated a new parent report instrument-Parent Observation of Early Markers Scale (POEMS)-to monitor the behavioral development of infants at risk for autism spectrum disorder (ASD) because they have older affected siblings. Parents of 108 at-risk infants (74 males, 34 females) completed the POEMS from child age 1-24 months. The POEMS had acceptable psychometric properties and promising predictive validity. Most concerning items were social and communication deficits, and intolerance to waiting. Results provide preliminary evidence that prospective parent report measures can help to detect early ASD symptoms in infants at biological risk. We invite researchers to join us in multi-center studies of the POEMS. C1 [Feldman, Maurice A.; Ward, Rebecca A.; Savona, Danielle; Regehr, Kaleigh] Brock Univ, Ctr Appl Disabil Studies, St Catharines, ON L2S 3A1, Canada. [Parker, Kevin] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada. [Hudson, Melissa; Holden, Jeanette J. A.] Queens Univ, Autism Res Program, Dept Psychiat, Kingston, ON K7M 8A6, Canada. [Hudson, Melissa; Holden, Jeanette J. A.] Queens Univ, Autism Res Program, Dept Physiol, Kingston, ON K7M 8A6, Canada. [Penning, Henderika] Queens Univ, Equ Off, Kingston, ON K7L 3N6, Canada. RP Feldman, MA (reprint author), Brock Univ, Ctr Appl Disabil Studies, 500 Glenridge Ave, St Catharines, ON L2S 3A1, Canada. 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Autism Dev. Disord. PD JAN PY 2012 VL 42 IS 1 BP 13 EP 22 DI 10.1007/s10803-011-1208-y PG 10 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600002 PM 21387111 ER PT J AU Yama, B Freeman, T Graves, E Yuan, S Campbell, MK AF Yama, Brie Freeman, Tom Graves, Erin Yuan, Su Campbell, M. Karen TI Examination of the Properties of the Modified Checklist for Autism in Toddlers (M-CHAT) in a Population Sample SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Autism; Modified checklist for autism in toddlers; M-CHAT; Toddlers; Developmental screening ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PRIMARY-CARE; FISH CONSUMPTION; YOUNG-CHILDREN; DIAGNOSIS; EPIDEMIOLOGY; SURVEILLANCE; INFANTS AB This study examines the following properties of the Modified Checklist for Autism in Toddlers (M-CHAT) in an unselected low-risk sample: (a) the maximum age for screen administration; (b) the positive screen rate in the absence of follow-up telephone interviews and; (c) the distributional properties of positive screens. Data came from a prospective cohort study (n = 1,604). Results suggest that the M-CHAT can appropriately be administered to children aged 20-48 months. Documented explanations provided by mothers during screening, appear to effectively identify potential screen misclassifications in the absence of the follow-up telephone interviews. This further emphasizes the importance of clinician expertise in verifying positive M-CHAT screens. Results have implications for the administration of the M-CHAT in clinical and research settings. C1 [Yama, Brie; Graves, Erin; Yuan, Su; Campbell, M. Karen] Univ Western Ontario, Dept Epidemiol & Biostat, London, ON N6A 5C1, Canada. [Yama, Brie; Graves, Erin; Yuan, Su; Campbell, M. Karen] Childrens Hlth Res Inst, Div Childrens Hlth & Therapeut, London, ON, Canada. [Freeman, Tom] Univ Western Ontario, Dept Family Med, London, ON N6A 5C1, Canada. [Campbell, M. Karen] Univ Western Ontario, Dept Obstet & Gynaecol, London, ON N6A 5C1, Canada. [Campbell, M. Karen] Univ Western Ontario, Dept Paediat, London, ON N6A 5C1, Canada. RP Campbell, MK (reprint author), Univ Western Ontario, Dept Epidemiol & Biostat, Kresge Bldg,Room K201, London, ON N6A 5C1, Canada. 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PD JAN PY 2012 VL 42 IS 1 BP 23 EP 34 DI 10.1007/s10803-011-1211-3 PG 12 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600003 PM 21373956 ER PT J AU McGregor, KK Berns, AJ Owen, AJ Michels, SA Duff, D Bahnsen, AJ Lloyd, M AF McGregor, Karla K. Berns, Amanda J. Owen, Amanda J. Michels, Sarah A. Duff, Dawna Bahnsen, Alison J. Lloyd, Melissa TI Associations Between Syntax and the Lexicon Among Children With or Without ASD and Language Impairment SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Specific language impairment; Syntax; Lexicon ID SYNTAGMATIC-PARADIGMATIC SHIFT; AUTISTIC SPECTRUM DISORDERS; SCHOOL-AGE-CHILDREN; VOCABULARY; ADOLESCENTS; ACQUISITION; KNOWLEDGE; ETIOLOGY; ABILITY; WORDS AB Five groups of children defined by presence or absence of syntactic deficits and autism spectrum disorders (ASD) took vocabulary tests and provided sentences, definitions, and word associations. Children with ASD who were free of syntactic deficits demonstrated age-appropriate word knowledge. Children with ASD plus concomitant syntactic language impairments (ASDLI) performed similarly to peers with specific language impairment (SLI) and both demonstrated sparse lexicons characterized by partial word knowledge and immature knowledge of word-to-word relationships. This behavioral overlap speaks to the robustness of the syntax-lexicon interface and points to a similarity in the ASDLI and SLI phenotypes. C1 [McGregor, Karla K.; Berns, Amanda J.; Owen, Amanda J.; Michels, Sarah A.; Duff, Dawna; Bahnsen, Alison J.; Lloyd, Melissa] UnivLowa, Iowa City, IA USA. [McGregor, Karla K.; Berns, Amanda J.; Owen, Amanda J.; Michels, Sarah A.; Duff, Dawna; Bahnsen, Alison J.; Lloyd, Melissa] Univ Iowa, Speech & Hearing Ctr, Iowa City, IA 52242 USA. RP McGregor, KK (reprint author), Univ Iowa, Speech & Hearing Ctr, Room 2, Iowa City, IA 52242 USA. 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PD JAN PY 2012 VL 42 IS 1 BP 48 EP 59 DI 10.1007/s10803-011-1215-z PG 12 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600005 PM 21442362 ER PT J AU Ganz, JB Earles-Vollrath, TL Heath, AK Parker, RI Rispoli, MJ Duran, JB AF Ganz, Jennifer B. Earles-Vollrath, Theresa L. Heath, Amy K. Parker, Richard I. Rispoli, Mandy J. Duran, Jaime B. TI A Meta-Analysis of Single Case Research Studies on Aided Augmentative and Alternative Communication Systems with Individuals with Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Augmentative and alternative communication; Aided AAC; Communication skills; Social skills; Interventions; Meta-analysis; Voice output communication aid; Speech-generating device; Picture Exchange Communication System ID SYNTHETIC SPEECH OUTPUT; CONFIDENCE-INTERVALS; SUBJECT RESEARCH; EFFECT SIZES; DEVELOPMENTAL-DISABILITIES; SPECIAL-EDUCATION; META-ANALYSIS; CHILDREN; PRESCHOOLERS; STUDENTS AB Many individuals with autism cannot speak or cannot speak intelligibly. A variety of aided augmentative and alternative communication (AAC) approaches have been investigated. Most of the research on these approaches has been single-case research, with small numbers of participants. The purpose of this investigation was to meta-analyze the single case research on the use of aided AAC with individuals with autism spectrum disorders (ASD). Twenty-four single-case studies were analyzed via an effect size measure, the Improvement Rate Difference (IRD). Three research questions were investigated concerning the overall impact of AAC interventions on targeted behavioral outcomes, effects of AAC interventions on individual targeted behavioral outcomes, and effects of three types of AAC interventions. Results indicated that, overall, aided AAC interventions had large effects on targeted behavioral outcomes in individuals with ASD. AAC interventions had positive effects on all of the targeted behavioral outcome; however, effects were greater for communication skills than other categories of skills. 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TI Enhanced Cortisol Response to Stress in Children in Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Cortisol; Autism; Stress; HPA; Adaptability; Neurobiology ID PSYCHOSOCIAL STRESS; SPECTRUM DISORDERS; CHILDHOOD AUTISM; RATING-SCALE; HORMONE; ADULTS AB Children with Autism often show difficulties in adapting to change. Previous studies of cortisol, a neurobiologic stress hormone reflecting hypothalamic-pituitary-adrenal (HPA) axis activity, in children with autism have demonstrated variable results. This study measured cortisol levels in children with and without Autism: (1) at rest; (2) in a novel environment; and (3) in response to a blood draw stressor. A significantly higher serum cortisol response was found in the group of children with autism. Analysis showed significantly higher peak cortisol levels and prolonged duration and recovery of cortisol elevation following the blood-stick stressor in children with autism. 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Autism Dev. Disord. PD JAN PY 2012 VL 42 IS 1 BP 75 EP 81 DI 10.1007/s10803-011-1214-0 PG 7 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600007 PM 21424864 ER PT J AU Kim, SH Lord, C AF Kim, So Hyun Lord, Catherine TI New Autism Diagnostic Interview-Revised Algorithms for Toddlers and Young Preschoolers from 12 to 47 Months of Age SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Autism spectrum disorders; ADI-R; Toddler; Preschool children; Diagnosis ID SPECTRUM DISORDERS; OBSERVATION SCHEDULE; ADI-R; CHILDREN; AGREEMENT AB Autism Diagnostic Interview-Revised (Rutter et al. in Autism diagnostic interview-revised. Western Psychological Services, Los Angeles, 2003) diagnostic algorithms specific to toddlers and young preschoolers were created using 829 assessments of children aged from 12 to 47 months with ASD, nonspectrum disorders, and typical development. The participants were divided into three more homogeneous groups by language level and age. Items that best differentiated the diagnostic groups were selected and arranged into domains based on multifactor item-response analyses. Using the new algorithms for toddlers and preschool children, we were able to improve sensitivity and specificity compared to the previously developed algorithm. C1 [Kim, So Hyun; Lord, Catherine] Univ Michigan Autism & Commun Disorders Ctr UMACC, Ann Arbor, MI 48109 USA. RP Kim, SH (reprint author), Univ Michigan Autism & Commun Disorders Ctr UMACC, 1111 Catherine St, Ann Arbor, MI 48109 USA. 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Autism Dev. Disord. PD JAN PY 2012 VL 42 IS 1 BP 82 EP 93 DI 10.1007/s10803-011-1213-1 PG 12 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600008 PM 21384244 ER PT J AU Lokhandwala, T Khanna, R West-Strum, D AF Lokhandwala, Tasneem Khanna, Rahul West-Strum, Donna TI Hospitalization Burden Among Individuals with Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Hospitalization; Cost ID HEALTH-CARE EXPENDITURES; SPECTRUM DISORDERS; CHILDREN; US; PREVALENCE; MEDICAID AB The objective of this study was to assess the inpatient care burden among individuals with autism using the 2007 Health Care Utilization Project Nationwide Inpatient Sample [HCUP-NIS]). There were similar to 26,000 hospitalizations among individuals with autism in 2007, with an overall rate of 65.6/100,000 admissions. 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TI Proton Magnetic Resonance Spectroscopy and MRI Reveal No Evidence for Brain Mitochondrial Dysfunction in Children with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Developmental disorders; MRS; MRI; Mitochondrial disorders; Brain metabolism; Lactate ID YOUNG-CHILDREN; DIAGNOSTIC EVALUATION; METABOLIC-RESPONSE; PANIC DISORDER; DISEASE; HYPERVENTILATION; ABNORMALITIES; DNA; INVOLVEMENT; DEFICIENCY AB Brain mitochondrial dysfunction has been proposed as an etiologic factor in autism spectrum disorder (ASD). Proton magnetic resonance spectroscopic imaging ((1)HMRS) and MRI were used to assess for evidence of brain mitochondrial dysfunction in longitudinal samples of children with ASD or developmental delay (DD), and cross-sectionally in typically developing (TD) children at 3-4, 6-7 and 9-10 years-of-age. A total of 239 studies from 130 unique participants (54ASD, 22DD, 54TD) were acquired. (1)HMRS and MRI revealed no evidence for brain mitochondrial dysfunction in the children with ASD. Findings do not support a substantive role for brain mitochondrial abnormalities in the etiology or symptom expression of ASD, nor the widespread use of hyperbaric oxygen treatment that has been advocated on the basis of this proposed relationship. C1 [Corrigan, Neva M.; Shaw, Dennis. W. W.; Richards, Todd L.; Petropoulos, Helen; Dager, Stephen R.] Univ Washington, Dept Radiol, Seattle, WA 98195 USA. [Shaw, Dennis. W. W.; Friedman, Seth D.] Seattle Childrens Hosp, Seattle, WA USA. [Artru, Alan A.] Univ Washington, Dept Anesthesiol, Seattle, WA 98195 USA. [Estes, Annette M.; Dager, Stephen R.] Univ Washington, Autism Ctr, Seattle, WA 98195 USA. [Estes, Annette M.] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98195 USA. [Dager, Stephen R.] Univ Washington, Dept Bioengn, Seattle, WA 98195 USA. RP Dager, SR (reprint author), Univ Washington, Dept Radiol, Seattle, WA 98195 USA. 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PD JAN PY 2012 VL 42 IS 1 BP 105 EP 115 DI 10.1007/s10803-011-1216-y PG 11 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600010 PM 21404085 ER PT J AU Merchan-Naranjo, J Mayoral, M Rapado-Castro, M Llorente, C Boada, L Arango, C Parellada, M AF Merchan-Naranjo, Jessica Mayoral, Maria Rapado-Castro, Marta Llorente, Cloe Boada, Leticia Arango, Celso Parellada, Mara TI Estimation of the Intelligence Quotient Using Wechsler Intelligence Scales in Children and Adolescents with Asperger Syndrome SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Asperger syndrome; Intelligence; Cognitive profile; Wechsler Scales; Short forms; Dyads ID HIGH-FUNCTIONING AUTISM; R SHORT FORMS; WAIS-III; WISC-R; CONCURRENT VALIDITY; 3RD EDITION; SCHIZOPHRENIA; PERFORMANCE; SAMPLE; IQ AB Asperger syndrome (AS) patients show heterogeneous intelligence profiles and the validity of short forms for estimating intelligence has rarely been studied in this population. We analyzed the validity of Wechsler Intelligence Scale (WIS) short forms for estimating full-scale intelligence quotient (FSIQ) and assessing intelligence profiles in 29 AS patients. Only the Information and Block Design dyad meets the study criteria. No statistically significant differences were found between dyad scores and FSIQ scores (t(28) = 1.757; p = 0.09). The dyad has a high correlation with FSIQ, good percentage of variance explained (R (2) = 0.591; p < 0.001), and high consistency with the FSIQ classification (chi (2)(36) = 45.202; p = 0.14). Short forms with good predictive accuracy may not be accurate in clinical groups with atypical cognitive profiles such as AS patients. C1 [Merchan-Naranjo, Jessica; Mayoral, Maria; Rapado-Castro, Marta; Llorente, Cloe; Boada, Leticia; Arango, Celso; Parellada, Mara] Hosp Gen Univ Gregorio Maranon, Child & Adolescent Psychiat Dept, Ctr Invest Biomed Red Salud Mental, CIBERSAM, Madrid, Spain. 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Autism Dev. Disord. PD JAN PY 2012 VL 42 IS 1 BP 123 EP 138 DI 10.1007/s10803-011-1224-y PG 16 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600012 PM 21424233 ER PT J AU Klintwall, L Gillberg, C Bolte, S Fernell, E AF Klintwall, Lars Gillberg, Christopher Bolte, Sven Fernell, Elisabeth TI The Efficacy of Intensive Behavioral Intervention for Children with Autism: A Matter of Allegiance? SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Letter C1 [Klintwall, Lars] Akershus Univ Coll, N-2001 Lillestrom, Norway. [Gillberg, Christopher] Univ Gothenburg, Inst Neurosci & Psysiol, Gothenburg, Sweden. [Bolte, Sven] Karolinska Inst, Dept Womens & Childrens Hlth, Karolinska Inst Ctr Neurodev Disorders KIND, Stockholm, Sweden. [Fernell, Elisabeth] Karolinska Inst, Autism Ctr Young Children Handicap & Habilitat, Stockholm, Sweden. [Fernell, Elisabeth] Univ Hosp, Stockholm, Sweden. RP Klintwall, L (reprint author), Akershus Univ Coll, POB 423, N-2001 Lillestrom, Norway. EM lars.klintwall@hiak.no CR Fernell E, 2010, RES DEV DISABIL, V31, P790, DOI 10.1016/j.ridd.2010.02.003 McLeod BD, 2009, CLIN PSYCHOL-SCI PR, V16, P69, DOI 10.1111/j.1468-2850.2009.01145.x Nordin V, 1996, DEV MED CHILD NEUROL, V38, P314 Sparrow SS, 2005, VINELAND ADAPTIVE BE Vismara LA, 2010, ANNU REV CLIN PSYCHO, V6, P447, DOI 10.1146/annurev.clinpsy.121208.131151 NR 5 TC 5 Z9 6 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 JAN PY 2012 VL 42 IS 1 BP 139 EP 140 DI 10.1007/s10803-011-1223-z PG 2 WC Psychology, Developmental SC Psychology GA 866DE UT WOS:000298359600013 PM 21424234 ER PT J AU Ledford, CJW Willett, KL Kreps, GL AF Ledford, Christy J. W. Willett, Kristen L. Kreps, Gary L. TI Communicating Immunization Science: The Genesis and Evolution of the National Network for Immunization Information SO JOURNAL OF HEALTH COMMUNICATION LA English DT Article ID VACCINE RISK COMMUNICATION; HEALTH INFORMATION; CREDIBILITY; CONTROVERSY; PERSUASION; MESSAGES; AUTISM; TESTS; WORLD; TOOL AB For 10 years, the National Network for Immunization Information (NNii) has pursued its goal to "provide the public, health professionals, policy makers, and the media with up-to-date, scientifically valid information related to immunizations to help them understand the issues and to make informed decisions." This investigation provides a critical evaluation of the strategic communication planning and implementation of NNii from conception to present day. The study uses a case study methodology, developing a systematic analysis of organizational documents, the media environment, and in-depth interviews by applying Weick's model of organizing as an interpretive framework. Iterative data analysis included open coding, axial coding, and thematic saturation. Themes were compared with phases of strategic communication and present study propositions. Major themes identified included the organization's informative nature, funding credibility, nonbranding, reflective evaluation, collaborative partnerships, and media strategy. NNii meets the requirements of requisite variety, nonsummativity, and organizational flexibility proposed by Weick's model of organizing. However, a lack of systematic evaluation of organization goals prevents it from adapting communication tactics and strategies. In addition, the authors recommend that NNii, while maintaining its informative nature, adopt persuasive strategies to attract and retain the attention of its target audiences. C1 [Ledford, Christy J. W.; Willett, Kristen L.; Kreps, Gary L.] George Mason Univ, Dept Commun, Fairfax, VA 22030 USA. RP Ledford, CJW (reprint author), George Mason Univ, Dept Commun, 4400 Univ Dr,MS 3D6, Fairfax, VA 22030 USA. EM cledfor1@gmu.edu CR Afifi WA, 2004, COMMUN THEOR, V14, P167, DOI 10.1111/j.1468-2885.2004.tb00310.x Ball LK, 1998, PEDIATRICS, V101, P453, DOI 10.1542/peds.101.3.453 BERLO DK, 1969, PUBLIC OPIN QUART, V33, P563, DOI 10.1086/267745 Botan C., 2006, PUBLIC RELATIONS THE, P197 Braverman J, 2008, COMMUN RES, V35, P666, DOI 10.1177/0093650208321785 BURGOON JK, 1976, CENT STATES SPEECH J, V27, P200 Centers for Disease Control and Prevention, 1999, MMWR-MORBID MORTAL W, V48, P243 Clarke CE, 2008, SCI COMMUN, V30, P77, DOI 10.1177/1075547008320262 CONRAD CF, 1978, SOCIOL EDUC, V51, P101, DOI 10.2307/2112242 Cooper Crystale Purvis, 2005, J Med Internet Res, V7, pe36, DOI 10.2196/jmir.7.3.e36 Cooper L. Z., 2008, PEDIATRICS, V122, P1 Corbin J., 1990, QUALITATIVE SOCIOLOG, V13, P3, DOI DOI 10.1007/BF00988593 Creswell J. 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E., 1986, COMMUNICATION PERSUA PETTY RE, 1984, ADV CONSUM RES, V11, P668 POWELL FC, 1995, PERCEPT MOTOR SKILL, V81, P675 Ratzan SC, 2008, J HEALTH COMMUN, V13, P617, DOI 10.1080/10810730802467259 Smith R. D., 2009, STRATEGIC PLANNING P Wakefield AJ, 1998, LANCET, V351, P637, DOI 10.1016/S0140-6736(97)11096-0 Weick K. E., 1979, SOCIAL PSYCHOL ORG Weick KE, 2006, ORGAN STUD, V27, P1723, DOI 10.1177/0170840606068351 Wolfe RM, 2002, JAMA-J AM MED ASSOC, V287, P3245, DOI 10.1001/jama.287.24.3245 Yin R.K., 2009, CASE STUDY RES DESIG, Vfourth NR 38 TC 1 Z9 1 PU TAYLOR & FRANCIS INC PI PHILADELPHIA PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA SN 1081-0730 J9 J HEALTH COMMUN JI J. Health Commun. PY 2012 VL 17 IS 1 BP 105 EP 122 DI 10.1080/10810730.2011.585693 PG 18 WC Communication; Information Science & Library Science SC Communication; Information Science & Library Science GA 876SV UT WOS:000299128900009 PM 22026482 ER PT J AU Wakabayashi, A Sasaki, J Ogawa, Y AF Wakabayashi, Akio Sasaki, Junko Ogawa, Youji TI Sex Differences in Two Fundamental Cognitive Domains Empathizing and Systemizing in Children and Adults SO JOURNAL OF INDIVIDUAL DIFFERENCES LA English DT Article DE sex differences in cognition; empathizing; systemizing; E-S theory; cognitive style; causal cognition; Eyes test; intuitive physics test ID HIGH-FUNCTIONING AUTISM; GENDER DIFFERENCES; MATHEMATICS PERFORMANCE; FETAL TESTOSTERONE; ASPERGER-SYNDROME; EYES TEST; METAANALYSIS; QUOTIENT; MIND; ABILITY AB Prior research indicates that, on average, females are superior at tasks concerned with the social cognitive domain, whereas males are superior at tasks concerned with physical cognitive domains. The empathizing-systemizing (E-S) theory explains these differences by proposing two independent cognitive drives: empathizing and systemizing. The present study explores sex differences and the relationship between these cognitive domains. Participants were 267 elementary school children (mean age = 9.8) and 102 university students (mean age = 20.7) who performed two tasks: the Eyes test and the intuitive physics test. Results showed that females scored higher than males on the Eyes test in both participant groups, whereas no marked sex differences appeared in the intuitive physics test. Distributions of cognitive styles, derived from performance differences in the two tasks, showed marked sex differences, and correlations between performances in the two tasks were near zero in both groups, were consistent with E-S theory. C1 [Wakabayashi, Akio] Chiba Univ, Dept Psychol, Chiba 2638522, Japan. RP Wakabayashi, A (reprint author), Chiba Univ, Dept Psychol, 1-33 Yayoi Cho, Chiba 2638522, Japan. EM akiowcam@mac.com CR Auyeung B, 2006, EUR J ENDOCRINOL, V155, pS123, DOI 10.1530/eje.1.02260 Auyeung B, 2009, J AUTISM DEV DISORD, V39, P1509, DOI 10.1007/s10803-009-0772-x Baron-Cohen S., 2001, J DEV LEARNING DISOR, V5, P47 Baron-Cohen S., 2003, ESSENTIAL DIFFERENCE Baron-Cohen S, 2004, PRENATAL TESTOSTERON Baron-Cohen S., 2003, AUTISM MIND BRAIN, P161 Baron-Cohen S, 2004, J AUTISM DEV DISORD, V34, P163, DOI 10.1023/B:JADD.0000022607.19833.00 Baron-Cohen S, 2001, J CHILD PSYCHOL PSYC, V42, P241, DOI 10.1017/S0021963001006643 BENBOW CP, 1988, BEHAV BRAIN SCI, V11, P169 Billington J, 2007, LEARN INDIVID DIFFER, V17, P260, DOI 10.1016/j.lindif.2007.02.004 Bora E, 2009, SCHIZOPHR RES, V109, P1, DOI 10.1016/j.schres.2008.12.020 Chapman E, 2006, SOC NEUROSCI, V1, P135, DOI 10.1080/17470910600992239 Davis M. 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Individ. Differ. PY 2012 VL 33 IS 1 BP 24 EP 34 DI 10.1027/1614-0001/a000058 PG 11 WC Psychology, Social SC Psychology GA 869WQ UT WOS:000298630000004 ER PT J AU Howell, DM Wittman, P Bundy, MB AF Howell, Dana M. Wittman, Peggy Bundy, Myra Beth TI Interprofessional clinical education for occupational therapy and psychology students: A social skills training program for children with autism spectrum disorders SO JOURNAL OF INTERPROFESSIONAL CARE LA English DT Article DE Autism; collaboration; interprofessional education; pre-qualifying/pre-licensure; qualitative method AB An interprofessional clinical learning experience was developed for pre-licensure occupational therapy (OT) and psychology graduate students. Students worked in interprofessional teams to plan and implement a social skills training program for children with autism spectrum disorders (ASD). The objectives were to provide a hands-on, student-led clinical experience; facilitate interprofessional collaborative learning through leadership partnerships and teach children with ASD to engage in appropriate social skill behaviors. Concurrently, faculty performed qualitative research to explore how the students worked together to provide intervention to the children. Data were collected via interview, direct observation of student planning sessions and student interprofessional interactions, and collection of posts from an online social network site used for session planning. There were six student participants and two faculty participants. Four themes emerged: learning who I am as a professional, learning to appreciate our professional differences, learning to communicate with each other and figuring it out, for the benefit of the kids. This interprofessional clinical learning experience and research helps ensure that students are adequately prepared to represent their profession as part of a diverse interprofessional health care team. C1 [Howell, Dana M.; Wittman, Peggy] Eastern Kentucky Univ, Dept Occupat Therapy, Richmond, KY 40475 USA. [Bundy, Myra Beth] Eastern Kentucky Univ, Dept Psychol, Richmond, KY 40475 USA. RP Howell, DM (reprint author), Eastern Kentucky Univ, Dept Occupat Therapy, 521 Lancaster Ave, Richmond, KY 40475 USA. 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Interprofessional Care PD JAN PY 2012 VL 26 IS 1 BP 49 EP 55 DI 10.3109/13561820.2011.620186 PG 7 WC Health Care Sciences & Services; Health Policy & Services SC Health Care Sciences & Services GA 874NI UT WOS:000298964800010 PM 22233368 ER PT J AU Klein, S Martinez-Agosto, JA AF Klein, S. Martinez-Agosto, J. A. TI MACROCEPHALY AS A CLINICAL INDICATOR OF GENETIC SUBTYPES IN AUTISM SO JOURNAL OF INVESTIGATIVE MEDICINE LA English DT Meeting Abstract CT Western Regional Meeting CY JAN 25-28, 2012 CL Carmel, CA C1 [Klein, S.; Martinez-Agosto, J. A.] Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 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 2012 VL 60 IS 1 BP 141 EP 142 PG 2 WC Medicine, General & Internal; Medicine, Research & Experimental SC General & Internal Medicine; Research & Experimental Medicine GA 869XV UT WOS:000298634401057 ER PT J AU Han, G Munson, J Elder, L Dawson, G Dager, S King, B Estes, A AF Han, G. Munson, J. Elder, L. Dawson, G. Dager, S. King, B. Estes, A. TI PATTERNS AND PREDICTORS OF MEDICATION USE IN CHILDREN AND ADOLESCENTS WITH AUTISM SPECTRUM DISORDER SO JOURNAL OF INVESTIGATIVE MEDICINE LA English DT Meeting Abstract CT Western Regional Meeting CY JAN 25-28, 2012 CL Carmel, CA C1 [Han, G.; Munson, J.; Elder, L.; Dager, S.; King, B.; Estes, A.] Univ Washington, Seattle, WA 98195 USA. [King, B.] Seattle Childrens Hosp, Seattle, WA USA. [Dawson, G.] Autism Speaks, New York, NY USA. [Dawson, G.] Univ N Carolina, Chapel Hill, NC 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 2012 VL 60 IS 1 BP 220 EP 221 PG 2 WC Medicine, General & Internal; Medicine, Research & Experimental SC General & Internal Medicine; Research & Experimental Medicine GA 869XV UT WOS:000298634401338 ER PT J AU Saunders, B Tilford, M Fussell, J Schulz, E Casey, P Kuo, DZ AF Saunders, B. Tilford, M. Fussell, J. Schulz, E. Casey, P. Kuo, D. Z. TI THE ADDITIONAL IMPACT OF INTELLECTUAL DISABILITY ON FAMILIES OF CHILDREN WITH AUTISM SO JOURNAL OF INVESTIGATIVE MEDICINE LA English DT Meeting Abstract CT Western Regional Meeting CY JAN 25-28, 2012 CL Carmel, CA C1 [Saunders, B.; Tilford, M.; Fussell, J.; Schulz, E.; Casey, P.; Kuo, D. Z.] Univ Arkansas Med Sci, Little Rock, AR 72205 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 2012 VL 60 IS 1 BP 393 EP 393 PG 1 WC Medicine, General & Internal; Medicine, Research & Experimental SC General & Internal Medicine; Research & Experimental Medicine GA 869XV UT WOS:000298634402299 ER PT J AU Miller, FA Hayeems, RZ Li, L Bytautas, JP AF Miller, Fiona Alice Hayeems, Robin Zoe Li, Li Bytautas, Jessica Peace TI What does 'respect for persons' require? Attitudes and reported practices of genetics researchers in informing research participants about research SO JOURNAL OF MEDICAL ETHICS LA English DT Article ID CLINICAL-TRIAL; RETURN; DUTY AB Background It has been suggested that researchers are obliged to offer summary findings to research participants to demonstrate respect for persons, and that this may increase public trust in, and awareness of, the research enterprise. Yet little research explores researchers' attitudes and practices regarding the range of initiatives that might serve these ends. Methods Results of an international survey of 785 eligible authors of genetics research studies in autism or cystic fibrosis are reported. Results Of 343 researchers who completed the survey (44% response rate), the majority agreed that their team should (i) inform participants of summary findings (90.7%) and (ii) ensure they gain an awareness of developments in the field (86.9%). Additionally, the majority reported that in practice, their team (i) informs participants of summary findings (69.4%) and (ii) provides other types of relevant non-results information (eg, state of science in the field, opportunities for research participation) (67.9%). Conclusion Researchers endorsed the obligation of communicating with research participants by providing summary findings and other research-related information in equal measure. In light of these findings, it is suggested that while the provision of summary results may contribute to efforts to discharge the obligation of respect for persons, it may be neither a necessary nor a sufficient means to this end. C1 [Miller, Fiona Alice; Hayeems, Robin Zoe; Bytautas, Jessica Peace] Univ Toronto, Dept Hlth Policy Management & Evaluat, Toronto, ON M5T 3M6, Canada. [Li, Li] Univ Toronto, Dept Stat, Toronto, ON M5T 3M6, Canada. RP Miller, FA (reprint author), Univ Toronto, Dept Hlth Policy Management & Evaluat, 155 Coll St,4th Floor, Toronto, ON M5T 3M6, Canada. EM fiona.miller@utoronto.ca FU Genome Canada, Canada; Genome Canada; Canadian Institutes of Health Research [80495]; CADRE; Canadian Institutes of Health Research; Canadian Health Services Research Foundation FX Genome Canada, 150 Metcalfe Street, Suite 2100, Ottawa, ON K2P 1P1, Canada.We thank our study participants for taking the time to complete our survey as well as Genome Canada for funding this project. We also thank our clinical collaborators in the context of cystic fibrosis genetic research (Drs Peter Durie, Julian Zielenski and Mary Corey) and autism spectrum disorders genetic research (Drs Stephen Scherer, Peter Szatmari, Wendy Roberts and Lonnie Zwaigenbaum). FAM is supported by a new investigator award from the Canadian Institutes of Health Research (80495). RZH has been supported by a CADRE postdoctoral fellowship from the Canadian Institutes of Health Research and the Canadian Health Services Research Foundation, and a CF Canada Research Fellowship. Sponsors' support for this work should not imply endorsement of the conclusions, for which the authors retain sole responsibility. 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Ethics PD JAN PY 2012 VL 38 IS 1 BP 48 EP 52 DI 10.1136/jme.2010.041350 PG 5 WC Ethics; Medical Ethics; Social Issues; Social Sciences, Biomedical SC Social Sciences - Other Topics; Medical Ethics; Social Issues; Biomedical Social Sciences GA 863AU UT WOS:000298136000013 PM 21685149 ER PT J AU Liu, GY Jiang, YS Wang, P Feng, RN Jiang, N Chen, XY Song, H Chen, ZG AF Liu, Guiyou Jiang, Yongshuai Wang, Ping Feng, Rennan Jiang, Nan Chen, Xiaoyun Song, Hui Chen, Zugen TI Cell adhesion molecules contribute to Alzheimer's disease: multiple pathway analyses of two genome-wide association studies SO JOURNAL OF NEUROCHEMISTRY LA English DT Article DE Alzheimer's disease; cell adhesion molecules; complex neurological disorder; genome-wide association studies; multiple testing correction; pathway analysis ID AMYLOID PRECURSOR PROTEIN; AUTISM SPECTRUM DISORDER; GENE SET ENRICHMENT; IDENTIFIES VARIANTS; EXPRESSION; SYSTEM; LOCI; CLU; NEURODEGENERATION; INFLAMMATION AB Alzheimers disease (AD) is a kind of complex neurological disorder. The complex genetic architecture of AD makes genetic analysis difficult. Fortunately, a pathway-based method to study the existing genome-wide association studies datasets has been applied into AD. However, no shared Kyoto Encyclopaedia of Genes and Genomes (KEGG) pathway was reported. In this study, we performed multiple pathway analyses of French AD genome-wide association studies dataset (discovery dataset, n = 7360, 2032 cases and 5328 controls) and Pfizer dataset (validation dataset, n = 2220, 1034 cases and 1186 controls). First, we performed multiple pathway analyses by Hypergeometric test, improved gene set enrichment analysis (IGSEA) and Z-statistic test in KEGG. Using Hypergeometric test, we identified 54 and 25 significant pathways (p < 0.05) in discovery dataset and validation dataset, respectively. Using IGSEA method, we identified three significant pathways in both discovery and validation datasets, respectively. Using Z-statistic test, we identified 19 significant pathways in validation dataset. Among the significant pathways, cell adhesion molecules (CAM) pathway was identified to be the only consistent signal emerging across multiple analyses in KEGG. After permutation and multiple testing corrections, CAM pathway was significant with p = 2.40E-05 (Hypergeometric test) and p = 3.00E-03 (IGSEA) in discovery dataset. In validation dataset, CAM pathway was significant with p = 1.84E-06 (Hypergeometric test), p = 1.00E-02 (IGSEA) and p = 2.81E-03 (Z-statistic test). We replicated the association by multiple pathway analyses in Gene Ontology using Hypergeometric test (WebGestalt), modified Fishers exact test (DAVID) and Binomial test (PANTHER). Our findings provided further evidence on the association between CAM pathway and AD susceptibility, which would be helpful to study the genetic mechanisms of AD and may significantly assist in the development of therapeutic strategies. C1 [Liu, Guiyou] Chinese Acad Sci, Tianjin Inst Ind Biotechnol, Tianjin Airport Econ Area, Tianjin 300308, Peoples R China. [Jiang, Yongshuai] Harbin Med Coll, Coll Bioinformat Sci & Technol, Harbin, Peoples R China. [Feng, Rennan] Harbin Med Coll, Sch Publ Hlth, Dept Nutr & Food Hyg, Harbin, Peoples R China. [Chen, Zugen] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA USA. RP Liu, GY (reprint author), Chinese Acad Sci, Tianjin Inst Ind Biotechnol, Tianjin Airport Econ Area, Xiqi Dao 32, Tianjin 300308, Peoples R China. EM liuguiyou1981@163.com; chen_zg@tib.cas.cn FU Chinese Academy of Sciences [10ZCZDSY06400, 10ZCKFSY05500, KSCX2-YW-BR-3] FX This research is supported by the grants from the Tianjin Science and Technology Support Program (10ZCZDSY06400, 10ZCKFSY05500), One Hundred Person Project of the Chinese Academy of Sciences (KSCX2-YW-BR-3). The authors reported no biomedical financial interests or potential conflicts of interest. We thank Lambert et al. and Xiaolan Hu et al. for the GWAS data of AD. We appreciate the useful comments made by anonymous reviewers. 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EV's talent is evident in the unusual circumstances of her acquisition of both her first (Bulgarian) and second (German) languages and the unique patterns of both receptive and expressive language (in both the L1 and L2), in which she shows subtle dissociations in competence and performance consistent with an uneven cognitive profile of skills and abilities. We argue that this case provides support for theories of language learning and usage that require more general underlying cognitive mechanisms and skills. One such account, the Weak Central Coherence (WCC) hypothesis of autism, provides a plausible framework for the interpretation of the simultaneous co-occurrence of EV's particular pattern of cognitive strengths and weaknesses. Furthermore, we show that specific features of the uneven cognitive profile of Asperger syndrome can help explain the observed language talent displayed by EV. Thus, rather than demonstrating a case where language learning takes place despite the presence of deficits, EV's case illustrates how a pattern of strengths within this profile can specifically promote language learning. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Vulchanova, Mila; Vulchanov, Valentin] Norwegian Univ Sci & Technol, Dept Modern Languages, Language Acquisit & Language Proc Lab, N-7491 Trondheim, Norway. [Talcott, Joel B.] Aston Univ, Sch Life & Hlth Sci, Aston Brain Ctr, Birmingham B4 7ET, W Midlands, England. [Stankova, Margarita] New Bulgarian Univ, Cognit Sci & Psychol Dept, Sofia 1618, Bulgaria. RP Vulchanova, M (reprint author), Norwegian Univ Sci & Technol, Dept Modern Languages, Language Acquisit & Language Proc Lab, N-7491 Trondheim, Norway. EM mila.vulchanova@ntnu.no FU Faculty of Humanities, NTNU [H06343] FX The authors would like to thank the participants at the Talent in the Face of Deficit International Conference, Trondheim, 2009, and the Language and Cognition Workshop, Arhus 2010 for useful comments and suggestions. We also thank Matthias Weisgerber for conducting the testing in German and Mathias Scharinger for help with the German lexical decision task. We are grateful to the Faculty of Humanities, NTNU for supporting the initial stages of the research with grant H06343. 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PD JAN PY 2012 VL 25 IS 1 BP 13 EP 30 DI 10.1016/j.jneuroling.2011.07.004 PG 18 WC Linguistics; Neurosciences; Psychology, Experimental SC Linguistics; Neurosciences & Neurology; Psychology GA 854KR UT WOS:000297493900002 ER PT J AU Frazier, TW Youngstrom, EA Speer, L Embacher, R Law, P Constantino, J Findling, RL Hardan, AY Eng, C AF Frazier, Thomas W. Youngstrom, Eric A. Speer, Leslie Embacher, Rebecca Law, Paul Constantino, John Findling, Robert L. Hardan, Antonio Y. Eng, Charis TI Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE autism spectrum disorder; diagnosis; factor analysis; latent class; factor mixture ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC INTERVIEW; GENERAL-POPULATION; LATENT STRUCTURE; CHILDREN; TRAITS; TWIN; AGE; ACCURACY; MODELS AB Objective: The primary aim of the present study was to evaluate the validity of proposed DSM-5 criteria for autism spectrum disorder (ASD). Method: We analyzed symptoms from 14,744 siblings (8,911 ASD and 5,863 non-ASD) included in a national registry, the Interactive Autism Network. Youth 2 through 18 years of age were included if at least one child in the family was diagnosed with ASD. Caregivers reported symptoms using the Social Responsiveness Scale and the Social Communication Questionnaire. The structure of autism symptoms was examined using latent variable models that included categories, dimensions, or hybrid models specifying categories and subdimensions. Diagnostic efficiency statistics evaluated the proposed DSM-5 algorithm in identifying ASD. Results: A hybrid model that included both a category (ASD versus non-ASD) and two symptom dimensions (social communication/interaction and restricted/repetitive behaviors) was more parsimonious than all other models and replicated across measures and subsamples. Empirical classifications from this hybrid model closely mirrored clinical ASD diagnoses (90% overlap), implying a broad ASD category distinct from non-ASD. DSM-5 criteria had superior specificity relative to DSM-IV-TR criteria (0.97 versus 0.86); however sensitivity was lower (0.81 versus 0.95). Relaxing DSM-5 criteria by requiring one less symptom criterion increased sensitivity (0.93 versus 0.81), with minimal reduction in specificity (0.95 versus 0.97). Conclusions: Results supported the validity of proposed DSM-5 criteria for ASD as provided in Phase I Field Trials criteria. Increased specificity of DSM-5 relative to DSM-IV-TR may reduce false positive diagnoses, a particularly relevant consideration for low base rate clinical settings. Phase H testing of DSM-5 should consider a relaxed algorithm, without which as many as 12% of ASD-affected individuals, particularly females, will be missed. Relaxed DSM-5 criteria may improve identification of ASD, decreasing societal costs through appropriate early diagnosis and maximizing intervention resources. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(1):28-40. C1 [Frazier, Thomas W.; Speer, Leslie; Embacher, Rebecca] Cleveland Clin, Ctr Autism, Cleveland, OH 44104 USA. [Frazier, Thomas W.; Speer, Leslie] Cleveland Clin, Ctr Pediat Behav Hlth, Cleveland, OH 44104 USA. [Youngstrom, Eric A.] Univ N Carolina, Chapel Hill, NC USA. [Constantino, John] Washington Univ, St Louis, MO 63130 USA. [Findling, Robert L.] Case Western Reserve Univ, Cleveland, OH 44106 USA. [Hardan, Antonio Y.] Stanford Univ, Stanford, CA 94305 USA. [Eng, Charis] Cleveland Clin, Genom Med Inst, Taussig Canc Inst, Cleveland, OH 44104 USA. [Eng, Charis] Cleveland Clin, Stanley Shalom Zielony Inst Nursing Excellence, Cleveland, OH 44104 USA. RP Frazier, TW (reprint author), Cleveland Clin, Ctr Autism, 2801 Martin Luther King Jr Dr,CRS10, Cleveland, OH 44104 USA. EM fraziet2@ccf.org FU National Center for Research Resources [UL1 RR024989]; Autism Speaks; National Institute of Child Health and Human Development [HD42541]; Shire Development, Inc.; Bristol-Myers Squibb; Integragen; National Institutes of Health (NIH); Brain and Behavior Research Foundation; Abbott; Addrenex; AstraZeneca; Biovail; Forest; GlaxoSmithKline; Johnson and Johnson; KemPharm; Eli Lilly and Co.; Lundbeck; Merck; Neuropharm; Novartis; Noven; Organon; Otsuka; Pfizer; Rhodes Pharmaceuticals; Sanofi-Aventis; Schering-Plough; Seaside therapeutics; Sepracore; Shire; Solvay; Sunovion; Supernus Pharmaceuticals; Transcept; Validus; Wyeth; NIH; National Institute of Child Health and Human Development; National Institute of mental Health; Department of Health and Human Services; Centers for Disease Control and Prevention FX This publication was made possible by the Case Western Reserve University/Cleveland Clinic Clinical and Translational Grant Number UL1 RR024989 from the National Center for Research Resources. Autism Speaks provided support for the Interactive Autism Network project and Dr. Law. Funding from the National Institute of Child Health and Human Development Grant Number HD42541 supported Dr. Constantino's involvement. Dr. Eng is a Doris Duke Distinguished Clinical Scientist and holds the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine at the Cleveland Clinic.Dr. Frazier has received federal funding or research support from, acted as a consultant to, or received travel support From Shire Development, Inc., Bristol-Myers Squibb, Integragen, the National Institutes of Health (NIH) and the Brain and Behavior Research Foundation. Dr. Youngstrom has received travel support from Bristol-Myers Squibb. Dr. Findling receives or has received research support, acted as a consultant to and/or served on a speakers' bureau for Abbott, Addrenex, AstraZeneca, Biovail, Bristol-Myers Squibb, Forest, GlaxoSmithKline, Johnson and Johnson, KemPharm, Eli Lilly and Co., Lundbeck, Merck, Neuropharm, Novartis, Noven, Organon, Otsuka, Pfizer, Rhodes Pharmaceuticals, Sanofi-Aventis, Schering-Plough, Seaside therapeutics, Sepracore, Shire, Solvay, Sunovion, Supernus Pharmaceuticals, Transcept, Validus, and Wyeth. Dr. Constantino receives grant or research support from NIH, National Institute of Child Health and Human Development, the National Institute of mental Health, the Department of Health and Human Services, Autism Speaks, and the Centers for Disease Control and Prevention. He receives royalties From Western Psychological Services for the commercial distribution of the Social Responsiveness Scale, one of the metrics used in this study; no royalties were generated by any (of the assessments performed in the present research. Drs. Law, Speer, Eng, and Hardan, and Ms. Embacher report no biomedical financial interests or potential conflicts of interest. 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Am. Acad. Child Adolesc. Psychiatr. PD JAN PY 2012 VL 51 IS 1 BP 28 EP 40 DI 10.1016/j.jaac.2011.09.021 PG 13 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 868NP UT WOS:000298530300005 PM 22176937 ER PT J AU Mandy, WPL Charman, T Skuse, DH AF Mandy, William P. L. Charman, Tony Skuse, David H. TI Testing the Construct Validity of Proposed Criteria for DSM-5 Autism Spectrum Disorder SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE autism spectrum disorder; DSM-5; construct validity; confirmatory factor analysis; broader autism phenotype ID DIAGNOSTIC INTERVIEW; SYMPTOM MODEL; FIT INDEXES; ASSOCIATION; BEHAVIORS; PHENOTYPE AB Objective: To use confirmatory factor analysis to test the construct validity of the proposed DSM-5 symptom model of autism spectrum disorder (ASD), in comparison to alternative models, including that described in DSM-IV-TR. Method: Participants were 708 verbal children and young persons (mean age, 9.5 years) with mild to severe autistic difficulties. Autistic symptoms were measured using the Developmental, Dimensional and Diagnostic interview (3Di). The fit of the two-factor DSM-5 model, which has a social communication and a restricted, repetitive behavior (RRB) factor, was compared with that of alternative models. In one half of the sample, properties of the DSM-5 model were examined to investigate the validity of specific diagnostic criteria, informing the development of a better fitting DSM-5 model. This was then cross-validated in the remaining "hold-out" half of the sample; and its stability was tested across groups defined by age, sex, and symptom severity. Results: The DSM-5 model was superior to the three-factor DSM-IV-TR model. It was improved by the removal of items measuring "play and imagination" and "stereotyped and repetitive use of language." A scale measuring sensory abnormalities was added to the model, and loaded onto its RRB factor. This DSM-5 model fit well in the hold-out sample; was stable across age and sex; and fit adequately in those with clinical and sub-threshold autistic presentations. Conclusions: Among higher-functioning individuals, ASD is a dyad, not a triad, with distinct social communication and repetitive behavior dimensions. As suggested in the proposed DSM-5 criteria, sensory abnormalities are part of the RRB symptom cluster. J. Am. Acad. Child Adolesc. Psychiatry, 2012;51(1):41-50. C1 [Skuse, David H.] UCL, Inst Child Hlth, London WC1N 6BT, England. [Mandy, William P. L.] UCL, Res Dept Clin Hlth & Educ Psychol, London WC1N 6BT, England. [Charman, Tony] Univ London, Inst Educ, Ctr Res Autism & Educ, London WC1N 1AZ, England. RP Mandy, WPL (reprint author), UCL, Res Dept Clin Educ & Hlth Psychol, London WC1N 6BT, England. EM w.mandy@ucl.ac.uk RI Charman, Tony/A-2085-2014 OI Charman, Tony/0000-0003-1993-6549 FU Medical Research Council; European Science Foundation; Autistica; Autism Education Trust; Department of Education FX Dr. Skuse is a stockholder in Ixdx Ltd., which owns exclusive rights to 3Di software and to the dissemination of 3Di technology and intellectual property. Dr. Charman receives grant or research support from the Medical Research Council, the European Science Foundation, Autistica, the Autism Education Trust, and the Department of Education. He receives royalties from Guilford Press and Sage. Dr. Mandy reports no biomedical financial interests or potential conflicts of interest. CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT American Psychiatric Association, PROP REV Arbuckle J. L., 2010, IBM SPSS AMOS 19 USE Autism Genetic Research Exchange, AGRE AFF STAT CAT Ben-Sasson A, 2009, J AUTISM DEV DISORD, V39, P1, DOI 10.1007/s10803-008-0593-3 Boomsma A, 2008, J CHILD PSYCHOL PSYC, V49, P809, DOI 10.1111/j.1469-7610.2008.01897.x Byrne B. M., 2010, STRUCTURAL EQUATION, V2nd Charman T, 2011, BRAIN RES, V1380, P10, DOI 10.1016/j.brainres.2010.10.075 Chen YH, 2009, J AUTISM DEV DISORD, V39, P635, DOI 10.1007/s10803-008-0663-6 Cheung GW, 2002, STRUCT EQU MODELING, V9, P233, DOI 10.1207/S15328007SEM0902_5 Constantino JN, 2003, ARCH GEN PSYCHIAT, V60, P524, DOI 10.1001/archpsyc.60.5.524 Dunn L. 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Am. Acad. Child Adolesc. Psychiatr. PD JAN PY 2012 VL 51 IS 1 BP 41 EP 50 DI 10.1016/j.jaac.2011.10.013 PG 10 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 868NP UT WOS:000298530300006 PM 22176938 ER PT J AU Domnitei, D AF Domnitei, Diana TI Teaching Social Communication to Children With Autism: A Practitioner's Guide to Parent Training and a Manual for Parents SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Book Review C1 [Domnitei, Diana] Creighton Univ, Univ Nebraska Psychiat Program, Omaha, NE 68178 USA. RP Domnitei, D (reprint author), Creighton Univ, Univ Nebraska Psychiat Program, Omaha, NE 68178 USA. EM dianadomnitei@creighton.edu CR Dvortcsak A., 2010, TEACHING SOCIAL COMM NR 1 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0890-8567 J9 J AM ACAD CHILD PSY JI J. Am. Acad. Child Adolesc. Psychiatr. PD JAN PY 2012 VL 51 IS 1 BP 115 EP 116 DI 10.1016/j.jaac.2011.11.005 PG 2 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 868NP UT WOS:000298530300013 ER PT J AU Ehninger, D Sano, Y de Vries, PJ Dies, K Franz, D Geschwind, DH Kaur, M Lee, YS Li, W Lowe, JK Nakagawa, JA Sahin, M Smith, K Whittemore, V Silva, AJ AF Ehninger, D. Sano, Y. de Vries, P. J. Dies, K. Franz, D. Geschwind, D. H. Kaur, M. Lee, Y-S Li, W. Lowe, J. K. Nakagawa, J. A. Sahin, M. Smith, K. Whittemore, V. Silva, A. J. TI Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice SO MOLECULAR PSYCHIATRY LA English DT Article DE tuberous sclerosis; TCS2; poly I:C; gestational immune activation; autism; ASD; behavior ID AUTISM SPECTRUM DISORDERS; TUBEROUS SCLEROSIS COMPLEX; FRAGILE-X-SYNDROME; POLY I-C; CONGENITAL-RUBELLA; CYTOMEGALOVIRUS-INFECTION; BRAIN DEVELOPMENT; DENDRITIC CELLS; INNATE IMMUNITY; SEASON AB Approximately 40-50% of individuals affected by tuberous sclerosis (TSC) develop autism spectrum disorders (ASDs). One possible explanation for this partial penetrance is an interaction between TSC gene mutations and other risk factors such as gestational immune activation. In this study, we report the interactive effects of these two ASD risk factors in a mouse model of TSC. Combined, but not single, exposure had adverse effects on intrauterine survival. Additionally, provisional results suggest that these factors synergize to disrupt social approach behavior in adult mice. Moreover, studies in human populations are consistent with an interaction between high seasonal flu activity in late gestation and TSC mutations in ASD. Taken together, our studies raise the possibility of a gene x environment interaction between heterozygous TSC gene mutations and gestational immune activation in the pathogenesis of TSC-related ASD. Molecular Psychiatry (2012) 17, 62-70; doi:10.1038/mp.2010.115; published online 16 November 2010 C1 [Ehninger, D.] German Ctr Neurodegenerat Dis, DZNE, D-53175 Bonn, Germany. [Ehninger, D.; Sano, Y.; Kaur, M.; Lee, Y-S; Li, W.; Silva, A. J.] Univ Calif Los Angeles, Dept Neurobiol, Los Angeles, CA USA. [Ehninger, D.; Sano, Y.; Kaur, M.; Lee, Y-S; Li, W.; Silva, A. J.] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA USA. [Ehninger, D.; Sano, Y.; Kaur, M.; Lee, Y-S; Li, W.; Silva, A. J.] Univ Calif Los Angeles, Dept Behav Sci, Los Angeles, CA USA. [Ehninger, D.; Sano, Y.; Kaur, M.; Lee, Y-S; Li, W.; Silva, A. J.] Univ Calif Los Angeles, Brain Res Inst, Los Angeles, CA 90024 USA. [de Vries, P. J.] Cambridgeshire & Peterborough NHS Fdn Trust, Neurodev Serv, Peterborough, Cambs, England. [de Vries, P. J.] Univ Cambridge, Dev Psychiat Sect, Cambridge, England. [Dies, K.; Sahin, M.] Harvard Univ, Sch Med, Dept Neurol, FM Kirby Neurobiol Ctr,Childrens Hosp Boston, Boston, MA 02115 USA. [Franz, D.] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA. [Geschwind, D. H.; Li, W.] Univ Calif Los Angeles, Neurogenet Program, Los Angeles, CA USA. [Nakagawa, J. A.; Smith, K.; Whittemore, V.] Tuberous Sclerosis Alliance, Silver Spring, MD USA. RP Ehninger, D (reprint author), German Ctr Neurodegenerat Dis, DZNE, Ludwig Erhard Allee 2, D-53175 Bonn, Germany. EM Dan.Ehninger@dzne.de; silvaa@ucla.edu FU German Center for Neurodegenerative Diseases; NIH [R01 MH084315]; Children's Hospital Boston FX We thank Paul H Patterson and Steven E Smith for valuable input regarding the gestational immune activation paradigm. This work was supported by funds of the German Center for Neurodegenerative Diseases to DE, the NIH R01 MH084315 to AJS and a grant from the Children's Hospital Boston Translational Research Program to MS. 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Psychiatr. PD JAN PY 2012 VL 17 IS 1 BP 62 EP 70 DI 10.1038/mp.2010.115 PG 9 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA 875EU UT WOS:000299014000011 PM 21079609 ER PT J AU Durand, CM Perroy, J Loll, F Perrais, D Fagni, L Bourgeron, T Montcouquiol, M Sans, N AF Durand, C. M. Perroy, J. Loll, F. Perrais, D. Fagni, L. Bourgeron, T. Montcouquiol, M. Sans, N. TI SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism SO MOLECULAR PSYCHIATRY LA English DT Article DE actin; autism; axonal outgrowth; hippocampus; Shank3; spine ID POSTSYNAPTIC DENSITY PROTEINS; ARP2/3 COMPLEX; SPECTRUM DISORDERS; SYNAPTIC-TRANSMISSION; MENTAL-RETARDATION; BINDING PROTEIN; RAT-BRAIN; N-WASP; FAMILY; MORPHOGENESIS AB Genetic mutations of SHANK3 have been reported in patients with intellectual disability, autism spectrum disorder (ASD) and schizophrenia. At the synapse, Shank3/ProSAP2 is a scaffolding protein that connects glutamate receptors to the actin cytoskeleton via a chain of intermediary elements. Although genetic studies have repeatedly confirmed the association of SHANK3 mutations with susceptibility to psychiatric disorders, very little is known about the neuronal consequences of these mutations. Here, we report the functional effects of two de novo mutations (STOP and Q321R) and two inherited variations (R12C and R300C) identified in patients with ASD. We show that Shank3 is located at the tip of actin filaments and enhances its polymerization. Shank3 also participates in growth cone motility in developing neurons. The truncating mutation (STOP) strongly affects the development and morphology of dendritic spines, reduces synaptic transmission in mature neurons and also inhibits the effect of Shank3 on growth cone motility. The de novo mutation in the ankyrin domain (Q321R) modifies the roles of Shank3 in spine induction and morphology, and actin accumulation in spines and affects growth cone motility. Finally, the two inherited mutations (R12C and R300C) have intermediate effects on spine density and synaptic transmission. Therefore, although inherited by healthy parents, the functional effects of these mutations strongly suggest that they could represent risk factors for ASD. Altogether, these data provide new insights into the synaptic alterations caused by SHANK3 mutations in humans and provide a robust cellular readout for the development of knowledge-based therapies. Molecular Psychiatry (2012) 17, 71-84; doi:10.1038/mp.2011.57; published online 24 May 2011 C1 [Durand, C. M.; Loll, F.; Montcouquiol, M.; Sans, N.] INSERM, U862, Planar Polar & Plast Grp, Lab Pathophysiol Neural Plast,Neuroctr Magendie, F-33077 Bordeaux, France. [Durand, C. M.; Loll, F.; Perrais, D.; Montcouquiol, M.; Sans, N.] Univ Bordeaux, Bordeaux, France. [Perroy, J.; Fagni, L.] Univ Montpellier I & II, INSERM U661, CNRS UMR5203, Inst Funct Genom, Montpellier, France. [Perrais, D.] CNRS, Interdisciplinary Inst Neurosci, UMR 5297, Bordeaux, France. [Bourgeron, T.] Inst Pasteur, Paris, France. [Bourgeron, T.] Univ Paris 07, Paris, France. RP Sans, N (reprint author), INSERM, U862, Planar Polar & Plast Grp, Lab Pathophysiol Neural Plast,Neuroctr Magendie, F-33077 Bordeaux, France. EM nathalie.sans@inserm.fr FU INSERM; Conseil Regional d'Aquitaine; La Fondation pour la Recherche Medicale; La Fondation Jerome Lejeune; FRM fellowship; Orange fellowship; European Commission [LSHM-CT-2005-19063]; Conseil Regional d'Aquitaine [20030304002FA, 20040305003FA]; European Union [2003227]; NIH [U24NS050606] FX We thank I Macara for providing the monomeric RFP construct and C Gauthier-NRouviere for the monomeric RFP-Nactin construct. We thank Julien Bensalem, Marie-NClaude Donat, Lea Lasvaux, and Chantal Medina for technical assistance; we thank Drs Jerome Ezan, Roberto Toro and Claudia Racca for helpful comments and discussion. This work was supported by INSERM AVENIR grant (NS and MM), Conseil Regional d'Aquitaine (NS, MM), La Fondation pour la Recherche Medicale (NS, MM), La Fondation Jerome Lejeune (NS), FRM and Orange fellowships (CD) and the European Commission Coordination Action ENINET (contract number LSHM-CT-2005-19063; NS and MM). The sequencing was performed at the Sequencing facility of Bordeaux (grants from the Conseil Regional d'Aquitaine no 20030304002FA and 20040305003FA and from the European Union, FEDER no 2003227). The confocal microscopy was done at the Bordeaux Imaging Center of the Neurosciences Institute of the University of Bordeaux II. The monoclonal antibody against Shank3 was developed by and obtained from the UC Davis/NINDS/NIMH NeuroMab Facility, supported by the NIH grant U24NS050606 and maintained by the Department of Pharmacology, School of Medicine, University of California, Davis, CA 95616, USA. 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Psychiatr. PD JAN PY 2012 VL 17 IS 1 BP 71 EP 84 DI 10.1038/mp.2011.57 PG 14 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA 875EU UT WOS:000299014000012 PM 21606927 ER PT J AU Moghaddam, B Javitt, D AF Moghaddam, Bita Javitt, Daniel TI From Revolution to Evolution: The Glutamate Hypothesis of Schizophrenia and its Implication for Treatment SO NEUROPSYCHOPHARMACOLOGY LA English DT Review DE NMDA receptors; antipsychotic drugs; cognition; dopamine ID METHYL-D-ASPARTATE; MISMATCH NEGATIVITY GENERATION; PREPULSE INHIBITION DEFICITS; GLYCINE TRANSPORT INHIBITORS; RECEPTOR AGONIST LY379268; SARCOSINE N-METHYLGLYCINE; SUBUNIT GENE GRIN2B; AMINO-ACID OXIDASE; PROOF-OF-CONCEPT; ADD-ON TREATMENT AB Glutamate is the primary excitatory neurotransmitter in mammalian brain. Disturbances in glutamate-mediated neurotransmission have been increasingly documented in a range of neuropsychiatric disorders including schizophrenia, substance abuse, mood disorders, Alzheimer's disease, and autism-spectrum disorders. Glutamatergic theories of schizophrenia are based on the ability of N-methyl-D-aspartate receptor (NMDAR) antagonists to induce schizophrenia-like symptoms, as well as emergent literature documenting disturbances of NMDAR-related gene expression and metabolic pathways in schizophrenia. Research over the past two decades has highlighted promising new targets for drug development based on potential pre- and postsynaptic, and glial mechanisms leading to NMDAR dysfunction. Reduced NMDAR activity on inhibitory neurons leads to disinhibition of glutamate neurons increasing synaptic activity of glutamate, especially in the prefrontal cortex. Based on this mechanism, normalizing excess glutamate levels by metabotropic glutamate group 2/3 receptor agonists has led to potential identification of the first non-monoaminergic target with comparable efficacy as conventional antipsychotic drugs for treating positive and negative symptoms of schizophrenia. In addition, NMDAR has intrinsic modulatory sites that are active targets for drug development, several of which show promise in preclinical/early clinical trials targeting both symptoms and cognition. To date, most studies have been done with orthosteric agonists and/or antagonists at specific sites. However, allosteric modulators, both positive and negative, may offer superior efficacy with less danger of downregulation. Neuropsychopharmacology Reviews (2012) 37, 4-15; doi: 10.1038/npp.2011.181; published online 28 September 2011 C1 [Moghaddam, Bita] Univ Pittsburgh, Dept Neurosci & Psychiat, Pittsburgh, PA 15260 USA. [Javitt, Daniel] NYU, Sch Med, Nathan S Kline Inst Psychiat Res, Dept Psychiat & Neurosci, Orangeburg, NY USA. RP Moghaddam, B (reprint author), Univ Pittsburgh, Dept Neurosci & Psychiat, A210 Langley Hall, Pittsburgh, PA 15260 USA. EM bita@pitt.edu FU Pittsburgh Life Sciences Greenhouse [R37 (MH48404), R01 (MH084906), R01DA03383, P50 MH086385]; National Institute of Mental Health; Pittsburgh Life Sciences Greenhouse; Pfizer; Roche; Jazz Pharmaceuticals FX Funded in part by grants R37 (MH48404), R01 (MH084906), Pittsburgh Life Sciences Greenhouse (Bita Moghaddam), and R01DA03383 and P50 MH086385 (Daniel Javitt). This work was supported by National Institute of Mental Health and the Pittsburgh Life Sciences Greenhouse.Bita Moghaddam declares no conflict of interest. Daniel Javitt holds intellectual property rights for use of glycine, D-serine, and glycine transport inhibitors in treatment of schizophrenia and equity interest in Glytech. 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BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0893-133X J9 NEUROPSYCHOPHARMACOL JI Neuropsychopharmacology PD JAN PY 2012 VL 37 IS 1 BP 4 EP 15 DI 10.1038/npp.2011.181 PG 12 WC Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 865EK UT WOS:000298293500002 PM 21956446 ER PT J AU Gross, C Berry-Kravis, EM Bassell, GJ AF Gross, Christina Berry-Kravis, Elizabeth M. Bassell, Gary J. TI Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond SO NEUROPSYCHOPHARMACOLOGY LA English DT Review DE FXS; FMRP; mGlu(1/5); autism spectrum disorders; clinical trials ID MENTAL-RETARDATION PROTEIN; LONG-TERM DEPRESSION; FMR1 KNOCKOUT MICE; METABOTROPIC GLUTAMATE RECEPTORS; AUTISM SPECTRUM DISORDERS; MESSENGER-RNA TRANSLATION; MOUSE MODEL; DENDRITIC SPINE; SYNAPTIC PLASTICITY; PHARMACOLOGICAL RESCUE AB Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function of the fragile X mental retardation protein (FMRP). In the absence of FMRP, signaling through group 1 metabotropic glutamate receptors is elevated and insensitive to stimulation, which may underlie many of the neurological and neuropsychiatric features of FXS. Treatment of FXS animal models with negative allosteric modulators of these receptors and preliminary clinical trials in human patients support the hypothesis that metabotropic glutamate receptor signaling is a valuable therapeutic target in FXS. However, recent research has also shown that FMRP may regulate diverse aspects of neuronal signaling downstream of several cell surface receptors, suggesting a possible new route to more direct disease-targeted therapies. Here, we summarize promising recent advances in basic research identifying and testing novel therapeutic strategies in FXS models, and evaluate their potential therapeutic benefits. We provide an overview of recent and ongoing clinical trials motivated by some of these findings, and discuss the challenges for both basic science and clinical applications in the continued development of effective disease mechanism-targeted therapies for FXS. Neuropsychopharmacology Reviews (2012) 37, 178-195; doi: 10.1038/npp.2011.137; published online 27 July 2011 C1 [Gross, Christina; Bassell, Gary J.] Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA. [Bassell, Gary J.] Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA. [Berry-Kravis, Elizabeth M.] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA. [Berry-Kravis, Elizabeth M.] Rush Univ, Med Ctr, Dept Neurol, Chicago, IL 60612 USA. [Berry-Kravis, Elizabeth M.] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA. RP Bassell, GJ (reprint author), Emory Univ, Sch Med, Dept Cell Biol, Whitehead Biomed Res Bldg 415,615 Michael St, Atlanta, GA 30322 USA. EM Elizabeth_m_berry-kravis@rush.edu; gary.bassell@emory.edu FU National Fragile X Foundation; NIH [MH085617]; Fragile X Center [3P30HD024064]; Neuropharm LTD; Seaside Therapeutics; Novartis Pharmaceuticals; Roche Pharmaceuticals FX We thank Sharon Swanger for helpful discussions and critically reading the manuscript. This work was supported by a postdoctoral fellowship and Conquer Fragile X research grant from the National Fragile X Foundation (to CG), the NIH Grant MH085617 (to GJB), and the Fragile X Center Grant 3P30HD024064 (to GJB).EMB-K has served as a consultant and has received funding for clinical trials from Neuropharm LTD, Seaside Therapeutics, Novartis Pharmaceuticals, and Roche Pharmaceuticals. GJB and CG declare no conflict of interest. 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Neuropsychopharmacology PD JAN PY 2012 VL 37 IS 1 BP 178 EP 195 DI 10.1038/npp.2011.137 PG 18 WC Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 865EK UT WOS:000298293500010 PM 21796106 ER PT J AU Veenstra-VanderWeele, J Blakely, RD AF Veenstra-VanderWeele, Jeremy Blakely, Randy D. TI Networking in Autism: Leveraging Genetic, Biomarker and Model System Findings in the Search for New Treatments SO NEUROPSYCHOPHARMACOLOGY LA English DT Review DE translation; mGluR5; FMR1; glutamate; serotonin transporter; genetics ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS; HUMAN SEROTONIN TRANSPORTER; EPILEPTIFORM EEG ABNORMALITIES; HOMEOBOX-TRANSCRIPTION-FACTOR; ACTIVATED PROTEIN-KINASE; A(3) ADENOSINE RECEPTORS; TUBEROUS SCLEROSIS GENE; MGLUR5 ANTAGONIST MPEP; WHOLE-BLOOD SEROTONIN AB Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder affecting approximately 1% of children. ASD is defined by core symptoms in two domains: negative symptoms of impairment in social and communication function, and positive symptoms of restricted and repetitive behaviors. Available treatments are inadequate for treating both core symptoms and associated conditions. Twin studies indicate that ASD susceptibility has a large heritable component. Genetic studies have identified promising leads, with converging insights emerging from single-gene disorders that bear ASD features, with particular interest in mammalian target of rapamycin (mTOR)-linked synaptic plasticity mechanisms. Mouse models of these disorders are revealing not only opportunities to model behavioral perturbations across species, but also evidence of postnatal rescue of brain and behavioral phenotypes. An intense search for ASD biomarkers has consistently pointed to elevated platelet serotonin (5-HT) levels and a surge in brain growth in the first 2 years of life. Following a review of the diversity of ASD phenotypes and its genetic origins and biomarkers, we discuss opportunities for translation of these findings into novel ASD treatments, focusing on mTor- and 5-HT-signaling pathways, and their possible intersection. Paralleling the progress made in understanding the root causes of rare genetic syndromes that affect cognitive development, we anticipate progress in models systems using bona fide ASD-associated molecular changes that have the potential to accelerate the development of ASD diagnostics and therapeutics. Neuropsychopharmacology Reviews (2012) 37, 196-212; doi: 10.1038/npp.2011.185; published online 21 September 2011 C1 [Veenstra-VanderWeele, Jeremy; Blakely, Randy D.] Vanderbilt Univ, Sch Med, Ctr Mol Neurosci, Nashville, TN 37232 USA. [Veenstra-VanderWeele, Jeremy; Blakely, Randy D.] Vanderbilt Univ, Sch Med, Dept Psychiat, Nashville, TN 37232 USA. [Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Sch Med, Dept Pediat, Nashville, TN 37232 USA. [Veenstra-VanderWeele, Jeremy; Blakely, Randy D.] Vanderbilt Univ, Sch Med, Dept Pharmacol, Nashville, TN 37232 USA. RP Blakely, RD (reprint author), Vanderbilt Univ, Sch Med, Ctr Mol Neurosci, 6133 Med Res Bldg 3,Suite 7140,MRB3, Nashville, TN 37232 USA. EM randy.blakely@vanderbilt.edu FU NIH [MH081066, MH094604, MH078028, MH094527, HD065278]; Seaside Therapeutics; Roche Pharmaceuticals; Novartis; Forest Pharmaceuticals FX We thank Nicholas Campbell for assistance with illustrations and the NIH for the awards MH081066 and MH094604 to JVV, and MH078028, MH094527, and HD065278 to RDB.Dr Veenstra-VanderWeele has received research funding from Seaside Therapeutics, Roche Pharmaceuticals, and Novartis. RDB has received research funding from Forest Pharmaceuticals, and serves on the Lundbeck Pharmaceuticals Advisory Board and as a consultant to JubilantInnovation. 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EM crawleyj@mail.nih.gov CR Ehninger D, 2008, NEURON, V60, P950, DOI 10.1016/j.neuron.2008.12.007 Reichow B, 2010, J AUTISM DEV DISORD, V40, P149, DOI 10.1007/s10803-009-0842-0 Silverman JL, 2010, NEUROPSYCHOPHARMACOL, V35, P976, DOI 10.1038/npp.2009.201 Vismara LA, 2010, ANNU REV CLIN PSYCHO, V6, P447, DOI 10.1146/annurev.clinpsy.121208.131151 Yang M, 2011, AUTISM RES, V4, P17, DOI 10.1002/aur.163 Yang M, 2007, INT J DEV NEUROSCI, V25, P515, DOI 10.1016/j.ijdevneu.2007.09.008 NR 6 TC 0 Z9 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0893-133X J9 NEUROPSYCHOPHARMACOL JI Neuropsychopharmacology PD JAN PY 2012 VL 37 IS 1 BP 300 EP 301 DI 10.1038/npp.2011.168 PG 3 WC Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 865EK UT WOS:000298293500026 PM 22157866 ER PT J AU Sawicka, K Zukin, RS AF Sawicka, Kirsty Zukin, R. Suzanne TI Dysregulation of mTOR Signaling in Neuropsychiatric Disorders: Therapeutic Implications SO NEUROPSYCHOPHARMACOLOGY LA English DT Editorial Material ID FRAGILE-X-SYNDROME; AUTISM C1 [Sawicka, Kirsty; Zukin, R. Suzanne] Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, New York, NY USA. RP Sawicka, K (reprint author), Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, New York, NY USA. EM suzanne.zukin@einstein.yu.edu CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346 Darnell JC, 2011, CELL, V146, P247, DOI 10.1016/j.cell.2011.06.013 Ehninger D, 2008, NAT MED, V14, P843, DOI 10.1038/nm1788 Gross C, 2010, J NEUROSCI, V30, P10624, DOI 10.1523/JNEUROSCI.0402-10.2010 Sharma A, 2010, J NEUROSCI, V30, P694, DOI 10.1523/JNEUROSCI.3696-09.2010 Zhou J, 2009, J NEUROSCI, V29, P1773, DOI 10.1523/JNEUROSCI.5685-08.2009 NR 6 TC 6 Z9 6 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0893-133X J9 NEUROPSYCHOPHARMACOL JI Neuropsychopharmacology PD JAN PY 2012 VL 37 IS 1 BP 305 EP 306 DI 10.1038/npp.2011.210 PG 3 WC Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 865EK UT WOS:000298293500031 PM 22157871 ER PT J AU Sylwester, K Lyons, M Buchanan, C Nettle, D Roberts, G AF Sylwester, Karolina Lyons, Minna Buchanan, Claire Nettle, Daniel Roberts, Gilbert TI The role of Theory of Mind in assessing cooperative intentions SO PERSONALITY AND INDIVIDUAL DIFFERENCES LA English DT Article DE Cooperation; Cheater detection; Theory of Mind; Facial expression ID THEORY-OF-MIND; DECEPTION; AUTISM; CUES; PERSPECTIVE AB Folk wisdom indicates that people vary in the extent to which they can assess others' cooperative intentions. In two studies we investigated whether Theory of Mind (TOM), the ability to represent mental states of others, is related to accuracy in the recognition of cooperativeness. Participants completed a ToM task and were asked to assess either video clips of people playing a variation of a Prisoner's Dilemma (PD) game (Study 1, N = 88), or photographs of people playing PD taken at the very moment when they were expressing a decision to cooperate or to defect (Study 2, N = 99). We found relationships between ToM and cooperative intention recognition only in Study 1, when participants were exposed to long versions of the video clips. In contrast to previous reports, participants in our samples did not score higher than chance in cooperativeness assessment except for Study 1 in the condition with short video clips. Our results question human expertise at identifying defectors and cooperators and do not provide clear support for an association between ToM and cooperativeness assessment. The findings are discussed from the perspective of an evolutionary arms race between interpreting and masking cooperative intentions. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Sylwester, Karolina; Nettle, Daniel; Roberts, Gilbert] Newcastle Univ, Ctr Behav & Evolut, Inst Neurosci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England. [Lyons, Minna] Liverpool Hope Univ, Dept Psychol, Liverpool L16 9JD, Merseyside, England. [Buchanan, Claire] Univ Liverpool, Sch Biol Sci, Liverpool L69 7ZB, Merseyside, England. RP Sylwester, K (reprint author), Univ Bath, Dept Comp Sci, Bath BA2 7AY, Avon, England. EM karolina.sylwester@gmail.com RI Nettle, Daniel/B-2259-2008 OI Nettle, Daniel/0000-0001-9089-2599 CR Bar M, 2006, EMOTION, V6, P269, DOI 10.1037/1528-3542.6.2.269 Baron-Cohen S, 2001, J CHILD PSYCHOL PSYC, V42, P241, DOI 10.1017/S0021963001006643 Bond CF, 2006, PERS SOC PSYCHOL REV, V10, P214 Boone T. R., 2003, J NONVERBAL BEHAV, V27, P163, DOI DOI 10.1023/A:1025341931128 Brown W. 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J., 2010, SPLIT STEAL COOPERAT Verplaetse J, 2007, EVOL HUM BEHAV, V28, P260, DOI 10.1016/j.evolhumbehav.2007.04.006 Vrij A, 2004, GROUP DECIS NEGOT, V13, P61, DOI 10.1023/B:GRUP.0000011946.74290.bc Zebrowitz LA, 1996, PERS SOC PSYCHOL B, V22, P1258, DOI 10.1177/01461672962212006 NR 34 TC 3 Z9 4 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0191-8869 J9 PERS INDIV DIFFER JI Pers. Individ. Differ. PD JAN PY 2012 VL 52 IS 2 BP 113 EP 117 DI 10.1016/j.paid.2011.09.005 PG 5 WC Psychology, Social SC Psychology GA 868KT UT WOS:000298522900001 ER PT J AU Milne, S McDonald, J Comino, EJ AF Milne, Susan McDonald, Jenny Comino, Elizabeth J. TI The Use of the Bayley Scales of Infant and Toddler Development III with Clinical Populations: A Preliminary Exploration SO PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS LA English DT Article DE Autism; infant development; perceptual-cognitive development; pervasive developmental disorders; psychometric testing ID GAINS; IQ AB In response to concerns that the Bayley Scales of Infant and Toddler Development III (BSIDIII) underestimate delay in clinical populations, this study explores developmental quotient scores as an alternative to composite scores for these children. One hundred and twenty-two children aged <= 42 months, referred for diagnosis of developmental disability from January 2007 to May 2010, were assessed, and their composite and developmental quotient scores on each scale were compared. Composite scores identified only 22% (cognitive), 27% (motor), and 47.5% (language) of children as having a developmental disability. Developmental quotient scores were significantly lower than composite scores, giving rates of developmental disability of 56.6% (cognitive), 48.4% (motor), and 74.6% (language) and more closely matching both clinical impressions of delay and the proportions of those children who were also delayed on standardized tests of adaptive function. C1 [Milne, Susan] Campbelltown Hosp, Paediat Alied Hlth Unit, Child Assessment Team, Campbelltown, NSW 2560, Australia. [McDonald, Jenny] Campbelltown Hosp, Dept Paediat, Campbelltown, NSW 2560, Australia. [Comino, Elizabeth J.] Univ New S Wales, Ctr Hlth Equ Training Res & Evaluat, Liverpool, NSW, Australia. [Comino, Elizabeth J.] Univ New S Wales, Ctr Primary Hlth Care & Equ, Liverpool, NSW, Australia. RP Milne, S (reprint author), Campbelltown Hosp, Paediat Alied Hlth Unit, Child Assessment Team, POB 149, Campbelltown, NSW 2560, Australia. EM susan.milne@sswahs.nsw.gov.au CR American Educational Research Association American Psychological Association National Council on Measurement in Education Joint Committee on Standards for Educational and Psychological Testing (U.S.), 1999, STAND ED PSYCH TEST American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Anderson PJ, 2010, ARCH PEDIAT ADOL MED, V164, P352, DOI 10.1001/archpediatrics.2010.20 Australian Bureau of Statistics, 2006, 2039 0 INF PAP INTR Bayley N, 2006, BAYLEY SCALES INFANT, V3rd Bayley N, 2003, BAYLEY SCALES INFANT Demeter K, 2000, EUR CHILD ADOLES PSY, V9, P227 FLYNN JR, 1987, PSYCHOL BULL, V101, P171, DOI 10.1037/0033-2909.101.2.171 FLYNN JR, 1984, PSYCHOL BULL, V95, P29, DOI 10.1037//0033-2909.95.1.29 Harrison P., 2003, ADAPTIVE BEHAV ASSES, V2nd Hickey A, 2000, AUSTR OCCUPATIONAL T, V47, P86, DOI DOI 10.1046/J.1440-1630.2000.00210.X Kamieniecki GW, 2002, AUST J PSYCHOL, V54, P67, DOI 10.1080/00049530210001706523 Luiz D, 2006, ADM MANUAL GRIFFITHS Luiz D., 2006, GRIFFITHS MENTAL DEV Milne L, 2009, INFANT BEHAV DEV, V32, P159, DOI 10.1016/j.infbeh.2008.12.006 Msall ME, 2010, ARCH PEDIAT ADOL MED, V164, P391, DOI 10.1001/archpediatrics.2010.25 *PEARS ED INC, 2008, 1 PEARS ED INC *PEARS ED INC, 2008, 2 PEARS ED INC Wilkins C., 2005, 2005 ANN M AM ED RES NR 19 TC 6 Z9 6 PU INFORMA HEALTHCARE PI LONDON PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND SN 0194-2638 J9 PHYS OCCUP THER PEDI JI Phys. Occup. Ther. Pediatr. PY 2012 VL 32 IS 1 BP 24 EP 33 DI 10.3109/01942638.2011.592572 PG 10 WC Pediatrics; Rehabilitation SC Pediatrics; Rehabilitation GA 874AK UT WOS:000298927200004 PM 21812743 ER PT J AU Kramer, JM Coster, WJ Kao, YC Snow, A Orsmond, GI AF Kramer, Jessica M. Coster, Wendy J. Kao, Ying-Chia Snow, Anne Orsmond, Gael I. TI A New Approach to the Measurement of Adaptive Behavior: Development of the PEDI-CAT for Children and Youth with Autism Spectrum Disorders SO PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS LA English DT Article DE Adaptive behavior; computer adaptive testing; measurement ID DISABILITY INVENTORY; PEDIATRIC EVALUATION; TESTING VERSION AB The use of current adaptive behavior measures in practice and research is limited by their length and need for a professional interviewer. There is a need for alternative measures that more efficiently assess adaptive behavior in children and youth with autism spectrum disorders (ASDs). The Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT) is a computer-based assessment of a child's ability to perform activities required for personal self-sufficiency and engagement in the community. This study evaluated the applicability, representativeness, and comprehensiveness of the Daily Activity, Social/Cognitive, and Responsibility domains for children and youth with an ASD. Twenty professionals and 18 parents provided feedback via in-person or virtual focus groups and cognitive interviews. Items were perceived to represent relevant functional activities within each domain. Child factors and assessment characteristics influenced parents' ratings. In response to feedback, 15 items and additional directions were added to ensure the PEDI-CAT is a meaningful measure when used with this population. C1 [Kramer, Jessica M.; Coster, Wendy J.; Kao, Ying-Chia; Orsmond, Gael I.] Boston Univ, Dept Occupat Therapy, Boston, MA 02215 USA. [Snow, Anne] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA. RP Kramer, JM (reprint author), 635 Commonwealth Ave,SAR 512, Boston, MA 02215 USA. EM kramerj@bu.edu FU Eunice Kennedy Shriver National Institute of Child Health & Human Development [R21HD065281] FX The project described was supported by award number R21HD065281 from the Eunice Kennedy Shriver National Institute of Child Health & Human Development (PI: Coster). The content is solely the responsibility of the authors and does not necessarily represent the official views of the Eunice Kennedy Shriver National Institute of Child Health & Human Development or the National Institutes of Health. CR *AD SYST INC, 2010, SCAL IND BEH REV SIB Cher Ping L, 2001, J ED ENQUIRY, V2, P50 Coster WJ, 2008, ARCH PHYS MED REHAB, V89, P622, DOI 10.1016/j.apmr.2007.09.053 Dumas H, 2010, PHYS OCCUP THER PEDI, V30, P168, DOI 10.3109/01942631003640493 DUMAS H, DISABILITY IN PRESS Greenspan S, 1999, ADAPTIVE BEHAVIOR AND ITS MEASUREMENT, P61 Haley SM, 2005, ARCH PHYS MED REHAB, V86, P932, DOI 10.1016/j.apmr.2005.10.032 HALEY SM, 2010, ACCURACY PR IN PRESS Krueger Richard A., 2000, FOCUS GROUPS PRACTIC, V3rd Moloney MF, 2003, ADV NURS SCI, V26, P274 Morgan DL, 2007, J MIX METHOD RES, V1, P48, DOI 10.1177/2345678906292462 Oakland T., 2009, ASSESSING IMPAIRMENT, P31, DOI 10.1007/978-0-387-87542-2_4 Oringderff J, 2004, INT J QUAL METH, V3, P69 Patton M. Q, 2002, QUALITATIVE RES EVAL Sirken M. G., 1999, COGNITION SURVEY RES SPARROW SS, 2005, VINELAND ADAPTED BEH TANGIENT LLC, 2010, WIKISPACES Turney L., 2005, INT J QUAL METH, V4 Wainer H., 2000, COMPUTERIZED ADAPTIV, V2nd World Health Organisation, 2001, INT CLASS FUNCT DIS World Health Organization, 2008, INT CLASS FUNCT DIS NR 21 TC 4 Z9 4 PU INFORMA HEALTHCARE PI LONDON PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND SN 0194-2638 J9 PHYS OCCUP THER PEDI JI Phys. Occup. Ther. Pediatr. PY 2012 VL 32 IS 1 BP 34 EP 47 DI 10.3109/01942638.2011.606260 PG 14 WC Pediatrics; Rehabilitation SC Pediatrics; Rehabilitation GA 874AK UT WOS:000298927200005 PM 21846290 ER PT J AU Hildenbrand, HL Smith, ACM AF Hildenbrand, Hanna L. Smith, Ann C. M. TI Analysis of the Sensory Profile in Children with Smith-Magenis Syndrome SO PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS LA English DT Article DE sensory processing; sensory profile caregiver questionnaire; sensory modulation; Smith-Magenis syndrome ID SYNDROME DEL 17P11.2; BEHAVIORAL-PHENOTYPE; MALADAPTIVE BEHAVIOR; SPECTRUM; AUTISM; ABILITIES; GENOTYPE; DISORDER; FEATURES; ADULTS AB This study systematically assessed sensory processing in 34 children, aged 3-14 years, with Smith-Magenis syndrome (SMS) using the Sensory Profile Caregiver Questionnaire. Scores for the SMS cohort were significantly different from scores of the national sample of children with and without disabilities in all Sensory Profile categories and quadrants (p < .001). No main effects of age or gender were found, but an interaction effect of age by gender was found in Modulation of Sensory Input Affecting Emotional Responses, in which older females presented with the lowest scores. A significant decline over time was found in the Seeking pattern, reflecting increased vulnerability (p < .05). Nonsignificant trends suggest more vulnerabilities for older versus younger children, especially older females. The neurobehavioral phenotype in children with SMS is expanded by this description of sensory processing. How children with SMS experience and respond to everyday sensations informs multidisciplinary team decisions. C1 [Hildenbrand, Hanna L.] NIH, Dept Rehabil Med, Bethesda, MD 20892 USA. [Smith, Ann C. M.] NIH, Off Clin Director, Human Genome Res Inst, Bethesda, MD 20892 USA. RP Hildenbrand, HL (reprint author), NIH, Dept Rehabil Med, 10 Ctr Dr,MSC 1604,Bldg 10CRC,Room 1-1469NE, Bethesda, MD 20892 USA. EM hhildenbrand@cc.nih.gov RI SMITH, ANN C.M./C-1122-2008 FU National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI); NIH Clinical Center FX This research was supported in part by the Intramural Research Program of the National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI), and a Bench-to-Bedside Award from the NIH Clinical Center to the Medical Genetics Branch of the NHGRI. The authors would like to thank Donna Krasnewich, MD, Wendy Introne, MD, and Bonnie Hodsdon, OTR/L, NIH Chief OT who supported our work on this study; Joanne E. Flanagan, MS, OTR/L for initial work on this study; Rebecca Morse, MA, for assistance with data entry; Elizabeth K. Rasch, PT, PhD, for data analysis; Captain Rebecca A. Parks, MS, OTR/L, BCP, FAOTA, and Maryanne Sacco-Peterson, MA, OTR/L, for internal reviewing; and the families who participated in this research. 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Occup. Ther. Pediatr. PY 2012 VL 32 IS 1 BP 48 EP 65 DI 10.3109/01942638.2011.572152 PG 18 WC Pediatrics; Rehabilitation SC Pediatrics; Rehabilitation GA 874AK UT WOS:000298927200006 PM 21599572 ER PT J AU Mayes, SD Calhoun, SL Aggarwal, R Baker, C Mathapati, S Anderson, R Petersen, C AF Mayes, Susan Dickerson Calhoun, Susan L. Aggarwal, Richa Baker, Courtney Mathapati, Santoshkumar Anderson, Robert Petersen, Christopher TI Explosive, oppositional, and aggressive behavior in children with autism compared to other clinical disorders and typical children SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Explosive; Oppositional; Aggressive; Autism; ADHD ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT-HYPERACTIVITY DISORDER; TRAUMATIC BRAIN-INJURY; IV ASPERGERS-DISORDER; DEFIANT DISORDER; YOUNG-CHILDREN; SPECTRUM DISORDER; PSYCHIATRIC-DISORDERS; PROCESSING SPEED; CONDUCT DISORDER AB Maternal ratings of explosiveness, opposition, and aggression were analyzed in 1609 children 6-16 years of age. Behavior problems were common in autism, ADHD-Combined type, and depression, whereas children with ADHD-Inattentive type, anxiety disorder, and acquired brain injury did not differ from typical controls. More than 40% of children with autism, ADHD-Combined type, and depression met criteria for oppositional-defiant disorder (ODD), and less than 15% did in the other groups. Male gender and low SES increased the risk of behavior problems, but correlations were small between behavior problems and age and IQ. Our findings have implications for new DSM-V diagnostic categories and criteria. The DSM-V needs to clarify whether or not an additional diagnosis of ODD should be made in children with autism who meet ODD criteria. The proposed DSM-V states that ADHD and temper dysregulation disorder with dysphoria not be diagnosed in autism, but does not mention ODD. Our study also suggests that diagnoses of temper dysregulation disorder with dysphoria and prepubertal bipolar disorder may be redundant to a diagnosis of ODD. (C) 2011 Elsevier Ltd. All rights reserved. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 1 EP 10 DI 10.1016/j.rasd.2011.08.001 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400001 ER PT J AU Stephenson, J Carter, M Kemp, C AF Stephenson, Jennifer Carter, Mark Kemp, Coral TI Quality of the information on educational and therapy interventions provided on the web sites of national autism associations SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder; Interventions; Web sites; Parents; Teachers ID SPECTRUM DISORDERS; PARENTAL REPORTS; CHILDREN; STUDENTS AB Parents and teachers of children with autism spectrum disorders (ASD) are often presented with a confusing array of intervention options that vary considerably in their level of research support. Logical sources of information and guidance are the web sites of national autism associations. This research examined the quality of the information that is available on the web sites of national autism associations with regard to educational and therapy interventions. Rankings derived from current research evidence on interventions were compared with those available on web sites to determine whether or not this information was consistent with current research evidence and the stated aims of the organisations. Overall, these sites provided limited guidance for parents and teachers with regard to the selection of research-based interventions. Several options to improve the information available are discussed. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Stephenson, Jennifer; Carter, Mark; Kemp, Coral] Macquarie Univ, Macquarie Univ Special Educ Ctr, N Ryde, NSW 2109, Australia. RP Stephenson, J (reprint author), Macquarie Univ, Macquarie Univ Special Educ Ctr, N Ryde, NSW 2109, Australia. 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Beighley, Jennifer Turygin, Nicole TI Autism diagnosis and screening: Factors to consider in differential diagnosis SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Methodology; Diagnosis; Symptom monitoring ID SPECTRUM DISORDERS; SOCIAL-SKILLS; CHILDREN; ADULTS; SYMPTOMS; TODDLERS; BEHAVIOR; EPILEPSY AB There has been an exponential growth in assessment methods to diagnose disorders on the autism spectrum. Many reasons for this trend exist and include advancing knowledge on how to make a diagnosis, the heterogeneity of the spectrum, the realization that different methods may be needed based on age and intellectual disability. Other factors include the recognition that some testing will be for diagnosis, while other diagnostic work will be for identifying targets for intervention and for monitoring symptoms over time. Measures of co-occurring conditions that interface with measures of core symptoms are also needed and should aid in multidisciplinary treatment. In addition to these factors we discuss factors associated with observational data collection methods, length, and scoring of evaluations and the fallacy that a "gold standard" for diagnosis of autism exists or in fact is desirable. The implications of these data are discussed. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Matson, Johnny L.] LSU, Dept Psychol, Baton Rouge, LA 70803 USA. RP Matson, JL (reprint author), LSU, Dept Psychol, Baton Rouge, LA 70803 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 19 EP 24 DI 10.1016/j.rasd.2011.08.003 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400003 ER PT J AU Isenhower, RW Marsh, KL Richardson, MJ Helt, M Schmidt, RC Fein, D AF Isenhower, Robert W. Marsh, Kerry L. Richardson, Michael J. Helt, Molly Schmidt, R. C. Fein, Deborah TI Rhythmic bimanual coordination is impaired in young children with autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE ASD; Motor deficits; Bimanual coordination ID INTERPERSONAL COORDINATION; PHASE-TRANSITIONS; MOTOR DEVELOPMENT; JOINT ACTION; PATTERNS; INFANT; PERFORMANCE; DIAGNOSIS; MOVEMENT; DYNAMICS AB Impairments in motor coordination are a common behavioral manifestation of autism spectrum disorder (ASD). We, therefore, used a drumming methodology to examine rhythmic bimanual coordination in children diagnosed with ASD (M = 47.3 months) and age-matched typically developing (TD) children (M = 42.6 months). Both groups were instructed to drum on a pad in two required phases: in-phase (drumsticks striking the pad simultaneously) and anti-phase (drumsticks striking in alteration). Analysis revealed that TD children were more able than children with ASD to stay in the required phase relationships for both in-phase and anti-phase coordination. Movement variability was higher for children with ASD than TD children. Imitation ability of the ASD group was somewhat related to their performance on the task. We discuss the implications that deficits in bimanual (intra-personal) coordination may have for social and interpersonal coordination in children with ASD. Published by Elsevier Ltd. C1 [Isenhower, Robert W.; Marsh, Kerry L.] Univ Connecticut, Ctr Ecol Study Percept & Act, Storrs, CT 06269 USA. [Isenhower, Robert W.; Marsh, Kerry L.; Helt, Molly; Fein, Deborah] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA. [Richardson, Michael J.] Univ Cincinnati, Dept Psychol, Cincinnati, OH 45221 USA. RP Isenhower, RW (reprint author), Rutgers State Univ, Dept Psychol, Busch Campus,152 Frelinghuysen Rd, Piscataway, NJ 08854 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 25 EP 31 DI 10.1016/j.rasd.2011.08.005 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400004 ER PT J AU Cummings, AR Carr, JE LeBlanc, LA AF Cummings, Anne R. Carr, James E. LeBlanc, Linda A. TI Experimental evaluation of the training structure of the Picture Exchange Communication System (PECS) SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Alternative and augmentative communication; Autism; Picture Exchange Communication System ID AUTISM SPECTRUM DISORDERS; SPEECH DEVELOPMENT; CHILDREN; METAANALYSIS AB The Picture Exchange Communication System (PECS) is a picture-based alternative communication method that is widely accepted and utilized with individuals with disabilities. Although prior studies have examined the clinical efficacy of PECS, none have experimentally evaluated its manualized training structure. We experimentally evaluated the effects of training during each of the 6 phases of PECS with 7 children with developmental or language disorders. For all 7 participants, PECS responses consistently increased only after training was completed for each of the first 4 phases, but increases in PECS responses occurred during tests of Phases Sand 6 as soon as training was completed in Phase 4. Consistent with prior research, PECS was taught in a short period of time and required few prerequisite skills. However, 3 of the 7 participants had difficulty with some aspects of training and were able to acquire the targeted skills only after procedural modifications were made. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Cummings, Anne R.] Kinark Child & Family Serv, Markham, ON L3R 0E7, Canada. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 32 EP 45 DI 10.1016/j.rasd.2011.08.006 PG 14 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400005 ER PT J AU Sowa, M Meulenbroek, R AF Sowa, Michelle Meulenbroek, Ruud TI Effects of physical exercise on Autism Spectrum Disorders: A meta-analysis SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism Spectrum Disorder; Meta-analysis; Physical exercise; Sport ID ANTECEDENT EXERCISE; AEROBIC EXERCISE; CHILDREN; BEHAVIORS; PROGRAM; SKILLS; DISABILITIES; INDIVIDUALS; ADOLESCENTS; ENGAGEMENT AB It is generally agreed that regular physical exercise promotes physical and mental health, but what are the benefits in people with Autism Spectrum Disorders (ASD)? This meta-analysis evaluates 16 behavioural studies reporting on a total of 133 children and adults with various variants of the syndrome who were offered structured physical activities either in an individual or a group context. The effects on social and motor deficiencies, two of the three primary symptom clusters of ASD, were normalized to afford a quantitative evaluation. Results pertaining to communication deficits were insufficient to permit classification. All activity programmes yielded significant progress on the measures assessed, but the individual programmes elicited significantly more improvement than the group interventions in the motor and, more surprisingly, also in the social domain. Although overall sample sizes were small, the combined results do permit the tentative conclusion that in terms of motor performance and social skills children and adults with ASD benefit most from individual exercise interventions. Further research of the impact of individual and group interventions on communication deficits in particular as well as studies gauging the extent to which exercise effects depend on ASD symptom severity are warranted. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Meulenbroek, Ruud] Radboud Univ Nijmegen, Ctr Cognit, Donders Inst Brain Cognit & Behav, NL-6500 HE Nijmegen, Netherlands. RP Meulenbroek, R (reprint author), Radboud Univ Nijmegen, Ctr Cognit, Donders Inst Brain Cognit & Behav, POB 9104, NL-6500 HE Nijmegen, Netherlands. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 46 EP 57 DI 10.1016/j.rasd.2011.09.001 PG 12 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400006 ER PT J AU Kanai, C Tani, M Hashimoto, R Yamada, T Ota, H Watanabe, H Iwanami, A Kato, N AF Kanai, Chieko Tani, Masayuki Hashimoto, Ryuichiro Yamada, Takashi Ota, Haruhisa Watanabe, Hiromi Iwanami, Akira Kato, Nobumasa TI Cognitive profiles of adults with Asperger's disorder, high-functioning autism, and pervasive developmental disorder not otherwise specified based on the WAIS-III SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Asperger's disorder (AS); High-functioning autism (HFA); Pervasive developmental disorder not otherwise specified (PDDNOS); Wechsler Intelligence Scale III (WAIS-III) ID SPECTRUM QUOTIENT AQ; PDD-NOS; CHILDREN; DIAGNOSIS; MALES AB Little is known about the cognitive profiles of high-functioning Pervasive Developmental Disorders (PDD) in adults based on the Wechsler Intelligence Scale III (WAIS-III). We examined cognitive profiles of adults with no intellectual disability (IQ > 70), and in adults with Asperger's disorder (AS; n = 47), high-functioning autism (HFA; n = 24), and pervasive developmental disorder not otherwise specified (PDDNOS; n = 51) using the WAIS-III. Verbal Intelligence (VIQ)-Performance Intelligence (PIQ) differences were detected between the three groups. Full Intelligence (FIQ) and VIQ scores were significantly higher in AS than in HFA and PDDNOS. Vocabulary, Information, and Comprehension subtest scores in the Verbal Comprehension index were significantly higher in AS than in the other subgroups, while Digit-Symbol Coding and Symbol Search subtest scores in the Processing Speed index were significantly lower in HFA. The findings demonstrated cognitive profiles characteristic of adults with high-functioning PDD. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Kanai, Chieko; Tani, Masayuki; Hashimoto, Ryuichiro; Yamada, Takashi; Ota, Haruhisa; Watanabe, Hiromi; Kato, Nobumasa] Showa Univ, Karasuyama Hosp, Dept Psychiat, Setagaya Ku, Tokyo 1578577, Japan. [Iwanami, Akira] Showa Univ, Sch Med, Dept Psychiat, Shinagawa Ku, Tokyo 1428655, Japan. RP Kanai, C (reprint author), Showa Univ, Karasuyama Hosp, Dept Psychiat, Setagaya Ku, 6-11-11 Kitakarasuyama, Tokyo 1578577, Japan. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 58 EP 64 DI 10.1016/j.rasd.2011.09.004 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400007 ER PT J AU Dunkel-Jackson, SM Dixon, MR Szekely, S AF Dunkel-Jackson, Sarah M. Dixon, Mark R. Szekely, Susan TI Portable data assistants: Potential in evidence-based practice autism treatment SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Personal digital assistant; Staff training; Technology; Data collection; Autism spectrum disorders ID DATA-COLLECTION; POCKET PC; STAFF AB The emerging era of "evidence-based practice" emphasizes that human service agencies need to find effective and efficient means of training staff and implementing systems change based on scientific evidence. Additional advancements in technology use across populations and settings within the field have also served as a catalyst for the development of contemporary staff training techniques. Therefore, the purpose of the current study was to train management-level staff employed at an agency for individuals diagnosed with autism spectrum disorders to collect agency-wide data using personal digital assistant (PDA) data collection systems. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Dixon, Mark R.] So Illinois Univ, Behaivor Anal & Therapy Program, Carbondale, IL 62901 USA. [Szekely, Susan] Illinois Ctr Autism, Fairview Hgts, IL USA. RP Dixon, MR (reprint author), So Illinois Univ, Behaivor Anal & Therapy Program, Carbondale, IL 62901 USA. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 65 EP 72 DI 10.1016/j.rasd.2011.06.004 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400008 ER PT J AU Mouridsen, SE AF Mouridsen, Svend Erik TI Current status of research on autism spectrum disorders and offending SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism spectrum disorders; Offending; Review ID PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGERS-SYNDROME; NEUROPSYCHIATRIC DISORDERS; CRIMINAL BEHAVIOR; VIOLENCE; PREVALENCE; INTERVIEW; CHILDREN; JUVENILE; INDIVIDUALS AB An emerging literature on autism spectrum disorders (ASD) and offending has highlighted that these disorders are at times associated with criminal behaviour. Ghaziuddin et al. (1991) reviewed the published literature on this topic from 1944 to 1990 and concluded that there was no clear link between Asperger syndrome (AS) and violent crime. They suggested that people with AS hardly were more likely to commit violent crime than the rest of the population. The present review provides an update on the issues in the earlier review mentioned and presents new issues that have emerged in the past two decades. Currently, there is still no body of evidence to suppose that people with ASD are more prone to commit offences than anyone else. However, a small number of serious crimes can be linked to the core features of ASD. Co-morbid psychiatric disorders are important risk factors for offending in people with ASD. Studies of referred samples have suggested considerable differences in offending among subgroups of people with ASD. Offending has rarely been reported in childhood autism, but is more common in atypical autism (AA) and AS. Literature suggests that people with ASD are potentially overrepresented within the criminal justice system, and that failure to detect ASD among offenders is not uncommon. Insofar as people with AA and AS have offended, it has typically been connected with arson and sexual abuse. But due to lack of valid community based studies of offending relating to people with ASD, these findings must be interpreted with caution. (C) 2011 Elsevier Ltd. All rights reserved. C1 Bispebjerg Hosp, Child & Adolescent Psychiat Ctr, DK-2400 Copenhagen, Denmark. RP Mouridsen, SE (reprint author), Bispebjerg Hosp, Child & Adolescent Psychiat Ctr, DK-2400 Copenhagen, Denmark. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 79 EP 86 DI 10.1016/j.rasd.2011.09.003 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400010 ER PT J AU Miller, VA Schreck, KA Mulick, JA Butter, E AF Miller, Victoria A. Schreck, Kimberly A. Mulick, James A. Butter, Eric TI Factors related to parents' choices of treatments for their children with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Treatment choice; Autism; Treatment referrals; Autism treatment; Parent treatment choice; Treatment dissemination ID YOUNG-CHILDREN; BEHAVIOR; BELIEFS AB The history of autism treatment has been plagued with fad therapies which waste parents' and children's time, energy, and money. To determine if referral sources, such as professionals' recommendations, media, or scholarly sources, have influenced parents' treatment decisions, parents of at least one child with an autism spectrum disorder (N = 400) were surveyed to determine the sources they used to obtain treatment. Recommendations from professionals in non-medical fields and autism books were the most popular sources of information. Due to the diverse range of influences on parents' treatment decisions, a multifaceted dissemination strategy for the most effective therapies is warranted. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Miller, Victoria A.; Schreck, Kimberly A.] Penn State Univ Harrisburg, Middletown, PA 17057 USA. [Mulick, James A.; Butter, Eric] Ohio State Univ, Westerville, OH 43081 USA. [Mulick, James A.; Butter, Eric] Nationwide Childrens Hosp, Westerville, OH 43081 USA. RP Schreck, KA (reprint author), Penn State Univ Harrisburg, W311 Olmsted Bldg,777 W Harrisburg Pike, Middletown, PA 17057 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 87 EP 95 DI 10.1016/j.rasd.2011.03.008 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400011 ER PT J AU Pandolfi, V Magyar, CI Dill, CA AF Pandolfi, Vincent Magyar, Caroline I. Dill, Charles A. TI An initial psychometric evaluation of the CBCL 6-18 in a sample of youth with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE CBCL; Child Behavior Checklist; Autism spectrum disorder; Reliability; Validity; Psychometrics ID ABERRANT BEHAVIOR CHECKLIST; COVARIANCE STRUCTURE-ANALYSIS; CONFIRMATORY FACTOR-ANALYSIS; PSYCHIATRIC-SYMPTOMS; ASPERGER-SYNDROME; RATING FORM; CHILDREN; IDENTIFICATION; PDD; INDIVIDUALS AB Individuals with an autism spectrum disorder (ASD) often present with co-occurring emotional and behavioral disorders (EBD). The Child Behavior Checklist 6-18 (CBCL: Achenbach & Rescorla, 2001) is an EBD measure that contains several norm-referenced scales derived through factor analysis of data from the general pediatric population. The psychometric properties of this widely used and well-researched measure have not been evaluated in samples of youth with ASD. This study evaluated the CBCL's internal structure, scale reliability, criterion-related validity, and diagnostic accuracy using archival data from a well-characterized sample of youth with ASD (N = 122). Confirmatory factor analyses supported the unidimensionality of the CBCL's syndrome scales and its internalizing-externalizing factor structure. Significance tests indicated that many scales discriminated between two subgroups: a group of individuals with ASD + EBD and a group with ASD alone. Diagnostic accuracy analyses indicated that the CBCL had good sensitivity but low specificity for detecting co-occurring disorders. 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Y., 2002, THESIS U CALIFORNIA NR 82 TC 13 Z9 13 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 96 EP 108 DI 10.1016/j.rasd.2011.03.009 PG 13 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400012 ER PT J AU Kooistra, ET Buchmeier, AL Klatt, KP AF Kooistra, Elizabeth T. Buchmeier, Amanda L. Klatt, Kevin P. TI The effect of motivating operations on the transfer from tacts to mands for children diagnosed with autism SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Motivating operations; Tact; Mand; Autism ID BEHAVIOR AB This study examined the effect of motivating operations (MO) on the emergence of a mand following tact training. Two children with autism were taught to tact a high-preferred (HP) edible identified through a preference assessment. The children were then tested to see if a mand for the HP edible emerged under deprivation (24+ h) and pre-session exposure (immediately prior to the mand test) test conditions. Following tact training, both participants manded for the HP edible in the deprivation condition but little to no responding occurred in the pre-session exposure condition. The results from this study suggest that a tact-to-mand transfer may occur under certain conditions. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Kooistra, Elizabeth T.; Buchmeier, Amanda L.; Klatt, Kevin P.] Univ Wisconsin, Dept Psychol, Eau Claire, WI 54702 USA. RP Klatt, KP (reprint author), Univ Wisconsin, Dept Psychol, 105 Garfield Ave, Eau Claire, WI 54702 USA. EM kooistet@siu.edu; buchmeal@uwec.edu; klattkp@uwec.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT BARLOW DH, 1979, J APPL BEHAV ANAL, V12, P199, DOI 10.1901/jaba.1979.12-199 CARR EG, 1985, J APPL BEHAV ANAL, V18, P111, DOI 10.1901/jaba.1985.18-111 DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 Hall G, 1987, Anal Verbal Behav, V5, P41 LAMARRE J, 1985, J EXP ANAL BEHAV, V43, P5, DOI 10.1901/jeab.1985.43-5 SIGAFOOS J, 1990, RES DEV DISABIL, V11, P165, DOI 10.1016/0891-4222(90)90033-5 SIGAFOOS J, 1989, RES DEV DISABIL, V10, P183, DOI 10.1016/0891-4222(89)90006-1 Skinner B. F., 1957, VERBAL BEHAV Snell M. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 109 EP 114 DI 10.1016/j.rasd.2011.03.010 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400013 ER PT J AU Fu, CP Chen, KL Tseng, MH Chiang, FM Hsieh, CL AF Fu, Chung-Pei Chen, Kuan-Lin Tseng, Mei-Hui Chiang, Fu-Mei Hsieh, Ching-Lin TI Reliability and validity of the Psychoeducational Profile-third edition Caregiver Report in children with Autism Spectrum Disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Psychoeducational Profile-third edition; Caregiver Report; Autism Spectrum Disorders; Internal consistency; Inter-respondent reliability; Convergent validity ID QUALITY AB The aim of this study was to examine the internal consistency, inter-respondent reliability, and convergent and divergent validity of the Psychoeducational Profile-third edition Caregiver Report (PEP3-CR) in children with Autism Spectrum Disorders (ASD). We examined the internal consistency on 66 mothers of children with ASD who completed the PEP3-CR. Inter-respondent reliability was examined on 46 pairs of mothers and fathers who completed the PEP3-CR independently within one week. Moreover, 64 children were administered the Psychoeducational Profile-third edition Performance Test (PEP3-PT) and 20 children and their parents were administered the Childhood Autism Rating Scale (CARS) and the Vineland Adaptive Behavior Scale (VABS) to examine the convergent and divergent validity of the PEP3-CR. The Cronbach's alpha of the PEP3-CR subtests, ranging from 0.83 to 0.85, indicated sufficient internal consistency. The intra-class correlation coefficient (ICC) of the two parents, ranging from 0.66 to 0.79, indicated moderate inter-respondent reliability. The correlations between the PEP3-PT, CARS, VABS and the PEP3-CR supported the convergent and divergent validity of the PEP3-CR. Therefore, the PEP3-CR is a reliable and valid caregiver report for assessing adaptive functioning and autistic behaviors in children with ASD. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Chen, Kuan-Lin; Tseng, Mei-Hui; Hsieh, Ching-Lin] Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, Taipei 10055, Taiwan. [Fu, Chung-Pei] Fu Jen Catholic Univ, Coll Med, Dept Occupat Therapy, New Taipei, Taiwan. [Tseng, Mei-Hui; Chiang, Fu-Mei; Hsieh, Ching-Lin] Natl Taiwan Univ Hosp, Dept Phys Med & Rehabil, Taipei, Taiwan. RP Hsieh, CL (reprint author), Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, 17 Xu Zhou Rd, Taipei 10055, Taiwan. EM clhsieh@ntu.edu.tw CR *AM ED RES ASS, 1999, NAT COUNC MEAS ED American Psychiatric Association, 2000, DIAGN STAT MAN MENT Case-Smith J., 2010, OCCUPATIONAL THERAPY CRONBACH LJ, 1951, PSYCHOMETRIKA, V16, P297 DeVincent CJ, 2007, J CHILD NEUROL, V22, P161, DOI 10.1177/0883073807300310 Filipek PA, 2000, NEUROLOGY, V55, P468 Fu CP, 2010, RES AUTISM SPECT DIS, V4, P89, DOI 10.1016/j.rasd.2009.09.002 George D, 2003, SPSS WINDOWS STEP ST, V4th Hughes JR, 2009, EPILEPSY BEHAV, V16, P569, DOI 10.1016/j.yebeh.2009.09.023 Lohr KN, 1996, CLIN THER, V18, P979, DOI 10.1016/S0149-2918(96)80054-3 NUNALLY JC, 1978, PSYCHOMETRIC THEORY, V2, P248 Ozonoff S, 2005, J CLIN CHILD ADOLESC, V34, P523, DOI 10.1207/s15374424jccp3403_8 Pituch KA, 2011, RES AUTISM SPECT DIS, V5, P135, DOI 10.1016/j.rasd.2010.03.003 Portney L. 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D., 2004, VINELAND ADAPTIVE BE NR 30 TC 2 Z9 2 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 115 EP 122 DI 10.1016/j.rasd.2011.03.011 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400014 ER PT J AU Diehl, JJ Paul, R AF Diehl, Joshua John Paul, Rhea TI Acoustic differences in the imitation of prosodic patterns in children with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Imitation; Prosody; Acoustic; Communication; Pragmatics ID HIGH-FUNCTIONING AUTISM; INTONATION ABILITIES; IMMEDIATE ECHOLALIA; WILLIAMS-SYNDROME; ASPERGER-SYNDROME; LANGUAGE; SPEECH; ADULTS; SPEAKERS; STRESS AB In research, it has been difficult to characterize the prosodic production differences that have been observed clinically in autism spectrum disorders (ASD). Moreover, the nature of these differences has been particularly hard to identify. This study examined one possible contributor to these perceived differences: motor planning. We examined the ability of children and adolescents with ASD to imitate prosodic patterns in comparison to a group with learning disabilities (LD) and a typically developing (TD) comparison group. Overall, we found that both the ASD and LD groups were significantly worse at perceiving and imitating prosodic patterns than the TD comparison group. Similar to previous studies using non-imitative speech, participants with ASD showed a significantly longer duration of utterances than the two comparison groups when attempting to imitate an intonation pattern. The implications of differences in duration of utterances are discussed. This study also highlights the importance of using clinical comparison groups in studies of language performance in individuals with ASD. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Diehl, Joshua John] Univ Notre Dame, Dept Psychol, Notre Dame, IN 46556 USA. [Paul, Rhea] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA. RP Diehl, JJ (reprint author), Univ Notre Dame, Dept Psychol, 118A Haggar Hall, Notre Dame, IN 46556 USA. EM joshua.diehl@nd.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT BALTAXE CAM, 1984, J SPEECH HEAR RES, V27, P97 Boersma P., 2009, PRAAT DOING PHONETIC Catterall C, 2006, CLIN LINGUIST PHONET, V20, P531, DOI 10.1080/02699200500266380 COHEN J, 1973, EDUC PSYCHOL MEAS, V33, P107, DOI 10.1177/001316447303300111 Diehl J., APPL PSYCHO IN PRESS Diehl JJ, 2010, LANG LINGUIST SER, P159 Diehl JJ, 2008, BRAIN LANG, V106, P144, DOI 10.1016/j.bandl.2008.04.002 Diehl JJ, 2009, APPL PSYCHOLINGUIST, V30, P385, DOI 10.1017/S0142716409090201 EDELSON L, ENCY AUTISM IN PRESS Elliott C. D., 1990, DIFFERENTIAL ABILITY Esposito G, 2008, RES AUTISM SPECT DIS, V2, P371, DOI 10.1016/j.rasd.2007.09.003 Fosnot S. M., 1999, 14 INT C PHON SCI Grossman RB, 2010, J SPEECH LANG HEAR R, V53, P778, DOI 10.1044/1092-4388(2009/08-0127) Jarvinen-Pasley A, 2008, J AUTISM DEV DISORD, V38, P1328, DOI 10.1007/s10803-007-0520-z Kleinman J, 2001, J AUTISM DEV DISORD, V31, P29, DOI 10.1023/A:1005657512379 Klin A, 2000, J AUTISM DEV DISORD, V30, P163, DOI 10.1023/A:1005415823867 LOCAL J, 1995, CLIN LINGUIST PHONET, V9, P155, DOI 10.3109/02699209508985330 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Marshall CR, 2009, INT J LANG COMM DIS, V44, P466, DOI 10.1080/13682820802591643 McCann J, 2007, INT J LANG COMM DIS, V42, P682, DOI 10.1080/13682820601170102 McCann J, 2003, INT J LANG COMM DIS, V38, P325, DOI 10.1080/1368282031000154204 Oller DK, 2010, P NATL ACAD SCI USA, V107, P13354, DOI 10.1073/pnas.1003882107 PACCIA JM, 1982, J SPEECH HEAR RES, V25, P42 Paul R, 2008, RES AUTISM SPECT DIS, V2, P110, DOI 10.1016/j.rasd.2007.04.001 Paul R, 2005, J AUTISM DEV DISORD, V35, P205, DOI 10.1007/s10803-005-1999-9 Peppe S, 2003, CLIN LINGUIST PHONET, V17, P345, DOI 10.1080/0269920031000079994 Peppe S, 2006, J PRAGMATICS, V38, P1776, DOI 10.1016/j.pragma.2005.07.004 Peppe S, 2007, J SPEECH LANG HEAR R, V50, P1015, DOI 10.1044/1092-4388(2007/071) Peppe S. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 123 EP 134 DI 10.1016/j.rasd.2011.03.012 PG 12 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400015 ER PT J AU Pitts, L Dymond, S AF Pitts, Laura Dymond, Simon TI Increasing compliance of children with autism: Effects of programmed reinforcement for high-probability requests and varied inter-instruction intervals SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Behavioral momentum; Compliance; High probability requests; Programmed reinforcement; Inter-instruction intervals; Autism ID BEHAVIORAL MOMENTUM; ESCAPE BEHAVIOR; YOUNG-CHILDREN; SEQUENCE; NONCOMPLIANCE; DISORDERS; PRESCHOOLERS AB Research on the high-probability (high-p) request sequence shows that compliance with low-probability (low-p) requests generally increases when preceded by a series of high-p requests. Few studies have conducted formal preference assessments to identify the consequences used for compliance, which may partly explain treatment failures, and still fewer have examined the impact of programmed reinforcement for compliance to high-p requests. The present study first investigated the effects of high-p request sequences, with and without programmed reinforcement, on compliance to low-p requests using a reversal design with three children with autism. Preferred stimuli were identified via formal reinforcer preference assessments, and compliance, latency to compliance, and task completion time were measured. Results demonstrated high-p request sequences were most effective in increasing compliance and reducing compliance latency and task completion time when implemented with programmed reinforcement. Generalization probes conducted with a second trainer indicated that compliance occurred for all but one of the participants' low-p requests. The further effects of inter-instruction intervals (105 and 5 s) were examined using a combined alternating treatments and reversal design with one participant. Results demonstrated high-p request sequences were most effective in increasing compliance when implemented with 5s inter-instruction intervals and with programmed reinforcement. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Pitts, Laura; Dymond, Simon] Swansea Univ, Dept Psychol, Swansea SA2 8PP, W Glam, Wales. RP Dymond, S (reprint author), Swansea Univ, Dept Psychol, Singleton Pk, Swansea SA2 8PP, W Glam, Wales. EM s.o.dymond@swansea.ac.uk RI Dymond, Simon/D-8503-2014 OI Dymond, Simon/0000-0003-1319-4492 CR AUSTIN JL, 2005, ED TREATMENT CHILDRE, V28, P222 Belfiore PJ, 2002, PSYCHOL SCHOOLS, V39, P171, DOI 10.1002/pits.10028 Bullock C, 2006, J APPL BEHAV ANAL, V39, P495, DOI 10.1901/jaba.2006.115-05 Carr JE, 2000, J APPL BEHAV ANAL, V33, P353, DOI 10.1901/jaba.2000.33-353 DAVIS CA, 1992, J APPL BEHAV ANAL, V25, P905, DOI 10.1901/jaba.1992.25-905 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 HOULIHAN D, 1994, J APPL BEHAV ANAL, V27, P737, DOI 10.1901/jaba.1994.27-737 Jung S, 2008, J EARLY INTERVENTION, V30, P163, DOI 10.1177/1053815108317970 Lalli JS, 1999, J APPL BEHAV ANAL, V32, P285, DOI 10.1901/jaba.1999.32-285 MACE FC, 1988, J APPL BEHAV ANAL, V21, P123, DOI 10.1901/jaba.1988.21-123 Mace FC, 1997, J APPL BEHAV ANAL, V30, P1, DOI 10.1901/jaba.1997.30-1 MACE FC, 1990, J APPL BEHAV ANAL, V23, P507, DOI 10.1901/jaba.1990.23-507 Nevin JA, 1996, J APPL BEHAV ANAL, V29, P535, DOI 10.1901/jaba.1996.29-535 Normand MP, 2010, J APPL BEHAV ANAL, V43, P735, DOI 10.1901/jaba.2010.43-735 Patel MR, 2006, RES DEV DISABIL, V27, P430, DOI 10.1016/j.ridd.2005.05.005 RORTVEDT AK, 1994, J APPL BEHAV ANAL, V27, P327, DOI 10.1901/jaba.1994.27-327 STOKES TF, 1977, J APPL BEHAV ANAL, V10, P349, DOI 10.1901/jaba.1977.10-349 Wehby JH, 2000, J APPL BEHAV ANAL, V33, P259, DOI 10.1901/jaba.2000.33-259 Wilder DA, 2010, J APPL BEHAV ANAL, V43, P751, DOI 10.1901/jaba.2010.43-751 Wilder DA, 2010, J APPL BEHAV ANAL, V43, P601, DOI 10.1901/jaba.2010.43-601 ZARCONE JR, 1994, J APPL BEHAV ANAL, V27, P649, DOI 10.1901/jaba.1994.27-649 Zuluaga CA, 2008, J APPL BEHAV ANAL, V41, P453, DOI 10.1901/jaba.2008.41-453 NR 22 TC 1 Z9 1 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 135 EP 143 DI 10.1016/j.rasd.2011.03.013 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400016 ER PT J AU Matson, JL Turygin, NC Beighley, J Rieske, R Tureck, K Matson, ML AF Matson, Johnny L. Turygin, Nicole C. Beighley, Jennifer Rieske, Robert Tureck, Kimberly Matson, Michael L. TI Applied behavior analysis in Autism Spectrum Disorders: Recent developments, strengths, and pitfalls SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE ABA; Autism; Review; Challenging behavior; Life skills ID FEEDING-PROBLEMS STEP; INTELLECTUAL DISABILITY; SOCIAL-SKILLS; CHALLENGING BEHAVIORS; ASPERGER-SYNDROME; SCREENING-TOOL; YOUNG MAN; CHILDREN; INTERVENTION; ADULTS AB Autism has become one of the most heavily researched topics in the field of mental health and education. While genetics has been the most studied of all topics, applied behavior analysis (ABA) has also received a great deal of attention, and has arguably yielded the most promising results of any research area to date. The current paper provides a review of recent trends in ABA research with respect to autism. Among the areas that are receiving the most attention include early intervention, parent training, functional assessment, challenging behaviors, independent living skills, social skills training, and parent training. The implications of these data are discussed. (C) 2011 Published by Elsevier Ltd. C1 [Matson, Johnny L.] LSU, Dept Psychol, Baton Rouge, LA 70803 USA. [Matson, Michael L.] Res Ctr, Chicago, IL USA. RP Matson, JL (reprint author), LSU, Dept Psychol, Baton Rouge, LA 70803 USA. 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SPECT DIS, V3, P905, DOI 10.1016/j.rasd.2009.06.004 WOLF M, 1964, BEHAV RES THER, V1, P305 [熊妮娜 Xiong Nina], 2010, [中国康复医学杂志, Chinese Journal of Rehabilitation Medicine], V25, P970 Zachor DA, 2010, RES AUTISM SPECT DIS, V4, P425, DOI 10.1016/j.rasd.2009.10.013 NR 82 TC 6 Z9 6 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 144 EP 150 DI 10.1016/j.rasd.2011.03.014 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400017 ER PT J AU Kozlowski, AM Matson, JL Worley, JA AF Kozlowski, Alison M. Matson, Johnny L. Worley, Julie A. TI The impact of familial autism diagnoses on autism symptomatology in infants and toddlers SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; ASD; Genetics; Symptoms; Family; BISCUIT ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; SOCIAL-SKILLS; CHILDREN; TWIN; BEHAVIOR; GENETICS; EPILEPSY; DOMAINS; SCREEN AB Debate regarding the etiology of Autism Spectrum Disorders (ASD) is on the rise with numerous theories being put forth. Currently, the theory with the most empirical support is the interaction of multiple genes. Many studies have provided evidence that as the incidence of ASD increases so do genetic similarities. However, very little research has focused on the presentation of ASD symptomatology in those individuals with or without ASD diagnoses who have biological relatives with or without ASD diagnoses. The aim of the current study was to first examine the percentage of toddlers with and without ASD who had biological relatives with ASD. Next, the impact familial ASD had on ASD symptomatology within infants and toddlers with and without diagnoses of ASD was investigated. In the first study, 438 toddlers with an ASD diagnosis and 1,071 who were atypically developing without an ASD diagnosis were examined. A greater percentage of toddlers with ASD were noted to have a biological relative with an identified ASD in comparison to atypically developing toddlers. In the second study, no significant differences emerged between groups dependent on familial ASD of symptoms of autism as measured by the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT). As such, despite previous research indicating a strong genetic link to ASD, this link is undoubtedly complex and not necessarily related to ASD symptomatology. Suggestions for further research are provided. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Kozlowski, Alison M.; Matson, Johnny L.; Worley, Julie A.] 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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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 151 EP 157 DI 10.1016/j.rasd.2011.03.015 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400018 ER PT J AU Mangum, A Fredrick, L Pabico, R Roane, H AF Mangum, Aphrodite Fredrick, Laura Pabico, Robert Roane, Henry TI The role of context in the evaluation of reinforcer efficacy: Implications for the preference assessment outcomes SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Concurrent-operant; Preference assessment; Reinforcer assessment; Single-operant ID DEVELOPMENTAL-DISABILITIES; STIMULUS PREFERENCE; RATIO SCHEDULES; INDIVIDUALS; SETTINGS; ABSOLUTE; TIME AB Highly preferred stimuli were identified via two preference assessments (based on Fisher et al., 1992), the second of which included stimuli that were ranked low in the initial preference assessment. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 158 EP 167 DI 10.1016/j.rasd.2011.04.001 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400019 ER PT J AU Kuppens, S Onghena, P AF Kuppens, S. Onghena, P. TI Sequential meta-analysis to determine the sufficiency of cumulative knowledge: The case of early intensive behavioral intervention for children with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Sufficiency; Meta-analysis; Group sequential boundaries; Sequential meta-analysis; Early intensive behavioral intervention; Autism spectrum disorders ID PERVASIVE DEVELOPMENTAL DISORDER; RANDOMIZED CONTROLLED-TRIALS; MENTAL-RETARDATION; CLINICAL-TRIALS; YOUNG-CHILDREN; BOUNDARIES AB Meta-analysis has become a popular tool to statistically integrate results across studies in order to formulate more general conclusions on treatment effectiveness. Unfortunately, traditional meta-analytic applications fail to answer the question whether enough cumulative knowledge is available to draw convincing statistical conclusions. Leaving questions regarding the sufficiency of cumulative knowledge unaddressed may lead to inefficient use of limited resources or to the dissemination of spurious treatment benefit. Sequential meta-analysis or SMA provides a statistical framework to determine the sufficiency of cumulative knowledge in a meta-analysis, but is relatively unknown in mental health or disability fields. In this article, we introduce SMA and demonstrate its application by resynthesizing research findings on the effectiveness of early intensive behavioral intervention (EIBI) for children with autism reported in five published meta-analyses. The results illustrate the additional information that can be gained by including a sequential approach in research synthesis. SMA may serve as a valuable tool to systematically build and interpret a cumulative knowledge base on treatment effectiveness in the field of developmental disabilities. (C) 2011 Elsevier Ltd. All rights reserved. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 168 EP 176 DI 10.1016/j.rasd.2011.04.002 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400020 ER PT J AU Levine, TP Sheinkopf, SJ Pescosolido, M Rodino, A Elia, G Lester, B AF Levine, Todd P. Sheinkopf, Stephen J. Pescosolido, Matthew Rodino, Alison Elia, Gregory Lester, Barry TI Physiologic arousal to social stress in children with Autism Spectrum Disorders: A pilot study SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Psychophysiology; Trier Social Stress Test; High functioning autism; Stress ID HIGH-FUNCTIONING CHILDREN; CORTISOL CIRCADIAN-RHYTHMS; PSYCHOSOCIAL STRESS; AUTONOMIC RESPONSES; SALIVARY CORTISOL; RELATIVES; REACTIVITY; EMOTIONS; DEFICITS; ANXIETY AB Little is known about arousal to socially stressful situations in children with Autism Spectrum Disorders. This preliminary study investigates physiologic arousal in children with high functioning autism (HFA, n = 19) compared to a comparison group (n = 11) before, during, and after the Trier Social Stress Test. The HFA group was more likely to have a decrease in salivary cortisol following the stressor, while the comparison group was more likely to have an increase (p = .02). However, there was no difference in electrodermal activity, a measure of sympathetic arousal, or vagal tone, a measure of parasympathetic activity, between groups. These findings implicate a differential neuroendocrine response to social stress in children with HFA despite similar sympathetic and parasympathetic responses during a stressor. Further studies are required to substantiate this finding. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Levine, Todd P.; Sheinkopf, Stephen J.; Pescosolido, Matthew; Rodino, Alison; Elia, Gregory; Lester, Barry] Women & Infants Hosp Rhode Isl, Brown Ctr Study Children Risk, Providence, RI 02905 USA. [Levine, Todd P.; Sheinkopf, Stephen J.; Lester, Barry] Brown Univ, Dept Psychiat & Human Behav, Warren Alpert Med Sch, Providence, RI 02912 USA. [Sheinkopf, Stephen J.; Lester, Barry] Brown Univ, Dept Pediat, Warren Alpert Med Sch, Providence, RI 02912 USA. RP Levine, TP (reprint author), Women & Infants Hosp Rhode Isl, Brown Ctr Study Children Risk, 101 Dudley St, Providence, RI 02905 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 177 EP 183 DI 10.1016/j.rasd.2011.04.003 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400021 ER PT J AU Wright, K Poulin-Dubois, D AF Wright, Kristyn Poulin-Dubois, Diane TI Modified Checklist for Autism in Toddlers (M-CHAT) screening at 18 months of age predicts concurrent understanding of desires, word learning and expressive vocabulary SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; M-CHAT; Developmental screening; Theory of mind; Expressive language ID 6-YEAR FOLLOW-UP; SPECTRUM DISORDERS; CHILDREN; MIND; LANGUAGE; COMMUNICATION; RELIABILITY; INFANTS AB The Modified Checklist for Autism in Toddlers (M-CHAT) is a 23-item questionnaire used in primary screening of Autism Spectrum Disorder (ASD). The current studies examine the concurrent validity of the M-CHAT in its ability to predict 18-month-olds' performance on theory of mind and word learning tasks. In Experiment 1, infants' understanding of desires was tested using a modified food request task. Experiment 2 assessed infants' ability to learn novel words. Results indicate that infants' score on the M-CHAT significantly predicts their performance on both the desire understanding and the novel word learning task. As expected, the number of items endorsed on the M-CHAT also relates to infants' expressive vocabulary at 18 months of age. Taken together, these findings confirm the concurrent validity of the M-CHAT at the youngest age this measure can reliably be administered. Within a broader clinical context, the present results provide preliminary evidence that controlled laboratory tasks assessing early social cognitive and verbal abilities could be added to the battery of screening instruments for ASD. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Wright, Kristyn; Poulin-Dubois, Diane] Concordia Univ, Dept Psychol, Montreal, PQ H4B 1R6, Canada. RP Wright, K (reprint author), Concordia Univ, Dept Psychol, PY-120,7141 Sherbrooke St W, Montreal, PQ H4B 1R6, Canada. 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M., 1994, CHILDRENS EARLY UNDE, P331 NR 38 TC 1 Z9 3 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 184 EP 192 DI 10.1016/j.rasd.2011.04.004 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400022 ER PT J AU Balconi, M Amenta, S Ferrari, C AF Balconi, Michela Amenta, Simona Ferrari, Chiara TI Emotional decoding in facial expression, scripts and videos: A comparison between normal, autistic and Asperger children SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Asperger; Emotions; Face; Script; Video ID RECOGNITION; FEAR; AMYGDALA; FACES; ANGER AB ASD subjects are described as showing particular difficulty in decoding emotional patterns. This paper explored linguistic and conceptual skills in response to emotional stimuli presented as emotional faces, scripts (pictures) and interactive situations (videos). Participants with autism, Asperger syndrome and control participants were shown facial, pictorial and video representation of six basic emotions (happiness, anger, fear, sadness, surprise, disgust). They were asked to identify the emotion and to individuate possible causes of the emotional state. A semantic analysis was applied to verbal reports, focusing on labeling and conceptualization. Log-linear analyses showed different representations across the participants as a function of emotion, pathology and presentation modality. Autistic participants were able to correctly decode primary emotions while showing difficulties with surprise. In contrast., Asperger participants performance was more similar to control subjects'. Finally, when situational correlates were provided, it was evident a "facilitation effect" for the representation of emotions. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Balconi, Michela; Amenta, Simona; Ferrari, Chiara] Catholic Univ Milan, Dept Psychol, I-20123 Milan, Italy. RP Amenta, S (reprint author), Catholic Univ Milan, Dept Psychol, Largo Gemelli 1, I-20123 Milan, Italy. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 193 EP 203 DI 10.1016/j.rasd.2011.04.005 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400023 ER PT J AU Miniscalco, C Franberg, J Schachinger-Lorentzon, U Gillberg, C AF Miniscalco, Carmela Franberg, Josefina Schachinger-Lorentzon, Ulrika Gillberg, Christopher TI Meaning what you say? Comprehension and word production skills in young children with autism SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Language; MacArthur CDI; Reynell; Toddlers ID COMMUNICATIVE DEVELOPMENT INVENTORIES; SPECTRUM DISORDERS; LANGUAGE-SKILLS; DIAGNOSTIC INTERVIEW; SWEDISH CHILDREN; TODDLERS; ATTENTION; INFANCY; VERSION; AGE AB Thirty-one, representative, one- to three-year-old children with autism spectrum disorders (ASD) were given the MacArthur Communicative Developmental Inventory (CDI) for parent completion and the Reynell Developmental Language Scales III (RDLS) for assessment by a speech and language pathologist. Correspondence across scales was good to excellent, indicating that parents of children with ASD can often be trusted in their report on children's language and communication abilities. The children had considerably better word production than comprehension and gesture skills, which is a pattern that is reversed in comparison with typically developing children. These findings suggest that children with ASD who have some spoken language may well be overestimated on the basis of superficially (at least relatively) good word production skills. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Miniscalco, Carmela] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Div Speech & Language Pathol, SE-40530 Gothenburg, Sweden. [Miniscalco, Carmela; Gillberg, Christopher] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, SE-40530 Gothenburg, Sweden. RP Miniscalco, C (reprint author), Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Div Speech & Language Pathol, Box 452, SE-40530 Gothenburg, Sweden. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 204 EP 211 DI 10.1016/j.rasd.2011.05.001 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400024 ER PT J AU Dunphy-Lelii, S Wellman, HM AF Dunphy-Lelii, Sarah Wellman, Henry M. TI Delayed self-recognition in autism: A unique difficulty? SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Self-recognition; Autobiographical memory ID YOUNG CHILDRENS ABILITY; HIGH-FUNCTIONING AUTISM; AUTOBIOGRAPHICAL MEMORY; VIDEO REPRESENTATION; ASPERGERS-DISORDER; SPECTRUM DISORDER; INFANTS; AWARENESS; VALIDITY; IDENTIFY AB Achieving a sense of self is a crucial task of ordinary development. With which aspects of self do children with autism have particular difficulty? Two prior studies concluded that children with autism are unimpaired in delayed self-recognition; we confirm and clarify this conclusion by examining it in conjunction with another key aspect of self understanding, including several needed controls and contrasts. Three groups of children were tested in a delayed self-recognition paradigm as well as a self-other action memory card game in which they took turns placing pictures with an adult: 3-year-olds (n = 25), 5-year-olds (n = 27), and children with autism spectrum disorder (n = 20). Children with autism spectrum disorder (ASD) demonstrated impaired performance on self-other recall compared to both typical 5-year-olds and typical 3-year-olds, but were not significantly different on delayed self-recognition. Results are discussed with regard to the unique profile of self-related performance in autism. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Dunphy-Lelii, Sarah] Bard Coll, Annandale on Hudson, NY 12504 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 212 EP 223 DI 10.1016/j.rasd.2011.05.002 PG 12 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400025 ER PT J AU McCrimmon, AW Schwean, VL Saklofske, DH Montgomery, JM Brady, DI AF McCrimmon, Adam W. Schwean, Vicki L. Saklofske, Donald H. Montgomery, Janine M. Brady, Danielle I. TI Executive functions in Asperger's syndrome: An empirical investigation of verbal and nonverbal skills SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Asperger's syndrome; Adolescents; Executive functioning; Neuropsychological functioning ID PERVASIVE DEVELOPMENTAL DISORDERS; SARCASM SCENARIO TEST; PSYCHOLOGICAL-RESEARCH; PRAGMATIC IMPAIRMENTS; COGNITIVE DEFICITS; READING-DISABILITY; AUTISM SPECTRUM; WORKING-MEMORY; LANGUAGE; CHILDREN AB Deficits in executive functioning (EF) have been proposed to underlie the behavioural patterns of individuals with an autism spectrum disorder. Researchers have shown that the Asperger's syndrome (AS) population performs more poorly than typically developing controls on many EF tasks. However, the research literature is inconsistent in identifying the specific features or aspects of EF that are affected in this population. This study investigated EF in AS using a bottom-up empirical method. Four visually mediated and three verbally mediated EF tasks from the Delis-Kaplan Executive Functioning System were administered to 33 adolescents with AS and 33 age- and gender-matched controls. Two-step cluster analysis was then used to derive subgroups. Diagnostic composition of these subgroups (AS versus control) was examined to provide empirical evidence of a performance bias towards verbal EF for the AS group. A two cluster solution best fits the data with 73% of the AS participants being classified into one cluster and 64% of the control participants classified into another. Assignment into cluster A was based primarily upon low performance on the four visual EF tasks whereas assignment into cluster B was based primarily upon good performance on the four visual EF tasks and one verbal EF task. (C) 2011 Elsevier Ltd. All rights reserved. C1 [McCrimmon, Adam W.; Saklofske, Donald H.; Brady, Danielle I.] Univ Calgary, Educ Studies Sch Psychol, Calgary, AB T2N 1N4, Canada. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 224 EP 233 DI 10.1016/j.rasd.2011.05.003 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400026 ER PT J AU Memari, AH Kordi, R Ziaee, V Mirfazeli, FS Setoodeh, MS AF Memari, Amir Hossein Kordi, Ramin Ziaee, Vahid Mirfazeli, Fatemeh Sadat Setoodeh, Mohammad S. TI Weight status in Iranian children with autism spectrum disorders: Investigation of underweight, overweight and obesity SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder; Obesity; BMI percentile; Children and adolescence ID PERVASIVE DEVELOPMENTAL DISORDERS; BODY-MASS INDEX; CONTROLLED-TRIAL; FEMALE-CHILDREN; UNITED-STATES; ADOLESCENTS; PREVALENCE; SCHIZOPHRENIA; ARIPIPRAZOLE; IRRITABILITY AB The purpose of this study was to survey the weight status of children and adolescents with autism spectrum disorders (ASDs) in Iranian pupils and further to investigate the most likely associated factors such as demographics, autism severity and medications. The survey was designed to provide a random sample of 113 children and adolescents (boys = 90, girls = 23) aged 7-14 years old attending autism-specific schools in Tehran in 2010. The findings revealed that 50.4% of these young children were in the limits of normal weight, but 8.7% were underweight, 13.3% were overweight, 11.5% were obese, and 15.9% were severely obese. There were significant associations between obesity and poverty level, age, sex and socioeconomic state. We conclude that with increase in the prevalence of ASD, there was found a growing rate of obesity in these children. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Memari, Amir Hossein] Univ Tehran Med Sci, Sports Med Res Ctr, Sport & Exercise Psychol Grp, Tehran, Iran. [Kordi, Ramin; Mirfazeli, Fatemeh Sadat] Univ Tehran Med Sci, Fac Med, Sports Med Res Ctr, Tehran, Iran. [Ziaee, Vahid] Univ Tehran Med Sci, Fac Med, Dept Pediat, Tehran, Iran. [Setoodeh, Mohammad S.] Univ Tehran, Dept Phys Educ & Sport Sci, Tehran 14174, Iran. RP Memari, AH (reprint author), 7 Al E Ahmad Highway,POB 14395-578, Tehran, Iran. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 234 EP 239 DI 10.1016/j.rasd.2011.05.004 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400027 ER PT J AU Amr, M Raddad, D El-Mehesh, F Bakr, A Sallam, K Amine, T AF Amr, Mostafa Raddad, Dahoud El-Mehesh, Fatima Bakr, Ashraf Sallam, Khalid Amine, Tarek TI Comorbid psychiatric disorders in Arab children with Autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder; Children; Autistic symptoms; Comorbid psychiatric disorders ID PERVASIVE DEVELOPMENTAL DISORDERS; ATTENTION DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY DISORDER; OBSESSIVE-COMPULSIVE DISORDER; HIGH-FUNCTIONING AUTISM; SICKLE-CELL-DISEASE; ADOLESCENTS; SYMPTOMS; BEHAVIOR; POPULATION AB The objective of our study is to estimate the prevalence of comorbid psychiatric disorders in a sample of children with autism spectrum disorders (ASD) recruited from three Arab countries. We also examine the relationship between comorbidity and children's cognitive functioning and gender. Children who received a diagnosis of ASD (n = 60) from a child psychiatric outpatient clinic in Mansoura (Egypt), Al-Ahsa (Saudi Arabia) and Amman (Jordan) were included in this study. Comorbid diagnoses were established with a clinical interview and a semi-structured clinical interview for children and adolescents (SCICA). In addition, for all patients the cognitive evaluation was measured given the range in age and level of ability. Sixty-three percent of the children were diagnosed with at least one comorbid disorder. The most commonly reported comorbid disorders were anxiety disorders (58.3%), ADHD (31.6%), conduct disorders (23.3%), and major depressive disorder (13.3%). Out of the total sample, Obsessive compulsive disorder was the most prevalent anxiety disorder (55%). Elimination disorders were also diagnosed in 40% of patients. These findings emphasize a wide variety of psychiatric comorbidity afflicting youth with ASD and may be important targets for intervention. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Amr, Mostafa; Raddad, Dahoud] Coll Med Al Ahsa, Al Hufuf, Saudi Arabia. [El-Mehesh, Fatima] Psychiat Hosp Al Ahsa, Al Hasa, Saudi Arabia. [Amr, Mostafa; Bakr, Ashraf] Coll Med, Mansoura, Egypt. [Sallam, Khalid] Coll Med Banha, Banha, Egypt. [Amine, Tarek] Cairo Univ, Fac Med, Cairo, Egypt. RP Amr, M (reprint author), King Faisal Univ, Coll Med Al Hassa, Dept Clin Neurosci, POB 400, Al Hufuf 31982, Saudi Arabia. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 240 EP 248 DI 10.1016/j.rasd.2011.05.005 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400028 ER PT J AU Diehl, JJ Schmitt, LM Villano, M Crowell, CR AF Diehl, Joshua J. Schmitt, Lauren M. Villano, Michael Crowell, Charles R. TI The clinical use of robots for individuals with Autism Spectrum Disorders: A critical review SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism; Asperger; Therapy; Intervention; Social skills; Robot ID FUNCTIONING AUTISM; SOCIAL-SKILLS; CHILDREN; THERAPY; INTERVENTIONS; RECOGNITION; RELIABILITY; IMITATION; PEOPLE AB We examined peer-reviewed studies in order to understand the current status of empirically based evidence on the clinical applications of robots in the diagnosis and treatment of Autism Spectrum Disorders (ASD). Studies are organized into four broad categories: (a) the response of individuals with ASD to robots or robot-like behavior in comparison to human behavior, (b) the use of robots to elicit behaviors, (c) the use of robots to model, teach, and/or practice a skill, and (d) the use of robots to provide feedback on performance. A critical review of the literature revealed that most of the findings are exploratory and have methodological limitations that make it difficult to draw firm conclusions about the clinical utility of robots. Finally, we outline the research needed to determine the incremental validity of this technique. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Diehl, Joshua J.; Schmitt, Lauren M.; Villano, Michael; Crowell, Charles R.] Univ Notre Dame, Dept Psychol, Notre Dame, IN 46556 USA. RP Diehl, JJ (reprint author), Univ Notre Dame, Dept Psychol, 118 Haggar Hall, Notre Dame, IN 46556 USA. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 249 EP 262 DI 10.1016/j.rasd.2011.05.006 PG 14 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400029 ER PT J AU Gau, SSF Chou, MC Chiang, HL Lee, JC Wong, CC Chou, WJ Wu, YY AF Gau, Susan Shur-Fen Chou, Miao-Churn Chiang, Huey-Ling Lee, Ju-Chin Wong, Ching-Ching Chou, Wen-Jiun Wu, Yu-Yu TI Parental adjustment, marital relationship, and family function in families of children with autism SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Parental adjustment; Marital relationship; Family functioning ID SPECTRUM DISORDERS; PRESCHOOL-CHILDREN; MENTAL-HEALTH; DEVELOPMENTAL DELAY; TAIWANESE CHILDREN; COPING STRATEGIES; BEHAVIOR PROBLEMS; CIRCUMPLEX MODEL; FACES-III; MOTHERS AB This study aimed to investigate the psychopathology, marital relationship, and family function in parents of children with autistic disorder (autism) as compared to parents of typically developing children. We also compared these measures between the mothers and the fathers. We assessed 151 families with at least one child with autistic disorder and 113 families of typically developing children in Taiwan. Both parents completed the self-administered questionnaires measuring psychopathology, marital dyadic adjustment, and family function. Both parents of children with autism suffered from more psychopathology and less dyadic consensus than parents of typically developing children; mothers of children with autism, perceived less marital satisfaction, affection expression, family adaptability and cohesion than mothers of typically developing children. We also found that mothers of children with autism displayed more psychopathology and marital maladjustment than did the fathers. These findings highlight that parents of children with autism encounter more psychological problems, marital difficulties and family dysfunction, particularly their mothers. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Wu, Yu-Yu] Chang Gung Univ, Coll Med, Chang Gung Childrens Hosp, Dept Child Psychiat, Tao Yuan 33305, Taiwan. [Gau, Susan Shur-Fen; Chiang, Huey-Ling] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan. [Gau, Susan Shur-Fen] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10764, Taiwan. [Chou, Miao-Churn; Chou, Wen-Jiun] Chang Gung Mem Hosp, Kaohsiung Med Ctr, Dept Child Psychiat, Kaohsiung, Taiwan. [Chiang, Huey-Ling] New Taipei City Hosp, Dept Psychiat, Taipei, Taiwan. [Lee, Ju-Chin] Taipei Med Univ Hosp, Dept Psychiat, Taipei, Taiwan. [Wong, Ching-Ching] Taipei City Hosp, Branch Women & Children, Taipei Child Assessment & Early Intervent Ctr, Taipei, Taiwan. RP Wu, YY (reprint author), Chang Gung Univ, Coll Med, Chang Gung Childrens Hosp, Dept Child Psychiat, 5 Fusing St, Tao Yuan 33305, Taiwan. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 263 EP 270 DI 10.1016/j.rasd.2011.05.007 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400030 ER PT J AU Matson, JL AF Matson, Johnny L. TI Treating adaptive living skills of persons with autism using applied behavior analysis: A review SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism; Applied behavior analysis; Self-help; Hygiene skills ID PROFOUND MENTAL-RETARDATION; SPECTRUM DISORDERS; DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITIES; FOOD SELECTIVITY; SOCIAL-SKILLS; CHALLENGING BEHAVIORS; FUNCTIONAL ASSESSMENT; YOUNG-CHILDREN; ADULTS AB Work, self-help, leisure, and hygiene skill deficits are often associated with Autistic Disorder, a neurodevelopmental disorder characterized by pervasive impairments in socialization, communication, and repetitive and restricted behaviors or interests. A number of interventions have been established to assist individuals with these impairments. This paper is a review of the use of techniques specific to applied behavior analysis (ABA) as an intervention for these adaptive living skill deficits for individuals with autism. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 271 EP 276 DI 10.1016/j.rasd.2011.05.008 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400031 ER PT J AU Mayes, SD Calhoun, SL Mayes, RD Molitoris, S AF Mayes, Susan Dickerson Calhoun, Susan L. Mayes, Rebecca D. Molitoris, Sarah TI Autism and ADHD: Overlapping and discriminating symptoms SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; ADHD; Differential diagnosis ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; OPPOSITIONAL-DEFIANT DISORDER; DEFICIT-HYPERACTIVITY DISORDER; TRAUMATIC BRAIN-INJURY; PERVASIVE DEVELOPMENTAL DISORDER; HIGH-FUNCTIONING AUTISM; IV ASPERGERS-DISORDER; PROCESSING SPEED; PSYCHIATRIC-DISORDERS; SPECTRUM DISORDERS AB Children with ADHD and autism have some similar features, complicating a differential diagnosis. The purpose of our study was to determine the degree to which core ADHD and autistic symptoms overlap in and discriminate between children 2-16 years of age with autism and ADHD. Our study demonstrated that 847 children with autism were easily distinguished from 158 children with ADHD. All children with autism had 15 or more of the 30 Checklist for Autism Spectrum Disorder symptoms (mean 22), and none of the children with ADHD did (mean 4). Three of the symptoms were present only in children with autism. Almost all 30 symptoms were found in over half of the children with autism, whereas none were present in the majority of children with ADHD-Inattentive type (ADHD-I) or in children with ADHD-Combined type (ADHD-C) without comorbid oppositional-defiant disorder. In contrast, ADHD symptoms were common in autism. Children with low and high functioning autism and ADHD-C did not differ on maternal ratings of attention deficit, impulsivity, and hyperactivity. 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A., 2006, FOCUS AUTISM OTHER D, V21, P2, DOI 10.1177/10883576060210010101 WOLRAICH ML, 1994, NEW ENGL J MED, V330, P301, DOI 10.1056/NEJM199402033300501 NR 69 TC 38 Z9 39 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 277 EP 285 DI 10.1016/j.rasd.2011.05.009 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400032 ER PT J AU Papadopoulos, N McGinley, J Tonge, BJ Bradshaw, JL Saunders, K Rinehart, NJ AF Papadopoulos, Nicole McGinley, Jennifer Tonge, Bruce J. Bradshaw, John L. Saunders, Kerryn Rinehart, Nicole J. TI An investigation of upper limb motor function in high functioning autism and Asperger's disorder using a repetitive Fitts' aiming task SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Motor performance; Autism; Asperger's disorder; Cerebellum; Movement control; Fitts' task ID KINEMATIC ANALYSIS; SPECTRUM DISORDER; GAIT FUNCTION; MOVEMENT; CHILDREN; IMPAIRMENT; CEREBELLUM; BRAIN AB There is now a growing body of research examining movement difficulties in children diagnosed with high functioning autism (HFA) and Asperger's disorder (AD). Despite this, few studies have investigated the kinematic components of movement that may be disrupted in children diagnosed with these disorders. The current study investigated rapid aiming movements in 19 individuals diagnosed with HFA, 20 individuals diagnosed with AD and 18 typically developing (TD) controls. A novel touchscreen version of a Fitts' aiming task was administered that required participants to make 10 reciprocal aiming movements between targets. Task difficulty was manipulated by varying the size and distance between targets. Movement time in the HFA and AD groups was comparable to TD controls. Children with HFA displayed more constant and variable error across repeated aiming attempts compared to the TD group that may be attributed to deficits in feedforward online refinement of movement. These findings are in accordance with previous gait, ocular motor, upper limb and neuroimaging studies that suggest that the cerebellum may underlie movement disturbance in individuals diagnosed with HFA. Additionally, differences in the nature of upper limb motor disturbance in HFA may serve as a useful future adjunct to clinical measures. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Papadopoulos, Nicole; Bradshaw, John L.; Rinehart, Nicole J.] Monash Univ, Sch Psychol Psychiat & Psychol Med, Ctr Dev Psychiat & Psychol, Notting Hill, Vic 3168, Australia. [McGinley, Jennifer] Univ Melbourne, Murdoch Childrens Res Inst & Physiotherapy, Parkville, Vic 3052, Australia. [Tonge, Bruce J.] Monash Med Ctr, Sch Psychol Psychiat & Psychol Med, Ctr Dev Psychiat & Psychol, Clayton, Vic 3168, Australia. [Saunders, Kerryn] Monash Univ, Monash Med Ctr, Dept Med Nursing & Hlth Sci, Clayton, Vic, Australia. RP Papadopoulos, N (reprint author), Monash Univ, Sch Psychol Psychiat & Psychol Med, Ctr Dev Psychiat & Psychol, Bldg 1,270 Ferntree Gully Rd, Notting Hill, Vic 3168, Australia. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 286 EP 292 DI 10.1016/j.rasd.2011.05.010 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400033 ER PT J AU Moh, TA Magiati, I AF Moh, Teresa Ailing Magiati, Iliana TI Factors associated with parental stress and satisfaction during the process of diagnosis of children with Autism Spectrum Disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Diagnosis; Autism; Autism Spectrum Disorders; Stress; Satisfaction; Parents ID PERVASIVE DEVELOPMENTAL DISORDERS; ISSUES; SAMPLE; COMMUNICATION; RECOGNITION; EXPERIENCES; CHECKLIST; 1ST; AGE AB Diagnosis of Autism Spectrum Disorders (ASD) is complex and parents worldwide often experience difficulties and frustration during the diagnostic process. This study examined the duration of the diagnostic period, the number of professionals consulted, the relationship with the professional(s) and the perceived helpfulness of information provided in relation to how they impact on parental satisfaction and stress during the diagnostic process. The study also obtained professional perspectives regarding current diagnostic practices to understand aspects of the process which may be helpful in increasing professional confidence in diagnosing ASD. One hundred and two parents of 2-17 years old children and young people with ASD recruited from ASD special schools, intervention centres and hospitals in Singapore completed a survey, which included information on various aspects of the diagnostic process and measures of autism severity, parental stress and satisfaction. Seventeen professionals completed a similar survey. Parents from higher educational and socioeconomic backgrounds were more likely to raise concerns about their child's development at an earlier age. Higher parental stress was associated with more professionals consulted and lower perceived collaboration with professionals. Higher parental satisfaction was associated with higher perceived collaboration with professionals, higher perceived helpfulness of received information, lower severity of child ASD symptoms and lower levels of stress. Findings are discussed in relation to clinical practice guidelines and existing literature on the process and impact of diagnosis on families. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Moh, Teresa Ailing; Magiati, Iliana] Natl Univ Singapore, Dept Psychol, Singapore 117570, Singapore. RP Magiati, I (reprint author), Natl Univ Singapore, Dept Psychol, AS4 02-24,9 Arts Link, Singapore 117570, Singapore. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 293 EP 303 DI 10.1016/j.rasd.2011.05.011 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400034 ER PT J AU Kagohara, DM Sigafoos, J Achmadi, D O'Reilly, M Lancioni, G AF Kagohara, Debora M. Sigafoos, Jeff Achmadi, Donna O'Reilly, Mark Lancioni, Giulio TI Teaching children with autism spectrum disorders to check the spelling of words SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Academic skills; Autism spectrum disorders; Spell checking; Video modeling; Word processing; iPad (R) ID ASPERGER-SYNDROME; MODELING INTERVENTIONS; VIDEO; INDIVIDUALS; PERFORMANCE; ADOLESCENTS; SYSTEM AB This study aimed to teach two students with autism spectrum disorders (ASD) to check the spelling of words using the spell-check function on common word processor programs. A multiple-baseline across participants design with baseline, video modeling, and follow-up phases was implemented. During baseline, the participants performed less than 40% of the task-analyzed steps correctly. When the video modeling intervention was introduced via an iPad (R), both participants reached the 76-100% correct level on the task analysis and became more successful in using the word processor programs to check the spelling of words. Follow-up data showed 100% correct performance by both participants. The results suggest that the video modeling intervention, delivered via an iPad (R), was effective in teaching two adolescents with ASD to check the spelling of words using common word processing programs. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Kagohara, Debora M.] Victoria Univ Wellington, Sch Educ Psychol, Wellington, New Zealand. [O'Reilly, Mark] Univ Texas Austin, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA. [Lancioni, Giulio] Univ Bari, Bari, Italy. RP Kagohara, DM (reprint author), Victoria Univ Wellington, Sch Educ Psychol, Karori Campus,POB 17-310, Wellington, New Zealand. EM debora.kagohara@vuw.ac.nz CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Attwood T., 2006, TIZARD LEARNING DISA, V11, P3, DOI DOI 10.1108/13595474200600032 Attwood T., 2007, COMPLETE GUIDE ASPER Ayres L. P., 1915, MEASURING SCALE ABIL Bellini S, 2007, EXCEPT CHILDREN, V73, P264 Carrington S, 2001, AUTISM, V5, P37, DOI 10.1177/1362361301005001004 Charlop-Christy MH, 2000, J AUTISM DEV DISORD, V30, P537, DOI 10.1023/A:1005635326276 Cihak D, 2010, J POSIT BEHAV INTERV, V12, P103, DOI 10.1177/1098300709332346 Davies DK, 2002, EDUC TRAIN MENT RET, V37, P209 Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401 Delano ME, 2007, J APPL BEHAV ANAL, V40, P345, DOI 10.1901/jaba.2007.50-06 Ferguson H, 2005, EDUC TRAIN DEV DISAB, V40, P60 Goodman G., 2007, Teaching Exceptional Children, V39, P53 Johnson J. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 304 EP 310 DI 10.1016/j.rasd.2011.05.012 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400035 ER PT J AU Lambrechts, G Van Leeuwen, K Boonen, H Maes, B Noens, I AF Lambrechts, Greet Van Leeuwen, Karla Boonen, Hannah Maes, Bea Noens, Ilse TI Parenting behaviour among parents of children with autism spectrum disorder (vol 5, pg 1143, 2011) SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Correction C1 [Lambrechts, Greet; Van Leeuwen, Karla; Boonen, Hannah; Maes, Bea; Noens, Ilse] Katholieke Univ Leuven, Parenting & Special Educ Res Grp, B-3000 Louvain, Belgium. [Lambrechts, Greet; Boonen, Hannah; Noens, Ilse] Katholieke Univ Leuven, Leuven Autism Res Consortium LAuRes, B-3000 Louvain, Belgium. [Noens, Ilse] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. RP Lambrechts, G (reprint author), Katholieke Univ Leuven, Parenting & Special Educ Res Grp, Vesaliusstr 2,POB 3765, B-3000 Louvain, Belgium. EM Greet.Lambrechts@ped.kuleuven.be; Karla.Vanleeuwen@ped.kuleuven.be; Hannah.Boonen@ped.kuleuven.be; Bea.Maes@ped.kuleuven.be; Ilse.Noens@ped.kuleuven.be CR Lambrechts G, 2011, RES AUTISM SPECT DIS, V5, P1143, DOI 10.1016/j.rasd.2010.12.011 NR 1 TC 0 Z9 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 311 EP 312 DI 10.1016/j.rasd.2011.06.001 PG 2 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400036 ER PT J AU Gilmour, L Schalomon, PM Smith, V AF Gilmour, Laura Schalomon, P. Melike Smith, Veronica TI Sexuality in a community based sample of adults with autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder; Sexual behaviour; Sexual orientation ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; MALE BRAIN THEORY; FETAL TESTOSTERONE; ASPERGER-SYNDROME; EMPATHY QUOTIENT; DIGIT RATIO; EYES TEST; BEHAVIOR; ORIENTATION AB Few studies have examined the sexual attitudes and behaviours of individuals with high functioning autism spectrum disorders (ASDs) living in community settings. A total of 82 (55 female and 17 male) adults with autism were contrasted with 282 members of the general population on their responses to an online survey of sexual knowledge and experiences. Findings revealed that individuals with ASD display an interest in sex and engage in sexual behaviours and showed no significant differences in breadth and strength of sexual behaviours and comprehension of sexual language when contrasted with non-ASD participants. However, despite these similarities, a higher rate of asexuality was found among individuals with ASD. In addition, the results of the current study indicated that females with ASD show a significantly lower degree of heterosexuality when compared to males with ASD. The results also suggested a higher degree of homosexuality among females with ASD although this effect did not reach significance. Crown Copyright (C) 2011 Published by Elsevier Ltd. All rights reserved. C1 [Gilmour, Laura; Schalomon, P. Melike] Grant MacEwan Univ, Dept Psychol, Edmonton, AB T5J 4S2, Canada. [Smith, Veronica] Univ Alberta, Dept Educ Psychol, Edmonton, AB T6G 2G3, Canada. RP Schalomon, PM (reprint author), Grant MacEwan Univ, Dept Psychol, 10700-104 Ave, Edmonton, AB T5J 4S2, Canada. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 313 EP 318 DI 10.1016/j.rasd.2011.06.003 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400037 ER PT J AU Kozlowski, AM Matson, JL AF Kozlowski, Alison M. Matson, Johnny L. TI An examination of challenging behaviors in autistic disorder versus pervasive developmental disorder not otherwise specified: Significant differences and gender effects SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; PDD-NOS; Challenging behavior; Aggression; Self-injurious behavior; Stereotypy ID INTELLECTUAL DISABILITY; PHYSICAL AGGRESSION; SPECTRUM DISORDERS; TOTAL POPULATION; MENTAL-RETARDATION; YOUNG-CHILDREN; RISK MARKERS; PDD-NOS; PREVALENCE; PEOPLE AB Children with Autism Spectrum Disorders (ASDs) are well-known for engagement in challenging behaviors. Unfortunately, due to its absence as a criterion for diagnosis in the DSM-IV-TR, little attention has been paid to the endorsement rates of such behaviors. However, a recently developed measure to assist in the diagnosis of infants and toddlers with autism and PDD-NOS - the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) - has included a section designated for just this reason. This study used the BISCUIT to assess for significant differences in the endorsement rates of challenging behaviors between infants and toddlers with autism versus PDD-NOS as well as for significant differences between genders. There were significant differences between the diagnostic groups in endorsement rates of challenging behaviors as a whole, as well as among many specific behavior items. No significant differences between genders in endorsement rates of challenging behaviors were found. The implications of these findings are discussed. (C) 2011 Elsevier Ltd. All rights reserved. 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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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 319 EP 325 DI 10.1016/j.rasd.2011.06.005 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400038 ER PT J AU Schlooz, WAJM Hulstijn, W AF Schlooz, Wim A. J. M. Hulstijn, Wouter TI Atypical visuomotor performance in children with PDD SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; PDD-NOS; Tourette syndrome; Visual perception; Visuomotor performance ID PERVASIVE DEVELOPMENTAL DISORDER; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; EXECUTIVE DYSFUNCTION; SPECTRUM DISORDERS; MOTOR IMPAIRMENT; DEFICIT; TASKS; INDIVIDUALS; PERCEPTION AB Children with autism spectrum disorders (ASD) frequently encounter difficulties in visuomotor tasks, which are possibly caused by atypical visuoperceptual processing. This was tested in children (aged 9-12 years) with pervasive developmental disorder (PDD; including PDD-NOS and Asperger syndrome), and two same-age control groups (Tourette syndrome and typical developers) using two tasks: a visual and non-visual tactile tracking task (modified from Hermelin & O'Connor 1970 task) and the Developmental Test of Visual-Motor Integration (VMI). Both tasks revealed marked differences between the PDD group and the controls. Confirming Hermelin and O'Connor's findings in 'classical' autism, the children with PDD were faster than the controls on the non-visual tracking task, whereas they performed similarly to the controls when they could see the tracks. However, VMI copy scores were lowest for the children with PDD, while their scores on the visual perception and motor coordination subtests did not differ from the controls. The results support observations of an atypical visuomotor performance in children with PDD, which appears to derive from a deviant use of visual information in planning and guiding movements. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Schlooz, Wim A. J. M.] Dept Child Psychiat UMC St Radboud Karakter, NL-6525 GC Nijmegen, Netherlands. [Hulstijn, Wouter] Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands. RP Schlooz, WAJM (reprint author), Reinier van Arkelgrp, Ctr Child & Adolescent Psychiat Herlaarhof, Parklaan 21,POB 10150, NL-5261 LR Vught, Netherlands. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 326 EP 336 DI 10.1016/j.rasd.2011.06.006 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400039 ER PT J AU Foss-Feig, JH Heacock, JL Cascio, CJ AF Foss-Feig, Jennifer H. Heacock, Jessica L. Cascio, Carissa J. TI Tactile responsiveness patterns and their association with core features in autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorders; Sensory; Tactile; Symptoms; Somatosensory ID REPETITIVE BEHAVIOR; TYPICAL DEVELOPMENT; JOINT ATTENTION; YOUNG-CHILDREN; SYMPTOMS; TODDLERS; CONTACT; CONTEXT; MOTHER; BIRTH AB Autism spectrum disorders (ASD) are often associated with aberrant responses to sensory stimuli, which are thought to contribute to the social, communication, and repetitive behavior deficits that define ASD. However, there are few studies that separate aberrant sensory responses by individual sensory modality to assess modality-specific associations between sensory features and core symptoms. Differences in response to tactile stimuli are prevalent in ASD, and tactile contact early in infancy is a foundation for the development of social and communication skills affected by ASD. We assessed the association between three aberrant patterns of tactile responsiveness (hyper-responsiveness, hypo-responsiveness, sensory seeking) and core symptoms of ASD. Both sensory and core features were measured with converging methods including both parent-report and direct observation. Our results demonstrate that for the tactile modality, sensory hypo-responsiveness correlates strongly with increased social and communication impairments, and to a lesser degree, repetitive behaviors. Sensory seeking was found to correlate strongly with social impairment, nonverbal communication impairment, and repetitive behaviors. Surprisingly, tactile hyper-responsiveness did not significantly correlate with any core features of ASD. This differential association between specific tactile processing patterns and core features provides an important step in defining the significance of sensory symptoms in ASD, and may be useful in the development of sensory-based approaches for early detection and intervention. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Heacock, Jessica L.; Cascio, Carissa J.] Vanderbilt Univ, Sch Med, Dept Psychiat, Nashville, TN 37212 USA. [Heacock, Jessica L.; Cascio, Carissa J.] Vanderbilt Univ, Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA. [Foss-Feig, Jennifer H.] Vanderbilt Univ, Dept cf Psychol & Human Dev, Nashville, TN 37203 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 337 EP 344 DI 10.1016/j.rasd.2011.06.007 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400040 ER PT J AU Woolfenden, S Sarkozy, V Ridley, G Williams, K AF Woolfenden, Sue Sarkozy, Vanessa Ridley, Greta Williams, Katrina TI A systematic review of the diagnostic stability of Autism Spectrum Disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Diagnostic stability; Autism; Autistic Disorder; Autism Spectrum Disorder; Children; Prognosis ID PERVASIVE DEVELOPMENTAL DISORDERS; FOLLOW-UP; YOUNG-CHILDREN; EARLY IDENTIFICATION; BEHAVIORAL-CHANGE; CHILDHOOD AUTISM; RATING-SCALE; INTERVIEW; AGE; INDIVIDUALS AB There is debate in the current literature regarding the permanence of an Autism Spectrum Disorder (ASD) diagnosis. We undertook a systematic review of the diagnostic stability of ASD to summarise current evidence, A comprehensive search strategy was used to identify studies. Participants were children with ASD. Risk of bias was assessed by examining the sample selected, recruitment method, completeness of follow up, timing of diagnosis and blinding. Twenty three studies assessed diagnostic stability with a total of 1466 participants. Fifty three to 100% of children still had a diagnosis of Autistic Disorder (AD) and 14-100% of children still had a diagnosis of another form of ASD at follow up. There is some evidence that Autistic Disorder is a reasonably stable diagnosis; however a significant minority of children will no longer meet diagnostic criteria after a period of follow up, particularly those diagnosed in the preschool years with cognitive impairment. Other Autism Spectrum Disorders have very variable stability between studies and clinicians when using this diagnosis need inform parents of its instability. This study supports the stricter diagnostic criteria in DSM-V. There is a need for long term, large population cohort studies measuring diagnostic stability. Crown Copyright (C) 2011 Published by Elsevier Ltd. All rights reserved. C1 [Woolfenden, Sue; Sarkozy, Vanessa] Univ New S Wales, Sydney, NSW 2052, Australia. [Woolfenden, Sue; Sarkozy, Vanessa; Ridley, Greta] Sydney Childrens Hosp Network, Sydney, NSW, Australia. [Williams, Katrina] Royal Childrens Hosp Melbourne, Melbourne, Vic, Australia. [Williams, Katrina] Univ Melbourne, Melbourne, Vic 3010, Australia. RP Woolfenden, S (reprint author), Sydney Childrens Hosp Network Randwick, High St, Randwick, NSW 2031, Australia. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 345 EP 354 DI 10.1016/j.rasd.2011.06.008 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400041 ER PT J AU Honey, E McConachie, H Turner, M Rodgers, J AF Honey, Emma McConachie, Helen Turner, Michelle Rodgers, Jacqui TI Validation of the repetitive behaviour questionnaire for use with children with autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Repetitive behaviour; Children; Measurement; Questionnaire ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE; OBSESSIVE-COMPULSIVE DISORDER; PRESCHOOL-CHILDREN; YOUNG-CHILDREN; 2ND YEAR; ADI-R; AGE; STEREOTYPIES AB The repetitive behaviour questionnaire (RBQ) (Turner, 1995) is one of the three most commonly used interview/questionnaire measures of repetitive behaviour (Honey et al., in preparation). Despite this there is a scarcity of information concerning its structure, reliability and validity. The psychometric properties of the RBQ were examined when used with children with an autism spectrum disorder, children of typical development and children with a learning disability. The questionnaire was found to examine two valid and reliable factors of repetitive behaviour and to have good levels of concurrent and construct validity. This novel study provides researchers and clinicians with information necessary to make decisions about the RBQ's utility and for the evaluation of conclusions drawn from existing research, which has used the RBQ. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Rodgers, Jacqui] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [Honey, Emma; McConachie, Helen] Newcastle Univ, Royal Victoria Infirm, Sir James Spence Inst, Inst Hlth & Soc, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England. [Turner, Michelle] Univ Durham, Durham DH1 3LE, England. RP Rodgers, J (reprint author), Newcastle Univ, Inst Neurosci, Ridley Bldg, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. 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S., 2006, TETRACHORIC POLYCHOR Watson LR, 2007, J AUTISM DEV DISORD, V37, P49, DOI 10.1007/s10803-006-0334-4 Watt N, 2008, J AUTISM DEV DISORD, V38, P1518, DOI 10.1007/s10803-007-0532-8 Werner E, 2005, ARCH GEN PSYCHIAT, V62, P889, DOI 10.1001/archpsyc.62.8.889 Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x Zandt F, 2007, J AUTISM DEV DISORD, V37, P251, DOI 10.1007/s10803-006-0158-2 Zandt F, 2009, AUTISM, V13, P43, DOI 10.1177/1362361308097120 NR 57 TC 10 Z9 10 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 355 EP 364 DI 10.1016/j.rasd.2011.06.009 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400042 ER PT J AU Conallen, K Reed, P AF Conallen, Kevin Reed, Phil TI The effects of a conversation prompt procedure on independent play SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Conversation prompt; Conditioned reinforcement; Non-preferred play; Private events ID SCRIPT-FADING PROCEDURE; LANGUAGE IMPAIRMENT; CHALLENGING BEHAVIOR; SOCIAL-BEHAVIOR; AUTISM; CHILDREN; SKILLS; EMOTION AB This study used a multiple baseline design (ABCAD) to determine whether teaching children with autistic spectrum disorders (ASD) to tact private events would function as a conditioned reinforcer for teaching non-preferred play activities. In this study, 10 children, aged between 5.3 and 8.9 years of age, were taught to tact a set of private events (e.g., fun, bored, easy, hard) after engaging in selected preferred, and non-preferred, play activities. These 'typical' language exchanges were built into existing individual activity play schedules, and were designed to prompt a conversational unit after a play period of up to 10 min. This conversational unit was designed to serve as a conditioned reinforcer for the activity under observation. The results show that having access to a set of tacts for putatively private events could function as a conditioned reinforcer when teaching non-preferred play activities, reduced off-task play behavior, while revealing a measurable increase in spontaneous language, emitted both during the targeted play sessions. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Reed, Phil] Swansea Univ, Dept Psychol, Swansea SA2 8PP, W Glam, Wales. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 365 EP 377 DI 10.1016/j.rasd.2011.06.010 PG 13 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400043 ER PT J AU LoVullo, SV Matson, JL AF LoVullo, Santino V. Matson, Johnny L. TI Development of a critical item algorithm for the Baby and Infant Screen for Children with aUtIsm Traits SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorders; BISCUIT; Scoring algorithm; Screening; Assessment ID INTELLECTUALLY DISABLED ADULTS; 15-YEAR FOLLOW-UP; SPECTRUM DISORDERS; PDD-NOS; DIAGNOSTIC SUBSTITUTION; YOUNG-CHILDREN; PREVALENCE; CHECKLIST; TODDLERS; AGE AB Autism is defined by impairments in socialization, communication, with the presence of stereotyped behavior. It is also associated with various medical conditions, intellectual disability, comorbid psychopathology, and problem behavior. This is a concerning finding in that there may be a true increase in the disorder's prevalence and that it is associated with poor long-term outcomes. Fortunately, effective treatments exist that can alter the course of the disorder if administered early in a child's life. A method to facilitate early intervention is through the early screening of autism with instruments such as the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT). The primary purpose of the current investigation was to further develop the utility of the BISCUIT by creating an abbreviated scoring algorithm. Participants included 2168 children ages 17-37 with an autism spectrum disorder or atypical development enrolled in an early intervention program. Discriminant function analysis (DFA) and receiver operating characteristic (ROC) analysis were conducted resulting in a 5 item scoring algorithm with comparable diagnostic accuracy to the existing scoring procedure. Implications for these data and directions for further research are discussed. (C) 2011 Elsevier Ltd. All rights reserved. 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 Bellini S., 2004, FOCUS AUTISM OTHER D, V19, P78, DOI DOI 10.1177/10883576040190020201 Briegel W, 2010, RES DEV DISABIL, V31, P1462, DOI 10.1016/j.ridd.2010.06.012 Cederlund M, 2010, RES DEV DISABIL, V31, P287, DOI 10.1016/j.ridd.2009.09.006 Coo H, 2008, J AUTISM DEV DISORD, V38, P1036, DOI 10.1007/s10803-007-0478-x Coonrod EE, 2005, HDB AUTISM PERVASIVE, P707 Croen LA, 2002, J AUTISM DEV DISORD, V32, P207, DOI 10.1023/A:1015453830880 Dawson JE, 1998, RES DEV DISABIL, V19, P439, DOI 10.1016/S0891-4222(98)00016-X FENSKE EC, 1985, ANAL INTERVEN DEVEL, V5, P49, DOI 10.1016/S0270-4684(85)80005-7 Fernell E, 2010, RES DEV DISABIL, V31, P680, DOI 10.1016/j.ridd.2010.01.007 Fombonne E, 2004, BMC PUBLIC HEALTH, V4, DOI 10.1186/1471-2458-4-5 Ghaziuddin M, 2002, J AUTISM DEV DISORD, V32, P299, DOI 10.1023/A:1016330802348 GILLBERG C, 1987, J AUTISM DEV DISORD, V17, P273, DOI 10.1007/BF01495061 Gillberg C, 2010, RES DEV DISABIL, V31, P1543, DOI 10.1016/j.ridd.2010.06.002 Harris SL, 2000, J AUTISM DEV DISORD, V30, P137, DOI 10.1023/A:1005459606120 Hertz-Picciotto I, 2009, EPIDEMIOLOGY, V20, P84, DOI 10.1097/EDE.0b013e3181902d15 Howlin P, 2004, J CHILD PSYCHOL PSYC, V45, P212, DOI 10.1111/j.1469-7610.2004.00215.x JACOBSON NS, 1991, J CONSULT CLIN PSYCH, V59, P12, DOI 10.1037//0022-006X.59.1.12 KLIN A, 1992, J CHILD PSYCHOL PSYC, V33, P861, DOI 10.1111/j.1469-7610.1992.tb01961.x La Malfa G, 2007, RES AUTISM SPECT DIS, V1, P218, DOI 10.1016/j.rasd.2006.10.004 LOCKYER L, 1969, BRIT J PSYCHIAT, V115, P865, DOI 10.1192/bjp.115.525.865 LOCKYER L, 1970, BRIT J SOC CLIN PSYC, V9, P152 Lotter V., 1966, SOC PSYCHIAT, P124, DOI DOI 10.1007/BF00584048 Matson J. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 378 EP 384 DI 10.1016/j.rasd.2011.06.011 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400044 ER PT J AU Kozlowski, AM Matson, JL Belva, B Rieske, R AF Kozlowski, Alison M. Matson, Johnny L. Belva, Brian Rieske, Robert TI Feeding and sleep difficulties in toddlers with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorders; Autistic Disorder; PDD-NOS; Feeding; Sleep ID BEHAVIOR PROBLEMS; YOUNG-CHILDREN; INFANT SCREEN; BABY AB Children with autism spectrum disorders (ASD) present with a variety of comorbid difficulties, some of which relate to seemingly simply activities of daily living. Feeding and sleep difficulties are purportedly common within the ASD population, although the association between these problems and ASD symptomatology has rarely been addressed. The current study examined the feeding and sleep difficulties of 1747 toddlers who had a diagnosis of Autistic Disorder (n = 506), PDD-NOS (n = 522), or atypical development (n = 719) using the Baby and Infant Screen for Children with aUtIsm Traits-Part 2, a screening tool designed to identify comorbid difficulties of toddlers with ASD and/or atypical development. Individuals with Autistic Disorder were found to exhibit significantly more feeding and sleep difficulties than those with PDD-NOS, who in turn presented with more difficulties of this type than those with atypical development. While developmental quotient (DQ) was also related to feeding and sleep difficulties, DQ could not account for the differences between these groups. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Kozlowski, Alison M.; Matson, Johnny L.; Belva, Brian; Rieske, Robert] 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 Al Anbar NN, 2010, RES DEV DISABIL, V31, P817, DOI 10.1016/j.ridd.2010.02.007 Cederlund M, 2010, RES DEV DISABIL, V31, P287, DOI 10.1016/j.ridd.2009.09.006 Couturier JL, 2005, J AM ACAD CHILD PSY, V44, P815, DOI 10.1097/01.chi.0000166377.22651.87 Eikeseth S, 2009, RES DEV DISABIL, V30, P158, DOI 10.1016/j.ridd.2008.02.003 Fabio RA, 2009, RES DEV DISABIL, V30, P136, DOI 10.1016/j.ridd.2008.01.003 Fernell E, 2010, RES DEV DISABIL, V31, P680, DOI 10.1016/j.ridd.2010.01.007 Fernell E, 2010, RES DEV DISABIL, V31, P790, DOI 10.1016/j.ridd.2010.02.003 Field D, 2003, J PAEDIATR CHILD H, V39, P299, DOI 10.1046/j.1440-1754.2003.00151.x Gabriels RL, 2008, RES AUTISM SPECT DIS, V2, P660, DOI 10.1016/j.rasd.2008.02.002 Gillberg C, 2010, RES DEV DISABIL, V31, P1543, DOI 10.1016/j.ridd.2010.06.002 Johnson CR, 2008, J DEV PHYS DISABIL, V20, P437, DOI 10.1007/s10882-008-9111-y Krakowiak P, 2008, J SLEEP RES, V17, P197, DOI 10.1111/j.1365-2869.2008.00650.x Kuhn DE, 2004, BEHAV MODIF, V28, P638, DOI 10.1177/0145445503259833 Matson J. L., 2007, BABY INFANT SCREEN C Matson JL, 2009, RES AUTISM SPECT DIS, V3, P924, DOI 10.1016/j.rasd.2009.04.001 Matson JL, 2011, J AUTISM DEV DISORD, V41, P1139, DOI 10.1007/s10803-010-0973-3 Matson JL, 2009, RES AUTISM SPECT DIS, V3, P759, DOI 10.1016/j.rasd.2009.02.005 Matson JL, 2009, RES AUTISM SPECT DIS, V3, P336, DOI 10.1016/j.rasd.2008.08.001 Matson JL, 2010, RES AUTISM SPECT DIS, V4, P400, DOI 10.1016/j.rasd.2009.10.010 Matson JL, 2009, RES DEV DISABIL, V30, P1107, DOI 10.1016/j.ridd.2009.06.003 Matson JL, 2007, RES AUTISM SPECT DIS, V1, P75, DOI 10.1016/j.rasd.2006.09.001 Matson JL, 2010, RES DEV DISABIL, V31, P464, DOI 10.1016/j.ridd.2009.10.014 Matson JL, 2010, DEV NEUROREHABIL, V13, P72, DOI 10.3109/17518420903213576 Matson JL, 2011, RES AUTISM SPECT DIS, V5, P426, DOI 10.1016/j.rasd.2010.06.005 Matson JL, 2009, RES AUTISM SPECT DIS, V3, P455, DOI 10.1016/j.rasd.2008.09.005 Matson JL, 2009, RES DEV DISABIL, V30, P1203, DOI 10.1016/j.ridd.2009.04.001 Mayes SD, 2009, SLEEP MED CLIN, V4, P19 Mayes SD, 2009, RES AUTISM SPECT DIS, V3, P931, DOI 10.1016/j.rasd.2009.04.002 Newborg J, 2005, BATTELLE DEV INVENTO Oeseburg B, 2010, RES DEV DISABIL, V31, P496, DOI 10.1016/j.ridd.2009.10.018 Schmitt L., 2008, Topics in Clinical Nutrition, V23, P23 Schreck KA, 2004, J AUTISM DEV DISORD, V34, P433, DOI 10.1023/B:JADD.0000037419.78531.86 Smith KRM, 2010, RES DEV DISABIL, V31, P1062, DOI 10.1016/j.ridd.2010.04.003 Smith KRM, 2010, RES DEV DISABIL, V31, P1366, DOI 10.1016/j.ridd.2010.07.002 Williams KE, 2010, RES DEV DISABIL, V31, P625, DOI 10.1016/j.ridd.2010.01.001 NR 35 TC 9 Z9 9 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 385 EP 390 DI 10.1016/j.rasd.2011.06.012 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400045 ER PT J AU Price, KJ Shiffrar, M Kerns, KA AF Price, Kelly J. Shiffrar, Maggie Kerns, Kimberly A. TI Movement perception and movement production in Asperger's Syndrome SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder (ASD); Asperger's Syndrome (AS); Motor skills; Motion perception; Biological motion ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; BIOLOGICAL MOTION; VISUAL-PERCEPTION; MOTOR IMPAIRMENT; CHILDREN; COHERENCE; FORM; INDIVIDUALS; RECOGNITION AB To determine whether motor difficulties documented in Asperger's Syndrome (AS) are related to compromised visual abilities, this study examined perception and movement in response to dynamic visual environments. Fourteen males with AS and 16 controls aged 7-23 completed measures of motor skills, postural response to optic flow, and visual sensitivity to static form and coherent motion in random dot kinematograms and point-light walkers. No group differences were found in sensitivity to static form or coherent motion. However, significant group differences were found in visual sensitivity to human movement and postural responsivity to optic flow, which both correlated with motor skills. This may suggest difficulties in perception and production of movement and dysfunctional perceptual-motor linkages in AS. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Price, Kelly J.] Univ British Columbia, Dept Psychiat, Vancouver, BC, Canada. [Shiffrar, Maggie] Rutgers State Univ, Dept Psychol, Newark, NJ 07102 USA. [Kerns, Kimberly A.] Univ Victoria, Dept Psychol, Victoria, BC, Canada. RP Price, KJ (reprint author), Queen Alexandra Ctr Childrens Hlth, 2400 Arbutus Rd, Victoria, BC V8N 1V7, Canada. EM kprice@uvic.ca CR Blake R, 2003, PSYCHOL SCI, V14, P151, DOI 10.1111/1467-9280.01434 Creelman C. D., 1991, DETECTION THEORY USE Davis RAO, 2006, J AUTISM DEV DISORD, V36, P199, DOI 10.1007/s10803-005-0055-0 Dean R. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 391 EP 398 DI 10.1016/j.rasd.2011.06.013 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400046 ER PT J AU Evans, EW Must, A Anderson, SE Curtin, C Scampini, R Maslin, M Bandini, L AF Evans, E. Whitney Must, Aviva Anderson, Sarah E. Curtin, Carol Scampini, Renee Maslin, Melissa Bandini, Linda TI Dietary patterns and body mass index in children with autism and typically developing children SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Dietary patterns; Pediatrics; Obesity; Autism spectrum disorders; BMI z-score ID SPECTRUM DISORDERS; FOOD SELECTIVITY; US CHILDREN; EATING BEHAVIORS; ADOLESCENTS; CONSUMPTION; OVERWEIGHT; OBESITY; WEIGHT; PREVALENCE AB To determine whether dietary patterns (juice and sweetened non-dairy beverages, fruits, vegetables, fruits and vegetables, snack foods, and kid's meals) and associations between dietary patterns and body mass index (BMI) differed between 53 children with autism spectrum disorders (ASD) and 58 typically developing children, ages 3-11, multivariate regression models including interaction terms were estimated. Children with ASD were found to consume significantly more daily servings of sweetened beverages (2.6 versus 1.7, p=0.03) and snack foods (4.0 versus 3.0, p=0.01) and significantly fewer daily servings of fruits and vegetables (3.1 versus 4.4, p=0.006) than typically developing children. There was no evidence of statistical interaction between any of the dietary patterns and BMI z-score with autism status. Among all children, fruits and vegetables (p = 0.004) and fruits alone (p = 0.005) were positively associated with BMI z-score in our multivariate models. Children with ASD consume more energy-dense foods than typically developing children; however, in our sample, only fruits and vegetables were positively associated with BMI z-score. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Evans, E. Whitney] Tufts Univ, Friedman Sch Nutr Sci & Policy, Boston, MA 02111 USA. [Evans, E. Whitney; Must, Aviva] Tufts Univ, Sch Med, Boston, MA 02111 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 399 EP 405 DI 10.1016/j.rasd.2011.06.014 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400047 ER PT J AU Strang, JF Kenworthy, L Daniolos, P Case, L Wills, MC Martin, A Wallace, GL AF Strang, John F. Kenworthy, Lauren Daniolos, Peter Case, Laura Wills, Meagan C. Martin, Alex Wallace, Gregory L. TI Depression and anxiety symptoms in children and adolescents with autism spectrum disorders without intellectual disability SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Children; Adolescents; Depression; Anxiety; IQ ID PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; PSYCHIATRIC-DISORDERS; COMORBIDITY; PREVALENCE; PARENT; FRIENDSHIP; VERSION; PEOPLE AB Recent studies have shown that rates of depression and anxiety symptoms are elevated among individuals with autism spectrum disorders (ASDs) of various ages and IQs and that depression/anxiety symptoms are associated with higher IQ and fewer ASD symptoms. In this study which examined correlates of depression and anxiety symptoms in the full school-age range of children and adolescents (age 6-18) with ASDs and IQs >= 70 (n = 95), we also observed elevated rates of depression/anxiety symptoms, but we did not find higher IQ or fewer ASD symptoms among individuals with ASDs and depression or anxiety symptoms. These findings indicate an increased risk for depression/anxiety symptoms in children and adolescents with ASDs without intellectual disability, regardless of age, IQ, or ASD symptoms. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Strang, John F.; Kenworthy, Lauren; Daniolos, Peter; Wills, Meagan C.] Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, Rockville, MD 20850 USA. [Case, Laura; Martin, Alex; Wallace, Gregory L.] NIMH, Lab Brain & Cognit, Bethesda, MD 20892 USA. RP Strang, JF (reprint author), Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, 15245 Shady Grove Rd,Suite 350, Rockville, MD 20850 USA. 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Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 406 EP 412 DI 10.1016/j.rasd.2011.06.015 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400048 ER PT J AU Tsai, FJ Chiang, HL Lee, CM Gau, SSF Lee, WT Fan, PC Wu, YY Chiu, YN AF Tsai, Fang-Ju Chiang, Huey-Ling Lee, Chi-Mei Gau, Susan Shur-Fen Lee, Wang-Tso Fan, Pi-Chuan Wu, Yu-Yu Chiu, Yen-Nan TI Sleep problems in children with autism, attention-deficit hyperactivity disorder, and epilepsy SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorders; Attention-deficit/hyperactivity disorder; Epilepsy; Sleep problems; Children ID DEFICIT/HYPERACTIVITY DISORDER; SPECTRUM DISORDERS; ASSOCIATION; ADOLESCENTS; SYMPTOMS; TAIWAN; IMPACT; COMORBIDITY; PREVALENCE; PERSISTENT AB This study aimed to examine sleep problems in children with autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), and epilepsy in clinical settings. We assessed 64 children with ASD, 64 with ADHD, 64 with epilepsy, and 64 typically developing children without any neuropsychiatric disorders by using a sex-and age-matched case-control study design. The parents reported their children's sleep problems. Parents of children with ASD and ADHD reported more current and lifetime sleep problems of their children than parents of children with epilepsy, especially in snoring and restless legs syndrome. Current or lifetime sleep problems did not differ between children with ASD and children with ADHD, or between children with epilepsy and typically developing children. Demographic characteristics and medication status could not fully explain the increased risk of sleep problems in children with ASD and ADHD. Our findings lend evidence to support more sleep problems in children with ASD and ADHD than typically developing children. Our study adds that children with epilepsy do not. These findings emphasize the importance to assess sleep problems in children with neurodevelopmental disorders highly comorbid with ASD or ADHD in clinical practice. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Tsai, Fang-Ju; Chiang, Huey-Ling; Lee, Chi-Mei; Gau, Susan Shur-Fen; Chiu, Yen-Nan] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan. [Tsai, Fang-Ju] En Chu Kong Hosp, Dept Psychiat, New Taipei City, Taiwan. [Chiang, Huey-Ling] New Taipei City Hosp, Dept Psychiat, Taipei, Taiwan. [Lee, Chi-Mei] Eastern Michigan Univ, Dept Psychiat, Ypsilanti, MI 48197 USA. [Gau, Susan Shur-Fen] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei, Taiwan. [Lee, Wang-Tso; Fan, Pi-Chuan] Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10002, Taiwan. [Wu, Yu-Yu] Chang Gung Univ, Coll Med, Chang Gung Mem Hosp, Linkou Med Ctr,Dept Child Psychiat, Tao Yuan, Taiwan. RP Gau, SSF (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan S Rd, Taipei 10002, Taiwan. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 413 EP 421 DI 10.1016/j.rasd.2011.07.002 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400049 ER PT J AU Reed, FDD Hirst, JM Hyman, SR AF Reed, Florence D. DiGennaro Hirst, Jason M. Hyman, Sarah R. TI Assessment and treatment of stereotypic behavior in children with autism and other developmental disabilities: A thirty year review SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism; Stereotypy; Self-stimulatory behavior ID SELF-STIMULATORY BEHAVIOR; AUTOMATICALLY REINFORCED STEREOTYPY; VOCAL STEREOTYPY; DIFFERENTIAL REINFORCEMENT; MATCHED STIMULATION; RETARDED PERSONS; FUNCTIONAL-ANALYSIS; INJURIOUS-BEHAVIOR; TEACHING-CHILDREN; APPROPRIATE PLAY AB A defining feature of children with autism includes stereotypy, characterized as restrictive and repetitive vocal and motor behavior. The current literature review seeks to (a) determine the number of empirical studies using behavioral interventions to treat stereotypy exhibited by children with autism or other pervasive development disorder, (b) identify the assessment techniques used to determine the function of stereotypy, (c) broadly categorize the treatment procedures, (d) summarize findings of other relevant variables (e.g., participant demographics, experimental setting, change agents used, and topography of stereotypy), and (e) determine the number of studies reporting reliability of the independent variables. Results indicate that a wide variety of stereotypies are represented in the published literature. A majority of studies do not rely on a functional assessment to guide intervention planning and consequence-based approaches are the most common treatment technique. Similar to previous research, measurement of reliability of the independent variables is uncommon. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Reed, Florence D. DiGennaro] Univ Kansas, Dept Appl Behav Sci, Dole Human Dev Ctr 4001, Lawrence, KS 66045 USA. RP Reed, FDD (reprint author), Univ Kansas, Dept Appl Behav Sci, Dole Human Dev Ctr 4001, 1000 Sunnyside Ave, Lawrence, KS 66045 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 422 EP 430 DI 10.1016/j.rasd.2011.07.003 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400050 ER PT J AU Flynn, L Healy, O AF Flynn, Lorna Healy, Olive TI A review of treatments for deficits in social skills and self-help skills in autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism spectrum disorder; Social skills; Self-help skills ID DAILY LIVING SKILLS; HIGH-FUNCTIONING AUTISM; PURCHASING SKILLS; YOUNG-CHILDREN; PEERS; SETTINGS; INTERVENTIONS; BEHAVIORS; STUDENTS; TUTORS AB Deficits in social skills and self-help skills present significant challenges for individuals diagnosed with autism spectrum disorders (ASD). Much research in Applied Behavior Analysis (ABA) has been devoted to treatments for deficits in social skills and there exist a number of extensive reviews on the research in this area. Some research has also been conducted in the treatment of self-help skills although no comprehensive reviews of this research have been conducted. A combined acquisition of social and self-help kills is required by individuals diagnosed with ASD for successful independent living in society. The current literature review provides a comprehensive investigation and examination of studies focused on interventions for deficits in social skills or self-help skills in those with ASD. Twenty-two studies that met the inclusion criteria were chosen. Studies were categorised based on intervention. Key studies were defined as studies that added something novel to the literature, rather than replicating previous research. Each study was then evaluated on a number of aspects. All studies showed positive outcomes. Strengths, limitations and future recommendations are discussed. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Flynn, Lorna; Healy, Olive] Natl Univ Ireland, Sch Psychol, Galway, Ireland. RP Healy, O (reprint author), Natl Univ Ireland, Sch Psychol, Cairnes Bldg,Univ Rd, Galway, Ireland. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 431 EP 441 DI 10.1016/j.rasd.2011.06.016 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400051 ER PT J AU Muratori, F Calderoni, S Apicella, F Filippi, T Santocchi, E Calugi, S Cosenza, A Tancredi, R Narzisi, A AF Muratori, Filippo Calderoni, Sara Apicella, Fabio Filippi, Tiziana Santocchi, Elisa Calugi, Simona Cosenza, Angela Tancredi, Raffaella Narzisi, Antonio TI Tracing back to the onset of abnormal head circumference growth in Italian children with autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorders; Children; Head circumference; Biomarker ID BODY-MASS INDEX; AGE 2 YEARS; 1ST YEAR; BRAIN SIZE; ENVIRONMENTAL-FACTORS; INFANTILE-AUTISM; WHITE-MATTER; LIFE; OVERGROWTH; DIAGNOSIS AB This retrospective study aims to describe head circumference (HC) developmental course during the first year of life in 50 Italian children with autism spectrum disorder (ASD) and in a control group of 100 typically developing children (TD). To this end, we use anthropometric measurements (HC, body height, body weight) obtained at birth (TO), 1-2 months (T1), 3-5 months (T2) and 6-12 months (T3) from paediatricians and reported in the infant's 'baby book'. Data indicate that at T2 and T3 HC was significantly greater in ASD group compared to TD, while from Ti weight was significantly smaller in ASD subjects compared to healthy infants. After controlling for weight and height, ASD HC shows an excessive rate of growth from birth. The abnormal HC growth is present in the majority of infants with ASD and could represent a biomarker that together with other clinical signs might promote an early ASD identification. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Calderoni, Sara] Univ Pisa, Div Child Neurol & Psychiat, Stella Maris Sci Inst, I-56018 Pisa, Italy. [Muratori, Filippo; Calderoni, Sara; Apicella, Fabio; Filippi, Tiziana; Santocchi, Elisa; Calugi, Simona; Cosenza, Angela; Tancredi, Raffaella; Narzisi, Antonio] IRCCS Stella Maris Fdn, Pisa, Italy. RP Calderoni, S (reprint author), Univ Pisa, Div Child Neurol & Psychiat, Stella Maris Sci Inst, Via Giacinti 2, I-56018 Pisa, Italy. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 442 EP 449 DI 10.1016/j.rasd.2011.07.004 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400052 ER PT J AU Bishop, MR Kenzer, AL AF Bishop, Michele R. Kenzer, Amy L. TI Teaching behavioral therapists to conduct brief preference assessments during therapy sessions SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Preference assessment; Autism; Staff training ID STIMULUS PREFERENCE; TRAINING STAFF; DISABILITIES AB The purpose of this study was to examine group classroom instruction and the need for in vivo feedback when teaching 11 behavioral therapists how to conduct a brief paired-stimulus preference assessment, when to conduct preference assessments, and how to interpret the data during regular therapy sessions. Group classroom instruction, consisting of lecture, video modeling, role-play and feedback with a simulated client, was sufficient for seven participants and in vivo feedback was necessary for four participants. Accurate performance was maintained at a 4 week follow-up for 8 participants. Data show that following skill acquisition there was an increase in the variety of stimuli assessed which presents an opportunity to identify diverse preferences. Additionally, each brief paired-stimulus preference assessment took less than 30s to complete, suggesting that it is practical for therapists to regularly assess preference during their therapy sessions. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Bishop, Michele R.; Kenzer, Amy L.] Ctr Autism & Related Disorders Inc, Phoenix, AZ 85008 USA. RP Bishop, MR (reprint author), Ctr Autism & Related Disorders Inc, 1620N 48th St, Phoenix, AZ 85008 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 450 EP 457 DI 10.1016/j.rasd.2011.07.005 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400053 ER PT J AU Reel, KH Lecavalier, L Butter, E Mulick, JA AF Reel, Kristy H. Lecavalier, Luc Butter, Eric Mulick, James A. TI Diagnostic utility of the Pervasive Developmental Disorder Behavior Inventory SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Diagnosis; PDDBI; Assessment; Screening; Validity ID AUTISM SPECTRUM DISORDERS; SCREENING QUESTIONNAIRE; RATING-SCALE; CHILDREN; VALIDITY AB This study assessed the diagnostic utility of the Pervasive Developmental Disorder Behavior Inventory (PDDBI) in a sample of 84 children aged 3-12 years of age. Forty-two children with ASD were individually matched on age and non-verbal IQ to 42 children with other disabilities and groups were compared on PDDBI subscales and total score. Results indicated that the groups differed on the total score and on only one of the 14 subscales. Optimal sensitivity and specificity were achieved using a cutoff score of 45 on the Autism Composite T-score. Diagnostic accuracy was not good (sensitivity = .74, specificity = .62, efficiency = .68), but better in individuals with NVIQ < 70. We do not recommend the PDDBI for diagnostic screening. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Reel, Kristy H.; Lecavalier, Luc] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA. [Reel, Kristy H.; Lecavalier, Luc] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA. [Butter, Eric; Mulick, James A.] Ohio State Univ, Nationwide Childrens Hosp, Child Dev Ctr, Westerville, OH 43081 USA. 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TI The relationship between gender and age of first concern in toddlers with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE ASD; Gender; Sex; First concern; BISCUIT ID PERVASIVE DEVELOPMENTAL DISORDERS; II DASH-II; SEX-DIFFERENCES; INTELLECTUAL DISABILITY; DIAGNOSTIC-ASSESSMENT; MENTAL-RETARDATION; ASPERGERS SYNDROME; YOUNG-CHILDREN; BEHAVIOR; ADULTS AB The age at which parents first developed concerns over their child's development was examined in 965 toddlers with autism spectrum disorders (ASD) and atypical development to examine the potential role of gender. A two-way analysis of covariance was conducted with gender and diagnosis entered as independent variables, age at assessment entered as a covariate, and age of parents first concerns entered as the dependent variable. The average age of parents' first concerns was significantly younger for females when compared to males. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 466 EP 471 DI 10.1016/j.rasd.2011.06.017 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400055 ER PT J AU Kozlowski, AM Matson, JL Worley, JA Sipes, M Horovitz, M AF Kozlowski, Alison M. Matson, Johnny L. Worley, Julie A. Sipes, Megan Horovitz, Max TI Defining characteristics for young children meeting cutoff on the modified checklist for autism in toddlers SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE ASD; Autism; Early diagnosis; BISCUIT; M-CHAT; BDI-II ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; SOCIAL-SKILLS; INFANT SCREEN; DISABILITIES; STABILITY; BISCUIT; BABY AB Early diagnosis of Autism Spectrum Disorders (ASDs) is crucial so that early intervention services, which have been found to best alleviate symptoms of ASD in children, can be implemented. Currently, the Modified Checklist for Autism in Toddlers (M-CHAT) and the Baby and Infant Screen for Children with aUtIsm Traits-Part 1 (BISCUIT-Part 1) are the most widely researched ASD measures in early childhood. However, the M-CHAT provides many false positive results as it is solely used as a screening instrument as opposed to a diagnostic measure, while the BISCUIT-Part 1 appears to have more diagnostic fidelity. The current study examined 243 toddlers who failed the M-CHAT screener and were therefore referred for further evaluation. Upon further evaluation, 141 of the toddlers were diagnosed with an ASD while the remaining 102 were not. Characteristics differentiating these two groups on the M-CHAT, BISCUIT-Part 1, and Battelle Developmental Inventory, Second Edition (BDI-II) were examined with analyses supporting the hypotheses that children in the ASD group had higher M-CHAT and BISCUIT-Part 1 scores in conjunction with lower BDI-II scores. Based on these results, the incremental predictive validity of the M-CHAT was assessed; the BISCUIT-Part 1 was found to be more accurate in arriving at ASD diagnoses. The implications of these findings are discussed. (C) 2011 Elsevier Ltd. All rights reserved. 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 American Psychiatric Association, 2000, DIAGN STAT MAN MENT American Psychiatric Association, 2011, DSM-V BARONCOHEN S, 1992, BRIT J PSYCHIAT, V161, P839, DOI 10.1192/bjp.161.6.839 Briegel W, 2010, RES DEV DISABIL, V31, P1462, DOI 10.1016/j.ridd.2010.06.012 Chawarska K, 2007, J CHILD PSYCHOL PSYC, V48, P128, DOI 10.1111/j.1469-7610.2006.01685.x Duffy C, 2011, RES AUTISM SPECT DIS, V5, P977, DOI 10.1016/j.rasd.2010.12.005 Feldman R. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 472 EP 479 DI 10.1016/j.rasd.2011.07.007 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400056 ER PT J AU Lequia, J Machalicek, W Rispoli, MJ AF Lequia, Jenna Machalicek, Wendy Rispoli, Mandy J. TI Effects of activity schedules on challenging behavior exhibited in children with autism spectrum disorders: A systematic review SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Activity schedule; Autism; Challenging behavior; Literature review; Picture schedule ID PHOTOGRAPHIC ACTIVITY SCHEDULES; NONCONTINGENT REINFORCEMENT; DIFFERENTIAL REINFORCEMENT; INCREASING PLAY; ENGAGEMENT; TASK; TRANSITIONS; EXTINCTION; CLASSROOM; CHOICE AB We reviewed studies implementing activity schedules to decrease challenging behavior of children with autism spectrum disorders (ASD). Systematic searches of electronic databases, journals, and reference lists identified 18 studies meeting the inclusion criteria. These studies were evaluated in terms of the effectiveness of activity schedules to decrease challenging behavior on the basis of forms and purposes of activity schedules, various settings in which the activity schedule was applied, severity of ASD diagnosis, and communication abilities of the participants. Activity schedules were implemented to decrease challenging behavior in 43 participants aged three to 18 years. Activity schedules included photographs, line drawings, and videos intending to promote self-regulation, independence, transitions, or play skills. Regardless of the form and intended purpose of the activity schedule, they proved effective in reducing challenging behavior in each of the reviewed studies. There was some variation in effectiveness of the activity schedules across settings, severity of ASD diagnosis, and communication abilities. Included studies are summarized and evaluated in terms of effectiveness across the aforementioned variables. Implications and suggestions for future research on the use of activity schedules to decrease challenging behavior are discussed. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Lequia, Jenna; Machalicek, Wendy] Univ Wisconsin Madison, Madison, WI USA. [Rispoli, Mandy J.] Texas A&M Univ, College Stn, TX 77843 USA. RP Machalicek, W (reprint author), 5261 Univ Oregon, Eugene, OR 97403 USA. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 480 EP 492 DI 10.1016/j.rasd.2011.07.008 PG 13 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400057 ER PT J AU Klintwall, L Eikeseth, S AF Klintwall, Lars Eikeseth, Svein TI Number and controllability of reinforcers as predictors of individual outcome for children with autism receiving early and intensive behavioral intervention: A preliminary study SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Predicting outcome; Reinforcers; Applied behavior analysis; Early intervention ID DEVELOPMENTALLY DISABLED-CHILDREN; SELF-STIMULATORY BEHAVIOR; YOUNG-CHILDREN AB Although Early and Intensive Behavioral Intervention (EIBI) is an effective treatment for many children with autism, there is a substantial individual difference in outcome. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 493 EP 499 DI 10.1016/j.rasd.2011.07.009 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400058 ER PT J AU Shimada, T Kitamoto, A Todokoro, A Ishii-Takahashi, A Kuwabara, H Kim, SY Watanabe, K Minowa, I Someya, T Ohtsu, H Osuga, Y Kano, Y Kasai, K Kato, N Sasaki, T AF Shimada, Takafumi Kitamoto, Atsushi Todokoro, Ayako Ishii-Takahashi, Ayaka Kuwabara, Hitoshi Kim, Soo-Yung Watanabe, Kei-ichiro Minowa, Iwao Someya, Toshikazu Ohtsu, Hiroshi Osuga, Yutaka Kano, Yukiko Kasai, Kiyoto Kato, Nobumasa Sasaki, Tsukasa TI Parental age and assisted reproductive technology in autism spectrum disorders, attention deficit hyperactivity disorder, and Tourette syndrome in a Japanese population SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Attention deficit hyperactivity disorder burette syndrome; Parental age; Assisted reproductive technology; Japanese population ID PATERNAL AGE; CHILDREN BORN; RISK; BIRTH; PREGNANCIES; ADHD AB We investigated whether advanced parental age and assisted reproductive technology (ART) are risk factors in autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and burette syndrome (TS). Clinical charts of Japanese outpatients with ASD (n = 552), ADHD = 87), and TS = 123) were reviewed. Parental age of individuals with ASD, ADHD, or TS was compared with parental age in the general population (GP) of Tokyo after adjusting for year of birth. Paternal and maternal ages were significantly higher in persons with ASD and ADHD, but not those with TS. In final steps of stepwise logistic regression analysis, both maternal and paternal age were associated with ASD after controlling for the other parent's age, gender, and birth order. In cases where the presence or absence of ART could be ascertained (ASD n = 467: ADHD n = 64; TS n = 83), the rate of ART in cases of persons with ASD (4.5%) was 1.8 times the frequency expected in the GP, while ART was not present in cases of persons with ADHD and TS. These preliminary results remain tentative pending replication with larger, community-based samples. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Sasaki, Tsukasa] Univ Tokyo, Grad Sch Educ, Div Phys & Hlth Educ, Bunkyo Ku, Tokyo 1130033, Japan. [Shimada, Takafumi; Todokoro, Ayako; Ishii-Takahashi, Ayaka; Minowa, Iwao; Someya, Toshikazu; Kasai, Kiyoto] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo 1130033, Japan. [Kitamoto, Atsushi] Univ Tokyo, Fac Educ, Tokyo 1130033, Japan. [Kuwabara, Hitoshi; Kim, Soo-Yung; Kano, Yukiko] Univ Tokyo, Grad Sch Med, Dept Child Psychiat, Tokyo 1130033, Japan. [Watanabe, Kei-ichiro] Univ Tokyo, Off Mental Hlth Support, Tokyo 1130033, Japan. [Ohtsu, Hiroshi] Univ Tokyo, Grad Sch Med, Dept Clin Trial Data Management, Tokyo 1130033, Japan. [Osuga, Yutaka] Univ Tokyo, Fac Med, Dept Obstet & Gynecol, Tokyo 1130033, Japan. [Kato, Nobumasa] Showa Univ, Sch Med, Dept Neuropsychiat, Tokyo 142, Japan. RP Sasaki, T (reprint author), Univ Tokyo, Grad Sch Educ, Div Phys & Hlth Educ, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1130033, Japan. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 500 EP 507 DI 10.1016/j.rasd.2011.07.010 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400059 ER PT J AU Tomeny, TS Barry, TD Bader, SH AF Tomeny, Theodore S. Barry, Tammy D. Bader, Stephanie H. TI Are typically-developing siblings of children with an autism spectrum disorder at risk for behavioral, emotional, and social maladjustment? SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorders; Siblings; Externalizing; Internalizing; Social functioning ID COGNITIVE PHENOTYPE; PROPENSITY SCORE; ADJUSTMENT; QUESTIONNAIRE; DISABILITIES; ELEMENTARY; FAMILIES; PARENTS; STRESS; SCHOOL AB Existing literature regarding the adjustment of siblings of children with an autism spectrum disorder (ASD) remains inconclusive, with some studies showing positive adjustment, others showing negative adjustment, and others showing no difference when compared to siblings of typically-developing children. For the current study, 42 parents of a child with an ASD and a typically-developing sibling (ASD group) and 42 parents of two typically-developing siblings (control group) provided data via online questionnaires. Both diagnostic category and autism symptom severity were tested as possible moderators, but neither produced significant interactions with either externalizing behaviors or internalizing symptoms in the target child when predicting externalizing behaviors, internalizing symptoms, or social problems in the sibling. However, across the overall sample (ASD and control groups), maladjustment - particularly internalizing symptoms - in the target children significantly related to maladjustment in their siblings. Thus, these findings suggest that having a sibling with an ASD is neither a risk nor protective factor for maladjustment among typically-developing siblings above and beyond the relation between maladjustment among siblings in general. Given some of the mixed findings in the literature, other possible moderators that may put siblings of a child with an ASD at specific risk should be considered in future research. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Tomeny, Theodore S.; Barry, Tammy D.; Bader, Stephanie H.] Univ So Mississippi, Dept Psychol, Hattiesburg, MS 39406 USA. RP Barry, TD (reprint author), Univ So Mississippi, Dept Psychol, 118 Coll Dr 5025, Hattiesburg, MS 39406 USA. EM tammy.barry@usm.edu CR Abidin RR, 1995, PARENTING STRESS IND Achenbach TM, 2001, MANUAL ASEBA SCH AGE Baham M. E., 2009, THESIS ARIZONA STATE Baron R. M., 1986, J PERS SOC PSYCHOL, V51, P1773 BaronCohen S, 1997, J COGNITIVE NEUROSCI, V9, P548, DOI 10.1162/jocn.1997.9.4.548 Barry T. 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Oram TI Oral language impairments in developmental disorders characterized by language strengths: A comparison of Asperger syndrome and nonverbal learning disabilities SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Asperger syndrome; Nonverbal learning disabilities; Structural language; Semantics ID HIGH-FUNCTIONING AUTISM; SHORT-TERM-MEMORY; SPECTRUM DISORDERS; RIGHT-HEMISPHERE; ATTENTION DISORDERS; PRAGMATIC LANGUAGE; WORKING-MEMORY; CHILDREN; ADULTS; DEFICITS AB Asperger syndrome (AS) and nonverbal learning disabilities (NLD) are developmental disorders in which linguistic ability is reported to be stronger than in disorders from which they must be distinguished for diagnosis. Children and adults with AS and NLD share pragmatic weaknesses, atypical social behaviours, and some cognitive features. To date, potential similarities between these disorders in oral language have not been directly examined in the literature. A review of the available research suggests that adequate structural language is another area of similarity for AS and NLD. However, systematic investigations of phonology, morphology, or syntax were not found: thus, the evidence for largely intact structural language in these disorders is indirect. The review also pointed to a common semantic profile across both disorders, characterized by strong vocabulary breadth in the face of limited depth and organization. These higher-order problems with semantics are proposed to be consistent with theoretical accounts of poor integrative abilities in AS and NLD, and to contribute to the well-documented pragmatic difficulties in these disorders. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Stothers, M. E.] Univ Western Ontario, Elborn Coll, Fac Hlth & Rehabil Sci, London, ON N6G 1H1, Canada. [Cardy, J. Oram] Univ Western Ontario, Sch Commun Sci & Disorders, London, ON N6G 1H1, Canada. RP Stothers, ME (reprint author), Univ Western Ontario, Elborn Coll, Fac Hlth & Rehabil Sci, London, ON N6G 1H1, Canada. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 519 EP 534 DI 10.1016/j.rasd.2011.07.013 PG 16 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400061 ER PT J AU Mazurek, MO Kanne, SM Miles, JH AF Mazurek, Micah O. Kanne, Stephen M. Miles, Judith H. TI Predicting improvement in social-communication symptoms of autism spectrum disorders using retrospective treatment data SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Autism spectrum disorder; Symptoms; Treatment; Outcomes ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC INTERVIEW; FOLLOW-UP; EARLY-CHILDHOOD; YOUNG-CHILDREN; AGE; ADULTS; ADOLESCENTS; STABILITY; SCHEDULE AB Data from 1433 children and adolescents with autism spectrum disorders (ASD) participating in the Simons Simplex Collection were examined to (1) investigate change in social-communication symptoms, and (2) examine predictors of improvement, particularly community-based treatments. Measures included the Autism Diagnostic Interview-Revised (ADI-R), IQ demographics, and parent-reported treatment history (occupational, speech, and behavioral therapy). Baseline (age 4-5) and current social-communication symptom severity scores were calculated using 15 ADI-R items. The majority (95.4%) demonstrated improvement (between age 4-5 and current), 2.2% had no change, and 2.4% worsened. Controlling for age and initial severity, those who had received therapy had the best outcomes, greater therapy intensity predicted improvement, and the response to therapy was greatest among those with higher nonverbal IQ. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Mazurek, Micah O.; Kanne, Stephen M.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA. [Mazurek, Micah O.; Kanne, Stephen M.; Miles, Judith H.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorder, Columbia, MO 65211 USA. [Miles, Judith H.] Univ Missouri, Dept Child Hlth, Columbia, MO 65211 USA. RP Mazurek, MO (reprint author), Univ Missouri, Dept Hlth Psychol, 205 Portland St, Columbia, MO 65211 USA. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 535 EP 545 DI 10.1016/j.rasd.2011.07.014 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400062 ER PT J AU Petalas, MA Hastings, RP Nash, S Hall, LM Joannidi, H Dowey, A AF Petalas, Michael A. Hastings, Richard P. Nash, Susie Hall, Louise M. Joannidi, Helen Dowey, Alan TI Psychological adjustment and sibling relationships in siblings of children with Autism Spectrum Disorders: Environmental stressors and the Broad Autism Phenotype SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Psychological adjustment; Autism; Behaviour problems; Broad Autism Phenotype; Sibling relationships; Parents ID EXPRESSED EMOTION; DIFFICULTIES QUESTIONNAIRE; BEHAVIORAL-ADJUSTMENT; RELATIONSHIP QUALITY; DEPRESSION SCALE; MIDDLE CHILDHOOD; HOSPITAL ANXIETY; ADOLESCENCE; QUOTIENT; VERSION AB Research with siblings of children with Autism Spectrum Disorders (ASD) suggests that they may be at increased risk for behavioural and emotional problems and relatively poor sibling relationships. This study investigated a diathesis-stress model, whereby the presence of Broad Autism Phenotype features in the typically developing siblings might interact with family-environmental risk variables to predict sibling functioning (5-17 years of age) of children with an Autism Spectrum Disorder (ASD), their child with an ASD, and their own psychological well-being. Sibling adjustment was associated with the extent of behaviour problems in the child with an ASD and with the extent of the sibling's Broad Autism Phenotype (BAP) features. Sibling relationships were more negative when the child with an ASD had more behaviour problems and when there was evidence of critical expressed emotion in the family environment. Siblings with more BAP features, who had brothers/sisters with an ASD and a greater number of behaviour problems, had more behaviour problems themselves. Siblings with more BAP features who had parents with mental health problems reported more sibling relationship conflict. (C) 2011 Published by Elsevier Ltd. C1 [Petalas, Michael A.; Hastings, Richard P.; Nash, Susie; Hall, Louise M.; Joannidi, Helen; Dowey, Alan] Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales. [Hall, Louise M.; Joannidi, Helen; Dowey, Alan] Betsi Cadwaladr Univ Hlth Board, Wrexham Child Hlth Ctr, Bangor, Gwynedd, Wales. RP Petalas, MA (reprint author), Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales. 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Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 546 EP 555 DI 10.1016/j.rasd.2011.07.015 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400063 ER PT J AU Thorson, RT Matson, JL AF Thorson, Ryan T. Matson, Johnny L. TI Cutoff scores for the Autism Spectrum Disorder - Comorbid for Children (ASD-CC) SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism Spectrum Disorders; Comorbid psychopathology; Children; Diagnosis ID BEHAVIOR PROBLEMS; ADULTS; PSYCHOPATHOLOGY; VALIDITY; EPILEPSY; RATES; PDD AB Once considered rare, Autism Spectrum Disorders (ASD) are increasingly becoming viewed as common disorders. Additionally, recent studies suggest that comorbid psychopathology within ASD is more common than previously thought. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 556 EP 559 DI 10.1016/j.rasd.2011.07.016 PG 4 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400064 ER PT J AU Lam, YG Yeung, SSS AF Lam, Yan Grace Yeung, Siu-sze Susanna TI Cognitive deficits and symbolic play in preschoolers with autism SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Symbolic play; Theory of mind; Central coherence; Executive functions; Preschoolers with autism ID PRETEND PLAY; CHILDREN; CHILDHOOD; SKILLS AB This study investigated symbolic play in 12 children with autism and 12 children with typical development and compared theories that consider either theory of mind, executive function or central coherence to be causally involved in the development of symbolic play in autism. children with autism demonstrated significantly less symbolic play than their typically developing peers and had significant deficits in theory of mind and central coherence measures but not executive function measures. 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Standard progressive matrices Rutherford MD, 2007, J AUTISM DEV DISORD, V37, P1024, DOI 10.1007/s10803-006-0240-9 Rutherford MD, 2003, J AUTISM DEV DISORD, V33, P289, DOI 10.1023/A:1024406601334 SIGMAN M, 1984, DEV PSYCHOL, V20, P293, DOI 10.1037/0012-1649.20.2.293 STAHMER AC, 1995, J AUTISM DEV DISORD, V25, P123, DOI 10.1007/BF02178500 UNGERER JA, 1981, J AM ACAD CHILD PSY, V20, P318, DOI 10.1016/S0002-7138(09)60992-4 NR 25 TC 7 Z9 7 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD JAN-MAR PY 2012 VL 6 IS 1 BP 560 EP 564 DI 10.1016/j.rasd.2011.07.017 PG 5 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400065 ER PT J AU Irvin, DW Mcbee, M Boyd, BA Hume, K Odom, SL AF Irvin, Dwight W. McBee, Matthew Boyd, Brian A. Hume, Kara Odom, Samuel L. TI Child and family factors associated with the use of services for preschoolers with autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Service-use; Early intervention; Preschoolers ID YOUNG-CHILDREN; INTERVENTION; ACCESS; MODEL AB This study examines child and family characteristics thought to affect the dosage and type of common in-school and private services (i.e., speech language therapy (SLT), occupational therapy (OT) and applied behavior analysis (ABA)) received by children with ASD. Participants included 137 families and their preschool-aged children with ASD from four states: Colorado, Florida, Minnesota, and North Carolina. Our results indicated child and family characteristics did impact the type and dosage of services used. In the school setting, Hispanic children received a smaller dose of SLT and OT than White children. Children with greater cognitive impairments received more SLT and those with more severe symptoms of autism received a larger dosage of OT. In the private setting, higher levels of caregiver stress were related to increase usage of OT. Caregivers with a higher socioeconomic status were more likely to enroll their children in OT and ABA. Implications for practice and policy are discussed, including the need to better understand and remediate differences in service provision across socioeconomic and minority status. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Irvin, Dwight W.; McBee, Matthew; Hume, Kara; Odom, Samuel L.] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC 27599 USA. [Boyd, Brian A.] Univ N Carolina, Div Occupat Sci, Chapel Hill, NC 27599 USA. RP Irvin, DW (reprint author), Univ N Carolina, Frank Porter Graham Child Dev Inst, CB 8180, Chapel Hill, NC 27599 USA. 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PD JAN-MAR PY 2012 VL 6 IS 1 BP 565 EP 572 DI 10.1016/j.rasd.2011.07.018 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA 858TU UT WOS:000297826400066 ER PT J AU Briegel, W AF Briegel, Wolfgang TI Self-perception of children and adolescents with Mobius sequence SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Mobius sequence; Self-perception; Children and adolescents ID BEHAVIOR PROBLEMS; MOEBIUS SEQUENCE; PARENTAL STRESS; QUESTIONNAIRE; AGREEMENT; SDQ AB Mobius sequence is a rare congenital disorder usually defined as a combination of facial weakness with impairment of ocular abduction. Some studies suggest that psychosocial and psychiatric problems might be increased among affected persons. So far, there have been no studies on the self-perception of children and adolescents with the sequence. Seventeen participants with Mobius sequence (9 male, 8 female) aged 9-15 (mean: 11.59) years were studied. None of the probands was mentally retarded or had a diagnosis of autism spectrum disorder. Participants filled out well standardized German questionnaires on depression (Depressionsinventar fur Kinder und Jugendliche [DIKJ]), anxiety (Angstfragebogen fur Schuler [AFS]) and personality aspects (Personlichkeitsfragebogen fur Kinder von 9-14 Jahren [PFK 9-14]). Additionally, their primary caregivers were asked to complete a special questionnaire to compile the probands' personal, somatic and psychosocial history as well as the German version of the Strengths and Difficulties Questionnaire, Parent Form [SDQ-Deu]. According to the participants' self-perception only one girl scored clinical (t-score >= 63) for manifest anxiety [AFS] and depression [DIKJ] (5.9% vs. 10% in the general population). Moreover, the whole sample reported significantly lower test anxiety (p = 0.000) and manifest anxiety (p = 0.005) [AFS] whereas general anxiety as a personality aspect [PFK 9-14] did not differ from the normative sample. Compared to normative data, subjects expressed significantly less depression (p = 0.023) and impulsivity (p = 0.042). One out of 17 subjects was rated abnormal for total problems on the SDQ-Deu (5.9% vs. 10% of the normative sample), five participants scored abnormal for social problems (29.4%) and three for emotional problems (17.6%). Social problems correlated significantly with the probands' age (rho = 0.707; p = 0.002). As Mobius patients have severe difficulties with facial expression of feelings, and others might therefore falsely recognize them as serious or even depressed, the subjects' self-perception is crucial for assessment and diagnosis, especially if it differs considerably from that of the primary caregivers. (C) 2011 Elsevier Ltd. All rights reserved. C1 Leopoldina Krankenhaus, Klin Kinder & Jugendpsychiat & Psychotherapie, D-97422 Schweinfurt, Germany. RP Briegel, W (reprint author), Leopoldina Krankenhaus, Klin Kinder & Jugendpsychiat & Psychotherapie, Gustav Adolf Str 4, D-97422 Schweinfurt, Germany. EM wbriegel@leopoldina.de CR Achenbach T, 2000, MANUAL ASEBA PRESCHO Arbeitsgruppe Deutsche Child Behavior Checklist, 2002, ELTERNFRAGEBOGEN KLE Bogart KR, 2010, CLEFT PALATE-CRAN J, V47, P134, DOI 10.1597/08-257.1 Briegel W, 2007, GENET COUNSEL, V18, P267 Briegel W, 2006, CLIN GENET, V70, P91, DOI 10.1111/j.1399-0004.2006.00649.x Briegel W, 2009, CHILD CARE HLTH DEV, V35, P650, DOI 10.1111/j.1365-2214.2009.00943.x Briegel W, 2010, J PAEDIATR CHILD H, V46, P144, DOI 10.1111/j.1440-1754.2009.01652.x Briegel W, 2010, RES DEV DISABIL, V31, P1462, DOI 10.1016/j.ridd.2010.06.012 Briegel W, 2007, CLIN GENET, V71, P376, DOI 10.1111/j.1399-004.2007.00787.x Briegel W, 2009, EUR CHILD ADOLES PSY, V18, P515, DOI 10.1007/s00787-009-0003-1 Dopfner M., 1998, ELTERNFRAGEBOGEN VER Klasen H, 2003, PRAX KINDERPSYCHOL K, V52, P491 KOVACS M, 1989, AM PSYCHOL, V44, P209, DOI 10.1037/0003-066X.44.2.209 Kuklík M, 2000, Acta Chir Plast, V42, P95 KUMAR D, 1990, J MED GENET, V27, P122, DOI 10.1136/jmg.27.2.122 Seiffge-Krenke I, 1998, J CHILD PSYCHOL PSYC, V39, P687, DOI 10.1017/S0021963098002492 Seitz W., 2004, PFK 9 14 PERSONLICHK Sjogreen L, 2001, INT J PEDIATR OTORHI, V60, P197, DOI 10.1016/S0165-5876(01)00532-8 Stiensmeier-Pelster J, 2000, DEPRESSIONS INVENTAR Tewes U., 2000, HAMBURG WECHSLER INT van der Meer M, 2008, EUR CHILD ADOLES PSY, V17, P491, DOI 10.1007/s00787-008-0691-y Verzijl HTFM, 2003, NEUROLOGY, V61, P327 Wieczerkowski W., 1998, HANDANWEISUNG DURCHF Woerner W., 2004, EUROPEAN CHILD ADO S, V13, pI111 NR 24 TC 1 Z9 1 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0891-4222 J9 RES DEV DISABIL JI Res. Dev. Disabil. PD JAN-FEB PY 2012 VL 33 IS 1 BP 54 EP 59 DI 10.1016/j.ridd.2011.08.013 PG 6 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 856RQ UT WOS:000297661500007 PM 22093648 ER PT J AU Kjellmer, L Hedvall, A Fernell, E Gillberg, C Norrelgen, F AF Kjellmer, Liselotte Hedvall, Asa Fernell, Elisabeth Gillberg, Christopher Norrelgen, Fritjof TI Language and communication skills in preschool children with autism spectrum disorders: Contribution of cognition, severity of autism symptoms, and adaptive functioning to the variability SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism spectrum disorders; Language; Communication; Development; Cognition; Autism symptom severity; Adaptive functioning; Communicative Development Inventories ID DEVELOPMENT INVENTORY; ASPERGER-SYNDROME; BEHAVIOR; ACQUISITION; IMPAIRMENT; PREDICTORS AB This study examined the contribution of cognitive function, severity of autism, and adaptive functioning to the variability in language and communication skills in 129 preschool children (aged 24-63 months) with autism spectrum disorder (ASD). Participants were selected from a representative research cohort of 208 preschool children on the basis of caregiver completion of the MacArthur-Bates Communicative Development Inventories (CDI). The children were classified into three cognitive groups: (a) Normal intelligence; (b) Developmental delay; and (c) Intellectual disability. Autism symptom severity was measured by the Autistic Behavior Checklist (ABC), and adaptive functioning by the Daily Living Skills (DLS) and Socialization (Sac) subscales from the Vineland Adaptive Behavior Scales. For each of five CDI variables (Phrases understood, Words understood, Words produced, Gestures and actions, and Language use), the contribution of cognition, severity of autism symptoms, and adaptive functioning to the variability was examined. Cognition and age explained about half or more of the variance in the four verbal language CDI variables, but only about one fourth of the variance in the non-verbal communication variable Gestures and actions. Severity of autism symptoms and the two adaptive measures (DLS and Sac) each only accounted for a few percent more of the variance in the four CDI language variables; however, for Gestures and actions, an additional 11-21% of the variance was accounted for. In conclusion, for children with ASD, receptive and expressive language is mainly related to cognitive level, whereas non-verbal communication skills seem to also be related to severity of autism symptoms and adaptive functioning. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Kjellmer, Liselotte] Karolinska Inst, Div Speech & Language Pathol, CLINTEC, Stockholm, Sweden. [Kjellmer, Liselotte; Hedvall, Asa; Fernell, Elisabeth; Gillberg, Christopher; Norrelgen, Fritjof] Sahlgrens Acad, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden. [Kjellmer, Liselotte; Norrelgen, Fritjof] Karolinska Univ Hosp, Dept Speech & Language Pathol, Stockholm, Sweden. [Hedvall, Asa] Karolinska Univ Hosp, Dept Psychol, Stockholm, Sweden. RP Kjellmer, L (reprint author), Karolinska Inst, Div Speech & Language Pathol, CLINTEC, Stockholm, Sweden. 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Dev. Disabil. PD JAN-FEB PY 2012 VL 33 IS 1 BP 172 EP 180 DI 10.1016/j.ridd.2011.09.003 PG 9 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 856RQ UT WOS:000297661500021 PM 22093662 ER PT J AU Hattier, MA Matson, JL Belva, B Kozlowski, A AF Hattier, Megan A. Matson, Johnny L. Belva, Brian Kozlowski, Ali TI The effects of diagnostic group and gender on challenging behaviors in infants and toddlers with cerebral palsy, Down syndrome or seizures SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Cerebral palsy; Problem behavior; Toddlers; Gender; BISCUIT; Seizures; Down syndrome ID AUTISM SPECTRUM DISORDERS; SELF-INJURIOUS-BEHAVIOR; FEEDING PROBLEMS STEP; MENTAL ILL-HEALTH; INTELLECTUAL DISABILITY; SOCIAL-SKILLS; MALADAPTIVE BEHAVIOR; AGGRESSIVE-BEHAVIOR; SCREENING TOOL; CHILDREN AB Challenging behaviors are frequently studied in individuals with various developmental disabilities, although specific conditions are rarely compared to one another. Such data would be informative to clinicians who assess and develop treatment plans for children with these disabilities. For that reason, the current study's aim was to analyze problem behavior deficits in infants and toddlers diagnosed with cerebral palsy (CP), Down syndrome (DS), and a history of seizures/seizure disorder. Seventy six children participated in this study and were administered the Baby and Infant Screen for Children with aUtIsm Traits-Part 2 (BISCUIT-Part 2). Inspection of the Tantrum/Conduct Behavior subscale of this measure revealed that children with a history of seizures/seizure disorder exhibited significantly higher scores, indicating greater impairment, than those with CP or DS. Children with DS and those diagnosed with CP did not significantly differ from one another. Additionally, there was no significant main effect by gender. The CP and DS groups also had fewer endorsements on all 18 items of the subscale as compared to the seizures group. Implications of these results are discussed. (C) 2011 Elsevier Ltd. All rights reserved. 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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Dev. Disabil. PD JAN-FEB PY 2012 VL 33 IS 1 BP 258 EP 264 DI 10.1016/j.ridd.2011.09.014 PG 7 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 856RQ UT WOS:000297661500031 PM 22093672 ER PT J AU Mashal, N Kasirer, A AF Mashal, Nira Kasirer, Anat TI Principal component analysis study of visual and verbal metaphoric comprehension in children with autism and learning disabilities SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism; Learning disabilities; Visual metaphors; Principal component analysis; Semantic knowledge ID FLUENCY; PERFORMANCE; COMPETENCE; LANGUAGE; MIND AB This research extends previous studies regarding the metaphoric competence of autistic and learning disable children on different measures of visual and verbal non-literal language comprehension, as well as cognitive abilities that include semantic knowledge, executive functions, similarities, and reading fluency. Thirty seven children with autism (ASD), 20 children with learning disabilities (LD), and 21 typically developed (TD) children participated in the study. Principal components analysis was used to examine the interrelationship among the various tests in each group. Results showed different patterns in the data according to group. In particular, the results revealed that there is no dichotomy between visual and verbal metaphors in TD children but rather metaphor are classified according to their familiarity level. In the LD group visual metaphors were classified independently of the verbal metaphors. Verbal metaphoric understanding in the ASD group resembled the LD group. In addition, our results revealed the relative weakness of the ASD and LD children in suppressing irrelevant information. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Mashal, Nira; Kasirer, Anat] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel. 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TI Neurodevelopmental changes of reading the mind in the eyes SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE LA English DT Article DE fMRI; mind-reading; mentalizing; adolescence; brain development ID MEDIAL PREFRONTAL CORTEX; HIGH-FUNCTIONING AUTISM; SCHOOL-AGED CHILDREN; SOCIAL COGNITION; ASPERGER-SYNDROME; MENTAL STATES; GAZE SHIFTS; BRAIN; ADOLESCENCE; PERCEPTION AB The eyes provide important information for decoding the mental states of others. In this fMRI study we examined how reading the mind in the eyes develops across adolescence and we tested the developmental trajectories of brain regions involved in this basic perceptual mind-reading ability. Participants from three age groups (early adolescents, mid adolescents and young adults) participated in the study and performed an adapted version of the 'Reading the Mind in the Eyes task', in which photographs of the eye region of faces were presented. 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Cogn. Affect. Neurosci. PD JAN PY 2012 VL 7 IS 1 SI SI BP 44 EP 52 DI 10.1093/scan/nsr020 PG 9 WC Neurosciences; Psychology; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 873OA UT WOS:000298891400005 PM 21515640 ER PT J AU Sebastian, CL Fontaine, NMG Bird, G Blakemore, SJ De Brito, SA McCrory, EJP Viding, E AF Sebastian, Catherine L. Fontaine, Nathalie M. G. Bird, Geoffrey Blakemore, Sarah-Jayne De Brito, Stephane A. McCrory, Eamon J. P. Viding, Essi TI Neural processing associated with cognitive and affective Theory of Mind in adolescents and adults SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE LA English DT Article DE Theory of Mind; empathy; adolescence; development; fMRI ID SOCIAL COGNITION; PREFRONTAL CORTEX; EMPATHY; BRAIN; CHILDREN; DAMAGE; ATTRIBUTION; CHILDHOOD; AUTISM; HUMANS AB Theory of Mind (ToM) is the ability to attribute thoughts, intentions and beliefs to others. This involves component processes, including cognitive perspective taking (cognitive ToM) and understanding emotions (affective ToM). This study assessed the distinction and overlap of neural processes involved in these respective components, and also investigated their development between adolescence and adulthood. While data suggest that ToM develops between adolescence and adulthood, these populations have not been compared on cognitive and affective ToM domains. Using fMRI with 15 adolescent (aged 11-16 years) and 15 adult (aged 24-40 years) males, we assessed neural responses during cartoon vignettes requiring cognitive ToM, affective ToM or physical causality comprehension (control). An additional aim was to explore relationships between fMRI data and self-reported empathy. Both cognitive and affective ToM conditions were associated with neural responses in the classic ToM network across both groups, although only affective ToM recruited medial/ventromedial PFC (mPFC/vmPFC). Adolescents additionally activated vmPFC more than did adults during affective ToM. The specificity of the mPFC/vmPFC response during affective ToM supports evidence from lesion studies suggesting that vmPFC may integrate affective information during ToM. Furthermore, the differential neural response in vmPFC between adult and adolescent groups indicates developmental changes in affective ToM processing. C1 [Sebastian, Catherine L.; De Brito, Stephane A.; McCrory, Eamon J. P.; Viding, Essi] UCL, Div Psychol & Language Sci, London WC1H 0AP, England. [Sebastian, Catherine L.; Bird, Geoffrey; Blakemore, Sarah-Jayne; Viding, Essi] UCL, Div Psychol & Language Sci, Inst Cognit Neurosci, London WC1N 3AR, England. [Fontaine, Nathalie M. G.] Indiana Univ, Dept Criminal Justice, Bloomington, IN 47405 USA. [Bird, Geoffrey] Univ London Birkbeck Coll, Dept Psychol Sci, London WC1E 7HX, England. RP Sebastian, CL (reprint author), UCL, Div Psychol & Language Sci, 26 Bedford Way, London WC1H 0AP, England. EM c.sebastian@ucl.ac.uk RI De Brito, Stephane/F-9737-2013 FU British Academy [53229]; UCL Department of Clinical, Educational and Health Psychology; Social Sciences and Humanities Research Council of Canada; Birkbeck-UCL Centre for Neuroimaging FX We are grateful to Dr Birgit Vollm for sharing her original stimuli, to Dr Simone Shamay-Tsoory for permitting us to present her original model in Figure 1, to Dr Darrick Jolliffe for his permission to use the Basic Empathy Scale, to the Birkbeck-UCL Centre for Neuroimaging for its support and to Andrea Greenwood (artist), Dr Alice Jones, John Rogers, Rosie Oakley and Isabel White for assistance at various stages of the project. 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Cogn. Affect. Neurosci. PD JAN PY 2012 VL 7 IS 1 SI SI BP 53 EP 63 DI 10.1093/scan/nsr023 PG 11 WC Neurosciences; Psychology; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 873OA UT WOS:000298891400006 PM 21467048 ER PT J AU Semprun-Hernandez, N Bohorquez-Visier, AP Henriquez, AB Bohorguez, RC Medina, FH Maury-Sintjago, E Ocando, NM AF Semprun-Hernandez, Neomar Paula Bohorquez-Visier, Ana Bravo Henriquez, Alfonso Colmenares Bohorguez, Rogelio Hernandez Medina, Fernando Maury-Sintjago, Eduard Ocando, Nola Montiel TI Copper, zinc, calcium and magnesium profiles in subjects with autistic disorder according to their functioning level SO TRACE ELEMENTS AND ELECTROLYTES LA English DT Article DE calcium; magnesium; zinc; copper; autistic disorder ID LIPID-PEROXIDATION; CHILDREN; HAIR; MINERALS AB Either an excess or a deficiency of minerals have been involved in the etiology of autistic disorder. The objective of this study was to determine serum concentration and dietary intake of these elements in 30 subjects with autistic disorder classified according to their functioning level and 20 control subjects. We detected statistically significant differences (p < 0.05) related to high levels of Cu and low levels of Mg in subjects with autistic disorder compared to control group. Cooper serum level in subjects with high-functioning autism was higher than the control group and subgroups of subjects with this disorder. Concluding, results point to a possible imbalance in cooper homeostasis in this disorder as well as a physiological regulation of cooper in subjects with high-functioning autism, which could be influencing the expression of low symptoms in this subgroup of subject. C1 [Semprun-Hernandez, Neomar; Paula Bohorquez-Visier, Ana; Colmenares Bohorguez, Rogelio; Hernandez Medina, Fernando; Ocando, Nola Montiel] Univ Zulia, Dept Biol, Lab Metodos Inmunol, Fac Expt Ciencias, Maracaibo 4011, Venezuela. [Bravo Henriquez, Alfonso; Maury-Sintjago, Eduard] Univ Zulia, Lab Invest & Desarrollo Nutr, Escuela Nutr & Dietet, Fac Med, Maracaibo 4011, Venezuela. RP Semprun-Hernandez, N (reprint author), Univ Zulia, Dept Biol, Lab Metodos Inmunol, Fac Expt Ciencias, Maracaibo 4011, Venezuela. 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Electrolytes PY 2012 VL 29 IS 1 BP 1 EP 6 DI 10.5414/TEX01188 PG 6 WC Biochemistry & Molecular Biology; Endocrinology & Metabolism SC Biochemistry & Molecular Biology; Endocrinology & Metabolism GA 875JD UT WOS:000299025300001 ER PT J AU Lintas, C Sacco, R Persico, AM AF Lintas, Carla Sacco, Roberto Persico, Antonio M. TI Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome SO NEUROBIOLOGY OF DISEASE LA English DT Review DE Asperger syndrome; Autism; Autism spectrum disorder; Autistic disorder; Down syndrome; Expression; Immune response; Mental retardation; Microarray; Neurodevelopment; Neuroinflammation; Pervasive developmental disorders; Rett syndrome ID PERVASIVE DEVELOPMENTAL DISORDERS; LYMPHOBLASTOID CELL-LINES; AMNIOTIC-FLUID CELL; GENE-EXPRESSION; SYNDROME BRAIN; MITOCHONDRIAL DYSFUNCTION; OXIDATIVE STRESS; AUTOIMMUNE-DISEASES; CHILDHOOD AUTISM; HUMAN FETUSES AB Though different in their aetiology, autism spectrum disorder (ASD), Rett syndrome (RTT) and Down syndrome (DS) are three neurodevelopmental disorders sharing significant clinical and neuropathological overlaps. Genome-wide expression studies are reviewed and available datasets from post-mortem brains reanalyzed to identify genes and gene pathways dysregulated in all three disorders. Our results surprisingly converge upon immune, and not neurodevelopmental genes, as the most consistently shared abnormality in genome-wide expression patterns. A dysregulated immune response, accompanied by enhanced oxidative stress and abnormal mitochondrial metabolism seemingly represents the common molecular underpinning of these neurodevelopmental disorders. This conclusion may be important for the definition of pharmacological therapies able to ameliorate clinical symptoms across these disorders. (C) 2010 Elsevier Inc. All rights reserved. C1 [Persico, Antonio M.] Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, I-00128 Rome, Italy. IRCCS Fdn Santa Lucia, Dept Expt Neurosci, Rome, Italy. RP Persico, AM (reprint author), Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, Via Alvaro del Portillo 21, I-00128 Rome, Italy. EM a.persico@unicampus.it FU Italian Ministry for University, Scientific Research and Technology [2006058195]; Italian Ministry of Health [RFPS-2007-5-640174]; Autism Speaks Foundation (Princeton, NJ); Autism Research Institute (San Diego, CA); Fondazione Gaetano e Mafalda Luce (Milan, Italy); Autism Aids Onlus (Naples, Italy) FX This work is supported by the Italian Ministry for University, Scientific Research and Technology (Programmi di Ricerca di Interesse Nazionale, prot. n. 2006058195), the Italian Ministry of Health (RFPS-2007-5-640174), the Autism Speaks Foundation (Princeton, NJ), the Autism Research Institute (San Diego, CA), the Fondazione Gaetano e Mafalda Luce (Milan, Italy), and Autism Aids Onlus (Naples, Italy). 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Thus, advancing our understanding of autism genetics requires the integration of genetic information with information on genome function, as provided by transcriptomic data. We review recent autism transcriptome studies, in the context of current knowledge of autism genetics, and discuss the utility of gene expression data in evaluating the functional relevance of genetic variants and identifying common molecular pathways dysregulated in autism. (C) 2011 Elsevier Inc. All rights reserved. C1 Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90095 USA. RP Voineagu, I (reprint author), Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90095 USA. EM voineagu@ucla.edu FU [NIMH5R01MH081754-03] FX The author is grateful to Drs. Rita Cantor, Carmen Panaitof and Olga Penagarikano for critically reading the manuscript and useful discussions, and Dr. Daniel Geschwind for helpful comments on the manuscript and funding support for this work (NIMH5R01MH081754-03). 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Dis. PD JAN PY 2012 VL 45 IS 1 BP 69 EP 75 DI 10.1016/j.nbd.2011.07.017 PG 7 WC Neurosciences SC Neurosciences & Neurology GA 859NQ UT WOS:000297883500009 PM 21839838 ER PT J AU Chevere-Torres, I Maki, JM Santini, E Klann, E AF Chevere-Torres, Itzamarie Maki, Jordan M. Santini, Emanuela Klann, Eric TI Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin SO NEUROBIOLOGY OF DISEASE LA English DT Article DE Tuberous sclerosis complex; Autism; TSC2; GAP domain; mTORC1; Social interaction; Motor skills; Reversal learning; Spatial learning ID AUTISM SPECTRUM DISORDERS; BEHAVIORAL TASKS RELEVANT; MOUSE MODEL; CEREBRAL-LESIONS; SPATIAL MEMORY; MTOR PATHWAY; TSC2 GENE; DEFICITS; BRAIN; HAMARTIN AB Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of hamartomas in multiple organs. Neurological manifestation includes cortical dysplasia, epilepsy, and cognitive deficits such as mental impairment and autism. We measured the impact of TSC2-GAP mutations on cognitive processes and behavior in, Delta RG transgenic mice that express a dominant/negative TSC2 that binds to TSC1, but has mutations affecting its GAP domain and its rabaptin-5 binding motif, resulting in inactivation of the TSC1/2 complex. We performed a behavioral characterization of the Delta RG transgenic mice and found that they display mild, but significant impairments in social behavior and rotarod motor learning. These findings suggest that the Delta RG transgenic mice recapitulate some behavioral abnormalities observed in human TSC patients. (C) 2011 Elsevier Inc. All rights reserved. C1 [Chevere-Torres, Itzamarie; Maki, Jordan M.; Santini, Emanuela; Klann, Eric] NYU, Ctr Neural Sci, New York, NY 10003 USA. RP Klann, E (reprint author), NYU, Ctr Neural Sci, 4 Washington Pl,Room 809, New York, NY 10003 USA. EM eklann@cns.nyu.edu FU National Institutes of Health [NS034007, NS047384, F32 MH085489] FX We would like to thank Dr. Jack Arbiser for providing us with mice to initiate the Delta RG colony at our facility. Financial support was provided by National Institutes of Health grants NS034007 and NS047384 (E.K.), and F32 MH085489 (I.C.T.). 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These malformations typically exhibit neuronal as well as glial cell abnormalities and likely underlie much of the neurological morbidity seen in TSC. Tuber pathogenesis remains poorly understood though upregulation of the mTORC1 signaling pathway in TSC has been consistently demonstrated. Here we address abnormal brain development in TSC by inactivating the mouse Tsc1 gene in embryonic neural progenitor cells. This strategy permits evaluation of the role of the Tsc1 gene in both neuronal as well as glial cell lineages. Tsc1(Emx1-Cre) conditional knockout (CKO) animals die by 25 days of life. Their brains have increased size and contain prominent large cells within the cerebral cortex that have greatly increased mTORC1 signaling and decreased mTORC2 signaling. Severe defects of cortical lamination, enlarged dysmorphic astrocytes and decreased myelination were also found. Tsc1(Emx1-Cre) CKO mice were then treated with rapamycin to see if the premature death and brain abnormalities can be rescued. Postnatal rapamycin treatment completely prevented premature death and largely reversed the glia pathology but not abnormal neuronal lamination. These findings support a model that loss of function of the TSC genes in embryonic neural progenitor cells causes cortical malformations in patients with TSC. The dramatic effect of rapamycin suggests that even with extensive multi-lineage abnormalities, a postnatal therapeutic window may exist for patients with TSC. (C) 2011 Elsevier Inc. All rights reserved. C1 [Ess, Kevin C.] Vanderbilt Univ, MRBIII, Dept Neurol, Nashville, TN 37232 USA. Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37232 USA. RP Ess, KC (reprint author), Vanderbilt Univ, MRBIII, Dept Neurol, Suite 6158, Nashville, TN 37232 USA. EM kevin.ess@vanderbilt.edu FU NIH [5K08NS050484]; Vanderbilt Kennedy Center for Research on Human Development; Tuberous Sclerosis Alliance FX We thank Drs. David Gutmann and David Kwiatkowski for gift of Tsc1 foxed mice, encouragement and helpful discussions. This work was supported by NIH grant 5K08NS050484 to K.C.E. Support was also provided by the Vanderbilt Kennedy Center for Research on Human Development and the Tuberous Sclerosis Alliance. 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Dis. PD JAN PY 2012 VL 45 IS 1 BP 369 EP 380 DI 10.1016/j.nbd.2011.08.024 PG 12 WC Neurosciences SC Neurosciences & Neurology GA 859NQ UT WOS:000297883500042 PM 21907282 ER PT J AU Valencia, AV Paez, AL Sampedro, ME Avila, C Cardona, JC Mesa, C Galvis, L Carrizosa, J Camargo, M Ruiz, A Cornejo, W Bedoya, G AF Victoria Valencia, Ana Lucia Paez, Ana Elena Sampedro, Maria Avila, Clara Cesar Cardona, Julio Mesa, Catalina Galvis, Lina Carrizosa, Jaime Camargo, Mauricio Ruiz, Andres Cornejo, William Bedoya, Gabriel TI Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology SO BIOMEDICA LA Spanish DT Article DE Autistic disorder/genetics; genetic association studies; serotonin; polymorphism; single nucleotide; polymorphism; genetic; epistasis; genetic AB Introduction. Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. Objectives. The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. Materials and methods. In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. Results. A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). Conclusion. Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders. C1 [Victoria Valencia, Ana; Lucia Paez, Ana; Camargo, Mauricio; Bedoya, Gabriel] Univ Antioquia, Medellin, Colombia. [Victoria Valencia, Ana; Cornejo, William] Univ Pontificia Bolivariana, Medellin, Colombia. [Elena Sampedro, Maria; Avila, Clara] Fdn Integrar, Medellin, Colombia. [Cesar Cardona, Julio; Mesa, Catalina; Galvis, Lina; Carrizosa, Jaime; Cornejo, William] Univ Antioquia, Escuela Med, Dept Pediat, Grp Pediaciencias, Medellin, Colombia. Univ Antioquia, Medellin, Colombia. Univ Antioquia, Genet Mol Lab, Medellin, Colombia. RP Valencia, AV (reprint author), Univ Antioquia, Sede Invest Univ, Genet Mol Lab, Calle 62 52-59,Torre 2,Lab 430, Medellin, Colombia. 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Crider, Raquel Schnoll, Roseanne Wallinga, David Deth, Richard TI A macroepigenetic approach to identify factors responsible for the autism epidemic in the United States SO CLINICAL EPIGENETICS LA English DT Review DE Autism; DNA methylation; Environmental epigenetics; Heavy metals; HFCS; PON1; SAM; Zn AB The number of children ages 6 to 21 in the United States receiving special education services under the autism disability category increased 91% between 2005 to 2010 while the number of children receiving special education services overall declined by 5%. The demand for special education services continues to rise in disability categories associated with pervasive developmental disorders. Neurodevelopment can be adversely impacted when gene expression is altered by dietary transcription factors, such as zinc insufficiency or deficiency, or by exposure to toxic substances found in our environment, such as mercury or organophosphate pesticides. Gene expression patterns differ geographically between populations and within populations. Gene variants of paraoxonase-1 are associated with autism in North America, but not in Italy, indicating regional specificity in gene-environment interactions. In the current review, we utilize a novel macroepigenetic approach to compare variations in diet and toxic substance exposure between these two geographical populations to determine the likely factors responsible for the autism epidemic in the United States. C1 [Dufault, Renee] Food Ingredient & Hlth Res Inst, Ocean View, HI USA. [Dufault, Renee] United Tribes Tech Coll, Bismarck, ND USA. [Lukiw, Walter J.] Louisiana State Univ, Louisiana State Univ Neurosci Ctr, Dept Neurosci & Ophthalmol, Hlth Sci Ctr, New Orleans, LA USA. [Crider, Raquel] Shepherd Univ, Shepherdstown, WV USA. [Schnoll, Roseanne] CUNY Brooklyn Coll, Dept Hlth & Nutr Sci, Brooklyn, NY 11210 USA. [Wallinga, David] Inst Agr & Trade Policy, Minneapolis, MN USA. [Deth, Richard] Northeastern Univ, Dept Pharmaceut Sci, Boston, MA 02115 USA. RP Dufault, R (reprint author), Food Ingredient & Hlth Res Inst, Ocean View, HI USA. EM rdufault@foodingredient.info FU National Center for Research Resources [P20RR016456]; Translational Research Initiative Grant from LSU Health Sciences Center New Orleans; Alzheimer Association Investigator Initiated Research Grant [IIRG09- 131729]; NIH NIA [AG18031, AG038834] FX The authors would like to thank Drs. Robert Lustig, Blaise LeBlanc and Steven Gilbert for the feedback each provided on this manuscript and/or the concepts therein. Funding for this research project was provided primarily by donations to the Food Ingredient and Health Research Institute. Research in the Lukiw laboratory is supported through Grant Number P20RR016456 from the National Center for Research Resources, a Translational Research Initiative Grant from LSU Health Sciences Center New Orleans, an Alzheimer Association Investigator Initiated Research Grant IIRG09- 131729, and NIH NIA Grants AG18031 and AG038834. CR Ackerman Z, 2010, BASIC CLIN PHARMACOL, V107, P663, DOI 10.1111/j.1742-7843.2010.00553.x Adams JB, 2011, NUTR METAB, V8, DOI 10.1186/1743-7075-8-34 Adams JB, 2009, J TOXICOL, DOI DOI 10.1155/2009/532640 American Psychiatric Association, 2000, DIAGN STAT MAN MENT Ayotte P, 2011, ENVIRON HEALTH PERSP, V119, P1077, DOI 10.1289/ehp.1003296 BARBONE F, 2011, 10 INT C MERC GLOB P Barr DB, 2004, ENVIRON HEALTH PERSP, V112, P186, DOI 10.1289/ehp.6503 Bouchard MF, 2011, ENVIRON HEALTH PERSP, V119, P1189, DOI 10.1289/ehp.1003185 Boyle CA, 2011, PEDIATRICS, V127, P1034, DOI 10.1542/peds.2010-2989 Caspi A, 2006, NAT REV NEUROSCI, V7, P583, DOI 10.1038/nrn1925 CDC U. 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Epigenetics PY 2012 VL 4 DI 10.1186/1868-7083-4-6 PG 12 WC Oncology SC Oncology GA V30QQ UT WOS:000208830900006 PM 22490277 ER PT J AU Tan, ML Ho, JJ Teh, KH AF Tan, May Loong Ho, Jacqueline J. Teh, Keng Hwang TI Polyunsaturated fatty acids (PUFAs) for children with specific learning disorders SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review ID PLACEBO-CONTROLLED TRIAL; RANDOMIZED DOUBLE-BLIND; DOCOSAHEXAENOIC ACID; READING DIFFICULTIES; SYSTEMATIC ANALYSIS; AUTISTIC SPECTRUM; DYSLEXIA; SUPPLEMENTATION; DISABILITIES; ADHD AB Background About 5% of schoolchildren have a specific learning disorder, defined as an unexpected failure to acquire adequate abilities in reading, writing or mathematic skills not as a result of reduced intellectual ability, inadequate teaching or social deprivation. Of these, 80% are reading disorders. Polyunsaturated fatty acids (PUFAs), in particular omega-3 and omega-6 fatty acids, which are found abundantly in the brain and retina are important for learning. Some children with specific learning disorders have been found to be deficient in these PUFAs, and it is argued that supplementation of PUFAs may help these children improve their learning abilities. Objectives To assess the effects of polyunsaturated fatty acids (PUFAs) supplementation for children with specific learning disorders, on learning outcomes. Search methods We searched the following databases in April 2012: CENTRAL (2012, Issue 4), MEDLINE (1948 to April Week 2 2012), EMBASE (1980 to 2012 Week 16), PsycINFO (1806 to April 2012), ERIC (1966 to April 2012), Science Citation Index (1970 to 20 April 2012), Social Science Citation Index (1970 to 20 April 2012), Conference Proceedings Citation Index-Science (1970 to 20 April 2012), Conference Proceedings Citation Index-Social Sciences and Humanites (1970 to 20 April 2012), Cochrane Database of Systematic Reviews (2012, Issue 4), DARE (2012, Issue 2), ZETOC (24 April 2012) and WorldCat (24 April 2012). We searched the WHO International Clinical Trials Registry Platform and ClinicalTrials.gov on 24 April 2012. We also searched the reference lists of relevant articles identified by the searches. Selection criteria Randomised or quasi-randomised controlled trials comparing polyunsaturated fatty acids (PUFAs) with placebo or no treatment in children aged below 18 years with specific learning disabilities diagnosed using DSM-IV, ICD-10 or equivalent criteria. We intended to include participants with co-existing developmental disorders such as attention deficit hyperactivity disorder (ADHD) or autism. Data collection and analysis Two authors (ML and KH) independently screened the titles and abstracts of the search results and eliminated all studies that did not meet the inclusion criteria. Authors were contacted for missing information and clarifications when needed. Main results We did not find any studies suitable for inclusion in the review. One study is awaiting classification as we were unable to get any information from the study author. Authors' conclusions There is insufficient evidence to draw any conclusion about the use of PUFAs for children with specific learning disorders. There is a need for well designed randomised studies to support or refute the use of PUFAs in this group of children. C1 [Tan, May Loong; Ho, Jacqueline J.] Penang Med Coll, Dept Paediat, Georgetown 10450, Penang, Guyana. [Teh, Keng Hwang] Hosp Sutanah Bahiyah, Dept Pediat, Alor Setar, Malaysia. RP Tan, ML (reprint author), Penang Med Coll, Dept Paediat, 4 Jalan Sepoy Lines, Georgetown 10450, Penang, Guyana. EM mltan@pmc.edu.my FU Penang Medical College, Malaysia; Sultanah Bahiyah Hospital, Alor Setar, Malaysia FX Internal sourcesPenang Medical College, Malaysia.The Sultanah Bahiyah Hospital, Alor Setar, Malaysia. 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PY 2012 VL 27 IS 1 BP 99 EP 114 DI 10.1080/08856257.2011.640489 PG 16 WC Education, Special SC Education & Educational Research GA V34RP UT WOS:000209103800007 ER PT J AU Asberg, J Zander, U Zander, E Sandberg, AD AF Asberg, Jakob Zander, Ulla Zander, Eric Sandberg, Annika Dahlgren TI Social and individual aspects of classroom learning in students with Autism Spectrum Disorder: an action research pilot study on assessment SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Article DE school; learning; autism; Asperger's syndrome; literacy; action research; special education AB The current paper reports on the outcome of an ongoing action research project at a school for higher-functioning students with Autism Spectrum Disorder (ASD) in Sweden. The overall aim of the study was to develop and evaluate a questionnaire that captures social and individual aspects of classroom learning suitable for use with students with ASD. Interview data is presented on the perceived utility of the questionnaire for understanding and planning classroom instruction for the children with ASD through the eyes of the students' teachers and their parents, as assessed during an Individual Education Plan meeting. Further, teacher ratings obtained by means of the instrument were found to differentiate a group of students with ASD (n = 10) from a group of typically developing children matched with regard to grade year, word reading ability and receptive vocabulary (n = 10). Implications and future directions are discussed, as are limitations of this pilot study. C1 [Asberg, Jakob; Sandberg, Annika Dahlgren] Univ Gothenburg, Dept Psychol, S-40020 Gothenburg, Sweden. [Zander, Ulla; Zander, Eric] Helleborusskolan, Taby, Sweden. [Zander, Eric] Karolinska Inst, Dept Womens & Childrens Hlth, Solna, Sweden. RP Asberg, J (reprint author), Univ Gothenburg, Dept Psychol, Box 14158, S-40020 Gothenburg, Sweden. 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J. Spec. Needs Educ. PY 2012 VL 27 IS 1 BP 115 EP 127 DI 10.1080/08856257.2011.640488 PG 13 WC Education, Special SC Education & Educational Research GA V34RP UT WOS:000209103800008 ER PT J AU Mavropoulou, S Avramidis, E AF Mavropoulou, Sophia Avramidis, Elias TI Befrienders to persons in the autistic spectrum in Greece: what support do they offer and what challenges they face? SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Article DE befriending; families; autism spectrum disorders AB The aim of this research was to examine the type of activities as well as the challenges faced by befrienders supporting persons with autism spectrum disorders (ASD). Twenty-nine volunteers befriending an equal number of families with children with ASD participated in this study. Content analysis was applied on visit logs (n = 465) completed by befrienders during a nine month period, supplemented by thematically analysed evidence derived from semi-structured interviews with befrienders at the end of their volunteering experience. In agreement with our expectations, findings indicate a variation in the type, number and location of activities as well as the challenges of befrienders, depending on the level of ability of persons with ASD. Befrienders in both groups were mostly involved in leisure activities, had greater social interaction with the high functioning autistic group and carried out more structured 1: 1 activities with individuas with low functioning autism. Interestingly, befrienders in both groups did not differ significantly on their reported challenges. The implications of this befriending service as a means of social support for families with persons with ASD are discussed. C1 [Mavropoulou, Sophia; Avramidis, Elias] Univ Thessaly, Dept Special Educ, Volos, Greece. RP Mavropoulou, S (reprint author), Univ Thessaly, Dept Special Educ, Volos, Greece. EM smavrop@uth.gr CR Andrews GJ, 2003, AGEING SOC, V23, P349, DOI 10.1017/S0144686X03001156 Boyd B. A., 2002, FOCUS AUTISM OTHER D, V17, P208, DOI DOI 10.1177/10883576020170040301 Bradshaw T, 1998, J ADV NURS, V27, P713, DOI 10.1046/j.1365-2648.1998.00618.x Brandon P, 2007, SOC SCI MED, V65, P667, DOI 10.1016/j.socscimed.2007.04.007 Brewster S., 2010, BRIT J LEARN DISABIL, V39, P284 Bromley J, 2004, AUTISM, V8, P409, DOI 10.1177/1362361304047224 Brown R. 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J. Spec. Needs Educ. PY 2012 VL 27 IS 3 BP 337 EP 353 DI 10.1080/08856257.2012.691230 PG 17 WC Education, Special SC Education & Educational Research GA V34RT UT WOS:000209104200005 ER PT J AU Rama, I Kontu, E AF Rama, Irene Kontu, Elina TI Searching for pedagogical adaptations by exploring teacher's tacit knowledge and interactional co-regulation in the education of pupils with autism SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Article DE autism; tacit knowledge; interaction; ethnomethodology; co-regulation AB The purpose of this article is to introduce a research design, which aims to find useful pedagogical adaptations for teaching pupils with autism. Autism is a behavioural syndrome characterised by disabilities and dysfunctions in interaction and communication, which is why it is interesting to explore educational processes particularly from an interactional perspective in a class with pupils with autism. The main focus is in exploring teacher's tacit knowledge and interactional co-regulation between the teacher and the pupils. This study is a part of a larger Finnish project, which involves the education of pupils with autism in the primary school system. In the study described, six video recordings (each about 30 min) were taken under analysis due to the uniqueness in the research context of special education: the videos are rare in that they involve only the teacher and her six pupils with autism; no helpers are present in the classroom. This study explored the phenomenon ethnomethodologically. This study indicated that it is possible to apply a general theory of interaction when exploring people with autism, although the main diagnostic criteria of autism are disabilities in social interaction and communication. It was possible to extract episodes from the behaviour of the teacher that showed her tacit knowledge becoming concrete. 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J. Spec. Needs Educ. PY 2012 VL 27 IS 4 BP 417 EP 431 DI 10.1080/08856257.2012.701064 PG 15 WC Education, Special SC Education & Educational Research GA V34RU UT WOS:000209104300001 ER PT J AU Symes, W Humphrey, N AF Symes, Wendy Humphrey, Neil TI Including pupils with autistic spectrum disorders in the classroom: the role of teaching assistants SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Article DE autism; inclusion; teaching assistants AB The aims of the current study were (i) to explore the extent to which pupils with Autistic Spectrum Disorders (ASD) were effectively included in lessons, compared with pupils with dyslexia (DYS) or no Special Educational Needs (CON) and (ii) to understand how the presence of a teaching assistant (TA) influences the inclusion/exclusion process. One hundred and twenty pupils (40 each in the ASD, DYS and CON groups) drawn from 12 mainstream secondary schools in the north-west of England were observed in a variety of lessons using structured observation schedules. Additionally, the classroom inclusion of 21 pupils with ASD was examined through qualitative observations. The analysis indicated that pupils with ASD were less effectively included in lessons than pupils in the other two groups. Specifically, they were less likely to work independently and be socially included, particularly when a TA was present. The findings are discussed in relation to the growing literature on inclusive education for pupils with ASD. C1 [Symes, Wendy; Humphrey, Neil] Univ Manchester, Sch Educ, Manchester, Lancs, England. RP Symes, W (reprint author), Univ Manchester, Sch Educ, Manchester, Lancs, England. 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J., 2008, INT J PSYCHOL PSYCHO, V8, P25 NR 50 TC 1 Z9 1 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 0885-6257 EI 1469-591X J9 EUR J SPEC NEEDS EDU JI Eur. J. Spec. Needs Educ. PY 2012 VL 27 IS 4 BP 517 EP 532 DI 10.1080/08856257.2012.726019 PG 16 WC Education, Special SC Education & Educational Research GA V34RU UT WOS:000209104300007 ER PT J AU Enz, R AF Enz, Ralf TI Structure of metabotropic glutamate receptor C-terminal domains in contact with interacting proteins SO FRONTIERS IN MOLECULAR NEUROSCIENCE LA English DT Review DE binding surface; metabotropic glutamate receptor; G-protein coupled receptor; mGluR; protein-protein interaction; signaling complex; short linear motif; structure AB Metabotropic glutamate receptors (mGluRs) regulate intracellular signal pathways that control several physiological tasks, including neuronal excitability, learning, and memory. This is achieved by the formation of synaptic signal complexes, in which mGluRs assemble with functionally related proteins such as enzymes, scaffolds, and cytoskeletal anchor proteins. Thus, mGluR associated proteins actively participate in the regulation of glutamatergic neurotransmission. Importantly, dysfunction of mGluRs and interacting proteins may lead to impaired signal transduction and finally result in neurological disorders, e.g., night blindness, addiction, epilepsy, schizophrenia, autism spectrum disorders and Parkinson's disease. In contrast to solved crystal structures of extracellular N-terminal domains of some mGluR types, only a few studies analyzed the conformation of intracellular receptor domains. Intracellular C-termini of most mGluR types are subject to alternative splicing and can be further modified by phosphorylation and SUMOylation. In this way, diverse interaction sites for intracellular proteins that bind to and regulate the glutamate receptors are generated. Indeed, most of the known mGluR binding partners interact with the receptors' C-terminal domains. Within the last years, different laboratories analyzed the structure of these domains and described the geometry of the contact surface between mGluR C-termini and interacting proteins. Here, I will review recent progress in the structure characterization of rnGluR C-termini and provide an up-to-date summary of the geometry of these domains in contact with binding partners. C1 Univ Erlangen Nurnberg, Emil Fischer Zentrum, Inst Biochem, D-91054 Erlangen, Germany. RP Enz, R (reprint author), Univ Erlangen Nurnberg, Emil Fischer Zentrum, Inst Biochem, Fahrstr 17, D-91054 Erlangen, Germany. EM ralf.enz@biochem.uni-erlangen.de FU Deutsche Forschungsgemeinschaft (DEG); Bundesministerium fur Bildung und Forschung (BMBF); Interdisciplinary Centre for Clinical Research (IZKF) at the university hospital of the Friedrich-Alexander-Universitat Erlangen -Nurnberg FX I thank Heike Meiselbach for providing graphics assembled in Figure 3 and Heinrich Sticht for critically reading the manuscript. Work in my laboratory is supported by grants from the Deutsche Forschungsgemeinschaft (DEG), the Bundesministerium fur Bildung und Forschung (BMBF) and the Interdisciplinary Centre for Clinical Research (IZKF) at the university hospital of the Friedrich-Alexander-Universitat Erlangen -Nurnberg. 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Molec. Neurosci. PY 2012 VL 5 DI 10.3389/fnmol.2012.00052 PG 11 WC Neurosciences SC Neurosciences & Neurology GA V36HD UT WOS:000209202600050 PM 22536173 ER PT J AU Sokolowski, K Corbin, JG AF Sokolowski, Katie Corbin, Joshua G. TI Wired for behaviors: from development to function of innate limbic system circuitry SO FRONTIERS IN MOLECULAR NEUROSCIENCE LA English DT Review DE innate; limbic system; development; olfaction; amygdala; hypothalamus; behaviors AB The limbic system of the brain regulates a number of behaviors that are essential for the survival of all vertebrate species including humans. The limbic system predominantly controls appropriate responses to stimuli with social, emotional, or motivational salience, which includes innate behaviors such as mating, aggression, and defense. Activation of circuits regulating these innate behaviors begins in the periphery with sensory stimulation (primarily via the olfactory system in rodents), and is then processed in the brain by a set of delineated structures that primarily includes the amygdala and hypothalamus. While the basic neuroanatomy of these connections is well-established, much remains unknown about how information is processed within innate circuits and how genetic hierarchies regulate development and function of these circuits. Utilizing innovative technologies including channel rhodopsin-based circuit manipulation and genetic manipulation in rodents, recent studies have begun to answer these central questions. In this article we review the current understanding of how limbic circuits regulate sexually dimorphic behaviors and how these circuits are established and shaped during pre- and post-natal development. 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Molec. Neurosci. PY 2012 VL 5 DI 10.3389/fnmol.2012.00055 PG 15 WC Neurosciences SC Neurosciences & Neurology GA V36HD UT WOS:000209202600053 PM 22557946 ER PT J AU Brown, J Rudie, JD Bandrowski, A Van Horn, JD Bookheimer, SY AF Brown, JesseA. Rudie, Jeffrey D. Bandrowski, Anita Van Horn, John D. Bookheimer, Susan Y. TI The UCLA multimodal connectivity database: a web-based platform for brain connectivity matrix sharing and analysis SO FRONTIERS IN NEUROINFORMATICS LA English DT Article DE graph theory; data sharing; functional connectivity; structural connectivity; resting-state fMRI; diffusion-weighted MRI AB Brain connectomics research has rapidly expanded using functional MBI (fMRI) and diffusion-weighted MRI (dwMRI). A common product of these varied analyses is a connectivity matrix (CM). A CM stores the connection strength between any two regions ("nodes") in a brain network. This format is useful for several reasons: (1) it is highly distilled, with minimal data size and complexity, (2) graph theory can be applied to characterize the network's topology, and (3) it retains sufficient information to capture individual differences such as age, gender, intelligence quotient (10), or disease state. Here we introduce the UCLA Multimodal Connectivity Database (http://umcd.humanconnectomeproject.org), an openly available website for brain network analysis and data sharing. The site is a repository for researchers to publicly share CMs derived from their data The site also allows users to select any CM shared by another user, compute graph theoretical metrics on the site, visualize a report of results, or download the raw CM. To date, users have contributed over 2000 individual CMs, spanning different imaging modalities (fMAI, dwMBI) and disorders (Alzheimer's, autism, Attention Deficit Hyperactive Disorder). To demonstrate the site's functionality, whole brain functional and structural connectivity matrices are derived from 60 subjects' (ages 26-45) resting state fMRI (rs-fMRI) and dwMRI data and uploaded to the site The site is utilized to derive graph theory global and regional measures for the rs-fMRI and dwMRI networks. Global and nodal graph theoretical measures between functional and structural networks exhibit low correspondence. This example demonstrates how this tool can enhance the comparability of brain networks from different imaging modalities and studies. The existence of this connectivity based repository should foster broader data sharing and enable larger scale meta-analyses comparing networks across imaging modality, age group, and disease state. C1 [Brown, JesseA.; Bookheimer, Susan Y.] Univ Calif Los Angeles, Ctr Cognit Neurosci, Los Angeles, CA 90095 USA. [Brown, JesseA.; Bookheimer, Susan Y.] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA. [Rudie, Jeffrey D.] Univ Calif Los Angeles, Interdept Program Neurosci, Los Angeles, CA 90095 USA. [Rudie, Jeffrey D.] Univ Calif Los Angeles, Brain Mapping Ctr, Los Angeles, CA 90095 USA. [Bandrowski, Anita] Univ Calif San Diego, Ctr Res Biol Syst, San Diego, CA 92103 USA. [Van Horn, John D.] Univ Calif Los Angeles, Dept Neurol, Lab Neuroimaging, Los Angeles, CA 90095 USA. RP Brown, J (reprint author), Univ Calif Los Angeles, Semel Inst, 760 Westwood Plaza,B8-169, Los Angeles, CA 90095 USA. EM jbrown81@ucla.edu; jack.vanhorn@loni.ucla.edu FU NIH NRSA [F31AG035438-01]; NIH via NIDA [HHSN271200800035C] FX The UMCD is hosted by the Laboratory of Neuroimaging (LONI) at UCLA, in affiliation with the MGH-UCLA Human Connectome Project (HCP). Thanks to Joe Franco for assistance with the hosting of the UMCD. Thanks to Jonathan Cachat for assistance with NIF integration. Edward Lau and Mike Durnhofer provided valuable technical assistance in earlier stages of hosting. Tessa Harrison provided valuable comments on the manuscript. The work was supported by NIH NRSA F31AG035438-01 to Jesse A. Brown and NIH Neuroscience Blueprint HHSN271200800035C via NIDA. 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Neuroinformatics PY 2012 VL 6 DI 10.3389/fninf.2012.00028 PG 17 WC Mathematical & Computational Biology; Neurosciences SC Mathematical & Computational Biology; Neurosciences & Neurology GA V36IY UT WOS:000209207100028 PM 23226127 ER PT J AU Alawieh, A Zaraket, FA Li, JL Mondello, S Nokkari, A Razafsha, M Fadlallah, B Boustany, RM Kobeissy, FH AF Alawieh, Ali Zaraket, Fedi A. Li, Jian-Liang Mondello, Stefanie Nokkari, Amaly Razafsha, Mandi Fadlallah, Bilal Boustany, Rose-Mary Kobeissy, Fires H. TI Systems biology, bioinformatics, and biomarkers in neuropsychiatry SO FRONTIERS IN NEUROSCIENCE LA English DT Review DE systems biology; biomarkers; bioinformatics; psychiatry; data mining; proteomics; autism; omics AB Although neuropsychiatric (NP) disorders are among the top causes of disability worldwide with enormous financial costs, they can still be viewed as part of the most complex disorders that are of unknown etiology and incomprehensible pathophysiology. The complexity of NP disorders arises from their etiologic heterogeneity and the concurrent influence of environmental and genetic factors. In addition, the absence of rigid boundaries between the normal and diseased state, the remarkable overlap of symptoms among conditions, the high inter-individual and inter-population variations, and the absence of discriminative molecular and/or imaging biomarkers for these diseases makes difficult an accurate diagnosis. Along with the complexity of NP disorders, the practice of psychiatry suffers from a "top-down" method that relied on symptom checklists. Although checklist diagnoses cost less in terms of time and money, they are less accurate than a comprehensive assessment. Thus, reliable and objective diagnostic tools such as biomarkers are needed that can detect and discriminate among NP disorders. The real promise in understanding the pathophysiology of NP disorders lies in bringing back psychiatry to its biological basis in a systemic approach which is needed given the NP disorders' complexity to understand their normal functioning and response to perturbation. This approach is implemented in the systems biology discipline that enables the discovery of disease-specific NP biomarkers for diagnosis and therapeutics. Systems biology involves the use of sophisticated computer software "omics"-based discovery tools and advanced performance computational techniques in order to understand the behavior of biological systems and identify diagnostic and prognostic biomarkers specific for NP disorders together with new targets of therapeutics. In this review, we try to shed light on the need of systems biology, bioinformatics, and biomarkers in neuropsychiatry, and illustrate how the knowledge gained through these methodologies can be translated into clinical use providing clinicians with improved ability to diagnose, manage, and treat NP patients. C1 [Alawieh, Ali; Nokkari, Amaly; Boustany, Rose-Mary; Kobeissy, Fires H.] Amer Univ Beirut, Coll Med, Dept Biochem, Beirut, Lebanon. [Zaraket, Fedi A.] Amer Univ Beirut, Fac Engn & Architecture, Dept Elect & Comp Engn, Beirut, Lebanon. [Li, Jian-Liang] Sanford Burnham Med Res Inst, Orlando, FL USA. [Mondello, Stefanie] Univ Messina, Dept Neurosci, Messina, Italy. [Razafsha, Mandi; Kobeissy, Fires H.] Univ Florida, Ctr Neuroprote & Biomarkers Res, Dept Psychiat, Div Addict Med, Gainesville, FL 32610 USA. [Fadlallah, Bilal] Univ Florida, Dept Elect & Comp Engn, Gainesville, FL 32610 USA. [Boustany, Rose-Mary] Amer Univ Beirut, Med Ctr, Dept Pediat, Beirut, Lebanon. RP Kobeissy, FH (reprint author), Univ Florida, Ctr Neuroprote & Biomarkers Res, Dept Psychiat, Div Addict Med, L4-100F,POB 100256, Gainesville, FL 32610 USA. 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CA Alzheimers Dis Neuroimaging Initia TI Discovery and replication of gene influences on brain structure using LASSO regression SO FRONTIERS IN NEUROSCIENCE LA English DT Article DE neuroimaging; MRI; imaging genetics; GWAS; LASSO; MACROD2 AB We implemented least absolute shrinkage and selection operator (LASSO) regression to evaluate gene effects in genome-wide association studies (GWAS) of brain images, using an MRI-derived temporal lobe volume measure from 729 subjects scanned as part of the Alzheimer's Disease Neuroimaging Initiative (ADNI). Sparse groups of SNPs in individual genes were selected by LASSO, which identifies efficient sets of variants influencing the data. These SNPs were considered jointly when assessing their association with neuroimaging measures. We discovered 22 genes that passed genome-wide significance for influencing temporal lobe volume. This was a substantially greater number of significant genes compared to those found with standard, univariate GWAS. These top genes are all expressed in the brain and include genes previously related to brain function or neuropsychiatric disorders such as MACROD2, SORCS2, GRIN2B, MAGI2, NPAS3, CLSTN2, GABRG3, NRXN3, PRKAG2, GAS7, RBFOX1, ADARB2, CHD4, and CDH13. The top genes we identified with this method also displayed significant and widespread post hoc effects on voxelwise, tensor-based morphometry (TBM) maps of the temporal lobes. The most significantly associated gene was an autism susceptibility gene known as MACROD2. We were able to successfully replicate the effect of the MACROD2 gene in an independent cohort of 564 young, Australian healthy adult twins and siblings scanned with MRI (mean age: 23.8 +/- 2.2 SD years). Our approach powerfully complements univariate techniques in detecting influences of genes on the living brain. C1 [Kohannim, Omid; Hibar, Derrek P.; Stein, Jason L.; Jahanshad, Neda; Hua, Xue; Rajagopalan, Priya; Toga, Arthur W.; Thompson, Paul M.] Univ Calif Los Angeles, Sch Med, Dept Neurol, Imaging Genet Ctr,Lab Neuro Imaging, Los Angeles, CA 90095 USA. [Jack, Clifford R., Jr.] Mayo Clin, Rochester, MN USA. [Weiner, Michael W.] Univ Calif San Francisco, Dept Radiol, San Francisco, CA USA. [Weiner, Michael W.] Univ Calif San Francisco, Dept Med, San Francisco, CA USA. [Weiner, Michael W.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA. [Weiner, Michael W.] Dept Vet Affairs Med Ctr, San Francisco, CA USA. [de Zubicaray, Greig I.] Univ Queensland, Sch Psychol, Brisbane, Qld, Australia. [McMahon, Katie L.] Univ Queensland, Ctr Adv Imaging, Brisbane, Qld, Australia. [Hansell, Narelle K.; Martin, Nicholas G.; Wright, Margaret J.] Queensland Inst Med Res, Brisbane, Qld 4006, Australia. RP Thompson, PM (reprint author), Univ Calif Los Angeles, Sch Med, Dept Neurol, Imaging Genet Ctr,Lab Neuro Imaging, Neurosci Res Bldg 225E,635 Charles Young Dr, Los Angeles, CA 90095 USA. EM thompson@loni.ucla.edu RI de Zubicaray, Greig/B-1763-2008 OI de Zubicaray, Greig/0000-0003-4506-0579 FU ADNI (National Institutes of Health) [U01 AG024904]; National Institute on Aging; National Institute of Biomedical Imaging and Bioengineering; Abbott; AstraZeneca AB; Bayer Schering Pharma AG; Bristol-Myers Squibb; Eisai Global Clinical Development; Elan Corporation; Genentech; GE Healthcare; GlaxoSmithKline; Innogenetics; Johnson and Johnson; Eli Lilly and Co.; Medpace, Inc.; Merck and Co., Inc.; Novartis AG; Pfizer Inc; F. Hoffman-La Roche; Schering-Plough; Synarc, Inc.; Alzheimer's Association and Alzheimer's Drug Discovery Foundation; U.S. Food and Drug Administration; NIH [P30 AG010129, K01 AG030514, F30 AG041681]; Dana Foundation; National Institute of Child Health and Human Development, USA [RO1 HD050735]; National Health and Medical Research Council, Australia [496682]; Australian Research Council [A7960034, A79906588, A79801419, DP0212016]; Australian Research Council Future Fellowship [FT0991634]; NSF GRFP [DGE-0707424]; UCLA Graduate Division FX Data collection and sharing for this project was funded by the ADNI (National Institutes of Health Grant U01 AG024904). ADNI is funded by the National Institute on Aging, the National Institute of Biomedical Imaging and Bioengineering, and through generous contributions from the following: Abbott, AstraZeneca AB, Bayer Schering Pharma AG, Bristol-Myers Squibb, Eisai Global Clinical Development, Elan Corporation, Genentech, GE Healthcare, GlaxoSmithKline, Innogenetics, Johnson and Johnson, Eli Lilly and Co., Medpace, Inc., Merck and Co., Inc., Novartis AG, Pfizer Inc, F. Hoffman-La Roche, Schering-Plough, Synarc, Inc., as well as nonprofit partners the Alzheimer's Association and Alzheimer's Drug Discovery Foundation, with participation from the U.S. Food and Drug Administration. Private sector contributions to ADNI are facilitated by the Foundation for the National Institutes of Health (www.fnih.org). The grantee organization is the Northern California Institute for Research and Education, and the study is coordinated by the Alzheimer's Disease Cooperative Study at the University of California, San Diego. ADNI data are disseminated by the Laboratory for Neuro Imaging at the University of California Los Angeles. This research was also supported by NIH grants P30 AG010129, K01 AG030514, and the Dana Foundation. We also thank the many contributors to ADNI-1 genotyping sample curation at NCRAD (Kelley Faber), performing BeadChip assays at TGen and initial quality control of genotypes (David Craig, April Allen, Jill Gerber, and Jason Corneveaux), and bioinformatics problem solving (Indiana U: Kwangsik Nho; Pfizer: Bryan DeChairo). The neuroimaging and genetic analysis of the twin dataset was supported by grant number RO1 HD050735 from the National Institute of Child Health and Human Development, USA, and Project Grant 496682 from the National Health and Medical Research Council, Australia. The collection of IQ data and zygosity typing was supported by the Australian Research Council (A7960034, A79906588, A79801419, and DP0212016). Greig I. de Zubicaray is supported by an Australian Research Council Future Fellowship (FT0991634). Additional support for algorithm development was provided by the NIA, NIBIB, and the National Center for Research Resources (AG016570, EB01651, and RR019771 to Paul M. Thompson). We are also grateful to the twins for their willingness to participate in our studies, and research nurses, Marlene Grace and Ann Eldridge, Queensland Institute of Medical Research, for twin recruitment. Derrek P. Hibar is partially supported by NSF GRFP grant DGE-0707424. Omid Kohannim is supported by NIH F30 AG041681 and the UCLA Graduate Division. 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We tested 10 high functioning people with ASD (7M, 3F) and 10 healthy controls who were matched on gender, age, and education. We found no significant differences between the two groups in terms of overall ability behaviorally to discriminate positive from negative slot machines, reaction-times, and valence ratings, However, there was a specific impairment in the ASD group in learning to choose social rewards, compared to monetary rewards: they had a significantly lower cumulative number of choices of the most rewarding social slot machine, and had a significantly slower initial learning rate for the socially rewarding slot machine, compared to the controls. The findings show a deficit in reward learning in ASD that is greater for social rewards than for monetary rewards, and support the hypothesis of a disproportionate impairment in social reward processing in ASD. C1 [Lin, Alice; Rangel, Antonio; Adolphs, Ralph] CALTECH, Pasadena, CA 91125 USA. [Rangel, Antonio; Adolphs, Ralph] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA. RP Adolphs, R (reprint author), CALTECH, Div Humanities & Social Sci, HSS 228-77, Pasadena, CA 91125 USA. EM adolphs@hss.caltech.edu FU Betty and Gordon Moore Foundation; NSF IGERT training grant; NIMH FX Supported in part by grants from the Betty and Gordon Moore Foundation (Antonio Rangel and Ralph Adolphs), an NSF IGERT training grant (Alice Lin), and a grant from NIMH (Ralph Adolphs). 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Neurosci. PY 2012 VL 6 DI 10.3389/fnins.2012.00143 PG 7 WC Neurosciences SC Neurosciences & Neurology GA V35RF UT WOS:000209165300149 PM 23060743 ER PT J AU Trivedi, MS Deth, RC AF Trivedi, Malav S. Deth, Richard C. TI Role of a redox-based methylation switch in mRNA life cycle (pre- and post-transcriptional maturation) and protein turnover: implications in neurological disorders SO FRONTIERS IN NEUROSCIENCE LA English DT Review DE alternative splicing; FMRP; glutathione; homeostatis; redox status; Rett syndrome; S-adenosylmethionine; synaptic scaling AB Homeostatic synaptic scaling in response to neuronal stimulus or activation, and due to changes in cellular niche, is an important phenomenon for memory consolidation, retrieval, and other similar cognitive functions (Turrigiano and Nelson, 2004). Neurological disorders and cognitive disabilities in autism, Rett syndrome, schizophrenia, dementia, etc., are strongly correlated to alterations in protein expression (both synaptic and cytoplasmic; Cajigas et al., 2010). This correlation suggests that efficient temporal regulation of synaptic protein expression is important for synaptic plasticity. In addition, equilibrium between mRNA processing, protein translation, and protein turnover is a critical sensor/trigger for recording synaptic information, normal cognition, and behavior (Cajigas et al., 2010). Thus a regulatory switch, which controls the lifespan, maturation, and processing of mRNA, might influence cognition and adaptive behavior. Here, we propose a two part novel hypothesis that methylation might act as this suggested coordinating switch to critically regulate mRNA maturation at (1) the pre-transcription level, by regulating precursor-RNA processing into mRNA, via other non-coding RNAs and their influence on splicing phenomenon, and (2) the post-transcription level by modulating the regulatory functions of ribonucleoproteins and RNA binding proteins in mRNA translation, dendritic translocation as well as protein synthesis and synaptic turnover. DNA methylation changes are well recognized and highly correlated to gene expression levels as well as, learning and memory; however, RNA methylation changes are recently characterized and yet their functional implications are not established. This review article provides some insight on the intriguing consequences of changes in methylation levels on mRNA life-cycle. We also suggest that, since methylation is under the control of glutathione anti-oxidant levels (Lertratanangkoon et al., 1997), the redox status of neurons might be the central regulatory switch for methylation-based changes in mRNA processing, protein expression, and turnover. Lastly, we also describe experimental methods and techniques which might help researchers to evaluate the suggested hypothesis. C1 [Trivedi, Malav S.; Deth, Richard C.] Northeastern Univ, Dept Pharmaceut Sci, Boston, MA 02115 USA. RP Trivedi, MS (reprint author), Northeastern Univ, Dept Pharmaceut Sci, 140 Fenway, Boston, MA 02115 USA. 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PY 2012 VL 6 DI 10.3389/fnins.2012.00092 PG 7 WC Neurosciences SC Neurosciences & Neurology GA V35RF UT WOS:000209165300005 PM 22740813 ER PT J AU Menard, C Quirion, R AF Menard, Caroline Quirion, Remi TI Group 1 metabotropic glutamate receptor function and its regulation of learning and memory in the aging brain SO FRONTIERS IN PHARMACOLOGY LA English DT Review DE metabotropic glutamate receptors; aging; learning; memory; synaptic plasticity AB Normal aging is generally characterized by a slow decline of cognitive abilities albeit with marked individual differences. Several animal models have been studied to explore the molecular and cellular mechanisms underlying this phenomenon. The excitatory neurotransmitter glutamate and its receptors have been closely linked to spatial learning and hippocampus-dependent memory processes. For decades, ionotropic glutamate receptors have been known to play a critical role in synaptic plasticity, a form of adaptation regulating memory formation. Over the past 10 years, several groups have shown the importance of group 1 metabotropic glutamate receptor (mGluR) in successful cognitive aging. These G-protein-coupled receptors are enriched in the hippocampal formation and interact physically with other proteins in the membrane including glutamate ionotropic receptors. Synaptic plasticity is crucial to maintain cognitive abilities and long-term depression (LTD) induced by group 1 mGluR activation, which has been linked to memory in the aging brain. The translation and synthesis of proteins by mGluR-LTD modulate ionotropic receptor trafficking and expression of immediate early genes related to cognition. Fragile X syndrome, a genetic form of autism characterized by memory deficits, has been associated to mGluR receptor malfunction and aberrant activation of its downstream signaling pathways. Dysfunction of mGluR could also be involved in neurodegenerative disorders like Alzheimer's disease (AD). Indeed, beta-amyloid, the main component of insoluble senile plagues and one of the hallmarks of AD, occludes mGluR-dependent LTD leading to diminished functional synapses. This review highlights recent findings regarding mGluR signaling, related synaptic plasticity, and their potential involvement in normal aging and neurological disorders. C1 [Menard, Caroline; Quirion, Remi] McGill Univ, Douglas Mental Hlth Univ Inst, Dept Psychiat, Montreal, PQ, Canada. RP Menard, C (reprint author), Douglas Mental Hlth Univ Inst, Perry Pavil,Room E 2118,6875 LaSalle Blvd, Montreal, PQ H4H 1R3, Canada. EM caroline.menard@douglas.mcgill.ca FU Canadian Institutes of Health Research (CIHR) [MOP-8580]; CIHR FX The authors would like to thank Mira Thakur for editing this manuscript. This research was supported by a grant from the Canadian Institutes of Health Research (CIHR) to Remi Quirion (Grant #MOP-8580). Caroline Menard is the recipient of a postdoctoral fellowship from CIHR. 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Pharmacol. PY 2012 VL 3 DI 10.3389/fphar.2012.00182 PG 12 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA V35XE UT WOS:000209177700175 PM 23091460 ER PT J AU Stafstrom, CE Rho, JM AF Stafstrom, Carl E. Rho, Jong M. TI The ketogenic diet as a treatment paradigm for diverse neurological disorders SO FRONTIERS IN PHARMACOLOGY LA English DT Review DE ketogenic diet; neuroplasticity; epilepsy; neurological disorders AB Dietary and metabolic therapies have been attempted in a wide variety of neurological diseases, including epilepsy, headache, neurotrauma, Alzheimer disease, Parkinson disease, sleep disorders, brain cancer, autism, pain, and multiple sclerosis. The impetus for using various diets to treat or at least ameliorate symptoms of these disorders stems from both a lack of effectiveness of pharmacological therapies, and also the intrinsic appeal of implementing a more "natural" treatment. The enormous spectrum of pathophysiological mechanisms underlying the aforementioned diseases would suggest a degree of complexity that cannot be impacted universally by any single dietary treatment. Yet, it is conceivable that alterations in certain dietary constituents could affect the course and impact the outcome of these brain disorders. Further, it is possible that a final common neurometabolic pathway might be influenced by a variety of dietary interventions. The most notable example of a dietary treatment with proven efficacy against a neurological condition is the high-fat, low-carbohydrate ketogenic diet (KD) used in patients with medically intractable epilepsy. While the mechanisms through which the KD works remain unclear, there is now compelling evidence that its efficacy is likely related to the normalization of aberrant energy metabolism. The concept that many neurological conditions are linked pathophysiologically to energy dysregulation could well provide a common research and experimental therapeutics platform, from which the course of several neurological diseases could be favorably influenced by dietary means. Here we provide an overview of studies using the KD in a wide panoply of neurologic disorders in which neuroprotection is an essential component. C1 [Stafstrom, Carl E.] Univ Wisconsin, Dept Neurol, Madison, WI 53706 USA. [Stafstrom, Carl E.] Univ Wisconsin, Dept Pediat, Madison, WI USA. [Rho, Jong M.] Univ Calgary, Dept Pediat, Fac Med, Calgary, AB T3B 6A8, Canada. [Rho, Jong M.] Univ Calgary, Dept Clin Neurosci, Fac Med, Calgary, AB T3B 6A8, Canada. RP Rho, JM (reprint author), Univ Calgary, Alberta Childrens Hosp, 2888 Shaganappi Trail Northwest, Calgary, AB T3B 6A8, Canada. 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Pharmacol. PY 2012 VL 3 DI 10.3389/fphar.2012.00059 PG 8 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA V35XE UT WOS:000209177700058 PM 22509165 ER PT J AU Arciuli, J Torkildsen, JV AF Arciuli, Joanne Torkildsen, Janne von Koss TI Advancing our understanding of the link between statistical learning and language acquisition: the need for longitudinal data SO FRONTIERS IN PSYCHOLOGY LA English DT Review DE statistical learning; language acquisition; longitudinal studies; language impairment; language proficiency AB Mastery of language can be a struggle for some children. Amongst those that succeed in achieving this feat there is variability in proficiency. Cognitive scientists remain intrigued by this variation. A now substantial body of research suggests that language acquisition is underpinned by a child's capacity for statistical learning (SL). Moreover, a growing body of research has demonstrated that variability in SL is associated with variability in language proficiency. Yet, there is a striking lack of longitudinal data. To date, there has been no comprehensive investigation of whether a capacity for SL in young children is, in fact, associated with language proficiency in subsequent years. Here we review key studies that have led to the need for this longitudinal research. Advancing the language acquisition debate via longitudinal research has the potential to transform our understanding of typical development as well as disorders such as autism, specific language impairment, and dyslexia. C1 [Arciuli, Joanne] Univ Sydney, Fac Hlth Sci, Lidcombe, NSW 1825, Australia. [Torkildsen, Janne von Koss] Univ Bergen, Dept Biol & Med Psychol, Bergen, Norway. RP Arciuli, J (reprint author), Univ Sydney, Fac Hlth Sci, POB 170, Lidcombe, NSW 1825, Australia. 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Psychol. PY 2012 VL 3 AR 247 DI 10.3389/fpsyg.2012.00247 PG 9 WC Psychology, Multidisciplinary SC Psychology GA V31DI UT WOS:000208863900258 PM 22866045 ER PT J AU Chen, GM Yoder, KJ Ganzel, BL Goodwin, MS Belmonte, MK AF Chen, Grace Megumi Yoder, Keith Jonathon Ganzel, Barbara Lynn Goodwin, Matthew S. Belmonte, Matthew Kenneth TI Harnessing repetitive behaviours to engage attention and learning in a novel therapy for autism: an exploratory analysis SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE autism; non-verbal; communication; repetitive behaviours; attention; gaze; eye contact; pointing AB Rigorous, quantitative examination of therapeutic techniques anecdotally reported to have been successful in people with autism who lack communicative speech will help guide basic science toward a more complete characterisation of the cognitive profile in this under-served subpopulation, and show the extent to which theories and results developed with the high-functioning subpopulation may apply. This study examines a novel therapy, the "Rapid Prompting Method" (RPM). RPM is a parent-developed communicative and educational therapy for persons with autism who do not speak or who have difficulty using speech communicatively. The technique aims to develop a means of interactive learning by pointing amongst multiple-choice options presented at different locations in space, with the aid of sensory "prompts" which evoke a response without cueing any specific response option. The prompts are meant to draw and to maintain attention to the communicative task making the communicative and educational content coincident with the most physically salient, attention-capturing stimulus and to extinguish the sensory motor preoccupations with which the prompts compete. Video-recorded RPM sessions with nine autistic children ages 8-14 years who lacked functional communicative speech were coded for behaviours of interest. An analysis controlled for age indicates that exposure to the claimed therapy appears to support a decrease in repetitive behaviours and an increase in the number of multiple-choice response options without any decrease in successful responding. Direct gaze is not related to successful responding, suggesting that direct gaze might not be any advantage for this population and need not in all cases be a precondition to communication therapies. C1 [Chen, Grace Megumi] Yale Univ, Sch Med, Yale Child Study Ctr, Dev Disabil Clin, New Haven, CT USA. [Yoder, Keith Jonathon] Univ Chicago, Div Social Sci, Chicago, IL 60637 USA. [Ganzel, Barbara Lynn] Cornell Univ, Dept Human Dev, Ithaca, NY USA. [Goodwin, Matthew S.] Northeastern Univ, Dept Hlth Sci, Bouve Coll Hlth Sci, Boston, MA 02115 USA. [Goodwin, Matthew S.] Northeastern Univ, Coll Comp & Informat Sci, Boston, MA 02115 USA. [Belmonte, Matthew Kenneth] Groden Ctr, Providence, RI USA. [Belmonte, Matthew Kenneth] Brown Univ, Ctr Study Human Dev, Providence, RI 02912 USA. [Belmonte, Matthew Kenneth] Natl Brain Res Ctr, Manesar 122050, Haryana, India. RP Belmonte, MK (reprint author), Natl Brain Res Ctr, NH 8, Manesar 122050, Haryana, India. 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Psychol. PY 2012 VL 3 AR 12 DI 10.3389/fpsyg.2012.00012 PG 16 WC Psychology, Multidisciplinary SC Psychology GA V31DI UT WOS:000208863900027 PM 22355292 ER PT J AU DePape, AMR Chen, AJ Hall, GBC Trainor, LJ AF DePape, Anne-Marie R. Chen, Aoju Hall, Geoffrey B. C. Trainor, Laurel J. TI Use of prosody and information structure in high functioning adults with Autism in relation to language ability SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE prosody; language ability; information structure; pitch; duration; Autism AB Abnormal prosody is a striking feature of the speech of those with Autism spectrum disorder (ASD), but previous reports suggest large variability among those with ASD. Here we show that part of this heterogeneity can be explained by level of language functioning. We recorded semi-spontaneous but controlled conversations in adults with and without ASD and measured features related to pitch and duration to determine (1) general use of prosodic features, (2) prosodic use in relation to marking information structure, specifically, the emphasis of new information in a sentence (focus) as opposed to information already given in the conversational context (topic), and (3) the relation between prosodic use and level of language functioning. We found that, compared to typical adults, those with ASD with high language functioning generally used a larger pitch range than controls but did not mark information structure, whereas those with moderate language functioning generally used a smaller pitch range than controls but marked information structure appropriately to a large extent. 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PY 2012 VL 3 AR 72 DI 10.3389/fpsyg.2012.00072 PG 13 WC Psychology, Multidisciplinary SC Psychology GA V31DI UT WOS:000208863900086 PM 22470358 ER PT J AU Karmiloff-Smith, A Broadbent, H Farran, EK Longhi, E D'Souza, D Metcalfe, K Tassabehji, M Wu, R Senju, A Happe, F Turnpenny, P Sansbury, F AF Karmiloff-Smith, Annette Broadbent, Hannah Farran, Emily K. Longhi, Elena D'Souza, Dean Metcalfe, Kay Tassabehji, May Wu, Rachel Senju, Atsushi Happe, Francesca Turnpenny, Peter Sansbury, Francis TI Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE social cognition; Williams syndrome; partial deletion patients; genetic disorders; autism spectrum disorders; genotype/phenotype relations AB Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in the WS critical region (WSCR) of chromosome 7q11.23 to this unusual social profile. In this paper, we provide details of two case studies of children with partial genetic deletions in the WSCR: an 11-year-old female with a deletion of 24 of the 28 WS genes, and a 14-year-old male who presents with the opposite profile, i.e., the deletion of only four genes at the telomeric end of the WSCR. We tested these two children on a large battery of standardized and experimental social perception and social cognition tasks - both implicit and explicit - as well as standardized social questionnaires and general psychometric measures. Our findings reveal a partial WS socio-cognitive profile in the female, contrasted with a more autistic-like profile in the male. We discuss the implications of these findings for genotype/phenotype relations, as well as the advantages and limitations of animal models and of case study approaches. C1 [Karmiloff-Smith, Annette; D'Souza, Dean; Wu, Rachel; Senju, Atsushi] Univ London, Birkbeck Ctr Brain & Cognit Dev, London WC1E 7HX, England. [Broadbent, Hannah; Farran, Emily K.] Univ London, Inst Educ, London WC1E 7HX, England. [Longhi, Elena] Milan Bicocca Univ, Dept Psychol, Milan, Italy. [Longhi, Elena] Univ Oxford, Milan, Italy. [Metcalfe, Kay; Tassabehji, May] St Marys Hosp, Manchester M13 0JH, Lancs, England. [Happe, Francesca] Kings Coll London, Inst Psychiat, London WC2R 2LS, England. [Turnpenny, Peter; Sansbury, Francis] Royal Devon & Exeter Fdn Trust, Exeter, Devon, England. [Turnpenny, Peter; Sansbury, Francis] Univ Exeter, Peninsula Coll Med & Dent, Exeter, Devon, England. [Turnpenny, Peter; Sansbury, Francis] Univ Plymouth, Peninsula Coll Med & Dent, Exeter, Devon, England. 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PY 2012 VL 3 AR 168 DI 10.3389/fpsyg.2012.00168 PG 8 WC Psychology, Multidisciplinary SC Psychology GA V31DI UT WOS:000208863900179 PM 22661963 ER PT J AU Losh, M Martin, GE Klusek, J Hogan-Brown, AL Sideris, J AF Losh, Molly Martin, Gary E. Klusek, Jessica Hogan-Brown, Abigail L. Sideris, John TI Social communication and theory of mind in boys with autism and fragile X syndrome SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE autism; fragile X syndrome; pragmatic language; social communication; theory of mind AB Impairments in the social use of language, or pragmatics, constitute a core characteristic of autism. Problems with pragmatic language have also been documented in fragile X syndrome (FXS), a monogenic condition that is the most common known genetic cause of autism. Evidence suggests that social cognitive ability, or theory of mind, may also be impaired in both conditions, and in autism, may importantly relate to pragmatic language ability. Given the substantial overlap observed in autism and FXS, this study aimed to better define those social-communicative phenotypes that overlap in these two conditions by comparing pragmatic language ability and theory of mind in children with idiopathic autism and children with FXS, with and without autism, as well as children with Down syndrome and typically developing controls. We further examined correlations between these cognitive-behavioral phenotypes and molecular genetic variation related to the Fragile X Mental Retardation-1 gene (FMR1) in the FXS group. Results indicated that children with idiopathic autism and those with FXS and autism performed comparably on direct-assessment measures of pragmatic language and theory of mind, whereas those with FXS only did not differ from controls. Theory of mind was related to pragmatic language ability in all groups. Pragmatic language and theory of mind also correlated with genetic variation at the FMR1 locus (Cytosine-Guanine-Guanine repeats and percent methylation). These results point toward substantial overlap in the social and language phenotypes in autism and FXS and suggest a molecular genetic basis to these phenotypic profiles. C1 [Losh, Molly; Hogan-Brown, Abigail L.] Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60208 USA. [Martin, Gary E.; Klusek, Jessica; Sideris, John] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA. [Martin, Gary E.; Klusek, Jessica] Univ N Carolina, Div Speech & Hearing Sci, Dept Allied Hlth Sci, Chapel Hill, NC USA. RP Losh, M (reprint author), Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60208 USA. 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The challenge arises, however, when trying to specify the neurocognitive mechanisms behind the reported observations of deviant patterns of goal-directed behavior in ASD. Studies trying to test specific assumptions by applying designs that are based on a more controlled experimental conditions often fail in providing strong evidence for an impairment in specific cognitive functions. In this review, we summarize and critically reflect on behavioral findings and their theoretical explanations regarding cognitive control processing in autism, also from a developmental perspective. The specific focus of this review is the recent evidence of deficits in intentional control a specific subset of cognitive control processes that biases the choice of our behavioral goals coming from different research fields. 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TI Social cognition in Williams syndrome: relations between performance on the social attribution task and cognitive and behavioral characteristics SO FRONTIERS IN PSYCHOLOGY LA English DT Article DE Williams syndrome; social cognition; social reciprocity; behavioral phenotype; social attribution task AB Williams syndrome (WS) is a developmental disorder of genetic origin, with characteristic cognitive and personality profiles. Studies of WS point to an outgoing and gregarious personality style, often contrasted with autism spectrum disorders; however, recent research has uncovered underlying social reciprocity difficulties in people with WS. Social information processing difficulties that underlie these social reciprocity difficulties have been sparsely examined. Participants in the current study included 24 children with WS ages 8 through 15. A lab-based measure of social perception and social cognition was administered (Social Attribution Test), as well as an intellectual functioning measure (KBIT-II) and parent reports of communication and reciprocal social skills (Social Communication Questionnaire, Social Responsiveness Scale). Relations between social cognition, cognitive abilities, and social-communication were examined. Results demonstrated relations between parent-reported social reciprocity and the typicality of the responses provided in the lab-based measure, even once variability in intellectual functioning was taken into account. Specifically, those individuals who produced narratives in response to the social attribution task (SAT) that were more similar to those described in previous studies of typically developing individuals were also reported to have fewer social reciprocity difficulties in the real world setting as reported by parents. In addition, a significant improvement in performance on the SAT was seen with added scaffolding, particularly for participants with stronger intellectual functioning. These findings indicate that difficulties interpreting the social dynamics between others in ambiguous situations may contribute to the social relationship difficulties observed in people with WS, above and beyond the role of intellectual functioning. Exploratory analyses indicated that performance by individuals with stronger intellectual functioning is improved with additional structure to a greater degree than for those with weaker intellectual functioning. Interventions that specifically target these social information processing of individuals with WS would likely be beneficial. C1 [van der Fluit, Faye; Klein-Tasman, Bonita P.] Univ Wisconsin, Dept Psychol, Child Neurodev Res Lab, Milwaukee, WI 53201 USA. [Gaffrey, Michael S.] Washington Univ, Dept Psychiat, Early Emotional Dev Program, St Louis, MO USA. 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Psychol. PY 2012 VL 3 AR 197 DI 10.3389/fpsyg.2012.00197 PG 11 WC Psychology, Multidisciplinary SC Psychology GA V31DI UT WOS:000208863900208 PM 22737137 ER PT J AU Avdjieva-Tzavella, DM Todorov, TP Todorova, AP Kirov, AV Hadjidekova, SP Rukova, BB Litvinenko, IO Hristova-Naydenova, DN Tincheva, RS Toncheva, DI AF Avdjieva-Tzavella, D. M. Todorov, T. P. Todorova, A. P. Kirov, A. V. Hadjidekova, S. P. Rukova, B. B. Litvinenko, I. O. Hristova-Naydenova, D. N. Tincheva, R. S. Toncheva, D. I. TI ANALYSIS OF THE GENES ENCODING NEUROLIGINS NLGN3 AND NLGN4 IN BULGARIAN PATIENTS WITH AUTISM SO GENETIC COUNSELING LA English DT Article DE Autism; Mutation screening; Neuroligin AB Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism: Many studies have supported a genetic aetiology for autism. Neuroligins are postsynaptically located cell-adhesion molecules. Mutations in two X-linked neuroligin genes, NLGN3 and NLGN4, have been implicated in pathogenesis of autism. In order to confirm these causative mutations in our autistic population and to determine their frequency we screened 20 individuals affected with autism. We identified one patient with a point mutation in NLGN4 gene that substituted a Met for Thr 787 -c.2360C>T, p.(Thr787Met) and three patients with identical polymorphisms in the same gene: c.933C>T, p.(Thr311Thr) in combination with c.[1777C>T+1779C>G, p.(Leu593Leu)]. All patients tested for NLGN3 mutations were negative. These results indicate that mutations in these genes are responsible for at most a small fraction of autism cases. C1 [Avdjieva-Tzavella, D. M.; Tincheva, R. S.] Med Univ Sofia, Univ Pediat Hosp, Dept Clin Genet, Sofia 1606, Bulgaria. [Todorov, T. P.; Todorova, A. P.; Kirov, A. V.] Med Univ Sofia, Dept Med Chem & Biochem, Sofia 1606, Bulgaria. [Hadjidekova, S. P.; Rukova, B. B.; Toncheva, D. 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EM davdjieva@yahoo.com FU Committee of Medical Sciences, Medical University Sofia, Bulgaria [27/27.07.2009] FX This study was financially supported by research grant No. 27/27.07.2009 of the Committee of Medical Sciences, Medical University Sofia, Bulgaria CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Bacchelli E, 2006, AM J MED GENET C, V142C, P13, DOI 10.1002/ajmg.c.30078 Blasi F, 2006, AM J MED GENET B, V141B, P220, DOI 10.1002/ajmg.b.30287 Chih B, 2005, SCIENCE, V307, P1324, DOI 10.1126/science.1107470 Choi YB, 2011, NEURON, V70, P468, DOI 10.1016/j.neuron.2011.03.020 Dean C, 2006, TRENDS NEUROSCI, V29, P21, DOI 10.1016/j.tins.2005.11.003 Fombonne E, 2005, J CLIN PSYCHIAT, V66, P3 Fombonne E, 2009, PEDIATR RES, V65, P591, DOI 10.1203/PDR.0b013e31819e7203 Gauthier J, 2005, AM J MED GENET B, V132B, P74, DOI 10.1002/ajmg.b.30066 Jamain S, 2003, NAT GENET, V34, P27, DOI 10.1038/ng1136 Laumonnier F, 2004, AM J HUM GENET, V74, P552, DOI 10.1086/382137 Prange O, 2004, P NATL ACAD SCI USA, V101, P13915, DOI 10.1073/pnas.0405939101 Rubenstein JLR, 2003, GENES BRAIN BEHAV, V2, P255, DOI 10.1046/j.1601-183X.2003.00037.x Tager-Flusberg H, 2003, PHILOS T ROY SOC B, V358, P303, DOI 10.1098/rstb.2002.1198 Talebizadeh Z, 2004, J AUTISM DEV DISORD, V34, P735, DOI 10.1007/s10803-004-5295-x Talebizadeh Z, 2006, J MED GENET, V43, DOI 10.1136/jmg.2005.036897 Vincent JB, 2004, AM J MED GENET B, V129B, P82, DOI 10.1002/ajmg.b.30069 World Health Organization, 1993, INT CLASS DIS 10 REV Yan J, 2005, MOL PSYCHIATR, V10, P329, DOI 10.1038/sj.mp.4001629 Ylisaukko-oja T, 2005, EUR J HUM GENET, V13, P1285, DOI 10.1038/sj.ejhg.5201474 NR 20 TC 3 Z9 3 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 2012 VL 23 IS 4 BP 505 EP 511 PG 7 WC Biotechnology & Applied Microbiology; Genetics & Heredity; Medical Ethics; Medicine, Research & Experimental SC Biotechnology & Applied Microbiology; Genetics & Heredity; Medical Ethics; Research & Experimental Medicine GA V32NT UT WOS:000208958600011 PM 23431752 ER PT J AU de-Wit, L Evers, K Haesen, B Wagemans, J AF de-Wit, Lee Evers, Kris Haesen, Birgitt Wagemans, Johan TI What is a visual object? Evidence from the reduced interference of grouping in multiple object tracking for children with autism spectrum disorders SO I-PERCEPTION LA English DT Meeting Abstract C1 [de-Wit, Lee; Evers, Kris; Haesen, Birgitt; Wagemans, Johan] Res Fdn Flanders, Antwerp, Belgium. EM lee.dewit@psy.kuleuven.be NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 2041-6695 J9 I-PERCEPTION JI I-Perception PY 2012 VL 3 IS 4 BP 228 EP 228 PG 1 WC Psychology, Experimental SC Psychology GA V32HN UT WOS:000208942400014 ER PT J AU Simmons, DR Robertson, AE AF Simmons, D. R. Robertson, A. E. TI Visual symptoms in adults with autism spectrum disorders SO I-PERCEPTION LA English DT Meeting Abstract C1 [Simmons, D. R.; Robertson, A. E.] Univ Glasgow, Sch Psychol, Glasgow G12 8QQ, Lanark, Scotland. EM David.Simmons@gla.ac.uk RI Simmons, David/A-4916-2012 NR 0 TC 2 Z9 2 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 2041-6695 J9 I-PERCEPTION JI I-Perception PY 2012 VL 3 IS 6 BP 397 EP 397 PG 1 WC Psychology, Experimental SC Psychology GA V32HP UT WOS:000208942600015 ER PT J AU Thompson, SA AF Thompson, S. Anthony TI Thrice disabling disability: enabling inclusive, socially just teacher education SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION LA English DT Article DE First Nations views of disability; disability studies in education; autism pride/autism-as-culture; teacher education; teacher candidates ID RESISTANCE; IDENTITY; PEDAGOGY; LITERATE; AUTISM AB The goal of this inquiry was to create a social justice-oriented inclusive and enabling pedagogy by situating traditional individualised views of disability alongside three alternative understandings: a disability studies in education perspective, a First Nations view of disability and one based upon the autism pride/autism-as-culture movement. Using both these conventional and somewhat unconventional views of disability, a self-reflective case study was conducted in which the author attempted to facilitate an inclusive pedagogy in a university class, 'Working with Diversity and Difference'. At course conclusion, the author explored teacher candidates' notions of disablement and inclusive practices/strategies. Data sources included five focus group transcripts, 12 weeks of online discussion board postings and eight student assignments, namely inclusive teacher resource files. Data were triangulated and second-level member checks completed. Some students reported how the pedagogy enabled a reflective practice such that it disrupted their ableistic educational impulses, while others talked more about specific classroom implications to facilitate inclusion. Interestingly, when most students entered into the inclusive conversation beginning from a particular exceptionality, label, or diagnosis (such as intellectual disability), they tended to do so exclusively from an individualised medical model view of disability. Implications for inclusive teacher education pedagogies are discussed. C1 Univ Regina, Fac Educ, Regina, SK S4S 0A2, Canada. 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PY 2012 VL 16 IS 1 BP 99 EP 117 DI 10.1080/13603111003671640 PG 19 WC Education & Educational Research SC Education & Educational Research GA 914KQ UT WOS:000301949100007 ER PT J AU Sharkey, L McNicholas, F AF Sharkey, Louise McNicholas, Fiona TI Selective Mutism: A prevalence study of primary school children in the Republic of Ireland SO IRISH JOURNAL OF PSYCHOLOGICAL MEDICINE LA English DT Article AB Objective: This study was carried out to determine the prevalence of selective mutism (SM) in an urban school population and to assess comorbidity and family characteristics. Method: Teachers of primary schools, teaching children between the ages of four and 12, were sent a description of SM and asked to complete the selective mutism questionnaire (SMQ) if they believed a child in their class met criteria. Thirty-nine schools were sampled, covering a catchment area of 10,927 children. Children who screened positive on the SMQ were offered a full psychiatric assessment. Parent, child and clinicians completed various rating scales. Results: A response rate of 100% from schools was obtained. The prevalence rate of SM was 0.18% (20/10927). fourteen (70%) attended for further evaluation. All children scored within the clinical range on the Clinical Global Assessment Scale (CGAS), indicating moderate to severe impairment. fifty percent (7) reported a family history of social anxiety disorder, and 43% (6) autistic spectrum disorders. Conclusion: This is the first Irish based prevalence study of SM. Results indicate that SM is not as rare as previously believed. Children with SM were found to have significant functional impairment along with a strong family history of anxiety and autism. RP Sharkey, L (reprint author), Mater Misericordiae Univ Hosp, Mater Child & Adolescent Mental Hlth Serv, Dublin 7, Ireland. 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Psychol. Med. PY 2012 VL 29 IS 1 BP 36 EP 40 DI 10.1017/S0790966700017596 PG 5 WC Psychology; Psychology, Multidisciplinary SC Psychology GA V33NW UT WOS:000209026500007 ER PT J AU Richman, DM Dotson, WH Rose, CA Thompson, S Abby, L AF Richman, David M. Dotson, Wesley H. Rose, Chad A. Thompson, Samuel Abby, Layla TI Effects of Age on the Types and Severity of Excessive Fear or the Absence of Fear in Children and Young Adults With Autism SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE fears; phobias; autism; autism spectrum disorder; quality of life; risk-taking behavior; child safety AB This study identified (a) patterns of fearful stimuli for children and young adults with autism spectrum disorder (ASD), (b) the severity of the fear, and (c) whether excessive fear or the absence of fear negatively affected the participant's quality of life. A web-based survey was used to distribute a modified and extended version of the Fear Survey Schedule for Children-Revised (Ollendick, 1983) to 328 families with children with ASD. Sixty respondents completed the survey, representing a cross section of individuals with ASD from 3 to 22 years old. Responses were analyzed using both descriptive and multivariate statistical analyses for the total sample and the 3 age groups: 3-7, 8-13, and 14-22 years old. The overall severity of fears decreased and the types of stimuli feared changed from concrete (getting a shot, going to the dentist) to more socially based (being evaluated, being teased) with increasing age. Thus, although the severity of fears may decrease throughout childhood and into early adulthood, the fears that are present may actually have a greater negative effect on daily life functioning and thus warrant prevention attempts to reduce the probability that fears will become more debilitating and restrict their vocational and recreational activities. Results are discussed in terms of early intervention and potential prevention of excessive fears in ASD. C1 [Richman, David M.; Dotson, Wesley H.; Thompson, Samuel; Abby, Layla] Texas Tech Univ, Burkhart Ctr Autism Educ & Res, Lubbock, TX 79409 USA. [Rose, Chad A.] Sam Houston State Univ, Dept Language Literacy & Special Populat, Huntsville, TX USA. RP Richman, DM (reprint author), Texas Tech Univ, Burkhart Ctr Autism Educ & Res, 3008 18th St,Room 113,TTU Mailstop 1071, Lubbock, TX 79409 USA. EM d.richman@ttu.edu CR Braun V., 2006, QUALITATIVE RES PSYC, V3, P77, DOI DOI 10.1191/1478088706QP063OA Evans DW, 2005, CHILD PSYCHIAT HUM D, V36, P3, DOI 10.1007/s10578-004-3619-x Gullone E, 1999, Clin Child Fam Psychol Rev, V2, P91, DOI 10.1023/A:1021895630678 Gullone E, 2000, CLIN PSYCHOL REV, V20, P429, DOI 10.1016/S0272-7358(99)00034-3 Klin A, 2005, J AUTISM DEV DISORD, V35, P221, DOI 10.1007/s10803-005-2001-6 Matson J. L., 1990, J INTELLECT DEV DIS, V16, P349, DOI 10.1080/07263869000034161 Mills R., 2005, RES INTERVENTIONS AS Muris P, 1998, J ANXIETY DISORD, V12, P387, DOI 10.1016/S0887-6185(98)00022-X OLLENDICK TH, 1983, BEHAV RES THER, V21, P685, DOI 10.1016/0005-7967(83)90087-6 Wood JJ, 2010, CLIN PSYCHOL-SCI PR, V17, P281, DOI 10.1111/j.1468-2850.2010.01220.x NR 10 TC 0 Z9 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 1931-5864 EI 1931-5872 J9 J MENT HEALTH RES IN JI J. Ment. Health Res. Intellect. Disabil. PY 2012 VL 5 IS 3-4 SI SI BP 215 EP 235 DI 10.1080/19315864.2011.596614 PG 21 WC Education, Special; Psychiatry; Rehabilitation SC Education & Educational Research; Psychiatry; Rehabilitation GA V33JB UT WOS:000209014000002 ER PT J AU MacLean, WE Dornbush, K AF MacLean, William E. Dornbush, Kylee TI Self-Injury in a Statewide Sample of Young Children With Developmental Disabilities SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE self-injury; prevalence; intellectual disability; young children; problem behaviors AB Self-injurious behavior (SIB) is a devastating condition associated with intellectual and developmental disabilities (IDD). Efforts to understand its development are focused on early childhood when the behavior first emerges. Limited prevalence data on SIB during early childhood are currently available. The purpose of this study was to determine the prevalence of SIB in a sample of children with IDD between the ages of 18 and 72 months and associated demographic, diagnostic, and behavioral characteristics. The prevalence rate was 19.1% for SIB including head banging, self-biting, and hitting self. Factors associated with SIB in adults, such as severe intellectual disability; visual, hearing, or mobility impairment; or diagnoses of autism, cerebral palsy, or seizure disorder were not associated with SIB in these children. However, children with SIB had higher rates of Hurtful to Others than the contrast group. Issues related to the characterization of SIB in young children are also discussed. C1 [MacLean, William E.; Dornbush, Kylee] Univ Wyoming, Wyoming Inst Disabil, Laramie, WY 82071 USA. RP MacLean, WE (reprint author), Univ Wyoming, Wyoming Inst Disabil, 1000 East Univ Ave, Laramie, WY 82071 USA. 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Ment. Health Res. Intellect. Disabil. PY 2012 VL 5 IS 3-4 SI SI BP 236 EP 245 DI 10.1080/19315864.2011.590627 PG 10 WC Education, Special; Psychiatry; Rehabilitation SC Education & Educational Research; Psychiatry; Rehabilitation GA V33JB UT WOS:000209014000003 ER PT J AU Pietzak, M AF Pietzak, Michelle TI Celiac Disease, Wheat Allergy, and Gluten Sensitivity: When Gluten Free Is Not a Fad SO JOURNAL OF PARENTERAL AND ENTERAL NUTRITION LA English DT Article DE gluten; gluten-free diet; celiac disease; wheat allergy; gluten sensitivity; dermatitis herpetiformis; ataxia; autism; irritable bowel syndrome ID IRRITABLE-BOWEL-SYNDROME; FREE DIET; TISSUE TRANSGLUTAMINASE; UNITED-STATES; MULTIPLE-SCLEROSIS; FOLLOW-UP; ATAXIA; CHILDHOOD; RISK; BRAIN AB As the gluten-free diet (GFD) gains in popularity with the general public, health practitioners are beginning to question its real health benefits. For those patients with celiac disease (CD), the GFD is considered medical nutrition therapy, as well as the only proven treatment that results in improvements in symptomatology and small bowel histology. Those with wheat allergy also benefit from the GFD, although these patients often do not need to restrict rye, barley, and oats from their diet. Gluten sensitivity is a controversial subject, where patients who have neither CD nor wheat allergy have varying degrees of symptomatic improvement on the GFD. Conditions in this category include dermatitis herpetiformis (DH), irritable bowel syndrome (IBS), and neurologic diseases such as gluten-sensitive ataxia and autism. It is important for patients and healthcare practitioners to understand the differences between these conditions, even though they may all respond to a GFD. Patients with CD can experience comorbid nutrition deficiencies and are at higher risk for the development of cancers and other autoimmune conditions. Those with wheat allergy and gluten sensitivity are thought not to be at higher risk for these complications. Defining the symptoms and biochemical markers for gluten-sensitive conditions is an important area for future investigations, and high-quality, large-scale randomized trials are needed to prove the true benefits of the GFD in this evolving field. C1 [Pietzak, Michelle] Univ So Calif, Keck Sch Med, Los Angeles Cty Univ So Calif Med Ctr, Los Angeles, CA 90033 USA. [Pietzak, Michelle] Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA. RP Pietzak, M (reprint author), Univ So Calif, Keck Sch Med, 2020 Zonal Ave, Los Angeles, CA 90033 USA. EM pietzak@usc.edu FU Nestle Nutrition Institute FX The publication of the supplement in which this article appears is sponsored by Nestle Nutrition Institute. 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Parenter. Enter. Nutr. PD JAN PY 2012 VL 36 SU 1 BP 68S EP 75S DI 10.1177/0148607111426276 PG 8 WC Nutrition & Dietetics SC Nutrition & Dietetics GA 276EA UT WOS:000328729700013 PM 22237879 ER PT J AU Boorin, S AF Boorin, Susan TI Cardiometabolic Side Effects of Risperidone in Children With Autism SO JOURNAL OF THE AMERICAN PSYCHIATRIC NURSES ASSOCIATION LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1078-3903 EI 1532-5725 J9 J AM PSYCHIAT NURSES JI J. Am. Psych. Nurses Assoc. PD JAN-FEB PY 2012 VL 18 IS 1 BP 41 EP 41 PG 1 WC Nursing; Psychiatry SC Nursing; Psychiatry GA V32PK UT WOS:000208962900011 ER PT J AU Elia, J Glessner, JT Wang, K Takahashi, N Shtir, CJ Hadley, D Sleiman, PMA Zhang, HT Kim, CE Robison, R Lyon, GJ Flory, JH Bradfield, JP Imielinski, M Hou, CP Frackelton, EC Chiavacci, RM Sakurai, T Rabin, C Middleton, FA Thomas, KA Garris, M Mentch, F Freitag, CM Steinhausen, HC Todorov, AA Reif, A Rothenberger, A Franke, B Mick, EO Roeyers, H Buitelaar, J Lesch, KP Banaschewski, T Ebstein, RP Mulas, F Oades, RD Sergeant, J Sonuga-Barke, EJS Renner, TJ Romanos, M Romanos, J Warnke, A Walitza, S Meyer, J Palmason, H Seitz, C Loo, SK Smalley, SL Biederman, J Kent, L Asherson, P Anney, RJL Gaynor, JW Shaw, P Devoto, M White, PS Grant, SFA Buxbaum, JD Rapoport, JL Williams, NM Nelson, SF Faraone, SV Hakonarson, H AF Elia, Josephine Glessner, Joseph T. Wang, Kai Takahashi, Nagahide Shtir, Corina J. Hadley, Dexter Sleiman, Patrick M. A. Zhang, Haitao Kim, Cecilia E. Robison, Reid Lyon, Gholson J. Flory, James H. Bradfield, Jonathan P. Imielinski, Marcin Hou, Cuiping Frackelton, Edward C. Chiavacci, Rosetta M. Sakurai, Takeshi Rabin, Cara Middleton, Frank A. Thomas, Kelly A. Garris, Maria Mentch, Frank Freitag, Christine M. Steinhausen, Hans-Christoph Todorov, Alexandre A. Reif, Andreas Rothenberger, Aribert Franke, Barbara Mick, Eric O. Roeyers, Herbert Buitelaar, Jan Lesch, Klaus-Peter Banaschewski, Tobias Ebstein, Richard P. Mulas, Fernando Oades, Robert D. Sergeant, Joseph Sonuga-Barke, Edmund J. S. Renner, Tobias J. Romanos, Marcel Romanos, Jasmin Warnke, Andreas Walitza, Susanne Meyer, Jobst Palmason, Haukur Seitz, Christiane Loo, Sandra K. Smalley, Susan L. Biederman, Joseph Kent, Lindsey Asherson, Philip Anney, Richard J. L. Gaynor, J. William Shaw, Philip Devoto, Marcella White, Peter S. Grant, Struan F. A. Buxbaum, Joseph D. Rapoport, Judith L. Williams, Nigel M. Nelson, Stanley F. Faraone, Stephen V. Hakonarson, Hakon TI Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder SO NATURE GENETICS LA English DT Article ID SPONTANEOUSLY HYPERTENSIVE-RAT; AUTISM SPECTRUM DISORDERS; HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA; DEFICIT/HYPERACTIVITY-DISORDER; MICE LACKING; CHILDREN; ADHD; REPLICATION; LINKAGE AB Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 x 10(-9)). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 x 10(-6)). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in similar to 10% of the cases (P = 4.38 x 10(-10)) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts. C1 [Glessner, Joseph T.; Wang, Kai; Hadley, Dexter; Sleiman, Patrick M. A.; Zhang, Haitao; Kim, Cecilia E.; Flory, James H.; Bradfield, Jonathan P.; Imielinski, Marcin; Hou, Cuiping; Frackelton, Edward C.; Chiavacci, Rosetta M.; Thomas, Kelly A.; Garris, Maria; Mentch, Frank] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA. [Elia, Josephine] Univ Penn, Sch Med, Dept Psychiat, Philadelphia, PA 19104 USA. [Elia, Josephine] Childrens Hosp Philadelphia, Dept Child & Adolescent Psychiat, Philadelphia, PA 19104 USA. [Takahashi, Nagahide; Sakurai, Takeshi; Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Psychiat, Lab Mol Neuropsychiat, New York, NY USA. [Shtir, Corina J.] Univ Calif Los Angeles, Dept Human Genet & Psychiat, Los Angeles, CA USA. [Robison, Reid; Lyon, Gholson J.] Univ Utah, Dept Psychiat, Salt Lake City, UT USA. [Rabin, Cara; Shaw, Philip] NIMH, Child Psychiat Branch, Bethesda, MD 20892 USA. [Middleton, Frank A.; Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY USA. [Freitag, Christine M.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosom & psyc, Frankfurt, Germany. [Steinhausen, Hans-Christoph; Asherson, Philip] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland. [Steinhausen, Hans-Christoph] Aarhus Univ Hosp, Aalborg Psychiat Hosp, DK-8000 Aarhus, Denmark. [Steinhausen, Hans-Christoph] Univ Basel, Inst Psychol, Basel, Switzerland. [Todorov, Alexandre A.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA. [Reif, Andreas; Lesch, Klaus-Peter] Univ Wurzburg, Attent Deficit Hyperact Disorder Clin Res Network, Unit Mol Psychiat, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany. [Rothenberger, Aribert] Univ Gottingen, Gottingen, Germany. [Franke, Barbara] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands. [Franke, Barbara] Radboud Univ Nijmegen, Med Ctr, Dept Psychiat, Donders Inst Brain Cognit & Behav,Ctr Neurosci, NL-6525 ED Nijmegen, Netherlands. [Mick, Eric O.; Biederman, Joseph] Harvard Univ, Sch Med, Dept Psychiat, Massachusetts Gen Hosp, Boston, MA 02115 USA. [Roeyers, Herbert] Univ Ghent, Dept Expt Clin & Hlth Psychol, B-9000 Ghent, Belgium. [Buitelaar, Jan] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands. [Banaschewski, Tobias] Heidelberg Univ, Dept Child & Adolescent Psychiat & Psychotherapy, Cent Inst Mental Hlth, D-6800 Mannheim, Germany. [Ebstein, Richard P.] Natl Univ Singapore, Dept Psychol, Queenstown, Singapore. [Mulas, Fernando] La Fe Univ Hosp, Fac Med, Dept Neuropaediat, Valencia, Spain. [Oades, Robert D.] Univ Duisburg Essen, Clin Child & Adolescent Psychiat, Essen, Germany. [Sergeant, Joseph] Vrije Univ Amsterdam, Amsterdam, Netherlands. [Sonuga-Barke, Edmund J. S.] Univ Southampton, Sch Psychol, Inst Disorder Impulse & Attent, Southampton, Hants, England. [Sonuga-Barke, Edmund J. S.] Univ Ghent, Dept Expt Clin & Hlth Psychol, B-9000 Ghent, Belgium. [Sonuga-Barke, Edmund J. S.] NYU, Ctr Child Study, New York, NY USA. [Renner, Tobias J.; Romanos, Marcel; Romanos, Jasmin; Warnke, Andreas; Walitza, Susanne] Univ Wurzburg, Dept Child & Adolescent Psychiat Psychosomat & Ps, Wurzburg, Germany. [Romanos, Marcel] Univ Hosp Munich, Dept Child & Adolescent Psychiat Psychosomat & Ps, Munich, Germany. [Meyer, Jobst; Palmason, Haukur] Univ Trier, Dept Neurobehav Genet, Inst Psychobiol, Trier, Germany. [Seitz, Christiane] Univ Saarland, Dept Child & Adolescent Psychiat, D-6650 Homburg, Germany. [Loo, Sandra K.; Smalley, Susan L.] Univ Calif Los Angeles, Dept Psychiat & Behav Sci, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA. [Kent, Lindsey] Bute Med Sch, St Andrews, Fife, Scotland. [Anney, Richard J. L.] St James Hosp, Dept Psychiat, Trinity Ctr Hlth Sci, Dublin 8, Ireland. [Gaynor, J. William; Hakonarson, Hakon] Childrens Hosp Philadelphia, Div Cardiothorac Surg, Philadelphia, PA 19104 USA. [Devoto, Marcella; Grant, Struan F. A.; Hakonarson, Hakon] Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA. [Devoto, Marcella; Grant, Struan F. A.] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA. [Devoto, Marcella] Univ Roma La Sapienza, Dipartimento Med Sperimentale, Rome, Italy. [Devoto, Marcella] Univ Penn, Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA. [White, Peter S.] Childrens Hosp Philadelphia, Ctr Biomed Informat, Philadelphia, PA 19104 USA. [White, Peter S.] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA. [Williams, Nigel M.] Cardiff Univ, Sch Med, Dept Psychol Med, Cardiff, S Glam, Wales. [Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY USA. [Hakonarson, Hakon] Childrens Hosp Philadelphia, Div Pulm Med, Philadelphia, PA 19104 USA. RP Hakonarson, H (reprint author), Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA. EM hakonarson@email.chop.edu RI Lyon, Gholson/D-2765-2014; Renner, Tobias/I-2120-2013; Franke, Barbara/D-4836-2009; Nelson, Stanley/D-4771-2009; Sonuga-Barke, Edmund/D-9137-2011; Buitelaar, Jan/E-4584-2012; gaynor, j/E-5194-2013; Lesch, Klaus-Peter/J-4906-2013 OI Lyon, Gholson/0000-0002-5869-0716; Franke, Barbara/0000-0003-4375-6572; Buitelaar, Jan/0000-0001-8288-7757; gaynor, j/0000-0001-7955-5604; Lesch, Klaus-Peter/0000-0001-8348-153X FU US National Institutes of Health (NIH) [R01MH62873]; NIH [K23MH066275]; Pfizer; CHOP; University of Pennsylvania National Center for Research Resources [UL1-RR-024134]; Cotswold Foundation; US Department of Health and Human Services [1RC2MH089924]; Seaver Foundation; NIMH [P50MH066392]; Deutsche Forschungsgemeinschaft [KFO 125, SFB 581, SFB TRR 58, ME 1923/5-1, ME 1923/5-3]; Bundesministerium fur Bildung und Forschung (BMBF) [01GV0605] FX We thank the IMAGE, IMAGE II and PUWMa consortium investigators and the NIMH for making the genotype data available. Funding support for International Multi-Center ADHD Genetics (IMAGE) and IMAGE II Projects was provided by US National Institutes of Health (NIH) grant R01MH62873 to S. V. F., and the genotyping of samples was provided through the Genetic Association Information Network (GAIN). The dataset used for the IMAGE analyses described in this manuscript were obtained from the database of Genotype and Phenotype (dbGaP), which is found at http://www.ncbi.nlm.nih.gov/gap, through dbGaP accession numbers phs000016.v2.p2 (ADHD IMAGE), phs000020.v2.p1 (depression) and phs000019.v1.p1 (psoriasis). Samples and associated phenotype data for the GAIN Major Depression: Stage 1 Genome-wide Association In Population Based Samples Study (principal investigator, P. F. Sullivan, University of North Carolina) were provided by D. I. Boomsma and E. de Geus, Vrije Universiteit Amsterdam (principal investigators, Netherlands Twin Register); B. W. Penninx, Vrije Universiteit Medical Center Amsterdam; F. Zitman, Leiden University Medical Center, Leiden; and W. Nolen, University Medical Center Groningen (principal investigators and site principal investigators, Netherlands Study of Depression and Anxiety). Samples and associated phenotype data for the Collaborative Association Study of Psoriasis were provided by J.T. Elder (University of Michigan, Ann Arbor, Michigan), G. G. Krueger (University of Utah, Salt Lake City, Utah), A. Bowcock (Washington University, St. Louis, Missouri) and G. R. Abecasis (University of Michigan, Ann Arbor, Michigan). Samples and associated phenotype data for the International Multi-Center ADHD Genetics Project were provided by the following investigators: S. V. F. (principal investigator), R.J.L.A., P. A., J.S., R. P. E., B. F., M. Gill, A. Miranda, F. Mulas, R. D. O., H. R., A. Rothenberger, T. B., J. Buitelaar, E. Sonuga-Barke and H.-C. S. (site principal investigators), M. Daly, C. Lange, N. Laird, J. Su and B. Neale (statistical analysis team). Samples and associated phenotype data were accessed through an authorized data access request by H. H. and S. F. A. G. Data collection for the PUWMa sample was supported by NIH grants to S. V. F., J. Biederman, S. Smalley, R. Todd and A. A. T. GWAS genotyping of the PUWMa samples was completed by Genizon and was provided through a grant for genotyping services to S. V. F. The PUWMa consortium represents a Pfizer-funded collaboration among the University of California Los Angeles, Washington University and Massachussetts General Hospital. We thank M. C. O'Donovan, M. Gill, M. J. Owen, P. A. Holmans, A. Thapar, B. M. Neale and A. Miranda for contributing DNA samples and phenotypes to the study and for editing the manuscript. We thank G. DePalma, T. Topner, A. Guiney and H. Zhang for providing samples for the qRT-PCR CNV validation.The study was supported by an Institutional Development Award to the Center for Applied Genomics from CHOP (H. H.), which funded all of the discovery genome-wide genotyping for this study. This work was additionally supported in part by NIH grant K23MH066275 (J. E.), University of Pennsylvania National Center for Research Resources Clinical and Translational Science Awards grant UL1-RR-024134 (J. E.), by a Research Development Award from the Cotswold Foundation (H. H. and S. F. A. G.) and by US Department of Health and Human Services grant 1RC2MH089924 (H. H.). N. T., T. S. and J. D. B. received support from the Seaver Foundation and a Conte Center for Neuroscience of Mental Disorders grant from the NIMH (P50MH066392).Sample and phenotype data collection of parts of the IMAGE II cohort was supported by the Deutsche Forschungsgemeinschaft (KFO 125, SFB 581 and SFB TRR 58 to K.-P.L. and A. Reif, ME 1923/5-1 and ME 1923/5-3 to C.M.F. and J.M.) and the Bundesministerium fur Bildung und Forschung (BMBF 01GV0605 to K.-P.L.). 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PD JAN PY 2012 VL 44 IS 1 BP 78 EP U113 DI 10.1038/ng.1013 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA 870JA UT WOS:000298664000018 PM 22138692 ER PT S AU Patterson, S Smith, V Jelen, M AF Patterson, Stephanie Smith, Veronica Jelen, Michaela BE Ahmad, SI TI AUTISM SPECTRUM DISORDERS: Information for Pediatricians Supporting Families of Young Children on the Spectrum SO NEURODEGENERATIVE DISEASES SE Advances in Experimental Medicine and Biology LA English DT Article; Book Chapter ID COMMUNICATION DEVELOPMENT; JOINT ATTENTION; 2ND YEAR; INTERVENTION; DIAGNOSIS; BEHAVIORS; PARENTS; STRESS; IDENTIFICATION; PREDICTORS AB Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder affecting in US 1 in 110 individuals.(1) As increasingly younger children are receiving ASD diagnoses, many pediatricians are now faced with the unique needs of parents and other caregivers of newly diagnosed toddlers and young children. 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PY 2012 VL 724 BP 91 EP 98 D2 10.1007/978-1-4614-0653-2 PG 8 WC Medicine, Research & Experimental; Clinical Neurology; Neurosciences SC Research & Experimental Medicine; Neurosciences & Neurology GA BA2XJ UT WOS:000333978900009 PM 22411236 ER PT J AU Bakhtiari, R Zurcher, NR Rogier, O Russo, B Hippolyte, L Granziera, C Araabi, BN Ahmadabadi, MN Hadjikhani, N AF Bakhtiari, Reyhaneh Zuercher, Nicole R. Rogier, Ophelie Russo, Britt Hippolyte, Loyse Granziera, Cristina Araabi, Babak Nadjar Ahmadabadi, Majid Nili Hadjikhani, Nouchine TI Differences in white matter reflect atypical developmental trajectory in autism: A Tract-based Spatial Statistics study SO NEUROIMAGE-CLINICAL LA English DT Article DE Diffusion Tensor Imaging; Autism spectrum disorder; Brain connectivity; Fractional anisotropy; Brain development; Brain maturation AB Autism is a neurodevelopmental disorder in which white matter (WM) maturation is affected. We assessed WM integrity in 16 adolescents and 14 adults with high-functioning autism spectrum disorder (ASD) and in matched neurotypical controls (NT) using diffusion weighted imaging and Tract-based Spatial Statistics. Decreased fractional anisotropy (FA) was observed in adolescents with ASD in tracts involved in emotional face processing, language, and executive functioning, including the inferior fronto-occipital fasciculus and the inferior and superior longitudinal fasciculi. Remarkably, no differences in FA were observed between ASD and NT adults. We evaluated the effect of age on WM development across the entire age range. Positive correlations between FA values and age were observed in the right inferior fronto-occipital fasciculus, the left superior longitudinal fasciculus, the corpus callosum, and the cortical spinal tract of ASD participants, but not in NT participants. Our data underscore the dynamic nature of brain development in ASD, showing the presence of an atypical process of WM maturation, that appears to normalize over time and could be at the basis of behavioral improvements often observed in high-functioning autism. (C) 2012 The Authors. Published by Elsevier Inc. Open access under CC BY-NC-ND license. C1 [Bakhtiari, Reyhaneh; Araabi, Babak Nadjar; Ahmadabadi, Majid Nili] Univ Tehran, Coll Engn, Sch Elect & Comp Engn, Control & Intelligent Proc Ctr Excellence, Tehran, Iran. [Bakhtiari, Reyhaneh; Araabi, Babak Nadjar; Ahmadabadi, Majid Nili] Inst Res Fundamental Sci IPM, Dept Cognit Sci, Tehran, Iran. [Bakhtiari, Reyhaneh; Zuercher, Nicole R.; Rogier, Ophelie; Russo, Britt; Hippolyte, Loyse; Granziera, Cristina; Hadjikhani, Nouchine] Ecole Polytech Fed Lausanne, Brain Mind Inst, Lausanne, Switzerland. [Hadjikhani, Nouchine] Harvard Univ, Massachusetts Gen Hosp, Athinoula A Martinos Ctr Biomed Imaging, Sch Med, Charlestown, MA USA. RP Hadjikhani, N (reprint author), MGH HMS HST Athinoula A Martinos Ctr Biomed Imagi, 149 13th St, Charlestown, MA 02129 USA. EM nouchine@nmr.mgh.harvard.edu FU Swiss National Foundation [PP00P3-130191/PPOOB-110741]; Centre d'Imagerie BioMedicale (CIBM) of the University of Lausanne (UNIL); Swiss Federal Institute of Technology Lausanne (EPFL); University of Geneva (UniGe); Centre Hospitalier Universitaire Vaudois (CHUV); Hopitaux Universitaires de Geneve (HUG); Leenaards; Jeantet Foundations FX We thank K. Metrailler for her support in participants' recruitment, C. Burget for her administrative assistance, and A. Lissot for his help with data analysis and technical support. Funding: This work was supported by the Swiss National Foundation grant #PP00P3-130191/PPOOB-110741 to NH, and by the Centre d'Imagerie BioMedicale (CIBM) of the University of Lausanne (UNIL), the Swiss Federal Institute of Technology Lausanne (EPFL), the University of Geneva (UniGe), the Centre Hospitalier Universitaire Vaudois (CHUV), the Hopitaux Universitaires de Geneve (HUG) and the Leenaards and the Jeantet Foundations. 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PY 2012 VL 1 IS 1 BP 48 EP 56 DI 10.1016/j.nicl.2012.09.001 PG 9 WC Neuroimaging SC Neurosciences & Neurology GA V37LG UT WOS:000209276700006 PM 24179736 ER PT J AU Smith, JM Xu, J Powell, EM AF Smith, Jacob M. Xu, Jennifer Powell, Elizabeth M. TI Age dependent forebrain structural changes in mice deficient in the autism associated gene Met tyrosine kinase SO NEUROIMAGE-CLINICAL LA English DT Article DE Met tyrosine kinase; MRI; Autism; Frontal cortex; Mouse; Corpus callosum AB The MET tyrosine kinase has been identified as a susceptibility gene in patients with autism spectrum disorders. MET is expressed in the forebrain during prenatal and postnatal development. After birth, MET participates in dendritic outgrowth and circuit formation. Alterations in neuronal development, particularly in the cerebral cortex, may contribute to the pathology of developmental disorders, including autism. Patients with autism can exhibit abnormal cortical volumes and head circumferences. Wetested the hypothesis that impaired Met signaling during development alters forebrain structure. We have utilized a conditional mutant mouse line which expresses a kinase-dead Met restricted to the cerebral cortex and hippocampal structures. In these mice, we have used magnetic resonance imaging (MRI) to analyze the structure of the cerebral cortex and related structures across postnatal development. We found that the rostral cortex, caudal hippocampus, dorsal striatum, thalamus, and corpus callosum were all larger in adult, but not juvenile, mutant mice relative to control mice. The specificity of the changes suggests that aberrant expansion of the forebrain is consistent with continued axonal and dendritic growth, potentially leading to improper circuit formation and maintenance. (C) 2012 The Authors. Published by Elsevier Inc. Open access under CC BY-NC-ND license. 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EM luca.ronconi05@gmail.com RI Facoetti, Andrea/C-2876-2009 NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2012 VL 41 SU S MA 47 BP 134 EP 135 PG 2 WC Psychology; Psychology, Experimental SC Psychology GA V31WA UT WOS:000208912500421 ER PT J AU Simmons, D Robertson, A AF Simmons, D. Robertson, A. TI Visual symptoms in children and adults with autism spectrum disorder SO PERCEPTION LA English DT Meeting Abstract C1 [Simmons, D.; Robertson, A.] Univ Glasgow, Glasgow G12 8QQ, Lanark, Scotland. EM David.Simmons@glasgow.ac.uk RI Simmons, David/A-4916-2012 NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2012 VL 41 SU S MA 63 BP 139 EP 139 PG 1 WC Psychology; Psychology, Experimental SC Psychology GA V31WA UT WOS:000208912500437 ER PT J AU Hudson, M Jellema, T AF Hudson, M. Jellema, T. TI Anticipation of action intentions in autism spectrum disorder SO PERCEPTION LA English DT Meeting Abstract C1 [Hudson, M.] Univ Norte, Atlantico, Colombia. [Jellema, T.] Univ Hull, Kingston Upon Hull HU6 7RX, N Humberside, England. EM T.Jellema@hull.ac.uk NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2012 VL 41 SU S MA 94 BP 149 EP 149 PG 1 WC Psychology; Psychology, Experimental SC Psychology GA V31WA UT WOS:000208912500468 ER PT J AU Fadda, R Doneddu, G Congiu, S Salvago, A Frigo, G Striano, T AF Fadda, R. Doneddu, G. Congiu, S. Salvago, A. Frigo, G. Striano, T. TI Static gaze direction detection in children with autism: a developmental perspective SO PERCEPTION LA English DT Meeting Abstract C1 [Fadda, R.] Univ Sheffield, Dept Psychol, Sheffield S10 2TN, S Yorkshire, England. [Striano, T.] CUNY Hunter Coll, New York, NY 10021 USA. EM tstriano@hunter.cuny.edu NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2012 VL 41 SU S MA 145 BP 164 EP 165 PG 2 WC Psychology; Psychology, Experimental SC Psychology GA V31WA UT WOS:000208912500519 ER PT J AU Fiorentini, C Gray, L Rhodes, G Jeffery, L Pellicano, E AF Fiorentini, C. Gray, L. Rhodes, G. Jeffery, L. Pellicano, E. TI Reduced face identity aftereffects in relatives of children with autism SO PERCEPTION LA English DT Meeting Abstract C1 [Fiorentini, C.] UCL, Inst Child Hlth, London WC1E 6BT, England. [Fiorentini, C.; Rhodes, G.; Jeffery, L.; Pellicano, E.] Univ Western Australia, Sch Psychol, ARC Ctr Excellence Cognit & Its Disorders, Nedlands, WA 6009, Australia. [Gray, L.] Univ London, Inst Educ, London WC1E 7HU, England. [Pellicano, E.] Univ London, Ctr Res Autism & Educ, London WC1E 7HU, England. EM fiorentinichiara@gmail.com NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2012 VL 41 SU S MA 5 BP 177 EP 177 PG 1 WC Psychology; Psychology, Experimental SC Psychology GA V31WA UT WOS:000208912500558 ER PT J AU Tavares, P Mouga, S Castelo-Branco, M AF Tavares, P. Mouga, S. Castelo-Branco, M. TI Electroencephalographic evidence of normal inversion effect even with impaired holistic processing in high-functioning adults with autism SO PERCEPTION LA English DT Meeting Abstract C1 [Tavares, P.; Mouga, S.; Castelo-Branco, M.] IBILI, Coimbra, Portugal. EM pmtavares@fmed.uc.pt NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2012 VL 41 SU S MA 52 BP 246 EP 247 PG 2 WC Psychology; Psychology, Experimental SC Psychology GA V31WA UT WOS:000208912500778 ER PT J AU Kuhlthau, KA Payakachat, N Delahaye, J Pyne, J Kovacs, E Mick, J AF Kuhlthau, Karen A. Payakachat, Nalin Delahaye, Jennifer Pyne, Jeff Kovacs, Erica Mick, John TI Measuring quality of life for caregivers of children with Autism Spectrum Disorder for use in cost-effectiveness evaluations: A mixed method approach SO QUALITY OF LIFE RESEARCH LA English DT Meeting Abstract C1 [Kuhlthau, Karen A.; Delahaye, Jennifer] Ctr Child & Adolescent Hlth Policy, Boston, MA USA. [Payakachat, Nalin] Div Pharmaceut Evaluat & Policy, Little Rock, AR USA. [Pyne, Jeff] Ctr Mental Hlth Outcomes Res, North Little Rock, AR USA. [Kovacs, Erica] Columbia Dev Neuropsychiat Program, New York, NY USA. [Mick, John] Tilford Hlth Policy & Management, Little Rock, AR USA. NR 0 TC 0 Z9 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 0962-9343 EI 1573-2649 J9 QUAL LIFE RES JI Qual. Life Res. PD JAN PY 2012 VL 20 SU 1 MA 81 BP 16 EP 16 PG 1 WC Health Care Sciences & Services; Health Policy & Services; Public, Environmental & Occupational Health SC Health Care Sciences & Services; Public, Environmental & Occupational Health GA V38QV UT WOS:000209358800035 ER PT J AU Chen, FS Johnson, SC AF Chen, Frances S. Johnson, Susan C. TI An Oxytocin Receptor Gene Variant Predicts Attachment Anxiety in Females and Autism-Spectrum Traits in Males SO SOCIAL PSYCHOLOGICAL AND PERSONALITY SCIENCE LA English DT Article DE oxytocin; molecular genetics; attachment; broader autism phenotype; individual differences AB A molecular genetic approach was used to investigate the relationship between common variants of the oxytocin receptor (OXTR) gene and self-reported social functioning in healthy adults. Females with at least one copy of the A allele at OXTR rs2254298 reported greater attachment anxiety than females with two copies of the G allele. Males with at least one copy of the A allele at OXTR rs2254298 reported more autism-associated traits than males with two copies of the G allele. These results support the growing evidence that naturally occurring differences in the oxytocin system contribute to individual differences in social functioning in healthy adults. The authors discuss potential avenues by which sex may moderate the relationship between oxytocin and human social behavior. C1 [Chen, Frances S.; Johnson, Susan C.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA. RP Chen, FS (reprint author), Dept Psychol, Stefan Meier Str 8, D-79104 Freiburg, Germany. EM frances.chen@psychologie.uni-freiburg.de CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Apicella CL, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0011153 Bakermans-Kranenburg M. J., 2008, SOCIAL COGNITIVE AFF, V3, P89 Baron-Cohen S, 2001, J AUTISM DEV DISORD, V31, P5, DOI 10.1023/A:1005653411471 Brennan K. A., 1998, ATTACHMENT THEORY CL, P46 Buchheim A, 2009, PSYCHONEUROENDOCRINO, V34, P1417, DOI 10.1016/j.psyneuen.2009.04.002 Chapman T. F., 1995, SOCIAL PHOBIA DIAGNO, P21 Chen F. 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Psychol. Personal Sci. PD JAN PY 2012 VL 3 IS 1 BP 93 EP 99 DI 10.1177/1948550611410325 PG 7 WC Psychology, Social SC Psychology GA V32FB UT WOS:000208936000013 ER PT S AU Loesch, D Hagerman, R AF Loesch, Danuta Hagerman, Randi BE Hannan, AJ TI UNSTABLE MUTATIONS IN THE FMR1 GENE AND THE PHENOTYPES SO TANDEM REPEAT POLYMORPHISMS: GENETIC PLASTICITY, NEURAL DIVERSITY AND DISEASE SE Advances in Experimental Medicine and Biology LA English DT Article; Book Chapter ID FRAGILE-X-SYNDROME; PREMATURE OVARIAN FAILURE; TREMOR/ATAXIA SYNDROME FXTAS; FEMALE PREMUTATION CARRIERS; MENTAL-RETARDATION PROTEIN; MULTIPLE SYSTEM ATROPHY; TREMOR-ATAXIA-SYNDROME; CGG-REPEAT LENGTH; AUTISM SPECTRUM DISORDERS; LINEAR-REGRESSION MODELS AB Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable (dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMRI (Fragile X Mental Retardation-) gene. These expansions, termed full mutations, normally silence this gene's promoter through methylation, leading to a gross deficit of the Fragile X Mental Retardation Protein (FMRP) that is essential for normal brain development. Rare individuals with the expansion but with an unmethylated promoter (and thus, FMRP production), present a much less severe form of FXS. However, a unique feature of the relationship between the different sizes of COG expanded tract and phenotypic changes is that smaller expansions (<200) generate a series of different clinical manifestations and/or neuropsychological changes. The major part of this chapter is devoted to those FMR1 alleles with small (55-200) COG expansions, termed 'premutations', which have the potential for generating the full mutation alleles on mother-offspring transmission, on the one hand, and are associated with some phenotypic changes, on the other. Thus, the role of several factors known to determine the rate of COG expansion in the premutation alleles is discussed first. Then, an account of various neurodevelopmental, cognitive, behavioural and physical changes reported in carriers of these small expansions is given, and possible association of these conditions with a toxicity of the elevated FAIR.I gene's transcript (mRNA) is discussed. The next two sections are devoted to major and well defined clinical conditions associated with the premutation alleles. The first one is the late onset neurodegenerative disorder termed fragile X-associated tremor ataxia syndrome (FXTAS). The wide range of clinical and neuropsycholo2ical manifestations of this syndrome, and their relevance to elevated levels of the FMR1 raRNA, are described. Another distinct disorder linked to the COG repeat expansions within the premutation range is fragile X-associated primary ovarian insufficiency (FXPOI) in females, and an account of the spectrum of manifestations of this disorder, together with the latest findings suggesting an early onset of the ovarian changes, is given. In the following section, the most recent findings concerning the possible contribution of FMR1 'grey zone' alleles (those with the smallest repeat expansions overlapping with the nornial range i.e., 41-54 COGs), to the psychological and clinical manifestations, already associated with premutation alleles, are discussed. Special emphasis has been placed on the possibility that the modest elevation of 'toxic' mRNA in the carriers of grey zone alleles may present an additional risk for some neurodegenerative diseases, such as those associated with parkinsonism, by synergizing with either other susceptibility genes or environmental poisons. The present status of the treatment of fragile X-related disorders, especially FXS, is presented in the last section of this chapter. Pharmacological interventions in this syndrome have recently extended beyond stimulants and ant ipsychotic medications, and the latest trials involving a group of GluR5 antagonists aim to ascertain if these substances have the potential to reverse some of the neurobiological abnonnalities of FXS. C1 [Loesch, Danuta] La Trobe Univ, Dept Psychol, Melbourne, Vic, Australia. [Hagerman, Randi] Univ Calif Davis Med Ctr, Dept Pediat, MIND Inst, Sacramento, CA USA. RP Loesch, D (reprint author), La Trobe Univ, Dept Psychol, Melbourne, Vic, Australia. 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PY 2012 VL 769 BP 78 EP 114 D2 10.1007/978-1-4614-5434-2 PG 37 WC Medicine, Research & Experimental; Neurosciences SC Research & Experimental Medicine; Neurosciences & Neurology GA BA2RW UT WOS:000333841400007 PM 23560306 ER PT J AU Lundvall, M Rajaei, S Erlandson, A Kyllerman, M AF Lundvall, Mikael Rajaei, Saideh Erlandson, Anna Kyllerman, Marten TI Aetiology of severe mental retardation and further genetic analysis by high-resolution microarray in a population-based series of 6-to 17-year-old children SO ACTA PAEDIATRICA LA English DT Article DE Aetiology; Clinical genetic studies; CNV; Severe mental retardation ID NORTHERN SWEDISH COUNTY; ARRAY-CGH; INTELLECTUAL DISABILITY; CHROMOSOMAL IMBALANCES; CONGENITAL-ANOMALIES; DELETION SYNDROME; LONG ARM; INDIVIDUALS; MILD; EPIDEMIOLOGY AB Aim: To investigate the prevalence, co-morbidities and aetiologies of severe mental retardation (SMR) in a cohort of Swedish children and to further penetrate aetiologies in the group with undetermined causes by application of updated clinical-genetic methods. Methods: The study was population-based and included children living in the County of Halland in western Sweden in 2004 (born 1987-1998; 46 000 children). Patients were identified through habilitation centres, paediatric clinics and school health services. Patients with unclear prenatal aetiology were investigated with single nucleotide polymorphism (SNP)-array. Results: Severe mental retardation was identified in 133 children from 132 families, corresponding to a prevalence of 2.9 per 1000 children. There were more males than females (90: 43). The aetiology was prenatal in 82 (62%), perinatal in 14 (10%) and postnatal in 8 (6%). In 29 (22%) children, mainly males with autism, the cause could not be related to the time of birth. In the prenatal group, genetic causes dominated, but still 23 children remained undiagnosed; in 5/19 of these patients, a diagnosis could be made after SNP-array analysis. One or more associated neurological handicaps were found in more than half of the children. Conclusion: Prevalence and co-morbidity were similar to previous Scandinavian studies. High-resolution chromosomal micro-array techniques are valuable diagnostic tools, reducing the number of patients with unexplained SMR. C1 [Lundvall, Mikael] Halland Cty Hosp, Dept Paediat, Halmstad, Sweden. [Rajaei, Saideh; Erlandson, Anna] Univ Gothenburg, Sahlgrenska Acad, Dept Clin Genet, Gothenburg, Sweden. [Kyllerman, Marten] Sahlgrens Univ Hosp E, Queen Silvia Childrens Hosp, Dept Paediat, Gothenburg, Sweden. RP Lundvall, M (reprint author), B68 Karolinska Univ Hosp, Astrid Lindgren Childrens Hosp Huddinge, S-14186 Huddinge, Sweden. EM mikael.lundvall@karolinska.se FU County Council of Halland; Linnea and Josef Carlsson foundation; Savstaholm foundation; ethics committee at the University of Gothenburg FX We are grateful to the patients and their parents for their participation. This work was supported by grants from the County Council of Halland the Linnea and Josef Carlsson foundation and the Savstaholm foundation.This study was approved by the ethics committee at the University of Gothenburg. 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PD JAN PY 2012 VL 101 IS 1 BP 85 EP 91 DI 10.1111/j.1651-2227.2011.02417.x PG 7 WC Pediatrics SC Pediatrics GA 856HQ UT WOS:000297630000027 PM 21767312 ER PT J AU Pasini, A D'Agati, E Pitzianti, M Casarelli, L Curatolo, P AF Pasini, Augusto D'Agati, Elisa Pitzianti, Mariabernarda Casarelli, Livia Curatolo, Paolo TI Motor examination in children with Attention-Deficit/Hyperactivity Disorder and Asperger Syndrome SO ACTA PAEDIATRICA LA English DT Article DE Attention-Deficit Hyperactivity Disorder; Asperger Syndrome; Motor skills; Physical and neurological assessment of subtle signs ID HIGH-FUNCTIONING AUTISM; SUBTLE SIGNS; RELIABILITY; ADHD; AGE; CEREBELLUM; SCHEDULE; OVERFLOW; BEHAVIOR; VERSION AB Aim: Evaluating whether motor skills could differentiate drug-naive subjects with two neurodevelopmental disorders: Attention-Deficit Hyperactivity Disorder (ADHD) and Asperger Syndrome (AS). Methods: Thirty-six boys (12 with ADHD, 12 with AS and 12 with typical development) aged 8-12 were evaluated using the Physical and Neurological Examination for Subtle Signs. Three primary outcome variables were obtained as follows: (i) total speed of timed activities, (ii) total overflow and (iii) total dysrhythmia. Results: Children with AS performed more slowly than those with ADHD and healthy children independently of age and IQ. Total dysrhythmia differentiates ADHD and AS children from controls. Conclusion: Dysfunction of the fronto-striatal-cerebellar networks related to motor control could be the physiopathological basis of the reported findings. C1 [Pasini, Augusto; D'Agati, Elisa; Pitzianti, Mariabernarda; Casarelli, Livia; Curatolo, Paolo] Univ Roma Tor Vergata, Dept Neurosci, Unit Child Neurol & Psychiat, I-00193 Rome, Italy. RP Pasini, A (reprint author), Univ Roma Tor Vergata, Dept Neurosci, Unit Child Neurol & Psychiat, Via Alberico 2 35, I-00193 Rome, Italy. EM pasini@uniroma2.it CR (APA) APA, 2000, DIAGN STAT MAN MENT BRIEBER N, 2007, J CHILD PSYCHOL PSYC, V48, P1251 CAYLAK EA, 2007, AM J MED GENET B, V144 Cole WR, 2008, NEUROLOGY, V71, P1514, DOI 10.1212/01.wnl.0000334275.57734.5f Conners CK, 2007, CONNERS PARENTS RATI Conners CK, 2007, CONNERS TEACHERS RAT Corbett BA, 2009, PSYCHIAT RES, V166, P210, DOI 10.1016/j.psychres.2008.02.005 DENCKLA MB, 1985, PSYCHOPHARMACOL BULL, V21, P773 Diamond A, 2000, CHILD DEV, V71, P44, DOI 10.1111/1467-8624.00117 DuPaul GJ, 1998, ADHD RATING SCALE 4 GILLBERG IC, 1989, J CHILD PSYCHOL PSYC, V30, P631, DOI 10.1111/j.1469-7610.1989.tb00275.x HOLDEN EW, 1982, J ABNORM CHILD PSYCH, V10, P163, DOI 10.1007/BF00915938 Hoy KE, 2004, BRAIN RES REV, V46, P315, DOI 10.1016/j.brainresrev.2004.07.013 Jansiewicz EM, 2006, J AUTISM DEV DISORD, V36, P613, DOI 10.1007/s10803-006-0109-y Kadesjo B, 1999, J AM ACAD CHILD PSY, V38, P820, DOI 10.1097/00004583-199907000-00011 Kaufman J, 1997, J AM ACAD CHILD PSY, V36, P980, DOI 10.1097/00004583-199707000-00021 Larson JCG, 2007, DEV NEUROPSYCHOL, V32, P543 LORD C, 1989, J AUTISM DEV DISORD, V19, P185, DOI 10.1007/BF02211841 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 MARTIN R, 2005, DEV MED CHILD NEUROL, V52, P188 Mostofsky SH, 2003, PERCEPT MOTOR SKILL, V97, P1315, DOI 10.2466/PMS.97.8.1315-1331 Nayate A, 2005, BRAIN RES BULL, V67, P327, DOI 10.1016/j.brainresbull.2005.07.011 Ozonoff S, 1999, J AUTISM DEV DISORD, V29, P171, DOI 10.1023/A:1023052913110 Pasini A, 2009, WORLD J BIOL PSYCHIA, V10, P495, DOI [10.1080/15622970902789148, 10.3109/15622970902789148] Rinehart NJ, 2001, J AUTISM DEV DISORD, V31, P79, DOI 10.1023/A:1005617831035 Semrud-Clikeman M, 2010, J AUTISM DEV DISORD, V40, P1017, DOI 10.1007/s10803-010-0951-9 Semrud-Clikeman M, 2010, J ABNORM CHILD PSYCH, V38, P509, DOI 10.1007/s10802-009-9380-7 Semrud-Clikeman M, 2010, DEV NEUROPSYCHOL, V35, P582, DOI [10.1080/87565641.2010.494747, 10.1080/875656412010494747] VITIELLO B, 1989, J AM ACAD CHILD PSY, V28, P749, DOI 10.1097/00004583-198909000-00017 Watanabe K, 2010, EXP BRAIN RES, V203, P233, DOI 10.1007/s00221-010-2217-3 Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd Yerys BE, 2009, AUTISM RES, V2, P322, DOI 10.1002/aur.103 NR 32 TC 4 Z9 4 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0803-5253 J9 ACTA PAEDIATR JI Acta Paediatr. PD JAN PY 2012 VL 101 IS 1 BP E15 EP E18 DI 10.1111/j.1651-2227.2011.02436.x PG 4 WC Pediatrics SC Pediatrics GA 856HQ UT WOS:000297630000004 PM 21824190 ER PT J AU Abdallah, MW Larsen, N Grove, J Norgaard-Pedersen, B Thorsen, P Mortensen, EL Hougaard, DM AF Abdallah, Morsi W. Larsen, Nanna Grove, Jakob Norgaard-Pedersen, Bent Thorsen, Poul Mortensen, Erik L. Hougaard, David M. TI Amniotic fluid chemokines and autism spectrum disorders: An exploratory study utilizing a Danish Historic Birth Cohort SO BRAIN BEHAVIOR AND IMMUNITY LA English DT Article DE Autistic disorder; Chemokine; MCP-1; Amniotic fluid; Population register ID MONOCYTE CHEMOATTRACTANT PROTEIN-1; NERVOUS-SYSTEM; SCHIZOPHRENIA; EXPRESSION; INFECTION; BRAIN; RISK; PREVALENCE; CYTOKINES; REGISTER AB Introduction: Elevated levels of chemokines have been reported in plasma and brain tissue of individuals with Autism Spectrum Disorders (ASD). The aim of this study was to examine chemokine levels in amniotic fluid (AF) samples of individuals diagnosed with ASD and their controls. Material and methods: A Danish Historic Birth Cohort (HBC) kept at Statens Serum Institute, Copenhagen was utilized. Using data from Danish nation-wide health registers, a case-control study design of 414 cases and 820 controls was adopted. Levels of MCP-1, MIP-1 alpha and RANTES were analyzed using Luminex xMAP technology. Case-control differences were assessed as dichotomized at below the 10th percentile or above the 90th percentile cut-off points derived from the control biomarker distributions (logistic regression) or continuous measures (tobit regression). Results and conclusion: AF volume for 331 cases and 698 controls was sufficient for Luminex analysis. Including all individuals in the cohort yielded no significant differences in chemokine levels in cases versus controls. Logistic regression analyses, performed on individuals diagnosed using ICD-10 only, showed increased risk for ASD with elevated MCP-1 (elevated 90th percentile adjusted OR: 2.32 195% Cl: 1.17-4.61]) compared to controls. An increased risk for infantile autism with elevated MCP-1 was also found (adjusted OR: 2.28 [95% CI: 1.16-4.48]). Elevated levels of MCP-1 may decipher an etiologic immunologic dysfunction or play rather an indirect role in the pathophysiology of ASD. Further studies to confirm its role and to identify the potential pathways through which MCP-1 may contribute to the development of ASD are necessary. (C) 2011 Elsevier Inc. All rights reserved. C1 [Abdallah, Morsi W.] Univ Copenhagen, Unit Med Psychol, Inst Publ Hlth, DK-1014 Copenhagen K, Denmark. [Abdallah, Morsi W.; Mortensen, Erik L.] Univ Copenhagen, Ctr Hlth Aging, DK-1014 Copenhagen K, Denmark. [Abdallah, Morsi W.] Aarhus Univ, Sch Publ Hlth, Dept Epidemiol, Aarhus, Denmark. [Abdallah, Morsi W.; Larsen, Nanna; Norgaard-Pedersen, Bent; Hougaard, David M.] Statens Serum Inst, Dept Clin Biochem & Immunol, DK-2300 Copenhagen, Denmark. [Grove, Jakob] Aarhus Univ, Fac Hlth Sci, Dept Biomed, Aarhus, Denmark. [Grove, Jakob] Aarhus Univ, Fac Hlth Sci, Bioinformat Res Ctr BiRC, Aarhus, Denmark. [Thorsen, Poul] Lillebaelt Hosp, Dept Obstet & Gynaecol, Kolding, Denmark. RP Abdallah, MW (reprint author), Univ Copenhagen, Unit Med Psychol, Inst Publ Hlth, Oster Farimagsgade 5B,CSS 15-0-19,Postboks 2099, DK-1014 Copenhagen K, Denmark. EM mab@soci.au.dk FU The Danish Medical Research Foundation; The Danish Ministry of the Interior and Health [271-05-0523/09-060179]; Aarhus University Faculty of Health Sciences, Aarhus, Denmark; Statens Serum Institute, Department of Clinical Biochemistry and Immunology, Copenhagen, Denmark [494028] FX The authors thank Lasse S. Jonsson from Statens Serum Institute (SSI) and Maria Pryds for their assistance in data retrieval and Vibeke Munk from Copenhagen University for her administrative assistance. We also thank SSI Luminex Lab technical staff for their time and efforts. The Danish Historic Birth Cohort was established at Statens Serum Institute, Copenhagen with a grant from The Danish Medical Research Foundation and The Danish Ministry of the Interior and Health (Project no. 271-05-0523/09-060179). This study is funded by Aarhus University Faculty of Health Sciences, Aarhus, Denmark and Statens Serum Institute, Department of Clinical Biochemistry and Immunology, Copenhagen, Denmark (Project Title: Intrauterine Exposures and Childhood Psychiatric Disorders, Project ID: 494028). 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Recombinant rat NL1 protein, fused with signal sequence derived from human Azurocidin gene (AzSP), was secreted into the culture medium and the optimum harvest time for NL1 protein before the lysis of infected cells was determined through the release of cytosolic EGFP. The NL1 protein (0.129 +/- 0.013 mg/8 x 10(7) High Five cells; similar to 96% purity by metal affinity chromatography) was obtained from the supernatant of the recombinant virus-infected insect cells. A novel chip was employed to address whether the recombinant NL1 is functional in axogenesis. The purified rat NL1 promoted and enhanced the growth rate ( 137.07 +/- 9.74 mu m/day) of the axon on NL1/PLL (poly-L-lysine)-coated fine lines on the chip compared to those lines that were coated with PLL alone (105.53 +/- 4.53 mu m/day). These results were confirmed by fluorescence immunocytochemistry and demonstrated that the recombinant protein can be purified by a one-step process using IMAC combined with monitoring of cell lysis by bi-BEVS. This technique along with our novel chip offers a simple, cost-effective and useful platform for understanding the roles of NU protein in neuronal regeneration and synaptic formation studies. (C) 2011 Elsevier Inc. All rights reserved. C1 [Chen, Yu-Jei; Wu, Tzong-Yuan] Chung Yuan Christian Univ, Dept Biosci Technol, Chungli 320, Taiwan. [Chen, Wen-Shuo; Lu, Co-Fan; Wu, Huei-Ing; Chang, Yen-Chung] Natl Tsing Hua Univ, Inst Mol Med, Hsinchu 300, Taiwan. [Villaflores, Oliver B.] Chung Yuan Christian Univ, Dept Chem, Chungli 320, Taiwan. [Teng, Chao-Yi; Chang, Shou-Lin] Natl Tsing Hua Univ, Inst Bioinformat & Struct Biol, Hsinchu 300, Taiwan. [Wu, Tzong-Yuan] Chung Yuan Christian Univ, R&D Ctr Membrane Technol, Chungli 320, Taiwan. 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Purif. PD JAN PY 2012 VL 81 IS 1 BP 18 EP 24 DI 10.1016/j.pep.2011.08.025 PG 7 WC Biochemical Research Methods; Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology GA 853PS UT WOS:000297438800005 PM 21911064 ER PT J AU Granat, T Nordgren, I Rein, G Sonnander, K AF Granat, Tina Nordgren, Ingrid Rein, George Sonnander, Karin TI Group intervention for siblings of children with disabilities: a pilot study in a clinical setting SO DISABILITY AND REHABILITATION LA English DT Article DE group intervention; sibling ID CHRONIC ILLNESS; AUTISM AB Purpose: To study the effectiveness of a group intervention in a clinical setting designed to increase knowledge of disability and improve sibling relationship among siblings of children with disabilities. Method: A self-selected sample of 54 younger and older siblings with typical development (ages 8-12 years) of children with attention deficit hyperactivity disorder (ADHD) (9), Asperger syndrome (7), autistic disorder (13), physical disability (8) and intellectual disability (17) participated in collateral sibling groups. The Sibling Knowledge Interview (SKI) and Sibling Relationship Questionnaire (SRQ) were administered pre- and post-intervention. Results: SKI scores increased (p < 0.001) from pre- to post-intervention when merged diagnostic groups were compared. Comparisons of SRQ pre- and post-intervention scores across diagnostic sibling groups showed significantly different (p < 0.05) score patterns. Conclusions: The results were encouraging and contribute to further development of interventions meeting the needs of siblings of children with disabilities. In view of the limited empirical research on group interventions for siblings of children with disabilities future work is needed to investigate the effectiveness of such interventions. Particular attention should be given to siblings of children with autism and siblings of children with intellectual disability. C1 [Sonnander, Karin] Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75122 Uppsala, Sweden. [Granat, Tina; Nordgren, Ingrid; Rein, George] Uppsala Cty Council, Habilitat & Assist Technol Serv, Uppsala, Sweden. RP Sonnander, K (reprint author), Uppsala Univ, Dept Publ Hlth & Caring Sci, Box 564, SE-75122 Uppsala, Sweden. EM Karin.Sonnander@pubcare.uu.se FU Swedish Inheritance Fund; Uppsala County Council, Sweden FX This project was supported by The Swedish Inheritance Fund and Uppsala County Council, Sweden. 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Rehabil. PY 2012 VL 34 IS 1 BP 69 EP 75 DI 10.3109/09638288.2011.587087 PG 7 WC Rehabilitation SC Rehabilitation GA 851LV UT WOS:000297272600010 PM 21877903 ER PT J AU Brunye, TT Ditman, T Giles, GE Mahoney, CR Kessler, K Taylor, HA AF Brunye, Tad T. Ditman, Tali Giles, Grace E. Mahoney, Caroline R. Kessler, Klaus Taylor, Holly A. TI Gender and autistic personality traits predict perspective-taking ability in typical adults SO PERSONALITY AND INDIVIDUAL DIFFERENCES LA English DT Article DE Perspective-taking; Gender; Personality; Autistic traits; Individual differences ID SPECTRUM QUOTIENT AQ; FUNCTIONING AUTISM; MIND; EMPATHY; DISSOCIATION; CHILDREN; THINK AB Adopting another's visual perspective is exceedingly common and may underlie successful social interaction and empathizing with others. The individual differences responsible for success in perspective-taking, however, remain relatively undiscovered. We assessed whether gender and autistic personality traits in normal college student adults predict the ability to adopt another's visual perspective. In a task differentially recruiting VPT-1 which involves following another's line of sight, and VPT-2 which involves determining how another may perceive an object differently given their unique perspective (VPT-2), we found effects of both gender and autistic personality traits. Specifically, we demonstrate slowed VPT-2 but not VPT-1 performance in males and females with relatively high ASD-characteristic personality traits; this effect, however was markedly stronger in males than females. Results contribute to knowledge regarding ASD-related personality traits in the general population and the individual differences modulating perspective-taking abilities. Published by Elsevier Ltd. C1 [Brunye, Tad T.] US Army NSRDEC, Attn AMSRD NSC WS P, Natick, MA 01760 USA. [Brunye, Tad T.; Ditman, Tali; Giles, Grace E.; Mahoney, Caroline R.; Taylor, Holly A.] Tufts Univ, Dept Psychol, Medford, MA 02155 USA. [Ditman, Tali] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA USA. [Kessler, Klaus] Univ Glasgow, Inst Neurosci & Psychol, Glasgow, Lanark, Scotland. RP Brunye, TT (reprint author), US Army NSRDEC, Attn AMSRD NSC WS P, Kansas St, Natick, MA 01760 USA. 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Individ. Differ. PD JAN PY 2012 VL 52 IS 1 BP 84 EP 88 DI 10.1016/j.paid.2011.09.004 PG 5 WC Psychology, Social SC Psychology GA 850WU UT WOS:000297231100016 ER PT J AU Gebregziabher, M Shotwell, MS Charles, JM Nicholas, JS AF Gebregziabher, Mulugeta Shotwell, Matthew S. Charles, Jane M. Nicholas, Joyce S. TI Comparison of methods for identifying phenotype subgroups using categorical features data with application to autism spectrum disorder SO COMPUTATIONAL STATISTICS & DATA ANALYSIS LA English DT Article DE Autism; Dirichlet process mixture; Latent class model ID LATENT-CLASS ANALYSIS; 2 HIERARCHICAL CLUSTERINGS; MODEL-SELECTION; DISTRIBUTIONS; MIXTURE; CRITERIA; NUMBER; FAMILY; TWIN AB We evaluate the performance of the Dirichlet process mixture (DPM) and the latent class model (LCM) in identifying autism phenotype subgroups based on categorical autism spectrum disorder (ASD) diagnostic features from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Text Revision. A simulation study is designed to mimic the diagnostic features in the ASD dataset in order to evaluate the LCM and DPM methods in this context. Likelihood based information criteria and DPM partitioning are used to identify the best fitting models. The Rand statistic is used to compare the performance of the methods in recovering simulated phenotype subgroups. Our results indicate excellent recovery of the simulated subgroup structure for both methods. The LCM performs slightly better than DPM when the correct number of latent subgroups is selected a priori. The DPM method utilizes a maximum a posteriori (MAP) criterion to estimate the number of classes, and yielded results in fair agreement with the LCM method. Comparison of model fit indices in identifying the best fitting LCM showed that adjusted Bayesian information criteria (ABIC) picks the correct number of classes over 90% of the time. Thus, when diagnostic features are categorical and there is some prior information regarding the number of latent classes, LCM in conjunction with ABIC is preferred. (C) 2011 Elsevier B.V. All rights reserved. C1 [Gebregziabher, Mulugeta; Shotwell, Matthew S.; Charles, Jane M.; Nicholas, Joyce S.] Med Univ S Carolina, Dept Med, Div Biostat & Epidemiol, Charleston, SC 29425 USA. RP Gebregziabher, M (reprint author), Med Univ S Carolina, Dept Med, Div Biostat & Epidemiol, 135 Cannon St,Charleston Suite 303, Charleston, SC 29425 USA. EM gebregz@musc.edu FU MUSC Provost Office FX This work is partially supported by funds from MUSC Provost Office. The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the CDC. CR Akaike H., 1973, 2 INT S INF THEOR, P267 Bandeen-Roche K, 1997, J AM STAT ASSOC, V92, P1375, DOI 10.2307/2965407 BELINGER LJ, 2001, J AUTISM DEV DISORD, V31, P411 BLACKWEL.D, 1973, ANN STAT, V1, P353, DOI 10.1214/aos/1176342372 BOZDOGAN H, 1987, PSYCHOMETRIKA, V52, P345, DOI 10.1007/BF02294361 Centers for Disease Control and Prevention, 2007, MMWR SURVEILL SUMM, V56, P12 Clogg C. 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Biederman, Joseph TI Discriminant and concurrent validity of a simplified DSM-based structured diagnostic instrument for the assessment of autism spectrum disorders in youth and young adults SO BMC PSYCHIATRY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; RECIPROCAL SOCIAL-BEHAVIOR; GENERAL-POPULATION; CHILDREN; TRAITS; RATES; MANIA; PDD AB Background: To evaluate the concurrent and discriminant validity of a brief DSM-based structured diagnostic interview for referred individuals with autism spectrum disorders (ASDs). Methods: To test concurrent validity, we assessed the structured interview's agreement in 123 youth with the expert clinician assessment and the Social Responsiveness Scale (SRS). Discriminant validity was examined using 1563 clinic-referred youth. Results: The structured diagnostic interview and SRS were highly sensitive indicators of the expert clinician assessment. Equally strong was the agreement between the structured interview and SRS. We found evidence for high specificity for the structured interview. Conclusions: A simplified DSM-based ASD structured diagnostic interview could serve as a useful diagnostic aid in the assessment of subjects with ASDs in clinical and research settings. C1 [Joshi, Gagan; Petty, Carter R.; Fried, Ronna; Wozniak, Janet; Micco, Jamie A.; Henin, Aude; Doyle, Robert; Galdo, Maribel; Kotarski, Meghan; Caruso, Janet; Meller, Benjamin; Biederman, Joseph] Massachusetts Gen Hosp, Clin & Res Program Pediat Psychopharmacol, Boston, MA 02114 USA. [Joshi, Gagan; Petty, Carter R.; Fried, Ronna; Wozniak, Janet; Micco, Jamie A.; Henin, Aude; Doyle, Robert; Biederman, Joseph] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA. [Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY USA. RP Joshi, G (reprint author), Massachusetts Gen Hosp, Clin & Res Program Pediat Psychopharmacol, Boston, MA 02114 USA. EM Joshi.Gagan@mgh.harvard.edu FU Norma Fine Pediatric Psychopharmacology Fellowship Fund FX This work was supported in part by a grant to the Alan and Lorraine Bressler Center for study of Autism Spectrum Disorders and the Norma Fine Pediatric Psychopharmacology Fellowship Fund. 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CDK5 (cyclin-dependent kinase 5) and its interacting molecules are involved in neurodevelopment. We performed a family-based association analysis between CDK5, NDEL1, and LIS1 polymorphisms and autism in a Chinese Han population. Our study did not detect a significant association. It indicated that common genetic variations in these genes might not play a role in the genetic predisposition to autism. (C) 2011 Elsevier Ireland Ltd. All rights reserved. C1 [Wang, Lifang; Li, Jun; Jia, Meixiang; Yue, Weihua; Ruan, Yanyan; Lu, Tianlan; Liu, Jing; Zhang, Dai] Peking Univ, Inst Mental Hlth, Beijing 100191, Peoples R China. [Wang, Lifang; Li, Jun; Yue, Weihua; Ruan, Yanyan; Lu, Tianlan; Zhang, Dai] Minist Hlth, Key Lab Mental Hlth, Beijing, Peoples R China. [Zhang, Jishui] Capital Univ Med Sci, Beijing Childrens Hosp, Beijing, Peoples R China. RP Liu, J (reprint author), Peking Univ, Inst Mental Hlth, 51 Hua Yuan Bei Rd, Beijing 100191, Peoples R China. EM ljyuch@yahoo.cn; daizhang@bjmu.edu.cn FU National Basic Research Program of China (973 program) [2010CB833905]; National Natural Science Foundation of China [30870897, 81071110]; Beijing Natural Science Foundation [7081005] FX We thank all the patients and their families for their support and participation in this study. This work was supported by National Basic Research Program of China (973 program 2010CB833905), National Natural Science Foundation of China (30870897, 81071110), and Beijing Natural Science Foundation (7081005). 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Gordon Anagnostou, Evdokia Wasserman, Stacey Pepa, Lauren Kolevzon, Alexander Abi-Dargham, Anissa Laruelle, Marc Hollander, Eric TI The 5-HT2A receptor and serotonin transporter in Asperger's Disorder: A PET study with [C-11]MDL 100907 and [C-11]DASB SO PSYCHIATRY RESEARCH-NEUROIMAGING LA English DT Article DE Autism spectrum disorders; 5-HT2A receptor; Asperger's Disorder; Positron emission tomography; Serotonin transporter; Serotonin ID POSITRON-EMISSION-TOMOGRAPHY; AUTISTIC DISORDER; BRAIN-SEROTONIN; HEALTHY HUMANS; DOPAMINE; BINDING; ADULTS; SPECT; REPRODUCIBILITY; RADIOLIGANDS AB Evidence from biochemical, imaging, and treatment studies suggest abnormalities of the serotonin system in autism spectrum disorders, in particular in frontolimbic areas of the brain. We used the radiotracers [C-11]MDL 100907 and [C-11]DASB to characterize the 5-HT2A receptor and serotonin transporter in Asperger's Disorder. Seventeen individuals with Asperger's Disorder (age = 34.3 +/- 11.1 years) and 17 healthy controls (age = 33.0 +/- 9.6 years) were scanned with [C-11]MDL 100907. Of the 17 patients, eight (age.= 29.7 +/- 7.0 years) were also scanned with [C-11]DASB, as were eight healthy controls (age= 28.7 +/- 7.0 years). Patients with Asperger's Disorder and healthy control subjects were matched for age, gender, and ethnicity, and all had normal intelligence. Metabolite-corrected arterial plasma inputs were collected and data analyzed by two-tissue compartment modeling. The primary outcome measure was regional binding potential BPND. Neither regional [C-11]MDL 100907 BPND nor [C-11]DASB BPND was statistically different between the Aspeiger's and healthy subjects. This study failed to find significant alterations in binding parameters of 5-HT2A receptors and serotonin transporters in adult subjects with Asperger's Disorder. (C) 2011 Elsevier Ireland Ltd. All rights reserved. C1 [Girgis, Ragy R.] New York State Psychiat Inst & Hosp, Unit 31, New York, NY 10032 USA. [Girgis, Ragy R.; Slifstein, Mark; Xu, Xiaoyan; Abi-Dargham, Anissa; Laruelle, Marc] Columbia Univ, Dept Psychiat, New York, NY USA. [Frankle, W. Gordon] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA USA. [Frankle, W. Gordon] Univ Pittsburgh, Dept Radiol, Pittsburgh, PA 15260 USA. [Anagnostou, Evdokia] Univ Toronto, Dept Pediat, Toronto, ON, Canada. [Wasserman, Stacey; Pepa, Lauren; Kolevzon, Alexander] Mt Sinai Sch Med, Dept Psychiat, Seaver Autism Ctr Res & Treatment, New York, NY USA. [Laruelle, Marc] Univ London Imperial Coll Sci Technol & Med, Dept Neurosci, London, England. [Hollander, Eric] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Psychiat, Univ Hosp, Bronx, NY USA. RP Girgis, RR (reprint author), New York State Psychiat Inst & Hosp, Unit 31, 1051 Riverside Dr, New York, NY 10032 USA. EM rg2290@columbia.edu FU Seaver Foundation; National Institute of Mental Health [U54 MH 066673] FX This work was supported in part by the Seaver Foundation and the National Institute of Mental Health through a STAART grant (U54 MH 066673). 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Neuroimaging PD DEC 30 PY 2011 VL 194 IS 3 BP 230 EP 234 DI 10.1016/j.pscychresns.2011.04.007 PG 5 WC Clinical Neurology; Neuroimaging; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 868KQ UT WOS:000298522600005 PM 22079057 ER PT J AU Hong, SS Ke, XY Tang, TY Hang, YY Chu, KK Huang, HQ Ruan, ZC Lu, ZH Tao, GT Liu, YJ AF Hong, Shanshan Ke, Xiaoyan Tang, Tianyu Hang, Yueyue Chu, Kangkang Huang, Haiqing Ruan, Zongcai Lu, Zuhong Tao, Guotai Liu, Yijun TI Detecting abnormalities of corpus callosum connectivity in autism using magnetic resonance imaging and diffusion tensor tractography SO PSYCHIATRY RESEARCH-NEUROIMAGING LA English DT Article DE DTI; MRI; White matter; Fiber tractography; Autistic disorder ID VOXEL-BASED MORPHOMETRY; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDER; WHITE-MATTER; EXECUTIVE FUNCTION; ASPERGER-SYNDROME; CHILDHOOD AUTISM; WORKING-MEMORY; YOUNG-CHILDREN; FRONTAL-LOBE AB The corpus callosum (CC) has emerged as one of the primary targets of autism research. To detect aberrant CC interhemispheric connectivity in autism, we performed T1-weighted magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI)-based tractography in 18 children with high functioning autism (HFA) and 16 well-matched typically developing (TD) children. We compared global and regional T1 measures (CC volume, and CC density), and the DTI measures [fractional anisotropy (FA), apparent diffusion coefficient (ADC), average fiber length (AFL), and fiber number (FN)] of transcallosal fibers, between the two groups. We also evaluated the relationships between scores on the Childhood Autism Rating Scale (CARS) and CC T1 or DTI measurements. Significantly less white matter density in the anterior third of the CC, and higher ADC and lower FN values of the anterior third transcallosal fiber tracts were found in HFA patients compared to TO children. These results suggested that the anterior third CC density and transcallosal fiber connectivity were affected in HFA children. (C) 2010 Elsevier Ireland Ltd. All rights reserved. C1 [Ke, Xiaoyan; Hang, Yueyue; Chu, Kangkang; Tao, Guotai] Nanjing Med Univ, Nanjing Brain Hosp, Child Mental Hlth Res Ctr, Nanjing 210029, Jiangsu, Peoples R China. [Tang, Tianyu; Huang, Haiqing; Ruan, Zongcai; Lu, Zuhong] Southeast Univ, Minist Educ, Key Lab Child Dev & Learning Sci, Nanjing 210096, Jiangsu, Peoples R China. [Hong, Shanshan] Southeast Univ, Coll Med, Affiliated Jiangyin Hosp, Dept Neurol, Jiangyin 214400, Peoples R China. [Liu, Yijun] Univ Florida, McKnight Brain Inst, Gainesville, FL 32601 USA. [Liu, Yijun] Univ Florida, Dept Psychiat, Gainesville, FL 32601 USA. RP Ke, XY (reprint author), Nanjing Med Univ, Nanjing Brain Hosp, Child Mental Hlth Res Ctr, Nanjing GuangZhou Rd 264, Nanjing 210029, Jiangsu, Peoples R China. EM kexynj@hotmail.com RI Lu, Zuhong/A-5448-2013 FU National Natural Science Foundation of China [81071111, 60628101]; Key Program of Medical Development of Nanjing [zkx10023]; Jiangsu Government FX We gratefully acknowledge the patients and their families for their support and participation. The work was supported by the National Natural Science Foundation of China (no: 81071111 and no: 60628101), the Key Program of Medical Development of Nanjing (no: zkx10023), and the Jiangsu Government Visiting Scholarship. 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This tradeoff suggests that the inhibition of eye blinks might constitute an adaptive reaction to minimize the loss of visual information, particularly information that a viewer perceives to be important. To test this hypothesis, we examined whether the timing of blink inhibition, during natural viewing, is modulated between as well as within tasks, and also whether the timing of blink inhibition varies as a function of viewer engagement and stimulus event type. While viewing video scenes, we measured the timing of blinks and blink inhibition, as well as visual scanning, in a group of typical two-year-olds, and in a group of two-year-olds known for attenuated reactivity to affective stimuli: toddlers with Autism Spectrum Disorders (ASD). Although both groups dynamically adjusted the timing of their blink inhibition at levels greater than expected by chance, they inhibited their blinking and shifted visual fixation differentially with respect to salient onscreen events. 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EM warren.jones@emory.edu FU National Institute of Mental Health [U54-MH66494, P50-MH081756-01]; Simons Foundation; Natural Sciences and Engineering Research Council of Canada; National Science Foundation FX We thank the families and children for their time and participation. We also thank Jennifer Moriuchi, David Lin, Gordon Ramsay, and Kelley Knoch for discussions of concepts and methods; Katelin Carr, Phil Gorrindo, Anna Krasno, Casey Zampella, Jessie Northrup, Laura Edwards, Jennings Xu, Katherine Rice, and Peter Lewis for their help with data collection; and Kasia Chawarska, Rhea Paul, Suzanne Macari, Amy Carney, Tina Goldsmith, Amanda Steiner, Grace Gengoux, Celine Saulnier, Diane Goudreau, Erin Loring, James McGrath, and Abha Gupta for their contributions to the clinical characterization of the samples. This work was supported by Grants U54-MH66494 and P50-MH081756-01 from the National Institute of Mental Health (to W.J. and A.K.) as well as by grants from the Simons Foundation (to W.J. and A.K.) and the Natural Sciences and Engineering Research Council of Canada (to S.S.), and a National Science Foundation Graduate Research Fellowship (to S.S.). 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Natl. Acad. Sci. U. S. A. PD DEC 27 PY 2011 VL 108 IS 52 BP 21270 EP 21275 DI 10.1073/pnas.1109304108 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 867UI UT WOS:000298479900078 PM 22160686 ER PT J AU Casanova, MF El-Baz, A Switala, A AF Casanova, Manuel F. El-Baz, Ayman Switala, Andrew TI Laws of conservation as related to brain growth, aging, and evolution: symmetry of the minicolunnn SO FRONTIERS IN NEUROANATOMY LA English DT Article DE cerebral cortex; neocortex; minicolumns; symmetry ID CELLULAR SCALING RULES; PRIMARY VISUAL-CORTEX; QUANTITATIVE-ANALYSIS; MYELINATED AXONS; CEREBRAL-CORTEX; STRIATE CORTEX; NEURONS; AUTISM; ORGANIZATION; NEOCORTEX AB Development, aging, and evolution offer different time scales regarding possible anatomical transformations of the brain. This article expands on the perspective that the cerebral cortex exhibits a modular architecture with invariant properties in regards to these time scales. These properties arise from morphometric relations of the ontogenetic minicolumn as expressed in Noether's first theorem, i.e., that for each continuous symmetry there is a conserved quantity. Whenever minicolumnar symmetry is disturbed by either developmental or aging processes the principle of least action limits the scope of morphometric alterations. Alternatively, local and global divergences from these laws apply to acquired processes when the system is no longer isolated from its environment. The underlying precepts to these physical laws can be expressed in terms of mathematical equations that are conservative of quantity. Invariant properties of the brain include the rotational symmetry of minicolumns, a scaling proportion or "even expansion" between pyramidal cells and core minicolumnar size, and the translation of neuronal elements from the main axis of the minicolumn. It is our belief that a significant portion of the architectural complexity of the cerebral cortex, its response to injury, and its evolutionary transformation, can all be captured by a small set of basic physical laws dictated by the symmetry of minicolumns. The putative preservations of parameters related to the symmetry of the minicolumn suggest that the development and final organization of the cortex follows a deterministic process. C1 [Casanova, Manuel F.; Switala, Andrew] Univ Louisville, Dept Psychiat & Behav Sci, Louisville, KY 40292 USA. [El-Baz, Ayman] Univ Louisville, Dept Bioengn, Louisville, KY 40292 USA. RP Casanova, MF (reprint author), Univ Louisville, Dept Psychiat & Behav Sci, 500 S Preston,St Bldg 55A Ste217, Louisville, KY 40292 USA. EM m0casa02@louisville.edu FU National Institutes of Health, [R01 MH-086784, R01 HD-065279] FX Funding for this work was provided by the National Institutes of Health, grant numbers R01 MH-086784 and R01 HD-065279. 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TI Structure-Activity Relationship Studies of Sulfonylpiperazine Analogues as Novel Negative Allosteric Modulators of Human Neuronal Nicotinic Receptors SO JOURNAL OF MEDICINAL CHEMISTRY LA English DT Article ID ACETYLCHOLINE-RECEPTORS; SMOKING-CESSATION; PHARMACOLOGICAL CHARACTERIZATION; PARTIAL AGONIST; DRUG DISCOVERY; ALPHA-4-BETA-2; SUBUNIT; TARGETS; VARENICLINE; ANTAGONISTS AB Neuronal nicotinic receptors have been implicated in several diseases and disorders such as autism, Alzheimer's disease, Parkinson's disease, epilepsy, and various forms of addiction. To understand the role of nicotinic receptors in these conditions, it would be beneficial to have selective molecules that target specific nicotinic receptors in vitro and in vivo. Our laboratory has previously identified novel negative allosteric modulators of human alpha 4 beta 2 (H alpha 4 beta 2) and human alpha 3 beta 4 (H alpha 3 beta 4) nicotinic receptors. 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EM Mckay.2@osu.edu FU National Institutes of Health National Institute on Drug Abuse [DA029433]; National Institutes of Health National Institute on Drug Abuse Diversity Supplement; American Chemical Society; Bruker MicrOTOF mass spectrometer FX All stably transfected human cell lines were kindly provided by Dr. Jon M. Lindstrom, Department of Neuroscience School of Medicine, University of Pennsylvania, Philadelphia, PA. This work was supported by the National Institutes of Health National Institute on Drug Abuse (Grant DA029433). Financial support for B.J.H. is from the National Institutes of Health National Institute on Drug Abuse Diversity Supplement. Financial support for R.E.P. is from an American Chemical Society Predoctoral Fellowship in Medicinal Chemistry. We thank OBIC for funding for a Bruker MicrOTOF mass spectrometer. We thank Karl Werbovetz, Ph.D., and Rostislav Likhotvorik for their help preparing this manuscript. 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We performed a genome-wide analysis of de novo CNVs in a cohort of 788 trios. Diagnoses of offspring included bipolar disorder (n = 185), schizophrenia (n = 177), and healthy controls (n = 426). Frequencies of de novo CNVs were significantly higher in bipolar disorder as compared with controls (OR = 4.8 [1.4,16.0], p = 0.009). De novo CNVs were particularly enriched among cases with an age at onset younger than 18 (OR = 6.3 [1.7,22.6], p = 0.006). We also confirmed a significant enrichment of de novo CNVs in schizophrenia (OR = 5.0 [1.5,16.8], p = 0.007). Our results suggest that rare spontaneous mutations are an important contributor to risk for bipolar disorder and other major neuropsychiatric diseases. C1 [Malhotra, Dheeraj; Michaelson, Jacob J.; Bhandari, Abhishek; Sebat, Jonathan] Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA. [Malhotra, Dheeraj; Michaelson, Jacob J.; Kelsoe, John R.; Bhandari, Abhishek; Sebat, Jonathan] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA. [Sebat, Jonathan] Univ Calif San Diego, Dept Cellular Mol & Mol Med, La Jolla, CA 92093 USA. [Kelsoe, John R.; Sebat, Jonathan] Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA. [Yoon, Seungtai; Makarov, Vladimir] Mt Sinai Sch Med, Seaver Autism Ctr, New York, NY 10029 USA. [Malhotra, Anil K.] N Shore Long Isl Jewish Hlth Syst, Zucker Hillside Hosp, Glen Oaks, NY 11004 USA. [Leibenluft, Ellen] Emot & Dev Branch, Sect Bipolar Spectrum Disorders, Bethesda, MD 20892 USA. [Potash, James B.] Univ Iowa, Dept Psychiat, Carver Coll Med, Iowa City, IA 52242 USA. [Schulze, Thomas G.] Univ Gottingen, Dept Psychiat & Psychotherapy, D-370075 Gottingen, Germany. [Cichon, Sven; Noethen, Markus M.] Univ Bonn, Dept Genom, Life & Brain Ctr, D-53127 Bonn, Germany. [Cichon, Sven; Noethen, Markus M.] Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany. [Cichon, Sven] Res Ctr Julich, Inst Neurosci & Med INM 1, D-52425 Julich, Germany. [Rietschel, Marcella] Univ Heidelberg J5, Cent Inst Mental Hlth, D-68159 Mannheim, Germany. [McMahon, Francis J.] NIMH, NIH, Bethesda, MD 20892 USA. [Vacic, Vladimir] Columbia Univ, Dept Comp Sci, New York, NY 10027 USA. [Noethen, Markus M.] German Ctr Neurodegenerat Dis DZNE, D-53175 Bonn, Germany. [Corvin, Aiden; Gill, Michael] Trinity Coll Dublin, Neuropsychiat Genet Res Grp, Inst Mol Med, Dublin 2, Ireland. [Karayiorgou, Maria] Columbia Univ, Dept Psychiat, New York, NY 10032 USA. [Corvin, Aiden; Gill, Michael] Trinity Coll Dublin, Dept Psychiat, Dublin 2, Ireland. [Krastoshevsky, Olga; Krause, Verena; Levy, Deborah L.] McLean Hosp, Belmont, MA 02478 USA. [Kelsoe, John R.] Vet Affairs San Diego Healthcare Syst, San Diego, CA 92161 USA. [Gershon, Elliot S.] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA. [Malhotra, Dheeraj; McCarthy, Shane; Vacic, Vladimir; Yoon, Seungtai; Gary, Sydney; Makarov, Vladimir; Bhandari, Abhishek; Sebat, Jonathan] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, Cold Spring Harbor, NY 12824 USA. [Burdick, Katherine E.] Mt Sinai Sch Med, New York, NY 10029 USA. RP Sebat, J (reprint author), Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA. EM jsebat@ucsd.edu RI Burdick, Katherine/G-6124-2012; Schulze, Thomas/H-2157-2013; Cichon, Sven/H-8803-2013; Cichon, Sven/B-9618-2014 OI Cichon, Sven/0000-0002-9475-086X; Cichon, Sven/0000-0002-9475-086X FU Beyster family foundation, NIH [MH076431, HG04222, MH071523, MH061399]; NARSAD; Wellcome Trust [072894/Z/03/Z]; Science Foundation Ireland [08INIB1916] FX We thank all patients and their families for their participation in this genetic study. Special thanks to James Watson for helpful discussions and support. This study was supported by a gift from Ted and Vada Stanley to the Cold Spring Harbor Laboratory, a gift to J.S. from the Beyster family foundation, NIH grants to J.S. (MH076431, HG04222), D.L.L. (MH071523), and M.K. (MH061399), grants to J.S. and D.L.L. from NARSAD, grants to A.C. and M.G. from the Wellcome Trust (072894/Z/03/Z) and Science Foundation Ireland (08INIB1916), and grants to D.L.L. from the Sidney R. Baer, Jr. Foundation and Essel Foundation. We thank the Genetic Association Information Network (GAIN), Molecular Genetics of Schizophrenia (MGS), and the Bipolar Genome Study (BiGS) for providing data for this study. We thank Roche NimbleGen and Oxford Gene Technology for their expert technical assistance. We thank Lilia M. lakoucheva and Roser Corominas for helpful discussions. 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Al-Ayadhi, Laila Y. TI The possible link between the elevated serum levels of neurokinin A and anti-ribosomal P protein antibodies in children with autism SO JOURNAL OF NEUROINFLAMMATION LA English DT Article DE Anti-ribosomal P protein antibodies; autism; autoimmunity; neurokinin A ID SUBSTANCE-P; NEUROGENIC INFLAMMATION; INCREASED FREQUENCY; DISEASE SEVERITY; BASIC-PROTEIN; NULL ALLELE; T-CELLS; AUTOANTIBODIES; TACHYKININS; ASSOCIATION AB Background: Neurogenic inflammation is orchestrated by a large number of neuropeptides. Tachykinins (substance P, neurokinin A and neurokinin B) are pro-inflammatory neuropeptides that may play an important role in some autoimmune neuroinflammatory diseases. Autoimmunity may have a role in the pathogenesis of autism in some patients. We are the first to measure serum neurokinin A levels in autistic children. The relationship between serum levels of neurokinin A and anti-ribosomal P protein antibodies was also studied. Methods: Serum neurokinin A and anti-ribosomal P protein antibodies were measured in 70 autistic children in comparison to 48 healthy-matched children. Results: Autistic children had significantly higher serum neurokinin A levels than healthy controls (P < 0.001). Children with severe autism had significantly higher serum neurokinin A levels than patients with mild to moderate autism (P < 0.001). Increased serum levels of neurokinin A and anti-ribosomal P protein antibodies were found in 57.1% and 44.3%, respectively of autistic children. There was significant positive correlations between serum levels of neurokinin A and anti-ribosomal P protein antibodies (P = 0.004). Conclusions: Serum neurokinin A levels were elevated in some autistic children and they were significantly correlated to the severity of autism and to serum levels of anti-ribosomal P protein antibodies. However, this is an initial report that warrants further research to determine the pathogenic role of neurokinin A and its possible link to autoimmunity in autism. The therapeutic role of tachykinin receptor antagonists, a potential new class of anti-inflammatory medications, should also be studied in autism. C1 [Mostafa, Gehan A.; Al-Ayadhi, Laila Y.] King Saud Univ, Autism Res & Treatment Ctr, Al Amodi Autism Res Chair, Dept Physiol,Fac Med, Riyadh, Saudi Arabia. [Mostafa, Gehan A.] Ain Shams Univ, Dept Pediat, Fac Med, Cairo, Egypt. RP Mostafa, GA (reprint author), King Saud Univ, Autism Res & Treatment Ctr, Al Amodi Autism Res Chair, Dept Physiol,Fac Med, Riyadh, Saudi Arabia. EM hafezg@softhome.net FU King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia; Kind Saud University FX This work was financially supported by the King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. It was also supported by NPST, Health Research and Studies program at Kind Saud University. 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Psychiatry PD DEC 15 PY 2011 VL 70 IS 12 BP 1102 EP 1103 DI 10.1016/j.biopsych.2011.10.003 PG 2 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 860WW UT WOS:000297980000001 PM 22115410 ER PT J AU Rees, E Moskvina, V Owen, MJ O'Donovan, MC Kirov, G AF Rees, Elliott Moskvina, Valentina Owen, Michael J. O'Donovan, Michael C. Kirov, George TI De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants SO BIOLOGICAL PSYCHIATRY LA English DT Article DE Autism; CNV; de novo; mutation; persistence; schizophrenia; selection ID IDIOPATHIC GENERALIZED EPILEPSY; RARE CHROMOSOMAL DELETIONS; CONGENITAL HEART-DISEASE; AUTISM-SPECTRUM; RECURRENT MICRODELETIONS; 15Q13.3 MICRODELETIONS; MENTAL-RETARDATION; INCREASE RISK; DISORDERS; PREVALENCE AB Background: At least 10 large and rare recurrent DNA copy number variants (CNVs) have been identified as risk factors for schizophrenia and other neurodevelopmental disorders. Because such conditions are associated with reduced fecundity, these pathogenic CNVs should be filtered out from the population by selection and must be replenished by de novo events. Methods: To estimate the mutation rate (mu) for these CNVs and the selection pressure (s) against them, we first conducted a literature review on the rate of each of these CNVs in the population and the rate of their de novo occurrence. In each generation, the number of CNVs lost because of reduced fertility must be replenished by the same number of de novo CNVs. Therefore, the observed ratio of de novo versus all (inherited + de novo) CNVs approximates the selection coefficient (s) of that CNV. The mutation rate approximates to mu = s x q, where q is the frequency of the CNV in the population. Results: High selection pressure operates at all these loci (s = .12-.88), suggesting that following de novo occurrence, each of these CNVs persists in the population in only a few generations. The mutation rate for each CNV is high, affecting between 1:3500 and 1:30,000 individuals. The rarest CNVs have the highest selection coefficients. Conclusions: The CNVs that increase risk to develop schizophrenia are caused by recent de novo mutations and are under strong selection pressure. They persist in the population because of high mutation rates. C1 [Rees, Elliott; Moskvina, Valentina; Owen, Michael J.; O'Donovan, Michael C.; Kirov, George] Cardiff Univ, Dept Psychol Med & Neurol, MRC, Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales. RP Kirov, G (reprint author), Cardiff Univ, Dept Psychol Med & Neurol, MRC, Ctr Neuropsychiat Genet & Genom, Henry Wellcome Bldg,Heath Pk, Cardiff, S Glam, Wales. 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Psychiatry PD DEC 15 PY 2011 VL 70 IS 12 BP 1109 EP 1114 DI 10.1016/j.biopsych.2011.07.011 PG 6 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 860WW UT WOS:000297980000004 PM 21855053 ER PT J AU Melhem, N Middleton, F McFadden, K Klei, L Faraone, SV Vinogradov, S Tiobech, J Yano, V Kuartei, S Roeder, K Byerley, W Devlin, B Myles-Worsley, M AF Melhem, Nadine Middleton, Frank McFadden, Kathryn Klei, Lambertus Faraone, Stephen V. Vinogradov, Sophia Tiobech, Josepha Yano, Victor Kuartei, Stevenson Roeder, Kathryn Byerley, William Devlin, Bernie Myles-Worsley, Marina TI Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees SO BIOLOGICAL PSYCHIATRY LA English DT Article DE A2BP1; copy number variants (CNVs); IL1RAPL1; Palau; psychotic disorders; schizophrenia ID RARE CHROMOSOMAL DELETIONS; KLINEFELTER-SYNDROME; MENTAL-RETARDATION; LINKAGE DISEQUILIBRIUM; PATERNAL AGE; GENOME; AUTISM; GENE; ASSOCIATION; MICRODELETIONS AB Background: We report on copy number variants (CNVs) found in Palauan subjects ascertained for schizophrenia and related psychotic disorders in extended pedigrees in Palau. We compare CNVs found in this Oceanic population with those seen in other samples, typically of European ancestry. Assessing CNVs in Palauan extended pedigrees yields insight into the evolution of risk CNVs, such as how they arise, are transmitted, and are lost from populations by stochastic or selective processes, none of which are easily measured from case-control samples. Methods: DNA samples from 197 subjects affected with schizophrenia and related psychotic disorders, 185 of their relatives, and 159 control subjects were successfully characterized for CNVs using Affymetrix Genomewide Human SNP Array 5.0. Results: Copy number variants thought to be associated with risk for schizophrenia and related disorders also occur in affected individuals in Palau, specifically 15q11.2 and 1q21.1 deletions, partial duplication of IL1RAPL1 (Xp21.3), and chromosome X duplications (Klinefelter's syndrome). Partial duplication within A2BP1 appears to convey an eightfold increased risk in male subjects (95% confidence interval, .8-84.4) but not female subjects (odds ratio = .4, 95% confidence interval, .03-4.9). Affected-only linkage analysis using this variant yields a logarithm of the odds score of 3.5. Conclusions: This study reveals CNVs that confer risk to schizophrenia and related psychotic disorders in Palau, most of which have been previously observed in samples of European ancestry. Only a few of these CNVs show evidence that they have existed for many generations, consistent with risk variants diminishing reproductive success. C1 [Melhem, Nadine; Klei, Lambertus; Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA. [McFadden, Kathryn] Univ Pittsburgh, Sch Med, Div Neuropathol, Pittsburgh, PA 15213 USA. [Middleton, Frank; Faraone, Stephen V.; Myles-Worsley, Marina] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY USA. [Vinogradov, Sophia; Byerley, William] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA. [Tiobech, Josepha; Yano, Victor; Kuartei, Stevenson] Palauan Minist Hlth, Koror, Palau. [Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA. RP Devlin, B (reprint author), Univ Pittsburgh, Sch Med, Dept Psychiat, 3811 OHara St,TDH WPIC 430 Oxford, Pittsburgh, PA 15213 USA. EM devlinbj@upmc.edu RI Melhem, Nadine/G-1510-2013 FU National Institutes of Health (NIH) [MH080375, MH080373, MH080299, MH077930, HHSN268200782096C]; Shire Development; Shire; McNeil; Janssen; Novartis; Pfizer; Eli Lilly FX This study was supported by National Institutes of Health (NIH) Grants MH080375, MH080373, MH080299, and MH077930.We are grateful to the people of Palau for their participation in this study. For short tandem repeat and Y marker results, genotyping services were provided by the Center for Inherited Disease Research. The Center for Inherited Disease Research is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, contract number HHSN268200782096C.In the past year, Dr. Faraone received consulting fees and was on Advisory Boards for Shire Development and received research support from Shire and the NIH. In previous years, he received consulting fees or was on Advisory Boards or participated in continuing medical education programs sponsored by Shire, McNeil, Janssen, Novartis, Pfizer, and Eli Lilly. In previous years, he received research support from Eli Lilly, Shire, Pfizer, and the NIH. Dr. Faraone receives royalties from a book published by Guilford Press, Straight Talk About Your Child's Mental Health. All other authors report no biomedical financial interests or potential conflicts of interest. 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Individuals with 3 Mb and nested 1.5 Mb hemizygosity of the chromosome 22q11.2 represent genetically identifiable cases of ASD. However, because more than 30 genes are deleted even in the minimal deletion cases of 22q11.2 deficiency, the individual 22q11.2 gene(s) responsible for ASD remain elusive. Here, we examined the impact of constitutive heterozygosity of Tbx1, a 22q11.2 gene, on the behavioral phenotypes of ASD and characterized the regional and cellular expression of its mRNA and protein in mice. Congenic Tbx1 heterozygous (HT) mice were impaired in social interaction, ultrasonic vocalization, memory-based behavioral alternation, working memory and thigmotaxis, compared with wild-type (WT) mice. These phenotypes were not due to nonspecific alterations in olfactory function, exploratory behavior, motor movement or anxiety-related behavior. Tbx1 mRNA and protein were ubiquitously expressed throughout the brains of C57BL/6J mice, but protein expression was enriched in regions that postnatally retain the capacity of neurogenesis, and in fact, postnatally proliferating cells expressed Tbx1. In postnatally derived hippocampal culture cells of C57BL/6J mice, Tbx1 levels were higher during proliferation than during differentiation, and expressed in neural progenitor cells, immature and matured neurons and glial cells. Taken together, our data suggest that Tbx1 is a gene responsible for the phenotypes of 22q11.2 hemizygosity-associated ASD possibly through its role in diverse cell types, including postnatally and prenatally generated neurons. C1 [Hiroi, Noboru] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Dominick P Purpura Dept Neurosci, Bronx, NY 10461 USA. [Satoh, Yasushi] Natl Def Med Coll, Dept Anesthesiol, Tokorozawa, Saitama 359, Japan. 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Mol. Genet. PD DEC 15 PY 2011 VL 20 IS 24 BP 4775 EP 4785 DI 10.1093/hmg/ddr404 PG 11 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 851BA UT WOS:000297242100002 PM 21908517 ER PT J AU Valnegri, P Montrasio, C Brambilla, D Ko, J Passafaro, M Sala, C AF Valnegri, Pamela Montrasio, Chiara Brambilla, Dario Ko, Jaewon Passafaro, Maria Sala, Carlo TI The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTP delta and RhoGAP2 SO HUMAN MOLECULAR GENETICS LA English DT Article ID DENDRITIC SPINE MORPHOLOGY; MENTAL-RETARDATION; TYROSINE PHOSPHATASES; ADHESION MOLECULES; RHO-GTPASES; FAMILY; GENE; AUTISM; NEUROLIGINS; PLASTICITY AB Mutations of the Interleukin-1-receptor accessory protein like 1 (IL1RAPL1) gene are associated with cognitive impairment ranging from non-syndromic X-linked mental retardation to autism. IL1RAPL1 belongs to a novel family of IL1/Toll receptors, which is localized at excitatory synapses and interacts with PSD-95. We previously showed that IL1RAPL1 regulates the synaptic localization of PSD-95 by controlling c-Jun N-terminal kinase activity and PSD-95 phosphorylation. Here, we show that the IgG-like extracellular domains of IL1RAPL1 induce excitatory pre-synapse formation by interacting with protein tyrosine phosphatase delta (PTP delta). We also found that IL1RAPL1 TIR domains interact with RhoGAP2, which is localized at the excitatory post-synaptic density. More interestingly, the IL1RAPL1/PTP delta complex recruits RhoGAP2 at excitatory synapses to induce dendritic spine formation. We also found that the IL1RAPL1 paralog, IL1RAPL2, interacts with PTPd and induces excitatory synapse and dendritic spine formation. The interaction of the IL1RAPL1 family of proteins with PTPd and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling that regulates excitatory synapse and dendritic spine formation. C1 [Valnegri, Pamela; Montrasio, Chiara; Passafaro, Maria; Sala, Carlo] Univ Milan, CNR Inst Neurosci, I-20129 Milan, Italy. [Valnegri, Pamela; Montrasio, Chiara; Passafaro, Maria; Sala, Carlo] Univ Milan, Dept Pharmacol, I-20129 Milan, Italy. [Valnegri, Pamela; Montrasio, Chiara; Passafaro, Maria] Dulbecco Telethon Inst, Rome, Italy. [Brambilla, Dario] Univ Milan, Dept Human Physiol, I-20133 Milan, Italy. [Ko, Jaewon] Yonsei Univ, Coll Life Sci & Biotechnol, Dept Biochem, Seoul 120749, South Korea. [Sala, Carlo] Neurol Inst Fdn Carlo Besta, I-20133 Milan, Italy. RP Sala, C (reprint author), Univ Milan, CNR Inst Neurosci, Via Vanvitelli 32, I-20129 Milan, Italy. EM c.sala@in.cnr.it RI Brambilla, Dario/F-3126-2012; Sala, Carlo/A-2493-2009 OI Sala, Carlo/0000-0003-0662-9523 FU Regione Lombardia [SAL-50-16983 TERDISMENTAL]; Human Frontier Science Program Organization [LT00021/2008-L]; Telethon, Italy [S01014TELU, GGP09196]; Fondazione Cariplo [2008-2318, 2009.264]; RSTL-CNR; Italian Institute of Technology; Ministry of Health FX C.S. and M. P. were supported by Regione Lombardia (project number SAL-50-16983 TERDISMENTAL). J.K. was supported by Human Frontier Science Program Organization (grant number LT00021/2008-L). M. P. was supported by Telethon, Italy (grant number S01014TELU) and Fondazione Cariplo (project number 2008-2318). C. S. was supported by Telethon, Italy (grant number GGP09196), Fondazione CARIPLO (project number 2009.264), RSTL-CNR, Italian Institute of Technology, Seed Grant and Ministry of Health in the frame of ERA-NET NEURON. Funding to pay the Open Access publication charges for this article was provided by Telethon, Italy. 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Here, we report the first evidence that social anxiety is associated with recognition of face identity, across the population range of individual differences in recognition abilities. Results showed poorer face identity recognition (on the Cambridge Face Memory Test) was correlated with a small but significant increase in social anxiety (Social Interaction Anxiety Scale) but not general anxiety (State-Trait Anxiety Inventory). The correlation was also independent of general visual memory (Cambridge Car Memory Test) and IQ. Theoretically, the correlation could arise because correct identification of people, typically achieved via faces, is important for successful social interactions, extending evidence that individuals with clinical-level deficits in face identity recognition (prosopagnosia) often report social stress due to their inability to recognise others. 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Lippman Sun, Hongyu Jensen, Frances E. TI Hypoxia-Induced Neonatal Seizures Diminish Silent Synapses and Long-Term Potentiation in Hippocampal CA1 Neurons SO JOURNAL OF NEUROSCIENCE LA English DT Article ID AUTISM SPECTRUM DISORDERS; AMPA RECEPTOR TRAFFICKING; SYNAPTIC PLASTICITY; PERINATAL HYPOXIA; DEVELOPMENTAL REGULATION; DEVELOPING BRAIN; PYRAMIDAL CELLS; RETT-SYNDROME; MOUSE MODEL; IN-VIVO AB Neonatal seizures can lead to epilepsy and long-term cognitive deficits into adulthood. Using a rodent model of the most common form of human neonatal seizures, hypoxia-induced seizures (HS), we aimed to determine whether these seizures modify long-term potentiation (LTP) and silent NMDAR-only synapses in hippocampal CA1. At 48-72 h after HS, electrophysiology and immunofluorescent confocal microscopy revealed a significant decrease in the incidence of silent synapses, and an increase in AMPARs at the synapses. Coincident with this decrease in silent synapses, there was an attenuation of LTP elicited by either tetanic stimulation of Schaffer collaterals or a pairing protocol, and persistent attenuation of LTP in slices removed in later adulthood after P10 HS. Furthermore, postseizure treatment in vivo with the AMPAR antagonist 2,3-dihydroxy-6-nitro-7-sulfonyl-benzo[f] quinoxaline (NBQX) protected against the HS-induced depletion of silent synapses and preserved LTP. Thus, this study demonstrates a novel mechanism by which early life seizures could impair synaptic plasticity, suggesting a potential target for therapeutic strategies to prevent long-term cognitive deficits. C1 [Zhou, Chengwen; Bell, Jocelyn J. Lippman; Sun, Hongyu; Jensen, Frances E.] Childrens Hosp, Dept Neurol, Div Neurosci, Boston, MA 02115 USA. [Jensen, Frances E.] Harvard Univ, Sch Med, Program Neurobiol, Boston, MA 02115 USA. RP Jensen, FE (reprint author), 300 Longwood Ave,CLS14073, Boston, MA 02115 USA. EM frances.jensen@childrens.harvard.edu RI Sun, Hongyu/O-2853-2013 FU National Institutes of Health [NS 31718, DP1 OD003347, NICHD 5T32HD007466, NINDS NRSA F32NS068161-02]; Intellectual and Developmental Disorders Research Center [NIH NICHHD P30 HD18655] FX This work was supported by funding from National Institutes of Health NS 31718 (F.E.J.), DP1 OD003347 (F.E.J.), NICHD 5T32HD007466 (C.Z.), and NINDS NRSA F32NS068161-02 (J.L.B.) and by core support from the Intellectual and Developmental Disorders Research Center Grant (NIH NICHHD P30 HD18655). We thank Peter Klein for technical assistance and Nikolaus Sucher, PhD, for his helpful comments on this manuscript. 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Neurosci. PD DEC 14 PY 2011 VL 31 IS 50 BP 18211 EP 18222 DI 10.1523/JNEUROSCI.4838-11.2011 PG 12 WC Neurosciences SC Neurosciences & Neurology GA 861YA UT WOS:000298055600003 PM 22171027 ER PT J AU Chen, FS Kumsta, R von Dawans, B Monakhov, M Ebstein, RP Heinrichs, M AF Chen, Frances S. Kumsta, Robert von Dawans, Bernadette Monakhov, Mikhail Ebstein, Richard P. Heinrichs, Markus TI Common oxytocin receptor gene (OXTR) polymorphism and social support interact to reduce stress in humans SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article ID SUBJECTIVE RESPONSES; CORTISOL RESPONSES; NEURAL CIRCUITRY; AUTISM; ASSOCIATION; AMYGDALA; BEHAVIOR; COGNITION; HEALTH; ADULTS AB The neuropeptide oxytocin has played an essential role in the regulation of social behavior and attachment throughout mammalian evolution. Because recent studies in humans have shown that oxytocin administration reduces stress responses and increases prosocial behavior, we investigated whether a common single nucleotide polymorphism (rs53576) in the oxytocin receptor gene (OXTR) might interact with stress-protective effects of social support. Salivary cortisol samples and subjective stress ratings were obtained from 194 healthy male participants before, during, and after a standardized psychosocial laboratory stress procedure. Participants were randomly assigned either to prepare alone or to receive social support from their female partner or close female friend while preparing for the stressful task. Differential stress responses between the genotype groups were observed depending on the presence or absence of social support. Only individuals with one or two copies of the G allele of rs53576 showed lower cortisol responses to stress after social support, compared with individuals with the same genotype receiving no social support. These results indicate that genetic variation of the oxytocin system modulates the effectiveness of positive social interaction as a protective buffer against a stressful experience. C1 [Chen, Frances S.; Kumsta, Robert; von Dawans, Bernadette; Heinrichs, Markus] Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, D-79104 Freiburg, Germany. [Monakhov, Mikhail; Ebstein, Richard P.] Natl Univ Singapore, Dept Psychol, Singapore 117570, Singapore. [Ebstein, Richard P.] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel. [Heinrichs, Markus] Univ Freiburg, Univ Med Ctr, Freiburg Brain Imaging Ctr, D-79106 Freiburg, Germany. RP Heinrichs, M (reprint author), Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, D-79104 Freiburg, Germany. EM heinrichs@psychologie.uni-freiburg.de FU Swiss National Science Foundation [SNSF PP001-114788]; Alexander von Humboldt Foundation FX We thank Eva Bareth, Daniela Conrad, Melanie Filser, Angela Herwede, Irini Johann, Juliane Kant, Theresa Lueer, Maurice Mink, Maxi Pannicke, Marina Pohl, Anna Sartori, Katja Schlichtig, Alexandra Schultz, Philomena Storz, and Julia-Caroline Walther for assistance during data collection, and Kathleen Krol for editorial assistance. This study was supported by Swiss National Science Foundation Research Grant SNSF PP001-114788 (to M. H.). F. S. C. is supported by a research fellowship from the Alexander von Humboldt Foundation. 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Accelerated brain growth during early childhood is a well-established biological feature of autism. Onset pattern, i.e., early onset or regressive, is an intensely studied behavioral phenotype of autism. There is currently little known, however, about whether, or how, onset status maps onto the abnormal brain growth. We examined the relationship between total brain volume and onset status in a large sample of 2- to 4-y-old boys and girls with autism spectrum disorder (ASD) [n = 53, no regression (nREG); n = 61, regression (REG)] and a comparison group of age-matched typically developing controls (n = 66). We also examined retrospective head circumference measurements from birth through 18 mo of age. We found that abnormal brain enlargement was most commonly found in boys with regressive autism. Brain size in boys without regression did not differ from controls. Retrospective head circumference measurements indicate that head circumference in boys with regressive autism is normal at birth but diverges from the other groups around 4-6 mo of age. There were no differences in brain size in girls with autism (n = 22, ASD; n = 24, controls). These results suggest that there may be distinct neural phenotypes associated with different onsets of autism. For boys with regressive autism, divergence in brain size occurs well before loss of skills is commonly reported. Thus, rapid head growth may be a risk factor for regressive autism. C1 [Nordahl, Christine Wu; Li, Deana D.; Barnett, Lou Ann; Lee, Aaron; Simon, Tony J.; Rogers, Sally; Ozonoff, Sally; Amaral, David G.] Univ Calif Davis, Med Invest Neurodev Disorders MIND Inst, UC Davis Sch Med, Sacramento, CA 95817 USA. [Nordahl, Christine Wu; Li, Deana D.; Barnett, Lou Ann; Lee, Aaron; Simon, Tony J.; Rogers, Sally; Ozonoff, Sally; Amaral, David G.] Univ Calif Davis, Dept Psychiat & Behav Sci, UC Davis Sch Med, Sacramento, CA 95817 USA. [Lange, Nicholas] Harvard Univ, Dept Psychiat, Sch Med & Publ Hlth, McLean Hosp, Belmont, MA 02478 USA. [Lange, Nicholas] Harvard Univ, Dept Biostat, Sch Med & Publ Hlth, McLean Hosp, Belmont, MA 02478 USA. [Buonocore, Michael H.] Univ Calif Davis, Dept Radiol, UC Davis Sch Med, Sacramento, CA 95817 USA. RP Amaral, DG (reprint author), Univ Calif Davis, Med Invest Neurodev Disorders MIND Inst, UC Davis Sch Med, Sacramento, CA 95817 USA. EM dgamaral@ucdavis.edu FU National Institute of Mental Health [1R01MH089626, U24MH081810, 1K99MH085099]; University of California Davis Medical Investigation of Neurodevelopmental Disorders Institute FX The authors acknowledge the following individuals for their help in the logistics of family visits and data collection: L. Deprey, K. Harrington, J. Nguyen, K. Ross, S. Rumberg, P. Shoja, and A. Stark. We thank E. Fletcher for technical assistance and K. Camilleri, C. Green, C. McCormick, S. Subramanian, R. Scholz, S. Sepehri, M. Shen, and C. Rossi for invaluable assistance in acquiring MRI data; and we especially thank all of the families and children who participated in the Autism Phenome Project study. Funding for this study was provided by the National Institute of Mental Health (1R01MH089626, U24MH081810, and 1K99MH085099) and the University of California Davis Medical Investigation of Neurodevelopmental Disorders Institute. 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Natl. Acad. Sci. U. S. A. PD DEC 13 PY 2011 VL 108 IS 50 BP 20195 EP 20200 DI 10.1073/pnas.1107560108 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 861QR UT WOS:000298034800071 PM 22123952 ER PT J AU Adams, JB Audhya, T McDonough-Means, S Rubin, RA Quig, D Geis, E Gehn, E Loresto, M Mitchell, J Atwood, S Barnhouse, S Lee, W AF Adams, James B. Audhya, Tapan McDonough-Means, Sharon Rubin, Robert A. Quig, David Geis, Elizabeth Gehn, Eva Loresto, Melissa Mitchell, Jessica Atwood, Sharon Barnhouse, Suzanne Lee, Wondra TI Effect of a vitamin/mineral supplement on children and adults with autism SO BMC PEDIATRICS LA English DT Article ID POLYETHYLENE GLYCOL-1000 SUCCINATE; SOLUBLE VITAMIN-E; REGRESSIVE AUTISM; OXIDATIVE STRESS; DISORDER; CHILDHOOD; EFFICACY; SEVERITY; BEHAVIOR; MERCURY AB Background: Vitamin/mineral supplements are among the most commonly used treatments for autism, but the research on their use for treating autism has been limited. Method: This study is a randomized, double-blind, placebo-controlled three month vitamin/mineral treatment study. The study involved 141 children and adults with autism, and pre and post symptoms of autism were assessed. None of the participants had taken a vitamin/mineral supplement in the two months prior to the start of the study. For a subset of the participants (53 children ages 5-16) pre and post measurements of nutritional and metabolic status were also conducted. Results: The vitamin/mineral supplement was generally well-tolerated, and individually titrated to optimum benefit. Levels of many vitamins, minerals, and biomarkers improved/increased showing good compliance and absorption. Statistically significant improvements in metabolic status were many including: total sulfate (+ 17%, p = 0.001), S-adenosylmethionine (SAM; +6%, p = 0.003), reduced glutathione (+ 17%, p = 0.0008), ratio of oxidized glutathione to reduced glutathione (GSSG: GSH; -27%, p = 0.002), nitrotyrosine (-29%, p = 0.004), ATP (+ 25%, p = 0.000001), NADH (+28%, p = 0.0002), and NADPH (+ 30%, p = 0.001). Most of these metabolic biomarkers improved to normal or near-normal levels. The supplement group had significantly greater improvements than the placebo group on the Parental Global Impressions-Revised (PGI-R, Average Change, p = 0.008), and on the subscores for Hyperactivity (p = 0.003), Tantrumming (p = 0.009), Overall (p = 0.02), and Receptive Language (p = 0.03). For the other three assessment tools the difference between treatment group and placebo group was not statistically significant. Regression analysis revealed that the degree of improvement on the Average Change of the PGI-R was strongly associated with several biomarkers (adj. R-2 = 0.61, p < 0.0005) with the initial levels of biotin and vitamin K being the most significant (p < 0.05); both biotin and vitamin K are made by beneficial intestinal flora. Conclusions: Oral vitamin/mineral supplementation is beneficial in improving the nutritional and metabolic status of children with autism, including improvements in methylation, glutathione, oxidative stress, sulfation, ATP, NADH, and NADPH. The supplement group had significantly greater improvements than did the placebo group on the PGI-R Average Change. This suggests that a vitamin/mineral supplement is a reasonable adjunct therapy to consider for most children and adults with autism. C1 [Adams, James B.; Geis, Elizabeth; Gehn, Eva; Loresto, Melissa; Atwood, Sharon; Barnhouse, Suzanne; Lee, Wondra] Arizona State Univ, Autism Aspergers Res Program, Tempe, AZ 85287 USA. [Audhya, Tapan] Hlth Diagnost & Res Inst, S Amboy, NJ USA. [McDonough-Means, Sharon] Integrat Dev Pediat, Tucson, AZ USA. [Rubin, Robert A.] Whittier Coll, Dept Math, Whittier, CA USA. [Quig, David] Doctors Data, St Charles, IL USA. [Mitchell, Jessica] SW Coll Naturopath Med, Tempe, AZ USA. RP Adams, JB (reprint author), Arizona State Univ, Autism Aspergers Res Program, Tempe, AZ 85287 USA. EM jim.adams@asu.edu FU Autism Research Institute; Legacy Foundation FX First and foremost, we thank the many autism families and their friends who volunteered as participants in this research study. We thank the Autism Research Institute and the Legacy Foundation for financial support of this study. We thank Yasoo Health for providing the supplement for the study. We thank the staff of the Southwest College of Naturopathic Medicine (N. Foster, M. Harland, B. Peterson, N. Tkacenko) for help with phlebotomy, and we thank ICDRC for providing use of their offices for participant visits. We thank Vitamin Diagnostics and Doctor's Data for providing testing for this study. CR Adams JB, 2006, J ALTERN COMPLEM MED, V12, P59, DOI 10.1089/acm.2006.12.59 Adams JB, C P FALL 2003 DEF AU, P71 Adams JB, 2006, BIOL TRACE ELEM RES, V110, P193, DOI 10.1385/BTER:110:3:193 Adams JB, 2011, BMC GASTROENTEROL, V11, DOI 10.1186/1471-230X-11-22 Adams J. 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Misexpression of HMGN1 affects the cellular transcription profile; however, the biological function of this protein is still not fully understood. We report that HMGN1 modulates the expression of methyl CpG-binding protein 2 (MeCP2), a DNA-binding protein known to affect neurological functions including autism spectrum disorders, and whose alterations in HMGN1 levels affect the behavior of mice. Quantitative PCR and Western analyses of cell lines and brain tissues from mice that either overexpress or lack HMGN1 indicate that HMGN1 is a negative regulator of MeCP2 expression. Alterations in HMGN1 levels lead to changes in chromatin structure and histone modifications in the MeCP2 promoter. Behavior analyses by open field test, elevated plus maze, Reciprocal Social Interaction, and automated sociability test link changes in HMGN1 levels to abnormalities in activity and anxiety and to social deficits in mice. Targeted analysis of the Autism Genetic Resource Exchange genotype collection reveals a non-random distribution of genotypes within 500 kbp of HMGN1 in a region affecting its expression in families predisposed to autism spectrum disorders. Our results reveal that HMGN1 affects the behavior of mice and suggest that epigenetic changes resulting from altered HMGN1 levels could play a role in the etiology of neurodevelopmental disorders. C1 [Abuhatzira, Liron; Bustin, Michael] NCI, Prot Sect, Lab Metab, Ctr Canc Res, Bethesda, MD 20892 USA. [Schaeffer, Alejandro A.] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20892 USA. [Shamir, Alon] NICHD, Bethesda, MD 20892 USA. [Schones, Dustin E.] City Hope Natl Med Ctr, Duarte, CA 91010 USA. RP Bustin, M (reprint author), Bldg 37,Rm 3122, Bethesda, MD 20892 USA. EM Bustin@helix.nih.gov RI Schaffer, Alejandro/F-2902-2012 FU National Institutes of Health Center for Cancer Research; NCI; National Library of Medicine; NIMH, National Institutes of Health [1U24MH081810] FX This work was supported, in whole or in part, by National Institutes of Health Center for Cancer Research, the intramural program of the NCI, and by the Intramural Research Program of the National Library of Medicine.Human brain tissue was obtained from the NICHD, National Institutes of Health Brain and Tissue Bank for Developmental Disorders at the University of Maryland, Baltimore, MD. We acknowledge the resources provided by the AGRE Consortium and the participating AGRE families. AGRE is a program of Autism Speaks and is supported, in part, by NIMH, National Institutes of Health Grant 1U24MH081810 (to Dr. Clara M. Lajonchere). We thank Dr. Vlad Kustanovich at AGRE for answering numerous questions, Dr. Stefan Wuchty for extracting the FHS data from dbGa-Pand, and Dr. Mu Yang, NIMH, National Institutes of Health for critical review of the mouse behavior test results. 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Increasingly, structural variations in discrete chromosomal loci are implicated in ASD, expanding the search space for its disease etiology. We exploited the high genetic heterogeneity of ASD to derive a predictive map of candidate genes by an integrated bioinformatics approach. Using a reference set of 84 Rare and Syndromic candidate ASD genes (AutRef84), we built a composite reference profile based on both functional and expression analyses. First, we created a functional profile of AutRef84 by performing Gene Ontology (GO) enrichment analysis which encompassed three main areas: 1) neurogenesis/projection, 2) cell adhesion, and 3) ion channel activity. Second, we constructed an expression profile of AutRef84 by conducting DAVID analysis which found enrichment in brain regions critical for sensory information processing (olfactory bulb, occipital lobe), executive function (prefrontal cortex), and hormone secretion (pituitary). Disease specificity of this dual AutRef84 profile was demonstrated by comparative analysis with control, diabetes, and non-specific gene sets. We then screened the human genome with the dual AutRef84 profile to derive a set of 460 potential ASD candidate genes. Importantly, the power of our predictive gene map was demonstrated by capturing 18 existing ASD-associated genes which were not part of the AutRef84 input dataset. The remaining 442 genes are entirely novel putative ASD risk genes. Together, we used a composite ASD reference profile to generate a predictive map of novel ASD candidate genes which should be prioritized for future research. C1 [Kumar, Ajay; Swanwick, Catherine Croft; Johnson, Nicole; Menashe, Idan; Basu, Saumyendra N.; Banerjee-Basu, Sharmila] MindSpec, Mclean, VA USA. [Bales, Michael E.] NMBI Syst, New York, NY USA. RP Kumar, A (reprint author), MindSpec, Mclean, VA USA. 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Holden, Jameson K. Dennis, Robert G. Tommerdahl, Mark TI Somatosensory information processing in the aging population SO FRONTIERS IN AGING NEUROSCIENCE LA English DT Article DE aging; sensory; plasticity; adaptation; tactile; somatosensory ID STIMULUS-DRIVEN SYNCHRONIZATION; WHITE-MATTER INTEGRITY; VIBROTACTILE THRESHOLDS; OLDER-ADULTS; REACTION-TIME; CORTICAL REORGANIZATION; INDIVIDUAL-DIFFERENCES; SPATIAL LOCALIZATION; SENSORY PERCEPTION; HEALTHY-ADULTS AB While it is well known that skin physiology - and consequently sensitivity to peripheral stimuli - degrades with age, what is less appreciated is that centrally mediated mechanisms allow for maintenance of the same degree of functionality in processing these peripheral inputs and interacting with the external environment. In order to demonstrate this concept, we obtained observations of processing speed, sensitivity (thresholds), discriminative capacity, and adaptation metrics on subjects ranging in age from 18 to 70. The results indicate that although reaction speed and sensory thresholds change with age, discriminative capacity, and adaptation metrics do not. The significance of these findings is that similar metrics of adaptation have been demonstrated to change significantly when the central nervous system (CNS) is compromised. Such compromise has been demonstrated in subject populations with autism, chronic pain, acute NMDA receptor block, concussion, and with tactile-thermal interactions. If the metric of adaptation parallels cortical plasticity, the results of the current study suggest that the CNS in the aging population is still capable of plastic changes, and this cortical plasticity could be the mechanism that compensates for the degradations that are known to naturally occur with age. Thus, these quantitative measures - since they can be obtained efficiently and objectively, and appear to deviate from normative values significantly with systemic cortical alterations - could be useful indicators of cerebral cortical health. C1 [Zhang, Zheng; Francisco, Eric M.; Holden, Jameson K.; Dennis, Robert G.; Tommerdahl, Mark] Univ N Carolina, Dept Biomed Engn, Chapel Hill, NC 27599 USA. RP Tommerdahl, M (reprint author), Univ N Carolina, Dept Biomed Engn, CB 7575, Chapel Hill, NC 27599 USA. EM tommerda@med.unc.edu FU Department of Defense, Congressionally Directed Medical Research Program (CDMRP) [W81XWH-07-1-0287, NIH 1-R21-NS072811-01A1] FX This work was supported, in part by the Department of Defense, Congressionally Directed Medical Research Program (CDMRP) W81XWH-07-1-0287, and NIH 1-R21-NS072811-01A1. 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Aging Neurosci. PD DEC 8 PY 2011 VL 3 AR 18 DI 10.3389/fnagi.2011.00018 PG 9 WC Geriatrics & Gerontology; Neurosciences SC Geriatrics & Gerontology; Neurosciences & Neurology GA 054KD UT WOS:000312341500001 PM 22163221 ER PT J AU Christensen, H Batterham, PJ Hickie, IB McGorry, PD Mitchell, PB Kulkarni, J AF Christensen, Helen Batterham, Philip J. Hickie, Ian B. McGorry, Patrick D. Mitchell, Philip B. Kulkarni, Jayashri TI Funding for mental health research: the gap remains SO MEDICAL JOURNAL OF AUSTRALIA LA English DT Article AB Objectives: To examine the levels and growth rates of absolute funding to mental health research from 2001 to 2010, compared with other National Health Priority Areas (NHPAs), and the relative rate of mental health funding compared with other NHPAs, by taking disease burden into account. The quality of Australian research in mental health was also examined using objective indicators of research strength. Design and setting: Retrospective analysis of levels of funding overall and as a function of mental health domains using data from the National Health and Medical Research Council, with and without adjustment for burden of disease. A keyword analysis was used to assess the success rate of mental health project grant applications. Objective indicators of the quality of Australian mental health research were sought from citation indicators. Main outcome measures: Funding for mental health research relative to disease burden; funding according to disease category; project grant success rates. Results: Using actual and adjusted figures, mental health research received a lower proportion of health funding than other NHPAs, including cancer, diabetes and cardiovascular disease. Research projects into substance misuse and autism were proportionately better funded than those in anxiety, depression or schizophrenia. A significant proportion of mental health research funding was awarded to research into ageing. Citation data indicated that mental health research in Australia performed better than research in neuroscience, clinical medicine, microbiology, and pharmacology and toxicology, and at a comparable level to immunology research, despite poor levels of funding. Conclusions: Low levels of funding for mental health research appear to be largely attributable to low capacity. Mental health research in Australia is of high quality, and efforts are needed to build capacity. C1 [Christensen, Helen; Batterham, Philip J.] Australian Natl Univ, Mental Hlth Res Ctr, Canberra, ACT, Australia. [Hickie, Ian B.] Univ Sydney, Brain & Mind Res Inst, Sydney, NSW 2006, Australia. [McGorry, Patrick D.] Univ Melbourne, Melbourne, Vic, Australia. [Mitchell, Philip B.] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia. [Kulkarni, Jayashri] Monash Univ, Monash Alfred Psychiat Res Ctr, Melbourne, Vic 3004, Australia. RP Christensen, H (reprint author), Australian Natl Univ, Mental Hlth Res Ctr, Canberra, ACT, Australia. 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J. Aust. PD DEC 5 PY 2011 VL 195 IS 11-12 BP 681 EP 684 DI 10.5694/mja10.11415 PG 4 WC Medicine, General & Internal SC General & Internal Medicine GA 868OZ UT WOS:000298533900022 PM 22171865 ER PT J AU Kroker, KS Rast, G Rosenbrock, H AF Kroker, Katja S. Rast, Georg Rosenbrock, Holger TI Differential effects of subtype-specific nicotinic acetylcholine receptor agonists on early and late hippocampal LTP SO EUROPEAN JOURNAL OF PHARMACOLOGY LA English DT Article DE Nicotinic acetylcholine receptor agonist; alpha 7 nAChR; alpha 4 beta 2 nAChR; LTP; Alzheimer's disease; Hippocampus ID LONG-TERM POTENTIATION; MEDIATED SYNAPTIC-TRANSMISSION; IN-VIVO CHARACTERIZATION; ALZHEIMERS-DISEASE; RAT HIPPOCAMPUS; LATE-PHASE; CHOLINESTERASE-INHIBITORS; DRUG DISCOVERY; CA1 REGION; COGNITIVE IMPROVEMENT AB Brain nicotinic acetylcholine receptors are involved in several neuropsychiatric disorders, e.g. Alzheimer's and Parkinson's diseases, Tourette's syndrome, schizophrenia, depression, autism, attention deficit hyperactivity disorder, and anxiety. Currently, approaches selectively targeting the activation of specific nicotinic acetylcholine receptors are in clinical development for treatment of memory impairment of Alzheimer's disease patients. These are alpha 4 beta 2 and alpha 7 nicotinic acetylcholine receptor agonists which are believed to enhance cholinergic and glutamatergic neurotransmission, respectively. In order to gain a better insight into the mechanistic role of these two nicotinic acetylcholine receptors in learning and memory, we investigated the effects of the alpha 4 beta 2 nicotinic acetylcholine receptor agonist TC-1827 and the alpha 7 nicotinic acetylcholine receptor partial agonist SSR180711 on hippocampal long-term potentiation (LIP), a widely accepted cellular experimental model of memory formation. Generally, LTP is distinguished in an early and a late form, the former being protein-synthesis independent and the latter being protein-synthesis dependent. TC-1827 was found to increase early LTP in a bell-shaped dose dependent manner, but did not affect late LP. In contrast, the alpha 7 nicotinic acetylcholine receptor partial agonist SSR180711 showed enhancing effects on both early and late LTP in a bell-shaped manner. Furthermore, SSR180711 not only increased early LW, but also transformed it into late LTP, which was not observed with the alpha 4 beta 2 nicotinic acetylcholine receptor agonist Therefore, based on these findings alpha 7 nicotinic acetylcholine receptor (partial) agonists appear to exhibit stronger efficacy on memory improvement than alpha 4 beta 2 nicotinic acetylcholine receptor agonists. (C) 2011 Elsevier B.V. All rights reserved. C1 [Kroker, Katja S.; Rosenbrock, Holger] Boehringer Ingelheim Pharma GmbH & Co KG, Dept CNS Dis Res, D-88397 Biberach, Germany. [Rast, Georg] Boehringer Ingelheim Pharma GmbH & Co KG, Dept Drug Discovery Support, D-88397 Biberach, Germany. RP Kroker, KS (reprint author), Boehringer Ingelheim Pharma GmbH & Co KG, Dept CNS Dis Res, Birkendorfer Str 65, D-88397 Biberach, Germany. 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This hypothesis has mainly been supported by family cohort studies and the immunological abnormalities found in ASD patients, but had limited findings in genetic association testing. Two cross-disorder genetic association tests were performed on the genome-wide data sets of ASD and six autoimmune disorders. In the polygenic score test, we examined whether ASD risk alleles with low effect sizes work collectively in specific autoimmune disorders and show significant association statistics. In the genetic variation score test, we tested whether allele-specific associations between ASD and autoimmune disorders can be found using nominally significant single-nucleotide polymorphisms. In both tests, we found that ASD is probabilistically linked to ankylosing spondylitis (AS) and multiple sclerosis (MS). Association coefficients showed that ASD and AS were positively associated, meaning that autism susceptibility alleles may have a similar collective effect in AS. The association coefficients were negative between ASD and MS. Significant associations between ASD and two autoimmune disorders were identified. This genetic association supports the idea that specific immunological abnormalities may underlie the etiology of autism, at least in a number of cases. Translational Psychiatry (2011) 1, e63; doi:10.1038/tp.2011.62; published online 13 December 2011 C1 [Jung, J-Y; Kohane, I. S.; Wall, D. P.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA. [Kohane, I. S.] Childrens Hosp, Informat Program, Boston, MA 02115 USA. [Kohane, I. S.] I2b2 Natl Ctr Biomed Comp, Boston, MA USA. [Wall, D. P.] Beth Israel Deaconess Med Ctr, Dept Pathol, Div Genom Med, Boston, MA 02215 USA. RP Wall, DP (reprint author), Harvard Univ, Sch Med, Ctr Biomed Informat, 10 Shattuck St, Boston, MA 02115 USA. 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Although efforts are underway to establish empirically supported treatments for anxiety among individuals with ASDs, this remains an emerging research area. This literature review summarizes available information on the efficacy of pharmacological and psychosocial approaches for treating anxiety and repetitive behaviors in children, adolescents and adults with ASDs. Specifically, we evaluate evidence for the use of cognitive behavioral therapy and selective serotonin-reuptake inhibitors. Evidence is growing in support of using cognitive behavioral therapy to treat anxiety in youths with ASDs; however, mixed evidence exists for its application in treating repetitive behaviors, as well as the use of selective serotonin-reuptake inhibitors for anxiety in youths with ASDs. We conclude the article with a discussion of the strength of current information and next steps in research. C1 [Sulkowski, Michael L.; Ung, Danielle; Lewin, Adam B.; Murphy, Tanya K.; Storch, Eric A.] Univ S Florida, Dept Pediat, St Petersburg, FL 33701 USA. [Nadeau, Joshua] Univ S Florida, Dept Psychol & Social Fdn, St Petersburg, FL 33701 USA. [Wood, Jeffrey J.] Univ Calif Los Angeles, Dept Educ Psychol, Los Angeles, CA USA. [May, Jill Ehrenreich] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA. RP Storch, EA (reprint author), Univ S Florida, Dept Pediat, 800 6th St S Box 7523, St Petersburg, FL 33701 USA. EM estorch@health.usf.edu RI Storch, Eric/I-4935-2012; Lewin, Adam/A-9832-2013; Murphy, Tanya/J-7079-2013; Nadeau, Joshua/F-1462-2015 OI Nadeau, Joshua/0000-0002-9886-4709 FU National Institute of Child Health and Human Development [1R34HD065274]; All Children's Hospital Research Foundation; University of South Florida Research Foundation FX This article was supported in part by grants to JJ Wood, JE May and EA Starch from the National Institute of Child Health and Human Development (1R34HD065274) and grants to EA Storch from the All Children's Hospital Research Foundation and University of South Florida Research Foundation. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. 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J., 2008, CHILD ANXIETY DISORD Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x Wood JJ, 2009, J AUTISM DEV DISORD, V39, P1608, DOI 10.1007/s10803-009-0791-7 NR 97 TC 6 Z9 6 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 DEC PY 2011 VL 1 IS 6 BP 567 EP 578 DI 10.2217/NPY.11.62 PG 12 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 961DK UT WOS:000305443900010 ER PT J AU Xia, GH Gao, WW Ji, K Liu, SS Wan, B Luo, JF Bai, YF AF Xia, Guihua Gao, Weiwei Ji, Ke Liu, Shaosheng Wan, Bo Luo, Junfeng Bai, Yunfei TI Single Nucleotide Polymorphisms Analysis of Noise-Induced Hearing Loss Using Three-Dimensional Polyacrylamide Gel-Based Microarray Method SO JOURNAL OF BIOMEDICAL NANOTECHNOLOGY LA English DT Article DE Noise Induced Hearing Loss; Single Nucleotide Polymorphism; Microarray ID DUAL-COLOR HYBRIDIZATION; MAGNETIC NANOPARTICLES; EXPOSED POPULATIONS; GENE POLYMORPHISMS; BDNF GENE; ASSOCIATION; AUTISM; ARRAY; RISK AB Noise induced hearing loss (NIHL) is a complex occupational hazard caused by an interaction between genetic and environmental factors. Millions of Chinese industrial people are daily exposed to high level of noise. Although the environmental risk factors have been studied extensively, the nature of the genetic factors contributing to HIHL has not yet been clarified. In this study, we investigated 15 single nucleotide polymorphisms (SNPs) in 6 candidate genes influence susceptibility to noise in Chinese noise-exposed workers. Data from 3-dimensional polyacrylamide gel-based microarray platforms were analyzed. 103 blood samples were collected from noise-exposed laborers in Ningbo, Zhejiang, China. Subsequently, the interaction between noise exposure and genotypes and their effect on NIHL were analysed using logistic regression. Two interesting results were observed between noise exposure levels and genotypes of three SNPs, hence confirming that they are NIHL susceptibility genes in Chinese population. C1 [Xia, Guihua; Gao, Weiwei; Ji, Ke; Liu, Shaosheng; Wan, Bo] Zhejiang Univ, Coll Med, Peoples Hosp Beilun, Dept Otolaryngol,Beilun Branch,Affiliated Hosp 1, Ningbo 315800, Zhejiang, Peoples R China. [Luo, Junfeng] Wuxi Agene Bioinformat & Biotechnol Co Ltd, Wuxi 214135, Peoples R China. [Bai, Yunfei] Southeast Univ, State Key Lab Bioelect, Nanjing 210096, Peoples R China. RP Xia, GH (reprint author), Zhejiang Univ, Coll Med, Peoples Hosp Beilun, Dept Otolaryngol,Beilun Branch,Affiliated Hosp 1, Ningbo 315800, Zhejiang, Peoples R China. FU Medicine and Hygiene Science Research Funds of Zhejiang Province [2009B147]; National Natural Science Foundation [60971021] FX This research was supported by the Medicine and Hygiene Science Research Funds of Zhejiang Province (No. 2009B147) and the National Natural Science Foundation (NO. 60971021). 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Chen, Xi Agrawal, Sunil Galloway, James Cole TI Power Mobility and Socialization in Preschool: Follow-up Case Study of a Child With Cerebral Palsy SO PEDIATRIC PHYSICAL THERAPY LA English DT Article DE assistive devices; cerebral palsy/psychology; cerebral palsy/rehabilitation; child; preschool; humans; male; motor activity/physiology; motor skills/physiology; physical therapy modalities/instrumentation; socialization ID YOUNG DISABLED-CHILDREN; AUTISM; WHEELCHAIRS; EXPERIENCE; WITHDRAWN AB Purpose: Our previous study found it feasible for a preschooler with cerebral palsy (CP) to use a power mobility device in his classroom but noted a lack of typical socialization. The purpose of this follow-up study was to determine the feasibility of providing mobility and socialization training for this child. Methods: Will, a 3-year-old with CP, 1 comparison peer, 2 preschool teachers, and 2 therapists were filmed daily during a training and posttraining phase. Adult-directed training was provided in the classroom by therapists and teachers during the training phase. Mobility and socialization measures were coded from video. Outcomes: During training, Will demonstrated greater socialization but less mobility than the comparison peer. Posttraining, Will socialized less but was more mobile, though less mobile than the comparison peer. Discussion: Short-term, adult-directed power mobility and socialization training appear feasible for the preschool classroom. Important issues regarding socialization and power mobility are discussed. (Pediatr Phys Ther 2011; 23: 399-406) C1 [Ragonesi, Christina B.; Galloway, James Cole] Univ Delaware, Infant Motor Behav Lab, Dept Phys Therapy, Newark, DE 19716 USA. [Ragonesi, Christina B.; Agrawal, Sunil; Galloway, James Cole] Univ Delaware, Biomech & Movement Sci Program, Newark, DE 19716 USA. [Chen, Xi; Agrawal, Sunil] Univ Delaware, Mech Syst Lab, Dept Mech Engn, Newark, DE 19716 USA. 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Freuler, Ashley Lorenzi, Jill TI Differential Associations Between Sensory Response Patterns and Language, Social, and Communication Measures in Children With Autism or Other Developmental Disabilities SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH LA English DT Article DE autism; developmental disorders; language ID YOUNG-CHILDREN; SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW; TYPICAL DEVELOPMENT; EXPERIENCES QUESTIONNAIRE; JOINT ATTENTION; BEHAVIORS; ABNORMALITIES; ABILITIES; SYMPTOMS AB Purpose: To examine patterns of sensory responsiveness (i.e., hyperresponsiveness, hyporesponsiveness, and sensory seeking) as factors that may account for variability in social-communicative symptoms of autism and variability in language, social, and communication skill development in children with autism or other developmental disabilities (DDs). Method: Children with autistic disorder (AD; n = 72, mean age = 52.3 months) and other DDs (n = 44, mean age = 48.1 months) participated in a protocol measuring sensory response patterns; social-communicative symptoms of autism; and language, social, and communication skills. Results: Hyporesponsiveness was positively associated with social-communicative symptom severity, with no significant group difference in the association. Hyperresponsiveness was not significantly associated with social-communicative symptom severity. A group difference emerged for sensory seeking and social-communicative symptom severity, with a positive association for the AD group only. For the 2 groups of children combined, hyporesponsiveness was negatively associated with language skills and social adaptive skills. Sensory seeking also was negatively associated with language skills. These associations did not differ between the 2 groups. 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Light, Janice TI Preliminary Investigation of Visual Attention to Human Figures in Photographs: Potential Considerations for the Design of Aided AAC Visual Scene Displays SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH LA English DT Article DE augmentative and alternative communication; visual scene displays; visual processing; eye-tracking technology ID WILLIAMS-SYNDROME; EYE-MOVEMENTS; AUTISM; DISABILITIES; INDIVIDUALS; CHILDREN; FACES; COMMUNICATION; COMPREHENSION; INFORMATION AB Purpose: Many individuals with complex communication needs may benefit from visual aided augmentative and alternative communication systems. In visual scene displays (VSDs), language concepts are embedded into a photograph of a naturalistic event. Humans play a central role in communication development and might be important elements in VSDs. However, many VSDs omit human figures. In this study, the authors sought to describe the distribution of visual attention to humans in naturalistic scenes as compared with other elements. Method: Nineteen college students observed 8 photographs in which a human figure appeared near 1 or more items that might be expected to compete for visual attention (such as a Christmas tree or a table loaded with food). Eye-tracking technology allowed precise recording of participants' gaze. The fixation duration over a 7-s viewing period and latency to view elements in the photograph were measured. Results: Participants fixated on the human figures more rapidly and for longer than expected based on the size of these figures, regardless of the other elements in the scene. Conclusions: Human figures attract attention in a photograph even when presented alongside other attractive distracters. Results suggest that humans may be a powerful means to attract visual attention to key elements in VSDs. 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TI Autistic Traits Below the Clinical Threshold: Re-examining the Broader Autism Phenotype in the 21st Century SO NEUROPSYCHOLOGY REVIEW LA English DT Review DE Autism; Broader autism phenotype; Social cognition; Phenotypic heterogeneity; Endophenotypes ID PERVASIVE DEVELOPMENTAL DISORDERS; WEAK CENTRAL COHERENCE; COPY-NUMBER VARIATION; SPECTRUM QUOTIENT AQ; ASPERGER-SYNDROME; 1ST-DEGREE RELATIVES; COGNITIVE PHENOTYPE; MULTIPLE-INCIDENCE; FAMILY-HISTORY; PSYCHIATRIC-DISORDERS AB Diagnosis, intervention and support for people with autism can be assisted by research into the aetiology of the condition. Twin and family studies indicate that autism spectrum conditions are highly heritable; genetic relatives of people with autism often show milder expression of traits characteristic for autism, referred to as the Broader Autism Phenotype (BAP). In the past decade, advances in the biological and behavioural sciences have facilitated a more thorough examination of the BAP from multiple levels of analysis. Here, the candidate phenotypic traits delineating the BAP are summarised, including key findings from neuroimaging studies examining the neural substrates of the BAP. We conclude by reviewing the value of further research into the BAP, with an emphasis on deriving heritable endophenotypes which will reliably index autism susceptibility and offer neurodevelopmental mechanisms that bridge the gap between genes and a clinical autism diagnosis. C1 [Sucksmith, E.; Roth, I.; Hoekstra, R. A.] Open Univ, Dept Life Hlth & Chem Sci, Milton Keynes MK7 6AA, Bucks, England. RP Sucksmith, E (reprint author), Open Univ, Dept Life Hlth & Chem Sci, Milton Keynes MK7 6AA, Bucks, England. EM E.Sucksmith@open.ac.uk FU Open University PhD Studentship; Autism Research Centre (ARC) of Cambridge University, UK FX Edward Sucksmith is funded by an Open University PhD Studentship, which is a collaboration with the Autism Research Centre (ARC) of Cambridge University, UK. We gratefully acknowledge Dr Payam Rezaie and Dr Antonio Martins-Mourao for their comments on an earlier draft of the review and colleagues at the ARC, Cambridge for their theoretical guidance. 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PD DEC PY 2011 VL 21 IS 4 BP 360 EP 389 DI 10.1007/s11065-011-9183-9 PG 30 WC Psychology, Clinical; Neurosciences SC Psychology; Neurosciences & Neurology GA 893PB UT WOS:000300366700005 PM 21989834 ER PT J AU Jiao, Y Chen, R Ke, X Cheng, L Chu, K Lu, Z Herskovits, EH AF Jiao, Y. Chen, R. Ke, X. Cheng, L. Chu, K. Lu, Z. Herskovits, E. H. TI Predictive models for subtypes of autism spectrum disorder based on single-nucleotide polymorphisms and magnetic resonance imaging SO ADVANCES IN MEDICAL SCIENCES LA English DT Article DE Autism spectrum disorder; Asperger syndrome; high-functioning autism; single-nucleotide polymorphisms; brain morphometry; diagnostic model ID PENALIZED LOGISTIC-REGRESSION; HIGH-FUNCTIONING AUTISM; RECEPTOR SUBUNIT GENES; SURFACE-BASED ANALYSIS; ASPERGERS SYNDROME; CLASSIFICATION; ASSOCIATION; DISEQUILIBRIUM; DISEASE; GABRB3 AB Purpose: Autism spectrum disorder (ASD) is a neurodevelopmental disorder, of which Asperger syndrome and high-functioning autism are subtypes. Our goal is: 1) to determine whether a diagnostic model based on single-nucleotide polymorphisms (SNPs), brain regional thickness measurements, or brain regional volume measurements can distinguish Asperger syndrome from high-functioning autism; and 2) to compare the SNP, thickness, and volume-based diagnostic models. Material and Methods: Our study included 18 children with ASD: 13 subjects with high-functioning autism and 5 subjects with Asperger syndrome. For each child, we obtained 25 SNPs for 8 ASD-related genes; we also computed regional cortical thicknesses and volumes for 66 brain structures, based on structural magnetic resonance (MR) examination. To generate diagnostic models, we employed five machine-learning techniques: decision stump, alternating decision trees, multi-class alternating decision trees, logistic model trees, and support vector machines. Results: For SNP-based classification, three decision-tree-based models performed better than the other two machine-learning models. The performance metrics for three decision-tree-based models were similar: decision stump was modestly better than the other two methods, with accuracy = 90%, sensitivity = 0.95 and specificity = 0.75. All thickness and volume-based diagnostic models performed poorly. The SNP-based diagnostic models were superior to those based on thickness and volume. For SNP-based classification, rs878960 in GABRB3 (gamma-aminobutyric acid A receptor, beta 3) was selected by all tree-based models. Conclusion: Our analysis demonstrated that SNP-based classification was more accurate than morphometry-based classification in ASD subtype classification. Also, we found that one SNP-rs878960 in GABRB3-distinguishes Asperger syndrome from high-functioning autism. C1 [Jiao, Y.; Ke, X.; Lu, Z.] Southeast Univ, Key Lab Child Dev & Learning Sci, Minist Educ, Nanjing 210096, Jiangsu, Peoples R China. [Jiao, Y.; Cheng, L.; Lu, Z.] Southeast Univ, Sch Biol Sci & Med Engn, State Key Lab Bioelect, Nanjing 210096, Jiangsu, Peoples R China. [Jiao, Y.; Chen, R.; Herskovits, E. H.] Univ Penn, Sch Med, Dept Radiol, Philadelphia, PA 19104 USA. [Ke, X.; Chu, K.] Nanjing Med Univ, Nanjing Brain Hosp, Child Mental Hlth Res Ctr, Nanjing, Jiangsu, Peoples R China. RP Lu, Z (reprint author), Southeast Univ, Key Lab Child Dev & Learning Sci, Minist Educ, Nanjing 210096, Jiangsu, Peoples R China. EM zhlu@seu.edu.cn; ehh@ieee.org RI Lu, Zuhong/A-5448-2013 FU China Scholarship Council [2008101370]; National Natural Science foundation of China [30570655]; Scientific Research Foundation of Graduate School of Southeast University [YBJJ1011]; National Institutes of Health [R01 AG13743, R03 EB009310]; National Institute of Aging; National Institute of Mental Health; National Cancer Institute; Natural Science Foundation of Jiangsu, China [BK2008082] FX Yun Jiao was supported by the China Scholarship Council (Project number 2008101370), the National Natural Science foundation of China (Project number 30570655), and the Scientific Research Foundation of Graduate School of Southeast University (Project number YBJJ1011). Drs. Chen and Herskovits are supported by National Institutes of Health grant R01 AG13743, which is funded by the National Institute of Aging, the National Institute of Mental Health, and the National Cancer Institute. They are also supported by NIH R03 EB009310. Drs. Ke and Chu were supported by the Natural Science Foundation of Jiangsu, China (Project number BK2008082). Drs. Lu and Cheng were supported by the National Natural Science foundation of China (Project number 30570655). The authors declare no conflict of interest. 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G. Katz, David M. TI Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met SO CURRENT OPINION IN NEUROBIOLOGY LA English DT Article ID RECEPTOR TYROSINE KINASE; CPG-BINDING PROTEIN-2; NEUROTROPHIC FACTOR EXPRESSION; AUTISM SPECTRUM DISORDERS; HEPATOCYTE GROWTH-FACTOR; 2/3 PYRAMIDAL NEURONS; RETT-SYNDROME; MOUSE MODEL; CEREBRAL-CORTEX; CIRCUIT ABNORMALITIES AB Recent findings in the genetics of neurodevelopmental syndromes have ushered in an exciting era of discovery in which substrates of neurologic dysfunction are being identified at the synaptic and microcircuit levels in mouse models of these disorders. We review recent progress in this area, focusing on two examples of mouse models of autism spectrum disorders (ASDs): Mecp2 models of Rett syndrome, and a Met-knockout model of non-syndromic forms of autism. In both cases, a dominant theme is changes in synaptic strength, associated with hyper-connectivity or hypo-connectivity in specific microcircuits. Alterations in intrinsic neuronal excitability are also found, but do not appear to be as common. The microcircuit-specific nature of synaptic changes observed in these ASD models indicates that it will be necessary to define mechanisms of circuit dysfunction on a case-by-case basis, not only in neocortex but also in brainstem and other sub-cortical areas. Thus, functional microcircuit analysis is emerging as an important line of investigation, highly complementary to neurogenetic and molecular strategies, and holds promise for generating models of the underlying pathophysiology and for guiding development of novel therapeutic strategies. C1 [Katz, David M.] Case Western Reserve Univ, Sch Med, Dept Neurosci, Cleveland, OH 44106 USA. [Shepherd, Gordon M. G.] Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA. RP Katz, DM (reprint author), Case Western Reserve Univ, Sch Med, Dept Neurosci, Cleveland, OH 44106 USA. EM david.katz@case.edu FU NIH [NS061963, NS057398]; Simons Foundation; International Rett Syndrome Foundation FX We thank Charles Anderson, Pat Levitt, Roberto Galan, and Shenfeng Qiu for useful comments and suggestions. Grant support: NIH (GS: NS061963; DMK: NS057398); Simons Foundation (GS); International Rett Syndrome Foundation (GS and DMK). 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In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advanced our understanding of UBE3A, MECP2, NF1 and FMR1 function, respectively, in genetic, biochemical, anatomical, physiological and behavioral contexts. Investigations in Drosophila continue to provide the essential mechanistic understanding required to facilitate the conception of rational therapeutic treatments. C1 [Broadie, Kendal] Vanderbilt Univ, Kennedy Ctr Res Human Dev, Dept Biol Sci, Nashville, TN 37232 USA. Vanderbilt Univ, Kennedy Ctr Res Human Dev, Dept Cell & Dev Biol, Nashville, TN 37232 USA. RP Broadie, K (reprint author), Vanderbilt Univ, Kennedy Ctr Res Human Dev, Dept Biol Sci, 221 Kirkland Hall, Nashville, TN 37232 USA. 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Opin. Neurobiol. PD DEC PY 2011 VL 21 IS 6 BP 834 EP 841 DI 10.1016/j.conb.2011.04.009 PG 8 WC Neurosciences SC Neurosciences & Neurology GA 887ZC UT WOS:000299972600003 PM 21596554 ER PT J AU Kroger, A Hanig, S Seitz, C Palmason, H Meyer, J Freitag, CM AF Kroeger, Anne Haenig, Susann Seitz, Christiane Palmason, Haukur Meyer, Jobst Freitag, Christine M. TI Risk factors of autistic symptoms in children with ADHD SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE Autism; ADHD; Parental traits; Risk factors; Comorbidity ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT-HYPERACTIVITY DISORDER; PRESCHOOL-CHILDREN; SPECTRUM DISORDERS; FAMILIAL TRAIT; TWIN SAMPLE; QUESTIONNAIRE; PREVALENCE; GENETICS AB Autistic symptoms are frequently observed in children with attention-deficit/hyperactivity disorder (ADHD), but their etiology remains unclear. The main aim of this study was to describe risk factors for increased autistic symptoms in children with ADHD without an autism or autism-spectrum diagnosis. Comorbid psychiatric disorders, developmental delay, current medication, prenatal biological and postnatal psychosocial risk factors as well as parental autistic traits were assessed in 205 children with ADHD. Linear regression models identified maternal autistic traits, current familial risk factors and hyperactive symptoms as predictors of autistic symptoms in children with ADHD. Findings are indicative of possible genetic as well as environmental risk factors mediating autistic symptoms in children with ADHD. An additional validity analysis by ROC, area under the curve (AUC), suggested a cut-off of 11 to differentiate between ADHD and high-functioning ASD by the Social Communication Questionnaire (SCQ). C1 [Kroeger, Anne; Freitag, Christine M.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, Frankfurt, Germany. [Haenig, Susann; Seitz, Christiane] Saarland Univ Hosp, Dept Child & Adolescent Psychiat, Homburg, Germany. [Palmason, Haukur; Meyer, Jobst] Univ Trier, Dept Neurobehav Genet, Trier, Germany. RP Kroger, A (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, Frankfurt, Germany. EM AKroeger@med.uni-frankfurt.de FU Deutsche Forschungsgemeinschaft [ME 1923/5-1, ME 1923/5-3, GRK 1389/1]; Saarland University [T6 03 10 00 - 45] FX We thank the children and parents taking part in this study. This study was supported by the Deutsche Forschungsgemeinschaft (ME 1923/5-1, ME 1923/5-3, GRK 1389/1) and by the Saarland University (T6 03 10 00 - 45). 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TI Psychiatric comorbidities in autism spectrum disorders: findings from a Danish Historic Birth Cohort SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Letter ID CHILDREN; PREVALENCE; RATES C1 [Abdallah, Morsi W.; Mortensen, Erik L.] Univ Copenhagen, Unit Med Psychol, Inst Publ Hlth, DK-1014 Copenhagen K, Denmark. [Abdallah, Morsi W.; Mortensen, Erik L.] Univ Copenhagen, Ctr Hlth Aging, DK-1014 Copenhagen K, Denmark. [Abdallah, Morsi W.] Aarhus Univ, Dept Epidemiol, Sch Publ Hlth, Aarhus, Denmark. [Abdallah, Morsi W.; Norgaard-Pedersen, Bent; Hougaard, David M.] Statens Serum Inst, Dept Clin Biochem & Immunol, DK-2300 Copenhagen, Denmark. [Greaves-Lord, Kirstin] Sophias Childrens Hosp, Dept Child & Adolescent Psychiat, Erasmus MC, Rotterdam, Netherlands. [Greaves-Lord, Kirstin] Yulius Acad, Rotterdam, Netherlands. [Grove, Jakob] Aarhus Univ, Dept Biomed, Fac Hlth Sci, Aarhus, Denmark. [Grove, Jakob] Aarhus Univ, Bioinformat Res Ctr BiRC, Aarhus, Denmark. RP Abdallah, MW (reprint author), Univ Copenhagen, Unit Med Psychol, Inst Publ Hlth, Oster Farimagsgade 5B,CSS 15-0-19,2099, DK-1014 Copenhagen K, Denmark. EM mab@soci.au.dk CR Andersen TF, 1999, DAN MED BULL, V46, P263 Bejerot S, 2003, PSYCHIAT RES, V119, P177, DOI 10.1016/S0165-1781(03)00123-9 de Bruin EI, 2007, J AUTISM DEV DISORD, V37, P877, DOI 10.1007/s10803-006-0215-x Knudsen LB, 1998, DAN MED BULL, V45, P320 Lauritsen MB, 2010, J AUTISM DEV DISORD, V40, P139, DOI 10.1007/s10803-009-0818-0 Leyfer OT, 2006, J AUTISM DEV DISORD, V36, P849, DOI 10.1007/s10803-006-0123-0 Mortensen EL, 2005, BRIT J PSYCHIAT, V187, P407, DOI 10.1192/bjp.187.5.407 Norgaard-Pedersen B, 2005, STATENS SERUM I ETAB Santosh PJ, 2006, EUR CHILD ADOLES PSY, V15, P183, DOI 10.1007/s00787-005-0517-0 Simonoff E, 2008, J AM ACAD CHILD PSY, V47, P921, DOI 10.1097/CHI.0b013e318179964f NR 10 TC 15 Z9 16 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1018-8827 J9 EUR CHILD ADOLES PSY JI Eur. 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PD DEC PY 2011 VL 20 IS 11-12 BP 599 EP 601 DI 10.1007/s00787-011-0220-2 PG 3 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 889PW UT WOS:000300086700009 PM 21971944 ER PT J AU Velan, B AF Velan, Baruch TI Acceptance on the move Public reaction to shifting vaccination realities SO HUMAN VACCINES LA English DT Review DE acceptance; hesitancy; coverage; MMR; HPV; H1N1; varicella ID HUMAN-PAPILLOMAVIRUS VACCINE; H1N1 INFLUENZA VACCINE; OF-THE-LITERATURE; HPV VACCINE; VARICELLA VACCINATION; CHILDHOOD VACCINATION; PARENTAL ATTITUDES; MMR VACCINATION; DEVELOPED-COUNTRIES; TELEPHONE SURVEY AB This review examines four events related to vaccination that have occurred in recent years: (1) the ongoing recovery from the MMR/autism scare in the UK, (2) the upgrading of the varicella vaccine to a universal childhood vaccine, (3) the major effort of authorities to provide a vaccine for A/H1N1 influenza and its rejection by the public and (4) the current attempts to change the HPV vaccine target from girls only to boys and girls. All of these changes have been met with shifts in the public acceptance of the relevant vaccine. These shifts are characterized not only by the number of people willing to be vaccinated, but also by the attitudes and the motives related to acceptance. Examination of the interrelationship between changes in vaccination realities, and changes in acceptance patterns suggests that today, the public has a better understanding of vaccination, is acting in a more reflexive way, and is capable of changing attitudes and behavior. All together, changes in vaccination enhance debates and dialogs about vaccines, and lead to higher awareness and more conscious acceptance. C1 Gertner Inst Epidemiol & Hlth Policy Res, Tel Hashomer, Israel. RP Velan, B (reprint author), Gertner Inst Epidemiol & Hlth Policy Res, Tel Hashomer, Israel. 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Vaccines PD DEC PY 2011 VL 7 IS 12 BP 1261 EP 1270 DI 10.4161/hv.7.12.17980 PG 10 WC Biotechnology & Applied Microbiology; Immunology SC Biotechnology & Applied Microbiology; Immunology GA 885NA UT WOS:000299784500012 PM 22108039 ER PT J AU Calahorro, F Ruiz-Rubio, M AF Calahorro, Fernando Ruiz-Rubio, Manuel TI Caenorhabditis elegans as an experimental tool for the study of complex neurological diseases: Parkinson's disease, Alzheimer's disease and autism spectrum disorder SO INVERTEBRATE NEUROSCIENCE LA English DT Review DE Caenorhabditis elegans; Parkinson's disease; Alzheimer's disease; Autism spectrum disorder ID BETA-AMYLOID PEPTIDE; RECESSIVE JUVENILE PARKINSONISM; UNFOLDED PROTEIN RESPONSE; TAU-INDUCED NEUROTOXICITY; ALPHA-SYNUCLEIN; C-ELEGANS; DOPAMINERGIC-NEURONS; GENETIC INTERFERENCE; MENTAL-RETARDATION; PRECURSOR PROTEIN AB The nematode Caenorhabditis elegans has a very well-defined and genetically tractable nervous system which offers an effective model to explore basic mechanistic pathways that might be underpin complex human neurological diseases. Here, the role C. elegans is playing in understanding two neurodegenerative conditions, Parkinson's and Alzheimer's disease (AD), and a complex neurological condition, autism, is used as an exemplar of the utility of this model system. C. elegans is an imperfect model of Parkinson's disease because it lacks orthologues of the human disease-related genes PARK1 and LRRK2 which are linked to the autosomal dominant form of this disease. Despite this fact, the nematode is a good model because it allows transgenic expression of these human genes and the study of the impact on dopaminergic neurons in several genetic backgrounds and environmental conditions. For AD, C. elegans has orthologues of the amyloid precursor protein and both human presenilins, PS1 and PS2. In addition, many of the neurotoxic properties linked with A beta amyloid and tau peptides can be studied in the nematode. Autism spectrum disorder is a complex neuro-developmental disorder characterised by impairments in human social interaction, difficulties in communication, and restrictive and repetitive behaviours. Establishing C. elegans as a model for this complex behavioural disorder is difficult; however, abnormalities in neuronal synaptic communication are implicated in the aetiology of the disorder. Numerous studies have associated autism with mutations in several genes involved in excitatory and inhibitory synapses in the mammalian brain, including neuroligin, neurexin and shank, for which there are C. elegans orthologues. Thus, several molecular pathways and behavioural phenotypes in C. elegans have been related to autism. In general, the nematode offers a series of advantages that combined with knowledge from other animal models and human research, provides a powerful complementary experimental approach for understanding the molecular mechanisms and underlying aetiology of complex neurological diseases. C1 [Calahorro, Fernando; Ruiz-Rubio, Manuel] Univ Cordoba, Dept Genet, E-14071 Cordoba, Spain. [Calahorro, Fernando; Ruiz-Rubio, Manuel] Inst Maimonides Invest Biomed Cordoba IMIBIC, Cordoba 14071, Spain. RP Ruiz-Rubio, M (reprint author), Univ Cordoba, Dept Genet, Edificio Gregor Mendel,Campus Rabanales, E-14071 Cordoba, Spain. EM ge1rurum@uco.es RI Calahorro, Fernando/H-3294-2013 FU Consejeria de Salud, Junta de Andalucia [PI0197] FX We thank Prof. Lindy M. Holden-Dye for critical reading of the manuscript and for detailed comments. We also are grateful to Dr. Antonio Miranda-Vizuete for his help with the DiI dye-filling assay and valuable support. This work was supported by grant PI0197, Consejeria de Salud, Junta de Andalucia. 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PD DEC PY 2011 VL 23 IS 6 BP 515 EP 526 DI 10.1007/s10882-011-9242-4 PG 12 WC Rehabilitation SC Rehabilitation GA 890TG UT WOS:000300167500004 ER PT J AU Chang, YJ Lee, MY Chou, LD Chen, SF Chen, YC AF Chang, Yao-Jen Lee, Ming-Yang Chou, Li-Der Chen, Shu-Fang Chen, Yi-Chien TI A Mobile Wetness Detection System Enabling Teachers to Toilet Train Children with Intellectual Disabilities in a Public School Setting SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Toilet training; Intellectual disabilities; Wetness alarm ID QUALITY-OF-LIFE; MENTAL-RETARDATION; AUTISM; PEOPLE AB This study assessed the possibility of toilet training a 9 year old boy with multiple disabilities using ZigBee based wetness sensor technology and a positive reinforcement strategy. This study was carried out according to an ABAB sequence in which A represented the baseline and B represented intervention phases. 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TI Phenomenology of Comorbid Autism Spectrum and Obsessive-Compulsive Disorders Among Children SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Obsessive-compulsive disorder; Autism; Autism spectrum disorder; Comorbidity; Children; Asperger syndrome; OCD ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; COGNITIVE-BEHAVIORAL THERAPY; ASPERGER-SYNDROME; CONTROLLED-TRIAL; ANXIETY DISORDERS; PSYCHIATRIC-DISORDERS; REPETITIVE BEHAVIOR; INTERVIEW SCHEDULE; PARENT VERSIONS AB The occurrence of obsessive-compulsive disorder (OCD) in youth with autism spectrum disorders (ASD) is common (37% prevalence or higher) and results in additional distress and impairment. The phenomenology of OCD in youth with ASD is under-researched to date. This study compared the clinical characteristics of youth with comorbid ASD and OCD (ASD + OCD) with age and gender matched controls with OCD in 70 youth (7-13 years old). Youth with both syndromes did not present with more severe OCD symptoms. Obsessive-compulsive symptom severity and total number of obsessions and compulsions between the ASD + OCD group and the OCD group did not differ statistically. However, group differences in reports of specific OCD symptoms as well as patterns of comorbidity were identified. Attention deficit/hyperactivity symptoms, social phobia, and separation anxiety disorder were more common among youth with ASD + OCD. Better understanding of OCD/ASD co-morbidity may facilitate treatment development. C1 [Lewin, Adam B.; Gunderson, Sarah; Murphy, Tanya K.; Storch, Eric A.] Univ S Florida, Coll Med, Rothman Ctr Neuropsychiat, Dept Pediat, St Petersburg, FL 33701 USA. [Wood, Jeffrey J.] Univ Calif Los Angeles, Sch Educ & Informat Studies, Los Angeles, CA USA. RP Lewin, AB (reprint author), Univ S Florida, Coll Med, Rothman Ctr Neuropsychiat, Dept Pediat, 800 6th St S Box 7523,4th Floor N, St Petersburg, FL 33701 USA. 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Child, Stephanie N. Parenteau, Rebecca TI Effects of Protective Equipment on Frequency and Intensity of Aggression-Provoked Staff Injury SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Autism; Aggressive behavior; Injury prevention; Protective equipment ID INTELLECTUAL DISABILITIES; CHALLENGING BEHAVIORS; SELF-INJURY; TOPOGRAPHIES; RESTRAINT; PEOPLE AB We evaluated the effects of protective equipment on arm and scalp injuries caused by aggressive behavior in a child with autism. During intervention phases in a multiple baseline design, teachers wore arm guards and baseball caps. Wearing the protective equipment reduced the frequency and intensity of arm and scalp injuries. Overall daily frequency of aggression also decreased across baseline and intervention phases. The clinical implications of wearing protective equipment for injury prevention and reduction are discussed. C1 [Urban, Kelly D.; Luiselli, James K.; Child, Stephanie N.; Parenteau, Rebecca] May Inst, Randolph, MA 02368 USA. RP Urban, KD (reprint author), May Inst, 41 Pacella Pk Dr, Randolph, MA 02368 USA. EM kelly.urban@childrens.harvard.edu; jluiselli@mayinstittue.org CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT HILL J, 1987, MENT RETARD, V25, P141 IWATA BA, 1990, J APPL BEHAV ANAL, V23, P99, DOI 10.1901/jaba.1990.23-99 Lowe K, 2007, J INTELL DISABIL RES, V51, P625, DOI 10.1111/j.1365-2788.2006.00948.x Luiselli J. 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PD DEC PY 2011 VL 23 IS 6 BP 555 EP 562 DI 10.1007/s10882-011-9248-y PG 8 WC Rehabilitation SC Rehabilitation GA 890TG UT WOS:000300167500008 ER PT J AU Obrusnikova, I Dillon, SR AF Obrusnikova, Iva Dillon, Suzanna Rocco TI Validation of the Inventory of Teaching Challenges for Inclusive Physical Education: Autism Spectrum Disorders SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Autism; Physical education; Scale development; Teaching challenges; Teachers ID PERVASIVE DEVELOPMENTAL DISORDERS; INITIAL VALIDATION; CONTENT VALIDITY; CHILDREN; PERFORMANCE; COMPETENCE; SURE AB The study developed and provided evidence of content validity, internal consistency, and factor structure of the Inventory of Teaching Challenges for Inclusive Physical Education (ITC-IPE) with children with autism spectrum disorders. Content validity of the ITC-IPE was established by seven content experts. 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However, the investigation of procedural imitation is more complex than that of bodily imitation. The procedural imitation tasks of the PIPS mainly consisted of unusual acts upon objects (for example, switching on a lamp in a toy animal with the forehead). This study assessed the suitability of these tasks by ruling out nonimitative learning in 15 typically developing children between 12 and 55 mo. of age (6 girls, 9 boys). Results indicated that the tasks seem novel and unlikely to be performed spontaneously by the children. In addition, the number of target acts performed by the children in the imitation condition was significantly higher than in the baseline, investigator-manipulation, and imitation-enhancement nonimitative control conditions. Finally, the tasks elicited more frequently imitative behaviour than end-state emulation. Therefore, the tasks appear appropriate to measure procedural imitation, and the findings support the theoretical validity of the PIPS. C1 [Vanvuchelen, Marleen] PHL Univ Coll, Dept Hlth Care, Hasselt, Belgium. [Vanvuchelen, Marleen; de Weerdt, Willy] Katholieke Univ Leuven, Dept Rehabil Sci, Louvain, Belgium. [Vanvuchelen, Marleen] VUB, Dept Rehabil Sci, Brussels, Belgium. [Roeyers, Herbert] Univ Ghent, Res Grp Dev Disorders, Ghent, Belgium. RP Vanvuchelen, M (reprint author), Sterrebos 111, B-3512 Stevoort, Belgium. 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Skills PD DEC PY 2011 VL 113 IS 3 BP 773 EP 792 DI 10.2466/10.11.22.PMS.113.6.773-792 PG 20 WC Psychology, Experimental SC Psychology GA 885BY UT WOS:000299754700008 PM 22403923 ER PT J AU Bakare, MO Munir, KM AF Bakare, Muideen O. Munir, Kerim M. TI Excess of non-verbal cases of autism spectrum disorders presenting to orthodox clinical practice in Africa a trend possibly resulting from late diagnosis and intervention SO SOUTH AFRICAN JOURNAL OF PSYCHIATRY LA English DT Article ID MENTAL-HEALTH-SERVICES; CHILDHOOD AUTISM; KNOWLEDGE; NIGERIA AB Objectives. Characteristics of children with autism spectrum disorders (ASDs) in Africa are not known because of unavailability of large-scale epidemiological studies in this region. This review explored the age at first presentation to orthodox clinical practice of African children with ASDs and their expressive language ability at presentation. Methods. A literature search of case series and case reports of ASDs from Africa was done through PubMed/MEDLINE, Google Scholar, African Journals Online (AJOL), and archives of the Nigerian Journal of Psychiatry. Six articles included content relating to age of the child at first presentation to orthodox clinical practice and symptoms at presentation related to expressive language ability and therefore fulfilled the inclusion criteria. Suggestions are made to explain the observations emanating from the review. Results. An excess of non-verbal over verbal cases of ASDs have been presenting to orthodox clinical practice and there is a common denominator of late presentation/diagnosis and in turn late intervention, with most cases presenting for the first time well above 8 years of age. Attempts to explain these observations included low levels of knowledge and awareness about ASDs in Africa; problems with help-seeking behaviour; and lack of mental healthcare facilities and trained personnel. Conclusions. Enhancement of processes directed at ensuring early diagnosis and interventions, especially interventions aimed at improving speech and language development well and sufficiently early, may bring about a shift in the trend of excess non-verbal cases of ASDs over verbal cases presenting to orthodox clinical practice. C1 [Bakare, Muideen O.] Fed Neuropsychiat Hosp, Child & Adolescent Unit, New Haven, Enugu, Nigeria. [Munir, Kerim M.] Childrens Hosp, UCEDD, Div Dev Med, Boston, MA 02115 USA. [Munir, Kerim M.] Harvard Univ, Sch Med, Boston, MA USA. RP Bakare, MO (reprint author), Fed Neuropsychiat Hosp, Child & Adolescent Unit, New Haven, Enugu, Nigeria. RI Munir, Kerim/D-6910-2015 OI Munir, Kerim/0000-0002-2404-1806 FU Fogarty International Center/NIH at the Children's Hospital, Boston, Harvard Medical School [D43 TW0005807] FX This work was supported in part by the Fogarty International Center/NIH Mental Health & Developmental Disabilities (MH/DD) Program at the Children's Hospital, Boston, Harvard Medical School (grant award no. D43 TW0005807, PI: K. Munir). CR African Network for Prevention and Protection against Child abuse and Neglect (ANPPCAN), 2007, COMM PROJ INCR LEV A Bakare MO, 2009, BMC PEDIATR, V9, DOI 10.1186/1471-2431-9-12 Bakare Muideen O, 2008, J Med Case Rep, V2, P56, DOI 10.1186/1752-1947-2-56 Bakare MO., 2007, EMBRACING IDENTITY N Bakare Muideen O, 2008, Clin Pract Epidemiol Ment Health, V4, P17, DOI 10.1186/1745-0179-4-17 Bakare Muideen Owolabi, 2009, Ann Gen Psychiatry, V8, P6, DOI 10.1186/1744-859X-8-6 Belfer ML, 2008, J CHILD PSYCHOL PSYC, V49, P226, DOI 10.1111/j.1469-7610.2007.01855.x Belhadj Ahlem, 2006, Tunis Med, V84, P763 Bello-Mojeed MA, 2010, NIGERIAN J PSYCHIAT, V9, P31 Dhadphale M, 1982, Indian J Pediatr, V49, P145 Igwe Monday N, 2011, Child Adolesc Psychiatry Ment Health, V5, P1, DOI 10.1186/1753-2000-5-1 Igwe MN, 2010, ITAL J PEDIATR, V36, DOI 10.1186/1824-7288-36-44 Kleintjes S, 2010, AFR J PSYCHIATRY, V13, P132 Mankoski RE, 2006, J AUTISM DEV DISORD, V36, P1039, DOI 10.1007/s10803-006-0143-9 Njenga F., AUTISM AFRICA CHALLE Omigbodun O, 2008, INT REV PSYCHIATR, V20, P225, DOI 10.1080/09540260802069276 Onuora AN., 1992, NIGERIAN J PSYCHIAT, V1, P169 Robinson EB, 2011, J AM ACAD CHILD PSY, V50, P376, DOI 10.1016/j.jaac.2011.01.005 NR 18 TC 3 Z9 4 PU SA MEDICAL ASSOC HEALTH & MEDICAL PUBL GROUP PI CLAREMONT PA 21 DREYER ST, 4TH FLOOR, SANCLARE BLDG, CLAREMONT, 7700, SOUTH AFRICA SN 1608-9685 J9 SAJP-S AFR J PSYCHI JI SAJP PD DEC PY 2011 VL 17 IS 4 BP 118 EP 120 PG 3 WC Psychiatry SC Psychiatry GA 888WP UT WOS:000300035600006 ER PT J AU [Anonymous] AF [Anonymous] TI Low Birthweight Could Contribute to Autism SO JOURNAL OF PSYCHOSOCIAL NURSING AND MENTAL HEALTH SERVICES LA English DT News Item CR [Anonymous], 2011, LOW BIRTHWEIGHT INFA NR 1 TC 0 Z9 0 PU SLACK INC PI THOROFARE PA 6900 GROVE RD, THOROFARE, NJ 08086 USA SN 0279-3695 J9 J PSYCHOSOC NURS MEN JI J. Psychosoc. Nurs. Ment. Health Serv. PD DEC PY 2011 VL 49 IS 12 BP 8 EP 8 PG 1 WC Nursing SC Nursing GA 884XG UT WOS:000299741600002 ER PT J AU Kern, JK Geier, DA Adams, JB Garver, CR Audhya, T Geier, MR AF Kern, Janet K. Geier, David A. Adams, James B. Garver, Carolyn R. Audhya, Tapan Geier, Mark R. TI A clinical trial of glutathione supplementation in autism spectrum disorders SO MEDICAL SCIENCE MONITOR LA English DT Article DE autism; glutathione; transsulfuration metabolites; oral; transdermal ID INTRAVENOUS GLUTATHIONE; PLASMA; BIOMARKERS AB Background: Recent evidence shows that subjects diagnosed with an autism spectrum disorder (ASD) have significantly lower levels of glutathione than typically developing children. The purpose of this study was to examine the use of two commonly used glutathione supplements in subjects diagnosed with an ASD to determine their efficacy in increasing blood glutathione levels in subjects diagnosed with an ASD. Material/Methods: The study was an eight-week, open-label trial using oral lipoceutical glutathione (n=13) or transdermal glutathione (n=13) in children, 3-13 years of age, with a diagnosis of an ASD. Subjects underwent pre- and post-treatment tab testing to evaluate plasma reduced glutathione, oxidized glutathione, cysteine, taurine, free and total sulfate, and whole-blood glutathione levels. Results: The oral treatment group showed significant increases in plasma reduced glutathione, but not whole-blood glutathione levels following supplementation. Both the oral and transdermal treatment groups showed significant increases in plasma sulfate, cysteine, and taurine following supplementation. Conclusions: The results suggest that oral and transdermal glutathione supplementation may have some benefit in improving some of the transsulfuration metabolites. Future studies among subjects diagnosed with an ASD should further explore the pharmacokinetics of glutathione supplementation and evaluate the potential effects of glutathione supplementation upon clinical symptoms. C1 [Kern, Janet K.] Genet Consultants Dallas, Allen, TX USA. [Kern, Janet K.; Garver, Carolyn R.] Autism Treatment Ctr, Dallas, TX USA. [Kern, Janet K.] Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA. [Geier, David A.] CoMeD Inc, Silver Spring, MD USA. [Geier, David A.] Inst Chron Illnesses Inc, Silver Spring, MD USA. [Adams, James B.] Arizona State Univ, Tempe, AZ USA. [Audhya, Tapan] Vitamin Diagnost, Cliffwood Beach, NJ USA. [Geier, Mark R.] ASD Ctr LLC, Silver Spring, MD USA. RP Geier, MR (reprint author), 14 Redgate Ct, Silver Spring, MD 20905 USA. EM mgeier@comcast.net FU Autism Research Institute; CoMeD, Inc.; non-profit Institute of Chronic Illnesses, Inc. through Brenen Hornstein Autism Research & Education (BHARE) Foundation FX The research was conducted at the Autism Treatment Center, Dallas, Texas, USA. This research was funded by a grant from the Autism Research Institute, non-profit CoMeD, Inc., and by the non-profit Institute of Chronic Illnesses, Inc. through a grant from the Brenen Hornstein Autism Research & Education (BHARE) Foundation CR AEBI S, 1991, EUR J CLIN INVEST, V21, P103, DOI 10.1111/j.1365-2362.1991.tb01366.x Baruchel S., 1998, OXIDATIVE STRESS CAN, P447 Fukagawa NK, 1996, AM J PHYSIOL-ENDOC M, V270, pE209 Geier DA, 2009, J NEUROL SCI, V280, P101, DOI 10.1016/j.jns.2008.08.021 Geier DA, 2009, NEUROCHEM RES, V34, P386, DOI 10.1007/s11064-008-9782-x Gutman J., 2002, GLUTATHIONE YOUR BOD HAGEN TM, 1990, AM J PHYSIOL, V259, pG524 James J., 2004, AM J CLIN NUTR, V80, P1611 James SJ, 2006, AM J MED GENET B, V141B, P947, DOI 10.1002/ajmg.b.30366 Kipp A, 2007, BIOL CHEM, V388, P1027, DOI 10.1515/BC.2007.137 Millman AC, 2008, J INTERF CYTOK RES, V28, P153, DOI 10.1089/jir.2007.0095 MORISKY DE, 1986, MED CARE, V24, P67, DOI 10.1097/00005650-198601000-00007 SCHOPLER E, 1980, J AUTISM DEV DISORD, V10, P91, DOI 10.1007/BF02408436 Schopler E., 1994, CHILDHOOD AUTISM RAT Sen CK, 1997, NUTR BIOCH, V8, P660, DOI DOI 10.1016/S0955-2863(97)00113-7 Wisniewski Stephen R, 2006, J Psychiatr Pract, V12, P71, DOI 10.1097/00131746-200603000-00002 WITSCHI A, 1992, EUR J CLIN PHARMACOL, V43, P667, DOI 10.1007/BF02284971 NR 17 TC 8 Z9 8 PU INT SCIENTIFIC LITERATURE, INC PI SMITHTOWN PA 361 FOREST LANE, SMITHTOWN, NY 11787 USA SN 1234-1010 J9 MED SCI MONITOR JI Med. Sci. Monitor PD DEC PY 2011 VL 17 IS 12 BP CR677 EP CR682 PG 6 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 883CK UT WOS:000299610000008 PM 22129897 ER PT J AU Rosas, SC AF Rosas, Silvia Cristina TI Disorders in the spectrum of autism SO REVISTA LATINOAMERICANA DE PSICOPATOLOGIA FUNDAMENTAL LA Portuguese DT Book Review EM td@memnon.com.br CR ROSAS SC, DISORDERS SPECTRUM A NR 1 TC 0 Z9 0 PU ASSOC UNIV PEQUISA PSICOPATOLOGIA FUNDAMENTAL PI SAO PAOLO SP PA RUA TUPI, 397-10- CJ 104, SAO PAOLO SP, 01233-001, BRAZIL SN 1415-4714 J9 REV LATINOAM PSICOPA JI Rev. Latinoam. Psicopatol. Funda. PD DEC PY 2011 VL 14 IS 4 BP 772 EP 774 PG 3 WC Psychology, Multidisciplinary SC Psychology GA 882XU UT WOS:000299598000014 ER PT J AU Tabor, HK Brazg, T Crouch, J Namey, EE Fullerton, SM Beskow, LM Wilfond, BS AF Tabor, Holly K. Brazg, Tracy Crouch, Julia Namey, Emily E. Fullerton, Stephanie M. Beskow, Laura M. Wilfond, Benjamin S. TI PARENT PERSPECTIVES ON PEDIATRIC GENETIC RESEARCH AND IMPLICATIONS FOR GENOTYPE-DRIVEN RESEARCH RECRUITMENT SO JOURNAL OF EMPIRICAL RESEARCH ON HUMAN RESEARCH ETHICS LA English DT Article DE informed consent; recruitment; risk; benefit; genotype-driven; autism; diabetes; ethics ID ETHICAL-ISSUES; SUSCEPTIBILITY RESEARCH; RESEARCH PARTICIPANTS; INFORMED-CONSENT; CHILDREN; MINORS; GUIDELINES; BIOBANKS; SAMPLES; BLOOD AB AS GENETIC RESEARCH IS INCREASINGLY conducted in children, it is important to understand how parents make decisions about enrolling their children and what they think about receiving their children's genetic research results. We conducted semi-structured phone interviews with 23 parents of children enrolled in genetic studies of autism or diabetes. Qualitative thematic analysis focused on two important components of genetic research and genotype-driven recruitment: participation in genetic research and return of results. Our findings suggest that parents' preferences and perspectives may be specific to their child's disease and the needs of the family as a whole. Assessing the expectations of target research populations will be beneficial for developing best practices for pediatric genetic research, return of results, and genotype-driven recruitment. C1 [Tabor, Holly K.; Wilfond, Benjamin S.] Univ Washington, Seattle Childrens Res Inst, Dept Pediat, Div Bioeth,Sch Med, Seattle, WA 98195 USA. [Brazg, Tracy; Crouch, Julia] Seattle Childrens Res Inst, Seattle, WA USA. [Namey, Emily E.] Duke Univ, Med Ctr, Inst Genome Sci & Policy, Durham, NC 27706 USA. [Namey, Emily E.] Duke Univ, Med Ctr, Dept Obstet & Gynecol, Durham, NC 27706 USA. [Wilfond, Benjamin S.] Univ Washington, Dept Bioeth & Humanities, Seattle, WA 98195 USA. RP Tabor, HK (reprint author), Univ Washington, Seattle Childrens Res Inst, Dept Pediat, Div Bioeth,Sch Med, Seattle, WA 98195 USA. FU NIH-NHGRI [RC-HG005787]; NIH-NCRR [1UL1 RR 025014-05] FX We would like to thank the principal investigators and research staff of the three original studies: Raphael Bernier and Elizabeth Bliss from SAGE; Clara LaJonchere, Janet Miller, and Ryan Butler from AGRE; and Catherine Pihoker, Lisa Gilliam, and Susan Kearns from SEARCH. We would also like to thank Kaiti Carpenter and Mitzi Murray for assistance in conducting many of the study interviews. We would like to thank Jean Cadigan, Marsha Michie, and Gail Henderson for their work on the cross-site collaborative coding and for feedback on the manuscript. We are grateful to Alexandra Cooper and Dan Nelson for their roles in the development and execution of the larger research study. We would also like to express our gratitude for the time and willingness of the 23 parents who participated in our study. We acknowledge funding from NIH-NHGRI RC-HG005787 and NIH-NCRR 1UL1 RR 025014-05. 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Empir. Res. Hum. Res. Ethics PD DEC PY 2011 VL 6 IS 4 BP 41 EP 52 DI 10.1525/jer.2011.6.4.41 PG 12 WC Ethics; Medical Ethics SC Social Sciences - Other Topics; Medical Ethics GA 883RQ UT WOS:000299652300005 PM 22228059 ER PT J AU Yamada, Y Yoshida, F Hemmi, H Ito, M Kakita, H Yoshikawa, T Hishida, M Iguchi, T Seo, T Nakanishi, K AF Yamada, Yasumasa Yoshida, Futoshi Hemmi, Hayato Ito, Miharu Kakita, Hiroki Yoshikawa, Toru Hishida, Manabu Iguchi, Toshiyuki Seo, Tomoko Nakanishi, Keiko TI Atypical social development in neonatal intensive care unit survivors at 12 months SO PEDIATRICS INTERNATIONAL LA English DT Article DE autism; development; Modified Checklist for Autism in Toddlers; neonatal intensive care unit; social communication ID LOW-BIRTH-WEIGHT; AUTISM SPECTRUM DISORDERS; MODIFIED CHECKLIST; PRETERM INFANTS; RISK-FACTORS; CHILDREN; PREVALENCE; TODDLERS; AGE AB Background: Owing to advances in neonatal intensive care, many infants who are hospitalized in neonatal intensive care units (NICU) can survive and grow, and are referred to as NICU survivors. However, social development in NICU survivors has not been fully explored. Methods: To examine the social development of NICU survivors, a questionnaire consisting of the Modified Checklist for Autism in Toddlers (M-CHAT) was used. The M-CHAT was completed by the parents of either NICU survivors (n = 117) or normally delivered children (control group, n = 112) during their regular medical checkups at a corrected age of 12 months. Results: Ninety percent of NICU survivors and 63% of control children did not pass the M-CHAT screen. As it was originally designed for children aged 18-30 months, failed M-CHAT items could have been due to developmental issues and not due to autistic spectrum disorders. However, there was a significant difference in the total number of items failed between the two groups. In particular, many NICU survivors did not pass on M-CHAT items, such as oversensitivity to noise, unusual finger movements, and attempts to attract attention. Concerning perinatal complications, infants with low birthweight and/ or the need for respiratory support tended to have a higher number of failures on all M-CHAT items. Conclusions: NICU survivors may have distinct developmental patterns of social communication, and should be followed up for assessment of social skills and neurological development. C1 [Yamada, Yasumasa; Hemmi, Hayato; Ito, Miharu; Kakita, Hiroki] Cent Hosp Kasugai, Dept Neonatol, Aichi Human Serv Ctr, Kasugai, Aichi 4800392, Japan. [Yoshida, Futoshi] Cent Hosp Kasugai, Dept Internal Med, Kasugai, Aichi 4800392, Japan. [Yoshikawa, Toru; Hishida, Manabu] Cent Hosp Kasugai, Dept Child Psychiat, Kasugai, Aichi 4800392, Japan. [Nakanishi, Keiko] Aichi Human Serv Ctr, Inst Dev Res, Dept Perinatol, Kasugai, Aichi 4800392, Japan. [Iguchi, Toshiyuki; Seo, Tomoko] Hoshigaoka Matern Hosp, Dept Pediat, Nagoya, Aichi, Japan. RP Yamada, Y (reprint author), Cent Hosp Kasugai, Dept Neonatol, Aichi Human Serv Ctr, 713-8 Kamiya Cho, Kasugai, Aichi 4800392, Japan. 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C1 Univ Pittsburgh, Dept Hist & Philosophy Sci, Pittsburgh, PA 15260 USA. RP Adams, MP (reprint author), Univ Pittsburgh, Dept Hist & Philosophy Sci, 1017 Cathedral Learning, Pittsburgh, PA 15260 USA. 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Sci. PD DEC PY 2011 VL 78 IS 5 BP 763 EP 773 DI 10.1086/662269 PG 11 WC History & Philosophy Of Science SC History & Philosophy of Science GA 877RM UT WOS:000299199600006 ER PT J AU Bode, MK Mattila, ML Kiviniemi, V Rahko, J Moilanen, I Ebeling, H Tervonen, O Nikkinen, J AF Bode, Michaela K. Mattila, Marja-Leena Kiviniemi, Vesa Rahko, Jukka Moilanen, Irma Ebeling, Hanna Tervonen, Osmo Nikkinen, Juha TI White matter in autism spectrum disorders - evidence of impaired fiber formation SO ACTA RADIOLOGICA LA English DT Article DE CNS; MR diffusion; brain; autism spectrum disorder; DTI; TBSS ID HIGH-FUNCTIONING AUTISM; SUBJECT DIFFUSION DATA; SCHOOL-AGE-CHILDREN; ASPERGER-SYNDROME; SPATIAL-STATISTICS; CORPUS-CALLOSUM; VOXELWISE ANALYSIS; WORKING-MEMORY; HEAD GROWTH; TENSOR AB Background: Diffusion tensor imaging (DTI) enables measurements and visualization of the microstructure of neural fiber tracts. The existing literature on autism spectrum disorders (ASDs) and DTI is heterogenous both regarding methodology and results. Purpose: To compare brain white matter of high-functioning individuals with ASDs and controls. Material and Methods: Tract-based spatial statistics (TBSS), a voxel-based approach to DTI, was used to compare 27 subjects with ASDs (mean age 14.7 years, range 11.4-17.6 years, 20 boys, 7 girls) and 26 control subjects (mean age 14.5 years, range 11.7-17.3 years, 17 boys, 9 girls). Mean fractional anisotropy (FA) image (skeleton) was created and each subject's aligned FA data were then projected onto this skeleton. Voxelwise cross-subject statistics on the skeletonized FA data, mean diffusivity (MD), and measures of diffusion direction were calculated. Importantly, the data were corrected across the whole image instead of using ROI-based methods. Results: The ASD group showed significantly greater FA (P < 0.05, corrected) in the area containing clusters of optic radiation and the right inferior fronto-occipital fasciculus (iFOF). In the same area, lambda(3) (representing transverse diffusion) was significantly reduced in the ASD group. No age-related changes were found. Conclusion: The results suggest that the reduced transverse diffusion within the iFOF is related to abnormal information flow between the insular salience processing areas and occipital visual areas. C1 [Bode, Michaela K.; Kiviniemi, Vesa; Tervonen, Osmo; Nikkinen, Juha] Oulu Univ Hosp, Dept Diagnost Radiol, Oulu, Finland. [Mattila, Marja-Leena; Rahko, Jukka; Moilanen, Irma; Ebeling, Hanna] Oulu Univ Hosp, Clin Child Psychiat, Oulu, Finland. RP Bode, MK (reprint author), Oulu Univ Hosp, Dept Diagnost Radiol, Oulu, Finland. EM Michaela.Bode@fimnet.fi FU Academy of Finland [111711, 123772]; Medical Foundation; National Alliance for Autism Research (NAAR); Alma and K. A. Snellman Foundation, Oulu, Finland; Rinnekoti Research Foundation, Espoo, Finland; Child Psychiatric Research Foundation, Finland; Emil Aaltonen Foundation, Finland; Northern Ostrobothnia Hospital District; Sigrid Juselius Foundation, Finland; Thule Institute of the University of Oulu, Finland; Lundbeck's Foundation, Turku, Finland; Graduate School of Circumpolar Well-being, Health, and Adaptation FX We thank the participants and their parents, who gave their time in this study. Academy of Finland Grants 111711 and 123772 and Medical Foundation Grants are equally acknowledged for financial support. The National Alliance for Autism Research (NAAR) is also greatly acknowledged for financial support granted to Professor David Pauls. This study also received financial support from the Alma and K. A. Snellman Foundation, Oulu, Finland; the Rinnekoti Research Foundation, Espoo, Finland; the Child Psychiatric Research Foundation, Finland; the Emil Aaltonen Foundation, Finland; the Northern Ostrobothnia Hospital District; the Sigrid Juselius Foundation, Finland; the Thule Institute of the University of Oulu, Finland; and Lundbeck's Foundation, Turku, Finland. The Graduate School of Circumpolar Well-being, Health, and Adaptation is acknowledged for its support. 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PD DEC PY 2011 VL 52 IS 10 BP 1169 EP 1174 DI 10.1258/ar.2011.110197 PG 6 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA 877AQ UT WOS:000299149300019 PM 22101385 ER PT J AU Secor, JD Kotha, SR Gurney, TO Patel, RB Kefauver, NR Gupta, N Morris, AJ Haley, BE Parinandi, NL AF Secor, Jordan D. Kotha, Sainath R. Gurney, Travis O. Patel, Rishi B. Kefauver, Nicholas R. Gupta, Niladri Morris, Andrew J. Haley, Boyd E. Parinandi, Narasimham L. TI Novel Lipid-Soluble Thiol-Redox Antioxidant and Heavy Metal Chelator, N,N '-bis(2-Mercaptoethyl)Isophthalamide (NBMI) and Phospholipase D-Specific Inhibitor, 5-Fluoro-2-Indolyl Des-Chlorohalopemide (FIPI) Attenuate Mercury-Induced Lipid Signaling Leading to Protection Against Cytotoxicity in Aortic Endothelial Cells SO INTERNATIONAL JOURNAL OF TOXICOLOGY LA English DT Article DE mercury; vasculotoxicity; PLD; endothelial cell; NBMI; thiol redox; antioxidant; FIPI; mercaptoethylisophthalamide; bioactive lipid signaling ID D ACTIVATION; INORGANIC MERCURY; OXIDATIVE STRESS; METHYL MERCURY; EXPOSURE; KINASE; AUTISM; ACID; FISH; METHYLMERCURY AB Here, we investigated thiol-redox-mediated phospholipase D (PLD) signaling as a mechanism of mercury cytotoxicity in mouse aortic endothelial cell (MAEC) in vitro model utilizing the novel lipid-soluble thiol-redox antioxidant and heavy metal chelator, N,N '-bis(2-mercaptoethyl) isophthalamide (NBMI) and the novel PLD-specific inhibitor, 5-fluoro-2-indolyl des-chlorohalopemide (FIPI). Our results demonstrated (i) mercury in the form of mercury(II) chloride, methylmercury, and thimerosal induced PLD activation in a dose- and time-dependent manner; (ii) NBMI and FIPI completely attenuated mercury- and oxidant-induced PLD activation; (iii) mercury induced upstream phosphorylation of extracellular-regulated kinase 1/2 (ERK1/2) leading to downstream threonine phosphorylation of PLD1 which was attenuated by NBMI; (iv) mercury caused loss of intracellular glutathione which was restored by NBMI; and (v) NBMI and FIPI attenuated mercury- and oxidant-induced cytotoxicity in MAECs. For the first time, this study demonstrated that redox-dependent and PLD-mediated bioactive lipid signaling was involved in mercury-induced vascular EC cytotoxicity which was protected by NBMI and FIPI. C1 [Secor, Jordan D.; Kotha, Sainath R.; Gurney, Travis O.; Patel, Rishi B.; Kefauver, Nicholas R.; Parinandi, Narasimham L.] Ohio State Univ, Lipid Signaling Lipid & Vasculotox Lab, Div Pulm Allergy Crit Care & Sleep Med, Dorothy M Davis Heart & Lung Res Inst,Coll Med, Columbus, OH 43210 USA. [Secor, Jordan D.; Kotha, Sainath R.; Gurney, Travis O.; Patel, Rishi B.; Kefauver, Nicholas R.; Parinandi, Narasimham L.] Ohio State Univ, Lipid Signaling Lipid & Vasculotox Lab, Div Pulm Allergy Crit Care & Sleep Med, Dorothy M Davis Heart & Lung Res Inst,Coll Pharm, Columbus, OH 43210 USA. [Secor, Jordan D.; Kotha, Sainath R.; Gurney, Travis O.; Patel, Rishi B.; Kefauver, Nicholas R.; Parinandi, Narasimham L.] Ohio State Univ, Coll Med, Div Pharmacol, Columbus, OH 43210 USA. [Secor, Jordan D.; Kotha, Sainath R.; Gurney, Travis O.; Patel, Rishi B.; Kefauver, Nicholas R.; Parinandi, Narasimham L.] Ohio State Univ, Coll Pharm, Div Pharmacol, Columbus, OH 43210 USA. [Gupta, Niladri; Haley, Boyd E.] CTI Sci Inc, Lexington, KY USA. [Morris, Andrew J.] Univ Kentucky, Lexington, KY USA. RP Parinandi, NL (reprint author), Ohio State Univ, Lipid Signaling Lipid & Vasculotox Lab, Div Pulm Allergy Crit Care & Sleep Med, Dorothy M Davis Heart & Lung Res Inst,Coll Med, Room 611-A,473 W 12th Ave, Columbus, OH 43210 USA. EM narasimham.parinandi@osumc.edu FU Dorothy M. Davis Heart and Lung Research Institute; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine of the Ohio State University College of Medicine; National Institute of Health [HL093463]; International Academy of Oral Medicine and Toxicology (IAOMT); Alan D. Clark, MD, Memorial Research Fund; NSF FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: the Dorothy M. Davis Heart and Lung Research Institute and the Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine of the Ohio State University College of Medicine, the National Institute of Health (HL093463), the International Academy of Oral Medicine and Toxicology (IAOMT), and the Alan D. Clark, MD, Memorial Research Fund.Boyd E. Haley, a coauthor of this communication, is Professor Emeritus in the Department of Chemistry at the University of Kentucky, Lexington, KY, USA with a 20% research appointment and is on an active NSF grant in that institution. Dr Haley is also the President of CTI Science which is a possible conflict of interest since they hold the license to the patents concerning the compound, NBMI. 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PD DEC PY 2011 VL 22 IS 3 BP 421 EP 422 DI 10.1111/j.1757-6547.2011.00154.x PG 2 WC Anthropology SC Anthropology GA 865IA UT WOS:000298303400010 ER PT J AU Jacome, LF Burket, JA Herndon, AL Deutsch, SI AF Jacome, Luis F. Burket, Jessica A. Herndon, Amy L. Deutsch, Stephen I. TI Genetically inbred Balb/c mice differ from outbred Swiss Webster mice on discrete measures of sociability: relevance to a genetic mouse model of autism spectrum disorders SO AUTISM RESEARCH LA English DT Article DE Balb; c mouse strain; sociability; autism spectrum disorders ID BEHAVIORAL TASKS RELEVANT; STRAINS DIFFER; MK-801; SCHIZOPHRENIA; SENSITIVITY; PHENOTYPES; ANTAGONIST AB The Balb/c mouse is proposed as a model of human disorders with prominent deficits of sociability, such as autism spectrum disorders (ASDs) that may involve pathophysiological disruption of NMDA receptor-mediated neurotransmission. A standard procedure was used to measure sociability in 8-week-old male genetically inbred Balb/c and outbred Swiss Webster mice. Moreover, because impaired sociability may influence the social behavior of stimulus mice, we also measured the proportion of total episodes of social approach made by the stimulus mouse while test and stimulus mice were allowed to interact freely. Three raters with good inter-rater agreement evaluated operationally defined measures of sociability chosen because of their descriptive similarity to deficits of social behavior reported in persons with ASDs. The data support previous reports that the Balb/c mouse is a genetic mouse model of impaired sociability. The data also show that the behavior of the social stimulus mouse is influenced by the impaired sociability of the Balb/c strain. Interestingly, operationally defined measures of sociability did not necessarily correlate with each other within mouse strain and the profile of correlated measures differed between strains. Finally, stereotypic behaviors (i.e. rearing, grooming and wall climbing) recorded during the session of free interaction between the test and social stimulus mice were more intensely displayed by Swiss Webster than Balb/c mice, suggesting that the domains of sociability and restricted repetitive and stereotyped patterns of behavior are independent of each other in the Balb/c strain. Autism Res 2011,4:393400. (C) 2011 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Jacome, Luis F.; Burket, Jessica A.; Herndon, Amy L.; 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. EM deutscsi@evms.edu FU Office of the Dean of the Eastern Virginia Medical School FX The authors acknowledge the generous support that they receive from the Office of the Dean of the Eastern Virginia Medical School. 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PD DEC PY 2011 VL 4 IS 6 BP 393 EP 400 DI 10.1002/aur.218 PG 8 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 858IK UT WOS:000297789500001 PM 21882363 ER PT J AU Alderson-Day, B AF Alderson-Day, Ben TI Verbal problem-solving in autism spectrum disorders: A problem of plan construction? SO AUTISM RESEARCH LA English DT Article DE autism; problem-solving; executive functioning; planning; categorization ID HIGH-FUNCTIONING AUTISM; DEFICIT HYPERACTIVITY DISORDER; IMPAIRED MEMORY FUNCTIONS; EXECUTIVE FUNCTIONS; ASPERGERS-SYNDROME; CONCEPT-IDENTIFICATION; CLINICAL MEASURE; WORKING-MEMORY; CHILDREN; STRATEGIES AB Children with autism spectrum disorders (ASD) adopt less efficient strategies than typically developing controls (TD) on verbal problem-solving tests such as the Twenty Questions Task. This study examined the hypotheses that this can be explained by differences in (i) planning processes or (ii) selective attention. Twenty-two children with ASD and 21 TD controls matched for age (Mage = 13:7) and cognitive ability (MFSIQ = 96.42) were tested on an adapted version of Twenty Questions and two planning tasks. ASD participants could recognize effective questions as well as TD participants on a forced-choice question discrimination task, but were observed to construct plans that were significantly less efficient. ASD performance was also specifically reduced when items could not be physically removed from the testing array, although this effect could be ameliorated by keeping a written record of participant questions during search. These findings indicate that ASD participants are sensitive to the within-task executive demands of Twenty Questions, but that their inefficiency in strategy relates to planning processes and question selection pretask. The implications for understanding ASD problem-solving skills and their impact on everyday functioning are discussed. Autism Res 2011,4:401-411. 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PD DEC PY 2011 VL 4 IS 6 BP 401 EP 411 DI 10.1002/aur.222 PG 11 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 858IK UT WOS:000297789500002 PM 21905244 ER PT J AU South, M Larson, MJ White, SE Dana, J Crowley, MJ AF South, Mikle Larson, Michael J. White, Sarah E. Dana, Julianne Crowley, Michael J. TI Better fear conditioning is associated with reduced symptom severity in autism spectrum disorders SO AUTISM RESEARCH LA English DT Article DE autism spectrum disorders; amygdala; anxiety; fear conditioning; dimensional measures ID NEURAL CIRCUITRY; AMYGDALA THEORY; CHILDREN; STIMULI; EMOTION; IMPAIRMENT; ANXIETY; ABNORMALITIES; RESPONSES; DEFICITS AB Evidence from behavioral and neuroimaging studies suggest that atypical amygdala function plays a critical role in the development of autism spectrum disorders (ASD). The handful of psychophysiological studies examining amygdala function in ASD using classical fear conditioning paradigms have yielded discordant results. We recorded skin conductance response (SCR) during a simple discrimination conditioning task in 30 children and adolescents (ages 818) diagnosed with high-functioning ASD and 30 age- and IQ-matched, typically developing controls. SCR response in the ASD group was uniquely and positively associated with social anxiety; and negatively correlated with autism symptom severity, in particular with social functioning. Fear conditioning studies have tremendous potential to aid understanding regarding the amygdale's role in the varied symptom profile of ASD. Our data demonstrate that such studies require careful attention to task-specific factors, including task complexity; and also to contributions of dimensional, within-group factors that contribute to ASD heterogeneity. Autism Res 2011,4:412-421. (C) 2011 International Society for Autism Research, Wiley Periodicals, Inc. C1 [South, Mikle; Larson, Michael J.; Dana, Julianne] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA. [South, Mikle; Larson, Michael J.; White, Sarah E.] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA. [Crowley, Michael J.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA. RP South, M (reprint author), Brigham Young Univ, Dept Psychol, 245 TLRB,1190 North,900 East, Provo, UT 84602 USA. EM south@byu.edu RI Larson, Michael/C-8543-2012; South, Mikle/H-4978-2013 OI South, Mikle/0000-0003-0152-1257 FU Brigham Young University; Family Studies Center; College of Home, Family, and Social Sciences FX Grant sponsor: Brigham Young University, Mentored Environment GrantThank you to all the children and families who volunteered to participate in this study. We gratefully acknowledge the able assistance of Annahir Cariello, Oliver Johnston, Jaime Ballard, Adrian Rockwell, Ryan Hunsaker, Sarah Van Tassell, Kyle Jamison, and Tiffani Newton. This work was supported by research grants from Brigham Young University, including the Family Studies Center; the College of Home, Family, and Social Sciences; and a Mentored Environment Grant. 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PD DEC PY 2011 VL 4 IS 6 BP 412 EP 421 DI 10.1002/aur.221 PG 10 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 858IK UT WOS:000297789500003 PM 21905243 ER PT J AU Naigles, LR Kelty, E Jaffery, R Fein, D AF Naigles, Letitia R. Kelty, Emma Jaffery, Rose Fein, Deborah TI Abstractness and continuity in the syntactic development of young children with autism SO AUTISM RESEARCH LA English DT Article DE developmental psychology; preschoolers < pediatrics; language; grammar ID SENTENCE COMPREHENSION; LANGUAGE-ACQUISITION; SPECTRUM DISORDERS; ADAPTIVE-BEHAVIOR; WORD-ORDER; INDIVIDUALS; TODDLERS; INFANTS; CATEGORIZATION; IMPAIRMENT AB Grammar is frequently considered to be a strength in the cognitive profile of individuals with autism spectrum disorders (ASDs); however, few studies have investigated how abstract (i.e. distinct from specific lexical items) is the grammatical knowledge of individuals with ASD. In this study, we examine the extent to which children with ASD have abstracted the transitive (SVO) frame in English. Participants in a longitudinal study of language acquisition in children with autism (17 children with ASD averaging 41 months of age, 18 TD children averaging 28 months of age) were taught two novel verbs in transitive sentences and asked (via intermodal preferential looking) whether these verbs mapped onto novel causative vs. noncausative actions. Both groups consistently mapped the verbs onto the causative actions (i.e. they engaged in syntactic bootstrapping). Moreover, the children with ASD's performance on this task was significantly and independently predicted by both vocabulary and sentence-processing measures obtained 8 months earlier. We conclude that many children with ASD are able to generalize grammatical patterns, and this ability may derive from earlier lexical and grammatical knowledge. Autism Res 2011,4:422-437. (C) 2011 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Naigles, Letitia R.] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA. RP Naigles, LR (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd,Unit 1020, Storrs, CT 06269 USA. EM letitia.naigles@uconn.edu FU National Institutes of Health [R01 DC07428, R01 2DC007428] FX Grant sponsor: National Institutes of Health; Grant numbers: R01 DC07428; R01 2DC007428. 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PD DEC PY 2011 VL 4 IS 6 BP 422 EP 437 DI 10.1002/aur.223 PG 16 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 858IK UT WOS:000297789500004 PM 22012625 ER PT J AU Pinborough-Zimmerman, J Bilder, D Bakian, A Satterfield, R Carbone, PS Nangle, BE Randall, H McMahon, WM AF Pinborough-Zimmerman, Judith Bilder, Deborah Bakian, Amanda Satterfield, Robert Carbone, Paul S. Nangle, Barry E. Randall, Harper McMahon, William M. TI Sociodemographic risk factors associated with autism spectrum disorders and intellectual disability SO AUTISM RESEARCH LA English DT Article DE autism spectrum disorder; intellectual disability; sociodemographic; socioeconomic ID PERVASIVE DEVELOPMENTAL DISORDERS; US METROPOLITAN-AREA; MENTAL-RETARDATION; DOWN-SYNDROME; EPIDEMIOLOGIC SURVEY; WESTERN-AUSTRALIA; INFANTILE-AUTISM; SEX-DIFFERENCES; UNITED-STATES; MATERNAL AGE AB This study examined the hypotheses that (1) sociodemographic risk factors in young children with autism spectrum disorders (ASD) and/or intellectual disability (ID) significantly vary by disability type, and (2) measures of income (mean adjusted gross income, mean federal taxes paid, and mean tax exemptions) significantly increase between 1994 and 2002, and are lower in families with a child with ASD and/or ID compared with the general population. A multiple source surveillance system utilizing a retrospective record review was used to identify ASD and ID cases from a population of 26,108 eight-year-old children born in 1994 and living in Utah in 2002. ASD without ID (ASD-only, n = 99) cases were significantly more likely to be male (P<0.01) and have mothers of White non-Hispanic ethnicity (P = 0.02). ASD with ID (ASD/ID, n = 33) cases were significantly more likely to be male (P<0.01) and have mothers older than 34 years (P = 0.03). ID without ASD (ID-only, n = 113) cases were significantly more likely to have fathers older than 34 years (P<0.01) and were significantly less likely to have mothers with >13 years education (P<0.01). Measures of income for cases at birth and at 8 years of age were not significantly lower than the general population and mean adjusted income of cases significantly increased from birth to 8 years of age. Investigations focused on defining early sociodemographic risk factors by different endophenotypes of ASD may assist in identifying risk factors for this complex group of neurodevelopmental disorders. Aggregate tax information may be a unique resource to utilize for population-based analysis. Autism Res 2011,4:438448. (C) 2011 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Pinborough-Zimmerman, Judith; Bilder, Deborah; Bakian, Amanda; McMahon, William M.] Univ Utah, Dept Psychiat, Salt Lake City, UT 84108 USA. [Satterfield, Robert; Nangle, Barry E.; Randall, Harper] Utah Dept Hlth, Salt Lake City, UT 84116 USA. [Carbone, Paul S.] Univ Utah, Dept Pediat, Salt Lake City, UT 84108 USA. RP Pinborough-Zimmerman, J (reprint author), Univ Utah, Dept Psychiat, 650 Komas Dr,Suite 206, Salt Lake City, UT 84108 USA. EM judith.zimmerman@hsc.utah.edu FU Centers for Disease Control and Prevention [CCU822365] FX Grant sponsor: Centers for Disease Control and Prevention; Grant number: CCU822365. 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PD DEC PY 2011 VL 4 IS 6 BP 438 EP 448 DI 10.1002/aur.224 PG 11 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 858IK UT WOS:000297789500005 PM 21905245 ER PT J AU Hedley, D Brewer, N Young, R AF Hedley, Darren Brewer, Neil Young, Robyn TI Face recognition performance of individuals with Asperger syndrome on the Cambridge face memory test SO AUTISM RESEARCH LA English DT Article DE face recognition; autism spectrum disorder; Asperger syndrome; CFMT; face perception ID CAST CHILDHOOD ASPERGER; DEVELOPMENTAL PROSOPAGNOSIA; AUTISM; CHILDREN; PERCEPTION; ABILITY; IMPAIRMENT; DISORDERS; ACCURACY; BATTERY AB Although face recognition deficits in individuals with Autism Spectrum Disorder (ASD), including Asperger syndrome (AS), are widely acknowledged, the empirical evidence is mixed. This in part reflects the failure to use standardized and psychometrically sound tests. We contrasted standardized face recognition scores on the Cambridge Face Memory Test (CFMT) for 34 individuals with AS with those for 42, IQ-matched non-ASD individuals, and age-standardized scores from a large Australian cohort. We also examined the influence of IQ, autistic traits, and negative affect on face recognition performance. Overall, participants with AS performed significantly worse on the CFMT than the non-ASD participants and when evaluated against standardized test norms. However, while 24% of participants with AS presented with severe face recognition impairment (>2 SDs below the mean), many individuals performed at or above the typical level for their age: 53% scored within +/- 1 SD of the mean and 9% demonstrated superior performance (>1 SD above the mean). Regression analysis provided no evidence that IQ, autistic traits, or negative affect significantly influenced face recognition: diagnostic group membership was the only significant predictor of face recognition performance. In sum, face recognition performance in ASD is on a continuum, but with average levels significantly below non-ASD levels of performance. Autism Res 2011,4:449-455. (C) 2011 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Hedley, Darren; Brewer, Neil; Young, Robyn] Flinders Univ S Australia, Sch Psychol, Adelaide, SA 5001, Australia. RP Brewer, N (reprint author), Flinders Univ S Australia, Sch Psychol, GPO Box 2100, Adelaide, SA 5001, Australia. EM Neil.Brewer@flinders.edu.au FU Flinders University; Australian Research Council (ARC) [LE0882562, DP1093210] FX Grant sponsors: Flinders University Research Grant; Australian Research Council (ARC); Grant numbers: LE0882562; DP1093210. 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PD DEC PY 2011 VL 4 IS 6 BP 449 EP 455 DI 10.1002/aur.214 PG 7 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA 858IK UT WOS:000297789500006 PM 22162360 ER PT J AU Hoshiko, S Grether, JK Windham, GC Smith, D Fessel, K AF Hoshiko, Sumi Grether, Judith K. Windham, Gayle C. Smith, Daniel Fessel, Karen TI Are thyroid hormone concentrations at birth associated with subsequent autism diagnosis? SO AUTISM RESEARCH LA English DT Article DE epidemiology; autism; thyroid; environment; hormones ID SPECTRUM DISORDERS; STIMULATING HORMONE; COGNITIVE FUNCTION; PREGNANCY; HYPOTHYROIDISM; DISRUPTION; CALIFORNIA; THYROXINE; CHILDREN AB Thyroid hormones substantially influence central nervous system development during gestation. We hypothesized that perturbations of early thyroid profiles may contribute to the development of autism spectrum disorders (ASD). Thyroid pathways could provide a mechanism by which environmental factors that affect the thyroid system may impact autism occurrence or phenotypic expression. We investigated whether thyroxine (T4) levels at birth are associated with subsequent ASD, using two existing California study groups in multivariate analysis. One study group included children born in the San Francisco Bay Area in 1994, with cases identified through the California Department of Developmental Services (DDS) and/or the Kaiser Permanente Medical Care Program of Northern California (244 cases, 266 controls); the other included children born in California in 1995, with cases identified through DDS (310 cases, 518 controls). Matched controls were selected from birth certificate records. This exploratory analysis suggested that infants with very low T4 (<3rd percentile) may have higher ASD risk, although results reached statistical significance only for the 1995 study group (1995: OR = 2.74 (95% CI 1.305.75; 1994: OR = 1.71 (95% CI 0.575.19). A variety of alternate analyses were conducted with available data, without further resolution of the difference between the two study groups. The results of our study indicate that further studies are warranted to investigate whether thyroid hormone perturbations play a role in the development of ASD by evaluating additional potential confounders and genotype or phenotype in larger studies. Autism Res 2011,4:456463. (C) 2011 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Hoshiko, Sumi; Grether, Judith K.; Windham, Gayle C.; Smith, Daniel; Fessel, Karen] Calif Dept Publ Hlth, Environm Hlth Invest Branch, Richmond, CA 94804 USA. RP Hoshiko, S (reprint author), Calif Dept Publ Hlth, Environm Hlth Invest Branch, 850 Marina Bay Pkwy,Bldg P,3rd Floor, Richmond, CA 94804 USA. EM sumi.hoshiko@cdph.ca.gov FU California Department of Public Health; National Center for Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention [CDC U10/CCU920392] FX Grant sponsor: California Department of Public Health.The authors thank Meredith Anderson for data management support and Fred Lorey, PhD, and Martin Kharazzi, PhD, for assistance with and interpretation of thyroid data from the Genetic Disease Screening Program. This work was supported by the California Department of Public Health; and, in part, by a Cooperative Agreement with the National Center for Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention [CDC U10/CCU920392]. 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TI Comprehensive Motor Testing in Fmr1-KO Mice Exposes Temporal Defects in Oromotor Coordination SO BEHAVIORAL NEUROSCIENCE LA English DT Article DE oromotor behavior; fragile X syndrome; motor coordination; motor learning ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; MOUSE MODEL; KNOCKOUT MICE; DISORDERS; PROFILES; AUTISM; INSTABILITY; ACTIVATION; EXPRESSION AB Fragile X syndrome (FXS; MIM #300624), a well-recognized form of inherited human mental retardation is caused, in most cases, by a CGG trinucleotide repeat expansion in the 5'-untranslated region of FMR1, resulting in reduced expression of the fragile X mental retardation protein (FMRP). Clinical features include macroorchidism, anxiety, mental retardation, motor coordination, and speech articulation deficits. The Fmr1 knockout (Fmr1-KO) mouse, a mouse model for FXS, has been shown to replicate the macroorchidism, cognitive deficits, and neuroanatomical abnormalities found in human FXS. Here we asked whether Fmr1-KO mice also display appendicular and oromotor deficits comparable to the ataxia and dysarthric speech seen in FXS patients. We employed standard motor tests for balance and appendicular motor coordination, and used a novel long-term fluid-licking assay to investigate oromotor function in Fmr1-KO mice and their wild-type (WT) littermates. Fmr1-KO mice performed equally well as their WT littermates on standard motor tests, with the exception of a raised-beam task. However, Fmr1-KO mice had a significantly slower licking rhythm than their WT littermates. Deficits in rhythmic fluid-licking in Fmr1-KO mice have been linked to cerebellar pathologies. It is believed that balance and motor coordination deficits in FXS patients are caused by cerebellar neurophathologies. The neuronal bases of speech articulation deficits in FXS patients are currently unknown. It is yet to be established whether similar neuronal circuits control rhythmic fluid-licking pattern in mice and speech articulation movement in humans. C1 [Roy, Snigdha; Allensworth, Melody; Heck, Detlef H.] Univ Tennessee, Dept Anat & Neurobiol, Hlth Sci Ctr, Memphis, TN 38163 USA. [Zhao, Yu; Farook, Mohamed F.; LeDoux, Mark S.; Reiter, Lawrence T.] Univ Tennessee, Dept Neurol, Hlth Sci Ctr, Memphis, TN 38163 USA. [Reiter, Lawrence T.] Univ Tennessee, Dept Anat & Neurobiol, Hlth Sci Ctr, Memphis, TN 38163 USA. RP Heck, DH (reprint author), Univ Tennessee, Dept Anat & Neurobiol, Hlth Sci Ctr, 855 Monroe Ave,Room 405, Memphis, TN 38163 USA. EM dheck@uthsc.edu FU National Institutes of Health [R03HD057244, R01NS060887, R01NS063009]; Clinical and Translational Science Institute at the University of Tennessee Health Science Center; Neuroscience Institute at the University of Tennessee Health Science Center; Dystonia Medical Research Foundation; National Institute of Neurological Disease and Stroke [R01NS048458, R01NS069936]; Angelman Syndrome Foundation FX We thank Shuhua Qi and Michael Nguyen for excellent technical support. This work was supported by grants from the National Institutes of Health to D. H. H. (R03HD057244, R01NS060887 and R01NS063009). S. R. was supported, in part, by a grant from the Clinical and Translational Science Institute at the University of Tennessee Health Science Center. M. S. L. was supported, in part, by grants from the Neuroscience Institute at the University of Tennessee Health Science Center, Dystonia Medical Research Foundation and National Institute of Neurological Disease and Stroke (R01NS048458 and R01NS069936). Partial support from the Angelman Syndrome Foundation to L. T. R. and D. H. H. is also acknowledged. 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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Psychol. PD DEC PY 2011 VL 19 IS 3 BP 643 EP 658 PG 16 WC Psychology, Clinical SC Psychology GA 858SC UT WOS:000297822000009 ER PT J AU Obrenovich, ME Shamberger, RJ Lonsdale, D AF Obrenovich, Mark E. Shamberger, Raymond J. Lonsdale, Derrick TI Altered Heavy Metals and Transketolase Found in Autistic Spectrum Disorder SO BIOLOGICAL TRACE ELEMENT RESEARCH LA English DT Article DE Transketolase; Hair; Heavy metal; Copper; Iron; Mercury; Arsenic; Divalent cation; Transport; Autistic spectrum disorder; Mitochondria; Oxidative stress ID OXIDATIVE STRESS; THIAMINE-DEFICIENCY; ERYTHROCYTE-TRANSKETOLASE; MITOCHONDRIA FAILURE; ALZHEIMER-DISEASE; CHILDREN; NEURODEGENERATION; HYPOPERFUSION; DYSFUNCTION; POTASSIUM AB Autism and autism spectrum disorder (ASD) are developmental brain disorders with complex, obscure, and multifactorial etiology. Our recent clinical survey of patient records from ASD children under the age of 6 years and their age-matched controls revealed evidence of abnormal markers of thiol metabolism, as well as a significant alteration in deposition of several heavy metal species, particularly arsenic, mercury, copper, and iron in hair samples between the groups. Altered thiol metabolism from heavy metal toxicity may be responsible for the biochemical alterations in transketolase, and are mechanisms for oxidative stress production, dysautonomia, and abnormal thiamine homeostasis. It is unknown why the particular metals accumulate, but we suspect that children with ASD may have particular trouble excreting thiol-toxic heavy metal species, many of which exist as divalent cations. Accumulation or altered mercury clearance, as well as concomitant oxidative stress, arising from redox-active metal and arsenic toxicity, offers an intriguing component or possible mechanism for oxidative stress-mediated neurodegeneration in ASD patients. Taken together, these factors may be more important to the etiology of this symptomatically diverse disease spectrum and may offer insights into new treatment approaches and avenues of exploration for this devastating and growing disease. C1 [Obrenovich, Mark E.] Cleveland State Univ, Dept Chem, Cleveland, OH 44115 USA. [Obrenovich, Mark E.; Shamberger, Raymond J.] King James Med Lab, Cleveland, OH USA. [Obrenovich, Mark E.; Lonsdale, Derrick] Amer Inst Complementary Alternat Med, Cleveland, OH USA. 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PD DEC PY 2011 VL 5 IS 6 BP 820 EP 820 PG 1 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 867XN UT WOS:000298488200017 ER PT J AU Anderson, JS Nielsen, JA Froehlich, AL DuBray, MB Druzgal, TJ Cariello, AN Cooperrider, JR Zielinski, BA Ravichandran, C Fletcher, PT Alexander, AL Bigler, ED Lange, N Lainhart, JE AF Anderson, Jeffrey S. Nielsen, Jared A. Froehlich, Alyson L. DuBray, Molly B. Druzgal, T. Jason Cariello, Annahir N. Cooperrider, Jason R. Zielinski, Brandon A. Ravichandran, Caitlin Fletcher, P. Thomas Alexander, Andrew L. Bigler, Erin D. Lange, Nicholas Lainhart, Janet E. TI Functional connectivity magnetic resonance imaging classification of autism SO BRAIN LA English DT Article DE autism spectrum disorders; resting state functional MRI; brain development; functional MRI; functional connectivity MRI ID SPECTRUM DISORDERS; CORPUS-CALLOSUM; FRONTAL-CORTEX; CORTICAL UNDERCONNECTIVITY; NARRATIVE COMPREHENSION; SENTENCE COMPREHENSION; DEFAULT NETWORK; WORKING-MEMORY; GLOBAL SIGNAL; BRAIN AB Group differences in resting state functional magnetic resonance imaging connectivity between individuals with autism and typically developing controls have been widely replicated for a small number of discrete brain regions, yet the whole-brain distribution of connectivity abnormalities in autism is not well characterized. It is also unclear whether functional connectivity is sufficiently robust to be used as a diagnostic or prognostic metric in individual patients with autism. We obtained pairwise functional connectivity measurements from a lattice of 7266 regions of interest covering the entire grey matter (26.4 million connections) in a well-characterized set of 40 male adolescents and young adults with autism and 40 age-, sex- and IQ-matched typically developing subjects. A single resting state blood oxygen level-dependent scan of 8 min was used for the classification in each subject. A leave-one-out classifier successfully distinguished autism from control subjects with 83% sensitivity and 75% specificity for a total accuracy of 79% (P = 1.1 x 10(-7)). In subjects < 20 years of age, the classifier performed at 89% accuracy (P = 5.4 x 10(-7)). In a replication dataset consisting of 21 individuals from six families with both affected and unaffected siblings, the classifier performed at 71% accuracy (91% accuracy for subjects < 20 years of age). Classification scores in subjects with autism were significantly correlated with the Social Responsiveness Scale (P = 0.05), verbal IQ (P = 0.02) and the Autism Diagnostic Observation Schedule-Generic's combined social and communication subscores (P = 0.05). An analysis of informative connections demonstrated that region of interest pairs with strongest correlation values were most abnormal in autism. Negatively correlated region of interest pairs showed higher correlation in autism (less anticorrelation), possibly representing weaker inhibitory connections, particularly for long connections (Euclidean distance > 10 cm). Brain regions showing greatest differences included regions of the default mode network, superior parietal lobule, fusiform gyrus and anterior insula. Overall, classification accuracy was better for younger subjects, with differences between autism and control subjects diminishing after 19 years of age. Classification scores of unaffected siblings of individuals with autism were more similar to those of the control subjects than to those of the subjects with autism. These findings indicate feasibility of a functional connectivity magnetic resonance imaging diagnostic assay for autism. C1 [Anderson, Jeffrey S.] Univ Utah, Dept Neuroradiol, Sch Med 1A71, Salt Lake City, UT 84132 USA. [Anderson, Jeffrey S.; Nielsen, Jared A.; DuBray, Molly B.; Cooperrider, Jason R.; Lainhart, Janet E.] Univ Utah, Interdept Program Neurosci, Salt Lake City, UT 84112 USA. [Anderson, Jeffrey S.; Fletcher, P. Thomas; Bigler, Erin D.; Lainhart, Janet E.] Univ Utah, Inst Brain, Salt Lake City, UT 84112 USA. [Anderson, Jeffrey S.] Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USA. [Nielsen, Jared A.; Froehlich, Alyson L.; DuBray, Molly B.; Cariello, Annahir N.; Cooperrider, Jason R.; Lainhart, Janet E.] Univ Utah, Dept Psychiat, Salt Lake City, UT 84112 USA. [Druzgal, T. Jason] Univ Virginia, Dept Radiol, Charlottesville, VA 22908 USA. [Zielinski, Brandon A.] Univ Utah, Dept Paediat, Salt Lake City, UT 84112 USA. [Zielinski, Brandon A.] Univ Utah, Div Child Neurol, Salt Lake City, UT 84112 USA. [Ravichandran, Caitlin; Lange, Nicholas] McLean Hosp, Neurostat Lab, Belmont, MA 02478 USA. [Ravichandran, Caitlin; Lange, Nicholas] Harvard Univ, Sch Publ Hlth, Dept Psychiat, Boston, MA 02115 USA. [Ravichandran, Caitlin; Lange, Nicholas] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA. [Fletcher, P. Thomas] Univ Utah, Sch Comp, Salt Lake City, UT 84112 USA. [Fletcher, P. Thomas] Univ Utah, Sci Comp & Imaging Inst, Salt Lake City, UT 84112 USA. [Alexander, Andrew L.] Univ Wisconsin, Waisman Ctr, Waisman Lab Brain Imaging & Behav, Dept Med Phys, Madison, WI 53705 USA. [Alexander, Andrew L.] Univ Wisconsin, Waisman Ctr, Waisman Lab Brain Imaging & Behav, Dept Psychiat, Madison, WI 53705 USA. [Bigler, Erin D.] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA. [Bigler, Erin D.] Brigham Young Univ, Neurosci Ctr, Provo, UT 84602 USA. RP Anderson, JS (reprint author), Univ Utah, Dept Neuroradiol, Sch Med 1A71, Salt Lake City, UT 84132 USA. EM andersonjeffs@gmail.com FU National Institutes of Health [K08 MH092697, RO1MH080826, P50MH60450, T32DC008553, R01NS34783]; Autism Speaks Mentor-based Predoctoral Fellowship [1677]; University of Utah; NRSA [F31 DC010143]; Ben B. and Iris M. Margolis Foundation FX National Institutes of Health (grant numbers K08 MH092697, RO1MH080826, P50MH60450, T32DC008553, R01NS34783); Autism Speaks Mentor-based Predoctoral Fellowship (grant number 1677); University of Utah Multidisciplinary Research Seed Grant; NRSA Predoctoral Fellowship (grant number F31 DC010143); Ben B. and Iris M. Margolis Foundation. 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Nymberg, Charlotte Schultz, Robert T. TI Biological motion task performance predicts superior temporal sulcus activity SO BRAIN AND COGNITION LA English DT Article DE Biological motion; fMRI; Superior temporal sulcus; Amygdala ID FUSIFORM FACE AREA; SOCIAL-PERCEPTION; BRAIN-AREAS; VISUAL-PERCEPTION; ASPERGER-SYNDROME; PREMOTOR CORTEX; FMRI; AUTISM; COGNITION; MECHANISMS AB Numerous studies implicate superior temporal sulcus (STS) in the perception of human movement. More recent theories hold that STS is also involved in the understanding of human movement. However, almost no studies to date have associated STS function with observable variability in action understanding. The present study directly associated STS activity with performance on a challenging task requiring the interpretation of human movement. During functional MRI scanning, fourteen adults were asked to identify the direction (left or right) in which either a point-light walking figure or spinning wheel were moving. The task was made challenging by perturbing the dot trajectories to a level (determined via pretesting) where each participant achieved 72% accuracy. The walking figure condition was associated with increased activity in a constellation of social information processing and biological motion areas, including STS, MT+/V5, right pars opercularis (inferior frontal gyrus), fusiform gyrus, and amygdala. Correctly answered walking figure trials were uniquely associated with increased activity in two right hemisphere STS clusters and right amygdala. Present findings provide some of the strongest evidence to date that STS plays a critical role in the successful interpretation of human movement. (C) 2011 Elsevier Inc. All rights reserved. C1 [Herrington, John D.; Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA. [Nymberg, Charlotte] Kings Coll London, Inst Psychiat, London, England. 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PD DEC PY 2011 VL 77 IS 3 BP 372 EP 381 DI 10.1016/j.bandc.2011.09.001 PG 10 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 855AG UT WOS:000297535300007 PM 22024246 ER PT J AU Brown, FJ Peace, N AF Brown, Freddy Jackson Peace, Natalie TI Teaching a child with challenging behaviour to use the toilet: a clinical case study SO BRITISH JOURNAL OF LEARNING DISABILITIES LA English DT Article DE Challenging behaviour; continence; toilet training ID AUTISM AB Learning to use the toilet is an important developmental step for a child's independence, health and dignity. It can be particularly difficult to teach continence skills to disabled children with aggressive or challenging behaviour. This study showed how Azrin & Foxx's (1971) basic toilet training procedure could be modified to teach a 13-year-old child with learning disabilities with aggressive behaviour to use the toilet in school. 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PD DEC PY 2011 VL 39 IS 4 BP 321 EP 326 DI 10.1111/j.1468-3156.2011.00676.x PG 6 WC Education, Special SC Education & Educational Research GA 860YI UT WOS:000297984100012 ER PT J AU Samadi, SA AF Samadi, Sayyed Ali TI The effect of handedness in vocational training among adults with intellectual disability SO BRITISH JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE Lateralisation; hand preference; dominance; mixed-handedness; left-handedness; right-handedness; intellectual disability; vocational assessment; vocational training ID HAND PREFERENCE; MENTAL-RETARDATION; DOWNS-SYNDROME; CHILDREN; AUTISM; LATERALIZATION; SPECIALIZATION; ASYMMETRIES; POPULATION AB Aim: The main aim of this study was to describe the relationship between right-handed, left-handed and mixed-handed adults with intellectual disability and their success in vocational training courses. Method: A total of 71 research participants in Iran with moderate and severe intellectual disability were chosen and their hand preferences were determined by means of a hand preference test. Results: The results showed that the research participants who were right-handers or left-handers were significantly more successful than those participants who were mixed-handers. There was a significant relationship between left or right handedness and success in job training (chi(2) = 11.490, df = 2, p = 0.003). Left-handers were statistically more successful in job training programmes than their mixed-hander counterparts (chi(2) = 9.252, df = 1, p = 0.002). A similar difference was found between right-hander and mixed-hander groups (chi(2) = 9.047, df = 1, p = 0.003). The difference between left and right handers in job training was not statistically significant (chi(2) = 0.227, df = 1, p = 0.634). 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J. Occup. Ther. PD DEC PY 2011 VL 74 IS 12 BP 581 EP 586 DI 10.4276/030802211X13232584581498 PG 6 WC Rehabilitation SC Rehabilitation GA 864XL UT WOS:000298273700006 ER PT J AU Fitzgerald, D AF Fitzgerald, Des TI The Autism Matrix: The Social Origins of the Autism Epidemic SO BRITISH JOURNAL OF SOCIOLOGY LA English DT Book Review C1 [Fitzgerald, Des] Univ London London Sch Econ & Polit Sci, London WC2A 2AE, England. RP Fitzgerald, D (reprint author), Univ London London Sch Econ & Polit Sci, London WC2A 2AE, England. CR Eyal Gil, 2010, AUTISM MATRIX SOCIAL NR 1 TC 0 Z9 0 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0007-1315 J9 BRIT J SOCIOL JI Br. J. Sociol. PD DEC PY 2011 VL 62 IS 4 BP 742 EP 743 DI 10.1111/j.1468-4446.2011.01389_3.x PG 2 WC Sociology SC Sociology GA 860CG UT WOS:000297924200012 ER PT J AU Abdallah, MW Grove, J Hougaard, DM Norgaard-Pedersen, B Ibrahimov, F Mortensen, EL AF Abdallah, Morsi W. Grove, Jakob Hougaard, David M. Norgaard-Pedersen, Bent Ibrahimov, Fuad Mortensen, Erik L. TI Autism Spectrum Disorders and Maternal Serum alpha-Fetoprotein Levels During Pregnancy SO CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE LA English DT Article DE alpha-fetoprotein; antenatal diagnoses; autistic disorder; biomarkers ID RISK-FACTORS; RELEVANCE; REGISTER; BIRTH AB Objective: Numerous studies have been trying to disentangle the complex pathophysiology of autism spectrum disorders (ASD). In our study, we explored the potential role of maternal serum (MS) alpha-fetoprotein (AFP) in the prediction and the pathophysiology of ASD. Methods: A total of 112 patients with ASD and 243 control subjects were included in a case-control study, using a historic birth cohort maintained at Statens Serum Institute. Measurements of MS-AFP were obtained from a multicentre screening program, whereas clinical data were obtained from nationwide registers. Association between MS-AFP and ASD status was analyzed using logistic regression models and nonparametric tests. Results: Crude, but not adjusted, estimates showed that MS-AFP levels were slightly, but significantly, higher in mothers of children with ASD, compared with their control subject counterparts. People with ASD had an odds ratio of 2.33, with 95% confidence intervals of 1.00 to 5.39, to have MS-AFP above 2.5 multiple of median. Excluding subjects with congenital malformation comorbidities did not alter the direction of our estimates (OR 2.60; 95% CI 1.04 to 6.51, P = 0.04). Conclusion: Biologic plausibility of its role in the pathophysiology of ASD makes AFP a good candidate for further larger-scale studies to confirm such an association and to determine whether this pattern is unique to ASD or related to other psychiatric disorders as well. C1 [Abdallah, Morsi W.] Univ Copenhagen, Inst Publ Hlth, Unit Med Psychol, DK-1014 Copenhagen K, Denmark. [Abdallah, Morsi W.] Univ Copenhagen, Ctr Healthy Aging, DK-1014 Copenhagen K, Denmark. [Abdallah, Morsi W.] Aarhus Univ, Dept Epidemiol, Sch Publ Hlth, Aarhus, Denmark. [Abdallah, Morsi W.; Hougaard, David M.; Norgaard-Pedersen, Bent] Statens Serum Inst, Dept Clin Biochem & Immunol, DK-2300 Copenhagen, Denmark. [Grove, Jakob] Aarhus Univ, Dept Biomed, Aarhus, Denmark. [Grove, Jakob] Aarhus Univ, Fac Hlth Sci, Aarhus, Denmark. [Grove, Jakob] Aarhus Univ, Bioinformat Res Ctr, Aarhus, Denmark. RP Abdallah, MW (reprint author), Univ Copenhagen, Inst Publ Hlth, Unit Med Psychol, Oster Farimagsgade 5B,CSS 15-0-19,Postboks 2099, DK-1014 Copenhagen K, Denmark. EM mab@soci.au.dk FU Aarhus University Faculty of Health Sciences, Department of Epidemiology, Aarhus, Denmark; SSI, Department of Clinical Biochemistry and Immunology, Copenhagen, Denmark [494028] FX Our study is funded by Aarhus University Faculty of Health Sciences, Department of Epidemiology, Aarhus, Denmark and SSI, Department of Clinical Biochemistry and Immunology, Copenhagen, Denmark (project title: Intrauterine Exposures and Childhood Psychiatric Disorders; project identification: 494028). 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Health PD DEC PY 2011 VL 16 SU 1 SI SI BP 34 EP 34 PG 1 WC Psychology, Clinical; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 854OF UT WOS:000297503400086 ER PT J AU Sheng, M Kim, E AF Sheng, Morgan Kim, Eunjoon TI The Postsynaptic Organization of Synapses SO COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY LA English DT Article ID LONG-TERM POTENTIATION; GABA(A) RECEPTOR TRAFFICKING; DENDRITIC SPINE MORPHOLOGY; SYNAPTIC NMDA RECEPTORS; AUTISM SPECTRUM DISORDERS; RAT HIPPOCAMPAL-NEURONS; DOG CEREBRAL-CORTEX; PROTEIN-KINASE-II; INHIBITORY SYNAPSES; DENSITY PROTEINS AB The postsynaptic side of the synapse is specialized to receive the neurotransmitter signal released from the presynaptic terminal and transduce it into electrical and biochemical changes in the postsynaptic cell. The cardinal functional components of the postsynaptic specialization of excitatory and inhibitory synapses are the ionotropic receptors (ligand-gated channels) for glutamate and g-aminobutyric acid (GABA), respectively. These receptor channels are concentrated at the postsynaptic membrane and embedded in a dense and rich protein network comprised of anchoring and scaffolding molecules, signaling enzymes, cytoskeletal components, as well as other membrane proteins. Excitatory and inhibitory postsynaptic specializations are quite different in molecular organization. The postsynaptic density of excitatory synapses is especially complex and dynamic in composition and regulation; it contains hundreds of different proteins, many of which are required for cognitive function and implicated in psychiatric illness. C1 [Kim, Eunjoon] Korea Adv Inst Sci & Technol, Dept Biol Sci, Taejon 305701, South Korea. [Sheng, Morgan] Genentech Inc, Dept Neurosci, San Francisco, CA 94080 USA. RP Kim, E (reprint author), Korea Adv Inst Sci & Technol, Dept Biol Sci, Taejon 305701, South Korea. 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Biol. PD DEC PY 2011 VL 3 IS 12 AR a005678 DI 10.1101/cshperspect.a005678 PG 20 WC Cell Biology SC Cell Biology GA 863AR UT WOS:000298135700009 ER PT J AU Sakkalis, V AF Sakkalis, V. TI Review of advanced techniques for the estimation of brain connectivity measured with EEG/MEG SO COMPUTERS IN BIOLOGY AND MEDICINE LA English DT Review DE Human brain connectivity; Functional connectivity; Effective connectivity; Multivariate times series; Coherence; Wavelet coherence; Nonlinear synchronization; Phase synchronization; Generalized synchronization; Information based techniques; Phase level value; Partial directed coherence; Alzheimer's; Autism; Alcoholism; Schizophrenia ID MUTUAL INFORMATION ANALYSIS; PARTIAL DIRECTED COHERENCE; LINEAR-DEPENDENCE; ELUSIVE CONCEPT; TIME-SERIES; EEG DATA; MODEL; SIGNALS; SYNCHRONIZATION; ELECTROENCEPHALOGRAM AB Brain connectivity can be modeled and quantified with a large number of techniques. The main objective of this paper is to present the most modern and widely established mathematical methods for calculating connectivity that is commonly applied to functional high resolution multichannel neurophysiological signals, including electroencephalographic (EEG) and magnetoencephalographic (MEG) signals. A historical timeline of each technique is outlined along with some illustrative applications. The most crucial underlying assumptions of the presented methodologies are discussed in order to help the reader understand where each technique fits into the bigger picture of measuring brain connectivity. In this endeavor, linear, nonlinear, causality-assessing and information-based techniques are summarized in the framework of measuring functional and effective connectivity. Model based vs. data-driven techniques and bivariate vs. multivariate methods are also discussed. Finally, certain important caveats (i.e. stationarity assumption) pertaining to the applicability of the methods are also illustrated along with some examples of clinical applications. (C) 2011 Elsevier Ltd. All rights reserved. C1 Inst Comp Sci, Fdn Res & Technol, Iraklion 71110, Crete, Greece. RP Sakkalis, V (reprint author), Inst Comp Sci, Fdn Res & Technol, POB 1385, Iraklion 71110, Crete, Greece. 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Biol. Med. PD DEC PY 2011 VL 41 IS 12 SI SI BP 1110 EP 1117 DI 10.1016/j.compbiomed.2011.06.020 PG 8 WC Biology; Computer Science, Interdisciplinary Applications; Engineering, Biomedical; Mathematical & Computational Biology SC Life Sciences & Biomedicine - Other Topics; Computer Science; Engineering; Mathematical & Computational Biology GA 863XD UT WOS:000298200700008 PM 21794851 ER PT J AU Tsiaras, V Simos, PG Rezaie, R Sheth, BR Garyfallidis, E Castillo, EM Papanicolaou, AC AF Tsiaras, Vassilis Simos, Panagiotis G. Rezaie, Roozbeh Sheth, Bhavin R. Garyfallidis, Eleftherios Castillo, Eduardo M. Papanicolaou, Andrew C. TI Extracting biomarkers of autism from MEG resting-state functional connectivity networks SO COMPUTERS IN BIOLOGY AND MEDICINE LA English DT Article DE Autism spectrum disorders; MEG; Resting-state functional connectivity; Interdependence measures; Network analysis; Graph theory ID PARTIAL DIRECTED COHERENCE; SMALL-WORLD NETWORKS; SPECTRUM DISORDERS; SENTENCE COMPREHENSION; EPILEPTIFORM ACTIVITY; MUTUAL INFORMATION; CORPUS-CALLOSUM; BRAIN; CHILDREN; EEG AB The present study is a preliminary attempt to use graph theory for deriving distinct features of resting-state functional networks in young adults with autism spectrum disorder (ASD). Networks modeled neuromagnetic signal interactions between sensors using three alternative interdependence measures: (a) a non-linear measure of generalized synchronization (robust interdependence measure [RIM]), (b) mutual information (MI), and (c) partial directed coherence (PDC). To summarize the information contained in each network model we employed well-established global graph measures (average strength, assortativity, clustering, and efficiency) as well as graph measures (average strength of edges) tailored to specific hypotheses concerning the spatial distribution of abnormalities in connectivity among individuals with ASD. Graph measures then served as features in leave-one-out classification analyses contrasting control and ASD participants. We found that combinations of regionally constrained graph measures, derived from RIM, performed best, discriminating between the two groups with 93.75% accuracy. Network visualization revealed that ASD participants displayed significantly reduced interdependence strength, both within bilateral frontal and temporal sensors, as well as between temporal sensors and the remaining recording sites, in agreement with previous studies of functional connectivity in this disorder. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Tsiaras, Vassilis] Univ Crete, Dept Comp Sci, GR-71409 Iraklion, Crete, Greece. [Simos, Panagiotis G.] Univ Crete, Dept Psychol, GR-74100 Rethimnon, Crete, Greece. [Rezaie, Roozbeh; Castillo, Eduardo M.; Papanicolaou, Andrew C.] Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Houston, TX USA. [Sheth, Bhavin R.] Univ Houston, Dept Elect & Comp Engn, Houston, TX 77204 USA. [Garyfallidis, Eleftherios] MRC Cognit & Brain Sci Unit, Cambridge CB27EF, England. RP Tsiaras, V (reprint author), Univ Crete, Dept Comp Sci, GR-71409 Iraklion, Crete, Greece. 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Biol. Med. PD DEC PY 2011 VL 41 IS 12 SI SI BP 1166 EP 1177 DI 10.1016/j.compbiomed.2011.04.004 PG 12 WC Biology; Computer Science, Interdisciplinary Applications; Engineering, Biomedical; Mathematical & Computational Biology SC Life Sciences & Biomedicine - Other Topics; Computer Science; Engineering; Mathematical & Computational Biology GA 863XD UT WOS:000298200700013 PM 21592470 ER PT J AU Cusmai, R Moavero, R Bombardieri, R Vigevano, F Curatolo, P AF Cusmai, Raffaella Moavero, Romina Bombardieri, Roberta Vigevano, Federico Curatolo, Paolo TI Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis SO EPILEPSY & BEHAVIOR LA English DT Article DE Tuberous sclerosis; Vigabatrin; Seizures; Epilepsy outcome; Intellectual disability ID INFANTILE SPASMS; MENTAL-RETARDATION; COMPLEX; VIGABATRIN; SEIZURES; EXPRESSION; DISORDER; DEFICITS; AUTISM AB In tuberous sclerosis complex, early seizure onset is associated with high risk of intractable epilepsy and cognitive/behavioral impairment. We retrospectively evaluated the long-term outcome of 44 infants presenting with seizures in the first 12 months who received vigabatrin, and were followed up for at least 3.5 years. At the final evaluation 55% of patients were still having seizures, 80% had intellectual disability, and 30% had autism. Sixty-five percent of children who had been treated earlier with vigabatrin after seizure onset achieved seizure freedom, compared with 24% of subjects who received vigabatrin treatment later (P<0.01). Intellectual disability was present in 61% of the children treated early (group A) and in 100% of the children treated later (group B). Nine percent of group A and 52% of group B had autism (P approximate to 0.001). A shorter gap between seizure onset and start of treatment could reduce the risk of epileptic encephalopathy, minimizing the deleterious effect of seizures, but is not able to completely reverse the tuberous sclerosis complex-associated cognitive impairment. (C) 2011 Elsevier Inc. All rights reserved. C1 [Moavero, Romina; Bombardieri, Roberta; Curatolo, Paolo] Univ Hosp Tor Vergata, Pediat Neurol Unit, Dept Neurosci, Rome, Italy. [Cusmai, Raffaella; Vigevano, Federico] Bambino Gesu Pediat Hosp, Div Neurol, Rome, Italy. RP Curatolo, P (reprint author), Univ Hosp Tor Vergata, Pediat Neurol Unit, Dept Neurosci, Rome, Italy. 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PD DEC PY 2011 VL 22 IS 4 BP 735 EP 739 DI 10.1016/j.yebeh.2011.08.037 PG 5 WC Behavioral Sciences; Clinical Neurology; Psychiatry SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry GA 862CO UT WOS:000298067600017 PM 22142783 ER PT J AU Li, N Chen, G Song, XM Du, W Zheng, XY AF Li, Ning Chen, Gong Song, Xinming Du, Wei Zheng, Xiaoying TI Prevalence of autism-caused disability among Chinese children: A national population-based survey SO EPILEPSY & BEHAVIOR LA English DT Article DE Autism; Disability; Chinese population; Prevalence ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PRESCHOOL-CHILDREN; EPILEPSY; ATTENTION; AREA; ADHD AB Few articles in English have discussed the prevalence of autism in China. The work described here was aimed at estimating the prevalence rate of autism-caused disability among Chinese children and exploring family environmental factors associated with autism based on a national population sample. Data for this study were derived from the Second China National Sample Survey on Disability. A weighted number of 77,301 disabled children affected by autism were identified, yielding a prevalence rate of 2.38/10,000. A history of mental disorders in adults was strongly associated with autism. The prevalence of autism in Chinese children was underestimated, and the lack of qualified professionals able to identify and diagnose autism was the main reason. Countermeasures are warranted to obtain a more precise overview of autism in China. (C) 2011 Elsevier Inc. All rights reserved. C1 [Zheng, Xiaoying] Peking Univ, Inst Populat Res, WHO Collaborating Ctr Reprod Hlth & Populat, Beijing 100871, Peoples R China. RP Zheng, XY (reprint author), Peking Univ, Inst Populat Res, WHO Collaborating Ctr Reprod Hlth & Populat, Beijing 100871, Peoples R China. EM xzheng@pku.edu.cn FU State Key Development Program of Basic Research of China (973) [2007CB511901]; MOE; State Key Funds of Social Science Project (Research on Disability Prevention Measurement in China) [09ZD072]; NHMRC FX This study was supported by the State Key Development Program of Basic Research of China (973No. 2007CB511901), Yang Zi Program of MOE, State Key Funds of Social Science Project (Research on Disability Prevention Measurement in China, No. 09&ZD072). W.D. is supported by an NHMRC exchange program. CR American Centers for Disease Control and Prevention, 2007, MMWR Morbid Mortal Wkly Rep, P1 American Psychiatric Association, 2000, DIAGN STAT MAN MENT [Anonymous], CHINA DAILY [Anonymous], PEOPLES DAILY Baird G, 2000, J AM ACAD CHILD PSY, V39, P694, DOI 10.1097/00004583-200006000-00007 Band G, 2006, Lancet, V368, P210 Barkley R. 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PD DEC PY 2011 VL 22 IS 4 BP 786 EP 789 DI 10.1016/j.yebeh.2011.10.002 PG 4 WC Behavioral Sciences; Clinical Neurology; Psychiatry SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry GA 862CO UT WOS:000298067600025 PM 22079437 ER PT J AU Montgomery, J Storey, K Post, M Lemley, J AF Montgomery, Joyce Storey, Keith Post, Michal Lemley, Jacky TI The use of auditory prompting systems for increasing independent performance of students with autism in employment training SO INTERNATIONAL JOURNAL OF REHABILITATION RESEARCH LA English DT Article DE autism; employment; independent performance; self-management; self-operated auditory prompts; transition ID MODERATE MENTAL-RETARDATION; SEVERE DISABILITIES; INTERVENTION; SETTINGS AB In this study a self-operated auditory prompting system is introduced to determine if it can increase the on-task behavior for two students with autism participating in an employment training program. In addition, the amount of prompts provided by support staff is measured. The self-operated auditory prompting system consisted of tape recordings of music interspersed with prompts of self-evaluation and encouragement related to the job tasks being performed in the employment setting. The results of the study indicated a potential positive relationship between the self-operated auditory prompting system and the on-task behavior of the participants as well as a positive relationship between the decreased amounts of prompts used by support staff. C1 [Montgomery, Joyce; Storey, Keith; Post, Michal] Touro Univ Coll Educ, Vallejo, CA 94592 USA. [Montgomery, Joyce; Lemley, Jacky] Vallejo City Unified Sch Dist, Transit Program, Vallejo, CA USA. RP Montgomery, J (reprint author), Touro Univ Coll Educ, 1310 Johnson Lane, Vallejo, CA 94592 USA. 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PD DEC PY 2011 VL 34 IS 4 BP 330 EP 335 DI 10.1097/MRR.0b013e32834a8fa8 PG 6 WC Rehabilitation SC Rehabilitation GA 872XQ UT WOS:000298845200009 PM 21885987 ER PT J AU Sienaert, P Rooseleer, J De Fruyt, J AF Sienaert, Pascal Rooseleer, Jonas De Fruyt, Jurgen TI Measuring catatonia: A systematic review of rating scales SO JOURNAL OF AFFECTIVE DISORDERS LA English DT Review DE Catatonia; Rating scales; Diagnostic criteria ID NEUROLEPTIC MALIGNANT SYNDROME; ELECTROCONVULSIVE-THERAPY; BEHAVIORAL-DISORDERS; PSYCHOTIC DISORDERS; MOTOR DISORDERS; SCHIZOPHRENIA; POPULATION; LORAZEPAM; FEATURES; AUTISM AB Background: Despite a growing scientific and clinical interest in catatonia, its precise definition remains debated. Aim: The aim of this study was to offer a systematic review of the different rating scales that have been developed to assess catatonia in clinical practice. Methods: A Medline-search was performed, up to December 2010. Results: Seven catatonia rating scales were retrieved: the Modified Rogers Scale, the Rogers Catatonia Scale, the Bush-Francis Catatonia Rating Scale (BFCRS), and its revision, the Northoff Catatonia Rating Scale (NCRS), the Braunig Catatonia Rating Scale (BCRS), and the Kanner Scale. Conclusion: Several catatonia rating scales are proposed to detect the catatonic syndrome and to evaluate treatment response. BFCRS, NCRS and BCRS are reliable for use in variable populations in which catatonia is prevalent. The BFCRS is preferred for routine use, because of its validity and reliability, and its ease of administration. (C) 2011 Elsevier B.V. All rights reserved. C1 [Sienaert, Pascal; Rooseleer, Jonas] Katholieke Univ Leuven, ECT Dept, Univ Psychiat Ctr, B-3070 Kortenberg, Belgium. [Sienaert, Pascal; Rooseleer, Jonas] Katholieke Univ Leuven, Dept Mood Disorders, Univ Psychiat Ctr, B-3070 Kortenberg, Belgium. 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Aguilar, Jeannie M. Rispoli, Mandy Lang, Russell TI EVALUATION OF THE RATE OF PROBLEM BEHAVIOR MAINTAINED BY DIFFERENT REINFORCERS ACROSS PREFERENCE ASSESSMENTS SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; developmental disability; ecological validity; preference assessment; problem behavior ID DURATION-BASED MEASURES; FUNCTIONAL-ANALYSIS; DEVELOPMENTAL-DISABILITIES; STIMULUS PREFERENCE AB The rates of problem behavior maintained by different reinforcers were evaluated across 3 preference assessment formats (i.e., paired stimulus, multiple-stimulus without replacement, and free operant). The experimenter administered each assessment format 5 times in a random order for 7 children with developmental disabilities whose problem behavior was maintained by attention, tangible items, or escape. Results demonstrated different effects related to the occurrence of problem behavior, suggesting an interaction between function of problem behavior and assessment format. Implications for practitioners are discussed with respect to assessing preferences of individuals with developmental disabilities who exhibit problem behavior. C1 [Kang, Soyeon] Univ Texas Austin, Dept Special Educ, Univ Stn D5300 1, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA. [Rispoli, Mandy] Texas A&M Univ, College Stn, TX 77843 USA. [Lang, Russell] Texas State Univ San Marcos, San Marcos, TX USA. RP Kang, S (reprint author), Univ Texas Austin, Dept Special Educ, Univ Stn D5300 1, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA. EM soyeon.caleb@gmail.com CR DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 DeLeon IG, 2001, J APPL BEHAV ANAL, V34, P463, DOI 10.1901/jaba.2001.34-463 DeLeon IG, 1999, J APPL BEHAV ANAL, V32, P111, DOI 10.1901/jaba.1999.32-111 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Hagopian LP, 2001, J APPL BEHAV ANAL, V34, P475, DOI 10.1901/jaba.2001.34-475 Hagopian LP, 2004, BEHAV MODIF, V28, P668, DOI 10.1177/0145445503259836 IWATA BA, 1994, J APPL BEHAV ANAL, V27, P197, DOI 10.1901/jaba.1994.27-197 Kang S, 2010, J APPL BEHAV ANAL, V43, P137, DOI 10.1901/jaba.2010.43-137 Kodak T, 2009, RES DEV DISABIL, V30, P1068, DOI 10.1016/j.ridd.2009.02.010 Lalli JS, 1999, J APPL BEHAV ANAL, V32, P285, DOI 10.1901/jaba.1999.32-285 Lalli JS, 1998, J APPL BEHAV ANAL, V31, P79, DOI 10.1901/jaba.1998.31-79 Lang R, 2010, J APPL BEHAV ANAL, V43, P113, DOI 10.1901/jaba.2010.43-113 Ringdahl JE, 1997, J APPL BEHAV ANAL, V30, P203, DOI 10.1901/jaba.1997.30-203 Roane HS, 1998, J APPL BEHAV ANAL, V31, P605, DOI 10.1901/jaba.1998.31-605 Roscoe EM, 1999, J APPL BEHAV ANAL, V32, P479, DOI 10.1901/jaba.1999.32-479 WINDSOR J, 1994, RES DEV DISABIL, V15, P439, DOI 10.1016/0891-4222(94)90028-0 Worsdell AS, 2002, J APPL BEHAV ANAL, V35, P287, DOI 10.1901/jaba.2002.35-287 NR 17 TC 3 Z9 3 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD WIN PY 2011 VL 44 IS 4 BP 835 EP 846 DI 10.1901/jaba.2011.44-835 PG 12 WC Psychology, Clinical SC Psychology GA 874DF UT WOS:000298934900011 PM 22219533 ER PT J AU Petursdottir, AI Carr, JE AF Petursdottir, Anna Ingeborg Carr, James E. TI A REVIEW OF RECOMMENDATIONS FOR SEQUENCING RECEPTIVE AND EXPRESSIVE LANGUAGE INSTRUCTION SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Review DE autism treatment; expressive language; language intervention; listener behavior; receptive language; tacts; verbal behavior ID INTENSIVE BEHAVIORAL INTERVENTION; CROSS MODAL GENERALIZATION; RETARDED DEAF GIRL; AUTISTIC-CHILDREN; YOUNG-CHILDREN; COMPREHENSION; ACQUISITION; CATEGORIZATION; TRANSFORMATION; EQUIVALENCE AB We review recommendations for sequencing instruction in receptive and expressive language objectives in early and intensive behavioral intervention (EIBI) programs. Several books recommend completing receptive protocols before introducing corresponding expressive protocols. However, this recommendation has little empirical support, and some evidence exists that the reverse sequence may be more efficient. Alternative recommendations include teaching receptive and expressive skills simultaneously (M. L. Sundberg & Partington, 1998) and building learning histories that lead to acquisition of receptive and expressive skills without direct instruction (Greer & Ross, 2008). Empirical support for these recommendations also is limited. Future research should assess the relative efficiency of receptive-before-expressive, expressive-before-receptive, and simultaneous training with children who have diagnoses of autism spectrum disorders. In addition, further evaluation is needed of the potential benefits of multiple-exemplar training and other variables that may influence the efficiency of receptive and expressive instruction. C1 [Petursdottir, Anna Ingeborg] Texas Christian Univ, Dept Psychol, Ft Worth, TX 76129 USA. [Carr, James E.] Auburn Univ, Auburn, AL 36849 USA. RP Petursdottir, AI (reprint author), Texas Christian Univ, Dept Psychol, Box 298920, Ft Worth, TX 76129 USA. EM a.petursdottir@tcu.edu CR Arntzen E, 2002, J APPL BEHAV ANAL, V35, P419, DOI 10.1901/jaba.2002.35-419 Barbera M. L., 2007, VERBAL BEHAV APPROAC Barnes-Holmes D, 2000, BEHAV ANALYST, V23, P69 Barnes-Holmes Y., 2004, INT J PSYCHOL PSYCHO, V4, P531 Barnes-Holmes Y, 2001, PSYCHOL REC, V51, P287 BARNES-HOLMES Y., 2001, PSYCHOL REC, V51, P569 Berens NM, 2007, J APPL BEHAV ANAL, V40, P45, DOI 10.1901/jaba.2007.7-06 CARR EG, 1985, J APPL BEHAV ANAL, V18, P111, DOI 10.1901/jaba.1985.18-111 Carr J. 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PD WIN PY 2011 VL 44 IS 4 BP 859 EP 876 DI 10.1901/jaba.2011.44-859 PG 18 WC Psychology, Clinical SC Psychology GA 874DF UT WOS:000298934900013 PM 22219535 ER PT J AU Keintz, KS Miguel, CF Kao, B Finn, HE AF Keintz, Krista S. Miguel, Caio F. Kao, Betty Finn, Heather E. TI USING CONDITIONAL DISCRIMINATION TRAINING TO PRODUCE EMERGENT RELATIONS BETWEEN COINS AND THEIR VALUES IN CHILDREN WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE money; autism; coin equivalence; emergent relations; stimulus equivalence ID STIMULUS; EQUIVALENCE AB The current study evaluated the effects of conditional discrimination (listener) training with coins on the emergence of novel stimulus relations, textual behavior, tacts, and intraverbals. Two preschoolers with autism were taught 3 relations among coins, their names, and values. After initial training, 4 relations emerged for the first participant and 7 for the second participant, suggesting that this technology can be incorporated into educational curricula for teaching prerequisite money skills to children with autism. C1 [Miguel, Caio F.] Calif State Univ Sacramento, Dept Psychol, Sacramento, CA 95819 USA. RP Miguel, CF (reprint author), Calif State Univ Sacramento, Dept Psychol, 6000 J St, Sacramento, CA 95819 USA. EM miguelc@csus.edu CR Groskreutz NC, 2010, J APPL BEHAV ANAL, V43, P131, DOI 10.1901/jaba.2010.43-131 Higbee TS, 2000, RES DEV DISABIL, V21, P61, DOI 10.1016/S0891-4222(99)00030-X LeBlanc LA, 2003, BEHAV INTERVENT, V18, P279, DOI 10.1002/bin.144 MCDONAGH EC, 1984, APPL RES MENT RETARD, V5, P177, DOI 10.1016/S0270-3092(84)80001-6 Miguel CF, 2009, J APPL BEHAV ANAL, V42, P703, DOI 10.1901/jaba.2009.42-703 Petursdottir AI, 2009, J APPL BEHAV ANAL, V42, P685, DOI 10.1901/jaba.2009.42-685 Rehfeldt RA, 2011, J APPL BEHAV ANAL, V44, P109, DOI 10.1901/jaba.2011.44-109 Sidman M., 1994, EQUIVALENCE RELATION STODDARD LT, 1989, RES DEV DISABIL, V10, P413, DOI 10.1016/0891-4222(89)90041-3 TRACE MW, 1977, J APPL BEHAV ANAL, V10, P85, DOI 10.1901/jaba.1977.10-85 NR 10 TC 2 Z9 2 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD WIN PY 2011 VL 44 IS 4 BP 909 EP 913 DI 10.1901/jaba.2011.44-909 PG 5 WC Psychology, Clinical SC Psychology GA 874DF UT WOS:000298934900017 PM 22219539 ER PT J AU Howlett, MA Sidener, TM Progar, PR Sidener, DW AF Howlett, Melissa A. Sidener, Tina M. Progar, Patrick R. Sidener, David W. TI MANIPULATION OF MOTIVATING OPERATIONS AND USE OF A SCRIPT-FADING PROCEDURE TO TEACH MANDS FOR LOCATION TO CHILDREN WITH LANGUAGE DELAYS SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE motivating operations; mand; script fading ID AUTISM AB The effects of contriving motivating operations (MOs) and script fading on the acquisition of the mand "Where's [object]?" were evaluated in 2 boys with language delays. During each session, trials were alternated in which high-preference items were present (abolishing operation [AO] trials) or missing (establishing operation [EO] trials) from their typical locations. Both participants learned to mand during EO trials and not to mand during AO trials during training. Generalization of manding was demonstrated across novel instructors, stimuli, and settings and maintained 3 to 4 weeks following the intervention. C1 [Sidener, Tina M.] Caldwell Coll, Dept Appl Behav Anal, Caldwell, NJ 07006 USA. RP Sidener, TM (reprint author), Caldwell Coll, Dept Appl Behav Anal, 120 Bloomfield Ave, Caldwell, NJ 07006 USA. EM tsidener@caldwell.edu CR Brown JL, 2008, RES AUTISM SPECT DIS, V2, P480, DOI 10.1016/j.rasd.2007.08.006 Calloway C. J., 1999, FOCUS AUTISM OTHER D, V14, P140, DOI 10.1177/108835769901400303 CHARLOP MH, 1989, J APPL BEHAV ANAL, V22, P275, DOI 10.1901/jaba.1989.22-275 Cowan RJ, 2007, PSYCHOL SCHOOLS, V44, P701, DOI 10.1002/pits.20259 Endicott K, 2007, RES AUTISM SPECT DIS, V1, P210, DOI 10.1016/j.rasd.2006.10.003 Green G., 2001, FOCUS AUTISM OTHER D, V16, P72, DOI 10.1177/108835760101600203 Koegel R. L., 1995, TEACHING CHILDREN AU Krantz PJ, 1998, J APPL BEHAV ANAL, V31, P191, DOI 10.1901/jaba.1998.31-191 KRANTZ PJ, 1993, J APPL BEHAV ANAL, V26, P121, DOI 10.1901/jaba.1993.26-121 Sundberg M. L., 2002, ANAL VERBAL BEHAV, V18, P15 Sundberg ML, 2001, BEHAV MODIF, V25, P698, DOI 10.1177/0145445501255003 Zimmerman I. L., 2002, Preschool language scale NR 12 TC 1 Z9 1 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD WIN PY 2011 VL 44 IS 4 BP 943 EP 947 DI 10.1901/jaba.2011.44-943 PG 5 WC Psychology, Clinical SC Psychology GA 874DF UT WOS:000298934900023 PM 22219545 ER PT J AU Kliebert, ML Tiger, JH AF Kliebert, Megan L. Tiger, Jeffrey H. TI DIRECT AND DISTAL EFFECTS OF NONCONTINGENT JUICE ON RUMINATION EXHIBITED BY A CHILD WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; noncontingent reinforcement; rumination ID FUNCTIONAL-ANALYSIS; DEVELOPMENTAL-DISABILITIES; INTERVENTION AB Previous research has demonstrated the efficacy of the noncontingent delivery of foods and liquids at suppressing rumination, the repeated regurgitation and rechewing of partially digested food. However, it is unclear how long this reduction is maintained after caregivers terminate this procedure. The current study examined the direct and distal effects of noncontingent juice on rumination by measuring the duration of rumination during juice delivery and immediately following the termination of juice delivery. Noncontingent juice suppressed rumination, but this suppression was not maintained after delivery termination. C1 [Kliebert, Megan L.; Tiger, Jeffrey H.] Louisiana State Univ, Baton Rouge, LA 70803 USA. 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A., 1997, BEHAV INTERVENT, V12, P55, DOI 10.1002/(SICI)1099-078X(199704)12:2<55::AID-BIN167>3.0.CO;2-7 Wilder DA, 2009, J APPL BEHAV ANAL, V42, P877, DOI 10.1901/jaba.2009.42-877 NR 13 TC 1 Z9 1 PU JOURNAL APPL BEHAV ANAL PI LAWRENCE PA DEPT HUMAN DEVELOPMENT, UNIV KANSAS, LAWRENCE, KS 66045 USA SN 0021-8855 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD WIN PY 2011 VL 44 IS 4 BP 955 EP 959 DI 10.1901/jaba.2011.44-955 PG 5 WC Psychology, Clinical SC Psychology GA 874DF UT WOS:000298934900025 PM 22219547 ER PT J AU Menezo, Y Mares, P Cohen, M Brack, M Viville, S Elder, K AF Menezo, Yves Mares, Pierre Cohen, Marc Brack, Michel Viville, Stephane Elder, Kay TI Autism, imprinting and epigenetic disorders: a metabolic syndrome linked to anomalies in homocysteine recycling starting in early life?? SO JOURNAL OF ASSISTED REPRODUCTION AND GENETICS LA English DT Editorial Material ID DNA HYPOMETHYLATION; OXIDATIVE STRESS; CHILDREN; METHYLATION; GENE; POLYMORPHISM C1 [Elder, Kay] Bourn Hall Clin Bourn, Cambridge CB23 2TN, England. [Menezo, Yves] UNILABS Clin Cotentin, F-75116 Paris, France. [Mares, Pierre] GHU Caremeau, Dept Gynecol & Obstet, F-30029 Nimes, France. [Menezo, Yves; Cohen, Marc] Procrelys, F-69008 Lyon, France. [Brack, Michel] Univ Paris 06, Clin Alleray Labrousse, F-75013 Paris, France. [Viville, Stephane] Univ Strasbourg, CNRS, INSERM, IGBMC,U964,UMR 1704, F-67404 Illkirch Graffenstaden, France. RP Elder, K (reprint author), Bourn Hall Clin Bourn, Cambridge CB23 2TN, England. 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Assist. Reprod. Genet. PD DEC PY 2011 VL 28 IS 12 BP 1143 EP 1145 DI 10.1007/s10815-011-9645-2 PG 3 WC Genetics & Heredity; Obstetrics & Gynecology; Reproductive Biology SC Genetics & Heredity; Obstetrics & Gynecology; Reproductive Biology GA 864HJ UT WOS:000298228400002 PM 22048978 ER PT J AU Maayan, L Correll, CU AF Maayan, Lawrence Correll, Christoph U. TI Weight Gain and Metabolic Risks Associated with Antipsychotic Medications in Children and Adolescents SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID PLACEBO-CONTROLLED TRIAL; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PEDIATRIC BIPOLAR DISORDER; EARLY-ONSET SCHIZOPHRENIA; TYPE-2 DIABETES-MELLITUS; PERVASIVE DEVELOPMENTAL DISORDERS; RANDOMIZED CLINICAL-TRIAL; BODY-MASS INDEX; DOUBLE-BLIND; 2ND-GENERATION ANTIPSYCHOTICS AB Background: Antipsychotic-related weight gain and metabolic adverse effects have become a major focus, especially in youth. Methods: Review of randomized, cohort, and pharmacoepidemiologic studies of antipsychotic-related weight gain and metabolic adverse effects and of interventions for their reduction in youth. Results: Across 34 published head-to-head and placebo-controlled studies in youth with psychotic and bipolar disorders, weight gain ranged from 3.8 to 16.2 kg with olanzapine (n = 353), 0.9-9.5 kg with clozapine (n = 97), 1.9-7.2 kg with risperidone (n = 571), 2.3-6.1 kg with quetiapine (n = 133), and 0-4.4 kg with aripiprazole (n = 451). In 24 placebo-controlled trials, the numbers-needed-to-harm for weight gain >= 7% in youth with bipolar disorder and schizophrenia were 39 (confidence interval [CI]: -1 to +6, not significant) for aripiprazole, 36 (CI: -1 to +7, not significant) for ziprasidone, 9 (CI: 7-14) for quetiapine, 6 (CI: 5-8) for risperidone, and 3 (CI: 3-4) for olanzapine. Data in youth with autism and disruptive behavior disorders, available only for some antipsychotics, suggest greater weight gain, possibly due to less prior antipsychotic exposure. Three-month results from a large cohort study in antipsychotic-naive youth indicated that metabolic effects differ among second-generation antipsychotics, despite significant weight gain with all studied agents, suggesting additional, weight-independent effects. Further, pharmacoepidemiologic work indicates that antipsychotic polypharmacy increases the risk for obesity (odds ratio [OR]: 2.28 [CI: 1.49-3.65]) or any cardiovascular, cerebrovascular, or hypertensive adverse event (OR: 1.72 [CI: 1.10-2.69]). However, despite marked weight gain and its greater impact on youth, monitoring rates are low and studies of pharmacologic and behavioral interventions are extremely limited. Conclusions: More research is needed to develop strategies to minimize antipsychotic-related weight gain and metabolic effects in youth and to discover treatments with lower risk potential. C1 [Correll, Christoph U.] N Shore Long Isl Jewish Hlth Syst, Zucker Hillside Hosp, Glen Oaks, NY 11004 USA. [Maayan, Lawrence] Nathan S Kline Inst Psychiat Res, Orangeburg, NY USA. [Maayan, Lawrence] NYU, Sch Med, Ctr Child Study, New York, NY USA. [Correll, Christoph U.] Albert Einstein Coll Med, Bronx, NY 10467 USA. [Correll, Christoph U.] N Shore Long Isl Jewish Hlth Syst, Feinstein Inst Med Res, Manhasset, NY USA. RP Correll, CU (reprint author), N Shore Long Isl Jewish Hlth Syst, Zucker Hillside Hosp, 75-59 263rd St, Glen Oaks, NY 11004 USA. EM ccorrell@lij.edu RI Correll, Christoph/D-3530-2011 FU Eli Lilly; Pfizer; Zucker Hillside Hospital NIMH Advanced Center for Intervention and Services Research for the Study of Schizophrenia [MH 074543-01]; Stanley Medical Research Institute [07TGF-1112] FX Dr. Maayan has received research support from Eli Lilly and Pfizer. Dr. Correll has been a consultant to or has received honoraria from Actelion, AstraZeneca, Bristol-Myers Squibb, Cephalon, Eli Lilly, GSK, Intra-Cellular Therapies, Janssen/J&J, Lundbeck, Otsuka, Medicure, Merck, Pfizer, Schering-Plough, Sepracor/Sunovion, Supernus Takeda, and VandaThis study was supported in parts by The Zucker Hillside Hospital NIMH Advanced Center for Intervention and Services Research for the Study of Schizophrenia MH 074543-01 and by the Stanley Medical Research Institute Award 07TGF-1112. The authors would like to thank Allison Larr for her help in the preparation of this manuscript. 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Child Adolesc. Psychopharmacol. PD DEC PY 2011 VL 21 IS 6 BP 517 EP 535 DI 10.1089/cap.2011.0015 PG 19 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 866RP UT WOS:000298399800003 PM 22166172 ER PT J AU Tobiasova, Z van der Lingen, KHB Scahill, L Leckman, JF Zhang, Y Chae, W McCracken, JT McDougle, CJ Vitiello, B Tierney, E Aman, MG Arnold, LE Katsovich, L Hoekstra, PJ Volkmar, F Bothwell, ALM Kawikova, I AF Tobiasova, Zuzana van der Lingen, Klaas H. B. Scahill, Lawrence Leckman, James F. Zhang, Yan Chae, Wookjin McCracken, James T. McDougle, Christopher J. Vitiello, Benedetto Tierney, Elaine Aman, Michael G. Arnold, L. Eugene Katsovich, Liliya Hoekstra, Pieter J. Volkmar, Fred Bothwell, Alfred L. M. Kawikova, Ivana TI Risperidone-Related Improvement of Irritability in Children with Autism Is not Associated with Changes in Serum of Epidermal Growth Factor and Interleukin-13 SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; NECROTIZING ENTEROCOLITIS; SCHIZOPHRENIC-PATIENTS; ANTIBRAIN ANTIBODIES; CEREBROSPINAL-FLUID; CYTOKINE PRODUCTION; INTESTINAL BARRIER; IMMUNE-RESPONSES; NITRIC-OXIDE AB Risperidone has been shown to improve serious behavioral problems in children with autism. Here we asked whether risperidone-associated improvement was related to changes in concentrations of inflammatory molecules in the serum of these subjects. Seven molecules were identified as worthy of further assessment by performing a pilot analysis of 31 inflammatory markers in 21 medication-free subjects with autism versus 15 healthy controls: epidermal growth factor (EGF), interferon-gamma (IFN-gamma), interleukin (IL)-13, IL-17, monocyte chemoattractant protein-1 (MCP-1), IL-1 and IL-1-receptor antagonist. Serum concentrations of these markers were then established in a different set of subjects that participated in a double-blind, clinical trial and an expanded group of healthy subjects. In the first analysis, samples obtained from subjects with autism at baseline visits were compared to visits after 8-week treatment with placebo (n = 37) or risperidone (n = 40). The cytokine concentrations remained stable over the 8-week period for both risperidone and placebo groups. In the second analysis, we explored further the differences between medication-free subjects with autism (n = 77) and healthy controls (recruited independently; n = 19). Serum levels of EGF were elevated in subjects with autism (median = 103 pg/mL, n = 75) in comparison to healthy controls (75 pg/mL, n = 19; p<0.05), and levels of IL-13 were decreased in autism (median = 0.8 pg/mL, n = 77) in comparison to controls (9.8 pg/mL, n = 19; p = 0.0003). These changes did not correlate with standardized measures used for a diagnosis of autism. In summary, risperidone-induced clinical improvement in subjects with autism was not associated with changes in the serum inflammatory markers measured. Whether altered levels of EGF and IL-13 play a role in the pathogenesis or phenotype of autism requires further investigation. C1 [Tobiasova, Zuzana; van der Lingen, Klaas H. B.; Zhang, Yan; Chae, Wookjin; Kawikova, Ivana] Yale Univ, Dept Immunobiol, Sch Med, New Haven, CT 06520 USA. [van der Lingen, Klaas H. B.; Leckman, James F.; Volkmar, Fred] Yale Univ, Ctr Child Study, Sch Med, New Haven, CT 06520 USA. [Scahill, Lawrence] Yale Univ, Sch Nursing, New Haven, CT 06520 USA. [McCracken, James T.] Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst, Div Child & Adolescent Psychiat, Los Angeles, CA 90095 USA. [McDougle, Christopher J.] Indiana Univ Sch Med, Dept Psychiat, Indianapolis, IN USA. [Vitiello, Benedetto] NIMH, Bethesda, MD 20892 USA. [Tierney, Elaine] Johns Hopkins Univ, Sch Med, Dept Psychiat, Kennedy Krieger Inst, Baltimore, MD 21205 USA. [Aman, Michael G.] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA. [Arnold, L. Eugene] Ohio State Univ, Dept Psychiat, Columbus, OH 43210 USA. [van der Lingen, Klaas H. B.; Hoekstra, Pieter J.] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, NL-9700 AB Groningen, Netherlands. RP Kawikova, I (reprint author), Yale Univ, Dept Immunobiol, Sch Med, 630 TAC,300 Cedar St, New Haven, CT 06520 USA. EM ivana.kawikova@yale.edu RI Hoekstra, Pieter/O-4396-2014 FU NIMH [N01MH70001, N01MH80011, N01MH70010, MH01805, N01MH70009]; Czech Ministry of Education [MSM 0021620812]; Klaas van der Lingen by Groningen University; Bristol-Myers Squibb Co.; [1474] FX Autism Speaks grant number 1474 to Ivana Kawikova, NIMH grant N01MH70001 to Indiana University, NIMH grant number N01MH80011 to Ohio State University, NIMH grants N01MH70010 and MH01805 to University of California Los Angeles, NIMH grant N01MH70009 to Yale.This study was supported by a grant from Autism Speaks (to Dr. Kawikova). Dr. Tobiasova was partially supported by Czech Ministry of Education (MSM 0021620812) and Klaas van der Lingen by Groningen University Fund. The analysis was performed on archived samples collected during previous studies performed by the Research Units on Pediatric Psychopharmacology (RUPP) Autism Network: Dr. McCracken at University of California Los Angeles; Dr. Aman at Ohio State University; Dr. McDougle at Indiana University; Dr. Scahill at Yale University; Dr. Tierney at Kennedy Krieger Institute. The RUPP network was funded by NIMH: N01MH70001 to IU, N01MH80011 to OSU, N01MH70010 and MH01805 to UCLA, N01MH70009 to Yale. Collection of serum samples of healthy controls was supported by The Brian and Linda Richmand Foundation at Yale University (to Dr. Leckman). Christopher J. McDougle is a consultant to Bristol-Myers Squibb Co., F. Hoffmann-LaRoche, Ltd., and Forest Research Institute; has received research grants from Bristol-Myers Squibb Co., and is a member of the speaker's bureau for Bristol-Myers Squibb Co. Pieter Hoekstra has been paid consultant for Shire, Eli Lilly, and Desitin. James McCracken has had research contracts with Seaside, Bristol-Myers Squibb, has been consultant for Shionogi, BioMarin and receives honoraria from CME Outfitters, Veritas, Tourette Syndrome Association and APSARD. Drs. Zhang, Chae, Vitiello, Arnold, Volkmar, and Bothwell and Ms. Katsovich have no conflicts of interest or financial ties to disclose. 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10.1016/j.pediatrneurol.2005.03.014 NR 68 TC 4 Z9 4 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 DEC PY 2011 VL 21 IS 6 BP 555 EP 564 DI 10.1089/cap.2010.0134 PG 10 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 866RP UT WOS:000298399800006 PM 22070180 ER PT J AU Erickson, CA Early, M Stigler, KA Wink, LK Mullett, JE McDougle, CJ AF Erickson, Craig A. Early, Maureen Stigler, Kimberly A. Wink, Logan K. Mullett, Jennifer E. McDougle, Christopher J. TI An Open-Label Naturalistic Pilot Study of Acamprosate in Youth with Autistic Disorder SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID GLUTAMATE RECEPTORS; SPECTRUM DISORDERS; DOUBLE-BLIND; CHILDREN; BRAIN; RAT; HIPPOCAMPAL; ASSOCIATION; SPERMIDINE; SYMPTOMS AB To date, placebo-controlled drug trials targeting the core social impairment of autistic disorder (autism) have had uniformly negative results. Given this, the search for new potentially novel agents targeting the core social impairment of autism continues. Acamprosate is U.S. Food and Drug Administration-approved drug to treat alcohol dependence. The drug likely impacts both gamma-aminobutyric acid and glutamate neurotransmission. This study describes our initial open-label experience with acamprosate targeting social impairment in youth with autism. In this naturalistic report, five of six youth (mean age, 9.5 years) were judged treatment responders to acamprosate (mean dose 1,110 mg/day) over 10 to 30 weeks (mean duration, 20 weeks) of treatment. Acamprosate was well tolerated with only mild gastrointestinal adverse effects noted in three (50%) subjects. C1 [Erickson, Craig A.; Early, Maureen; Stigler, Kimberly A.; Wink, Logan K.; Mullett, Jennifer E.; McDougle, Christopher J.] Indiana Univ Sch Med, Dept Psychiat, Christian Sarkine Autism Treatment Ctr, James Whitcomb Riley Hosp Children, Indianapolis, IN 46202 USA. RP Erickson, CA (reprint author), Indiana Univ Sch Med, Dept Psychiat, Christian Sarkine Autism Treatment Ctr, James Whitcomb Riley Hosp Children, 702 Barnhill Dr,Room 4300, Indianapolis, IN 46202 USA. EM crericks@iupui.edu FU Seaside Therapeutics; F. Hoffmann-LaRoche; Novartis; Bristol-Myers Squibb Co.; Forest Pharmaceuticals; National Institute of Health, Indiana University Clinical and Translational Sciences Institute [KL2 UL1 RR025761]; Division of Disability & Rehabilitative Services, Indiana Family and Social Services Administration; Mary Freedman Fellowship in Academic Psychiatry; NIMH [K23 MH082119, R01 MH072964, R01 MH077600, R01 MH083739] FX Dr. Erickson is the inventor on a patent describing use of acamprosate in autism. The patent is held by Indiana University Research and Technology Corporation. Dr. Erickson is on Scientific Advisory Boards and receives research grant support from Seaside Therapeutics, F. Hoffmann-LaRoche, and Novartis. Dr. McDougle is on the Speakers Bureau for and receives research support from Bristol-Myers Squibb Co. Dr. Stigler receives research support from Bristol-Myers Squibb Co. and Forest Pharmaceuticals.This work was supported by a National Institute of Health grant KL2 UL1 RR025761 Indiana University Clinical and Translational Sciences Institute Career Development Award (Dr. Erickson); The Division of Disability & Rehabilitative Services, Indiana Family and Social Services Administration (Drs. Erickson, Wink, McDougle); Daniel X. and Mary Freedman Fellowship in Academic Psychiatry (Dr. Stigler); NIMH grant K23 MH082119 (Dr. Stigler); and NIMH grants R01 MH072964, R01 MH077600, and R01 MH083739 (Dr. McDougle). 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Child Adolesc. Psychopharmacol. PD DEC PY 2011 VL 21 IS 6 BP 565 EP 569 DI 10.1089/cap.2011.0034 PG 5 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 866RP UT WOS:000298399800007 PM 22136091 ER PT J AU Frazier, TW Shattuck, PT Narendorf, SC Cooper, BP Wagner, M Spitznagel, EL AF Frazier, Thomas W. Shattuck, Paul T. Narendorf, Sarah Carter Cooper, Benjamin P. Wagner, Mary Spitznagel, Edward L. TI Prevalence and Correlates of Psychotropic Medication Use in Adolescents with an Autism Spectrum Disorder with and without Caregiver-Reported Attention-Deficit/Hyperactivity Disorder SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT HYPERACTIVITY DISORDER; MENTAL-HEALTH-SERVICES; CHILDREN; YOUTH; SYMPTOMS; PATTERNS; TRIAL; ADHD; ARIPIPRAZOLE AB Background: Many youths with an autism spectrum disorder (ASD) benefit from psychotropic medication treatment of comorbid symptom patterns consistent with attention-deficit/hyperactivity disorder (ADHD). The lack of clear indications and algorithms to direct clinical practice has led to a very poor understanding of overall medication use for these youths. The present study examined the prevalence of psychotropic medication use compared across individuals with an ASD without a caregiver-reported ADHD diagnosis (ASD-only), ADHD without ASD (ADHD-only), and an ASD with co-morbid ADHD (ASD + ADHD). Correlates of medication use were also examined. Methods: Data on psychotropic medication from the first wave of the National Longitudinal Transition Study 2, a nationally representative study of adolescents ages 13-17 in special education, were used to compare the prevalence of medication use across the three groups, overall and by class. Separate logistic regression models were constructed for each group to examine the correlates of psychotropic medication use. Poisson regression models were used to examine correlates of the number of medications. Results: Youths with ASD + ADHD had the highest rates of use (58.2%), followed by youths with ADHD-only (49.0%) and youths with ASD-only (34.3%). Youths with an ASD, both ASD-only and ASD + ADHD, used medications across a variety of medication classes, whereas stimulants were dominant among youths with ADHD-only. African American youths with ASD only and with ASD + ADHD were less likely to receive medication than white youths, whereas race was not associated with medication use in the ADHD-only group. Conclusions: Clearer practice parameters for ADHD have likely contributed to more consistency in treatment, whereas treatment for ASD reflects a trial and error approach based on associated symptom patterns. Additional studies examining the treatment of core and associated ASD symptoms are needed to guide pharmacologic treatment of these youths. Interventions targeting African American youths with ASD and the physicians who serve them are also warranted. C1 [Frazier, Thomas W.] Cleveland Clin, Ctr Autism, Cleveland, OH 44195 USA. [Frazier, Thomas W.] Cleveland Clin, Ctr Pediat Behav Hlth, Cleveland, OH 44195 USA. [Shattuck, Paul T.; Narendorf, Sarah Carter; Cooper, Benjamin P.] Washington Univ, George Warren Brown Sch Social Work, St Louis, MO 63130 USA. [Wagner, Mary] SRI Int, Menlo Pk, CA USA. [Spitznagel, Edward L.] Washington Univ, Dept Math, St Louis, MO 63130 USA. RP Frazier, TW (reprint author), Cleveland Clin, Ctr Autism CRS10, 9500 Euclid Ave, Cleveland, OH 44195 USA. EM fraziet2@ccf.org FU National Institute of Mental Health [R01 MH086489-01, T32-MH19960]; Organization for Autism Research; National Center for Research Resources (NCRR) [UL1 RR024989]; Shire Development, Inc.; Bristol-Myers Squibb; National Institute of Health; Brain and Behavior Research Foundation FX This research was supported with funding from the National Institute of Mental Health (R01 MH086489-01 and T32-MH19960) and the Organization for Autism Research. This publication was also made possible by the CWRU/Cleveland Clinic CTSA Grant Number UL1 RR024989 from the National Center for Research Resources (NCRR).Dr. Frazier has received federal funding or research support from, acted as a consultant to, or received travel support from Shire Development, Inc., Bristol-Myers Squibb, National Institute of Health, and the Brain and Behavior Research Foundation (formerly NARSAD). Drs. Shattuck, Narendorf, Cooper, Wagner, and Spitznagel have no financial interests to disclose. 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Child Adolesc. Psychopharmacol. PD DEC PY 2011 VL 21 IS 6 BP 571 EP 579 DI 10.1089/cap.2011.0057 PG 9 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 866RP UT WOS:000298399800008 PM 22166171 ER PT J AU Veenstra-VanderWeele, J King, BH Erickson, CA Ginsberg, LD Melmed, R Scahill, LD Sikich, L McCracken, JT Rathmell, B Carpenter, RL Bear, MF Wang, PP AF Veenstra-VanderWeele, Jeremy King, Bryan H. Erickson, Craig A. Ginsberg, Lawrence D. Melmed, Raun Scahill, Lawrence D. Sikich, Linmarie McCracken, James T. Rathmell, Barbara Carpenter, Randall L. Bear, Mark F. Wang, Paul P. TI An open Label Trial of Arbaclofen in Autism Spectrum Disorder Shows Improvements in Multiple Symptom Domains SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Meeting Abstract CT 51st Annual Meeting of the National-Institute-of-Mental-Health-New-Clinical-Drug-Evaluation-Unit CY JUN 13-16, 2011 CL Boca Raton, FL SP Natl Inst Mental Hlth(NIMH), New Clin Drug Evaluat Unit (NCDEU) ID FRAGILE-X-SYNDROME C1 [Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Nashville, TN USA. [King, Bryan H.] Univ Washington, Seattle, WA 98195 USA. [Erickson, Craig A.] Indiana Univ, Indianapolis, IN 46204 USA. [Ginsberg, Lawrence D.] Red Oak Psychiat Associates, Houston, TX USA. [Melmed, Raun] Melmed Ctr, Scottsdale, AZ USA. [Scahill, Lawrence D.] Yale Univ, New Haven, CT USA. [Sikich, Linmarie] Univ N Carolina, Chapel Hill, NC USA. [McCracken, James T.] Univ Calif Los Angeles, Los Angeles, CA USA. [Rathmell, Barbara; Carpenter, Randall L.; Wang, Paul P.] Seaside Therapeut, Cambridge, MA USA. [Bear, Mark F.] MIT, Cambridge, MA 02139 USA. CR Chang S, 2008, NAT CHEM BIOL, V4, P256, DOI 10.1038/nchembio.78 Dolen G, 2007, NEURON, V56, P955, DOI 10.1016/j.neuron.2007.12.001 NR 2 TC 0 Z9 0 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 DEC PY 2011 VL 21 IS 6 BP 637 EP 637 PG 1 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 866RP UT WOS:000298399800025 ER PT J AU Orsagh-Yentis, DK Wink, LK Stigler, KA Erickson, CA McDougle, CJ AF Orsagh-Yentis, Danielle K. Wink, Logan K. Stigler, Kimberly A. Erickson, Craig A. McDougle, Christopher J. TI Buspirone for Bruxism in a Child with Pervasive Developmental Disorder-Not Otherwise Specified SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Letter ID DIURNAL BRUXISM; AUTISM C1 [Orsagh-Yentis, Danielle K.; Wink, Logan K.; Stigler, Kimberly A.; Erickson, Craig A.; McDougle, Christopher J.] Christian Sarkine Autism Treatment Ctr, Dept Child & Adolescent Psychiat, Indianapolis, IN 46202 USA. RP Erickson, CA (reprint author), Christian Sarkine Autism Treatment Ctr, Dept Child & Adolescent Psychiat, 702 Barnhill Dr,Room 4300, Indianapolis, IN 46202 USA. 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Child Adolesc. Psychopharmacol. PD DEC PY 2011 VL 21 IS 6 BP 643 EP 645 DI 10.1089/cap.2010.0137 PG 3 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 866RP UT WOS:000298399800027 PM 22136097 ER PT J AU Cop, E Oner, P Oner, O AF Cop, Esra Oner, Pinar Oner, Ozgur TI Risperidone and Double Incontinence in a Child with Autism SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Letter ID ENURESIS C1 [Cop, Esra; Oner, Pinar; Oner, Ozgur] Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, TR-06110 Ankara, Turkey. RP Cop, E (reprint author), Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, Yenibati Mah 2026 Cad PK 06370, TR-06110 Ankara, Turkey. EM esratas77@yahoo.com CR Herguener S, 2008, PROG NEURO-PSYCHOPH, V32, P1085, DOI 10.1016/j.pnpbp.2008.02.007 Kantrowitz JT, 2006, SCHIZOPHR RES, V84, P174, DOI 10.1016/j.schres.2006.01.023 McDougle CJ, 1998, Arch Gen Psychiatry, V55, P663 Shea S, 2004, PEDIATRICS, V114, pE634, DOI 10.1542/peds.2003-0264-F Took KJ, 1996, J AM ACAD CHILD PSY, V35, P840, DOI 10.1097/00004583-199607000-00006 Vera P L, 2001, BMC Pharmacol, V1, P4, DOI 10.1186/1471-2210-1-4 NR 6 TC 0 Z9 0 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 DEC PY 2011 VL 21 IS 6 BP 647 EP 648 DI 10.1089/cap.2011.0071 PG 2 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA 866RP UT WOS:000298399800028 PM 22136093 ER PT J AU Kaiser, AP Roberts, MY AF Kaiser, Ann P. Roberts, Megan Y. TI Advances in Early Communication and Language Intervention SO JOURNAL OF EARLY INTERVENTION LA English DT Article DE language; communication; research; early intervention ID AUTISM SPECTRUM DISORDER; YOUNG-CHILDREN; JOINT ATTENTION; DEVELOPMENTAL DELAYS; EARLY PREDICTORS; DOWN-SYNDROME; TODDLERS; OUTCOMES; SKILLS; DISABILITIES AB Learning to communicate using speech and language is a primary developmental task for young children. Delays in the acquisition of language are one of the earliest indicators of developmental deficits that may affect academic and social outcomes for individuals across the life span. In the period since the passage of PL 99-457, significant progress in research related to language intervention has been made in five areas: (a) the social, symbolic, and prelinguistic foundations to spoken language; (b) parent-implemented language interventions; (c) the language foundations for literacy; (d) the relationship between language and social behavior; and (e) the use of augmented and alternative modes of communication. Although there are indications of important advances in the knowledge base of early identification as well as comprehensive and continuous intervention, preparing professionals to provide effective interventions in natural environments continues to be a challenge for the field. C1 [Kaiser, Ann P.; Roberts, Megan Y.] Vanderbilt Univ, Dept Special Educ, Nashville, TN 37203 USA. RP Kaiser, AP (reprint author), Vanderbilt Univ, Dept Special Educ, Peabody Box 228, Nashville, TN 37203 USA. 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L., 2001, COMMUNICATION DISORD, V22, P135, DOI 10.1177/152574010102200303 Weizman ZO, 2001, DEV PSYCHOL, V37, P265, DOI 10.1037//0012-1649.37.2.265 Wetherby A., 1993, COMMUNICATION SYMBOL Wetherby AM, 2006, TOP EARLY CHILD SPEC, V26, P67, DOI 10.1177/02711214060260020201 Woods J, 2004, J EARLY INTERVENTION, V26, P175, DOI 10.1177/105381510402600302 Yoder PJ, 2004, AM J MENT RETARD, V109, P285, DOI 10.1352/0895-8017(2004)109<285:EPOLIC>2.0.CO;2 Zill N., 2004 NR 56 TC 8 Z9 8 PU COUNCIL EXCEPTIONAL CHILDREN PI ARLINGTON PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA SN 1053-8151 J9 J EARLY INTERVENTION JI J. Early Interv. PD DEC PY 2011 VL 33 IS 4 BP 298 EP 309 DI 10.1177/1053815111429968 PG 12 WC Education, Special; Psychology, Educational; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 873BL UT WOS:000298855600006 ER PT J AU Strain, PS Schwartz, IS Barton, EE AF Strain, Phillip S. Schwartz, Ilene S. Barton, Erin E. TI Providing Interventions for Young Children With Autism Spectrum Disorders: What We Still Need to Accomplish SO JOURNAL OF EARLY INTERVENTION LA English DT Article DE autism spectrum disorder; early intervention; inclusion; preschool ID SUPPORT AB Over the past 25 years, we have learned a great deal about the diagnosis, treatment, and impact of autism spectrum disorders (ASD) on young children and their families. The authors describe several overarching themes that have emerged in the educational research on young children with ASD. The focus of their article is on education-based research because public education remains the one comprehensive service to which all children with ASD are entitled to free of charge. Four themes (i.e., inclusion, systematic and effective instruction, intensity, and social context) are described in terms of the major findings and impact on policy and practices. The authors conclude with a summary of implications for future research for the next 25 years. C1 [Schwartz, Ilene S.] Univ Washington, Coll Educ, Seattle, WA 98195 USA. [Strain, Phillip S.; Barton, Erin E.] Univ Colorado Denver, Sch Educ & Human Dev, Denver, CO USA. RP Schwartz, IS (reprint author), Univ Washington, Coll Educ, Box 357925, Seattle, WA 98195 USA. EM Ilene@uw.edu CR BRISTOL MM, 1988, DEV PSYCHOL, V24, P441, DOI 10.1037/0012-1649.24.3.441 Carr EG, 2007, J POSIT BEHAV INTERV, V9, P3, DOI 10.1177/10983007070090010201 Dawson G., 2009, PEDIATRICS, V125, P17 Dawson G., 1997, EFFECTIVENESS EARLY, P307 Estes A, 2011, J AUTISM DEV DISORD, V41, P1044, DOI 10.1007/s10803-010-1127-3 Ganz ML, 2007, ARCH PEDIAT ADOL MED, V161, P343, DOI 10.1001/archpedi.161.4.343 Horner RH, 2002, J AUTISM DEV DISORD, V32, P423, DOI 10.1023/A:1020593922901 Howlin P, 2009, AJIDD-AM J INTELLECT, V114, P23, DOI 10.1352/2009.114:23;nd41 Kasari C, 2001, INT REV RES MENT RET, V23, P207 Koegel R. 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S., 2001, EARLY CHILDHOOD INCL, P337 STRAIN PS, 1983, ANAL INTERVEN DEVEL, V3, P23, DOI 10.1016/0270-4684(83)90024-1 Strain P. S., 2008, PRESCHOOL ED PROGRAM, P249 Strain PS, 2000, TOP EARLY CHILD SPEC, V20, P116, DOI 10.1177/027112140002000207 Strain PS, 2011, TOP EARLY CHILD SPEC, V31, P133, DOI 10.1177/0271121411408740 Thomas KC, 2007, J AUTISM DEV DISORD, V37, P1902, DOI 10.1007/s10803-006-0323-7 Warren Z, 2011, PEDIATRICS, V127, pE1303, DOI 10.1542/peds.2011-0426 Wolery M, 2002, J AUTISM DEV DISORD, V32, P463, DOI 10.1023/A:1020598023809 Wolery M., 2005, EXCEPTIONALITY, V13, P11, DOI 10.1207/s15327035ex1301_3 Wolery M., 2005, DEC RECOMMENDED PRAC, P71 NR 32 TC 5 Z9 5 PU COUNCIL EXCEPTIONAL CHILDREN PI ARLINGTON PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA SN 1053-8151 J9 J EARLY INTERVENTION JI J. Early Interv. PD DEC PY 2011 VL 33 IS 4 BP 321 EP 332 DI 10.1177/1053815111429970 PG 12 WC Education, Special; Psychology, Educational; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 873BL UT WOS:000298855600008 ER PT J AU Wolery, M Hemmeter, ML AF Wolery, Mark Hemmeter, Mary Louise TI Classroom Instruction: Background, Assumptions, and Challenges SO JOURNAL OF EARLY INTERVENTION LA English DT Article DE classroom; instruction; teaching; learning ID CHILDHOOD SPECIAL-EDUCATION; DEVELOPMENTALLY APPROPRIATE PRACTICES; SINGLE-SUBJECT RESEARCH; CONSTANT-TIME-DELAY; OF-THE-LITERATURE; YOUNG-CHILDREN; PRETEND PLAY; JOINT ATTENTION; DISABILITIES; AUTISM AB In this article, the authors focus on issues of instruction in classrooms. Initially, a brief definitional and historic section is presented. 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Ghaziuddin, Neera TI Catatonia Among Adolescents With Down Syndrome A Review and 2 Case Reports SO JOURNAL OF ECT LA English DT Review DE catatonia; down syndrome; adolescent ID SPECTRUM DISORDERS; PSYCHOSIS; CHILDREN AB Catatonia is a relatively common condition with an estimated prevalence of 0.6% to 17% among youth with psychiatric disorders. Certain patient groups, such as those with autism, may be at a particularly high risk for catatonia. Most of the youth with catatonia are males with a diagnosis of a bipolar disorder. We describe here 2 adolescent females, both with Down syndrome, who presented with catatonia not accompanied by significant affective or psychotic symptoms or with a general medical condition. Both patients had functioned well until the onset of catatonic symptoms. In the current classification system used in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, catatonia is described in association with schizophrenia, as a specifier of affective disorders or secondary to general medical conditions. The cases described here highlight the problem with this classification system when patients fail to meet any of the 3 diagnostic categories under which catatonia is currently described. C1 [Jap, Shannon N.; Ghaziuddin, Neera] Univ Michigan, Div Child & Adolescent Psychiat, Ann Arbor, MI 48109 USA. RP Ghaziuddin, N (reprint author), Univ Michigan, Div Child & Adolescent Psychiat, Rachel Upjohn Bldg,4250 Plymouth Rd, Ann Arbor, MI 48109 USA. 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TI The Effect of a Music Therapy Social Skills Training Program on Improving Social Competence in Children and Adolescents with Social Skills Deficits SO JOURNAL OF MUSIC THERAPY LA English DT Article ID HIGH-INCIDENCE DISABILITIES; AUTISM SPECTRUM DISORDERS; BEHAVIORAL-DISORDERS; PSYCHIATRIC EPIDEMIOLOGY; PRESCHOOL-CHILDREN; TEACHER REPORT; MOOD STATES; METAANALYSIS; STUDENTS; PARENT AB Three separate studies were conducted in school, residential and after-school care settings to test the effectiveness of a music therapy-based social skills intervention program on improving social competence in children and adolescents. A total of 45 children (n = 12; n = 13; n = 20) aged 6-17 years with social skills deficits participated in a group-based five session intervention program. The same curriculum, adapted to be age appropriate, was used at all 3 sites. Specific deficits within the social skills areas of peer relations and seff-management skills were targeted. 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PD WIN PY 2011 VL 48 IS 4 BP 440 EP 462 PG 23 WC Music; Rehabilitation SC Music; Rehabilitation GA 872RN UT WOS:000298827100002 PM 22506299 ER PT J AU Lim, HA Draper, E AF Lim, Hayoung A. Draper, Ellary TI The Effects of Music Therapy Incorporated with Applied Behavior Analysis Verbal Behavior Approach for Children with Autism Spectrum Disorders SO JOURNAL OF MUSIC THERAPY LA English DT Article ID INTERVENTION; SPEECH AB This study compared a common form of Applied Behavior Analysis Verbal Behavior (ABA VB) approach and music incorporated with ABA VB method as part of developmental speech-language training in the speech production of children with Autism Spectrum Disorders (ASD). This study explored how the perception of musical patterns incorporated in ABA VB operants impacted the production of speech in children with ASD. Participants were 22 children with ASD, age range 3 to 5 years, who were verbal or pre verbal with presence of immediate echolalia. They were randomly assigned a set of target words for each of the 3 training conditions: (a) music incorporated ABA VB, (b) speech (ABA VB) and (c) no-training. Results showed both music and speech trainings were effective for production of the four ABA verbal operants; however, the difference between music and speech training was not statistically different. Results also indicated that music incorporated ABA VB training was most effective in echoic production, and speech training was most effective in tact production. Music can be incorporated into the ABA VB training method, and musical stimuli can be used as successfully as ABA VB speech training to enhance the functional verbal production in children with ASD. C1 [Lim, Hayoung A.; Draper, Ellary] Sam Houston State Univ, Huntsville, TX 77340 USA. RP Lim, HA (reprint author), Sam Houston State Univ, Huntsville, TX 77340 USA. CR Adamek M. S., 2008, INTRO MUSIC THERAPY, V3rd, P117 Barbera M. 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Eliades, Aris Beoglos Libertin, Cheryl Christ Shelestak, Debra TI Use of Picture Communication Aids to Assess Pain Location in Pediatric Postoperative Patients SO JOURNAL OF PERIANESTHESIA NURSING LA English DT Article DE picture communication aids; pediatric; postoperative pain; parent satisfaction; post anesthesia care unit; research ID AUTISM; SYSTEM AB Children undergoing surgical procedures may have difficulty communicating. Augmentative and alternative communication (AAC) picture communication may provide a standard communication strategy for postoperative children and facilitate nurse-patient communication. The study purposes were to (1) determine if inconsistency exists between nurse assessments of pain location versus identification of pain location using AAC picture communication aids and (2) determine parent satisfaction with use of AAC picture communication aids. A convenience sample of patients aged 3 to 9 years were recruited in a Midwestern freestanding pediatric hospital's postanesthesia care unit (PACU). The patient's pain location was assessed using an AAC picture communication aid and compared with the PACU nurses' pain assessment. Nurses did not consistently document location of pain, and, when documented, the surgical site was inaccurately identified as the location of pain. Parent satisfaction was measured through completion of a 10-item satisfaction survey. Respondents were satisfied with the use of AAC picture communication aids. C1 [Mesko, Phyllis J.] Akron Childrens Hosp, Postanesthesia Care Unit, Surg Serv, Akron, OH 44308 USA. [Eliades, Aris Beoglos] Akron Childrens Hosp, Rebecca D Considine Res Inst, Akron, OH 44308 USA. [Libertin, Cheryl Christ] Akron Childrens Hosp, Ctr Excellence Nursing Educ, Akron, OH 44308 USA. [Shelestak, Debra] Kent State Univ, Dept Nursing, N Canton, OH USA. 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PeriAnesthesia Nurs. PD DEC PY 2011 VL 26 IS 6 BP 395 EP 404 DI 10.1016/j.jopan.2011.09.006 PG 10 WC Nursing SC Nursing GA 864WM UT WOS:000298271200008 PM 22099132 ER PT J AU Carter, AS Ben-Sasson, A Briggs-Gowan, MJ AF Carter, Alice S. Ben-Sasson, Ayelet Briggs-Gowan, Margaret J. TI Sensory Over-Responsivity, Psychopathology, and Family Impairment in School-Aged Children SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE sensory over-responsivity; psychopathology; internalizing; externalizing; family impairment ID AUTISM SPECTRUM DISORDERS; PROCESSING DISORDERS; BEHAVIORAL-PROBLEMS; PREVALENCE; VALIDITY; IV; ADOLESCENTS; RELIABILITY; PREDICTORS; MODULATION AB Objective: To establish the diagnostic validity of sensory overresponsivity (SOR), there is a need to document rates of SOR and the co-occurrence of SOR with other psychiatric disorders. Although this was not a diagnostic study of SOR, this study was designed to investigate rates of elevated SOR symptoms and associations between elevated SOR symptoms, psychiatric disorder status, and family impairment. Method: From a larger birth cohort followed from infancy to school age, 338 children aged 7 to 10 years (51% boys, 49% girls) and their parents participated in an intensive assessment. Parents were interviewed with the Diagnostic Interview Schedule for Children (DISC) and completed the SensOR inventory and the Family Life Impairment Scale. Results: Approximately one-fifth (21.2%) of children had elevated SOR symptoms. One-fourth (24.3%) of those with an elevated SOR score met criteria for a DSM-IV diagnosis, and 25.4% of children with a DSM-IV diagnosis had an elevated SOR score. Parents of children with elevated SOR alone reported a similar number of restrictions in family life as parents of those with an internalizing and/or externalizing diagnosis. SOR predicted concurrent family impairment above and beyond DSM diagnostic status and socio-demo-graphic risk. Conclusions: Elevated SOR occurs in the absence of other psychiatric conditions and is associated with impairment in family life. Services for children with comorbid elevated SOR and an externalizing disorder are needed to address the extremely high level of family impairment reported. J. Am. Acad. Child Adolesc. Psychiatry, 2011;50(12): 1210-1219. C1 [Carter, Alice S.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA. [Ben-Sasson, Ayelet] Univ Haifa, Ctr Study Child Dev, IL-31999 Haifa, Israel. [Briggs-Gowan, Margaret J.] Univ Connecticut, Ctr Hlth, Storrs, CT 06269 USA. RP Carter, AS (reprint author), Univ Massachusetts, Dept Psychol, 100 Morrissey Blvd, Boston, MA 02125 USA. 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Am. Acad. Child Adolesc. Psychiatr. PD DEC PY 2011 VL 50 IS 12 BP 1210 EP 1219 DI 10.1016/j.jaac.2011.09.010 PG 10 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 857KA UT WOS:000297716200005 PM 22115142 ER PT J AU Endedijk, H Denessen, E Hendriks, AW AF Endedijk, Hinke Denessen, Eddie Hendriks, Angelique W. TI Relationships between executive functioning and homework difficulties in students with and without autism spectrum disorder: An analysis of student- and parent-reports SO LEARNING AND INDIVIDUAL DIFFERENCES LA English DT Article DE Homework; Executive functions; Autism ID STRUCTURE COEFFICIENTS; SCHOOL-STUDENTS; CHILDREN; DISABILITIES; ACHIEVEMENT; ADOLESCENTS; DEFICITS; MIDDLE; SELF AB Despite the fact that homework forms an important cornerstone of student development, many students fail to capitalize on the long-term benefits of doing homework. Several executive skills, including cognitive flexibility, monitoring and planning are suggested as prerequisites for the completion of homework. It follows that homework difficulties may relate to such executive functions. A group of particular interest in this respect is students with Autism Spectrum Disorder (ASD), as they are known to suffer from executive dysfunction. The present study examines the extent to which differences in homework difficulties of seventh and eighth grade students with (N = 100) and without ASD (N = 86) may relate to their level of executive functioning. Homework difficulties were examined with student and parent versions of the Homework Difficulties Questionnaire (HDQ) and executive functioning was examined with the Behaviour Rating Inventory of Executive Functioning (BRIEF). In contrast to students with ASD themselves, parents of students with ASD perceived their children to suffer from more homework problems than students without ASD. For both groups, the level of executive functioning was related to the degree of homework difficulty experienced. (C) 2011 Elsevier Inc. All rights reserved. C1 [Endedijk, Hinke; Denessen, Eddie; Hendriks, Angelique W.] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands. RP Endedijk, H (reprint author), POB 9104, NL-6500 HE Nijmegen, Netherlands. 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PD DEC PY 2011 VL 21 IS 6 BP 765 EP 770 DI 10.1016/j.lindif.2011.07.016 PG 6 WC Psychology, Educational SC Psychology GA 859LA UT WOS:000297876700019 ER PT J AU Rose, NR AF Rose, Noel R. TI Conjugate vaccines and autism SO MEDICAL HYPOTHESES LA English DT Editorial Material ID AUTOANTIBODIES; AUTOIMMUNITY C1 Johns Hopkins Univ, Sch Med, Dept Pathol, Bethesda, MD 20205 USA. RP Rose, NR (reprint author), Johns Hopkins Univ, Sch Med, Dept Pathol, Ross 659,720 Rutland Ave, Bethesda, MD 20205 USA. 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TI Hypothesis: Conjugate vaccines may predispose children to autism spectrum disorders SO MEDICAL HYPOTHESES LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; B CAPSULAR POLYSACCHARIDE; PREVALENCE TRENDS; ANTIBODIES; EPIDEMIOLOGY; SEQUENCES; ANTIGENS; BRAIN AB The first conjugate vaccine was approved for use in the US in 1988 to protect infants and young children against the capsular bacteria Haemophilus influenzae type b (Hib). Since its introduction in the US, this vaccine has been approved in most developed countries, including Denmark and Israel where the vaccine was added to their national vaccine programs in 1993 and 1994, respectively. There have been marked increases in the reported prevalence of autism spectrum disorders (ASDs) among children in the US beginning with birth cohorts in the late 1980s and in Denmark and Israel starting approximately 4-5 years later. Although these increases may partly reflect ascertainment biases, an exogenous trigger could explain a significant portion of the reported increases in ASDs. It is hypothesized here that the introduction of the Hib conjugate vaccine in the US in 1988 and its subsequent introduction in Denmark and Israel could explain a substantial portion of the initial increases in ASDs in those countries. The continuation of the trend toward increased rates of ASDs could be further explained by increased usage of the vaccine, a change in 1990 in the recommended age of vaccination in the US from 15 to 2 months, increased immunogenicity of the vaccine through changes in its carrier protein, and the subsequent introduction of the conjugate vaccine for Streptococcus pneumoniae. Although conjugate vaccines have been highly effective in protecting infants and young children from the significant morbidity and mortality caused by Hib and S. pneumoniae, the potential effects of conjugate vaccines on neural development merit close examination. Conjugate vaccines fundamentally change the manner in which the immune systems of infants and young children function by deviating their immune responses to the targeted carbohydrate antigens from a state of hypo-responsiveness to a robust B2 B cell mediated response. This period of hypo-responsiveness to carbohydrate antigens coincides with the intense myelination process in infants and young children, and conjugate vaccines may have disrupted evolutionary forces that favored early brain development over the need to protect infants and young children from capsular bacteria. (C) 2011 Elsevier Ltd. All rights reserved. RP Richmand, BJ (reprint author), POB 581, Chappaqua, NY 10514 USA. 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Hypotheses PD DEC PY 2011 VL 77 IS 6 BP 940 EP 947 DI 10.1016/j.mehy.2011.08.019 PG 8 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 853BG UT WOS:000297400600002 PM 21993250 ER PT J AU Dow, CT AF Dow, Coad Thomas TI Mycobacterium paratuberculosis and autism: Is this a trigger? SO MEDICAL HYPOTHESES LA English DT Article ID AVIUM SUBSP PARATUBERCULOSIS; HEAT-SHOCK-PROTEIN; SYSTEMIC-LUPUS-ERYTHEMATOSUS; LYMPHOCYTE CYTOKINE PROFILES; WATER DISTRIBUTION-SYSTEMS; MYELIN BASIC-PROTEIN; VITAMIN-D DEFICIENCY; T-CELL-CLONES; CROHNS-DISEASE; SPECTRUM DISORDERS AB Autism is a heterogeneous group of life-long neurologic problems that begin in childhood. Success in efforts to understand and treat autism has been mostly elusive. The role of autoimmunity in autism has gained recognition both for associated systemic autoimmune disease and the presence of brain auto-antibodies in autistic children and their family members. There is an acknowledged genetic susceptibility to autism - most notably allotypes of complement C4. C4 defects are associated with several autoimmune diseases and also confer susceptibility to mycobacterial infections. Mycobacterium avium ss. paratuberculosis (MAP) causes an enteric inflammatory disease in ruminant animals (Johne's disease) and is the putative cause of the very similar Crohn's disease in humans. Humans are widely exposed to MAP in food and water. MAP has been also linked to ulcerative colitis, irritable bowel syndrome, sarcoidosis, Blau syndrome, autoimmune (Type 1) diabetes, Hashimoto's thyroiditis and multiple sclerosis. Environmental agents are thought to trigger autism in the genetically at risk. Molecular mimicry is the proposed mechanism by which MAP is thought to trigger autoantibodies. Autoantibodies to brain myelin basic protein (MBP) is a common feature of autism. 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Hypotheses PD DEC PY 2011 VL 77 IS 6 BP 977 EP 981 DI 10.1016/j.mehy.2011.08.024 PG 5 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 853BG UT WOS:000297400600011 PM 21903338 ER PT J AU Good, P AF Good, Peter TI Do salt cravings in children with autistic disorders reveal low blood sodium depleting brain taurine and glutamine? SO MEDICAL HYPOTHESES LA English DT Article ID H-1-MAGNETIC RESONANCE SPECTROSCOPY; ENTERO-COLONIC ENCEPHALOPATHY; CENTRAL-NERVOUS-SYSTEM; AMINO-ACIDS; SPECTRUM DISORDERS; SEX-DIFFERENCES; IN-VIVO; VASOPRESSIN; HYPONATREMIA; AMMONIA AB Because boys are four times more likely than girls to develop autism, the role of male hormones (androgens) has received considerable scrutiny. Some researchers implicate arginine vasopressin, an androgen-dependent hormone from the pituitary gland that elicits male behavior. Elevated vasopressin is also the most common cause of low blood sodium (hyponatremia) - most serious in the brains of children. Hyponatremia causes astrocytes to swell, then release the amino acids taurine and glutamine and their water to compensate. Taurine - the brain osmolyte/inhibitory neurotransmitter that suppresses vasopressin was the amino acid most wasted or depleted in urine of autistic children. Glutamine is a critical metabolic fuel in brain neurons, astrocytes, endothelial cells, and the intestines, especially during hypoglycemia. Because glutamine is not thought to cross the blood brain barrier significantly, the implications of low blood glutamine in these children are not recognized. Yet children with high brain glutamine from urea cycle disorders are rarely diagnosed with autistic disorders. Other common events in autistic children that release vasopressin are gastrointestinal inflammation, hypoglycemia, and stress. Signs of hyponatremia in these children are salt cravings reported online and anecdotally, deep yellow urine revealing concentration, and relief of autistic behavior by fluid/salt diets. Several interventions offer promise: (a) taurine to suppress vasopressin and replenish astrocytes; (b) glutamine as fuel for intestines and brain; (c) arginine to spare glutamine, detoxify ammonia, and increase brain blood flow; and (d) oral rehydration salts to compensate dilutional hyponatremia. This hypothesis appears eminently testable: Does your child crave salt? Is his urine deep yellow? (C) 2011 Elsevier Ltd. All rights reserved. C1 Autism Studies, Lapine, OR 97739 USA. RP Good, P (reprint author), Autism Studies, POB 1683, Lapine, OR 97739 USA. 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Hypotheses PD DEC PY 2011 VL 77 IS 6 BP 1015 EP 1021 DI 10.1016/j.mehy.2011.08.038 PG 7 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 853BG UT WOS:000297400600023 PM 21925797 ER PT J AU Al Abdulmohsen, T Kruger, THC AF Al Abdulmohsen, Taleb Kruger, Tillmann H. C. TI The contribution of muscular and auditory pathologies to the symptomatology of autism SO MEDICAL HYPOTHESES LA English DT Article ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; CHILDREN; FEEDBACK; DYSFUNCTION; MECHANISMS; MOVEMENTS; SUPERIOR; TENSION AB Most research concerning the pathology of autism is focused on the search for central abnormalities that account for the production of symptoms. We, however, instead of looking at muscular and auditory features as merely associated manifestations, propose that they are somatic contributors by which some of the main clinical features of autism might be explained. Evidence suggests that muscles affect emotional experience. We think certain muscular dysfunctioning can impair communication and social interaction, and create stereotypic behavior, giving rise to the diagnostic features of autism. Furthermore, because speech is synchronized with facial movements and voice is controlled mainly through auditory feedback, a distortion of auditory feedback could disrupt voice, which in turn might cause parallel abnormal facial muscle functioning. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Al Abdulmohsen, Taleb; Kruger, Tillmann H. C.] Hannover Med Sch, Dept Psychiat Social Psychiat & Psychotherapy, D-30625 Hannover, Germany. RP Al Abdulmohsen, T (reprint author), Hannover Med Sch, Dept Psychiat Social Psychiat & Psychotherapy, Carl Neuberg Str 1, D-30625 Hannover, Germany. 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Hypotheses PD DEC PY 2011 VL 77 IS 6 BP 1038 EP 1047 DI 10.1016/j.mehy.2011.08.044 PG 10 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA 853BG UT WOS:000297400600028 PM 21925796 ER PT J AU Wang, Q Brandon, NJ AF Wang, Qi Brandon, Nicholas J. TI Regulation of the cytoskeleton by Disrupted-in-Schizophrenia 1 (DISC1) SO MOLECULAR AND CELLULAR NEUROSCIENCE LA English DT Review DE Cytoskeleton; DISC1; Psychiatry; Genetics; Schizophrenia; Depression; Autism ID ANTERIOR CINGULATE CORTEX; DISRUPTED-IN-SCHIZOPHRENIA-1 DISC1; CORTICAL DEVELOPMENT; PSYCHIATRIC DISEASE; STRUCTURAL VARIANTS; SPECTRUM DISORDER; GENOMIC STRUCTURE; DENDRITIC SPINES; NEURONAL CILIA; ADULT BRAIN AB Disrupted in schizophrenia 1 (DISC1) is one of the strongest supported risk genes for psychiatric disorders, such as schizophrenia, major depression, bipolar disorder, and autism. Intensive study over the past 11 years, since the gene was cloned, has tried to understand at the molecular and cellular levels how mutations in DISC1 contribute to these diseases. The DISC1 protein has been reported to be localized to cytoskeleton-rich regions in cells, including the centrosome, base of primary cilia, axon and dendritic shafts and spines. Here we review the functions of DISC1 which are relevant for cytoskeletal regulation and its crucial roles during normal brain development and in adult brain function. This article is part of a Special Issue entitled Neuronal Function. (C) 2011 Elsevier Inc. All rights reserved. C1 [Wang, Qi; Brandon, Nicholas J.] Pfizer Neurosci Res Unit, Groton, CT 06340 USA. RP Wang, Q (reprint author), Pfizer Neurosci Res Unit, Eastern Point Rd, Groton, CT 06340 USA. 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Cell. Neurosci. PD DEC PY 2011 VL 48 IS 4 SI SI BP 359 EP 364 DI 10.1016/j.mcn.2011.06.004 PG 6 WC Neurosciences SC Neurosciences & Neurology GA 847VX UT WOS:000297001700011 PM 21757008 ER PT J AU Granata, T Valentini, LG AF Granata, Tiziana Valentini, Laura Grazia TI Epilepsy in type 1 Chiari malformation SO NEUROLOGICAL SCIENCES LA English DT Article DE Seizure; Cerebellum; Posterior fossa; Children ID I MALFORMATION; SEIZURES; ASSOCIATION AB In patients with Chiari malformation type 1 (CMI), epileptic seizures are occasionally reported both in symptomatic patients candidate to surgery and in patients without symptoms of tonsillar displacement in whom CM1 is often an incidental finding in the diagnostic work up for idiopathic epilepsies. In both groups of patients, the course of epilepsy is almost invariably favorable, with a few seizures easily controlled by treatment. In a subset of CM1 patients, epilepsy occurs in the context of neurodevelopmental disorders that also include mental retardation, autism and somatic dysmorphisms. Epileptic seizures must be accurately differentiated by potentially harmful paroxysmal events due to compression of the medulla, particularly by the cerebellar fits characterized by drop attacks, abnormal extensor posturing and apnea. C1 [Granata, Tiziana] IRCCS Fdn Neurol Inst C Besta, Dept Paediat Neurosci, I-20133 Milan, Italy. [Valentini, Laura Grazia] IRCCS Fdn Neurol Inst C Besta, Dept Neurosurg, Milan, Italy. RP Granata, T (reprint author), IRCCS Fdn Neurol Inst C Besta, Dept Paediat Neurosci, Via Celoria 11, I-20133 Milan, Italy. 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Sci. PD DEC PY 2011 VL 32 SU 3 BP 303 EP 306 DI 10.1007/s10072-011-0697-y PG 4 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 870CU UT WOS:000298647500011 ER PT J AU Riva, D Usilla, A Saletti, V Esposito, S Bulgheroni, S AF Riva, Daria Usilla, Arianna Saletti, Veronica Esposito, Sivia Bulgheroni, Sara TI Can Chiari malformation negatively affect higher mental functioning in developmental age? SO NEUROLOGICAL SCIENCES LA English DT Article DE Chiari malformation; Cognition; Development ID COGNITIVE-AFFECTIVE SYNDROME; LONG-TERM SEQUELAE; TUMOR RESECTION; CEREBELLUM; CHILDREN AB Numerous studies on adults have confirmed that the cerebellum has a role in processing higher brain functions, and evidence of this role has emerged more recently in developmental age as well. Various types of congenital lesion are associated with neuropsychological impairments and behavioral changes that can sometimes even give rise to a picture of autism. Acquired cerebellar lesions (especially tumors and stroke) in children of normal intelligence have enabled different neuropsychological profiles to be identified, depending on the cerebellar site involved. In Chiari malformation, the cerebellar structures are squeezed and crowded inside the posterior fossa and along the time this could generate various kinds of cognitive and behavioral disorders. Currently available data remain inconclusive, however, and prospective longitudinal studies on sizable series will be needed to ascertain whether and to what degree Chiari malformations may negatively affect mental functioning in developmental age. C1 [Riva, Daria; Usilla, Arianna; Saletti, Veronica; Esposito, Sivia; Bulgheroni, Sara] Fdn IRCCS Ist Neurol C Besta, UO Neurol Sviluppo, I-20133 Milan, Italy. RP Riva, D (reprint author), Fdn IRCCS Ist Neurol C Besta, UO Neurol Sviluppo, Via Celoria 11, I-20133 Milan, Italy. 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PD DEC PY 2011 VL 32 SU 3 BP 307 EP 309 DI 10.1007/s10072-011-0779-x PG 3 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 870CU UT WOS:000298647500012 ER PT J AU Palermo, R Rivolta, D Wilson, CE Jeffery, L AF Palermo, Romina Rivolta, Davide Wilson, C. Ellie Jeffery, Linda TI Adaptive face space coding in congenital prosopagnosia: Typical figural aftereffects but abnormal identity aftereffects SO NEUROPSYCHOLOGIA LA English DT Article DE Face recognition; Prosopagnosia; Identity aftereffect; Figural aftereffect; Developmental; Adaptive face coding; Norm-based coding ID DEVELOPMENTAL PROSOPAGNOSIA; FACIAL IDENTITY; ACQUIRED PROSOPAGNOSIA; INFEROTEMPORAL CORTEX; PERCEPTUAL ADAPTATION; VISUAL-ADAPTATION; MEMORY TEST; RECOGNITION; AUTISM; ATTRACTIVENESS AB People with congenital prosopagnosia (CP) report difficulty recognising faces in everyday life and perform poorly on face recognition tests. Here, we investigate whether impaired adaptive face space coding might contribute to poor face recognition in CP. To pinpoint how adaptation may affect face processing, a group of CPs and matched controls completed two complementary face adaptation tasks: the figural aftereffect, which reflects adaptation to general distortions of shape, and the identity aftereffect, which directly taps the mechanisms involved in the discrimination of different face identities. CPs displayed a typical figural aftereffect, consistent with evidence that they are able to process some shape-based information from faces, e.g., cues to discriminate sex. CPs also demonstrated a significant identity aftereffect. However, unlike controls, CPs impression of the identity of the neutral average face was not significantly shifted by adaptation, suggesting that adaptive coding of identity is abnormal in CP. In sum, CPs show reduced aftereffects but only when the task directly taps the use of face norms used to code individual identity. This finding of a reduced face identity aftereffect in individuals with severe face recognition problems is consistent with suggestions that adaptive coding may have a functional role in face recognition. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Palermo, Romina] Australian Natl Univ, Dept Psychol, Canberra, ACT 0200, Australia. [Palermo, Romina; Rivolta, Davide; Wilson, C. Ellie] Macquarie Univ, Macquarie Ctr Cognit Sci MACCS, Sydney, NSW 2109, Australia. [Jeffery, Linda] Univ Western Australia, Sch Psychol, Crawley, WA, Australia. RP Palermo, R (reprint author), Australian Natl Univ, Dept Psychol, GPO Box 4, Canberra, ACT 0200, Australia. EM Romina.Palermo@anu.edu.au FU Macquarie University; Australian National University; Australian Research Council [DP110100850, DP0770923]; ARC Centre of Excellence [CE110001021] FX This research was supported by funding from Macquarie University and the Australian National University, and by the Australian Research Council's Discovery Projects funding schemes (project number: DP110100850 to RP, DP0770923 to LJ and ARC Centre of Excellence Grant CE110001021). 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TI Perinatal and Neonatal Risk Factors for Autism: A Comprehensive Meta-Analysis EDITORIAL COMMENT SO OBSTETRICAL & GYNECOLOGICAL SURVEY LA English DT Editorial Material AB Despite extensive epidemiologic research in the past several decades, the cause of autism is unknown. It is believed that the underlying etiology is polygenic, and that an interaction of environmental and genetic factors underlies the risk. Although several studies have reported that certain obstetrical and neonatal complications may be associated with increased risk of autism, the conclusions of these studies vary, in part, because of differences in methodology, diagnostic criteria, and comparison groups. The aim of this study was to provide the first systematic review and meta-analysis of the relationship between perinatal and neonatal factors and the risk of autism. A search of PubMed, Embase, and PsycInfo databases was conducted for epidemiologic articles published through March 2007 that examined the association between perinatal and neonatal factors and autism. A total of 40 studies met criteria for inclusion in the meta-analysis. A random-effects model was used to calculate a summary effect estimate for each exposure. For each of the several risk factors identified with heterogeneity in effect estimates across studies, meta-regression was used to identify measured methodological factors that could explain between-study variability. Over 60 perinatal and neonatal factors were examined in the 40 selected epidemiologic studies. There was an association between many of these factors and risk of autism. The strongest evidence was found for the following factors: abnormal fetal presentation, umbilical-cord complications, fetal distress, birth injury or trauma, multiple birth, maternal hemorrhage, summer birth, low birth weight, small for gestational age, congenital malformation, low 5-minute Apgar score, feeding difficulties, meconium aspiration, neonatal anemia, ABO or Rh incompatibility, and hyperbilirubinemia. Factors with the strongest evidence against a role in autism risk included anesthesia during delivery, assisted vaginal delivery, postterm birth, high birth weight, and head circumference. These findings provide insufficient evidence implicating any one perinatal or neonatal factor in autism etiology, but suggest combined risk from exposure to multiple perinatal and neonatal complications. Variability in methodology may account for the observed heterogeneity of risk factor effects across studies. C1 [Gardener, Hannah] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA. Brown Univ, Dept Community Hlth, Providence, RI 02912 USA. RP Gardener, H (reprint author), Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. RI Buka, Stephen/H-7335-2014 OI Buka, Stephen/0000-0002-8578-9308 CR 2007, ANNU REV PUBLIC HLTH, V28, P235 2011, HUM GENET, V130, P123 2009, BR J PSYCHIAT, V195, P7 2007, PEDIAT, V119, pE1040 2002, J AM ACAD CHILD ADOL, V41, P572 NR 5 TC 1 Z9 1 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 0029-7828 J9 OBSTET GYNECOL SURV JI Obstet. Gynecol. Surv. PD DEC PY 2011 VL 66 IS 12 BP 749 EP 751 PG 3 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA 870IN UT WOS:000298662700008 ER PT J AU Adams, D Cheng, F Jou, H Aung, S Yasui, Y Vohra, S AF Adams, Denise Cheng, Florence Jou, Hsing Aung, Steven Yasui, Yutaka Vohra, Sunita TI The Safety of Pediatric Acupuncture: A Systematic Review SO PEDIATRICS LA English DT Review DE acupuncture; pediatric; safety; systematic review ID AUTISM SPECTRUM DISORDER; CHEMOTHERAPY-INDUCED NAUSEA; RANDOMIZED CONTROLLED-TRIAL; ADVERSE EVENTS; ALTERNATIVE MEDICINE; MULTICENTER CROSSOVER; TONGUE ACUPUNCTURE; SHAM ACUPUNCTURE; CEREBRAL-PALSY; CHILDREN AB CONTEXT: Acupuncture is increasingly used in children; however, the safety of pediatric acupuncture has yet to be reported from systematic review. OBJECTIVE: To identify adverse events (AEs) associated with needle acupuncture in children. METHODS: Eighteen databases were searched, from inception to September 2010, irrespective of language. Inclusion criteria were that the study (1) was original peer-reviewed research, (2) included children from birth to 17 years, inclusively, (3) involved needle acupuncture, and (4) included assessment of AEs in a child. Safety data were extracted from all included studies. RESULTS: Of 9537 references identified, 450 were assessed for inclusion. Twenty-eight reports were included, and searches of reference lists identified 9 additional reports (total: 37). A total of 279 AEs were identified, 146 from randomized controlled trials, 95 from cohort studies, and 38 from case reports/series. Of the AEs, 25 were serious (12 cases of thumb deformity, 5 infections, and 1 case each of cardiac rupture, pneumothorax, nerve impairment, subarachnoid hemorrhage, intestinal obstruction, hemoptysis, reversible coma, and overnight hospitalization), 1 was moderate (infection), and 253 were mild. The mild AEs included pain, bruising, bleeding, and worsening of symptoms. We calculated a mild AE incidence per patient of 168 in 1422 patients (11.8% [95% confidence interval: 10.1-13.5]). CONCLUSIONS: Of the AEs associated with pediatric needle acupuncture, a majority of them were mild in severity. Many of the serious AEs might have been caused by substandard practice. Our results support those from adult studies, which have found that acupuncture is safe when performed by appropriately trained practitioners. Pediatrics 2011;128:e1575-e1587 C1 [Adams, Denise; Cheng, Florence; Jou, Hsing; Vohra, Sunita] Univ Alberta, Dept Pediat, CARE Program, Edmonton, AB T5K 0L4, Canada. [Aung, Steven] Univ Alberta, Dept Med, Edmonton, AB T5K 0L4, Canada. [Vohra, Sunita] Univ Alberta, Dept Publ Hlth Sci, Edmonton, AB T5K 0L4, Canada. RP Vohra, S (reprint author), Univ Alberta, Dept Pediat, CARE Program, 8B19 11111 Jasper Ave, Edmonton, AB T5K 0L4, Canada. EM svohra@ualberta.ca RI Yasui, Yutaka/E-2564-2015 OI Yasui, Yutaka/0000-0002-7717-8638 FU Alberta Innovates-Health Solutions; Canadian Institutes of Health Research FX This work was supported by Alberta Innovates-Health Solutions (formerly AHFMR) and the Canadian Institutes of Health Research. Dr Vohra receives salary support from Alberta Innovates-Health Solutions as a health scholar. 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Libero, Lauren E. Moore, Marie S. TI Disrupted cortical connectivity theory as an explanatory model for autism spectrum disorders SO PHYSICS OF LIFE REVIEWS LA English DT Review DE Functional connectivity; Autism; fMRI; Theory-of-Mind; Cognitive flexibility; Processing speed; Triad of impairments ID HIGH-FUNCTIONING AUTISM; MIRROR NEURON SYSTEM; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDER; SUPERIOR TEMPORAL SULCUS; EMBEDDED FIGURES TASK; CARD SORTING TEST; ASPERGER-SYNDROME; EXECUTIVE FUNCTION; WHITE-MATTER AB Recent findings of neurological functioning in autism spectrum disorder (ASD) point to altered brain connectivity as a feature of its pathophysiology. The cortical underconnectivity theory of ASD (Just et al., 2004) provides an integrated framew for addressing these new findings. This theory suggests that weaker functional connections among brain areas in those with A hamper their ability to accomplish complex cognitive and social tasks successfully. We will discuss this theory, but will modify term underconnectivity to 'disrupted cortical connectivity' to capture patterns of both under- and over-connectivity in the brain this paper, we will review the existing literature on ASD to marshal supporting evidence for hypotheses formulated on the disrupted cortical connectivity theory. These hypotheses are: I) underconnectivity in ASD is manifested mainly in long-distance cortica well as subcortical connections rather than in short-distance cortical connections; 2) underconnectivity in ASD is manifested o in complex cognitive and social functions and not in low-level sensory and perceptual tasks; 3) functional underconnectivity ASD may be the result of underlying anatomical abnormalities, such as problems in the integrity of white matter; 4) the A brain adapts to underconnectivity through compensatory strategies such as overconnectivity mainly in frontal and in posterior bi areas. This may be manifested as deficits in tasks that require frontal parietal integration. While overconnectivity can be tested examining the cortical minicolumn organization, long-distance underconnectivity can be tested by cognitively demanding tas and 5) functional underconnectivity in brain areas in ASD will be seen not only during complex tasks but also during task-I resting states. We will also discuss some empirical predictions that can be tested in future studies, such as: I) how disrupted connectivity relates to cognitive impairments in skills such as Theory-of-Mind, cognitive flexibility, and information processing and 2) how connection abnormalities relate to, and may determine, behavioral symptoms hallmarked by the triad of Impairment. in ASD. Furthermore, we will relate the disrupted cortical connectivity model to existing cognitive and neural models of ASD. Published by Elsevier B. V. C1 [Kana, Rajesh K.; Libero, Lauren E.] Univ Alabama, Dept Psychol, Birmingham, AL 35294 USA. [Moore, Marie S.] Univ Alabama, Dept Psychol, Tuscaloosa, AL 35487 USA. RP Kana, RK (reprint author), Univ Alabama, Dept Psychol, CIRC 235G,1719 6th Ave S, Birmingham, AL 35294 USA. EM rkana@uab.edu FU UAB Psychology Department; McNulty-Civitan Scientist Award FX This research was supported by the UAB Psychology Department faculty start-up funds and the McNulty-Civitan Scientist Award to R.K. The authors would like to thank Dr. Rosalyn Weller for her valuable comments on an earlier version of this manuscript. The authors would also like to thank Ms. Miranda Morris for help in formatting and proof-reading this manuscript. 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Life Rev. PD DEC PY 2011 VL 8 IS 4 BP 410 EP 437 DI 10.1016/j.plrev.2011.10.001 PG 28 WC Biology; Biophysics SC Life Sciences & Biomedicine - Other Topics; Biophysics GA 867MB UT WOS:000298457400019 PM 22018722 ER PT J AU Williams, DL AF Williams, Diane L. TI Making connections between the brain and behavior Invited commentary on "Disrupted cortical connectivity theory as an explanatory model for autism spectrum disorders" by RK Kana, LE Libero, and MS Moore SO PHYSICS OF LIFE REVIEWS LA English DT Editorial Material DE Functional connectivity; Autism; Information processing; Neurodevelopment C1 Duquesne Univ, Dept Speech Language Pathol, Pittsburgh, PA 15219 USA. RP Williams, DL (reprint author), Duquesne Univ, Dept Speech Language Pathol, Pittsburgh, PA 15219 USA. EM williamsd2139@duq.edu CR GABRIELI JDE, 2009, SCIENCE, V17, P280 Kana RK, 2011, PHYS LIFE REV, V8, P410, DOI 10.1016/j.plrev.2011.10.001 Karlsgodt KH, 2008, DEV PSYCHOPATHOL, V20, P1297, DOI 10.1017/S095457940800062X NR 3 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 1571-0645 J9 PHYS LIFE REV JI Phys. Life Rev. PD DEC PY 2011 VL 8 IS 4 BP 438 EP 439 DI 10.1016/j.plrev.2011.10.021 PG 2 WC Biology; Biophysics SC Life Sciences & Biomedicine - Other Topics; Biophysics GA 867MB UT WOS:000298457400020 PM 22055737 ER PT J AU Dailly, F Gousse, V AF Dailly, Fabienne Gousse, Veronique TI Adolescence and parentality in autism spectrum disorders: How do parents cope with difficulties? SO PRATIQUES PSYCHOLOGIQUES LA French DT Article DE Adolescence; Autism spectrum disorders; Parentality; Coping ID MOTHERS AB The aim of the study is to shed light on the specific period of adolescence in families having a child with autism spectrum disorder (ASD). We investigated the coping strategies used by 13 mothers having a youth with ASD, using a quantitative scale (the WCC-R), the concept of parenting being addressed by interviews. Our work shows that mothers preferentially use problem-focused coping strategies. However and paradoxically, the interviews highlight the prominence given to the support of their spouse, especially on the educational aspects but not on the emotional ones. This result highlights the difficulties of addressing the concept of "couple" in these families, facing the need to be "parents". Finally, our study highlights the concerns of mothers face the future of their children that explain - in part - the use of concrete strategies in daily life, aiming to achieve the autonomy of young people with ASD. (C) 2010 Societ francaise de psychologie. Published by Elsevier Masson SAS. All rights reserved. C1 [Gousse, Veronique] Grp Hosp Chenevier Mondor, INSERM, U995, Equipe Psychiat Genet 15, F-94000 Creteil, France. [Dailly, Fabienne] Univ Paris 08, IED, F-93526 St Denis, France. RP Gousse, V (reprint author), Grp Hosp Chenevier Mondor, INSERM, U995, Equipe Psychiat Genet 15, F-94000 Creteil, France. EM veronique.gousse@iedparis8.net CR Abbeduto L, 2004, AM J MENT RETARD, V109, P237, DOI 10.1352/0895-8017(2004)109<237:PWACIM>2.0.CO;2 Altiere M. J., 2006, THESIS E MICHIGAN U [Anonymous], 1993, CIM-10/ICD 10 APA, 1996, Manuel diagnostique et statistique des troubles mentaux Bergonnier-Dupuy G., 2007, Couple conjugal, couple parental : vers de nouveaux modeles Cousson F, 1996, PSYCHOL FR, V41-2, P155 Fombonne E, 2003, JAMA-J AM MED ASSOC, V289, P87, DOI 10.1001/jama.289.1.87 Gray D. E., 2006, Coping over time: the parents of children with autism, P2351 Houzel, 1999, Les enjeux de la parentalite Lapalus-Netter G., 1989, Psychol Med, V21, P189 Lazarus R. S., 1984, STRESS APPRAISAL COP Lenoir P, 2007, AUTISME TROUBLES DEV McCubbin H. 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PD DEC PY 2011 VL 17 IS 4 BP 329 EP 340 DI 10.1016/j.prps.2010.03.001 PG 12 WC Psychology; Psychology, Multidisciplinary SC Psychology GA 861DO UT WOS:000297999400003 ER PT J AU Kurita, H AF Kurita, Hiroshi TI How to deal with the transition from Pervasive Developmental Disorders in DSM-IV to Autism Spectrum Disorder in DSM-V SO PSYCHIATRY AND CLINICAL NEUROSCIENCES LA English DT Editorial Material ID DIAGNOSTIC INTERVIEW; CHILDHOOD AUTISM; RATING-SCALE; RELIABILITY; VALIDATION; VERSION CR ADACHI J, 2008, CLIN PSYCHIATR, V50, P431 American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th American Psychiatric Association, 2011, DSM 5 DEV PROP REV A BARONCOHEN S, 1992, BRIT J PSYCHIAT, V161, P839, DOI 10.1192/bjp.161.6.839 Chandler S, 2007, J AM ACAD CHILD PSY, V46, P1324, DOI 10.1097/chi.0b013e31812f7d8d Constantino JN, 2003, J AUTISM DEV DISORD, V33, P427, DOI 10.1023/A:1025014929212 Inada N, 2011, RES AUTISM SPECT DIS, V5, P330, DOI 10.1016/j.rasd.2010.04.016 Kurita H, 2008, PSYCHIAT CLIN NEUROS, V62, P226, DOI 10.1111/j.1440-1819.2008.01759.x LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 OSADA H, 2000, J CLIN PSYCHIAT, V29, P169 Robins DL, 2001, J AUTISM DEV DISORD, V31, P131, DOI 10.1023/A:1010738829569 SCHOPLER E, 1980, J AUTISM DEV DISORD, V10, P91, DOI 10.1007/BF02408436 Skuse D, 2004, J AM ACAD CHILD PSY, V43, P548, DOI 10.1097/00004583-200405000-00008 Tachimori H, 2003, PSYCHIAT CLIN NEUROS, V57, P113, DOI 10.1046/j.1440-1819.2003.01087.x *WHO, ALPH DRAFT INT CLASS Wing L, 2002, J CHILD PSYCHOL PSYC, V43, P307, DOI 10.1111/1469-7610.00023 NR 17 TC 0 Z9 1 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1323-1316 J9 PSYCHIAT CLIN NEUROS JI Psychiatry Clin. Neurosci. PD DEC PY 2011 VL 65 IS 7 BP 609 EP 610 DI 10.1111/j.1440-1819.2011.02268.x PG 2 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 869EG UT WOS:000298577900001 PM 22176278 ER PT J AU Olivar-Parra, JS De-La-Iglesia-Gutierrez, M Forns, M AF Olivar-Parra, Jose-Sixto De-La-Iglesia-Gutierrez, Myriam Forns, Maria TI TRAINING REFERENTIAL COMMUNICATIVE SKILLS TO INDIVIDUALS WITH AUTISM SPECTRUM DISORDER: A PILOT STUDY SO PSYCHOLOGICAL REPORTS LA English DT Article ID BEHAVIOR CHECKLIST; SELF-REGULATION; CHILDREN AB The present study reports the effects of referential communication training in individuals formally diagnosed with autism spectrum disorder (ASD). Participants were 20 children with ASD (M age = 14.3 yr., SD = 4.2; 6 girls, 14 boys) in the role of speakers and 20 control children, who acted as listeners. They were all enrolled in mainstream compulsory education. Inclusion/exclusion criteria were defined according to the clinical diagnosis of ASD, the presence or absence of additional or associated disability, previous training in referential communication, and any drug treatment. Speakers were randomly assigned to one of two groups (trained vs untrained). Linguistic age, cognitive level, and autistic symptoms were analyzed, respectively, with the Peabody Picture Vocabulary Test (PPVT), the Wechsler Intelligence Scale (WISC-R or WAIS-III), and the Autistic Behavior Checklist (ABC). Communicative abilities were analyzed through two indexes related to message complexity and self-regulation. The trained group was trained in referential communication tasks (task analysis, role taking, and task evaluation), while the untrained group took part in a communicative game but without any specific communicative training. The results showed that the complexity of emitted messages had improved statistically significantly in the trained group as an effect of training. Ecological referential communication is shown to be an appropriate paradigm for studying the communicative process and its products and could be used to develop and implement a training program focused on those skills in which individuals with ASD are most deficient. C1 [Olivar-Parra, Jose-Sixto; De-La-Iglesia-Gutierrez, Myriam] Univ Valladolid, Dept Psicol, Fac Educ & Trabajo Social, E-47011 Valladolid, Spain. [Forns, Maria] Univ Barcelona, Dept Personalitat Avaluacio & Tractament Psicol, Inst Recerca Cognicio Conducta & Cervell, E-08007 Barcelona, Spain. RP Olivar-Parra, JS (reprint author), Univ Valladolid, Dept Psicol, Fac Educ & Trabajo Social, Campus Miguel Delibes,Paseo Belen 1, E-47011 Valladolid, Spain. EM jsolivar@psi.uva.es RI Forns, Maria/F-9549-2010 CR American Psychiatric Association, 2011, DSM 5 DEV American Psychiatric Association, 2002, MAN DIAGN EST TRAST ASHER S.R., 1981, Children's oral communication skills, P105 BARONCOHEN S, 1985, COGNITION, V21, P37, DOI 10.1016/0010-0277(85)90022-8 Singer BD, 1999, LANG SPEECH HEAR SER, V30, P265 BEAL CR, 1987, CHILD DEV, V58, P401, DOI 10.1111/j.1467-8624.1987.tb01388.x BOADA H., 2009, Private speech, executive functioning, and the development of verbal self-regulation Boada H, 2004, J PSYCHOLINGUIST RES, V33, P237, DOI 10.1023/B:JOPR.0000027964.51244.d8 Boada Humbert, 1997, ANUARIO PSICOLOGIA, V75, P7 BONITATIBUS G, 1988, CHILD DEV, V59, P60 Brown A.L., 1984, ADV DEV PSYCHOL, P143 Dahlgren S, 2008, AUTISM, V12, P335, DOI 10.1177/1362361308091648 Dunn L, 2006, TEST VOCABULARIO IMA Frith U., 2003, AUTISM EXPLAINING EN Juneja M, 2010, J DEV BEHAV PEDIATR, V31, P48, DOI 10.1097/DBP.0b013e3181c7241a KRAUSS RM, 1969, CHILD DEV, V40, P255, DOI 10.1111/j.1467-8624.1969.tb06044.x Krug D. A., 1980, AUTISM SCREENING INS LLOYD P, 1992, BRIT J DEV PSYCHOL, V10, P385 LOVELAND K.A., 2008, Applied Psycholinguistics, V10, P301 Marteleto MRF, 2005, REV BRAS PSIQUIATR, V27, P295, DOI 10.1590/S1516-44462005000400008 Martinez M., 1997, ANUARIO PSICOLOGIA, V75, P37 MARTINEZ M., 1999, Anuario de Psicologia, V30, P35 Mugny G., 1983, CONSTRUCCION SOCIAL Nadig A, 2009, AUTISM RES, V2, P334, DOI 10.1002/aur.102 OLIVAR J. S., 2004, Tech. Rep. No. VA-152-04-00/2004/7621 OLIVAR J. S., 2007, [Intervencion psicoeducativa en personas con au-tismo y sindrome de Asperger, Psychoeducational intervention in people with autism and Asperger syndrome] OLIVAR J.S., 1999, [Comunicacion y trastornos del desarrollo, Communication and developmental disease] Ozonoff S., 1995, LEARNING COGNITION A, P199 PLUMERT JM, 1995, CHILD DEV, V66, P959, DOI 10.1111/j.1467-8624.1995.tb00915.x Rajendran G, 2006, J SPEECH LANG HEAR R, V49, P102, DOI 10.1044/1092-4388(2006/008) Shillingsburg MA, 2011, RES AUTISM SPECT DIS, V5, P670, DOI 10.1016/j.rasd.2010.08.004 SONNENSCHEIN S, 1984, J EXP CHILD PSYCHOL, V38, P191, DOI 10.1016/0022-0965(84)90121-8 Volden J, 1997, APPL PSYCHOLINGUIST, V18, P181, DOI 10.1017/S0142716400009966 Volkmar F. R., 2000, ASPERGER SYNDROME, P340 Wechsler D., 2001, WAIS 3 ESCALA INTELI Wechsler D., 1993, ESCALA INTELIGENCIA WORLD HEALTH ORGANIZATION, 1990, [CIE-10. Trastornos mentales y del comportamiento. Descripciones clinicas y pautas para el diagnostico ICD-10, International statistical classification of diseases and related health problems] Yule G., 1997, REFERENTIAL COMMUNIC NR 38 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 DEC PY 2011 VL 109 IS 3 BP 921 EP 939 DI 10.2466/10.11.15.28.PR0.109.6.921-939 PG 19 WC Psychology, Multidisciplinary SC Psychology GA 877NH UT WOS:000299188700017 PM 22420121 ER PT J AU [Anonymous] AF [Anonymous] TI Will we ever understand autism? SO PSYCHOLOGIST LA English DT News Item NR 0 TC 0 Z9 0 PU BRITISH PSYCHOLOGICAL SOC PI LEICESTER PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND SN 0952-8229 J9 PSYCHOLOGIST JI Psychologist PD DEC PY 2011 VL 24 IS 12 BP 884 EP 885 PG 2 WC Psychology, Multidisciplinary SC Psychology GA 856CK UT WOS:000297614100017 ER PT J AU Baldacara, L Diniz, T Parreira, B Milhomem, J Baldacara, R AF Baldacara, Leonardo Diniz, Thaynne Parreira, Bruna Milhomem, Jaqueline Baldacara, Raquel TI Organic mental disorder after pneumococcal meningoencephalitis with autism-like symptoms SO REVISTA BRASILEIRA DE PSIQUIATRIA LA English DT Letter ID TEMPORAL-LOBE C1 [Baldacara, Leonardo] Univ Fed Tocantins, Univ Fed Sao Paulo UNIFESP, Sao Paulo, Brazil. RP Baldacara, L (reprint author), Univ Fed Tocantins, Univ Fed Sao Paulo UNIFESP, Sao Paulo, Brazil. RI Baldacara, Leonardo/I-1372-2012 CR Amaral DG, 2008, TRENDS NEUROSCI, V31, P137, DOI 10.1016/j.tins.2007.12.005 Bachevalier J, 1996, J AUTISM DEV DISORD, V26, P217, DOI 10.1007/BF02172015 Gadia Carlos A, 2004, J Pediatr (Rio J), V80, pS83 GREER MK, 1989, J AUTISM DEV DISORD, V19, P317, DOI 10.1007/BF02211849 Verhoeven JS, 2010, NEURORADIOLOGY, V52, P3, DOI 10.1007/s00234-009-0583-y NR 5 TC 1 Z9 1 PU ASSOC BRASILEIRA PSIQUIATRIA PI SAO PAULO PA SUBSCRIPTION DEPARTMENT, RUA PEDRO DE TOLEDO, 967 - CASA 01, SAO PAULO, SP 04039-032 A, BRAZIL SN 1516-4446 J9 REV BRAS PSIQUIATR JI Rev. Bras. Psiquiatr. PD DEC PY 2011 VL 33 IS 4 BP 410 EP 411 PG 2 WC Psychiatry SC Psychiatry GA 865SV UT WOS:000298331500016 PM 22189932 ER PT J AU Hirvela, S Helkama, K AF Hirvela, Shari Helkama, Klaus TI Empathy, values, morality and Asperger's syndrome SO SCANDINAVIAN JOURNAL OF PSYCHOLOGY LA English DT Article DE Values; empathy; morality; autism; Asperger's; Asperger; emotions; moral ID VALUE PRIORITIES; AUTISM; GUILT; SCHEMAS; GENDER; SHAME; MIND AB The aims of this study were, first, to re-address the issue of empathy among people with autism conditions; second, to explore the relationships between empathy and values among autistic populations and controls; and third, to explore the capacity for moral agency among those affected by autism. We compared responses of an Asperger group (N = 41) and a control group (N = 139) to measures of self-reported empathy (Davis's IRI) and value priorities (Schwartz's PVQ). Control group results were largely in line with previous studies, such that empathy subscales of perspective taking and empathic concern showed their strongest positive and negative relations to the Schwartz self-transcendence/self-enhancement dimensions. Results for the Asperger group showed that although on the one hand there were self-reported difficulties in perspective taking and the cognitive recognition of affect, and that on the other hand there were less connections between the empathy and value measures, there was nevertheless a comparable prioritization of moral values. Conclusions suggest that different people may acquire moral values through different mechanisms. C1 [Hirvela, Shari] Univ Helsinki, Dept Social Res, Unit Social Psychol, FIN-00014 Helsinki, Finland. RP Hirvela, S (reprint author), Univ Helsinki, Dept Social Res, Unit Social Psychol, Box 54, FIN-00014 Helsinki, Finland. 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PD DEC PY 2011 VL 52 IS 6 BP 560 EP 572 DI 10.1111/j.1467-9450.2011.00913.x PG 13 WC Psychology, Multidisciplinary SC Psychology GA 859AT UT WOS:000297847000007 PM 21967087 ER PT J AU Smith, M AF Smith, Matthew TI A History of Autism: Conversations with the Pioneers SO SOCIAL HISTORY OF MEDICINE LA English DT Book Review C1 [Smith, Matthew] Univ Strathclyde, Glasgow G1 1XQ, Lanark, Scotland. RP Smith, M (reprint author), Univ Strathclyde, Glasgow G1 1XQ, Lanark, Scotland. EM m.smith@strath.ac.uk CR Feinstein Adam, 2010, HIST AUTISM CONVERSA NR 1 TC 0 Z9 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0951-631X J9 SOC HIST MED JI Soc. Hist. Med. PD DEC PY 2011 VL 24 IS 3 BP 847 EP 848 DI 10.1093/shm/hkr109 PG 2 WC History & Philosophy Of Science SC History & Philosophy of Science GA 853CT UT WOS:000297404500040 ER PT J AU Hillier, A Murphy, D Ferrara, C AF Hillier, Ashleigh Murphy, Deirdra Ferrara, Cynthia TI A Pilot Study: Short-term Reduction in Salivary Cortisol Following Low Level Physical Exercise and Relaxation among Adolescents and Young Adults on the Autism Spectrum SO STRESS AND HEALTH LA English DT Article DE autism spectrum disorder; psychological stress; physical activity; exercise and anxiety ID CIRCADIAN-RHYTHMS; STRESS; CHILDREN; DISORDERS; ENDOCRINE; BEHAVIORS; RESPONSES; MEN AB Many adolescents and young adults with autism spectrum disorders (ASD) experience high levels of stress and anxiety. The purpose of this pilot study was to examine whether physical exercise and relaxation could reduce stress and anxiety among those with ASD. Salivary cortisol levels were collected before and after each of three sessions during an 8-week exercise programme. Our findings showed a significant reduction in cortisol at the end of the sessions compared with the beginning. This was supported by a self-report anxiety measure. Although reductions in these stress measures were not sustained over time, our results highlight the potential of exercise and relaxation for improving symptoms of stress. Future studies are needed which examine longer term reductions in stress following physical exercise interventions. Copyright (C) 2011 John Wiley & Sons, Ltd. C1 [Hillier, Ashleigh; Murphy, Deirdra; Ferrara, Cynthia] Univ Massachusetts, Lowell, MA 01854 USA. RP Hillier, A (reprint author), Univ Massachusetts, 1 Mahoney Hall,870 Broadway St, Lowell, MA 01854 USA. 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E. Halldner, Linda Bolte, Sven Gillberg, Christopher Gumpert, Clara Rastam, Maria Lichtenstein, Paul TI The Child and Adolescent Twin Study in Sweden (CATSS) SO TWIN RESEARCH AND HUMAN GENETICS LA English DT Article DE neuropsychiatry; genetics; epidemiology; childhood; age at onset; twins ID AUTISM SPECTRUM DISORDERS; DEFICIT HYPERACTIVITY DISORDER; HIGH-FUNCTIONING AUTISM; CHARACTER INVENTORY; ASPERGER-SYNDROME; SELF-REPORT; NEUROPSYCHIATRIC DISORDERS; TELEPHONE INTERVIEW; JUNIOR TEMPERAMENT; GENERAL-POPULATION AB The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing longitudinal twin study targeting all twins born in Sweden since July 1, 1992. Since 2004, parents of twins are interviewed regarding the children's somatic and mental health and social environment in connection with their 9th or 12th birthdays (CATSS-9/12). By January 2010, 8,610 parental interviews concerning 17,220 twins had been completed, with an overall response rate of 80%. At age 15 (CATSS-15) and 18 (CATSS-18), twins and parents complete questionnaires that, in addition to assessments of somatic and mental health, include measures of personality development and psychosocial adaptation. Twin pairs in CATSS-9/12 with one or both twins screening positive for autism spectrum disorders, attention deficit/hyperactivity disorder, tic disorders, developmental coordination disorder, learning disorders, oppositional defiant disorder, conduct disorder, obsessive-compulsive disorder, and/or eating problems have been followed with in-depth questionnaires on family, social environment and personality, and subsequently by clinical assessments at age 15 together with randomly selected population controls, including 195 clinically assessed twin pairs from the first 2 year cohorts (CATSS-15/DOGSS). This article describes the cohorts and study groups, data collection, and measures used. Prevalences, distributions, heritability estimates, ages at onset, and sex differences of mental health problems in the CATSS-9/12, that were analyzed and found to be overall comparable to those of other clinical and epidemiological studies. The CATSS study has the potential of answering important questions on the etiology of childhood mental health problems and their role in the development of later adjustment problems. C1 [Gillberg, Christopher; Rastam, Maria] Univ Gothenburg, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden. [Anckarsater, Henrik; Lundstrom, Sebastian] Lund Univ, Dept Clin Sci, S-22100 Lund, Sweden. [Lundstrom, Sebastian; Kerekes, Nora; Langstrom, Niklas] Swedish Prison & Probat Serv, R&D Unit, Norrkoping, Sweden. [Kollberg, Linnea; Palm, Camilla; Carlstrom, Eva; Langstrom, Niklas; Magnusson, Patrik K. E.; Halldner, Linda; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. [Halldner, Linda; Bolte, Sven] Karolinska Inst Ctr Neurodev Disorders KIND, Stockholm, Sweden. [Bolte, Sven] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden. [Gillberg, Christopher] Univ Glasgow, Dept Child & Adolescent Psychiat, Glasgow G12 8QQ, Lanark, Scotland. [Gumpert, Clara] Karolinska Inst, Sect Forens Psychiat, Dept Clin Neurosci, Stockholm, Sweden. [Rastam, Maria] Lund Univ, Dept Clin Sci Child & Adolescent Psychiat, S-22100 Lund, Sweden. RP Anckarsater, H (reprint author), Lillhagspk 3, S-42205 Hisings Backa, Sweden. EM henrik.anckarsater@neuro.gu.se RI Kerekes, Nora/C-6474-2009 FU Swedish Council for Working Life and Social Research; Swedish Research Council, Systembolaget; National Board of Forensic Medicine; Swedish Prison and Probation Service; Bank of Sweden Tercentenary Foundation; Soderstrom-Konigska foundation; Karolinska Institutet Center of Neurodevelopmental Disorders (KIND) FX The CATSS/DOGSS is supported by the Swedish Council for Working Life and Social Research, the Swedish Research Council, Systembolaget, the National Board of Forensic Medicine, the Swedish Prison and Probation Service, Bank of Sweden Tercentenary Foundation, the Soderstrom-Konigska foundation, and the Karolinska Institutet Center of Neurodevelopmental Disorders (KIND). 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PD DEC PY 2011 VL 14 IS 6 BP 495 EP 508 DI 10.1375/twin.14.6.495 PG 14 WC Genetics & Heredity; Obstetrics & Gynecology SC Genetics & Heredity; Obstetrics & Gynecology GA 869VA UT WOS:000298625100001 PM 22506305 ER PT J AU Pauls, A Tian, N Ivanco, TL AF Pauls, Ashley Tian, Na Ivanco, Tammy Leanne TI Early motor behaviour in the VPA rat model of autism SO CANADIAN JOURNAL OF EXPERIMENTAL PSYCHOLOGY-REVUE CANADIENNE DE PSYCHOLOGIE EXPERIMENTALE LA English DT Meeting Abstract C1 [Pauls, Ashley; Tian, Na; Ivanco, Tammy Leanne] Univ Manitoba, Winnipeg, MB R3T 2N2, Canada. NR 0 TC 0 Z9 0 PU CANADIAN PSYCHOLOGICAL ASSOC PI OTTAWA PA 141 LAURIER AVE WEST, STE 702, OTTAWA, ONTARIO K1P 5J3, CANADA SN 1196-1961 J9 CAN J EXP PSYCHOL JI Can. J. Exp. Psychol.-Rev. Can. Psychol. Exp. PD DEC PY 2011 VL 65 IS 4 BP 294 EP 295 PG 2 WC Psychology, Experimental SC Psychology GA 856TX UT WOS:000297667400015 ER PT J AU Muratori, F Narzisi, A Tancredi, R Cosenza, A Calugi, S Saviozzi, I Santocchi, E Calderoni, S AF Muratori, F. Narzisi, A. Tancredi, R. Cosenza, A. Calugi, S. Saviozzi, I. Santocchi, E. Calderoni, S. TI The CBCL 1.5-5 and the identification of preschoolers with autism in Italy SO EPIDEMIOLOGY AND PSYCHIATRIC SCIENCES LA English DT Article DE Autistic disorder; behaviour; early diagnosis; questionnaires ID BEHAVIORAL-PROBLEMS; SPECTRUM DISORDERS; YOUNG-CHILDREN; DIAGNOSIS; EPIDEMIOLOGY; PATTERNS; PARENTS; SCREEN; RISK AB Aims. To study the potential use of child behaviour checklist (CBCL) 1.5-5 scales for the early identification of preschoolers at risk of autism. Methods. CBCL scores of three groups of preschoolers were compared: (1) an experimental group of 101 preschoolers with autism spectrum disorder (ASD); (2) a control group of 95 preschoolers with other psychiatric disorders (OPD); (3) a control group of 117 preschoolers with typical development (TD). One-way analysis of variance (ANOVA), logistic regression with odds ratio (OR) and receiver operating characteristic (ROC) analyses were performed. Results. ANOVA revealed that ASD and OPD had significantly higher scores in almost all CBCL scales than TD. ASD presented significantly higher scores than OPD on Withdrawn, Attention Problems and Pervasive Developmental Problems (PDP) scales. Logistic regression analysis demonstrated that these same CBCL scales have validity in predicting the presence of an ASD towards both TD and OPD. ROC analysis indicated high sensitivity and specificity for PDP (0.85 and 0.90) and Withdrawn (0.89 and 0.92) scales when ASD is compared to TD. Specificity (0.60 for PDP and 0.65 for Withdrawn) decreases when comparing ASD and OPD Conclusions. The PDP and Withdrawn scales have a good predictive validity so that they could be proposed as a first-level tool to identify preschoolers at risk of autism in primary care settings. Problems regarding the lower specificity when comparing ASD v. OPD are discussed. C1 [Muratori, F.; Narzisi, A.; Tancredi, R.; Cosenza, A.; Calugi, S.; Saviozzi, I.; Santocchi, E.; Calderoni, S.] Univ Pisa, Stella Maris Sci Inst, Div Child Neurol & Psychiat, I-56018 Pisa, Italy. RP Muratori, F (reprint author), Univ Pisa, Stella Maris Sci Inst, Div Child Neurol & Psychiat, Via Giacinti 2, I-56018 Pisa, Italy. 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Psychiatr. Sci. PD DEC PY 2011 VL 20 IS 4 BP 329 EP 338 DI 10.1017/S204579601100045X PG 10 WC Psychiatry SC Psychiatry GA 861XI UT WOS:000298053400008 PM 22201210 ER PT J AU Ameur, A Zaghlool, A Halvardson, J Wetterbom, A Gyllensten, U Cavelier, L Feuk, L AF Ameur, Adam Zaghlool, Ammar Halvardson, Jonatan Wetterbom, Anna Gyllensten, Ulf Cavelier, Lucia Feuk, Lars TI Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain SO NATURE STRUCTURAL & MOLECULAR BIOLOGY LA English DT Article ID PRE-MESSENGER-RNA; AUTISM SPECTRUM DISORDER; HUMAN GENES; SCHIZOPHRENIA; SEQ; IDENTIFICATION; VULNERABILITY; RECRUITMENT; DISRUPTION; NEURONS AB Transcriptome sequencing allows for analysis of mature RNAs at base pair resolution. Here we show that RNA-seq can also be used for studying nascent RNAs undergoing transcription. We sequenced total RNA from human brain and liver and found a large fraction of reads (up to 40%) within introns. Intronic RNAs were abundant in brain tissue, particularly for genes involved in axonal growth and synaptic transmission. Moreover, we detected significant differences in intronic RNA levels between fetal and adult brains. We show that the pattern of intronic sequence read coverage is explained by nascent transcription in combination with co-transcriptional splicing. Further analysis of co-transcriptional splicing indicates a correlation between slowly removed introns and alternative splicing. Our data show that sequencing of total RNA provides unique insight into the transcriptional processes in the cell, with particular importance for normal brain development. C1 [Ameur, Adam; Zaghlool, Ammar; Halvardson, Jonatan; Gyllensten, Ulf; Cavelier, Lucia; Feuk, Lars] Uppsala Univ, Rudbeck Lab, Dept Immunol Genet & Pathol, Sci Life Lab Uppsala, Uppsala, Sweden. [Wetterbom, Anna] Karolinska Inst Sci Pk, Science Life Lab, Stockholm, Sweden. RP Cavelier, L (reprint author), Uppsala Univ, Rudbeck Lab, Dept Immunol Genet & Pathol, Sci Life Lab Uppsala, Uppsala, Sweden. EM lucia.cavelier@igp.uu.se; lars.feuk@igp.uu.se FU Swedish Foundation for Strategic Research; Marcus Borgstrom Foundation; Goran Gustafsson Foundation FX We thank B. Roken at the Kolmarden Zoo for sharing the chimpanzee tissue sample. We also acknowledge the staff members at the Uppsala Genome Center, who conducted the SOLiD sequencing. Financial support for this project was obtained from the Swedish Foundation for Strategic Research (L.F.), the Marcus Borgstrom Foundation (L.C. and L.F.) and the Goran Gustafsson Foundation (L.F.). 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Neurol. PD DEC PY 2011 VL 45 IS 6 BP 355 EP 367 DI 10.1016/j.pediatrneurol.2011.08.010 PG 13 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 859OL UT WOS:000297885600001 PM 22114996 ER PT J AU Nor, NSM le Couteur, A AF Nor, N. Safiza Mohamad le Couteur, A. TI RELIABILITY AND VALIDITY OF A NEW STANDARDISED QUESTIONNAIRE FOR THE EARLY IDENTIFICATION OF FEEDING PROBLEMS AND GASTROINTESTINAL SYMPTOMS IN YOUNG CHILDREN WITH AUTISM SPECTRUM DISORDERS SO ACTA PAEDIATRICA LA English DT Meeting Abstract C1 [Nor, N. Safiza Mohamad; le Couteur, A.] Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0803-5253 J9 ACTA PAEDIATR JI Acta Paediatr. PD DEC PY 2011 VL 100 SU 463 SI SI BP 35 EP 36 PG 2 WC Pediatrics SC Pediatrics GA 854OD UT WOS:000297503200079 ER PT J AU Gyltidou, S Zaloumi, P Gougoulis, I AF Gyltidou, S. Zaloumi, P. Gougoulis, I. TI EDUCATIONAL PROGRAMMES FOR CHILDREN WITH AUTISM SO ACTA PAEDIATRICA LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 0803-5253 J9 ACTA PAEDIATR JI Acta Paediatr. PD DEC PY 2011 VL 100 SU 463 SI SI BP 119 EP 120 PG 2 WC Pediatrics SC Pediatrics GA 854OD UT WOS:000297503200245 ER PT J AU Audouze, K Grandjean, P AF Audouze, Karine Grandjean, Philippe TI Application of Computational Systems Biology to Explore Environmental Toxicity Hazards SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Article DE computational biology; DDT; genomics; proteomics; systems biology ID IN-UTERO EXPOSURE; MOLECULAR INTERACTION DATABASE; ORGANOCHLORINE EXPOSURE; INTERACTION NETWORK; PRENATAL EXPOSURE; CHEMICAL BIOLOGY; BREAST-CANCER; DDT EXPOSURE; UPDATE; RISK AB BACKGROUND: Computer-based modeling is part of a new approach to predictive toxicology. OBJECTIVES: We investigated the usefulness of an integrated computational systems biology approach in a case study involving the isomers and metabolites of the pesticide dichlorodiphenyltrichloroethane (DDT) to ascertain their possible links to relevant adverse effects. METHODS: We extracted chemical protein association networks for each DDT isomer and its metabolites using Chem Prot, a disease chemical biology database that includes both binding and gene expression data, and we explored protein protein interactions using a human interactome network. To identify associated dysfunctions and diseases, we integrated protein disease annotations into the protein complexes using the Online Mendelian Inheritance in Man database and the Comparative Toxicogenomics Database. RESULTS: We found 175 human proteins linked to p,p'-DDT, and 187 to o,p'-DDT. Dichlorodiphenyldichloroethylene (p,p'-DDE) was the metabolite with the highest number of links, with 52. We grouped proteins for each compound based on their disease annotations. Although the two data sources differed in linkage to diseases, integrated results predicted that most diseases were linked to the two DDT isomers. Asthma was uniquely linked with p,p'-DDT, and autism with o,p'-DDT. Several reproductive and neurobehavioral outcomes and cancer types were linked to all three compounds. CONCLUSIONS: Computer-based modeling relies on available information. Although differences in linkages to proteins may be due to incomplete data, our results appear meaningful and suggest that the parent DDT compounds may be responsible for more disease connections than the metabolites. The findings illustrate the potential use of computational approaches to toxicology. C1 [Audouze, Karine] Tech Univ Denmark, Ctr Biol Sequence Anal, Dept Syst Biol, DK-2800 Lyngby, Denmark. [Grandjean, Philippe] Univ So Denmark, Inst Publ Hlth, Odense, Denmark. [Grandjean, Philippe] Harvard Univ, Sch Publ Hlth, Dept Environm Hlth, Boston, MA 02115 USA. RP Audouze, K (reprint author), Tech Univ Denmark, Ctr Biol Sequence Anal, Dept Syst Biol, DK-2800 Lyngby, Denmark. EM karine@cbs.dtu.dk FU Villum Kann Rasmussen Foundation; EU Innovative Medicines Initiative Joint Undertaking (eTOX); National Institute for Environmental Health Sciences [ES 012199, ES 013692] FX This work was supported by the Villum Kann Rasmussen Foundation, the EU Innovative Medicines Initiative Joint Undertaking (eTOX), and the National Institute for Environmental Health Sciences (grants ES 012199 and ES 013692). 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Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of other neurodevelopmental conditions, many of which are more common in typical males than typical females (e.g., autism and attention-deficit hyperactivity disorder). This phenotype may reflect gonadal steroid deficiency, haploinsufficiency of X chromosome genes, failure to express parentally imprinted genes, and the uncovering of X chromosome mutations. Understanding the contribution of these different mechanisms to outcome has the potential to improve clinical care for individuals with TS and to better our understanding of the differential vulnerability to and expression of neurodevelopmental disorders in males and females. 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Neurodev. Disord. PD DEC PY 2011 VL 3 IS 4 SI SI BP 293 EP 306 DI 10.1007/s11689-011-9089-0 PG 14 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 858JW UT WOS:000297794000001 PM 21818630 ER PT J AU Croen, LA Connors, SL Matevia, M Qian, YG Newschaffer, C Zimmerman, AW AF Croen, Lisa A. Connors, Susan L. Matevia, Marilyn Qian, Yinge Newschaffer, Craig Zimmerman, Andrew W. TI Prenatal exposure to beta 2-adrenergic receptor agonists and risk of autism spectrum disorders SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS LA English DT Article DE Asthma; Beta 2 adrenergic agonist; B2AR agonists; Autistic; Perinatal risk factors; Terbutaline ID PRETERM LABOR; BRAIN-REGIONS; TERBUTALINE; NEUROINFLAMMATION; ABNORMALITIES; SENSITIZATION; ACTIVATION; RITODRINE; TOCOLYSIS; ASTHMA AB This study aims to investigate the association between prenatal exposure to terbutaline and other beta 2 adrenergic receptor (B2AR) agonists and autism spectrum disorders (ASDs). The methodology used is a case-control study among children born from 1995 to 1999 at Kaiser Permanente Northern California hospitals. Cases (n=291) were children with an ASD diagnosis; controls (n=284) were children without ASDs, randomly sampled and frequency-matched to cases on sex, birth year, and delivery hospital. Exposure to B2AR agonists during 30 days prior to conception and each trimester of pregnancy was ascertained from prenatal medical records and health plan databases. The frequency of exposure to any B2AR agonist during pregnancy was similar for mothers of children with ASD and mothers of controls (18.9% vs. 14.8%, P=0.19). Exposure to B2AR agonists other than terbutaline was not associated with an increased risk for ASDs. However, terbutaline exposure for >2 days during the third trimester was associated with more than a fourfold increased risk for ASDs independent of indication although the limited sample size resulted in an imprecise and nonsignificant effect estimate (OR(adj)=4.4; 95% confidence interval, 0.8-24.6). This analysis does not offer evidence linking B2AR exposure in pregnancy with autism risk. However, exposure to terbutaline during the third trimester for >2 days may be associated with an increased risk of autism. Should this result be confirmed in larger samples, it would point to late pregnancy as an etiologic window of interest in autism risk factor research. C1 [Croen, Lisa A.; Matevia, Marilyn; Qian, Yinge] Kaiser Permanente No Calif, Div Res, Oakland, CA 94612 USA. [Connors, Susan L.; Zimmerman, Andrew W.] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA. [Connors, Susan L.] Massachusetts Gen Hosp, LADDERS Clin, Dept Med, Cambridge, MA 02142 USA. [Connors, Susan L.] Massachusetts Gen Hosp, LADDERS Clin, Dept Pediat, Cambridge, MA 02142 USA. [Newschaffer, Craig] Drexel Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Philadelphia, PA 19102 USA. [Zimmerman, Andrew W.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21205 USA. [Zimmerman, Andrew W.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA. [Zimmerman, Andrew W.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA. [Zimmerman, Andrew W.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA. [Zimmerman, Andrew W.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. RP Croen, LA (reprint author), Kaiser Permanente No Calif, Div Res, 2000 Broadway, Oakland, CA 94612 USA. EM lisa.a.croen@kp.org FU Centers for Disease Control and Prevention [U10/CCU920392]; Kaiser Foundation Research Institute; Autism Speaks FX We thank Dorothy E. Crowell for bringing the issue of terbutaline exposure to our attention, Theodore A. Slotkin, PhD, for his extensive work on the B2AR and valuable advice; James P. Reichmann, MBA, American Home Patient, Brentwood, TN; and Kaht Dorward, MD, Kaiser Permanente Northern California, for helpful historical insights concerning the use of terbutaline for tocolysis. We also thank Roxana Odouli, MSPH, for her help with project coordination; Darmell Brown and Martha Estrada for performing all medical record review and abstraction; and Cathleen Yoshida, MS, for preparing and managing all study data files. This study was funded by grants from the Centers for Disease Control and Prevention, U10/CCU920392, Kaiser Foundation Research Institute and Autism Speaks. 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Neurodev. Disord. PD DEC PY 2011 VL 3 IS 4 SI SI BP 307 EP 315 DI 10.1007/s11689-011-9093-4 PG 9 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 858JW UT WOS:000297794000002 PM 21874331 ER PT J AU Flores, CG Valcante, G Guter, S Zaytoun, A Wray, E Bell, L Jacob, S Lewis, MH Driscoll, DJ Cook, EH Kim, SJ AF Flores, Cindi G. Valcante, Gregory Guter, Steve Zaytoun, Annette Wray, Emily Bell, Lindsay Jacob, Suma Lewis, Mark H. Driscoll, Daniel J. Cook, Edwin H., Jr. Kim, Soo-Jeong TI Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS LA English DT Article DE RRB; ASD; PWS; RBS-R ID LINKAGE-DISEQUILIBRIUM; PROXIMAL 15Q; UNIPARENTAL DISOMY; MENTAL-RETARDATION; ANGELMAN-SYNDROMES; ASSOCIATION; INDIVIDUALS; CHILDREN; DELETION; COMPULSIONS AB Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC+UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >= 15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >= 15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >= 15. C1 [Kim, Soo-Jeong] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA. [Flores, Cindi G.; Valcante, Gregory; Zaytoun, Annette; Wray, Emily; Bell, Lindsay; Lewis, Mark H.; Kim, Soo-Jeong] Univ Florida, Dept Psychiat, Gainesville, FL 32611 USA. [Guter, Steve; Jacob, Suma; Cook, Edwin H., Jr.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA. [Driscoll, Daniel J.] Univ Florida, Dept Pediat, Gainesville, FL USA. [Kim, Soo-Jeong] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. RP Kim, SJ (reprint author), Seattle Childrens Res Inst, Ctr Integrat Brain Res, M-S C9S-10,1900 9th Ave, Seattle, WA 98101 USA. EM kimsooj@uw.edu FU NARSAD; PWSA (USA); NIH [R03MH083673, K23MH082883, K23MH082121]; NIH Autism Center of Excellence [P50 HD055751] FX We extend our sincere gratitude to our research participants and their family members for their enthusiastic support and participation in our study. We gratefully acknowledge Susan Craft, Krista Garner, Christy Lynn, Christine Keeling, the UF Child & Adolescent Psychiatry fellows (Drs. Isaac Isaac, Kristina Kise, Thomas Simeone, Julian Walters, Trina Webb, and Catrina Wilkins), the staff of the UF Center for Autism and Related Disabilities (CARD), and Dr. Jennifer L. Miller for their expert assistance with participants' assessment and recruitment. This work was supported in part by a 2007 NARSAD young investigator award (SJK), the 2008 PWSA (USA) Research Award (SJK), NIH R03MH083673 (SJK), NIH K23MH082883 (SJK), NIH K23MH082121 (SJ), and NIH Autism Center of Excellence P50 HD055751 (EHC). 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Neurodev. Disord. PD DEC PY 2011 VL 3 IS 4 SI SI BP 316 EP 324 DI 10.1007/s11689-011-9094-3 PG 9 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 858JW UT WOS:000297794000003 PM 21881965 ER PT J AU Skwerer, DP Ammerman, E Andre, MC Ciciolla, L Fine, AB Tager-Flusberg, H AF Skwerer, Daniela Plesa Ammerman, Emily Andre, Marie-Christine Ciciolla, Lucia Fine, Alex B. Tager-Flusberg, Helen TI A multimeasure approach to investigating affective appraisal of social information in Williams syndrome SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS LA English DT Article DE Williams syndrome; Autonomic reactivity; Social phenotype; Appraisal style ID GENETIC INFLUENCES; YOUNG-CHILDREN; DOWN-SYNDROME; HYPERSOCIABILITY; AMYGDALA; AUTISM; ATTENTION; COGNITION; RECOGNITION; PERCEPTION AB People with Williams syndrome (WS) have been consistently described as showing heightened sociability, gregariousness, and interest in people, in conjunction with an uneven cognitive profile and mild to moderate intellectual or learning disability. To explore the mechanisms underlying this unusual social-behavioral phenotype, we investigated whether individuals with WS show an atypical appraisal style and autonomic responsiveness to emotionally laden images with social or nonsocial content. Adolescents and adults with WS were compared to chronological age-matched and nonverbal mental age-matched groups in their responses to positive and negative images with or without social content, using measures of self-selected viewing time (SSVT), autonomic arousal reflected in pupil dilation measures, and likeability ratings. The participants with WS looked significantly longer at the social images compared to images without social content and had reduced arousal to the negative social images compared to the control groups. In contrast to the comparison groups, the explicit ratings of likeability in the WS group did not correlate with their SSVT; instead, they reflected an appraisal style of more extreme ratings. This distinctive pattern of viewing interest, likeability ratings, and autonomic arousal to images with social content in the WS group suggests that their heightened social drive may be related to atypical functioning of reward-related brain systems reflected in SSVT and autonomic reactivity measures, but not in explicit ratings. C1 [Skwerer, Daniela Plesa; Ammerman, Emily; Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Boston, MA 02115 USA. [Andre, Marie-Christine] Suffolk Univ, Dept Psychol, Boston, MA 02114 USA. [Ciciolla, Lucia] Arizona State Univ, Dept Psychol, Tempe, AZ 85287 USA. [Fine, Alex B.] Univ Rochester, Dept Brain & Cognit Sci, New York, NY USA. RP Skwerer, DP (reprint author), Boston Univ, Dept Psychol, 64 Cummington St 126C, Boston, MA 02115 USA. EM dplesas@bu.edu FU National Institute of Child Health and Human Development [RO1 HD 33470]; National Center for Research Resources (NCRR), a component of the National Institute of Health (NIH) [1UL1RR025771] FX This research was supported by grants from the National Institute of Child Health and Human Development (RO1 HD 33470) and by the CTSA Grant Number 1UL1RR025771 from the National Center for Research Resources (NCRR), a component of the National Institute of Health (NIH). Its contents are solely the responsibility of the authors and do not necessarily represent the official view of NCRR or NIH. We express our sincere thanks to the National Williams Syndrome Association for their help in recruiting participants and to the families and individuals who participated in this study. We gratefully acknowledge Nicole Crawford and Meaghan Kennedy for their help with experiment design and development, Lan Nguyen for her efforts in testing participants, and Alex Storer for his help with data processing and analysis. 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Neurodev. Disord. PD DEC PY 2011 VL 3 IS 4 SI SI BP 325 EP 334 DI 10.1007/s11689-011-9100-9 PG 10 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 858JW UT WOS:000297794000004 ER PT J AU Pierpont, EI Richmond, EK Abbeduto, L Kover, ST Brown, WT AF Pierpont, Elizabeth I. Richmond, Erica Kesin Abbeduto, Leonard Kover, Sara T. Brown, W. Ted TI Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS LA English DT Article DE Fragile X syndrome; Language; Phonological memory; Working memory; Nonword repetition; Digit span ID SHORT-TERM-MEMORY; NONWORD REPETITION PERFORMANCE; WITHIN-SYNDROME DIFFERENCES; AUTISM SPECTRUM DISORDERS; DOWN-SYNDROME; YOUNG-CHILDREN; FULL MUTATION; FMR1 GENE; IMPAIRMENT; VOCABULARY AB Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its cognitive predictors are well understood. The present study investigated whether phonological and working memory skills are predictive of growth in vocabulary and syntax in individuals with FXS during adolescence. Forty-four individuals with FXS (mean age=12.61 years) completed assessments of phonological memory (nonword repetition and forward digit recall), verbal working memory (backward digit recall), vocabulary, syntax, and nonverbal cognition. Vocabulary and syntax skills were reassessed at a 2-year follow-up. In a series of analyses that controlled for nonverbal cognitive ability and severity of autism symptoms, the relative contributions of phonological and working memory to language change over time were investigated. These relationships were examined separately for boys and girls. In boys with FXS, phonological memory significantly predicted gains in vocabulary and syntax skills. Further, verbal working memory was uniquely associated with vocabulary gains among boys. In girls with FXS, phonological and working memory skills showed no relationship with language change across the 2-year time period. Our findings indicate that, for adolescent boys with FXS, acquisition of vocabulary and syntax may be constrained by the ability to maintain and manipulate phonological representations online. Implications for the identification and treatment of language disorders in this population are discussed. The present study is the first to identify specific cognitive mechanisms contributing to language growth over time in individuals with FXS. C1 [Pierpont, Elizabeth I.] Univ Wisconsin, Dept Psychol, Madison, WI 53706 USA. [Brown, W. Ted] Inst Basic Res Dev Disabil, Staten Isl, NY USA. [Richmond, Erica Kesin; Kover, Sara T.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA. 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PD DEC PY 2011 VL 3 IS 4 SI SI BP 335 EP 347 DI 10.1007/s11689-011-9095-2 PG 13 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 858JW UT WOS:000297794000005 PM 21993552 ER PT J AU Paracchini, S AF Paracchini, Silvia TI Dissection of genetic associations with language-related traits in population-based cohorts SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS LA English DT Article DE Epidemiology; Cognition; Language; Dyslexia; Quantitative genetics; Association studies; Neurodevelopmental disorders ID AUTISM SPECTRUM DISORDERS; GENOME-WIDE ASSOCIATION; SHORT-TERM-MEMORY; DEVELOPMENTAL DYSLEXIA; SUSCEPTIBILITY GENE; READING-DISABILITY; CHROMOSOME 6P; IMPAIRMENT; KIAA0319; LINKAGE AB Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples including population-based cohorts, which can be characterised for a large number of relevant cognitive measures. The availability of a wide range of phenotypes allows us to not only identify the most suitable traits for replication of genetic association but also to refine the associated cognitive trait. In addition, it is possible to test for pleiotropic effects across multiple phenotypes which could explain the extensive comorbidity observed across SLI, dyslexia and other neurodevelopmental disorders. The availability of genome-wide genotype data for such cohorts will facilitate this kind of analysis but important issues, such as multiple test corrections, have to be taken into account considering that small effect sizes are expected to underlie such associations. C1 [Paracchini, Silvia] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England. RP Paracchini, S (reprint author), Univ St Andrews, Sch Med, St Andrews KY16 9TF, Fife, Scotland. EM sp58@st-andrews.ac.uk FU Wellcome Trust [076566/Z/05/Z, 075491/Z/04]; Medical Research Council [G0800523/86473] FX The author was supported by the Wellcome Trust [076566/Z/05/Z]; [075491/Z/04] and the Medical Research Council [G0800523/86473]. The author thanks Dianne Newbury and Tom Scerri for useful comments to the manuscript. The Merrill Advanced Studies Center provided the opportunity to present and discuss this work at the Annual Merrill conference. 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TI Neurexins and Neuroligins: Recent Insights from Invertebrates SO MOLECULAR NEUROBIOLOGY LA English DT Article DE Drosophila; Neuromuscular junction; Cell adhesion molecule; Synaptic development; Neurexin; Neuroligin ID DROSOPHILA NEUROMUSCULAR-JUNCTIONS; GLUTAMATE-RECEPTOR SUBUNIT; INHIBITORY SYNAPTIC-TRANSMISSION; CELL-ADHESION MOLECULE; TUMOR-SUPPRESSOR GENE; ALPHA-NEUREXINS; BETA-NEUREXINS; STRUCTURAL PLASTICITY; TRANSMITTER RELEASE; SPECTRUM DISORDERS AB During brain development, each neuron must find and synapse with the correct pre- and postsynaptic partners. The complexity of these connections and the relatively large distances some neurons must send their axons to find the correct partners makes studying brain development one of the most challenging, and yet fascinating disciplines in biology. Furthermore, once the initial connections have been made, the neurons constantly remodel their dendritic and axonal arbours in response to changing demands. 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Neurobiol. PD DEC PY 2011 VL 44 IS 3 BP 426 EP 440 DI 10.1007/s12035-011-8213-1 PG 15 WC Neurosciences SC Neurosciences & Neurology GA 857OH UT WOS:000297727500016 PM 22037798 ER PT J AU Auerbach, BD Osterweil, EK Bear, MF AF Auerbach, Benjamin D. Osterweil, Emily K. Bear, Mark F. TI Mutations causing syndromic autism define an axis of synaptic pathophysiology SO NATURE LA English DT Article ID LONG-TERM DEPRESSION; FRAGILE-X-SYNDROME; HIPPOCAMPAL AREA CA1; TUBEROUS-SCLEROSIS; PROTEIN-SYNTHESIS; MENTAL-RETARDATION; MOUSE MODEL; MAMMALIAN TARGET; RAT HIPPOCAMPUS; MTOR AB Tuberous sclerosis complex and fragile X syndrome are genetic diseases characterized by intellectual disability and autism. Because both syndromes are caused by mutations in genes that regulate protein synthesis in neurons, it has been hypothesized that excessive protein synthesis is one core pathophysiological mechanism of intellectual disability and autism. Using electrophysiological and biochemical assays of neuronal protein synthesis in the hippocampus of Tsc2(+/-) and Fmr1(-/y) mice, here we show that synaptic dysfunction caused by these mutations actually falls at opposite ends of a physiological spectrum. Synaptic, biochemical and cognitive defects in these mutants are corrected by treatments that modulate metabotropic glutamate receptor 5 in opposite directions, and deficits in the mutants disappear when the mice are bred to carry both mutations. Thus, normal synaptic plasticity and cognition occur within an optimal range of metabotropic glutamate-receptor-mediated protein synthesis, and deviations in either direction can lead to shared behavioural impairments. C1 [Auerbach, Benjamin D.; Osterweil, Emily K.; Bear, Mark F.] MIT, Howard Hughes Med Inst, Picower Inst Learning & Memory, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. RP Bear, MF (reprint author), MIT, Howard Hughes Med Inst, Picower Inst Learning & Memory, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. EM mbear@mit.edu FU National Institute of Mental Health [T32 MH-082718, T32-MH-074249]; National Institute of Child Health and Human Development [2R01HD046943]; Department of Defense [W81XWH-11-1-0252]; Simons Foundation FX This work was partly supported by grants from the National Institute of Mental Health (T32 MH-082718 and T32-MH-074249), the National Institute of Child Health and Human Development (2R01HD046943), the Department of Defense (W81XWH-11-1-0252) and The Simons Foundation. We acknowledge A. Heynen for advice and comments, as well as K. Oram, E. Sklar and S. Meagher for technical and administrative assistance. Monoclonal Arc antibody was a gift from P. Worley. 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Portmann, Thomas Voineagu, Irina Yazawa, Masayuki Shcheglovitov, Aleksandr Pasca, Anca M. Cord, Branden Palmer, Theo D. Chikahisa, Sachiko Nishino, Seiji Bernstein, Jonathan A. Hallmayer, Joachim Geschwind, Daniel H. Dolmetsch, Ricardo E. TI Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome SO NATURE MEDICINE LA English DT Article ID AUTISM SPECTRUM DISORDERS; EMBRYONIC STEM-CELLS; DEVELOPING CEREBRAL-CORTEX; GATING MECHANISMS; SYNDROME MUTATION; CALCIUM-CHANNELS; GENE-EXPRESSION; DIFFERENTIATION; INACTIVATION; NEOCORTEX AB Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Ca(v)1.2 that is associated with developmental delay and autism(1). We generated cortical neuronal precursor cells and neurons from induced pluripotent stem cells derived from individuals with Timothy syndrome. Cells from these individuals have defects in calcium (Ca(2+)) signaling and activity-dependent gene expression. They also show abnormalities in differentiation, including decreased expression of genes that are expressed in lower cortical layers and in callosal projection neurons. In addition, neurons derived from individuals with Timothy syndrome show abnormal expression of tyrosine hydroxylase and increased production of norepinephrine and dopamine. This phenotype can be reversed by treatment with roscovitine, a cyclin-dependent kinase inhibitor and atypical L-type-channel blocker(2-4). These findings provide strong evidence that Ca(v)1.2 regulates the differentiation of cortical neurons in humans and offer new insights into the causes of autism in individuals with Timothy syndrome. C1 [Pasca, Sergiu P.; Portmann, Thomas; Yazawa, Masayuki; Shcheglovitov, Aleksandr; Pasca, Anca M.; Dolmetsch, Ricardo E.] Stanford Univ, Sch Med, Dept Neurobiol, Stanford, CA 94305 USA. [Voineagu, Irina; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA. [Voineagu, Irina; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Program Neurogenet, Los Angeles, CA 90095 USA. [Cord, Branden; Palmer, Theo D.] Stanford Sch Med, Stanford Inst Stem Cell Biol & Regenerat Med, Stanford, CA USA. [Cord, Branden; Palmer, Theo D.] Stanford Sch Med, Dept Neurosurg, Stanford, CA USA. [Chikahisa, Sachiko; Nishino, Seiji; Hallmayer, Joachim] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA. [Chikahisa, Sachiko] Univ Tokushima, Grad Sch, Dept Integrat Physiol, Inst Hlth Biosci, Tokushima 770, Japan. [Bernstein, Jonathan A.] Stanford Univ, Dept Pediat, Sch Med, Stanford, CA 94305 USA. RP Dolmetsch, RE (reprint author), Stanford Univ, Sch Med, Dept Neurobiol, Stanford, CA 94305 USA. EM ricardo.dolmetsch@stanford.edu FU US National Institutes of Health; US National Institute of Mental Health; California Institute for Regenerative Medicine; Simons Foundation for Autism Research; Tashia and John Morgridge Endowed Fellowship; Japan Society of the Promotion for Science; American Heart Association; Swiss National Science Foundation; Flora foundation; International Brain Research Organization FX We thank K. Timothy and the individuals with Timothy syndrome who participated in this study; E. Nigh for editing of the manuscript; U. Francke for karyotyping; A. Cherry and D. Bangs for help with fibroblast cultures; G. Panagiotakos and C. Young-Park for insightful discussions, and A. Krawisz, R. Schwemberger, D. Fu and R. Shu for help with data analysis. Antibodies to FORSE-1 were developed by P.H. Patterson and were obtained from the Developmental Studies Hybridoma Bank (University of Iowa). Financial support was provided by a US National Institutes of Health Director's Pioneer Award, and by grants to R.E.D. from the US National Institute of Mental Health, the California Institute for Regenerative Medicine and the Simons Foundation for Autism Research. S.P.P. was supported by awards from the International Brain Research Organization Outstanding Research Fellowship and the Tashia and John Morgridge Endowed Fellowship, M.Y. by a Japan Society of the Promotion for Science Postdoctoral Fellowship for Research Abroad and an American Heart Association Western States postdoctoral fellowship, T. P. by a Swiss National Science Foundation Postdoctoral Fellowship and A.S. by a California Institute for Regenerative Medicine Postdoctoral Fellowship. We are also grateful for funding from B. and F. Horowitz, M. McCafferey, B. and J. Packard, P. Kwan and K. Wang and the Flora foundation. 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VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1097-6256 J9 NAT NEUROSCI JI Nat. Neurosci. PD DEC PY 2011 VL 14 IS 12 BP 1499 EP 1506 DI 10.1038/nn.2924 PG 8 WC Neurosciences SC Neurosciences & Neurology GA 855EJ UT WOS:000297546300006 PM 22037497 ER PT J AU Kobak, KA Stone, WL Wallace, E Warren, Z Swanson, A Robson, K AF Kobak, Kenneth A. Stone, Wendy L. Wallace, Elizabeth Warren, Zachary Swanson, Amy Robson, Kraig TI A Web-Based Tutorial for Parents of Young Children with Autism: Results from a Pilot Study SO TELEMEDICINE AND E-HEALTH LA English DT Article DE distance learning; telehealth; telepsychiatry ID DEPRESSION RATING-SCALE; FACE-TO-FACE; INTERVENTION; VIDEOCONFERENCE; CLINICIAN; SERVICES; INTERNET; MODEL AB Objective: Early intervention can significantly improve long-term outcomes for children with autism. Unfortunately, many children do not receive early intervention services due to a critical shortage of trained professionals in this area. To bridge this gap, we evaluated a Web-based parent training tutorial (Enhancing Interactions), based on evidence-based practices and utilizing the Web-based platform to maximize learning. Methods: Twenty-three parents with a child between 18 months and 6 years with an autism spectrum disorder participated. Pre- and posttest scores of parents' knowledge were used to evaluate tutorial effectiveness. The system usability scale (SUS) evaluated technical user-friendliness and the user satisfaction questionnaire (USQ), gauged satisfaction with content. Results: The mean number of correct items on the posttest significantly increased, from 12.6 to 20.4, p < 0.001. The mean SUS score was 85 (standard deviation = 17), corresponding to a score of "excellent." All participants found the tutorial user friendly, well integrated, and 96% (all but one participant) thought it was easy to use, felt confident using the technical features, and would use a tutorial like this again. On the USQ, all participants found that the tutorial was well organized, clearly presented, and easy to understand; that it increased their knowledge about communicating with their child; and that they felt capable of applying these techniques with their child. Conclusions: The tutorial appears effective in increasing parents' knowledge with high user satisfaction. C1 [Kobak, Kenneth A.; Robson, Kraig] Ctr Psychol Consultat, Madison, WI 53717 USA. [Stone, Wendy L.] Univ Washington, Autism Ctr, Seattle, WA 98195 USA. [Wallace, Elizabeth; Warren, Zachary; Swanson, Amy] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN USA. RP Kobak, KA (reprint author), Ctr Psychol Consultat, 22 N Harwood, Madison, WI 53717 USA. EM kobak@charter.net FU National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services [5R43MH086936-02] FX This project has been funded in whole or in part with Federal funds from the National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, under Grant No. 5R43MH086936-02. 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Piedade, Roberto Ribeiro, Pedro TI Sensorimotor integration and psychopathology: Motor control abnormalities related to psychiatric disorders SO WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY LA English DT Review DE Alzheimer's disease; autism spectrum disorder; sensorimotor integration; squizophrenia; psychopathology ID AUTISM SPECTRUM DISORDERS; MIRROR NEURON DYSFUNCTION; ALZHEIMERS-DISEASE; PREPULSE INHIBITION; SOMATOSENSORY INFORMATION; VISUOMOTOR INTEGRATION; MOVEMENT CONTROL; PREMOTOR CORTEX; GATING DEFICIT; ACTION WORDS AB Objectives. Recent evidence is reviewed to examine relationships among sensorimotor and cognitive aspects in some important psychiatry disorders. This study reviews the theoretical models in the context of sensorimotor integration and the abnormalities reported in the most common psychiatric disorders, such as Alzheimer's disease, autism spectrum disorder and squizophrenia. Methods. The bibliographical search used Pubmed/Medline, ISI Web of Knowledge, Cochrane data base and Scielo databases. The terms chosen for the search were: Alzheimer's disease, AD, autism spectrum disorder, and Squizophrenia in combination with sensorimotor integration. Fifty articles published in English and were selected conducted from 1989 up to 2010. Results. We found that the sensorimotor integration process plays a relevant role in elementary mechanisms involved in occurrence of abnormalities in most common psychiatric disorders, participating in the acquisition of abilities that have as critical factor the coupling of different sensory data which will constitute the basis of elaboration of consciously goal-directed motor outputs. Whether these disorders are associated with an abnormal peripheral sensory input or defective central processing is still unclear, but some studies support a central mechanism. Conclusion. Sensorimotor integration seems to play a significant role in the disturbances of motor control, like deficits in the feedforward mechanism, typically seen in AD, autistic and squizophrenic patients. C1 [Velasques, Bruna; Paes, Flavia] Univ Fed Rio de Janeiro, Inst Psychiat, IPUB, Lab Pan & Respirat, BR-21941 Rio De Janeiro, Brazil. [Ribeiro, Pedro] Univ Fed Rio de Janeiro, EEFD, Dept Biosci, Sch Phys Educ, BR-21941 Rio De Janeiro, Brazil. [Cagy, Mauricio] Univ Fed Fluminense, Inst Hlth Community, Div Epidemiol & Biostat, Rio De Janeiro, Brazil. [Anghinah, Renato; Basile, Luis F.] Univ Sao Paulo, Sch Med, Div Neurosurg, Sao Paulo, Brazil. [Basile, Luis F.] UMESP, Fac Psicol & Fonoaudiol, Psychophysiol Lab, Sao Paulo, Brazil. [Velasques, Bruna; Machado, Sergio; Cunha, Marlo; Ribeiro, Pedro] Inst Appl Neurosci INA, Rio De Janeiro, Brazil. [Budde, Henning] Univ Berlin, Inst Sport Sci, Dept Movement & Training Sci, Berlin, Germany. [Cunha, Marlo] Fed Univ Vale do Sao Francisco UNIVASF, Phys Educ Course, Coll Phys Act Sci, Recife, PE, Brazil. [Paes, Flavia] Brazilian Inst Med & Rehabil IBMR, Fac Psychol, Rio De Janeiro, RJ, Brazil. RP Velasques, B (reprint author), Univ Fed Rio de Janeiro, Inst Psychiat, IPUB, Lab Pan & Respirat, BR-21941 Rio De Janeiro, Brazil. 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Biol. Psychiatry PD DEC PY 2011 VL 12 IS 8 BP 560 EP 573 PG 14 WC Psychiatry SC Psychiatry GA 855TV UT WOS:000297588800002 PM 21428729 ER PT J AU Shadish, WR Sullivan, KJ AF Shadish, William R. Sullivan, Kristynn J. TI Characteristics of single-case designs used to assess intervention effects in 2008 SO BEHAVIOR RESEARCH METHODS LA English DT Article DE Single-case design; Characteristics; Outcome studies ID STATISTICAL-INFERENCE; META-ANALYSIS; CHILDREN; MODEL; RELIABILITY; AUTISM AB This article reports the results of a study that located, digitized, and coded all 809 single-case designs appearing in 113 studies in the year 2008 in 21 journals in a variety of fields in psychology and education. Coded variables included the specific kind of design, number of cases per study, number of outcomes, data points and phases per case, and autocorrelations for each case. Although studies of the effects of interventions are a minority in these journals, within that category, single-case designs are used more frequently than randomized or nonrandomized experiments. The modal study uses a multiple-baseline design with 20 data points for each of three or four cases, where the aim of the intervention is to increase the frequency of a desired behavior; but these characteristics vary widely over studies. The average autocorrelation is near to but significantly different from zero; but autocorrelations are significantly heterogeneous. The results have implications for the contributions of single-case designs to evidence-based practice and suggest a number of future research directions. C1 [Shadish, William R.] Univ Calif, Sch Social Sci Humanities & Arts, Merced, CA 95343 USA. RP Shadish, WR (reprint author), Univ Calif, Sch Social Sci Humanities & Arts, 5200 N Lake Rd, Merced, CA 95343 USA. 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Methods PD DEC PY 2011 VL 43 IS 4 BP 971 EP 980 DI 10.3758/s13428-011-0111-y PG 10 WC Psychology, Mathematical; Psychology, Experimental SC Psychology GA 850BK UT WOS:000297169200008 PM 21656107 ER PT J AU Paul, C Nagano, M Robaire, B AF Paul, Catriona Nagano, Makoto Robaire, Bernard TI Aging Results in Differential Regulation of DNA Repair Pathways in Pachytene Spermatocytes in the Brown Norway Rat SO BIOLOGY OF REPRODUCTION LA English DT Article DE aging; gene expression; oxidative stress; spermatocyte ID NUCLEOTIDE EXCISION-REPAIR; UBIQUITIN-PROTEASOME PATHWAY; MALE AGE; XERODERMA-PIGMENTOSUM; GERM-CELLS; OLD MICE; REPRODUCTIVE-SYSTEM; SPERMATOGENIC CELLS; SEMEN QUALITY; PATERNAL AGE AB The present trend of increasing paternal age is accompanied by concerns for the development of complex multigene diseases (e. g., autism and schizophrenia) in progeny. Recent studies have established strong correlations between male age, increased oxidative stress, decreased sperm quality, and structural aberrations of chromatin and DNA in spermatozoa. We tested the hypothesis that increasing age would result in altered gene expression relating to oxidative stress and DNA damage/repair in germ cells. To test this hypothesis, pachytene spermatocytes and round spermatids were isolated from Brown Norway (BN) rats at 4 (young) and 18 (aged) mo of age. Microarray analysis was used to compare gene expression between the groups. The probe sets with significantly altered expression were linked to DNA damage/repair and oxidative stress in pachytene spermatocytes but not in round spermatids. Further analysis of pachytene spermatocytes demonstrated that genes involved in the base excision repair (BER) and nucleotide excision repair (NER) pathways were specifically altered. Quantitative RT-PCR confirmed that NER genes were upregulated (>1.5-fold), whereas BER genes were downregulated (>1.5-fold). At the protein level the members of the BER pathway were also altered by up to 2.3-fold; levels of NER proteins remained unchanged. Furthermore, there was an increase in 8-oxo-2'-deoxyguanosine (8-oxodG) immunoreactivity in testes from aged males and in the number of spermatozoa positive for 8-oxodG. In conclusion, aging is associated with differential regulation of DNA repair pathways with a decrease in the BER pathway leading to deficient repair of 8-oxo-dG lesions in germ cells and spermatozoa. C1 [Paul, Catriona; Robaire, Bernard] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 1Y6, Canada. [Nagano, Makoto; Robaire, Bernard] McGill Univ, Dept Obstet & Gynecol, Montreal, PQ H3G 1Y6, Canada. RP Robaire, B (reprint author), McGill Univ, Dept Pharmacol & Therapeut, 3655 Promenade Sir William Osler, Montreal, PQ H3G 1Y6, Canada. 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TI Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article DE infantile spasms; autism; bioinformatics; copy number variation; deletion 1p36 syndrome ID AUTISM SPECTRUM DISORDERS; 1P36 DELETION SYNDROME; MOLECULAR CYTOGENETIC CHARACTERIZATION; ALPHA-II-SPECTRIN; MENTAL-RETARDATION; WEST-SYNDROME; POSTSYNAPTIC DENSITY; EPILEPTIC ENCEPHALOPATHY; INTERSTITIAL DELETIONS; RECEPTOR SUBUNITS AB Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development. Second, genes in pathways of synaptic function were overrepresented, significantly those involved in synaptic vesicle transport. Evidence also suggested roles for GABAergic synapses and the postsynaptic density. Third, we confirm the association of ISS with duplication of 14q12 and maternally inherited duplication of 15q11q13, and report the association with duplication of 21q21. We also present a patient with ISS and deletion 7q11.3 not involving MAGI2. Finally, we provide evidence that ISS in deletion 1p36 may be associated with deletion of KLHL17 and expand the epilepsy phenotype in that syndrome to include early infantile epileptic encephalopathy. Several of the identified pathways share functional links, and abnormalities of forebrain synaptic growth and function may form a common biologic mechanism underlying both ISS and autism. This study demonstrates a novel approach to the study of gene content in subjects with ISS and copy number variation, and contributes further evidence to support specific pathways of pathogenesis. European Journal of Human Genetics (2011) 19, 1238-1245; doi: 10.1038/ejhg.2011.121; published online 22 June 2011 C1 [Paciorkowski, Alex R.; Thio, Liu Lin; Gurnett, Christina A.] Washington Univ, Dept Neurol, St Louis, MO USA. [Paciorkowski, Alex R.; Thio, Liu Lin; Gurnett, Christina A.; Kulkarni, Shashikant] Washington Univ, Dept Pediat, St Louis, MO 63130 USA. [Thio, Liu Lin; Gurnett, Christina A.] St Louis Childrens Hosp, Pediat Epilepsy Ctr, St Louis, MO 63178 USA. [Rosenfeld, Jill A.; Shaffer, Lisa G.] Signature Genom Labs, Spokane, WA USA. [Gajecka, Marzena] Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland. [Kulkarni, Shashikant] Washington Univ, Dept Pathol, St Louis, MO 63130 USA. [Kulkarni, Shashikant] Washington Univ, Dept Immunol, St Louis, MO 63130 USA. [Chung, Wendy K.] Columbia Univ, Dept Pediat, New York, NY 10027 USA. [Marsh, Eric D.] Childrens Hosp Philadelphia, Dept Neurol, Philadelphia, PA 19104 USA. [Marsh, Eric D.] Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA. [Gentile, Mattia] ASL BARI & Bellis IRCCS, Med Genet Unit, Castellana Grotte, BA, Italy. [Reggin, James D.] Providence Sacred Heart Med Ctr, Spokane, WA USA. [Reggin, James D.] Childrens Hosp, Spokane, WA USA. [Wheless, James W.] UT Med Grp, Div Pediat Neurol, Memphis, TN USA. [Balasubramanian, Sandhya; Kumar, Ravinesh; Maltsev, Natalia] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA. [Paciorkowski, Alex R.; Christian, Susan L.; Dobyns, William B.] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA. [Marini, Carla; Guerrini, Renzo] Childrens Hosp A Meyer Univ Firenze, Florence, Italy. [Guerrini, Renzo] IRCCS Stella Maris Fdn, Pisa, Italy. [Dobyns, William B.] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA. RP Paciorkowski, AR (reprint author), Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,MS C9S-10, Seattle, WA 98101 USA. EM arpac@u.washington.edu RI Gajecka, Marzena/D-9393-2015 FU National Institutes of Health, NINDS [K12 NS001690-12, R01-NS046616]; Washington University Children's Discovery Institute [MD-F-2010-62]; Ministry of Education and Science, Poland [NN 301238836] FX We wish to thank the families of the subjects who enrolled in this study. The study was supported by grants from the National Institutes of Health including NINDS Neurologic Sciences Academic Development Award K12 NS001690-12 to ARP and R01-NS046616 to WBD; Washington University Children's Discovery Institute, Grant MD-F-2010-62 to ARP; and the Ministry of Education and Science, Poland, Grant NN 301238836 to MG. 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J. Hum. Genet. PD DEC PY 2011 VL 19 IS 12 BP 1238 EP 1245 DI 10.1038/ejhg.2011.121 PG 8 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 851FA UT WOS:000297252600006 PM 21694734 ER PT J AU Liu, XD Malenfant, P Reesor, C Lee, A Hudson, ML Harvard, C Qiao, Y Persico, AM Cohen, IL Chudley, AE Forster-Gibson, C Rajcan-Separovic, E Lewis, MES Holden, JJA AF Liu, Xudong Malenfant, Patrick Reesor, Chelsea Lee, Alana Hudson, Melissa L. Harvard, Chansonette Qiao, Ying Persico, Antonio M. Cohen, Ira L. Chudley, Albert E. Forster-Gibson, Cynthia Rajcan-Separovic, Evica Lewis, M. E. Suzanne Holden, Jeanette J. A. TI 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article DE autism; real-time quantitative PCR; array comparative genomic hybridization; exportin 1 gene; orthodenticle homolog 1 gene ID PERVASIVE DEVELOPMENTAL DISORDERS; PDD BEHAVIOR INVENTORY; CHROMOSOMAL REARRANGEMENTS; DIAGNOSTIC INTERVIEW; GENOME; RISK; ABNORMALITIES; DELETIONS; LINKAGE; COMMON AB Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16.1 suggest that this region harbors a gene(s) important to the development of autism. We molecularly characterized two such deletions, selecting two genes in this region, exportin 1 (XPO1) and orthodenticle homolog 1 (OTX1) for association studies in three North American cohorts (Autism Spectrum Disorder -Canadian American Research Consortium (ASD-CARC), New York, and Autism Genetic Resource Exchange (AGRE)) and one Italian cohort (Societa Italiana per la Ricerca e la Formazione sull'Autismo (SIRFA)) of families with ASD. In XPO1, rs6735330 was associated with autism in all four cohorts (P<0.05), being significant in ASD-CARC cohorts (P-value following false discovery rate correction for multiple testing (P(FDR))=1.29 x 10(-5)), the AGRE cohort (P(FDR)=0.0011) and the combined families (P(FDR)=2.34 x 10(-9)). Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 x 10(-7) and 6.07 x 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 x 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. A significant association (P(FDR)=2.63 x 10(-11)) was found for the rs2018650G-rs13000344C haplotype. The above three SNPs were associated with severity of social interaction and verbal communication deficits and repetitive behaviors (P-values <0.01). No additional deletions were identified following screening of 798 ASD individuals. Our results indicate that deletion 2p15-p16.1 is not commonly associated with idiopathic ASD, but represents a novel contiguous gene syndrome associated with a constellation of phenotypic features (autism, intellectual disability, craniofacial/CNS dysmorphology), and that XPO1 and OXT1 may contribute to ASD in 2p15-p16.1 deletion cases and non-deletion cases of ASD mapping to this chromosome region. European Journal of Human Genetics (2011) 19, 1264-1270; doi: 10.1038/ejhg.2011.112; published online 13 July 2011 C1 [Liu, Xudong; Malenfant, Patrick; Reesor, Chelsea; Lee, Alana; Hudson, Melissa L.; Holden, Jeanette J. A.] Ongwanada Resource Ctr, Autism Res Program, Kingston, ON K7M 8A6, Canada. [Liu, Xudong; Malenfant, Patrick; Reesor, Chelsea; Lee, Alana; Hudson, Melissa L.; Holden, Jeanette J. A.] Ongwanada Resource Ctr, Genet & Genom Res Lab, Kingston, ON K7M 8A6, Canada. [Liu, Xudong; Reesor, Chelsea; Lee, Alana; Hudson, Melissa L.; Holden, Jeanette J. A.] Queens Univ, Dept Psychiat, Kingston, ON K7L 3N6, Canada. [Liu, Xudong; Malenfant, Patrick; Reesor, Chelsea; Lee, Alana; Hudson, Melissa L.; Qiao, Ying; Cohen, Ira L.; Chudley, Albert E.; Forster-Gibson, Cynthia; Rajcan-Separovic, Evica; Lewis, M. E. Suzanne; Holden, Jeanette J. A.] Autism Spectrum Disorders Canadian Amer Res Conso, Kingston, ON, Canada. [Malenfant, Patrick; Holden, Jeanette J. A.] Queens Univ, Dept Physiol, Kingston, ON K7L 3N6, Canada. [Harvard, Chansonette; Qiao, Ying; Rajcan-Separovic, Evica] Univ British Columbia, Dept Pathol, Vancouver, BC, Canada. [Qiao, Ying; Lewis, M. E. Suzanne] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada. [Qiao, Ying; Lewis, M. E. Suzanne] BC Child & Family Res Inst, Vancouver, BC, Canada. [Persico, Antonio M.] Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, Dept Child & Adolescent Psychiat, Rome, Italy. [Persico, Antonio M.] IRCCS Fdn Santa Lucia, Dept Expt Neurosci, Rome, Italy. [Cohen, Ira L.] New York State Inst Basic Res Dev Disabil, Dept Psychol, Staten Isl, NY 10314 USA. [Cohen, Ira L.] New York State Inst Basic Res Dev Disabil, George A Jervis Clin, Staten Isl, NY 10314 USA. [Chudley, Albert E.] Univ Manitoba, Dept Pediat & Child Hlth, WRHA Program Genet & Metab, Winnipeg, MB R3T 2N2, Canada. [Chudley, Albert E.] Univ Manitoba, Dept Biochem, WRHA Program Genet & Metab, Winnipeg, MB, Canada. [Chudley, Albert E.] Univ Manitoba, Dept Med Genet, WRHA Program Genet & Metab, Winnipeg, MB, Canada. [Forster-Gibson, Cynthia] Queens Univ, Dept Family Med, Kingston, ON, Canada. [Holden, Jeanette J. A.] Queens Univ, Ctr Neurosci Studies, Kingston, ON, Canada. RP Holden, JJA (reprint author), Ongwanada Resource Ctr, Autism Res Program, 191 Portsmouth Ave, Kingston, ON K7M 8A6, Canada. EM holdenj@post.queensu.ca FU Ontario Mental Health Foundation (OMHF); CIHR-IHRT [43820]; ASD-CARC; CIHR [RT-64217, MOP 74502]; Michael Smith Foundation for Health Research; New York State Office of Mental Retardation and Developmental Disabilities; SIRFA network; MIUR [2006058195]; Italian Ministry of Health [RFPS-2007-5-640174]; Autism Speaks Foundation FX This work was supported by an Ontario Mental Health Foundation (OMHF) grant (PI: JJAH), a CIHR-IHRT grant (#43820) to JJAH (PI), and ASD-CARC (www.autismresearch.com), a CIHR grant (RT-64217, PI: MESL; MOP 74502, PI: ERS), Michael Smith Foundation for Health Research (MESL and ERS), ongoing support from Ongwanada, an OMHF studentship to PM. PM, CR, YQ, and CH are trainees with the CIHR/NAAR STIHR Inter-Institute ASDs Training Program (PI: JJAH) (www.autismtraining.ca). This research was also supported, in part, by funds from the New York State Office of Mental Retardation and Developmental Disabilities (ILC), whereas the SIRFA network (PI: AMP) is supported by MIUR (PRIN n.2006058195), the Italian Ministry of Health (RFPS-2007-5-640174), and the Autism Speaks Foundation. The authors are very grateful to the families who participated in this research through ASD-CARC (www.autismresearch.com), and acknowledge the resources provided by the AGRE (Autism Genetics Resource Exchange) consortium and the participating AGRE families. AGRE is a program of Cure Autism Now and supported, in part, by grant MH64547 from the NIMH to Daniel H Geschwind (PI). 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J. Hum. Genet. PD DEC PY 2011 VL 19 IS 12 BP 1264 EP 1270 DI 10.1038/ejhg.2011.112 PG 7 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 851FA UT WOS:000297252600009 PM 21750575 ER PT J AU Bruno, DL Stark, Z Amor, DJ Burgess, T Butler, K Corrie, S Francis, D Ganesamoorthy, D Hills, L James, PA O'Rielly, D Oertel, R Savarirayan, R Prabhakara, K Salce, N Slater, HR AF Bruno, Damien L. Stark, Zornitza Amor, David J. Burgess, Trent Butler, Kathy Corrie, Sylvea Francis, David Ganesamoorthy, Devika Hills, Louise James, Paul A. O'Rielly, Darren Oertel, Ralph Savarirayan, Ravi Prabhakara, Krishnamurthy Salce, Nicholas Slater, Howard R. TI Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays SO HUMAN MUTATION LA English DT Article DE SNP microarray; monogenic disorders; autozygosity; intragenic; LCSH ID PITT-HOPKINS-SYNDROME; SJOGREN-LARSSON-SYNDROME; BRCA2 MUTATION CARRIERS; TRANSCRIPTION FACTOR; COHEN-SYNDROME; CANCER; SEQUENCE; RISK; TCF4 AB Microarray analysis has provided significant advances in the diagnosis of conditions resulting from submicroscopic chromosome abnormalities. It has been recommended that array testing should be a first tier test in the evaluation of individuals with intellectual disability, developmental delay, congenital anomalies, and autism. The availability of arrays with increasingly high probe coverage and resolution has increased the detection of decreasingly small copy number changes (CNCs) down to the intragenic or even exon level. Importantly, arrays that genotype SNPs also detect extended regions of homozygosity. We describe 14 examples of single gene disorders caused by intragenic changes from a consecutive set of 6,500 tests using high-resolution SNP microarrays. These cases illustrate the increased scope of cytogenetic testing beyond dominant chromosome rearrangements that typically contain many genes. Nine of the cases confirmed the clinical diagnosis, that is, followed a phenotype to genotype approach. Five were diagnosed by the laboratory analysis in the absence of a specific clinical diagnosis, that is, followed a genotype to phenotype approach. Two were clinically significant, incidental findings. The importance of astute clinical assessment and laboratory-clinician consultation is emphasized to optimize the value of microarrays in the diagnosis of disorders caused by single gene copy number and sequence mutations. 32:15001506, 2011. (C) 2011 Wiley Periodicals, Inc. C1 [Bruno, Damien L.; Burgess, Trent; Butler, Kathy; Corrie, Sylvea; Francis, David; Ganesamoorthy, Devika; Hills, Louise; O'Rielly, Darren; Oertel, Ralph; Prabhakara, Krishnamurthy; Salce, Nicholas; Slater, Howard R.] Royal Childrens Hosp, Murdoch Childrens Res Inst, VCGS Cytogenet Lab, Parkville, Vic 3052, Australia. [Stark, Zornitza; Amor, David J.; James, Paul A.; Savarirayan, Ravi] Royal Childrens Hosp, VCGS, Genet Hlth Serv Victoria, Parkville, Vic 3052, Australia. [Bruno, Damien L.; Amor, David J.; Ganesamoorthy, Devika; Savarirayan, Ravi; Slater, Howard R.] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic 3052, Australia. RP Slater, HR (reprint author), Royal Childrens Hosp, Murdoch Childrens Res Inst, VCGS Pathol, Flemington Rd, Parkville, Vic 3052, Australia. EM howard.slater@ghsv.org.au RI Bruno, Damien/C-3665-2013; James, Paul/G-2943-2014; Ganesamoorthy, Devika/J-8359-2014 OI Ganesamoorthy, Devika/0000-0001-8149-6703 CR Amiel J, 2007, AM J HUM GENET, V80, P988, DOI 10.1086/515582 Bettinelli A, 2005, PEDIATR RES, V58, P1269, DOI 10.1203/01.pdr.0000185267.95466.41 Boone PM, 2010, HUM MUTAT, V31, P1326, DOI 10.1002/humu.21360 Brockschmidt A, 2007, HUM MOL GENET, V16, P1488, DOI 10.1093/hmg/ddm099 Chandler KE, 2003, J MED GENET, V40, P233, DOI 10.1136/jmg.40.4.233 ENGERT S, 2008, HUM MUTAT, V2, P948 Horsman Doug, 2007, J Obstet Gynaecol Can, V29, P45 Manning M, 2010, GENET MED, V12, P742, DOI 10.1097/GIM.0b013e3181f8baad Miller DT, 2010, AM J HUM GENET, V86, P749, DOI 10.1016/j.ajhg.2010.04.006 Mitra A, 2008, BRIT J CANCER, V98, P502, DOI 10.1038/sj.bjc.6604132 Montagna M, 2003, HUM MOL GENET, V12, P1055, DOI 10.1093/hmg/ddg120 Papic L, 2011, EUR J MED GENET, V54, P214, DOI 10.1016/j.ejmg.2010.12.003 Parri V, 2010, EUR J HUM GENET, V18, P1133, DOI 10.1038/ejhg.2010.59 Rizzo WB, 2005, HUM MUTAT, V26, P1, DOI 10.1002/humu.20181 Schwarzbraun T, 2009, J MED GENET, V46, P341, DOI 10.1136/jmg.2008.064972 Sillen A, 1998, HUM MUTAT, V12, P377, DOI 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I Tai YC, 2007, J NATL CANCER I, V99, P1811, DOI 10.1093/jnci/djm203 Taylor PJ, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0008803 Vogt J, 2009, J MED GENET, V46, P338, DOI 10.1136/jmg.2008.065425 Williams EL, 2009, HUM MUTAT, V30, P910, DOI 10.1002/humu.21021 Wolf SM, 2008, J LAW MED ETHICS, V36, P219, DOI 10.1111/j.1748-720X.2008.00266.x Zweier C, 2008, J MED GENET, V45, P738, DOI 10.1136/jmg.2008.060129 NR 22 TC 18 Z9 18 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1059-7794 J9 HUM MUTAT JI Hum. Mutat. PD DEC PY 2011 VL 32 IS 12 BP 1500 EP 1506 DI 10.1002/humu.21581 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA 851CV UT WOS:000297246800022 PM 21850686 ER PT J AU Willemsen, MH Valles, A Kirkels, LAMH Mastebroek, M Loohuis, NO Kos, A Wissink-Lindhout, WM de Brouwer, APM Nillesen, WM Pfundt, R Holder-Espinasse, M Vallee, L Andrieux, J Coppens-Hofman, MC Rensen, H Hamel, BCJ van Bokhoven, H Aschrafi, A Kleefstra, T AF Willemsen, Marjolein H. Valles, Astrid Kirkels, Laurens A. M. H. Mastebroek, Mathilde Loohuis, Nikkie Olde Kos, Aron Wissink-Lindhout, Willemijn M. de Brouwer, Arjan P. M. Nillesen, Willy M. Pfundt, Rolph Holder-Espinasse, Muriel Vallee, Louis Andrieux, Joris Coppens-Hofman, Marjolein C. Rensen, Hanneke Hamel, Ben C. J. van Bokhoven, Hans Aschrafi, Armaz Kleefstra, Tjitske TI Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability SO JOURNAL OF MEDICAL GENETICS LA English DT Article ID LYMPHOBLASTOID CELL-LINES; ADULT-MOUSE FOREBRAIN; MICRORNA EXPRESSION; MENTAL-RETARDATION; MAMMALIAN-CELLS; MESSENGER-RNAS; RETT-SYNDROME; PROTEIN; GENE; TARGETS AB Background MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cognitive functions. Methods and results In three sibs and two unrelated patients with intellectual disability (ID), overlapping 1p21.3 deletions were detected by genome-wide array analysis. The shortest region of overlap included dihydropyrimidine dehydrogenase (DPYD) and microRNA 137 (MIR137). DPYD is involved in autosomal recessive dihydropyrimidine dehydrogenase deficiency. Hemizygous DPYD deletions were previously suggested to contribute to a phenotype with autism spectrum disorder and speech delay. Interestingly, the mature microRNA transcript microRNA-137 (miR-137) was recently shown to be involved in modulating neurogenesis in adult murine neuronal stem cells. Therefore, this study investigated the possible involvement of MIR137 in the 1p21.3-deletion phenotype. The patients displayed a significantly decreased expression of both precursor and mature miR-137 levels, as well as significantly increased expression of the validated downstream targets microphthalmia-associated transcription factor (MITF) and Enhancer of Zeste, Drosophila, Homologue 2 (EZH2), and the newly identified target Kruppel-like factor 4 (KLF4). The study also demonstrated significant enrichment of miR-137 at the synapses of cortical and hippocampal neurons, suggesting a role of miR-137 in regulating local synaptic protein synthesis machinery. Conclusions This study showed that dosage effects of MIR137 are associated with 1p21.3 microdeletions and may therefore contribute to the ID phenotype in patients with deletions harbouring this miRNA. A local effect at the synapse might be responsible. C1 [Willemsen, Marjolein H.; Wissink-Lindhout, Willemijn M.; de Brouwer, Arjan P. M.; Nillesen, Willy M.; Pfundt, Rolph; Rensen, Hanneke; Hamel, Ben C. J.; van Bokhoven, Hans; Kleefstra, Tjitske] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands. [Valles, Astrid] Radboud Univ Nijmegen, Dept Mol Anim Physiol, NL-6525 ED Nijmegen, Netherlands. [Valles, Astrid] Maastricht Univ, Dept Neurocognit, Maastricht, Netherlands. [Kirkels, Laurens A. M. H.; Loohuis, Nikkie Olde; Kos, Aron; van Bokhoven, Hans; Aschrafi, Armaz] Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands. [Mastebroek, Mathilde; Rensen, Hanneke] Pluryn, Support People Disabil, Oosterbeek, Netherlands. [Holder-Espinasse, Muriel] CHRU, Serv Genet Clin, Lille, France. [Vallee, Louis] CHRU, Serv Neuropediat, Lille, France. [Coppens-Hofman, Marjolein C.] Radboud Univ Nijmegen, Dept Med Psychol, NL-6525 ED Nijmegen, Netherlands. RP Kleefstra, T (reprint author), RUNMC, Dept Human Genet 849, PIOB9101, NL-6500 HB Nijmegen, Netherlands. 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Med. Genet. PD DEC PY 2011 VL 48 IS 12 BP 810 EP 818 DI 10.1136/jmedgenet-2011-100294 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA 852AP UT WOS:000297315600003 PM 22003227 ER PT J AU Bruno, DL White, SM Ganesamoorthy, D Burgess, T Butler, K Corrie, S Francis, D Hills, L Prabhakara, K Ngo, C Norris, F Oertel, R Pertile, MD Stark, Z Amor, DJ Slater, HR AF Bruno, D. L. White, S. M. Ganesamoorthy, D. Burgess, T. Butler, K. Corrie, S. Francis, D. Hills, L. Prabhakara, K. Ngo, C. Norris, F. Oertel, R. Pertile, M. D. Stark, Z. Amor, D. J. Slater, H. R. TI Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping SO JOURNAL OF MEDICAL GENETICS LA English DT Article ID LOW-LEVEL MOSAICISM; CHROMOSOMAL MOSAICISM; HUMAN-POPULATIONS; HOMOZYGOSITY; COMPLEX; GENOME; MICROARRAY; DISEASES; RUNS; CGH AB Background Several recent studies have demonstrated the use of single nucleotide polymorphism (SNP) arrays for the investigation of intellectual disability, developmental delay, autism or congenital abnormalities. In addition to LogR 'copy number' data, these arrays provide SNP genotyping data for gene level autozygosity mapping, estimating low levels of mosaicism, assessing long continuous stretches of homozygosity (LCSH), detection of uniparental disomy, and 'autozygous' regions. However, there remains little specific information on the clinical utility of this genotyping data. Methods Molecular karyotyping, using SNP array, was performed on 5000 clinical samples. Results Clinically significant 'LogR neutral' genotyping abnormalities were detected in 0.5% of cases. Among these were a single case of chimerism, 12 cases with low level chromosome mosaicism, and 11 cases with an LCSH associated with uniparental disomy. In addition, the genotyping data revealed several LCSH associated with clinically relevant 'recessive type' genetic defects. Conclusions These results demonstrate the utility of SNP genotyping data for detection of clinically significant abnormalities, including chimerism/mosaicism and recessive Mendelian disorders associated with autozygosity. The incidence of clinically significant low level mosaicism inferred from these cases suggests that this has hitherto been underestimated and chromosome mosaicism frequently occurs in the absence of indicative clinical features. The growing appreciation among clinicians and demand for SNP genotyping data poses significant challenges for the interpretation of LCSH, especially where there is no detailed phenotypic description to direct laboratory analysis. Finally, reporting of unexpected or hidden consanguinity revealed by SNP array analysis raises potential ethical and legal issues. C1 [Bruno, D. L.; White, S. M.; Ganesamoorthy, D.; Burgess, T.; Butler, K.; Corrie, S.; Francis, D.; Hills, L.; Prabhakara, K.; Ngo, C.; Norris, F.; Oertel, R.; Pertile, M. D.; Stark, Z.; Amor, D. J.; Slater, H. R.] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia. [Bruno, D. L.; White, S. M.; Ganesamoorthy, D.; Pertile, M. D.; Amor, D. J.; Slater, H. R.] Univ Melbourne, Dept Paediat, Royal Childrens Hosp, Melbourne, Vic, Australia. RP Bruno, DL (reprint author), Royal Childrens Hosp, Dept Cytogenet, VCGS Pathol, MCRI, Flemington Rd, Parkville, Vic 3052, Australia. 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Med. Genet. PD DEC PY 2011 VL 48 IS 12 BP 831 EP 839 DI 10.1136/jmedgenet-2011-100372 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA 852AP UT WOS:000297315600006 PM 22039585 ER PT J AU Matthews, RA Booth, SM Taylor, CF Martin, T AF Matthews, Russell A. Booth, Suzanne M. Taylor, Claire F. Martin, Tracy TI A qualitative examination of the work-family interface: Parents of children with autism spectrum disorder SO JOURNAL OF VOCATIONAL BEHAVIOR LA English DT Article DE Work-family conflict; Work-family enhancement; Autism spectrum disorder; Family friendly policies; Telework; Boundary theory ID DISABILITIES MONITORING NETWORK; OFF-JOB TIME; DEVELOPMENTAL-DISABILITIES; SOCIAL SUPPORT; MENTAL-HEALTH; ORGANIZATIONAL PERCEPTIONS; PSYCHOLOGICAL DETACHMENT; BEHAVIOR PROBLEMS; UNITED-STATES; ROLE STRESS AB Within the work-family literature little is known about the work-family challenges and opportunities faced by families that have one or more children with autism spectrum disorder. However, it has been consistently demonstrated that parents of children with autism spectrum disorder are at a higher risk of experiencing a host of negative outcomes. Using a qualitative design, within grounded theory, the present study sheds light on the needs, experiences, and challenges that parents of children with autism spectrum disorder face and also offers insight into ways to expand the scope of work-family research in this area. The present research provides evidence of how the family domain can greatly impact experiences and decisions made in the work domain for families with special needs. The present research adds to the small but growing literature examining the interplay between home and work life for families with special needs and demonstrates that this is an important research domain in need of additional conceptual and empirical consideration. (C) 2011 Elsevier Inc. All rights reserved. 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PD DEC PY 2011 VL 79 IS 3 SI SI BP 625 EP 639 DI 10.1016/j.jvb.2011.04.010 PG 15 WC Psychology, Applied SC Psychology GA 852WQ UT WOS:000297388600003 ER PT J AU Mouridsen, SE Hauschild, KM AF Mouridsen, Svend Erik Hauschild, Karen-Marie TI Autism spectrum disorders in siblings of children with a developmental language disorder SO LOGOPEDICS PHONIATRICS VOCOLOGY LA English DT Article DE Autism spectrum disorder; developmental language disorder; siblings ID IMPAIRMENT; INDIVIDUALS AB Little is known about the familial characteristics of children diagnosed during childhood as having a developmental language disorder (DLD). This study aimed to investigate the prevalence of autism spectrum disorders (ASD) in siblings of probands diagnosed during childhood as having a DLD. In order to estimate the prevalence of ASD, 908 siblings of 469 probands diagnosed during childhood as having a DLD, and 3,802 siblings of 2,345 controls from the general population, without a known history of DLD, were screened for ASD through the nationwide Danish Psychiatric Central Register (DPCR). The mean length of observation was 35.2 years and 34.8 years, respectively, and the mean age at follow-up 38.4 years and 37.4 years, respectively. At follow-up one sibling (0.1%) in the DLD case group and eight siblings (0.2%) in the comparison group were known in the DPCR with a diagnosis of any ASD (P = 0.53; OR = 0.52; 95% CI 0.07-4.19). Thus our results provide no support for a familial association between DLD and ASD. C1 [Mouridsen, Svend Erik] Bispebjerg Hosp, Dept Child & Adolescent Psychiat, DK-2400 Copenhagen, Denmark. [Hauschild, Karen-Marie] Speech & Hearing Inst, Copenhagen, Denmark. RP Mouridsen, SE (reprint author), Bispebjerg Hosp, Dept Child & Adolescent Psychiat, DK-2400 Copenhagen, Denmark. EM Svend.Erik.Mouridsen@regionh.dk FU Aase and Ejnar Danielsen's Fund; Rosalie Petersen's Fund FX We are grateful to Aase and Ejnar Danielsen's Fund and Rosalie Petersen's Fund for financial support. 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Phoniatr. Vocology. PD DEC PY 2011 VL 36 IS 4 BP 145 EP 149 DI 10.3109/14015439.2011.566575 PG 5 WC Audiology & Speech-Language Pathology; Otorhinolaryngology SC Audiology & Speech-Language Pathology; Otorhinolaryngology GA 852JP UT WOS:000297354200002 PM 21446849 ER PT J AU Hultman, CM Sandin, S Levine, SZ Lichtenstein, P Reichenberg, A AF Hultman, C. M. Sandin, S. Levine, S. Z. Lichtenstein, P. Reichenberg, A. TI Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies SO MOLECULAR PSYCHIATRY LA English DT Article DE autism; epidemiology; paternal age; perinatal ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PERINATAL FACTORS; INFANTILE-AUTISM; BIRTH; PREVALENCE; PHENOTYPE; MUTATION; MICE; TWIN AB Advanced paternal age has been suggested as a risk factor for autism, but empirical evidence is mixed. This study examines whether the association between paternal age and autism in the offspring (1) persists controlling for documented autism risk factors, including family psychiatric history, perinatal conditions, infant characteristics and demographic variables; (2) may be explained by familial traits associated with the autism phenotype, or confounding by parity; and (3) is consistent across epidemiological studies. Multiple study methods were adopted. First, a Swedish 10-year birth cohort (N= 1 075 588) was established. Linkage to the National Patient Register ascertained all autism cases (N= 883). Second, 660 families identified within the birth cohort had siblings discordant for autism. Finally, meta-analysis included population-based epidemiological studies. In the birth cohort, autism risk increased monotonically with increasing paternal age. Offspring of men aged >= 50 years were 2.2 times (95% confidence interval: 1.26-3.88: P = 0.006) more likely to have autism than offspring of men aged <= 29 years, after controlling for maternal age and documented risk factors for autism. Within-family analysis of discordant siblings showed that affected siblings had older paternal age, adjusting for maternal age and parity (P < 0.0001). Meta-analysis demonstrated advancing paternal age association with increased risk of autism across studies. These findings provide the strongest evidence to date that advanced paternal age is a risk factor for autism in the offspring. Possible biological mechanisms include de novo aberration and mutations or epigenetic alterations associated with aging. Molecular Psychiatry (2011) 16, 1203-1212; doi:10.1038/mp.2010.121; published online 30 November 2010 C1 [Reichenberg, A.] Kings Coll London, Inst Psychiat, Dept Psychosis Studies, London SE5 8AF, England. [Hultman, C. 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Psychiatr. PD DEC PY 2011 VL 16 IS 12 BP 1203 EP 1212 DI 10.1038/mp.2010.121 PG 10 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA 852FM UT WOS:000297340900006 PM 21116277 ER PT J AU Schwarz, E Guest, PC Rahmoune, H Wang, L Levin, Y Ingudomnukul, E Ruta, L Kent, L Spain, M Baron-Cohen, S Bahn, S AF Schwarz, E. Guest, P. C. Rahmoune, H. Wang, L. Levin, Y. Ingudomnukul, E. Ruta, L. Kent, L. Spain, M. Baron-Cohen, S. Bahn, S. TI Sex-specific serum biomarker patterns in adults with Asperger's syndrome SO MOLECULAR PSYCHIATRY LA English DT Article DE Asperger's syndrome; serum; gender; sexual dimorphism; profiling; biomarker ID AUTISM-SPECTRUM QUOTIENT; FETAL TESTOSTERONE; SYSTEMATIZING QUOTIENT; AQ; DISORDERS; GROWTH; CHILDREN; EMPATHY; BRAIN; HYPERANDROGENISM AB Autism spectrum conditions have been hypothesized to be an exaggeration of normal male low-empathizing and high-systemizing behaviors. We tested this hypothesis at the molecular level by performing comprehensive multi-analyte profiling of blood serum from adult subjects with Asperger's syndrome (AS) compared with controls. This led to identification of distinct sex-specific biomarker fingerprints for male and female subjects. Males with AS showed altered levels of 24 biomarkers including increased levels of cytokines and other inflammatory molecules. Multivariate statistical classification of males using this panel of 24 biomarkers revealed a marked separation between AS and controls with a sensitivity of 0.86 and specificity of 0.88. Testing this same panel in females did not result in a separation between the AS and control groups. In contrast, AS females showed altered levels of 17 biomarkers including growth factors and hormones such as androgens, growth hormone and insulin-related molecules. Classification of females using this biomarker panel resulted in a separation between AS and controls with sensitivities and specificities of 0.96 and 0.83, respectively, and testing this same panel in the male group did not result in a separation between the AS and control groups. The finding of elevated testosterone in AS females confirmed predictions from the 'extreme male brain' and androgen theories of autism spectrum conditions. We conclude that to understand the etiology and development of autism spectrum conditions, stratification by sex is essential. Molecular Psychiatry (2011) 16, 1213-1220; doi:10.1038/mp.2010.102; published online 28 September 2010 C1 [Ingudomnukul, E.; Ruta, L.; Kent, L.; Baron-Cohen, S.] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England. [Schwarz, E.; Guest, P. C.; Rahmoune, H.; Wang, L.; Levin, Y.; Bahn, S.] Univ Cambridge, Inst Biotechnol, Cambridge CB2 8AH, England. 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Psychiatr. PD DEC PY 2011 VL 16 IS 12 BP 1213 EP 1220 DI 10.1038/mp.2010.102 PG 8 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA 852FM UT WOS:000297340900007 PM 20877284 ER PT J AU Leehey, MA Legg, W Tassone, F Hagerman, R AF Leehey, Maureen A. Legg, Wendi Tassone, Flora Hagerman, Randi TI Fibromyalgia in fragile X mental retardation 1 gene premutation carriers SO RHEUMATOLOGY LA English DT Article DE Fibromyalgia; Fragile X-associated tremor ataxia syndrome; Fragile X mental retardation 1 gene; Genetic counselling ID FRAGILE-X-SYNDROME; FMR1 PREMUTATION; TREMOR/ATAXIA SYNDROME; INDIVIDUALS AB Methods. A sample of patients was selected that participated in studies at two tertiary referral academic centres on the phenotype and therapy of FXTAS. Results. This selected sample of patients, five female premutation carriers, has FM symptoms or diagnoses and other central sensitivity syndromes. Conclusion. Since FM affects 2-4% of the world's population and about 1 in 250 females are FMR1 carriers, a study screening females with FM for the presence of the FMR1 premutation is worthwhile. A finding of increased prevalence of FMR1 carriers among females with FM would impact the standard evaluation of FM. Presently, guidelines for FMR1 genetic testing includes early menopause, congenital intellectual disability, autism spectrum disorder, tremor or ataxia, and a family history of FXTAS or fragile X syndrome. The latter is a common cause of autism and developmental delay. Such testing is important because female carriers are at risk of having a child with fragile X syndrome. C1 [Leehey, Maureen A.; Legg, Wendi] Univ Colorado, Dept Neurol, Denver, CO 80202 USA. [Tassone, Flora] Univ Calif Davis, Dept Biochem & Mol Med, Sch Med, Davis, CA 95616 USA. [Tassone, Flora] Univ Calif Davis, MIND Inst, Med Ctr, Davis, CA 95616 USA. [Hagerman, Randi] Univ Calif Davis, Sch Med, Dept Pediat, Davis, CA 95616 USA. [Hagerman, Randi] Univ Calif Davis, MIND Inst, Sch Med, Davis, CA 95616 USA. RP Leehey, MA (reprint author), 12631 E 17th Ave,Box B185,Anschutz Med Campus,Bld, Aurora, CO 80045 USA. EM maureen.leehey@ucdenver.edu FU NICHD [HD02274, HD055510]; NIA [AG032119, UL1 RR024146]; Administration for Developmental Disabilities [90DD05969]; Novartis; Roche; Seaside Therapeutics; Curemark; Forest; [RL1AG032115]; [UL1 DE019583]; [HD036071] FX Funding: RL1AG032115, UL1 DE019583 and HD036071 to R. H. Additional Financial support was from NICHD # HD02274, HD055510, NIA #AG032119, UL1 RR024146 and the Administration for Developmental Disabilities 90DD05969.Disclosure statement: R.H. has received grant support from Novartis, Roche, Seaside Therapeutics, Curemark and Forest for treatment studies in fragile X syndrome and autism treatment. All other authors have declared no conflicts of interest. CR Allen EG, 2004, HUM GENET, V114, P439, DOI 10.1007/s00439-004-1086-x Arnold LM, 2004, ARTHRITIS RHEUM, V50, P944, DOI 10.1002/art.20042 Buskila D, 2009, ARTHRITIS RES THER, V11, DOI 10.1186/ar2720 Coffey SM, 2008, AM J MED GENET A, V146A, P1009, DOI 10.1002/ajmg.a.32060 Garcia-Alegria E, 2007, RNA, V13, P756, DOI 10.1261/rna.206307 Garcia-Arocena D., HUM MOL GENET, V19, pR83 Hagerman PJ, 2008, J MED GENET, V45, P498, DOI 10.1136/jmg.2008.059055 Hunter JE, 2010, CLIN GENET, V77, P374, DOI 10.1111/j.1399-0004.2009.01317.x Jacquemont S, 2003, AM J HUM GENET, V72, P869, DOI 10.1086/374321 Leehey MA, 2002, MOVEMENT DISORD, V17, P744, DOI 10.1002/mds.10208 Mehta A, 2004, EUR J CLIN INVEST, V34, P236, DOI 10.1111/j.1365-2362.2004.01309.x Rodriguez-Revenga L, 2009, EUR J HUM GENET, V17, P1359, DOI 10.1038/ejhg.2009.51 Ross-Inta C, 2010, BIOCHEM J, V429, P545, DOI 10.1042/BJ20091960 SCHWARTZ CE, 1994, AM J MED GENET, V51, P400, DOI 10.1002/ajmg.1320510419 Tassone F, 2000, AM J MED GENET, V97, P195, DOI 10.1002/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R Tassone F, 2000, AM J HUM GENET, V66, P6, DOI 10.1086/302720 Tassone F, 2008, J MOL DIAGN, V10, P43, DOI 10.2353/jmoldx.2008.070073 WOLFE F, 2008, KELLEYS TXB RHEUMATO Yunus MB, 2007, SEMIN ARTHRITIS RHEU, V36, P339, DOI 10.1016/j.semarthrit.2006.12.009 NR 19 TC 14 Z9 15 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1462-0324 J9 RHEUMATOLOGY JI RHEUMATOLOGY PD DEC PY 2011 VL 50 IS 12 BP 2233 EP 2236 DI 10.1093/rheumatology/ker273 PG 4 WC Rheumatology SC Rheumatology GA 852OX UT WOS:000297368400013 PM 21926154 ER PT J AU Carey, JC AF Carey, John C. TI Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Editorial Material C1 [Carey, John C.] Univ Utah, Salt Lake City, UT USA. RP Carey, JC (reprint author), Amer Journal Med Genet, 419 Wakara Way,Suite 213, Salt Lake City, UT 84108 USA. EM john.carey@hsc.utah.edu CR Chiurazzi P, 2011, AM J MED GENET A, V155A, P974, DOI 10.1002/ajmg.a.33950 COHEN MMC, 2011, AM J MED GENET A FISCH G, 2011, AM J MED GENET A Moeschler JB, 2011, AM J MED GENET A, V155A, P972, DOI 10.1002/ajmg.a.33830 NR 4 TC 1 Z9 1 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1552-4825 J9 AM J MED GENET A JI Am. J. Med. Genet. A PD DEC PY 2011 VL 155A IS 12 BP 2905 EP 2905 DI 10.1002/ajmg.a.34319 PG 1 WC Genetics & Heredity SC Genetics & Heredity GA 850NA UT WOS:000297200300001 PM 21972125 ER PT J AU Cohen, MM AF Cohen, M. Michael, Jr. TI ASD is an incorrect abbreviation for autism spectrum disorders SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Editorial Material C1 Dalhousie Univ, Dept Pediat, Halifax, NS, Canada. RP Cohen, MM (reprint author), Dalhousie Univ, Dept Pediat, Halifax, NS, Canada. EM mmichael.cohenjr@gmail.com CR Cohen MM, 2010, AM J MED GENET A, V152A, P1875, DOI 10.1002/ajmg.a.32909 Cohen MM, 2003, AM J MED GENET A, V123A, P5, DOI 10.1002/ajmg.a.20495 NR 2 TC 1 Z9 1 PU WILEY-BLACKWELL PI MALDEN PA COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA SN 1552-4825 J9 AM J MED GENET A JI Am. J. Med. Genet. A PD DEC PY 2011 VL 155A IS 12 BP 2906 EP 2906 DI 10.1002/ajmg.a.34000 PG 1 WC Genetics & Heredity SC Genetics & Heredity GA 850NA UT WOS:000297200300002 PM 21538839 ER PT J AU Whalley, HC O'Connell, G Sussmann, JE Peel, A Stanfield, AC Hayiou-Thomas, ME Johnstone, EC Lawrie, SM McIntosh, AM Hall, J AF Whalley, Heather C. O'Connell, Garret Sussmann, Jessika E. Peel, Anna Stanfield, Andrew C. Hayiou-Thomas, Marianna E. Johnstone, Eve C. Lawrie, Stephen M. McIntosh, Andrew M. Hall, Jeremy TI Genetic Variation in CNTNAP2 Alters Brain Function During Linguistic Processing in Healthy Individuals SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS LA English DT Article DE CNTNAP2; language; fmri; autism ID AUTISM SPECTRUM DISORDERS; LANGUAGE-ASSOCIATION CORTEX; SCHIZOPHRENIA; ASYMMETRY; LATERALIZATION; RISK; CONTACTIN-ASSOCIATED-PROTEIN-LIKE-2; METAANALYSIS; EPILEPSY; LINKAGE AB Language impairments are a characteristic feature of autism and related autism spectrum disorders (ASDs). Autism is also highly heritable and one of the most promising candidate genes implicated in its pathogenesis is contactin-associated protein-like 2 (CNTNAP2), a gene also associated with language impairment. In the current study we investigated the functional effects of variants of CNTNAP2 associated with autism and language impairment (rs7794745 and rs2710102; presumed risk alleles T and C, respectively) in healthy individuals using functional magnetic resonance imaging (fMRI) during performance of a language task (n = 66). Against a background of normal performance and lack of behavioral abnormalities, healthy individuals with the putative risk allele versus those without demonstrated significant increases in activation in the right inferior frontal gyrus (Broca's area homologue) and right lateral temporal cortex. These findings demonstrate that risk associated variation in the CNTNAP2 gene impacts on brain activation in healthy non-autistic individuals during a language processing task providing evidence of the effect of genetic variation in CNTNAP2 on a core feature of ASDs. (C) 2011 Wiley Periodicals, Inc. C1 [Whalley, Heather C.; O'Connell, Garret; Sussmann, Jessika E.; Peel, Anna; Stanfield, Andrew C.; Johnstone, Eve C.; Lawrie, Stephen M.; McIntosh, Andrew M.; Hall, Jeremy] Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Edinburgh EH10 5HT, Midlothian, Scotland. [Hayiou-Thomas, Marianna E.] Univ York, Dept Psychol, York YO10 5DD, N Yorkshire, England. RP Whalley, HC (reprint author), Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Kennedy Tower,Morningside Pk, Edinburgh EH10 5HT, Midlothian, Scotland. EM hwhalley@staffmail.ed.ac.uk RI McIntosh, Andrew/B-9379-2008 OI McIntosh, Andrew/0000-0002-0198-4588 FU SINAPSE (Scottish Imaging Network); National Health Service (NHS) Research Scotland, through the Scottish Mental Health Research Network; Royal Society [DH080018]; Health Foundation [2268/4295]; Wellcome Trust [087727/Z/08/Z]; Scottish Senior Clinical Fellowship; Pfizer FX We would like to thank all of the participants who took part in the study and the radiographers who acquired the MRI scans. This study was conducted at the Scottish Brain Imaging Research Centre which is supported by SINAPSE (Scottish Imaging Network, a Platform for Scientific Excellence, www.sinapse.ac.uk). The Division of Psychiatry of the University of Edinburgh also acknowledges the financial support of National Health Service (NHS) Research Scotland, through the Scottish Mental Health Research Network (www.smhrn.org.uk) who provided assistance with subject recruitment and cognitive assessments. H.C.W. is supported by a Dorothy Hodgkin Fellowship from the Royal Society (DH080018). A.M.M. is currently supported by the Health Foundation through a Clinician Scientist Fellowship (Ref: 2268/4295). J.E.S. is supported by a Clinical Research Training Fellowship from the Wellcome Trust (087727/Z/08/Z). J.H. is supported by a Scottish Senior Clinical Fellowship. A.M.M., J.H., H.C.W., and S.M.L. have previously received financial support from Pfizer (formerly Wyeth) in relation to imaging studies of people with schizophrenia and bipolar disorder. 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Train. Autism Dev. Disabil. PD DEC PY 2011 VL 46 IS 4 BP 479 EP 498 PG 20 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 850WN UT WOS:000297230400001 ER PT J AU Taber-Doughty, T Bouck, EC Tom, K Jasper, AD Flanagan, SM Bassette, L AF Taber-Doughty, Teresa Bouck, Emily C. Tom, Kinsey Jasper, Andrea D. Flanagan, Sara M. Bassette, Laura TI Video Modeling and Prompting: A Comparison of Two Strategies for Teaching Cooking Skills to Students with Mild Intellectual Disabilities SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID DAILY LIVING SKILLS; MENTAL-RETARDATION; DEVELOPMENTAL-DISABILITIES; SECONDARY STUDENTS; SPECIAL-EDUCATION; LEARNING-DISABILITIES; CHILDREN; AUTISM; INSTRUCTION; ADULTS AB Self-operated video prompting and video modeling was compared when used by three secondary students with mild intellectual disabilities as they completed novel recipes during cooking activities. Alternating between video systems, students completed twelve recipes within their class-room kitchen. An alternating treatment design with a pillow-up and withdrawal probe was used to illustrate the effectiveness of both systems on each student's independent task performance. Results indicated increased independence following video system use by all three students with video modeling more effective for two students and video prompting more effective for the third. Future directions for research are presented. C1 [Taber-Doughty, Teresa; Bouck, Emily C.; Tom, Kinsey; Jasper, Andrea D.; Flanagan, Sara M.; Bassette, Laura] Purdue Univ, W Lafayette, IN 47907 USA. RP Taber-Doughty, T (reprint author), Purdue Univ, 5162 BRNG Hall,100 N Univ St, W Lafayette, IN 47907 USA. 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E., 1996, TEACHING STUDENTS ME Van Laarhoven T, 2006, EDUC TRAIN DEV DISAB, V41, P365 Wert BY, 2003, J POSIT BEHAV INTERV, V5, P30, DOI 10.1177/10983007030050010501 Zeaman D., 1979, HDB MENTAL DEFICIENC, P63 Zeaman D., 1963, HDB MENTAL DEFICIENC, P159 NR 76 TC 7 Z9 7 PU COUNCIL EXCEPTIONAL CHILDREN PI ARLINGTON PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA SN 2154-1647 J9 EDUC TRAIN AUTISM DE JI Educ. Train. Autism Dev. Disabil. PD DEC PY 2011 VL 46 IS 4 BP 499 EP 513 PG 15 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 850WN UT WOS:000297230400002 ER PT J AU Banda, DR Dogoe, MS Matuszny, RM AF Banda, Devender R. Dogoe, Maud S. Matuszny, Rose Marie TI Review of Video Prompting Studies with Persons with Developmental Disabilities SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Review ID MODERATE INTELLECTUAL DISABILITIES; AUTISM SPECTRUM DISORDERS; DAILY LIVING SKILLS; OF-THE-LITERATURE; MODELING INTERVENTIONS; COOKING SKILLS; CHILDREN; INDIVIDUALS; INSTRUCTION; STUDENTS AB We reviewed 18 video prompting studies that were conducted with persons with developmental disabilities. Results across the studies indicate that video prompting is a viable method for improving various domestic, vocational, and independent living skills. In addition, video prompting strategies facilitated maintenance and generalization of learned skills. Also, in several studies when teaching various skills, video promptings strategies were more effective than static pictures or video models alone. We discuss the results and make suggestions for future researchers and practitioners. C1 [Banda, Devender R.] Texas Tech Univ, Coll Educ, Dept Educ Psychol & Leadership, Lubbock, TX 79409 USA. [Dogoe, Maud S.] St Cloud State Univ, St Cloud, MN USA. [Matuszny, Rose Marie] Appalachian State Univ, Boone, NC 28608 USA. RP Banda, DR (reprint author), Texas Tech Univ, Coll Educ, Dept Educ Psychol & Leadership, POB 41071, Lubbock, TX 79409 USA. EM devender.banda@ttu.edu CR Ayres KM, 2005, EDUC TRAIN DEV DISAB, V40, P183 Baker S. D., 2009, ED TREATMENT CHILDRE, V32, P403, DOI DOI 10.1353/ETC.0.0065 Bellini S, 2007, EXCEPT CHILDREN, V73, P264 Bryan LC, 2000, J AUTISM DEV DISORD, V30, P553, DOI 10.1023/A:1005687310346 Cannella-Malone H, 2006, EDUC TRAIN DEV DISAB, V41, P344 Cihak D., 2006, FOCUS AUTISM OTHER D, V21, P89, DOI DOI 10.1177/10883576060210020601 Collins B. C., 2007, MODERATE SEVERE DISA Cooper J. O., 2007, APPL BEHAV ANAL Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401 Dogoe M, 2009, EDUC TRAIN DEV DISAB, V44, P177 Giangreco M. 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PD DEC PY 2011 VL 46 IS 4 BP 514 EP 527 PG 14 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 850WN UT WOS:000297230400003 ER PT J AU Waugh, RE Alberto, PA Fredrick, LD AF Waugh, Rebecca E. Alberto, Paul A. Fredrick, Laura D. TI Simultaneous Prompting: An Instructional Strategy for Skill Acquisition SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID DEVELOPMENTAL-DISABILITIES; MENTAL-RETARDATION; COGNITIVE IMPAIRMENT; SCHOOL-STUDENTS; TEACH; CHILDREN; INDIVIDUALS; FEEDBACK; AUTISM; ADULTS AB Errorless learning is an instructional approach designed to eliminate and/or reduce the number of errors students produce in traditional trial-and-error approaches (Mueller, Palkovic, & Maynard, 2007). Various response prompting strategies are employed to produce errorless learning. Simultaneous prompting is an errorless learning strategy that has a growing body of literature to support its use spanning two decades. This paper provides a comprehensive review of the literature including (a) skills targeted for instruction, (b) populations targeted for instruction, (c) strengths and weaknesses of simultaneous prompting, and (d) future areas of research. C1 [Waugh, Rebecca E.] Georgia State Univ, Dept Educ Psychol & Special Educ, Atlanta, GA 30302 USA. RP Waugh, RE (reprint author), Georgia State Univ, Dept Educ Psychol & Special Educ, POB 3979, Atlanta, GA 30302 USA. EM rwaugh1@gsu.edu CR Akmanoglu N, 2004, EDUC TRAIN DEV DISAB, V39, P326 Akmanoglu-Uludag N, 2005, EDUC TRAIN DEV DISAB, V40, P401 Alberto PA, 2010, RES DEV DISABIL, V31, P1467, DOI 10.1016/j.ridd.2010.06.011 Batu S, 2008, EDUC TRAIN DEV DISAB, V43, P541 Birkan B, 2005, EDUC TRAIN DEV DISAB, V40, P68 Colozzi GA, 2008, EDUC TRAIN DEV DISAB, V43, P226 Cooper J. 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Train. Autism Dev. Disabil. PD DEC PY 2011 VL 46 IS 4 BP 528 EP 543 PG 16 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 850WN UT WOS:000297230400004 ER PT J AU Tullis, CA Cannella-Malone, HI Basbigill, AR Yeager, A Fleming, CV Payne, D Wu, PF AF Tullis, Christopher A. Cannella-Malone, Helen I. Basbigill, Abby R. Yeager, Amanda Fleming, Courtney V. Payne, Daniel Wu, Pei-Fang TI Review of the Choice and Preference Assessment Literature for Individuals with Severe to Profound Disabilities SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Review ID DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITIES; NEGATIVE REINFORCEMENT; ASSESSMENT PROTOCOL; SUPPORTED WORKERS; ANGELMAN-SYNDROME; TASK PREFERENCES; BRAIN-INJURY; PEOPLE; AUTISM AB Since 2002, the body of literature examining choice interventions and preference assessments for individuals with severe to profound disabilities has grown substantially. This paper is an extension of the Lancioni, O'Reilly, & Emerson (1996) and Cannella, O'Reilly, & Lancioni (2005) papers and reviews 50 studies conducted between 2002 and 2010 that were divided into five categories: (a) effectiveness of various preference assessment formats and methodologies, (b) comparisons of specific components of preference assessments, (c) underlying mechanisms of preference, (d) effects of choice on behavior, and (e) staff and participant training. Findings from these studies support previous research findings in that choice was an effective intervention for changing behavior, reinforcers were identified for individuals with severe to profound disabilities using preference assessments, and participants were taught to make, and staff were trained to provide, choices. Other major findings highlight some mechanisms that underlie preference and provide insight into some nuances of the various preference assessment methodologies. The findings are discussed in terms of their implications on practice related to individuals with severe to profound disabilities and suggestions for future research are provided. C1 [Tullis, Christopher A.; Cannella-Malone, Helen I.; Basbigill, Abby R.; Yeager, Amanda; Fleming, Courtney V.; Payne, Daniel; Wu, Pei-Fang] Ohio State Univ, Columbus, OH 43210 USA. RP Cannella-Malone, HI (reprint author), A348 PAES Bldg,305 W 17th Ave, Columbus, OH 43210 USA. 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Train. Autism Dev. Disabil. PD DEC PY 2011 VL 46 IS 4 BP 576 EP 595 PG 20 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 850WN UT WOS:000297230400008 ER PT J AU Ganz, JB Flores, MM Lashley, EE AF Ganz, Jennifer B. Flores, Margaret M. Lashley, Erin E. TI Effects of a Treatment Package on Imitated and Spontaneous Verbal Requests in Children with Autism SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID NONCONTINGENT REINFORCEMENT; BEHAVIOR; ESCAPE; PLAY; ACQUISITION; EXTINCTION AB Students with autism spectrum disorders (ASD) have difficulties with verbal language. Many interventions to remediate such deficits require numerous materials and significant teacher time. This study sought to determine if a simple multi-component intervention that incorporated noncontingent reinforcement (NCR) and verbal modeling would result in increased spontaneous verbal requesting in two preschool boys with autism. Results indicated that the participants did increase use of spontaneous and imitated verbal requests. Implications are discussed. C1 [Ganz, Jennifer B.] Texas A&M Univ, Dept Educ Psychol, College Stn, TX 77843 USA. [Flores, Margaret M.] Auburn Univ, Auburn, AL 36849 USA. [Lashley, Erin E.] Northside Independent Sch Dist, San Antonio, TX USA. RP Ganz, JB (reprint author), Texas A&M Univ, Dept Educ Psychol, 4225 TAMU, College Stn, TX 77843 USA. EM jeniganz@tamu.edu CR (APA) APA, 2000, DIAGN STAT MAN MENT Butler LR, 2007, J POSIT BEHAV INTERV, V9, P195, DOI 10.1177/10983007070090040201 Carpenter M., 2000, AUTISM SPECTRUM DISO, P31 Carr JE, 2002, RES DEV DISABIL, V23, P37, DOI 10.1016/S0891-4222(01)00090-7 CHARLOP MH, 1983, J ABNORM CHILD PSYCH, V11, P355, DOI 10.1007/BF00914244 Charlop-Christy M. 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P., 2001, ED CHILDREN AUTISM Mildon RL, 2004, J POSIT BEHAV INTERV, V6, P92, DOI 10.1177/10983007040060020401 Mobayed K., 2000, J EARLY INTERVENTION, V23, P165, DOI DOI 10.1177/10538151000230030601 Ogletree B, 2008, ED CHILDREN YOUTH AU, P223 Parker RI, 2009, EXCEPT CHILDREN, V75, P135 Roscoe EM, 1998, J APPL BEHAV ANAL, V31, P635, DOI 10.1901/jaba.1998.31-635 Ross DE, 2003, RES DEV DISABIL, V24, P58, DOI 10.1016/S0891-4222(02)00167-1 Schopler E., 1988, CHILDHOOD AUTISM RAT Stahmer AC, 2003, AUTISM, V7, P401, DOI 10.1177/1362361303007004006 TRYON AS, 1986, J ABNORM CHILD PSYCH, V14, P537, DOI 10.1007/BF01260522 Tucker M, 1998, BEHAV MODIF, V22, P529, DOI 10.1177/01454455980224005 NR 31 TC 1 Z9 1 PU COUNCIL EXCEPTIONAL CHILDREN PI ARLINGTON PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA SN 2154-1647 J9 EDUC TRAIN AUTISM DE JI Educ. Train. Autism Dev. Disabil. PD DEC PY 2011 VL 46 IS 4 BP 596 EP 606 PG 11 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 850WN UT WOS:000297230400009 ER PT J AU Rispoli, MJ O'Reilly, MF Sigafoos, J Lang, R Kang, S Lancioni, G Parker, R AF Rispoli, Mandy J. O'Reilly, Mark F. Sigafoos, Jeff Lang, Russell Kang, Soyeon Lancioni, Giulio Parker, Richard TI Effects of Presession Satiation on Challenging Behavior and Academic Engagement for Children with Autism during Classroom Instruction SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID FUNCTIONAL-ANALYSIS; SELF-INJURY; SLEEP-DEPRIVATION; INTERVENTION; DISABILITIES; REINFORCERS AB We evaluated the effects of presession satiation on challenging behavior and academic engagement during subsequent classroom activities for three 5-6 year-old children with autism. The percentage of 10-s intervals with challenging behavior and academic engagement during 20-min classroom activity sessions was observed under two conditions. One condition involved presession satiation, in which participants were given unrestricted access to tangible items that maintained their challenging behavior prior to the classroom sessions. This presession satiation continued until the children rejected the tangible item three times. The second condition did not entail presession satiation prior to the beginning of classroom sessions. Effects of the two conditions on challenging behavior and academic engagement were evaluated using individual participant alternating treatments designs. Results demonstrated that the precession satiation condition was associated with consistently lower percentages of intervals with challenging behavior and consistently higher percentages of intervals with. academic engagement. C1 [Rispoli, Mandy J.; Parker, Richard] Texas A&M Univ, College Stn, TX 77843 USA. [O'Reilly, Mark F.; Kang, Soyeon] Univ Texas Austin, Austin, TX 78712 USA. [Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand. [Lang, Russell] Texas State Univ, San Marcos, TX USA. [Lancioni, Giulio] Univ Bari, I-70121 Bari, Italy. RP Rispoli, MJ (reprint author), Texas A&M Univ, 4225 TAMU, College Stn, TX 77843 USA. EM mrispoli@tamu.edu CR Abramson J. 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M., 2003, FOCUS AUTISM OTHER D, V18, P87 RISPOLI M, J APPL BEHA IN PRESS Schopler E., 1988, CHILDHOOD AUTISM RAT Sparrow S, 1984, VINELAND ADAPTIVE BE Zhou LM, 2001, J APPL BEHAV ANAL, V34, P179, DOI 10.1901/jaba.2001.34-179 NR 27 TC 6 Z9 6 PU COUNCIL EXCEPTIONAL CHILDREN PI ARLINGTON PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA SN 2154-1647 J9 EDUC TRAIN AUTISM DE JI Educ. Train. Autism Dev. Disabil. PD DEC PY 2011 VL 46 IS 4 BP 607 EP 618 PG 12 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 850WN UT WOS:000297230400010 ER PT J AU Ostryn, C Wolfe, PS AF Ostryn, Cheryl Wolfe, Pamela S. TI Teaching Preschool Children With Autism Spectrum Disorders to Expressively Discriminate Between "What's That?" and "Where Is It?" SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE autism spectrum disorders; establishing operations; wh-questions; prompting ID JOINT ATTENTION; WH-QUESTIONS; INTERVENTION; ACQUISITION; BEHAVIOR AB Discrimination of question-asking is a critical conversational skill with considerable practical importance. Children with autism spectrum disorders (ASD) must be taught this skill to become competent communicators and function in everyday communicative situations. In previous question-asking literature, researchers have focused on teaching wh-questions in isolation. This study is an extension of previous research and conducted to investigate the ability of three preschool children with ASD to learn and discriminate when to use the two wh-questions, "What's that?" and "Where is it?" Results are interpreted to conclude that all three children learned to ask and discriminate between the questions within 6 to 16 instructional sessions, and learned novel vocabulary after asking "What's that?" This study supports using a prompting procedure for teaching these two wh-questions, and the importance of identifying individualized establishing operations to increase attending behavior, as well as conducting detailed prerequisite skill assessments to maximize learning of wh-questions. C1 [Ostryn, Cheryl; Wolfe, Pamela S.] Penn State Univ, University Pk, PA 16802 USA. RP Ostryn, C (reprint author), Penn State Univ, 212A Cedar Bldg, University Pk, PA 16802 USA. EM Cheryl.ostryn@ucdenver.edu CR BLOOM L, 1982, CHILD DEV, V53, P1084, DOI 10.1111/j.1467-8624.1982.tb01374.x Brown R., 1973, STUDIES CHILD LANGUA, P295 Capps L., 1998, AUTISM, V2, P325, DOI DOI 10.1177/1362361398024002 Cooper J. O., 2007, APPL BEHAV ANAL Esbenshade P. 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L., 2002, ANAL VERBAL BEHAV, V18, P15 Sundberg ML, 2001, BEHAV MODIF, V25, P698, DOI 10.1177/0145445501255003 TAYLOR BA, 1995, J APPL BEHAV ANAL, V28, P3, DOI 10.1901/jaba.1995.28-3 TERENCE HS, 1963, J EXPT ANAL BEHAV, V6, P1 TYACK D, 1977, J CHILD LANG, V4, P211 WETHERBY AM, 1986, J AUTISM DEV DISORD, V16, P295, DOI 10.1007/BF01531661 Whalen C, 2006, J AUTISM DEV DISORD, V36, P655, DOI 10.1007/s10803-006-0108-z Williams G, 2003, J APPL BEHAV ANAL, V36, P285, DOI 10.1901/jaba.2003.36-285 Williams G, 2000, J APPL BEHAV ANAL, V33, P627, DOI 10.1901/jaba.2000.33-627 Woods JJ, 2003, LANG SPEECH HEAR SER, V34, P180, DOI 10.1044/0161-1461(2003/015) NR 35 TC 4 Z9 4 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1088-3576 J9 FOCUS AUTISM DEV DIS JI Focus Autism Dev. Disabil. PD DEC PY 2011 VL 26 IS 4 BP 195 EP 205 DI 10.1177/1088357611421504 PG 11 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 850UJ UT WOS:000297224700001 ER PT J AU Angell, ME Nicholson, JK Watts, EH Blum, C AF Angell, Maureen E. Nicholson, Joanna K. Watts, Emily H. Blum, Craig TI Using a Multicomponent Adapted Power Card Strategy to Decrease Latency During Interactivity Transitions for Three Children With Developmental Disabilities SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE Power Cards; interactivity transitions; visual cues; developmental disabilities; elementary age ID INTELLECTUAL DISABILITIES; MENTAL-RETARDATION; YOUNG-CHILDREN; BEHAVIORS; INDIVIDUALS; AUTISM; STUDENTS; REINFORCERS; COMPUTER; SKILLS AB An adapted Power Card strategy was examined to determine effectiveness in decreasing latency in responding to teacher cues to initiate interactivity transitions in the classroom among three students, aged 10 to 11 years, with developmental disabilities (i.e., one with autism and two with intellectual disability). The Power Card strategy, a form of visually cued instruction, included scripts in which the students' "heroes" or preferred fictional characters demonstrated targeted interactivity transition behaviors. The strategy decreased response latency for all three students as documented within a single-case withdrawal (A-B-A-B-A-B) design replicated across the three participants. Instructional staff implemented the intervention and, at the end of the study, all remarked about the dramatic effectiveness of the adapted Power Card strategy, said they would use this strategy in the future, and noted that overall classroom functioning had improved. Implications for classroom practice and recommendations for further research on the use of Power Card strategies are discussed. C1 [Angell, Maureen E.; Nicholson, Joanna K.] Illinois State Univ, Dept Special Educ, Normal, IL 61790 USA. RP Angell, ME (reprint author), Illinois State Univ, Dept Special Educ, Campus Box 5910, Normal, IL 61790 USA. EM meangel@ilstu.edu CR Baker M. J., 2000, J POSIT BEHAV INTERV, V2, P66, DOI 10.1177/109830070000200201 Baker MJ, 1998, J ASSOC PERS SEVERE, V23, P300, DOI 10.2511/rpsd.23.4.300 BERLINER D, 1978, CHANGING ACAD LEARNI BILLINGSLEY F, 1980, BEHAV ASSESS, V2, P229 CHARLOP MH, 1990, J APPL BEHAV ANAL, V23, P163, DOI 10.1901/jaba.1990.23-163 Charlop-Christy MH, 1998, J AUTISM DEV DISORD, V28, P189, DOI 10.1023/A:1026061220171 CONNELL MC, 1993, J APPL BEHAV ANAL, V26, P345, DOI 10.1901/jaba.1993.26-345 Cooper J. O., 2007, APPL BEHAV ANAL COTE CA, 2005, J APPL BEHAV ANAL, V26, P345 Crone D. A., 2003, BUILDING POSITIVE BE Davies DK, 2002, EDUC TRAIN MENT RET, V37, P209 Davies DK, 2003, RES PRACT PERS SEV D, V28, P182, DOI 10.2511/rpsd.28.4.182 Davies DK, 2002, MENT RETARD, V40, P358, DOI 10.1352/0047-6765(2002)040<0358:EITMSO>2.0.CO;2 Dettmer S., 2000, FOCUS AUTISM OTHER D, V15, P163, DOI DOI 10.1177/108835760001500307 DEVENPORT JM, 2004, THESIS U S FLORIDA T DOWNING JE, 2006, TEACHING LANGUAGE AR, P39 Dunlap G, 1995, J ASSOC PERS SEVERE, V20, P248 EPSTEIN LJ, 1985, J ABNORM CHILD PSYCH, V13, P281, DOI 10.1007/BF00910648 Fairbanks S, 2007, EXCEPT CHILDREN, V73, P288 Fisher C. W., 1981, J CLASSROOM INTERACT, V17, P2 Gagnon E., 2001, POWER CARDS USING SP Hersen M., 1976, SINGLE CASE EXPT DES HOLLOWOOD TM, 1995, EXCEPT CHILDREN, V61, P242 Horner RH, 2005, EXCEPT CHILDREN, V71, P165 Keeling K., 2003, FOCUS AUTISM OTHER D, V18, P105, DOI 10.1177/108835760301800204 Lee D. L., 2005, EXCEPTIONALITY, V13, P141, DOI 10.1207/s15327035ex1303_1 Martella R. 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PD DEC PY 2011 VL 26 IS 4 BP 206 EP 217 DI 10.1177/1088357611421169 PG 12 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 850UJ UT WOS:000297224700002 ER PT J AU Stringfield, SG Luscre, D Gast, DL AF Stringfield, Suzanne Griggs Luscre, Deanna Gast, David L. TI Effects of a Story Map on Accelerated Reader Postreading Test Scores in Students With High-Functioning Autism SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE autism; graphic organizer; Story Map; story recall; story grammar ID SPECTRUM DISORDERS; CHILDREN; COMPREHENSION; INSTRUCTION; LITERACY; NEUROPSYCHOLOGY; LANGUAGE; MEMORY AB In this study, three elementary-aged boys with high-functioning autism (HFA) were taught to use a graphic organizer called a Story Map as a postreading tool during language arts instruction. Students learned to accurately complete the Story Map. The effect of the intervention on story recall was assessed within the context of a multiple-baseline design across participants as measured by performance on modified Accelerated Reader quizzes. Positive effects were achieved quickly and maintained throughout the study. During choice and maintenance conditions, two participants rarely chose to use the graphic organizer, a visual prompt that may have been self-faded during intervention. Results show that a Story Map may be a useful graphic organizer for elementary schoolteachers who have children with HFA in their classrooms. C1 [Stringfield, Suzanne Griggs; Luscre, Deanna; Gast, David L.] Univ Georgia, Cumming, GA 30041 USA. RP Luscre, D (reprint author), Univ Georgia, 3250 Brown Thrasher Trace, Cumming, GA 30041 USA. 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PD DEC PY 2011 VL 26 IS 4 BP 218 EP 229 DI 10.1177/1088357611423543 PG 12 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 850UJ UT WOS:000297224700003 ER PT J AU Randolph, JK Stichter, JP Schmidt, CT O'Connor, KV AF Randolph, Jena K. Stichter, Janine P. Schmidt, Carla T. O'Connor, Karen V. TI Fidelity and Effectiveness of PRT Implemented by Caregivers Without College Degrees SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE pivotal response training; parent training; parent education ID PIVOTAL RESPONSE; AUTISM; CHILDREN; PREDICTORS; SKILLS AB Pivotal Response Training (PRT) combines research on task interspersal, direct reinforcement, and role of choice in a treatment for children with autism spectrum disorders (ASD). Parents of children with ASD have been trained to implement PRT to improve language and social interaction. Variables other than child characteristics, such as parental income and education level, may influence training and child outcomes. The authors investigated one of those variables, parental education level, by examining the fidelity and effectiveness of PRT implementation among three caregivers without college degrees. A concurrent multiple baseline design across all phases was used. Two of the three caregiver-child dyads benefited from the intervention. Caregivers' level of education may not be as critical as other variables, such as consistency of training sessions and other family dynamics, for successful implementation of PRT. C1 [Randolph, Jena K.] Columbia Publ Sch, Columbia, MO 65202 USA. [Stichter, Janine P.; O'Connor, Karen V.] Univ Missouri, Dept Special Educ, Columbia, MO 65211 USA. [Schmidt, Carla T.] Univ Kansas, Juniper Gardens Childrens Project, Lawrence, KS 66045 USA. RP Randolph, JK (reprint author), Columbia Publ Sch, 5801 Arbor Pointe Pkwy, Columbia, MO 65202 USA. EM Jrandolp@columbia.k12.mo.us CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Ary D., 2002, INTRO RES ED, V6th Baker-Ericzen MJ, 2007, J POSIT BEHAV INTERV, V9, P52, DOI 10.1177/10983007070090010601 Eaves LC, 2008, J AUTISM DEV DISORD, V38, P739, DOI 10.1007/s10803-007-0441-x Kazdin A. E., 1982, SINGLE CASE RES DESI Koegel LK, 2003, TOP LANG DISORD, V23, P134 Koegel R. L., 2006, PIVOTAL RESPONSE TRE Koegel R. L., 1989, TEACH PIVOTAL BEHAV Koegel RL, 1996, J AUTISM DEV DISORD, V26, P347, DOI 10.1007/BF02172479 LANDIS JR, 1977, BIOMETRICS, V33, P159, DOI 10.2307/2529310 National Research Council, 2001, ED CHILDR AUT Pierce K, 1997, J APPL BEHAV ANAL, V30, P157, DOI 10.1901/jaba.1997.30-157 Reyno SM, 2006, J CHILD PSYCHOL PSYC, V47, P99, DOI 10.1111/j.1469-7610.2005.01544.x Sherer MR, 2005, J CONSULT CLIN PSYCH, V73, P525, DOI 10.1037/0022-006X.73.3.525 Simpson R. L., 2005, AUTISM SPECTRUM DISO Sparrow SS, 2005, VINELAND ADAPTIVE BE STAHMER AC, 1995, J AUTISM DEV DISORD, V25, P123, DOI 10.1007/BF02178500 TAPP J, 1995, BEHAV RES METH INSTR, V27, P25, DOI 10.3758/BF03203616 Weiss MJ, 2001, BEHAV MODIF, V25, P785, DOI 10.1177/0145445501255007 NR 19 TC 6 Z9 6 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1088-3576 J9 FOCUS AUTISM DEV DIS JI Focus Autism Dev. Disabil. PD DEC PY 2011 VL 26 IS 4 BP 230 EP 238 DI 10.1177/1088357611421503 PG 9 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 850UJ UT WOS:000297224700004 ER PT J AU Hurlbutt, KS AF Hurlbutt, Karen S. TI Experiences of Parents Who Homeschool Their Children With Autism Spectrum Disorders SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE autism; homeschooling ID DISABILITIES; PERCEPTIONS; SCHOOLS AB Teachers may be inadequately prepared for the increasing number of students being identified with autism spectrum disorders (ASD), as students with ASD may not respond to traditional methods of instruction. Some parents of children with ASD are concerned with educational programming available through public school systems and are turning to homeschooling. Ten parents from nine families participated in this qualitative study to share their experiences, opinions, and perceptions of homeschooling as compared to instruction in public school settings. Four themes emerged from the data analysis, along with one overarching theme. The 10 parents who homeschool their children with ASD believe they have found a treatment plan that works, and their perception has been that the school has been either (a) not willing and/or (b) unable to provide effective programming. An unexpected finding was that homeschooling goals and interventions varied across the families. C1 Minnesota State Univ, Mankato, MN 56001 USA. RP Hurlbutt, KS (reprint author), Minnesota State Univ, 313 Armstrong Hall, Mankato, MN 56001 USA. EM Karen.hurlbutt@mnsu.edu CR Boyd BA, 2008, EDUC TRAIN DEV DISAB, V43, P186 Corbin Juliet, 2007, BASICS QUALITATIVE R, Vthird DOHENY K, 2010, AUTISM FAMILIES HIGH GUSMAN M, 2006, SOCIAL SKILLS AUTISM GUSMAN M, 2006, HOMESCHOOLING CHILDR HOLLAND O, 2005, TEACHING HOME NEW AP Jordan R, 2003, LEARNING AND BEHAVIOR PROBLEMS IN ASPERGER SYNDROME, P212 Keane E., 2008, TEACHING EXCEPTIONAL, V41, P22 Kunce L, 2003, LEARNING AND BEHAVIOR PROBLEMS IN ASPERGER SYNDROME, P244 Moreno J, 2008, EDUC TRAIN DEV DISAB, V43, P162 MYLES BS, 2008, ED CHILDREN YOUTH AU, P357 *NAT CTR ED STAT, 2008, 1 5 MILL HOM SCH STU RAY B, 2002, RES FACTS HOMESCHOOL Reed P, 2007, EXCEPT CHILDREN, V73, P417 Rice Catherine, 2009, Morbidity and Mortality Weekly Report, V58, P1 SAMUELS C, 2008, PARENTS CHILDREN AUT Simpson RL, 2004, EXCEPT CHILDREN, V70, P135 Starr EA, 2006, EDUC TRAIN DEV DISAB, V41, P315 Starr EM, 2001, EDUC TRAIN MENT RET, V36, P55 Umbarger GT, 2007, EDUC TRAIN DEV DISAB, V42, P437 WILKINSON L, 2010, AUTISM ASPERGER SYND NR 21 TC 2 Z9 2 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1088-3576 J9 FOCUS AUTISM DEV DIS JI Focus Autism Dev. Disabil. PD DEC PY 2011 VL 26 IS 4 BP 239 EP 249 DI 10.1177/1088357611421170 PG 11 WC Education, Special; Psychology, Developmental; Rehabilitation SC Education & Educational Research; Psychology; Rehabilitation GA 850UJ UT WOS:000297224700005 ER PT J AU Parner, ET Thorsen, P Dixon, G de Klerk, N Leonard, H Nassar, N Bourke, J Bower, C Glasson, EJ AF Parner, Erik T. Thorsen, Poul Dixon, Glenys de Klerk, Nicholas Leonard, Helen Nassar, Natasha Bourke, Jenny Bower, Carol Glasson, Emma J. TI A Comparison of Autism Prevalence Trends in Denmark and Western Australia SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Autism spectrum disorders; Prevalence; Diagnosis; Denmark; Western Australia ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; REGISTER; CHILDREN; EPIDEMIOLOGY; DIAGNOSIS; DATABASE; TIME; AGE AB Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods, case ascertainment and age at diagnosis. This study compared prevalence statistics for two distinct geographical regions, Denmark and Western Australia, both of which have had population-based registers and consistent classification systems operating over the past decade. Overall ASD prevalence rates were higher in Denmark (68.5 per 10,000 children) compared with Western Australia (51.0 per 10,000 children), while the diagnosis of childhood autism was more prevalent in Western Australia (39.3 per 10,000 children) compared with Denmark (21.8 per 10,000 children). These differences are probably caused by local phenomena affecting case ascertainment but influence from biological or geographical factors may exist. C1 [Parner, Erik T.] Univ Aarhus, Dept Biostat, Inst Publ Hlth, Aarhus, Denmark. [Thorsen, Poul] Lillebaelt Hosp, Dept Gynecol & Obstet, Kolding, Denmark. [Dixon, Glenys; de Klerk, Nicholas; Leonard, Helen; Nassar, Natasha; Bourke, Jenny; Bower, Carol; Glasson, Emma J.] Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA 6009, Australia. [Nassar, Natasha] Univ Sydney, Kolling Inst Med Res, Sydney, NSW 2006, Australia. [Glasson, Emma J.] Univ Western Australia, Sch Populat Hlth, Perth, WA 6009, Australia. [Glasson, Emma J.] Univ Western Australia, Sch Populat Hlth, Crawley, WA 6009, Australia. RP Glasson, EJ (reprint author), Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA 6009, Australia. EM Emma.Glasson@health.wa.gov.au RI Leonard, Helen/A-1010-2013; Glasson, Emma/H-5339-2013 OI Leonard, Helen/0000-0001-6405-5834; Glasson, Emma/0000-0003-3996-9049 CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Baron-Cohen S, 2009, BRIT J PSYCHIAT, V194, P500, DOI 10.1192/bjp.bp.108.059345 Blaxill MF, 2004, PUBLIC HEALTH REP, V119, P536, DOI 10.1016/j.phr.2004.09.003 Centers for Disease Control and Prevention, 2009, MMWR-MORBID MORTAL W, V58, P1 Fombonne E, 2005, J CLIN PSYCHIAT, V66, P3 Fombonne E, 2009, PEDIATR RES, V65, P591, DOI 10.1203/PDR.0b013e31819e7203 Gardener H, 2009, BRIT J PSYCHIAT, V195, P7, DOI 10.1192/bjp.bp.108.051672 Glasson EJ, 2008, MED J AUSTRALIA, V188, P288 Glasson EJ, 2004, MED J AUSTRALIA, V181, P514 Glasson EJ, 2002, J PAEDIATR CHILD H, V38, P321, DOI 10.1046/j.1440-1754.2002.00859.x Mandell DS, 2005, PEDIATRICS, V116, P1480, DOI 10.1542/peds.2005-0185 MunkJorgensen P, 1997, DAN MED BULL, V44, P82 Nassar N, 2009, INT J EPIDEMIOL, V38, P1245, DOI 10.1093/ije/dyp260 Parner ET, 2008, ARCH PEDIAT ADOL MED, V162, P1150, DOI 10.1001/archpedi.162.12.1150 Petterson B, 2005, ANN HUM BIOL, V32, P237, DOI 10.1080/03014460500075035 STANLEY FJ, 1994, PAEDIATR PERINAT EP, V8, P433, DOI 10.1111/j.1365-3016.1994.tb00482.x World Health Organisation, 1992, ICD 10 CLASS MENT BE NR 18 TC 16 Z9 16 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1601 EP 1608 DI 10.1007/s10803-011-1186-0 PG 8 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300001 PM 21311963 ER PT J AU Gastgeb, HZ Wilkinson, DA Minshew, NJ Strauss, MS AF Gastgeb, Holly Zajac Wilkinson, Desiree A. Minshew, Nancy J. Strauss, Mark S. TI Can Individuals with Autism Abstract Prototypes of Natural Faces? SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Prototype; Autism; Face perception; Cognition ID RECOGNITION; PERCEPTION; DISORDERS; CHILDREN; CATEGORIZATION; COMPETENCE; PATTERNS; GENDER; MEMORY; SKILLS AB There is a growing amount of evidence suggesting that individuals with autism have difficulty with face processing. One basic cognitive ability that may underlie face processing difficulties is the ability to abstract a prototype. The current study examined prototype formation with natural faces using eye-tracking in high-functioning adults with autism and matched controls. Individuals with autism were found to have significant difficulty forming prototypes of natural faces. The eye-tracking data did not reveal any between group differences in the general pattern of attention to the faces, indicating that these difficulties were not due to attentional factors. Results are consistent with previous studies that have found a deficit in prototype formation and extend these deficits to natural faces. C1 [Gastgeb, Holly Zajac; Wilkinson, Desiree A.; Strauss, Mark S.] Univ Pittsburgh, Dept Psychol, Pittsburgh, PA 15260 USA. RP Strauss, MS (reprint author), Univ Pittsburgh, Dept Psychol, 210 S Bouquet St, Pittsburgh, PA 15260 USA. EM strauss@pitt.edu CR Behrmann M, 2006, NEUROPSYCHOLOGIA, V44, P110, DOI 10.1016/j.neuropsychologia.2005.04.002 Best C. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1609 EP 1618 DI 10.1007/s10803-011-1190-4 PG 10 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300002 PM 21318641 ER PT J AU Nevill, REA White, SW AF Nevill, Rose E. A. White, Susan W. TI College Students' Openness Toward Autism Spectrum Disorders: Improving Peer Acceptance SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; College student; Adult; Openness; Acceptance; College transition ID POSTSECONDARY EDUCATION; QUOTIENT AQ; PERCEPTIONS; ATTITUDES; ADULTS; DISABILITIES; PHENOTYPE; CHILDREN AB One probable consequence of rising rates of autism spectrum disorder diagnosis in individuals without co-occurring intellectual disability is that more young adults with diagnoses or traits of ASD will attend college and require appropriate supports. This study sought to explore college students' openness to peers who demonstrate ASD-characteristic behaviors. Results showed a significant difference in openness between students who had a first-degree relative with an ASD (n = 18) and a gender-matched comparison group of students without such experience (F = 4.85, p = .035). Engineering and physical science majors did not demonstrate more overall openness. Universities should make efforts to prevent social isolation of students with ASD, such as programs to educate students about ASD and supports to ease college transition. C1 [Nevill, Rose E. A.; White, Susan W.] Virginia Tech, Dept Psychol, Blacksburg, VA 24061 USA. RP Nevill, REA (reprint author), Virginia Tech, Dept Psychol, Blacksburg, VA 24061 USA. 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J., 2005, ED TRAINING, V47, P484, DOI 10.1108/00400910510626330 *US DEP ED, 2003, ARCH COLL TRANS PROG WELKOWITZ LA, 2005, SPERGERS SYNDROME IN, P173 Wertsch J. V., 1985, VYGOTSKY SOCIAL FORM White SW, 2009, CLIN PSYCHOL REV, V29, P216, DOI 10.1016/j.cpr.2009.01.003 NR 45 TC 9 Z9 10 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 DEC PY 2011 VL 41 IS 12 BP 1619 EP 1628 DI 10.1007/s10803-011-1189-x PG 10 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300003 PM 21318642 ER PT J AU Murshid, EZ AF Murshid, Ebtissam Z. TI Characteristics and Dental Experiences of Autistic Children in Saudi Arabia: Cross-sectional Study SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Saudi Arabia; Diagnosis age; Disabilities; Dental experiences ID SPECTRUM DISORDERS; MANAGEMENT AB The purpose of this study is to report base line information about characteristics, and dental experiences of a group of autistic children in three major cities of Saudi Arabia. Most of the children (76.2%) included in the study were diagnosed with autism before the age of 5 years. More than half of the children (53.7%) had no previous dental experience while 33% were treated under general anesthesia. The American Academy of Pediatrics' recommendations should be applied in Saudi Arabia to help improve the average age of diagnosis and make a positive effect on children with autism and their families. Regular visits to dental clinics should be recommended to all families with autistic children to reduce dental disease. C1 King Saud Univ, Coll Dent, Dept Prevent Dent Sci, Riyadh 11545, Saudi Arabia. RP Murshid, EZ (reprint author), King Saud Univ, Coll Dent, Dept Prevent Dent Sci, POB 60169, Riyadh 11545, Saudi Arabia. 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A Validation Study of a Rating Scale for Adults SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autistic disorder; Asperger syndrome; Psychiatric status rating scales; Self assessment (Psychology); Diagnostic techniques and procedures; Adult ID SPECTRUM QUOTIENT AQ; DISORDERS; ADOLESCENTS; SYMPTOMS; RELIABILITY; CHILDHOOD; BEHAVIORS; INTERVIEW; VALIDITY; SAMPLE AB There is a paucity of diagnostic instruments for adults with autism spectrum disorder (ASD). This study evaluates the psychometric properties of the Swedish version of the Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), an 80-item self-rating scale designed to assist clinicians diagnosing ASD in adults. It was administered to 75 adults with ASD and 197 comparison cases. Also, a subset completed the Autism Spectrum Quotient (AQ). Three out of four subscales had high internal consistency. Sensitivity was 91% and specificity was 93%. The ASD subjects had significantly higher mean scores on all subscales. ASD females had higher scores than ASD males on the sensory motor subscale, a dimension not included in the AQ. RAADS-R showed promising test re-test reliability. C1 [Andersen, Lisa M. J.] Stockholm Univ, Dept Psychol, S-10691 Stockholm, Sweden. [Naswall, Katharina] Univ Canterbury, Dept Psychol, Christchurch 1, New Zealand. [Manouilenko, Irina; Bejerot, Susanne] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden. [Nylander, Lena] Lund Univ, Dept Clin Sci, Lund, Sweden. [Edgar, Johan] Linkoping Univ, Fac Hlth Sci, Linkoping, Sweden. [Ritvo, Riva Ariella] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA. [Ritvo, Edward] UCLA Sch Med, Inst Neuropsychiat, Los Angeles, CA 90024 USA. [Bejerot, Susanne] St Goran Hosp, S-11281 Stockholm, Sweden. RP Bejerot, S (reprint author), St Goran Hosp, S-11281 Stockholm, Sweden. 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PD DEC PY 2011 VL 41 IS 12 BP 1635 EP 1645 DI 10.1007/s10803-011-1191-3 PG 11 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300005 PM 21327833 ER PT J AU Ingersoll, B Hopwood, CJ Wainer, A Donnellan, MB AF Ingersoll, Brooke Hopwood, Christopher J. Wainer, Allison Donnellan, M. Brent TI A Comparison of Three Self-Report Measures of the Broader Autism Phenotype in a Non-Clinical Sample SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Broader autism phenotype; Self-report; Assessment ID SPECTRUM QUOTIENT AQ; PERSONALITY-TRAITS; GENERAL-POPULATION; SOCIAL IMPAIRMENT; FAMILY-HISTORY; COLLEGE-STUDENTS; TWIN; INVENTORY; VALIDITY; ADULTS AB Three self-report measures of the broader autism phenotype (BAP) were evaluated in terms of their internal consistency, distribution of scores, factor structure, and criterion-related validity in a non-clinical sample. All measures showed a continuous distribution. The SRS-A and BAPQ showed expected sex differences and were superior to the AQ in terms of internal consistency. The proposed factor structure of the BAPQ replicated better than the proposed structures of the other measures. All measures showed evidence of criterion validity via correlations with related constructs and each measure incremented the others in predicting related constructs. However, the SRS-A and BAPQ were generally stronger in this domain. Recommendations for the use of these instruments for measuring the BAP in non-clinical populations are discussed. C1 [Ingersoll, Brooke; Hopwood, Christopher J.; Wainer, Allison; Donnellan, M. Brent] Michigan State Univ, Dept Psychol, E Lansing, MI 48824 USA. RP Ingersoll, B (reprint author), Michigan State Univ, Dept Psychol, 105B Psychol Bldg, E Lansing, MI 48824 USA. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1646 EP 1657 DI 10.1007/s10803-011-1192-2 PG 12 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300006 PM 21331821 ER PT J AU Chen, KL Chiang, FM Tseng, MH Fu, CP Hsieh, CL AF Chen, Kuan-Lin Chiang, Fu-Mei Tseng, Mei-Hui Fu, Chung-Pei Hsieh, Ching-Lin TI Responsiveness of the Psychoeducational Profile-third Edition for Children with Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Psychoeducational profile-third edition; Autism spectrum disorders; Responsiveness ID HEALTH-STATUS; CHINESE VERSION; YOUNG-CHILDREN; INTERVENTION; PROGRAM; CPEP AB The aim of this study was to examine the responsiveness of the Psychoeducational Profile-third edition (PEP-3) in children with Autism Spectrum Disorders (ASD). We investigated the responsiveness in terms of three types of scores (i.e., raw scores, developmental ages, and percentile ranks) of the subtests and composites of the PEP-3 and three methods of analysis were used: effect size, standardized response mean, and paired t test. The findings generally support the use of the PEP-3 as an outcome measure. We suggest using the raw scores and developmental ages of the PEP-3 when evaluating program effectiveness and developmental changes for children with ASD. C1 [Chen, Kuan-Lin; Tseng, Mei-Hui; Hsieh, Ching-Lin] Natl Taiwan Univ, Sch Occupat Therapy, Coll Med, Taipei 10764, Taiwan. [Chiang, Fu-Mei; Tseng, Mei-Hui; Hsieh, Ching-Lin] Natl Taiwan Univ Hosp, Dept Phys Med & Rehabil, Taipei, Taiwan. [Fu, Chung-Pei] Fu Jen Catholic Univ, Dept Occupat Therapy, Coll Med, Taipei, Taiwan. RP Hsieh, CL (reprint author), Natl Taiwan Univ, Sch Occupat Therapy, Coll Med, Taipei 10764, Taiwan. 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PD DEC PY 2011 VL 41 IS 12 BP 1658 EP 1664 DI 10.1007/s10803-011-1201-5 PG 7 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300007 PM 21336523 ER PT J AU Moruzzi, S Ogliari, A Ronald, A Happe, F Battaglia, M AF Moruzzi, Sara Ogliari, Anna Ronald, Angelica Happe, Francesca Battaglia, Marco TI The Nature of Covariation Between Autistic Traits and Clumsiness: A Twin Study in a General Population Sample SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Clumsiness; Autistic traits; CBCL; Comorbidity; Twin study ID DEVELOPMENTAL COORDINATION DISORDER; DEFICIT-HYPERACTIVITY DISORDER; CHILD-BEHAVIOR CHECKLIST; SPECTRUM DISORDERS; ASPERGERS-SYNDROME; ENVIRONMENTAL-INFLUENCES; MOTOR COORDINATION; SWEDISH CHILDREN; SHARED ETIOLOGY; IDENTIFICATION AB While social impairment, difficulties with communication, and restricted repetitive behaviors are central features of Autism Spectrum Disorders, physical clumsiness is a commonly co-occuring feature. In a sample of 398 twin pairs (aged 8-17 years) from the Italian Twin Registry we investigated the nature of the co-variation between a psychometric index of Clumsiness and the Child Behavior Checklist (CBCL) Autistic scale. Bivariate twin analyses showed that a genetic etiological overlap, rather than direct causation, is a plausible explanation for the association between clumsiness and autistic-like traits, as measured by indices derived from the parent-rated CBCL scale. Additive genetic influences that impinge upon clumsiness/motor problem and autistic-like traits coincided remarkably, with a genetic correlation of 0.63. C1 [Moruzzi, Sara; Ogliari, Anna; Battaglia, Marco] Univ Vita Salute San Raffaele, Acad Ctr Study Behav Plast, I-20127 Milan, Italy. [Ogliari, Anna; Battaglia, Marco] Ist Sci San Raffaele, Milan, Italy. [Battaglia, Marco] Ist Sci Eugenio Medea, Dept Child Psychiat, Bosisio Parini, Italy. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1665 EP 1674 DI 10.1007/s10803-011-1199-8 PG 10 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300008 PM 21347613 ER PT J AU Benson, PR Kersh, J AF Benson, Paul R. Kersh, Joanne TI Marital Quality and Psychological Adjustment Among Mothers of Children with ASD: Cross-Sectional and Longitudinal Relationships SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Marital quality; Mothers; Psychological adjustment ID AUTISM SPECTRUM DISORDERS; PARENTAL SELF-EFFICACY; BEHAVIOR RATING FORM; DYADIC ADJUSTMENT; DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY; PRESCHOOL-CHILDREN; DEPRESSED MOOD; MENTAL-HEALTH; STRESS PROLIFERATION AB Using data drawn from a longitudinal study of families of children with ASD, the current study examined the impact of marital quality on three indicators of maternal psychological adjustment: depressed mood, parenting efficacy, and subjective well-being. Multiple regression analyses indicated marital quality to be a significant cross-sectional and longitudinal predictor of maternal adjustment. In the cross-sectional regressions, marital quality negatively predicted maternal depression and positively predicted parenting efficacy, and well-being, while in the longitudinal regressions, initial levels of marital quality negatively predicted maternal depressed mood and positively predicted well-being at follow-up. Longitudinal regression results also revealed that marital quality mediated the relationship between family SES and maternal well-being. Study limitations and implications are discussed. C1 [Benson, Paul R.] Univ Massachusetts, Dept Sociol, Boston, MA 02125 USA. [Benson, Paul R.; Kersh, Joanne] Univ Massachusetts, Ctr Social Dev & Educ, Boston, MA 02125 USA. RP Benson, PR (reprint author), Univ Massachusetts, Dept Sociol, 100 Morrissey Blvd, Boston, MA 02125 USA. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1675 EP 1685 DI 10.1007/s10803-011-1198-9 PG 11 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300009 PM 21347614 ER PT J AU Pitskel, NB Bolling, DZ Hudac, CM Lantz, SD Minshew, NJ Vander Wyk, BC Pelphrey, KA AF Pitskel, Naomi B. Bolling, Danielle Z. Hudac, Caitlin M. Lantz, Stephen D. Minshew, Nancy J. Vander Wyk, Brent C. Pelphrey, Kevin A. TI Brain Mechanisms for Processing Direct and Averted Gaze in Individuals with Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Direct gaze; Averted gaze; Gaze processing; Functional magnetic resonance imaging ID TEMPORO-PARIETAL JUNCTION; EYE-GAZE; SPECTRUM DISORDERS; SOCIAL-INTERACTION; FACIAL EXPRESSION; FACE PERCEPTION; CHILDREN; CONTACT; MIND; ATTENTION AB Prior studies have indicated brain abnormalities underlying social processing in autism, but no fMRI study has specifically addressed the differential processing of direct and averted gaze, a critical social cue. Fifteen adolescents and adults with autism and 14 typically developing comparison participants viewed dynamic virtual-reality videos depicting a simple but realistic social scenario, in which an approaching male figure maintained either direct or averted gaze. Significant group by condition interactions reflecting differential responses to direct versus averted gaze in people with autism relative to typically developing individuals were identified in the right temporoparietal junction, right anterior insula, left lateral occipital cortex, and left dorsolateral prefrontal cortex. Our results provide initial evidence regarding brain mechanisms underlying the processing of gaze direction during simple social encounters, providing new insight into the social deficits in individuals with autism. C1 [Pitskel, Naomi B.; Bolling, Danielle Z.; Hudac, Caitlin M.; Vander Wyk, Brent C.; Pelphrey, Kevin A.] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA. [Lantz, Stephen D.; Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Pittsburgh, PA USA. RP Pelphrey, KA (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, 230 S Frontage Rd, New Haven, CT 06520 USA. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1686 EP 1693 DI 10.1007/s10803-011-1197-x PG 8 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300010 PM 21484518 ER PT J AU Reisinger, LM Cornish, KM Fombonne, E AF Reisinger, Lisa M. Cornish, Kim M. Fombonne, Eric TI Diagnostic Differentiation of Autism Spectrum Disorders and Pragmatic Language Impairment SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Pragmatic language impairment; Broad phenotype; Diagnostic differentiation; Diagnostic measures; Behavior ID DEVELOPMENTAL DISORDERS; REPETITIVE BEHAVIOR; CHILDREN; BORDERLANDS; ADOLESCENTS; PHENOTYPE; HISTORY; DOMAINS AB The present study examined diagnostic differentiation between school-aged children with autism spectrum disorders (ASD) and children with pragmatic language impairment (PLI). Standardized diagnostic instruments were used to investigate the relationship between severity of 'autism triad' impairments and group membership. The Autism Diagnostic Observation Schedule was administered to 19 children with PLI and 22 children with ASD. Parents completed the Social Communication Questionnaire. There was a significant difference between diagnostic groups in the level of the severity of behaviors represented by the Communication and Reciprocal Social Interaction sub-domains on both diagnostic measures. Currently displayed Repetitive and Restricted Behaviors and Interests were not found to be useful for differentiating between groups. The similarities found between groups have important implications for intervention. C1 [Reisinger, Lisa M.; Cornish, Kim M.] McGill Univ, Dept Educ & Counselling Psychol, Montreal, PQ, Canada. [Reisinger, Lisa M.; Fombonne, Eric] Montreal Childrens Hosp, Autism Spectrum Disorders Program, Montreal, PQ H3H 1P3, Canada. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1694 EP 1704 DI 10.1007/s10803-011-1196-y PG 11 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300011 PM 21416199 ER PT J AU Kushki, A Chau, T Anagnostou, E AF Kushki, Azadeh Chau, Tom Anagnostou, Evdokia TI Handwriting Difficulties in Children with Autism Spectrum Disorders: A Scoping Review SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Review DE Handwriting; Autism; Fine motor control; Visual perception; Visual-motor integration; Kinesthesia ID HIGH-FUNCTIONING AUTISM; DEVELOPMENTAL COORDINATION DISORDER; PRIMARY-SCHOOL CHILDREN; ASPERGER-SYNDROME; ACADEMIC-ACHIEVEMENT; MOTOR IMPAIRMENT; VISUAL CONTROL; DYSPRAXIA; SPEED; INDIVIDUALS AB Functional handwriting involves complex interactions among physical, cognitive and sensory systems. Impairments in many aspects of these systems are associated with Autism spectrum disorders (ASD), suggesting a heightened risk of handwriting difficulties in children with ASD. This scoping review aimed to: (1) survey the existing evidence about potential contributions to compromised handwriting function in children with ASD, and (2) map out the existing studies documenting handwriting difficulties in children with ASD. The current evidence implicates impairments in fine motor control and visual-motor integration as likely contributors to handwriting difficulties in children with ASD, though the role of the latter is not well-understood. Moreover, diminished overall legibility and compromised letter formation are emerging points of convergence among existing studies of handwriting quality in children with ASD. C1 [Kushki, Azadeh; Chau, Tom; Anagnostou, Evdokia] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada. 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PD DEC PY 2011 VL 41 IS 12 BP 1706 EP 1716 DI 10.1007/s10803-011-1206-0 PG 11 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300012 PM 21350917 ER PT J AU Buhler, E Bachmann, C Goyert, H Heinzel-Gutenbrunner, M Kamp-Becker, I AF Buehler, Eva Bachmann, Christian Goyert, Hannah Heinzel-Gutenbrunner, Monika Kamp-Becker, Inge TI Differential Diagnosis of Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder by Means of Inhibitory Control and 'Theory of Mind' SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Differential diagnosis; Autism spectrum disorders (ASD); Attention deficit hyperactivity disorder (ADHD); Inhibitory control; Theory of mind ID PERVASIVE DEVELOPMENTAL DISORDER; EXECUTIVE FUNCTION DEFICITS; DEFICIT/HYPERACTIVITY DISORDER; EMOTION-RECOGNITION; ASPERGER-SYNDROME; FRONTAL-LOBE; PSYCHIATRIC-DISORDERS; FUNCTIONING AUTISM; FACIAL EXPRESSIONS; NEURAL CIRCUITRY AB Autism spectrum disorders (ASD) and attention deficit hyperactivity disorders (ADHD) are both associated with deficits in executive control and with problems in social contexts. This study analyses the variables inhibitory control and theory of mind (ToM), including a developmental aspect in the case of the latter, to differentiate between the disorders. Participants with an ASD (N = 86), an ADHD (N = 84) and with both disorders (N = 52) in the age range of 5-22 years were compared. Results were differences in inhibitory control (ADHD < ASD) and in the ToM performance among younger (ASD < ADHD) but not among older children. We discuss whether common deficits in ToM differ in the developmental course. C1 [Buehler, Eva; Bachmann, Christian] Univ Med Berlin, Dept Child & Adolescent Psychiat, D-13353 Berlin, Germany. [Goyert, Hannah; Heinzel-Gutenbrunner, Monika; Kamp-Becker, Inge] Univ Marburg, Dept Child & Adolescent Psychiat & Psychotherapy, D-35033 Marburg, Germany. [Kamp-Becker, Inge] Univ Klinikum Giessen & Marburg GmbH, Klin Kinder & Jugendpsychiat & Psychotherapie, D-35039 Marburg, Germany. RP Buhler, E (reprint author), Univ Med Berlin, Dept Child & Adolescent Psychiat, Augustenburger Pl 1, D-13353 Berlin, Germany. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1718 EP 1726 DI 10.1007/s10803-011-1205-1 PG 9 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300013 PM 21373957 ER PT J AU Shumway, S Thurm, A Swedo, SE Deprey, L Barnett, LA Amaral, DG Rogers, SJ Ozonoff, S AF Shumway, Stacy Thurm, Audrey Swedo, Susan E. Deprey, Lesley Barnett, Lou Ann Amaral, David G. Rogers, Sally J. Ozonoff, Sally TI Brief Report: Symptom Onset Patterns and Functional Outcomes in Young Children with Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Regression; Onset; Symptom; Outcomes ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE; REGRESSIVE AUTISM; LANGUAGE; AGE; COMMUNICATION; EMERGENCE; PHENOTYPE; CPEA AB This study examined the relationship between onset status and current functioning using a recently proposed onset classification system in 272 young children with autism spectrum disorder (ASD). Participants were classified into one of the following groups, based on parent report using the Autism Diagnostic Interview-Revised: Early Onset (symptoms by 12 months, no loss), Delay + Regression (symptoms by 12 months plus loss), Plateau (no early symptoms or loss), and Regression (no early symptoms, followed by loss). Findings indicate that current functioning does not differ according to onset pattern, calling into question the use of onset categorizations for prognostic purposes in children with ASD. C1 [Shumway, Stacy; Thurm, Audrey; Swedo, Susan E.] NIMH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA. [Deprey, Lesley; Barnett, Lou Ann; Amaral, David G.; Rogers, Sally J.; Ozonoff, Sally] Univ Calif Davis, Dept Psychiat & Behav Sci, MIND Inst, Davis, CA 95616 USA. RP Shumway, S (reprint author), NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr,MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA. EM shumways@mail.nih.gov CR Bernabei P, 2007, J AUTISM DEV DISORD, V37, P580, DOI 10.1007/s10803-006-0201-3 BROWN J, 1995, J AUTISM DEV DISORD, V25, P305, DOI 10.1007/BF02179291 Davidovitch M, 2000, J AUTISM DEV DISORD, V30, P113, DOI 10.1023/A:1005403421141 Goldberg WA, 2003, J AUTISM DEV DISORD, V33, P607, DOI 10.1023/B:JADD.0000005998.47370.ef Gotham K, 2009, J AUTISM DEV DISORD, V39, P693, DOI 10.1007/s10803-008-0674-3 Gotham K, 2007, J AUTISM DEV DISORD, V37, P613, DOI 10.1007/s10803-006-0280-1 Hansen RL, 2008, AMBUL PEDIATR, V8, P25, DOI 10.1016/j.ambp.2007.08.006 Jones LA, 2010, J AUTISM DEV DISORD, V40, P54, DOI 10.1007/s10803-009-0823-3 Kalb LG, 2010, J AUTISM DEV DISORD, V40, P1389, DOI 10.1007/s10803-010-0998-7 Kobayashi R, 1998, ACTA PSYCHIAT SCAND, V98, P296, DOI 10.1111/j.1600-0447.1998.tb10087.x Le Couteur A., 2003, AUTISM DIAGNOSTIC IN Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Lord C, 2004, J CHILD PSYCHOL PSYC, V45, P936, DOI 10.1111/j.1469-7610.2004.t01-1-00287.x Luyster R, 2005, DEV NEUROPSYCHOL, V27, P311, DOI 10.1207/s15326942dn2703_2 Maestro S, 2006, ACTA PSYCHIAT SCAND, V113, P68, DOI 10.1111/j.1600-0447.2005.00695.x Meilleur AAS, 2009, J INTELL DISABIL RES, V53, P115, DOI 10.1111/j.1365-2788.2008.01134.x Mullen E, 1995, MULLEN SCALES EARLY Ozonoff S, 2005, AUTISM, V9, P461, DOI 10.1177/1362361305057880 Ozonoff S, 2010, J AM ACAD CHILD PSY, V49, P256, DOI 10.1016/j.jaac.2009.11.009 Ozonoff S, 2008, AUTISM RES, V1, P320, DOI 10.1002/aur.53 Parr JR, 2011, J AUTISM DEV DISORD, V41, P332, DOI 10.1007/s10803-010-1055-2 Richler J, 2006, J AUTISM DEV DISORD, V36, P299, DOI 10.1007/s10803-005-0070-1 Risi S, 2006, J AM ACAD CHILD PSY, V45, P1094, DOI 10.1097/01.chi.0000227880.42780.0e ROGERS SJ, 1990, J AM ACAD CHILD PSY, V29, P863, DOI 10.1097/00004583-199011000-00004 SHORT AB, 1988, J AUTISM DEV DISORD, V18, P207, DOI 10.1007/BF02211947 Siperstein R, 2004, J AUTISM DEV DISORD, V34, P731, DOI 10.1007/s10803-004-5294-y Sparrow SS, 2005, VINELAND ADAPTIVE BE Stefanatos GA, 2008, NEUROPSYCHOL REV, V18, P305, DOI 10.1007/s11065-008-9073-y Werner E, 2005, ARCH GEN PSYCHIAT, V62, P889, DOI 10.1001/archpsyc.62.8.889 Werner E, 2005, J AUTISM DEV DISORD, V35, P337, DOI 10.1007/s10803-005-3301-6 Wiggins LD, 2009, AUTISM, V13, P357, DOI 10.1177/1362361309105662 NR 31 TC 12 Z9 12 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 DEC PY 2011 VL 41 IS 12 BP 1727 EP 1732 DI 10.1007/s10803-011-1203-3 PG 6 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300014 PM 21360021 ER PT J AU Robinson, EB Munir, K McCormick, MC Koenen, KC Santangelo, SL AF Robinson, Elise B. Munir, Kerim McCormick, Marie C. Koenen, Karestan C. Santangelo, Susan L. TI Brief Report: No Association Between Parental Age and Extreme Social-Communicative Autistic Traits in the General Population SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Autistic traits; Parental age; ALSPAC ID ASPERGER-SYNDROME TEST; PATERNAL AGE; SPECTRUM DISORDERS; MATERNAL AGE; RISK; CHILDHOOD; RELIABILITY; VALIDITY; OUTCOMES; CAST AB This is the first investigation of the relationship between parental age and extreme social-communicative autistic traits in the general population. The parents of 5,246 children in the Avon Longitudinal Study of Parents and Children (ALSPAC) completed the Social and Communication Disorders Checklist (SCDC). The association between parental age and SCDC scores was assessed in the full sample and among high scoring individuals (e.g. top 5%, 1%). There was no association between parental age and social-communicative autistic traits in the general population. Neither maternal nor paternal age was associated with extreme scores. These findings suggest that advanced parental age does not confer increased risk for extreme social and communication impairment assessed quantitatively. C1 [Robinson, Elise B.; Koenen, Karestan C.; Santangelo, Susan L.] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02114 USA. [Robinson, Elise B.; Santangelo, Susan L.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Ctr Human Genet Res, Boston, MA 02114 USA. [Robinson, Elise B.; Munir, Kerim] Childrens Hosp Boston, Div Dev Med, Boston, MA USA. [Munir, Kerim; Santangelo, Susan L.] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02114 USA. [McCormick, Marie C.; Koenen, Karestan C.] Harvard Univ, Sch Publ Hlth, Dept Soc Human Dev & Hlth, Boston, MA 02114 USA. [Koenen, Karestan C.] Harvard Ctr Dev Child, Cambridge, MA USA. RP Robinson, EB (reprint author), Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Simches Res Bldg,185 Cambridge St,6th Floor, Boston, MA 02114 USA. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1733 EP 1737 DI 10.1007/s10803-011-1202-4 PG 5 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300015 PM 21350918 ER PT J AU Paula, CS Ribeiro, SH Fombonne, E Mercadante, MT AF Paula, Cristiane S. Ribeiro, Sabrina H. Fombonne, Eric Mercadante, Marcos T. TI Brief Report: Prevalence of Pervasive Developmental Disorder in Brazil: A Pilot Study SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Prevalence; Pervasive developmental disorders; Autism; Epidemiological studies; South America ID AUTISM SPECTRUM DISORDERS; EPIDEMIOLOGY; DIAGNOSIS; CHILDREN; HEALTH; TIME; QUESTIONNAIRE; POPULATION; VALIDITY; TRENDS AB This pilot study presents preliminary results concerning the prevalence of Pervasive Developmental Disorder (PDD) in South America. It was a three-phase study conducted in a typical town in Southeast Brazil. 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Autism Dev. Disord. PD DEC PY 2011 VL 41 IS 12 BP 1738 EP 1742 DI 10.1007/s10803-011-1200-6 PG 5 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300016 PM 21337063 ER PT J AU Zayat, M Kalb, L Wodka, EL AF Zayat, Maya Kalb, Luther Wodka, Ericka L. TI Brief Report: Performance Pattern Differences Between Children with Autism Spectrum Disorders and Attention Deficit-Hyperactivity Disorder on Measures of Verbal Intelligence SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; ADHD; Verbal intelligence; Cognitive; Social reasoning; Verbal formulation ID WISC-III; PROFILES; IV AB Performance patterns on verbal subtests from the WISC-IV were compared between a clinically-referred sample of children with either autism spectrum disorders (ASD) or attention deficit/hyperactivity disorder (ADHD). Children with ASD demonstrated a statistically significant stepwise pattern where performance on Similarities was best, followed by Vocabulary, then Comprehension. Although children with ASD and ADHD share multiple behavioral features, this pattern was not observed for those with ADHD. Greater deficits in social reasoning and verbal formulation for children with ASD (compared to ADHD) are hypothesized to account for this observed difference in their performance pattern. Clinical implications, including use of this identified pattern in combination with other symptoms suggestive of ASD in referral decision making are discussed. C1 [Zayat, Maya] Loyola Univ Maryland, Baltimore, MD USA. [Kalb, Luther; Wodka, Ericka L.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA. [Wodka, Ericka L.] Johns Hopkins Univ, Sch Med, Baltimore, MD USA. RP Wodka, EL (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA. 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PD DEC PY 2011 VL 41 IS 12 BP 1743 EP 1747 DI 10.1007/s10803-011-1207-z PG 5 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300017 PM 21360020 ER PT J AU Shtayermman, O AF Shtayermman, Oren TI Getting to Grips with Asperger Syndrome: Understanding Adults on the Autism Spectrum SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Book Review C1 [Shtayermman, Oren] NYIT Sch Hlth Profess, Dept Interdisciplinary Hlth Sci, Old Westbury, NY 11568 USA. RP Shtayermman, O (reprint author), NYIT Sch Hlth Profess, Dept Interdisciplinary Hlth Sci, Kenneth Riland Room 354-366, Old Westbury, NY 11568 USA. EM oshtayer@nyit.edu CR HAGLAND C, 2010, GETTING GRIPS ASPERG 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 DEC PY 2011 VL 41 IS 12 BP 1750 EP 1751 DI 10.1007/s10803-011-1228-7 PG 2 WC Psychology, Developmental SC Psychology GA 850BB UT WOS:000297168300019 ER PT J AU Ciarleglio, CM Resuehr, HES McMahon, DG AF Ciarleglio, C. M. Resuehr, H. E. S. McMahon, D. G. TI INTERACTIONS OF THE SEROTONIN AND CIRCADIAN SYSTEMS: NATURE AND NURTURE IN RHYTHMS AND BLUES SO NEUROSCIENCE LA English DT Article DE 5-HT; light; seasonality; development; suprachiasmatic nucleus (SCN); mood disorders ID SEASONAL AFFECTIVE-DISORDER; RAT SUPRACHIASMATIC NUCLEUS; HAMSTERS PHODOPUS-SUNGORUS; RECEPTOR KNOCKOUT MICE; REPEAT LENGTH POLYMORPHISM; AUTISM SPECTRUM DISORDERS; BRIGHT LIGHT TREATMENT; ANXIETY-LIKE BEHAVIORS; INDUCED PHASE-SHIFTS; GENE C-FOS AB The serotonin and circadian systems are principal regulatory networks of the brain. Each consists of a unique set of neurons that make widespread neural connections and a defined gene network of transcriptional regulators and signaling genes that subserve serotonergic and circadian function at the genetic level. These master regulatory networks of the brain are extensively intertwined, with reciprocal circuit connections, expression of key genetic elements for serotonin signaling in clock neurons and expression of key clock genes in serotonergic neurons. The reciprocal connections of the serotonin and circadian systems likely have importance for neurobehavioral disorders, as suggested by their convergent contribution to a similar range of mood disorders including seasonal affective disorder (SAD), bipolar disorder, and major depression, and as suggested by their overlapping relationship with the developmental disorder, autism spectrum disorder. Here we review the neuroanatomical and genetic basis for serotonin-circadian interactions in the brain, their potential relationship with neurobehavioral disorders, and recent work examining the effects on the circadian system of genetic perturbation of the serotonergic system as well as the molecular and behavioral effects of developmental imprinting of the circadian system with perinatal seasonal light cycles. (C) 2011 Published by Elsevier Ltd on behalf of IBRO. C1 [Resuehr, H. E. S.; McMahon, D. G.] Vanderbilt Univ, Dept Biol Sci, Nashville, TN 37235 USA. [Ciarleglio, C. M.; Resuehr, H. E. S.; McMahon, D. G.] Vanderbilt Univ, Silvio O Conte Ctr Neurosci Res, Nashville, TN 37235 USA. [Ciarleglio, C. M.; Resuehr, H. E. S.; McMahon, D. G.] Vanderbilt Univ, Vanderbilt Brain Inst, Nashville, TN 37235 USA. RP McMahon, DG (reprint author), Vanderbilt Univ, Dept Biol Sci, VU Stn B,Box 35-1634, Nashville, TN 37235 USA. EM douglas.g.mcmahon@vanderbilt.edu RI Ciarleglio, Christopher/D-8463-2013 OI Ciarleglio, Christopher/0000-0002-8490-8715 FU NIMH [P50 MH078028] FX The authors would like to thank the Vanderbilt Laboratory for Murine Neurobehavior and its staff. This work was supported by NIMH P50 MH078028 (D.G.M. and R. Blakely). 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Here we review three examples from our recent studies where genetic changes in SERT, identified or engineered, have led to new models, findings, and theories that cast light on new dimensions of 5-HT action in the CNS and periphery. First, we review our work to identify specific residues through which SERT recognizes antagonists, and the conversion of this knowledge to the creation of mice lacking high-affinity antidepressant and cocaine sensitivity. Second, we discuss our studies of functional coding variation in SERT that exists in commonly used strains of inbred mice, and how this variation is beginning to reveal novel 5-HT-associated phenotypes. Third, we review our identification and functional characterization of multiple, hyperactive SERT coding variants in subjects with autism. 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The aim of this paper is to provide a systematic review of efficacy and safety of exogenous melatonin for treating disordered sleep in individuals with ASD. We performed a Pubmed (R) documentary search enlarged by a manual review of references, which finally supplied 12 citations (4 case reports, 3 retrospective studies, 2 open-label clinical trials, and 3 placebo-controlled trials). As a whole, we found that the literature supports the existence of a beneficial effect of melatonin on sleep in individuals with ASD, with only few and minor side effects. However, considering the small number of studies and their methodological limits, these conclusions cannot yet be regarded as evidence-based. Randomized controlled trials and long-term follow-up data are still lacking to better assess efficacy and safety of exogenous melatonin for disordered sleep in individuals with ASD. (C) 2011 Elsevier Ltd. All rights reserved. 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PD DEC PY 2011 VL 26 IS 8 BP 790 EP 791 DI 10.1093/arclin/acr068 PG 2 WC Psychology, Clinical; Psychology SC Psychology GA 849UX UT WOS:000297151900010 ER PT J AU Turner, JR Ortinski, PI Sherrard, RM Kellar, KJ AF Turner, Jill R. Ortinski, Pavel I. Sherrard, Rachel M. Kellar, Kenneth J. TI Cerebellar Nicotinic Cholinergic Receptors are Intrinsic to the Cerebellum: Implications for Diverse Functional Roles SO CEREBELLUM LA English DT Article DE Nicotinic receptor; Cerebellum; Lesion; Rat; Immunoprecipitation; Electrophysiology ID RAT-BRAIN; ACETYLCHOLINE-RECEPTORS; GRANULE CELLS; HETEROMERIC SUBTYPES; EXPRESSION; AUTISM; CORTEX; ABNORMALITIES; INHIBITION; ACTIVATION AB Although recent studies have delineated the specific nicotinic subtypes present in the mammalian cerebellum, very little is known about their location or function within the cerebellum. This is of increased interest since nicotinic receptors (nAChRs) in the cerebellum have recently been implicated in the pathology of autism spectrum disorders. To begin to better understand the roles of these heteromeric nAChRs in the cerebellar circuitry and their therapeutic potential as targets for drug development, we used various chemical and stereotaxic lesion models in conjunction with slice electrophysiology to examine how specific heteromeric nAChR subtypes may influence the surrounding cerebellar circuitry. Using subunit-specific immunoprecipitation of radiolabeled nAChRs in the cerebella following N-(2-chloroethyl)-N-ethyl-2-bromobenzylamine hydrochloride, p-chloroamphetamine, and pendunculotomy lesions, we show that most, if not all, cerebellar nicotinic receptors are present in cells within the cerebellum itself and not in extracerebellar afferents. Furthermore, we demonstrate that the beta 4-containing, but not the beta 2-containing, nAChRs intrinsic to the cerebellum can regulate inhibitory synaptic efficacy at two major classes of cerebellar neurons. These tandem findings suggest that nAChRs may present a potential drug target for disorders involving the cerebellum. C1 [Turner, Jill R.; Kellar, Kenneth J.] Georgetown Univ, Dept Pharmacol, Washington, DC 20057 USA. [Turner, Jill R.; Ortinski, Pavel I.; Kellar, Kenneth J.] Georgetown Univ, Interdisciplinary Program Neurosci, Washington, DC 20057 USA. [Ortinski, Pavel I.] Georgetown Univ, Dept Physiol & Biophys, Washington, DC 20057 USA. [Sherrard, Rachel M.] Univ Western Australia, Sch Anat & Human Biol, Dev Neuroplast Lab, Crawley, Australia. [Sherrard, Rachel M.] Univ Paris 06, Neurobiol Proc Adaptatifs UMR7102, F-75005 Paris, France. RP Kellar, KJ (reprint author), Georgetown Univ, Dept Pharmacol, Washington, DC 20057 USA. EM kellark@georgetown.edu RI Turner, Jill/E-5678-2014 FU NIH [DA012976, NIH-T32-NS41218] FX We thank Dr. Stefano Vicini for helpful discussions about the data presented here. We also thank Drs. Scott Rogers and Lorise Gahring (University of Utah, USA) and Drs. Barry Wolfe and Robert Yasuda (Georgetown University, USA) for providing us with antisera to several nicotinic receptor subunits. This study was supported by NIH grant DA012976 and NIH Training grant NIH-T32-NS41218. 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Using functional neuroimaging, we investigated neural responses to social and nonsocial visual scenes in a large sample of participants (n = 48) who varied on an individual difference measure assessing empathy and mentalizing (i.e., empathizing). Compared with other scene categories, viewing natural social scenes activated regions associated with social cognition (e.g., dorsomedial prefrontal cortex and temporal poles). Moreover, activity in these regions during social scene viewing was strongly correlated with individual differences in empathizing. These findings offer neural evidence that observers spontaneously engage in social cognition when viewing complex social material but that the degree to which people do so is mediated by individual differences in trait empathizing. C1 [Wagner, Dylan D.; Kelley, William M.; Heatherton, Todd F.] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA. 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A deficit in the ability to express and understand emotions has often been hypothesized to be an important correlate of such impairments. Little is known about individuals with ASD's ability to sense emotions conveyed by nonsocial stimuli such as music. Music has been found to be capable of evoking and conveying strong and consistent positive and negative emotions in healthy subjects. The ability to process perceptual and emotional aspects of music seems to be maintained in ASD. Individuals with ASD and neurotypical (NT) controls underwent a single functional magnetic resonance imaging (fMRI) session while processing happy and sad music excerpts. Overall, fMRI results indicated that while listening to both happy and sad music, individuals with ASD activated cortical and subcortical brain regions known to be involved in emotion processing and reward. 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Object recognition needs to be tolerant, or invariant, with respect to changes in object position, size, and view. In monkeys and humans, a key area for recognition is the anterior inferotemporal cortex (ITa). Recent neurophysiological data show that ITa cells with high object selectivity often have low position tolerance. We propose a neural model whose cells learn to simulate this tradeoff, as well as ITa responses to image morphs, while explaining how invariant recognition properties may arise in stages due to processes across multiple cortical areas. These processes include the cortical magnification factor, multiple receptive field sizes, and top-down attentive matching and learning properties that may be tuned by task requirements to attend to either concrete or abstract visual features with different levels of vigilance. The model predicts that data from the tradeoff and image morph tasks emerge from different levels of vigilance in the animals performing them. This result illustrates how different vigilance requirements of a task may change the course of category learning, notably the critical features that are attended and incorporated into learned category prototypes. The model outlines a path for developing an animal model of how defective vigilance control can lead to symptoms of various mental disorders, such as autism and amnesia. (C) 2011 Elsevier Ltd. All rights reserved. C1 [Grossberg, Stephen; Markowitz, Jeffrey; Cao, Yongqiang] Boston Univ, Ctr Adapt Syst, Dept Cognit & Neural Syst, Ctr Excellence Learning Educ Sci & Technol, Boston, MA 02215 USA. RP Grossberg, S (reprint author), Boston Univ, Ctr Adapt Syst, Dept Cognit & Neural Syst, Ctr Excellence Learning Educ Sci & Technol, 677 Beacon St, Boston, MA 02215 USA. 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Three variants with suggestive p-values <0.1 and four variants with significant p-values <0.05 were followed-up with TaqMan genotyping in a larger cohort of 204 patients and 323 control samples. The pedigree disequilibrium test was used to examine linkage and association. Analysis failed to show association with autism for any variant evaluated in both the initial screening set and the expanded cohort, suggesting that variations in the ability of the four genes studied to process and transport Hg may not play a significant role in the etiology of autism. (C) 2011 Elsevier Inc. All rights reserved. C1 [Owens, Sarah E.; Aschner, Michael] Vanderbilt Univ, Sch Med, Dept Pediat Toxicol, Nashville, TN 37232 USA. [Summar, Marshall L.; Ryckman, Kelli K.; Haines, Jonathan L.; Reiss, Sara; Summar, Samantha R.] Vanderbilt Univ, Sch Med, Ctr Human Genet Res, Nashville, TN 37232 USA. RP Summar, ML (reprint author), Childrens Natl Med Ctr, M4802,111 Michigan Ave NW, Washington, DC 20010 USA. 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The purpose of this study was to examine whether social and demographic factors play a role in receiving a diagnosis of autistic spectrum disorder (ASD) independently of symptom severity. Retrospective secondary analysis of a longitudinal UK cohort study, namely, the Avon Longitudinal Study of Parents and Children (ALSPAC). With the severity of autistic traits held constant, boys were more likely to receive an ASD diagnosis than girls. Younger mothers and mothers of first-born children were significantly less likely to have children diagnosed with ASD. Maternal depression before and around the time of their children's autistic difficulties was associated with lack of diagnosis. The study provides evidence that social as well as biological factors can influence whether children are brought to the clinic. C1 [Russell, Ginny] Univ Exeter, ESRC Ctr Genom Soc, Exeter, Devon, England. [Steer, Colin; Golding, Jean] Univ Bristol, Ctr Child & Adolescent Hlth, Bristol, Avon, England. RP Russell, G (reprint author), Univ Exeter, ESRC Ctr Genom Soc, Exeter, Devon, England. EM g.russell@ex.ac.uk FU Medical Research Council; Economic and Social Research Council FX We are extremely grateful to all the families who took part in this study, the midwives for their help in recruiting them, and the whole ALSPAC team, which includes interviewers, computer and laboratory technicians, clerical workers, research scientists, volunteers, managers, receptionists and nurses. The UK Medical Research Council, the Wellcome Trust and the University of Bristol currently provide core support for ALSPAC. The work of the first author was specifically funded by the Medical Research Council and the Economic and Social Research Council. 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Measures on child's anxiety using the Spence Child Anxiety Scale-Child (SCAS-C) and the Clinical Global Impression-Severity scale (CGI-S) were administered at pre-, post-treatment, and follow-ups (3- and 6-month). Children in both programs showed significantly lower levels of generalized anxiety and total anxiety symptoms at 6-month follow-up on SCAS-C. Clinician ratings on the CGI-S demonstrated an increase in the percentage of participants rated as "Normal" and "Borderline" for both programs. Findings from the present study suggest factors such as regular sessions in a structured setting, consistent therapists, social exposure and the use of autism-friendly strategies are important components of an effective framework in the management of anxiety in children and adolescents with ASD. C1 [Sung, Min] Child Guidance Clin, Singapore 168937, Singapore. [Sung, Min; Ooi, Yoon Phaik; Goh, Tze Jui; Pathy, Pavarthy; Fung, Daniel S. S.] Inst Mental Hlth, Singapore, Singapore. 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EM spence@childrens.harvard.edu NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1040-8703 J9 CURR OPIN PEDIATR JI CURR. OPIN. PEDIATR. PD DEC PY 2011 VL 23 IS 6 BP 607 EP 608 DI 10.1097/MOP.0b013e32834cbb31 PG 2 WC Pediatrics SC Pediatrics GA 844ZX UT WOS:000296793700006 PM 21970831 ER PT J AU Maski, KP Jeste, SS Spence, SJ AF Maski, Kiran P. Jeste, Shafali S. Spence, Sarah J. TI Common neurological co-morbidities in autism spectrum disorders SO CURRENT OPINION IN PEDIATRICS LA English DT Review DE autism; co-morbidities; epilepsy; movement disorders; sleep ID EPILEPTIFORM EEG ABNORMALITIES; TYPICAL DEVELOPMENT; ASPERGERS-DISORDER; YOUNG-CHILDREN; SLEEP PROBLEMS; HANDWRITING IMPAIRMENTS; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY; GAIT FUNCTION; EPILEPSY AB Purpose of review Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders associated with various co-morbidities. Neurological co-morbidities include motor impairments, epilepsy, and sleep dysfunction. These impairments have been receiving more attention recently, perhaps because of their significant impact on the behavior and cognitive function of children with ASDs. Here, we review the epidemiology, etiology, and clinical approach to these neurological co-morbidities and highlight future research directions. Recent findings Motor impairments include stereotypies, motor delays, and deficits, such as dyspraxia, incoordination, and gait problems. Sleep dysfunction typically presents as difficulty with sleep onset and prolonged awakenings during the night. Recent data suggest that abnormalities in melatonin may affect sleep and may be a potential treatment target. There is no classic epilepsy syndrome associated with ASDs. Intellectual disability, syndromic autism, and female sex are specific risk factors. Recent research has focused on identifying the overlapping pathways between these neurological co-morbidities and the core deficits in ASDs, which may have direct and powerful implications for treatment and prognosis. Summary Motor impairment, epilepsy, and sleep dysfunction are common neurological comorbidities in ASDs. Clinicians should be aware that recognition and treatment of these issues may improve the function and outcome of children with ASDs. C1 [Maski, Kiran P.; Spence, Sarah J.] Harvard Univ, Childrens Hosp Boston, Dept Neurol, Sch Med, Boston, MA 02115 USA. [Jeste, Shafali S.] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA. RP Maski, KP (reprint author), Harvard Univ, Childrens Hosp Boston, Dept Neurol, Sch Med, 333 Longwood Ave, Boston, MA 02115 USA. EM kiran.prasad@childrens.harvard.edu FU Autism Speaks; NIMH [1K23MH094517 - 01, P30 MH089901-01]; DOD [TS100029]; NIH [7R01DC010290-03S1] FX K.P.M. receives research support from Autism Speaks.S.S.J. receives support from NIMH (1K23MH094517 - 01, PI Jeste; P30 MH089901-01, PI Geschwind) and DOD (TS100029, PI Nelson). She has received honoraria from Seaside therapeutics. S.J.S. receives grant support from the NIH (7R01DC010290-03S1 PIs Tager, Flusberg and Nelson) and the Simons Foundation. She is a member of the American Psychiatric Association's DSM 5 work group for Neurodevelopmental Disabilities and does unpaid consultant work to Autism Speaks (Autism Genetic Resource Exchange and Autism Treatment Network) and the Dup 15q Alliance. She has received honoraria from Seaside therapeutics. 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OPIN. PEDIATR. PD DEC PY 2011 VL 23 IS 6 BP 609 EP 615 DI 10.1097/MOP.0b013e32834c9282 PG 7 WC Pediatrics SC Pediatrics GA 844ZX UT WOS:000296793700007 PM 21970828 ER PT J AU Dawson, G Burner, K AF Dawson, Geraldine Burner, Karen TI Behavioral interventions in children and adolescents with autism spectrum disorder: a review of recent findings SO CURRENT OPINION IN PEDIATRICS LA English DT Review DE aggression; anxiety; autism; behavioral interventions; parent-mediated interventions; social skills training ID RANDOMIZED CONTROLLED-TRIAL; HIGH-FUNCTIONING AUTISM; ANXIETY; INDIVIDUALS; TODDLERS AB Purpose of review The study provides an overview of recent studies on behavioral interventions for children and adolescents with autism spectrum disorder (ASD). Recent findings Recent reviews of the effectiveness of early intensive behavioral intervention (EIBI) conclude that EIBI can improve language and cognitive skills. The first randomized controlled trial (RCT) of a comprehensive early intervention for toddlers with ASD demonstrated gains in language, cognitive abilities, and adaptive behavior. Targeted, brief behavioral interventions are efficacious for improving social communication in young children with ASD. Parents can be taught to deliver behavioral interventions, which are associated with improvements in parent-child interaction; effects on child outcome, however, have been mixed. Several studies show that social skills interventions are efficacious for improving peer relationships and social competence. Behavioral interventions are also effective for reducing anxiety symptoms and aggression. Medication combined with behavioral intervention was found to be more effective for reducing aggression than medication alone. Summary Behavioral interventions are effective for improving language, cognitive abilities, adaptive behavior, and social skills, and reducing anxiety and aggression. 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OPIN. PEDIATR. PD DEC PY 2011 VL 23 IS 6 BP 616 EP 620 DI 10.1097/MOP.0b013e32834cf082 PG 5 WC Pediatrics SC Pediatrics GA 844ZX UT WOS:000296793700008 PM 22037220 ER PT J AU Anagnostou, E Hansen, R AF Anagnostou, Evdokia Hansen, Robin TI Medical treatment overview: traditional and novel psycho-pharmacological and complementary and alternative medications SO CURRENT OPINION IN PEDIATRICS LA English DT Review DE autism; complementary and alternative medicine; medication; pharmacology ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS; PLACEBO-CONTROLLED TRIAL; RECEPTOR GENE OXTR; DOUBLE-BLIND; BEHAVIORAL SYMPTOMS; ADOLESCENT AUTISM; CROSSOVER TRIAL; SLEEP PROBLEMS; CHILDREN AB Purpose of review Up to 35% of children and youth with autism spectrum disorder (ASD) receive at least one psychotropic medication. 50-70% of this population also receives biologically based complementary and alternative medicine (CAM). The data evaluating such practices are being reviewed. Recent findings There are accumulating data to suggest that atypical antipsychotics and stimulants may be useful for the treatment of irritability and hyperactivity in children and youth with ASD. The data for the use of selective serotonin reuptake inhibitors are less promising. New avenues of pharmacologic research targeting molecular targets identified by genomics, animal models and neuropathology are being evaluated. Areas of interest include glutamate/gamma-aminobutyric acid systems, neuropeptides such as oxytocin, and immune dysfunction, among others. In the case of biologically based CAM, a few compounds have been shown to be well tolerated, although efficacy is still being evaluated, such as melatonin, certain vitamins, and omega 3 fatty acids. Others have safety concerns without demonstrated efficacy, such as chelation therapies. Summary Accumulating data suggest a series of existing medications may be useful in ASD and large randomized clinical trials are necessary to evaluate safety and efficacy of both pharmaceuticals and alternative treatments. C1 [Anagnostou, Evdokia] Univ Toronto, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada. [Anagnostou, Evdokia] Univ Toronto, Dept Pediat, Toronto, ON M4G 1R8, Canada. [Hansen, Robin] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA. [Hansen, Robin] Univ Calif Davis, Dept Pediat, Sacramento, CA 95817 USA. RP Anagnostou, E (reprint author), Univ Toronto, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada. EM Eanagnostou@hollandbloorview.ca FU Department of Defense (DoD); Canadian Institute of Health Research (CIHR); Autism Speaks; National Centers of Excellence (NeuroDevNet); Alva Foundation; Physician services incorporated (PSI); National Institutes for Health (NIEHS); Department for Health and Human Services Administration for Children and Families; Environmental Protection Agency FX E.A. has received grant support from the Department of Defense (DoD), Canadian Institute of Health Research (CIHR), Autism Speaks, National Centers of Excellence (NeuroDevNet), Alva Foundation, and Physician services incorporated (PSI), and has consulted without fees to Neuropharm, Proximagen and NOVARTIS.R.H. has received grant support from the National Institutes for Health (NIEHS), the Department for Health and Human Services Administration for Children and Families, the Environmental Protection Agency, and Autism Speaks. 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OPIN. PEDIATR. PD DEC PY 2011 VL 23 IS 6 BP 621 EP 627 DI 10.1097/MOP.0b013e32834cba3e PG 7 WC Pediatrics SC Pediatrics GA 844ZX UT WOS:000296793700009 PM 22001766 ER PT J AU McPartland, JC Coffman, M Pelphrey, KA AF McPartland, James C. Coffman, Marika Pelphrey, Kevin A. TI Recent advances in understanding the neural bases of autism spectrum disorder SO CURRENT OPINION IN PEDIATRICS LA English DT Review DE autism spectrum disorder; electroencephalography; electrophysiology; event-related potentials; functional magnetic resonance imaging; magnetoencephalography; social neuroscience; typically developing ID EVENT-RELATED POTENTIALS; HIGH-FUNCTIONING AUTISM; HIGH-RESOLUTION EEG; FUSIFORM FACE AREA; BIOLOGICAL MOTION; WHITE-MATTER; CORTICAL CONNECTIVITY; SOCIAL-PERCEPTION; ASPERGER-SYNDROME; BRAIN MECHANISMS AB Purpose of review This article reviews current work investigating the neural bases of autism spectrum disorder (ASD) within the discipline of electrophysiological brain research. The manuscript focuses primarily on advances in understanding related to social information processing and interconnectivity among brain systems in ASD. Recent findings Recent research indicates anomalous function of social brain regions in ASD and highlights the specificity of processing problems to these systems. Atypical activity in this circuitry may reflect genetic susceptibility for ASD, with increased activity in compensatory areas marking the distinction between developing and not developing the disorder. Advances in understanding connectivity in ASD are highlighted by novel work providing initial evidence of atypical interconnectivity in infancy. Summary Emerging understanding of neural dysfunction in ASD indicates consistent but heterogeneous dysfunction across brain systems in ASD. Key objectives for the immediate future include the use of multimethod approaches that encompass temporal and spatial imaging; behavioral phenotyping carried out in developmental context to reveal subgroups defined uniquely by trajectories; and individual-specific profiles of behavioral performance and brain function. C1 [McPartland, James C.; Coffman, Marika; Pelphrey, Kevin A.] Yale Univ, Yale Child Study Ctr, New Haven, CT 06510 USA. RP McPartland, JC (reprint author), Yale Univ, Yale Child Study Ctr, 230 S Frontage Rd, New Haven, CT 06510 USA. EM james.mcpartland@yale.edu FU NIMH [K23MH086785, R21MH091309, K01MH071284]; NARSAD FX This work was supported by NIMH K23MH086785 (J.C.M.), NIMH R21MH091309 (J.C.M.), NARSAD Atherton Young Investigator Award (J.C.M.), and NIMH K01MH071284 (K.A.P.). 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Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are both Mendelian disorders that present with autism, epilepsy, and intellectual disability, in which animal model work has been directly translated into clinical treatment trials currently underway. Here, we review the recent advances in our understanding of RTT and TSC pathogenesis and signaling pathways that may be targeted for novel treatments. Recent findings Animal models generated by engineering mutant forms of the mouse homologs of human genes involved in RTT and TSC have allowed dissection of the molecular pathology. They have further acted as in-vivo assays of potential therapeutic strategies that have translated to human clinical trials. Summary Single-gene disorders associated with neurodevelopmental disorders provide powerful model systems to study the roles of individual molecules and associated signaling pathways in the genesis of autism, epilepsy, cognitive impairment, and neuropsychiatric symptoms. These diseases are leading to disease-modifying human therapies that may eventually translate to wider therapeutic strategies for autism. C1 [Khwaja, Omar S.; Sahin, Mustafa] Harvard Univ, Sch Med, Dept Neurol, Childrens Hosp Boston, Boston, MA 02115 USA. [Sahin, Mustafa] Harvard Univ, Sch Med, FM Kirby Neurobiol Ctr, Childrens Hosp Boston, Boston, MA USA. RP Sahin, M (reprint author), 300 Longwood Ave,CLSB 13074, Boston, MA 02115 USA. EM mustafa.sahin@childrens.harvard.edu FU Harvard Catalyst; International Rett Syndrome Foundation; Autism Speaks; Children's Hospital Boston [NCT01253317]; NIH [RR019478, HD061222, R01 NS058956]; Novartis; Tuberous Sclerosis Alliance [NCT01289912]; Tuberous Sclerosis Alliance; John Merck Fund; Nancy Lurie Marks Family Foundation; Manton Family Foundation FX O.S.K. is the PI of a clinical trial funded by the Harvard Catalyst, the International Rett Syndrome Foundation, Autism Speaks and Children's Hospital Boston Translational Research Program (NCT01253317). Research in Dr Khwaja's group related to this manuscript is funded by NIH U54 grants RR019478 and HD061222. M. S. is the PI of a clinical trial funded by Novartis, Autism Speaks and Tuberous Sclerosis Alliance (NCT01289912). M. S. served as a consultant and site-PI for Novartis. Research in Dr Sahin's laboratory related to this manuscript is funded by the NIH R01 NS058956, Tuberous Sclerosis Alliance, Autism Speaks, John Merck Fund, Nancy Lurie Marks Family Foundation, Children's Hospital Boston Translational Research Program and the Manton Family Foundation. 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Herein, we have synthesized F-2-dihomo-isoprostanes (F-2-dihomo-IsoPs), peroxidation products from adrenic acid (22:4 n-6), a known component of myelin, and tested the potential value of F-2-dihomo-IsoPs as a novel disease marker and its relationship with clinical presentation and disease progression. F-2-dihomo-IsoPs were determined by gas chromatography/negative-ion chemical ionization tandem mass spectrometry. Newly synthesized F-2-dihomo-IsoP isomers [ent-7(RS)-F-2t-dihomo-IsoP and 17-F-2t-dihomo-IsoP] were used as reference standards. The measured ions were the product ions at m/z 327 derived from the [M-181](-) precursor ions (m/z 597) produced from both the derivatized ent-7(RS)-F-2t-dihomo-IsoP and 17-F-2t-dihomo-IsoP. 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C1 [De Felice, Claudio] Azienda Osped Univ Senese, Univ Hosp, Neonatal Intens Care Unit, Siena, Italy. [Hayek, Joussef] Azienda Osped Univ Senese, Univ Hosp, Child Neuropsychiat Unit, Siena, Italy. [Signorini, Cinzia; Ciccoli, Lucia; Leoncini, Silvia; Pecorelli, Alessandra] Univ Siena, Dept Pathophysiol Expt Med & Publ Hlth, I-53100 Siena, Italy. [Durand, Thierry; Oger, Camille; Guy, Alexandre; Bultel-Ponce, Valerie; Galano, Jean-Marie] UMR 5247 CNRS UM I UM II, Inst Biomol Max Mousseron, Montpellier, France. [D'Esposito, Maurizio; Filosa, Stefania] CNR, Inst Genet & Biophys Adriano Buzzati Traverso, I-80125 Naples, Italy. [Valacchi, Giuseppe] Univ Ferrara, Dept Evolutionary Biol, I-44100 Ferrara, Italy. [D'Esposito, Maurizio; Filosa, Stefania] Ist Neurol Mediterraneo Neuromed, Pozzilli, Italy. [Valacchi, Giuseppe] Kyung Hee Univ, Dept Food & Nutr, Seoul, South Korea. RP De Felice, C (reprint author), Azienda Osped Univ Senese, Univ Hosp, Neonatal Intens Care Unit, Siena, Italy. EM geniente@gmail.com FU Nuovi approcci terapeutici nella sindrome di Rett, Siena, Italy [Orphan_0108]; University of Montpellier I; INRA [AlimH-2008-2010] FX This work was partially supported by grants from the Toscana Life Sciences (Orphan_0108 Call; title: "Nuovi approcci terapeutici nella sindrome di Rett"), Siena, Italy. T.D. is grateful to the University of Montpellier I (BQR-2008) and INRA (AlimH-2008-2010) for financial support. 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Development and Application of a Mathematical Assessment Model SO ANNALS OF EPIDEMIOLOGY LA English DT Article DE Autistic Disorder; Prevalence; Pregnancy; Risk Factors ID SPECTRUM DISORDERS; BIRTH-WEIGHT; OBSTETRIC COMPLICATIONS; INFANTILE-AUTISM; NEONATAL FACTORS; UNITED-STATES; CHILDREN; POPULATION; DIAGNOSIS; AGE AB BACKGROUND: A 57% increase in the U.S. prevalence of autism spectrum disorders (ASD) for 8-year-old children born in 1994 versus 1998 was recently reported. METHODS: To quantify the possible contributions of given risk/predictive factors on the recent ASD prevalence increase, we formulated a mathematical model based on the baseline risk factor prevalence (RFP), the proportionate change in RFP (cRFP), and the magnitude of the association between the risk factor and ASD [estimated relative risk (RR)]. We applied this model to several pregnancy-related factors (preterm, very preterm, low and very low birth weight, multiple birth, cesarean delivery, breech presentation, and assisted reproductive technology use). RFP and cRFP estimates for each factor were obtained from U.S. population-based surveillance datasets. Estimated RRs were obtained from a series of systematic literature reviews. RESULTS: We estimate that each risk factor examined, alone or in various combinations, accounted for a very small proportion (< 1%) of the ASD increase. Additionally, hypothetical scenarios indicate REP, cRFP, and RR all need to be sizable for a risk factor to appreciably influence ASD prevalence. CONCLUSIONS: Thus, although various pregnancy factors have been found to be associated with ASDs, the contribution of many of these factors to the recently observed ASD increase is likely minimal. Ann Epidemiol 2011;21:930-945. Published by Elsevier Inc. C1 [Schieve, Laura A.; Rice, Catherine; Devine, Owen; Schendel, Diana; Braun, Kim van Naarden] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA. [Maenner, Matthew J.; Durkin, Maureen] Univ Wisconsin, Waisman Ctr, Sch Med & Publ Hlth, Madison, WI 53705 USA. [Lee, Li-Ching] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA. [Fitzgerald, Robert] Washington Univ, Sch Med, St Louis, MO USA. [Wingate, Martha S.] Univ Alabama Birmingham, Sch Publ Hlth, Birmingham, AL 35294 USA. [Pettygrove, Sydney] Univ Arizona, Mel & Enid Zuckerman Coll Publ Hlth, Tucson, AZ USA. RP Schieve, LA (reprint author), Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, MS E-86,1600 Clifton Rd, Atlanta, GA 30333 USA. 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PD DEC PY 2011 VL 21 IS 12 BP 930 EP 945 DI 10.1016/j.annepidem.2011.08.009 PG 16 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 844NX UT WOS:000296755400009 PM 22000328 ER PT J AU Uddin AF Uddin TI Multivariate Searchlight Classification of Structural Magnetic Resonance Imaging in Children and Adolescents with Autism (vol 70, pg 833, 2011) SO BIOLOGICAL PSYCHIATRY LA English DT Correction CR UDDIN, 2011, BIOL PSYCHIAT, V70, P833 NR 1 TC 0 Z9 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0006-3223 J9 BIOL PSYCHIAT JI Biol. Psychiatry PD DEC 1 PY 2011 VL 70 IS 11 BP 1097 EP 1097 DI 10.1016/j.biopsych.2011.09.021 PG 1 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 842FL UT WOS:000296578800015 ER PT J AU Catarino, A Churches, O Baron-Cohen, S Andrade, A Ring, H AF Catarino, Ana Churches, Owen Baron-Cohen, Simon Andrade, Alexandre Ring, Howard TI Atypical EEG complexity in autism spectrum conditions: A multiscale entropy analysis SO CLINICAL NEUROPHYSIOLOGY LA English DT Article DE Autism spectrum conditions; Multiscale entropy; Complexity; Face perception; Electroencephalography ID HIGH-FUNCTIONING AUTISM; PHYSIOLOGICAL TIME-SERIES; ALZHEIMERS-DISEASE; SAMPLE ENTROPY; BRAIN CONNECTIVITY; ASPERGERS-SYNDROME; CHILDREN; DISORDER; MOTOR; ABNORMALITIES AB Objective: Intrinsic complexity subserves adaptability in biological systems. One recently developed measure of intrinsic complexity of biological systems is multiscale entropy (MSE). Autism spectrum conditions (ASC) have been described in terms of reduced adaptability at a behavioural level and by patterns of atypical connectivity at a neural level. Based on these observations we aimed to test the hypothesis that adults with ASC would show atypical intrinsic complexity of brain activity as indexed by MSE analysis of electroencephalographic (EEG) activity. Methods: We used MSE to assess the complexity of EEG data recorded from 15 participants with ASC and 15 typical controls, during a face and chair matching task. Results: Results demonstrate a reduction of EEG signal complexity in the ASC group, compared to typical controls, over temporo-parietal and occipital regions. No significant differences in EEG power spectra were observed between groups, indicating that changes in complexity values are not a reflection of changes in EEG power spectra. Conclusions: The results are consistent with a model of atypical neural integrative capacity in people with ASC. Significance: Results suggest that EEG complexity, as indexed by MSE measures, may also be a marker for disturbances in task-specific processing of information in people with autism. (C) 2011 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved. C1 [Catarino, Ana; Andrade, Alexandre] Univ Lisbon, Fac Sci, Inst Biophys & Biomed Engn, P-1749016 Lisbon, Portugal. [Catarino, Ana; Churches, Owen; Ring, Howard] Univ Cambridge, Dept Psychiat, Cambridge Intellectual & Dev Disabil Res Grp, Cambridge CB2 8AH, England. [Churches, Owen; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England. [Churches, Owen] Univ S Australia, Adelaide, SA 5001, Australia. RP Catarino, A (reprint author), CIDDRG, Douglas House,18B Trumpington Rd, Cambridge CB2 8AH, England. EM ac655@medschl.cam.ac.uk RI Andrade, Alexandre/K-6236-2012 OI Andrade, Alexandre/0000-0002-8107-7338 FU National Alliance for Autism Research (USA); Medical Research Council (MRC) UK; Fundacao para a Ciencia e Tecnologia (Foundation for Science and Technology), Portugal; Cambridge Australia Trust FX This study was conducted in association with the NIHR Collaboration in Leadership in Applied Health Research and Care (CLA-HRC) for Cambridgeshire and Peterborough NHS Foundation Trust. This study was supported by a grant to H. Ring from the National Alliance for Autism Research (USA) and a grant to S. Baron-Cohen from the Medical Research Council (MRC) UK. A. Catarino was supported by a grant from the Fundacao para a Ciencia e Tecnologia (Foundation for Science and Technology), Portugal. O. Churches was supported by the Cambridge Australia Trust. We would like to thank Dr. Madalena Costa, for her helpful comments regarding data analysis and to all our participants for helping us in this study. Finally, we are grateful to Dr Lydia Luke and Dr Meng-Chuan Lai for helpful discussions. 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Neurophysiol. PD DEC PY 2011 VL 122 IS 12 BP 2375 EP 2383 DI 10.1016/j.clinph.2011.05.004 PG 9 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 842GL UT WOS:000296583000008 PM 21641861 ER PT J AU Cauda, F Geda, E Sacco, K D'Agata, F Duca, S Geminiani, G Keller, R AF Cauda, Franco Geda, Elisabetta Sacco, Katiuscia D'Agata, Federico Duca, Sergio Geminiani, Giuliano Keller, Roberto TI Grey matter abnormality in autism spectrum disorder: an activation likelihood estimation meta-analysis study SO JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY LA English DT Article ID VOXEL-BASED MORPHOMETRY; NEUROANATOMY; CEREBELLUM; PATTERNS; EPILEPSY; GRAY AB Background Autism spectrum disorder (ASD) is defined on a clinical basis by impairments in social interaction, verbal and non-verbal communication, and repetitive or stereotyped behaviours. Voxel based morphometry (VBM), a technique that gives a probabilistic measure of local grey matter (GM) and white matter concentration, has been used to study ASD patients: modifications in GM volume have been found in various brain regions, such as the corpus callosum, brainstem, amygdala, hippocampus and cerebellum. However, the findings are inconsistent with respect to the specific localisation and direction of GM modifications, and no paper has attempted to statistically summarise the results available in the literature. Methods The present study is a quantitative meta-analysis of the current VBM findings aimed at delineating the cortical regions with consistently increased or reduced GM concentrations. The activation likelihood estimation (ALE) was used, which is a quantitative voxel based meta-analysis method which can be used to estimate consistent activations across different imaging studies. Co-occurrence statistics of a PubMed query were generated, employing 'autism spectrum disorder' as the neuroanatomical lexicon. Results Significant ALE values related to GM increases were observed bilaterally in the cerebellum, in the middle temporal gyrus, in the right anterior cingulate cortex, caudate head, insula, fusiform gyrus, precuneus and posterior cingulate cortex, and in the left lingual gyrus. GM decreases were observed bilaterally in the cerebellar tonsil and inferior parietal lobule, in the right amygdala, insula, middle temporal gyrus, caudate tail and precuneus and in the left precentral gyrus. C1 [Cauda, Franco; Sacco, Katiuscia; D'Agata, Federico; Geminiani, Giuliano] Univ Turin, Dept Psychol, I-10123 Turin, Italy. [Cauda, Franco; Geda, Elisabetta; Sacco, Katiuscia; D'Agata, Federico; Duca, Sergio; Geminiani, Giuliano] Koelliker Hosp, CCS FMRI, Turin, Italy. [D'Agata, Federico] AOU San Giovanni Battista, Dept Neurosci, Turin, Italy. [Keller, Roberto] ASL To2, Adult Autism Ctr, Turin, Italy. RP Sacco, K (reprint author), Univ Turin, Dept Psychol, Via Po 14, I-10123 Turin, Italy. EM katiuscia.sacco@unito.it RI Cauda, Franco /G-5021-2010; Sacco, Katiuscia/J-2133-2012 OI Cauda, Franco /0000-0003-1526-8475; Sacco, Katiuscia/0000-0002-9660-5236 FU Regione Piemonte, Scienze Umane e Sociali [4/2006] FX This study was supported by Regione Piemonte, Scienze Umane e Sociali 2008, Regional Law No 4/2006. 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Psychopathol. Behav. Assess. PD DEC PY 2011 VL 33 IS 4 BP 459 EP 469 DI 10.1007/s10862-011-9259-0 PG 11 WC Psychology, Clinical SC Psychology GA 838KV UT WOS:000296290300006 ER PT J AU Olsen, L Hansen, T Djurovic, S Haastrup, E Albrecthsen, A Hoeffding, LKE Secher, A Gustafsson, O Jakobsen, KD Nielsen, FC Ullum, H Morken, G Agartz, I Melle, I Gether, U Andreassen, OA Werge, T AF Olsen, Line Hansen, Thomas Djurovic, Srdjan Haastrup, Eva Albrecthsen, Anders Hoeffding, Louise K. E. Secher, Anna Gustafsson, Omar Jakobsen, Klaus D. Nielsen, Finn C. Ullum, Henrik Morken, Gunnar Agartz, Ingrid Melle, Ingrid Gether, Ulrik Andreassen, Ole A. Werge, Thomas TI Copy number variations in affective disorders and meta-analysis SO PSYCHIATRIC GENETICS LA English DT Article DE bipolar disorder; copy number variation; deletion; duplication; major depression; unipolar depression ID AUTISM SPECTRUM DISORDER; BIPOLAR-DISORDER; SCHIZOPHRENIA; VARIANTS; ASSOCIATION; GENES; RARE; RELIABILITY; CHROMOSOMES; LANDSCAPE AB In two recent studies 10 copy number variants (CNV) were found to be overrepresented either among patients suffering from affective disorders in an Amish family or in the Wellcome Trust Case-Control Consortium study. Here, we investigate if these variants are associated with affective disorders in a combined analysis of three case-control samples from Denmark, Norway and Iceland. A total of 1897 cases (n=1223 unipolar and n=463 bipolar) and 11 231 controls were analyzed for CNVs at the 10 genomic loci, but we found no combined association between these CNVs and affective disorders. Psychiatr Genet 21: 319-322 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins. Psychiatric Genetics 2011, 21: 319-322 C1 [Olsen, Line; Hansen, Thomas; Hoeffding, Louise K. E.; Secher, Anna; Jakobsen, Klaus D.; Werge, Thomas] Mental Hlth Ctr Sct Hans, Inst Biol Psychiat, Roskilde, Denmark. [Olsen, Line; Hansen, Thomas; Albrecthsen, Anders; Secher, Anna; Jakobsen, Klaus D.; Gether, Ulrik] Mol Neuropharmacol Grp, Copenhagen N, Denmark. [Olsen, Line; Hansen, Thomas; Albrecthsen, Anders; Secher, Anna; Jakobsen, Klaus D.; Gether, Ulrik] Ctr Pharmacogen, Dept Neurosci & Pharmacol, Copenhagen N, Denmark. [Haastrup, Eva; Ullum, Henrik] Rigshosp, Copenhagen Univ Hosp, Dept Clin Immunol, DK-2100 Copenhagen, Denmark. [Nielsen, Finn C.] Rigshosp, Copenhagen Univ Hosp, Dept Clin Biochem, DK-2100 Copenhagen, Denmark. [Djurovic, Srdjan; Gustafsson, Omar; Agartz, Ingrid; Andreassen, Ole A.] Oslo Univ Hosp, TOP Project, Dept Mol Genet, Oslo, Norway. [Djurovic, Srdjan; Gustafsson, Omar; Agartz, Ingrid; Melle, Ingrid; Andreassen, Ole A.] Univ Oslo, Inst Psychiat, N-0316 Oslo, Norway. [Agartz, Ingrid] Diakonhjemmet Hosp, Dept Psychiat Res, Oslo, Norway. [Morken, Gunnar] St Olavs Hosp, Oestmarka Psychiat Dept, Trondheim, Norway. [Morken, Gunnar] Norwegian Univ Technol & Sci, Inst Neurosci, Trondheim, Norway. [Djurovic, Srdjan; Gustafsson, Omar; Melle, Ingrid; Andreassen, Ole A.] Oslo Univ Hosp, Dept Psychiat, Oslo, Norway. RP Hansen, T (reprint author), Copenhagen Univ Hosp, Psychiat Ctr Sct Hans, Res Inst Biol Psychiat, Boserupvej 2, DK-4000 Roskilde, Denmark. EM thomas.hansen@regionh.dk RI Hansen, Thomas/O-5965-2014 OI Hansen, Thomas/0000-0001-6703-7762 FU Danish Agency for Science, Technology and Innovation (Centre for Pharmacogenomics); Research Council of Norway [167153/v50, 163070/V50]; Norwegian South-Eastern Health Authority [1232004]; University of Oslo; Oslo University Hospital; Eli Lilly Inc. FX This study was funded by grants to Thomas Werge and Ulrik Gether from the Danish Agency for Science, Technology and Innovation (Centre for Pharmacogenomics). The Research Council of Norway supported the study (# 167153/v50, # 163070/V50) together with Norwegian South-Eastern Health Authority (# 1232004), University of Oslo and Oslo University Hospital. Eli Lilly Inc. funded parts of the genotyping of the Norwegian sample. The funding partners had no further role in study design, in the collection, analysis and interpretation of data, in the writing of the report or in the decision to submit the study for publication. 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Genet. PD DEC PY 2011 VL 21 IS 6 BP 319 EP 322 DI 10.1097/YPG.0b013e3283463deb PG 4 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA 841ZT UT WOS:000296555000007 PM 21451435 ER PT J AU Kiss, I Levy-Gigi, E Keri, S AF Kiss, Imre Levy-Gigi, Einat Keri, Szabolcs TI CD 38 expression, attachment style and habituation of arousal in relation to trust-related oxytocin release SO BIOLOGICAL PSYCHOLOGY LA English DT Article DE Oxytocin; CD38; Trust; Attachment; Skin conductance response; Autonomic arousal ID HUMAN SOCIAL-BEHAVIOR; NEURAL CIRCUITRY; INCREASES TRUST; HUMANS; VASOPRESSIN; CHALLENGE; SECRETION; AMYGDALA; STRESS; AUTISM AB Oxytocin plays an important role in human attachment, trust, social perception, memory, and fear regulation. Evidence suggests that CD38, a regulator of oxytocin release, may also be critical in these processes. The purpose of this study was to investigate the predictors of plasma oxytocin level measured after a task requiring intimate trust (secret sharing), modeling psychotherapeutic processes, and a neutral social interaction. Results revealed that peripheral CD38 expression positively predicted both trust-related and trust-unrelated oxytocin levels. In addition, habituation of arousal, as measured by skin conductance response, and attachment anxiety also emerged as predictors of oxytocin level in the trust-related condition. These results suggest that CD38 plays a general role in oxytocin secretion, whereas habituation of arousal and attachment anxiety are specifically related to situations involving intimate trust. (C) 2011 Elsevier B.V. All rights reserved. C1 [Keri, Szabolcs] Univ Szeged, Dept Physiol, Fac Med, H-6720 Szeged, Hungary. [Kiss, Imre; Keri, Szabolcs] Natl Psychiat Ctr, Budapest, Hungary. [Levy-Gigi, Einat] Rutgers State Univ, Ctr Mol & Behav Neurosci, Newark, NJ USA. 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Psychol. PD DEC PY 2011 VL 88 IS 2-3 BP 223 EP 226 DI 10.1016/j.biopsycho.2011.08.005 PG 4 WC Psychology, Biological; Behavioral Sciences; Psychology; Psychology, Experimental SC Psychology; Behavioral Sciences GA 838FA UT WOS:000296271000009 PM 21893160 ER PT J AU Osorio, A Martins, C Meins, E Martins, EC Soares, I AF Osorio, Ana Martins, Carla Meins, Elizabeth Martins, Eva Costa Soares, Isabel TI Individual and relational contributions to parallel and joint attention in infancy SO INFANT BEHAVIOR & DEVELOPMENT LA English DT Article DE Parallel attention; Joint attention; Infancy ID EMOTIONAL AVAILABILITY; LANGUAGE-DEVELOPMENT; SOCIAL COMPETENCE; AUTISM; SKILLS; COGNITION; CHILD; GAZE; COMMUNICATION; DISTRESS AB Objective: This study examined the contributions of maternal bids for joint attention, relationship quality, and infant characteristics, to individual differences in infants' parallel and joint attention. Method: Fifty-two 10-month-olds and their mothers were assessed in order to investigate concurrent predictors of infant parallel attention, responding to joint attention, and initiating joint attention. Results: Parallel attention was predicted by infants' higher mental development, low expression of negative emotionality, and maternal entertaining behaviors. Responding to joint attention was marginally predicted by total maternal bids for joint attention. Initiating joint attention was predicted by the infants' low expression of negative emotionality, as well as marginally predicted by fewer maternal teaching behaviors. Conclusion: These results further the understanding of the factors influencing infant parallel as well as joint attention. (C) 2011 Elsevier Inc. All rights reserved. C1 [Martins, Carla] Univ Minho, Sch Psychol, Dept Basic Psychol, P-4710057 Braga, Portugal. [Meins, Elizabeth] Univ Durham, Dept Psychol, Durham DH1 3LE, England. 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