FN Thomson Reuters Web of Science™ VR 1.0 PT J AU Gamez-Del-Estal, MM Contreras, I Prieto-Perez, R Ruiz-Rubio, M AF Mar Gamez-Del-Estal, M. Contreras, Israel Prieto-Perez, Rocio Ruiz-Rubio, Manuel TI Epigenetic effect of testosterone in the behavior of C. elegans. A clue to explain androgen-dependent autistic traits? SO FRONTIERS IN CELLULAR NEUROSCIENCE LA English DT Article DE testosterone; Caenorhabditis elegans; epigenetics; gentle touch; pharyngeal pumping; nhr-69; nuclear hormone receptor; Autism spectrum disorders (ASDs) ID CAENORHABDITIS-ELEGANS; HISTONE ACETYLATION; MOLECULAR-MECHANISMS; TOUCH SENSITIVITY; DEFICIENT MUTANTS; SPECTRUM DISORDER; ASPERGER SYNDROME; NERVOUS-SYSTEM; EXPRESSION; RECEPTOR AB Current research indicates that the causes of autism spectrum disorders (ASDs) are multifactorial and include both genetic and environmental factors. To date, several works have associated ASDs with mutations in genes that encode proteins involved in neuronal synapses; however other factors and the way they can interact with the development of the nervous system remain largely unknown. Some studies have established a direct relationship between risk for ASDs and the exposure of the fetus to high testosterone levels during the prenatal stage. In this work, in order to explain possible mechanisms by which this androgenic hormone may interact with the nervous system, C. elegans was used as an experimental model. We observed that testosterone was able to alter the behavioral pattern of the worm, including the gentle touch response and the pharyngeal pumping rate. This impairment of the behavior was abolished using specific RNAi against genes orthologous to the human androgen receptor gene. The effect of testosterone was eliminated in the nhr-69 (ok1926) deficient mutant, a putative ortholog of human AR gene, suggesting that this gene encodes a receptor able to interact with the hormone. On the other hand the testosterone effect remained in the gentle touch response during four generations in the absence of the hormone, indicating that some epigenetic mechanisms could be involved. Sodium butyrate, a histone deacetylase inhibitor, was able to abolish the effect of testosterone. In addition, the lasting effect of testosterone was eliminated after the dauer stage. These results suggest that testosterone may impair the nervous system function generating transgenerational epigenetic marks in the genome. This work may provide new paradigms for understanding biological mechanisms involved in ASDs traits. C1 [Mar Gamez-Del-Estal, M.; Contreras, Israel; Prieto-Perez, Rocio; Ruiz-Rubio, Manuel] Univ Cordoba, Dept Genet, Hosp Univ Reina Sofia, Inst Maimonides Invest Biomed Cordoba, E-14071 Cordoba, Spain. RP Ruiz-Rubio, M (reprint author), Univ Cordoba, Dept Genet, Campus Rabanales,Edificio Gregor Mendel C-5, E-14071 Cordoba, Spain. EM ge1rurum@uco.es FU NIH National Center for Research Resources; Consejeria de Salud [PI0197]; Junta de Andalucia Spain; CDTI (Centro para el Desarrollo Tecnologico Industrial), Spain [ITC20111029] FX We thank the Caenorhabditis Genetics Center, funded by the NIH National Center for Research Resources, for worm strains, and Julian Ceron, Peter Askjaer, and Antonio Miranda-Vizuete for sharing bacterial strains and plasmids. We are very grateful to Antonio Moreno-Herrera for critical reading and reviewing the manuscript and Jose Antonio Barcena for his help in analyzing protein sequences. We also thank Fernando Calahorro and Patricia G. Izquierdo for helpful comments and advices in the laboratory. Comments from Encarna Alejandre and assistance from Isabel Caballero are sincerely acknowledged. The research work has been supported by grant number PI0197 from Consejeria de Salud, Junta de Andalucia Spain, and ITC20111029 from CDTI (Centro para el Desarrollo Tecnologico Industrial), Spain. 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Cell. Neurosci. PD MAR 4 PY 2014 VL 8 AR 69 DI 10.3389/fncel.2014.00069 PG 12 WC Neurosciences SC Neurosciences & Neurology GA AC4DZ UT WOS:000332472200001 PM 24624060 ER PT J AU Wan, MW Downey, D Strachan, H Elliott, R Williams, SR Abel, KM AF Wan, Ming Wai Downey, Darragh Strachan, Hilary Elliott, Rebecca Williams, Steve R. Abel, Kathryn M. TI The Neural Basis of Maternal Bonding SO PLOS ONE LA English DT Article ID PARENT-INFANT SYNCHRONY; MOTHERS; BRAIN; RISK; SCHIZOPHRENIA; AUTISM; FMRI; RESPONSIVENESS; RECOGNITION; ACTIVATION AB Background: Accumulating evidence suggests that mothers show a different pattern of brain responses when viewing their own compared to other infants. However, there is inconsistency across functional imaging studies regarding the key areas involved, and none have examined relationships between brain and behavioural responses to infants. We examined the brain regions activated when mothers viewed videos of their own infant contrasted with an unknown infant, and whether these are associated with behavioural and self-reported measures of mother-infant relations. Method: Twenty right-handed mothers viewed alternating 30-sec blocks of video of own 4-9 month infant and an unfamiliar matched infant, interspersed with neutral video. Whole brain functional magnetic resonance images (fMRI) were acquired on a 1.5T Philips Intera scanner using a TR of 2.55 s. Videotaped mother-infant interactions were systematically evaluated blind to family information to generate behavioural measures for correlational analysis. Results: Enhanced blood oxygenation functional imaging responses were found in the own versus unknown infant contrast in the bilateral precuneus, right superior temporal gyrus, right medial and left middle frontal gyri and left amygdala. Positive mother-infant interaction (less directive parent behaviour; more positive/attentive infant behaviour) was significantly associated with greater activation in several regions on viewing own versus unknown infant, particularly the middle frontal gyrus. Mothers' perceived warmth of her infant was correlated with activations in the same contrast, particularly in sensory and visual areas. Conclusion: This study partially replicates previous reports of the brain regions activated in mothers in response to the visual presentation of their own infant. It is the first to report associations between mothers' unique neural responses to viewing their own infant with the quality of her concurrent behaviour when interacting with her infant and with her perceptions of infant warmth. These findings provide support for developing fMRI as a potential biomarker of parenting risk and change. C1 [Wan, Ming Wai; Abel, Kathryn M.] Univ Manchester, Ctr Womens Mental Hlth, Inst Brain Behav & Mental Hlth, Manchester, Lancs, England. [Downey, Darragh; Elliott, Rebecca] Univ Manchester, Neurosci & Psychiat Unit, Inst Brain Behav & Mental Hlth, Manchester, Lancs, England. [Strachan, Hilary] Bolton Natl Hlth Serv Fdn Trust, Bolton, Lancs, England. [Williams, Steve R.] Univ Manchester, Ctr Imaging Sci, Manchester, Lancs, England. RP Wan, MW (reprint author), Univ Manchester, Ctr Womens Mental Hlth, Inst Brain Behav & Mental Hlth, Manchester, Lancs, England. EM m.w.wan@manchester.ac.uk FU Wellcome Trust Clinical Research Facility; Magnetic Resonance Imaging Facility FX Wellcome Trust Clinical Research Facility and the Magnetic Resonance Imaging Facility paid for the scanning time. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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This study explored the nature and extent of difficulties in everyday social functioning in adults with Asperger's syndrome (AS), since increased understanding can enhance the development of more effective intervention strategies.MethodsIndividuals with AS (n=21) were compared with healthy control participants (n=21) on three tests of social cognition: the Mentalistic Interpretation task, which assesses interpretation of sarcasm and actions; the Social Problem Fluency task, which assesses ability to generate problem solutions; and the Social Problem Resolution task, which assesses judgement in selecting problem solutions.ResultsComprehension of both sarcastic remarks and actions was impaired in those with AS on the mentalistic interpretation task. Participants with AS showed difficulties in identifying the awkward elements of everyday social scenarios, and they were also impaired in generating problem solutions but not in judging alternative solutions on the social problem fluency and resolution tasks.ConclusionsThese tasks potentially provide a means of profiling strengths and weaknesses in social processing, which in turn has implications for informing clinical evaluation and training. C1 [Channon, Shelley; Crawford, Sarah; Orlowska, Danuta; Parikh, Nimmi; Thoma, Patrizia] UCL, Dept Cognit Perceptual & Brain Sci, London, England. RP Channon, S (reprint author), Dept Cognit Perceptual & Brain Sci, Bedford Way Bldg,Gower St, London WC1E 6BT, England. EM S.Channon@ucl.ac.uk FU DAAD (German Academic Exchange Service) [D/07/49076] FX Patrizia Thoma was supported by the DAAD (German Academic Exchange Service) Grant Number D/07/49076. 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TI Oxytocin enhances attention to the eye region in rhesus monkeys SO FRONTIERS IN NEUROSCIENCE LA English DT Article DE oxytocin; eyes; facial expression; free-viewing; gaze; eye tracking; intranasal oxytocin; rhesus macaques ID AUTISM SPECTRUM DISORDERS; INTRANASAL OXYTOCIN; EMOTIONAL FACES; FACIAL EXPRESSIONS; AMYGDALA; HUMANS; GAZE; RECOGNITION; PATTERNS; MACAQUE AB Human and non-human primates rely on the ability to perceive and interpret facial expressions to guide effective social interactions. The neuropeptide oxytocin (OT) has been shown to have a critical role in the perception of social cues, and in humans to increase the number of saccades to the eye region. To develop a useful primate model for the effects of OT on information processing, we investigated the influence of OT on gaze behavior during face processing in rhesus macaques. Forty-five minutes after a single intranasal dose of either 24IU OT or saline, monkeys completed a free-viewing task during which they viewed pictures of conspecifics displaying one of three facial expressions (neutral, open-mouth threat or bared-teeth) for 5s. The monkey was free to explore the face on the screen while the pattern of eye movements was recorded. OT did not increase overall fixations to the face compared to saline. Rather, when monkeys freely viewed conspecific faces, OT increased fixations to the eye region relative to the mouth region. This effect of OT was particularly pronounced when face position on the screen was manipulated so that the eye region was not the first facial feature seen by the monkeys. Together these findings are consistent with prior evidence in humans that intranasal administration of OT specifically enhances visual attention to the eye region compared to other informative facial features, thus validating the use of non-human primates to mechanistically explore how OT modulates social information processing and behavior. C1 [Dal Monte, Olga; Noble, Pamela L.; Costa, Vincent D.; Averbeck, Bruno B.] NIMH, Neuropsychol Lab, NIH, Bethesda, MD 20892 USA. [Dal Monte, Olga] Univ Turin, Dept Neuropsychol, Turin, Italy. RP Averbeck, BB (reprint author), NIMH, Neuropsychol Lab, NIH, 49 Convent Dr MSC 4415, Bethesda, MD 20892 USA. EM averbeckbb@mail.nih.gov FU National Institute of Health, NIMH FX This research was supported by the Intramural Research Program of the National Institute of Health, NIMH. 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PD MAR 3 PY 2014 VL 8 AR 41 DI 10.3389/fnins.2014.00041 PG 8 WC Neurosciences SC Neurosciences & Neurology GA AW7FL UT WOS:000346430000001 PM 24624055 ER PT J AU Huguet, G Nava, C Lemiere, N Patin, E Laval, G Ey, E Brice, A Leboyer, M Szepetowski, P Gillberg, C Depienne, C Delorme, R Bourgeron, T AF Huguet, Guillaume Nava, Caroline Lemiere, Nathalie Patin, Etienne Laval, Guillaume Ey, Elodie Brice, Alexis Leboyer, Marion Szepetowski, Pierre Gillberg, Christopher Depienne, Christel Delorme, Richard Bourgeron, Thomas TI Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders SO PLOS ONE LA English DT Article ID PAROXYSMAL KINESIGENIC DYSKINESIA; MICRODELETION SYNDROME; INFANTILE CONVULSIONS; CHROMOSOME 16P11.2; FUNCTIONAL IMPACT; HUMAN GENOME; MUTATIONS; PHENOTYPES; EVOLUTION; MIGRAINE AB Inherited and de novo genomic imbalances at chromosome 16p11.2 are associated with autism spectrum disorders (ASD), but the causative genes remain unknown. Among the genes located in this region, PRRT2 codes for a member of the synaptic SNARE complex that allows the release of synaptic vesicles. PRRT2 is a candidate gene for ASD since homozygote mutations are associated with intellectual disability and heterozygote mutations cause benign infantile seizures, paroxysmal dyskinesia, or hemiplegic migraine. Here, we explored the contribution of PRRT2 mutations in ASD by screening its coding part in a large sample of 1578 individuals including 431 individuals with ASD, 186 controls and 961 individuals from the human genome Diversity Panel. We detected 24 nonsynonymous variants, 1 frameshift (A217PfsX8) and 1 in-frame deletion of 6 bp (p. A361_P362del). The frameshift mutation was observed in a control with no history of neurological or psychiatric disorders. The p. A361_P362del was observed in two individuals with autism from sub-Saharan African origin. Overall, the frequency of PRRT2 deleterious variants was not different between individuals with ASD and controls. Remarkably, PRRT2 displays a highly significant excess of nonsynonymous (pN) vs synonymous (pS) mutations in Asia (pN/pS=4.85) and Europe (pN/pS=1.62) compared with Africa (pN/pS=0.26; Asia vs Africa: P=0.000087; Europe vs Africa P=0.00035; Europe vs Asia P=P=0.084). We also showed that whole genome amplification performed through rolling cycle amplification could artificially introduce the A217PfsX8 mutation indicating that this technology should not be performed prior to PRRT2 mutation screening. In summary, our results do not support a role for PRRT2 coding sequence variants in ASD, but provide an ascertainment of its genetic variability in worldwide populations that should help researchers and clinicians to better investigate the role of PRRT2 in human diseases. C1 [Huguet, Guillaume; Lemiere, Nathalie; Ey, Elodie; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, Paris, France. [Huguet, Guillaume; Lemiere, Nathalie; Ey, Elodie; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, Paris, France. [Huguet, Guillaume; Lemiere, Nathalie; Ey, Elodie; Bourgeron, Thomas] Univ Paris 07, Paris, France. [Nava, Caroline; Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, INSERM, U975, CRICM,Inst Cerveau & Moelle Epiniere ICM, Paris, France. [Nava, Caroline; Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, CNRS 7225, CRICM, Paris, France. [Nava, Caroline; Brice, Alexis; Depienne, Christel] Univ Paris 06, UMR S 975, Paris, France. [Nava, Caroline] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Genet Clin, Paris, France. [Patin, Etienne; Laval, Guillaume] Inst Pasteur, Unit Human Evolutionary Genet, Paris, France. [Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Neurogenet Mol & Cellulaire, Paris, France. [Leboyer, Marion] Hop Henri Mondor, INSERM, U955, Psychiat Genet Team, F-94010 Creteil, France. [Leboyer, Marion; Delorme, Richard; Bourgeron, Thomas] Fdn FondaMental, Creteil, France. [Szepetowski, Pierre] INSERM, UMR S901, F-13258 Marseille, France. [Szepetowski, Pierre] Aix Marseille Univ, Marseille, France. [Szepetowski, Pierre] Mediterranean Inst Neurobiol INMED, Marseille, France. [Gillberg, Christopher] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden. [Gillberg, Christopher] Gothenburg Univ, Dept Pharmacol, Inst Neurosci & Physiol, Gothenburg, Sweden. [Gillberg, Christopher] UCL, Inst Child Hlth, London, England. [Delorme, Richard] Hop Robert Debre, AP HP, Dept Child & Adolescent Psychiat, F-75019 Paris, France. RP Bourgeron, T (reprint author), Inst Pasteur, Paris, France. EM thomasb@pasteur.fr FU Institut Pasteur; CNRS; INSERM; AP-HP; University Paris Diderot; Bettencourt-Schueller foundation; Orange foundation; FondaMental foundation; Conny-Maeva foundation; Cognacq-Jay foundation; ANR (SynDivAutism); Neuron-ERANET (EUHF-AUTISM) FX This work was funded by the Institut Pasteur, CNRS, INSERM, AP-HP, University Paris Diderot, the Bettencourt-Schueller foundation, the Orange foundation, the FondaMental foundation, the Conny-Maeva foundation, the Cognacq-Jay foundation, the ANR (SynDivAutism), Neuron-ERANET (EUHF-AUTISM). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Zachariah, Robby M. Ezeonwuka, Chinelo D. Liyanage, Vichithra R. B. Rastegar, Mojgan TI Brain Region-Specific Expression of MeCP2 Isoforms Correlates with DNA Methylation within Mecp2 Regulatory Elements SO PLOS ONE LA English DT Article ID RETT-SYNDROME PHENOTYPES; CPG-BINDING PROTEIN-2; LEUKEMIA-CELL LINE; MOUSE MODEL; GENE-EXPRESSION; BASOLATERAL AMYGDALA; TRANSCRIPTION; NEURONS; PROMOTER; AUTISM AB MeCP2 is a critical epigenetic regulator in brain and its abnormal expression or compromised function leads to a spectrum of neurological disorders including Rett Syndrome and autism. Altered expression of the two MeCP2 isoforms, MeCP2E1 and MeCP2E2 has been implicated in neurological complications. However, expression, regulation and functions of the two isoforms are largely uncharacterized. Previously, we showed the role of MeCP2E1 in neuronal maturation and reported MeCP2E1 as the major protein isoform in the adult mouse brain, embryonic neurons and astrocytes. Recently, we showed that DNA methylation at the regulatory elements (REs) within the Mecp2 promoter and intron 1 impact the expression of Mecp2 isoforms in differentiating neural stem cells. This current study is aimed for a comparative analysis of temporal, regional and cell type-specific expression of MeCP2 isoforms in the developing and adult mouse brain. MeCP2E2 displayed a later expression onset than MeCP2E1 during mouse brain development. In the adult female and male brain hippocampus, both MeCP2 isoforms were detected in neurons, astrocytes and oligodendrocytes. Furthermore, MeCP2E1 expression was relatively uniform in different brain regions (olfactory bulb, striatum, cortex, hippocampus, thalamus, brainstem and cerebellum), whereas MeCP2E2 showed differential enrichment in these brain regions. Both MeCP2 isoforms showed relatively similar distribution in these brain regions, except for cerebellum. Lastly, a preferential correlation was observed between DNA methylation at specific CpG dinucleotides within the REs and Mecp2 isoform-specific expression in these brain regions. Taken together, we show that MeCP2 isoforms display differential expression patterns during brain development and in adult mouse brain regions. DNA methylation patterns at the Mecp2 REs may impact this differential expression of Mecp2/MeCP2 isoforms in brain regions. Our results significantly contribute towards characterizing the expression profiles of Mecp2/MeCP2 isoforms and thereby provide insights on the potential role of MeCP2 isoforms in the developing and adult brain. C1 [Rastegar, Mojgan] Univ Manitoba, Fac Med, Regenerat Med Program, Winnipeg, MB, Canada. Univ Manitoba, Fac Med, Dept Biochem & Med Genet, Winnipeg, MB, Canada. RP Rastegar, M (reprint author), Univ Manitoba, Fac Med, Regenerat Med Program, Winnipeg, MB, Canada. EM rastegar@cc.umanitoba.ca FU Scottish Rite Charitable Foundation of Canada (SRCFC) [10110]; Manitoba Health Research Council (MHRC); Health Sciences Centre Foundation (HSCF); MHRC/MICH/UMGF FX This work is supported by funds from the Scottish Rite Charitable Foundation of Canada (SRCFC, grant 10110), Manitoba Health Research Council (MHRC) Establishment Award, and Health Sciences Centre Foundation (HSCF) grant to MR. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. RMZ, CDE and VRBL are recipients of MHRC/MICH/UMGF studentship awards. 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TC 7 Z9 7 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD MAR 3 PY 2014 VL 9 IS 3 AR e90645 DI 10.1371/journal.pone.0090645 PG 16 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA AC4CT UT WOS:000332468900129 PM 24594659 ER PT J AU Yefidoff-Freedman, R Chen, T Sahoo, R Chen, LM Wagner, G Halperin, JA Aktas, BH Chorev, M AF Yefidoff-Freedman, Revital Chen, Ting Sahoo, Rupam Chen, Limo Wagner, Gerhard Halperin, Jose A. Aktas, Bertal H. Chorev, Michael TI 3-Substituted Indazoles as Configurationally Locked 4EGI-1 Mimetics and Inhibitors of the eIF4E/eIF4G Interaction SO CHEMBIOCHEM LA English DT Article DE eIF4E; eIF4G interaction; inhibitors; molecular probes; protein-protein interactions; translation initiation ID PROTEIN-PROTEIN INTERACTIONS; MATRIX-METALLOPROTEINASE INHIBITORS; AUTISM SPECTRUM DISORDERS; CATALYZED N-ARYLATION; FRAGILE-X-SYNDROME; TRANSLATION INITIATION; PHARMACOLOGICAL EVALUATION; DEPENDENT TRANSLATION; TUBEROUS-SCLEROSIS; DESIGNED MOLECULES AB 4EGI-1, the prototypic inhibitor of eIF4E/eIF4G interaction, was identified in a high-throughput screening of small-molecule libraries with the aid of a fluorescence polarization assay that measures inhibition of binding of an eIF4G-derived peptide to recombinant eIF4E. As such, the molecular probe 4EGI-1 has potential for the study of molecular mechanisms involved in human disorders characterized by loss of physiological restraints on translation initiation. A hit-to-lead optimization campaign was carried out to overcome the configurational instability in 4EGI-1, which stems from the E-to-Z isomerization of the hydrazone function. We identified compound 1a, in which the labile hydrazone was incorporated into a rigid indazole scaffold, as a promising rigidified 4EGI-1 mimetic lead. In a structure-activity relationship study directed towards probing the structural latitude of this new chemotype as an inhibitor of eIF4E/eIF4G interaction and translation initiation we identified 1d, an indazole-based 4EGI-1 mimetic, as a new and improved lead inhibitor of eIF4E/eIF4G interaction and a promising molecular probe candidate for elucidation of the role of cap-dependent translation initiation in a host of pathophysiological states. C1 [Yefidoff-Freedman, Revital; Chen, Ting; Sahoo, Rupam; Chen, Limo; Halperin, Jose A.; Aktas, Bertal H.; Chorev, Michael] Harvard Univ, Sch Med, Lab Translat Res, Boston, MA 02115 USA. [Yefidoff-Freedman, Revital; Chen, Ting; Sahoo, Rupam; Halperin, Jose A.; Aktas, Bertal H.; Chorev, Michael] Harvard Univ, Brigham & Womens Hosp, Sch Med, Hematol Lab Translat Res, Boston, MA 02115 USA. [Wagner, Gerhard] Harvard Univ, Sch Med, Dept Biol Chem & Mol Pharmacol, Boston, MA 02115 USA. RP Chorev, M (reprint author), Harvard Univ, Sch Med, Lab Translat Res, 240 Longwood Ave, Boston, MA 02115 USA. EM michael_chorev@hms.harvard.edu FU NCI [RO1CA121357]; Egenix, Inc. FX This work was supported by NCI grant #RO1CA121357 to M.C. and a sponsored research agreement from Egenix, Inc.. 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Christopher TI Artemis 123: development of a whole-head infant and young child MEG system SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE infant; young child; magnetoencephalography; resting-state; auditory ID AUTISM SPECTRUM DISORDERS; 2-TO 5-YEAR-OLD CHILDREN; LANGUAGE PERFORMANCE; EVOKED FIELDS; MAGNETOENCEPHALOGRAPHY; BIOMARKER; RESPONSES AB Background: A major motivation in designing the new infant and child magnetoencephalography (MEG) system described in this manuscript is the premise that electrophysiological signatures (resting activity and evoked responses) may serve as biomarkers of neurodevelopmental disorders, with neuronal abnormalities in conditions such as autism spectrum disorder (ASD) potentially detectable early indevelopment. Whole-head MEG systems are generally optimized/sized for adults. Since magnetic field produced by neuronal currents decreases as a function of distance(2) and infants and young children have smaller head sizes (and thus increased brain-to-sensor distance), whole-head adult MEG systems do not provide optimal signal-to-noise in younger individuals. This spurred development of a whole-head infant and young child MEG system - Artemis 123. Methods: In addition to describing the design of the Artemis 123, the focus of this manuscript is the use of Artemis 123 to obtain auditory evoked neuromagnetic recordings and resting-state data in young children. Data were collected from a 14-month-old female, an 18-month-old female, and a 48-month-old male. Phantom data are also provided to show localization accuracy. Results: Examination of Artemis 123 auditory data showed generalizability and reproducibility, with auditory responses observed in all participants. The auditory MEG measures were also found to be manipulable, exhibiting sensitivity to tone frequency. Furthermore, there appeared to be a predictable sensitivity of evoked components to development, with latencies decreasing with age. Examination of resting-state data showed characteristic oscillatory activity. Finally, phantom data showed that dipole sources could be localized with an error less than 0.5 cm. Conclusions: Artemis 123 allows efficient recording of high-quality whole-head MEG in infants four years and younger. Future work will involve examining the feasibility of obtaining somatosensory and visual recordings in similar-age children as well as obtaining recordings from younger infants. Thus, the Artemis 123 offers the promise of detecting earlier diagnostic signatures in such neurodevelopmental disorders. C1 [Roberts, Timothy P. L.; Murray, Rebecca; Chow, Vivian; Fisk, Charlie; Ku, Matthew; Chudnovskaya, Darina; Dell, John; Golembski, Rachel; Lam, Peter; Blaskey, Lisa; Kuschner, Emily; Bloy, Luke; Gaetz, William; Edgar, J. Christopher] Childrens Hosp Philadelphia, Dept Radiol, Lurie Family Fdn MEG Imaging Ctr, Philadelphia, PA 19104 USA. [Paulson, Douglas N.; Hirschkoff, Eugene; Pratt, Kevin; Mascarenas, Anthony; Miller, Paul; Han, Mengali; Caffrey, Jason; Kincade, Chuck; Power, Bill] Tristan Technol Inc, San Diego, CA USA. RP Roberts, TPL (reprint author), Childrens Hosp Philadelphia, Dept Radiol, Lurie Family Fdn MEG Imaging Ctr, 34th & Civ Ctr Blvd,Wood Bldg,Suite 2115, Philadelphia, PA 19104 USA. EM robertstim@email.chop.edu FU Nancy Lurie Marks Family Foundations; Lurie Family Foundations; HRSA; [NIH-R01DC008871]; [NIH-P30HD026979] FX This research was supported by grants from the Nancy Lurie Marks Family Foundations, the Lurie Family Foundations, NIH-R01DC008871, NIH-P30HD026979 and a grant from HRSA. Dr. Roberts gratefully acknowledges the Oberkircher family for the Oberkircher Family Chair in Pediatric Radiology at CHOP. 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Hum. Neurosci. PD MAR 3 PY 2014 VL 8 AR 99 DI 10.3389/fnhum.2014.00099 PG 10 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA AC0DP UT WOS:000332165300001 PM 24624069 ER PT J AU Ehrenreich, H Nave, KA AF Ehrenreich, Hannelore Nave, Klaus-Armin TI Phenotype-Based Genetic Association Studies (PGAS)-Towards Understanding the Contribution of Common Genetic Variants to Schizophrenia Subphenotypes SO Genes LA English DT Review DE mental disease; diagnosis; classification systems; GWAS; monozygotic twins; deep phenotyping; Manhattan plot; genotype; SNP; GRAS data collection ID GENOME-WIDE ASSOCIATION; COGNITIVE PERFORMANCE; NRG1 GENE; RISK; METAANALYSIS; TWIN; DISEASE; LOCI AB Neuropsychiatric diseases ranging from schizophrenia to affective disorders and autism are heritable, highly complex and heterogeneous conditions, diagnosed purely clinically, with no supporting biomarkers or neuroimaging criteria. Relying on these "umbrella diagnoses", genetic analyses, including genome-wide association studies (GWAS), were undertaken but failed to provide insight into the biological basis of these disorders. "Risk genotypes" of unknown significance with low odds ratios of mostly <1.2 were extracted and confirmed by including ever increasing numbers of individuals in large multicenter efforts. Facing these results, we have to hypothesize that thousands of genetic constellations in highly variable combinations with environmental co-factors can cause the individual disorder in the sense of a final common pathway. This would explain why the prevalence of mental diseases is so high and why mutations, including copy number variations, with a higher effect size than SNPs, constitute only a small part of variance. Elucidating the contribution of normal genetic variation to (disease) phenotypes, and so re-defining disease entities, will be extremely labor-intense but crucial. We have termed this approach PGAS ("phenotype-based genetic association studies"). Ultimate goal is the definition of biological subgroups of mental diseases. For that purpose, the GRAS (Gottingen Research Association for Schizophrenia) data collection was initiated in 2005. With >3000 phenotypical data points per patient, it comprises the world-wide largest currently available schizophrenia database (N > 1200), combining genome-wide SNP coverage and deep phenotyping under highly standardized conditions. First PGAS results on normal genetic variants, relevant for e.g., cognition or catatonia, demonstrated proof-of-concept. Presently, an autistic subphenotype of schizophrenia is being defined where an unfortunate accumulation of normal genotypes, so-called pro-autistic variants of synaptic genes, explains part of the phenotypical variance. Deep phenotyping and comprehensive clinical data sets, however, are expensive and it may take years before PGAS will complement conventional GWAS approaches in psychiatric genetics. C1 [Ehrenreich, Hannelore; Nave, Klaus-Armin] Max Planck Inst Expt Med, D-37075 Gottingen, Germany. [Ehrenreich, Hannelore; Nave, Klaus-Armin] DFG Ctr Nanoscale Microscopy & Mol Physiol Brain, D-37075 Gottingen, Germany. RP Ehrenreich, H (reprint author), Max Planck Inst Expt Med, Hermann Rein Str 3, D-37075 Gottingen, Germany. EM ehrenreich@em.mpg.de; nave@em.mpg.de FU Max Planck Society; Max Planck Forderstiftung; DFG (CNMPB) FX This work has received continuous support by the Max Planck Society, the Max Planck Forderstiftung, and the DFG (CNMPB). 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Background: Television and film can be a source of information and misinformation about medical disorders. Tourette Syndrome has received attention in the popular media, but no studies have been done on the accuracy of the depiction of the disorder. Methods: International internet movie databases were searched using the terms "Tourette's", "Tourette's Syndrome", and "tics" to generate all movies, shorts, and television programs featuring a character or scene with TS or a person imitating TS. Using a grounded theory approach, we identified the types of characters, tics, and co-morbidities depicted as well as the overall representation of TS. Results: Thirty-seven television programs and films were reviewed dating from 1976 to 2010. Fictional movies and television shows gave overall misrepresentations of TS. Coprolalia was overrepresented as a tic manifestation, characters were depicted having autism spectrum disorder symptoms rather than TS, and physicians were portrayed as unsympathetic and only focusing on medical therapies. School and family relationships were frequently depicted as being negatively impacted by TS, leading to poor quality of life. Conclusions: Film and television are easily accessible resources for patients and the public that may influence their beliefs about TS. Physicians should be aware that TS is often inaccurately represented in television programs and film and acknowledge misrepresentations in order to counsel patients accordingly. C1 [Calder-Sprackman, Samantha; Sutherland, Stephanie; Doja, Asif] Univ Ottawa, Fac Med, Ottawa, ON, Canada. [Doja, Asif] Childrens Hosp Eastern Ontario, Dept Pediat, Div Neurol, Ottawa, ON K1H 8L1, Canada. RP Doja, A (reprint author), Childrens Hosp Eastern Ontario, Dept Pediat, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada. 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Unimodal sensory deprivation from birth through whisker deprivation or dark rearing reduced excitatory synaptic transmission in the correspondent sensory cortex and cross-modally in other sensory cortices. Sensory experience regulated synthesis and secretion of the neuropeptide oxytocin as well as its level in the cortex. Both in vivo oxytocin injection and increased sensory experience elevated excitatory synaptic transmission in multiple sensory cortices and significantly rescued the effects of sensory deprivation. Together, these results identify a new function for oxytocin in promoting cross-modal, experience-dependent cortical development. This link between sensory experience and oxytocin is particularly relevant to autism, where hypersensitivity or hyposensitivity to sensory inputs is prevalent and oxytocin is a hotly debated potential therapy. 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EM gross@embl.it FU EMBL; IIT; Italian Ministry of University and Scientific Research PRIN; Forschungskredit of the University of Zurich FX We thank F. Zonfrillo for expert mouse husbandry, I. Charo (University of California San Francisco) and T. Deller (University of Frankfurt) for providing mice, the EMBL Transgenic Facility for help in rederiving mouse lines, the EMBL Microscopy Facility for access to light and electron microscopes, J. Griesbach and M. Al Banchaabouchi for help in videoscoring, A. Jain, J. Gordon and T. Sigurdsson for assistance in establishing in vivo electrophysiology, A. Galbusera for help in performing MRI acquisitions and F. D'Amato and V. Carola for advice in behavioral testing and analysis. This work was supported by funds from EMBL to C. T. G., R. C. P. and Y.Z. (Y.Z. is an EMBL Interdisciplinary Postdocs (EIPOD) fellow), the IIT to A. G., A. B. and F. S., the Italian Ministry of University and Scientific Research PRIN 2009 to D. R. and a Forschungskredit of the University of Zurich to A.L.V. 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PD MAR PY 2014 VL 17 IS 3 BP 400 EP 406 DI 10.1038/nn.3641 PG 7 WC Neurosciences SC Neurosciences & Neurology GA AB8CA UT WOS:000332016500013 PM 24487234 ER PT J AU Chen, CP Lin, SP Chern, SR Wu, PS Su, JW Lee, CC Wang, W AF Chen, Chih-Ping Lin, Shuan-Pei Chern, Schu-Rern Wu, Peih-Shan Su, Jun-Wei Lee, Chen-Chi Wang, Wayseen TI A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation SO TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY LA English DT Article DE 12p11.22-p11.21 deletion; 22q11.2 duplication; autism; DDX11 ID BALANCED RECIPROCAL TRANSLOCATIONS; LACTICO-DEHYDROGENASE-B; MICRODUPLICATION 22Q11.2; SPECTRUM DISORDER; IDENTIFICATION; ASSOCIATION; HELICASE; MUTATION; DDX11; CHLR1 AB Objective: To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22 -p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q243;p11.2). Materials and methods: A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q243;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient. Results: aCGH analysis revealed a 137-Mb 12p11.22-p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008-32,014,774) x 1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470 -19,024,306) x 3. The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2. Conclusion: An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22-p1121 microdeletion and 22q112 microduplication. Copyright (C) 2014, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved. C1 [Chen, Chih-Ping; Su, Jun-Wei; Lee, Chen-Chi] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan. [Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Wang, Wayseen] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan. [Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan. [Chen, Chih-Ping] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan. [Chen, Chih-Ping] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan. [Chen, Chih-Ping] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan. [Lin, Shuan-Pei] Mackay Med Coll, Dept Med, New Taipei City, Taiwan. [Lin, Shuan-Pei] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan. [Lin, Shuan-Pei] Mackay Jr Coll Med Nursing & Management, Taipei, Taiwan. [Wu, Peih-Shan] Gene Biodesign Co Ltd, Taipei, Taiwan. [Su, Jun-Wei] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan. [Wang, Wayseen] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan. RP Chen, CP (reprint author), Mackay Mem Hosp, Dept Obstet & Gynecol, 92,Sect 2,Chung Shan North Road, Taipei, Taiwan. EM cpc_mmh@yahoo.com FU National Science Council [NSC-99-2628-B-195-001-MY3, NSC-101-2314-B-195-011-MY3]; Mackay Memorial Hospital, Taipei, Taiwan [MMH-E-102-04] FX This work was supported by research grants NSC-99-2628-B-195-001-MY3 and NSC-101-2314-B-195-011-MY3 from the National Science Council and MMH-E-102-04 from Mackay Memorial Hospital, Taipei, Taiwan. 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The purpose of this paper is to provide an overview of one of the only empirically supported social skills programs for youth with ASD: The Program for the Education and Enrichment of Relational Skills (PEERS (R)). Developed at the UCLA Semel Institute for Neuroscience and Human Behavior, PEERS (R) utilizes the principles of cognitive behavior therapy (CBT) to improve social functioning for youth with ASD and other social difficulties. One of the only empirically-supported social skills programs to disseminate published treatment manuals for mental health professionals and educators, the PEERS (R) approach applies CBT methods of instruction including: didactic lessons (psychoeducation), role-play demonstrations, cognitive strategies, behavioral rehearsal exercises, performance feedback, homework assignments and review, and parent involvement within a small group treatment format. 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This project extends the research by examining the effects of systematic instruction, including constant time delay and a modified system of least prompts, paired with an iPad2 (R) to teach grade-appropriate literature in a shared story format for students with limited verbal ability. The participants in this intervention were four elementary-aged male students with autism and limited to no verbal ability. A 10-step task analysis was developed to guide the shared story process. Results indicated that the participants were able to increase the number of independent correct responses on the task analysis from baseline to intervention. Study limitations and implications for future research are discussed. C1 [Spooner, Fred] Univ N Carolina, Dept Special Educ & Child Dev, Charlotte, NC 28223 USA. [Ahlgrim-Delzell, Lynn] Univ N Carolina, Dept Educ Leadership, Charlotte, NC 28223 USA. [Kemp-Inman, Amy; Wood, Leah A.] Univ N Carolina, Charlotte, NC 28223 USA. 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McCune, Sandra Slaughter, Virginia TI Effects of Classroom Animal-Assisted Activities on Social Functioning in Children with Autism Spectrum Disorder SO JOURNAL OF ALTERNATIVE AND COMPLEMENTARY MEDICINE LA English DT Article ID PDD BEHAVIOR INVENTORY; OBJECTS; DOGS; LONELINESS; CHALLENGES; BENEFITS; PEOPLE; PETS AB Objective: The objective of this study was to implement and evaluate a classroom-based Animal-Assisted Activities (AAA) program on social functioning in children with autism spectrum disorder (ASD). Design: This was a multisite, control-to-intervention design study. Settings/location: The study was conducted in 41 classrooms in 15 schools in Brisbane, Australia. Subjects: Sixty-four (64) 5- to 12-year-old children diagnosed with ASD comprised the study group. Intervention: The AAA program consisted of 8 weeks of animal exposure in the school classroom in addition to 16 20-minute animal-interaction sessions. Outcome measures: Teacher-and parent-reported child behavior and social functioning were assessed through standardized instruments at three time points: upon study entry (Time 1), after an 8-week waiting period during the week prior to the AAA program (Time 2), and during the week following the 8-week AAA program (Time 3). Results: Significant improvements were identified in social functioning, including increases in social approach behaviors and social skills, and decreases in social withdrawal behaviors, from before to after the AAA program, but not during the waitlist period. Over half of parents also reported that participants demonstrated an increased interest in attending school during the program. Conclusions: Results demonstrate the feasibility and potential efficacy of a new classroom-based Animal-Assisted Activities model, which may provide a relatively simple and cost-effective means of helping educators and families to improve the social functioning of children with ASD. C1 [O'Haire, Marguerite E.; Slaughter, Virginia] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia. [McKenzie, Samantha J.] Univ Queensland, Sch Populat, Herston, Qld, Australia. [McCune, Sandra] WALTHAM Ctr Pet Nutr, Leicester, Leics, England. RP O'Haire, ME (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia. EM maggie.ohaire@gmail.com FU Fulbright Scholarship; University of Queensland Research Scholarship; WALTHAM(R) Centre for Pet Nutrition; Society for Companion Animal Studies; Thomas Meloy Foundation; Eunice Kennedy Shriver National Institute of Child Health & Human Development [R03HD070683] FX This research was supported by a Fulbright Scholarship awarded to Marguerite E. O'Haire as a visiting scholar to The University of Queensland's Centre for Companion Animal Health, as well as The University of Queensland Research Scholarship and grants from the WALTHAM (R) Centre for Pet Nutrition, the Society for Companion Animal Studies, the Thomas Meloy Foundation, and Grant Number R03HD070683 from the Eunice Kennedy Shriver National Institute of Child Health & Human Development. The content is solely the responsibility of the authors and does not necessarily represent the official views of the Eunice Kennedy Shriver National Institute of Child Health & Human Development or the National Institutes of Health. We thank Oxbow Animal Health, the Royal Society for the Prevention of Cruelty to Animals (RSPCA) Queensland, Pet City Mount Gravatt, and the Centre for Companion Animal Health for contributing animal food, cages, and supplies, as well as RSPCA Qld, the Queensland Government Department of Education, Training, and Employment, and Brisbane Catholic Education for their assistance with school recruitment. We gratefully acknowledge Jacquie Rand and Michal Motro for their guidance in the early stages of this research, as well as Alan M. Beck for his guidance in the later stages of the research. We also thank our research assistants and volunteers, especially Jinny Hong, Sharlene Teo, Laura Fitzalan, and Robert Eres for their assistance with data collection and data entry. Finally, we are especially grateful to the teachers and parents who volunteered their time to participate in this research. 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TI Spontaneous Mentalizing Predicts the Fundamental Attribution Error SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Article ID MEDIAL PREFRONTAL CORTEX; TEMPORO-PARIETAL JUNCTION; FUNCTIONAL CONNECTIVITY; SOCIAL COGNITION; BRAIN; FMRI; KNOWLEDGE; BEHAVIOR; AUTISM; MINDS AB When explaining the reasons for others' behavior, perceivers often overemphasize underlying dispositions and personality traits over the power of the situation, a tendency known as the fundamental attribution error. One possibility is that this bias results from the spontaneous processing of others' mental states, such as their momentary feelings or more enduring personality characteristics. Here, we use fMRI to test this hypothesis. Participants read a series of stories that described a target's ambiguous behavior in response to a specific social situation and later judged whether that act was attributable to the target's internal dispositions or to external situational factors. Neural regions consistently associated with mental state inference-especially, the medial pFC-strongly predicted whether participants later made dispositional attributions. These results suggest that the spontaneous engagement of mentalizing may underlie the biased tendency to attribute behavior to dispositional over situational forces. C1 [Moran, Joseph M.; Jolly, Eshin; Mitchell, Jason P.] Harvard Univ, Cambridge, MA 02138 USA. [Moran, Joseph M.] US Army Natick Soldier Res, Dev & Engn Ctr, Natick, MA USA. RP Moran, JM (reprint author), Harvard Univ, Ctr Brain Sci, 52 Oxford St,290-01, Cambridge, MA 02138 USA. EM jmoran@wjh.harvard.edu FU Harvard University FX This work was supported by a seed grant from Harvard University to J. P. M. The authors thank Diana Bartenstein and T. J. Eisenstein for assistance. 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TI Affiliation buffers stress: cumulative genetic risk in oxytocin-vasopressin genes combines with early caregiving to predict PTSD in war-exposed young children SO TRANSLATIONAL PSYCHIATRY LA English DT Article DE gene-by-environment; mother-child relationship; oxytocin; PTSD; vasopressin ID LONG-TERM CONSEQUENCES; RECEPTOR GENE; CHILDHOOD MALTREATMENT; DISORDER SYMPTOMS; TRAUMATIC STRESS; HUMAN-BEHAVIOR; AUTISM; OXTR; ASSOCIATION; EMPATHY AB Research indicates that risk for post-traumatic stress disorder (PTSD) is shaped by the interaction between genetic vulnerability and early caregiving experiences; yet, caregiving has typically been assessed by adult retrospective accounts. Here, we employed a prospective longitudinal design with real-time observations of early caregiving combined with assessment of genetic liability along the axis of vasopressin-oxytocin (OT) gene pathways to test G x E contributions to PTSD. Participants were 232 young Israeli children (1.5-5 years) and their parents, including 148 living in zones of continuous war and 84 controls. A cumulative genetic risk factor was computed for each family member by summing five risk alleles across three genes (OXTR, CD38 and AVPR1a) previously associated with psychopathology, sociality and caregiving. Child PTSD was diagnosed and mother-child interactions were observed in multiple contexts. In middle childhood (7-8 years), child psychopathology was re-evaluated. War exposure increased propensity to develop Axis-I disorder by threefold: 60% of exposed children displayed a psychiatric disorder by middle childhood and 62% of those showed several comorbid disorders. On the other hand, maternal sensitive support reduced risk for psychopathology. G x E effect was found for child genetic risk: in the context of war exposure, greater genetic risk on the vasopressin-OT pathway increased propensity for psychopathology. Among exposed children, chronicity of PTSD from early to middle childhood was related to higher child, maternal and paternal genetic risk, low maternal support and greater initial avoidance symptoms. Child avoidance was predicted by low maternal support and reduced mother-child reciprocity. These findings underscore the saliency of both genetic and behavioral facets of the human affiliation system in shaping vulnerability to PTSD as well as providing an underlying mechanism of post-traumatic resilience. C1 [Feldman, R.; Vengrober, A.] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel. [Feldman, R.] Bar Ilan Univ, Dept Gonda Brain Sci Ctr, IL-52900 Ramat Gan, Israel. [Ebstein, R. P.] Natl Univ Singapore, Dept Psychol, Singapore 117548, Singapore. RP Feldman, R (reprint author), Bar Ilan Univ, Dept Psychol, Gonda Bldg, IL-52900 Ramat Gan, Israel. EM feldman@mail.biu.ac.il FU NARSAD independent investigator award FX This study was supported by NARSAD independent investigator award to RF. 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Psychiatr. PD MAR PY 2014 VL 4 AR e370 DI 10.1038/tp.2014.6 PG 7 WC Psychiatry SC Psychiatry GA AJ2RS UT WOS:000337508600005 PM 24618689 ER PT J AU Pathania, M Davenport, EC Muir, J Sheehan, DF Lopez-Domenech, G Kittler, JT AF Pathania, M. Davenport, E. C. Muir, J. Sheehan, D. F. Lopez-Domenech, G. Kittler, J. T. TI The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines SO TRANSLATIONAL PSYCHIATRY LA English DT Article ID AMPA-RECEPTOR TRAFFICKING; COPY-NUMBER VARIATION; SYNAPTIC PLASTICITY; ACTIN POLYMERIZATION; SPECTRUM DISORDERS; STRUCTURAL PLASTICITY; GENOME-WIDE; IN-VIVO; F-ACTIN; PROTEIN AB Copy number variation (CNV) at the 15q11.2 region has been identified as a significant risk locus for neurological and neuropsychiatric conditions such as schizophrenia (SCZ) and autism spectrum disorder (ASD). However, the individual roles for genes at this locus in nervous system development, function and connectivity remain poorly understood. Haploinsufficiency of one gene in this region, Cyfip1, may provide a model for 15q11.2 CNV-associated neuropsychiatric phenotypes. Here we show that altering CYFIP1 expression levels in neurons both in vitro and in vivo influences dendritic complexity, spine morphology, spine actin dynamics and synaptic alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor lateral diffusion. CYFIP1 is highly enriched at synapses and its overexpression in vitro leads to increased dendritic complexity. Neurons derived from Cyfip1 heterozygous animals on the other hand, possess reduced dendritic complexity, increased mobile F-actin and enhanced GluA2-containing AMPA receptor mobility at synapses. Interestingly, Cyfip1 overexpression or haploinsufficiency increased immature spine number, whereas activity-dependent changes in spine volume were occluded in Cyfip1 haploinsufficient neurons. In vivo, Cyfip1 heterozygous animals exhibited deficits in dendritic complexity as well as an altered ratio of immature-to-mature spines in hippocampal CA1 neurons. In summary, we provide evidence that dysregulation of CYFIP1 expression levels leads to pathological changes in CNS maturation and neuronal connectivity, both of which may contribute to the development of the neurological symptoms seen in ASD and SCZ. C1 [Pathania, M.; Davenport, E. C.; Muir, J.; Sheehan, D. F.; Lopez-Domenech, G.; Kittler, J. T.] UCL, Dept Neurosci Physiol & Pharmacol, London WC1E 6BT, England. RP Kittler, JT (reprint author), UCL, Dept Neurosci Physiol & Pharmacol, Gower St, London WC1E 6BT, England. EM j.kittler@ucl.ac.uk RI Kittler, Josef/E-9113-2010 FU United Kingdom Medical Research Council Senior Non-Clinical Fellowship (MRC) [GO802377] FX We thank Professor M Hausser for kindly providing access to the Neurolucida system and Dr B Clark and Dr A Roth for their help and advice on using the Neurolucida system. We thank Kittler lab members for constructive discussions. This work was supported by the United Kingdom Medical Research Council Senior Non-Clinical Fellowship (MRC; GO802377; JTK). ECD is an MRC-funded student on the MRC Laboratory for Molecular Cell Biology 4-year graduate programme. DFS is in the University College London (UCL) Centre for Mathematics and Physics in the Life Sciences and Experimental Biology (COMPLEX) PhD Programme. 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Psychiatr. PD MAR PY 2014 VL 4 AR e374 DI 10.1038/tp.2014.16 PG 11 WC Psychiatry SC Psychiatry GA AJ2RS UT WOS:000337508600009 PM 24667445 ER PT J AU Davis, JM Searles, VB Anderson, N Keeney, J Dumas, L Sikela, JM AF Davis, Jonathan M. Searles, Veronica B. Anderson, Nathan Keeney, Jonathon Dumas, Laura Sikela, James M. TI DUF1220 Dosage Is Linearly Associated with Increasing Severity of the Three Primary Symptoms of Autism SO PLOS GENETICS LA English DT Article ID SPECTRUM DISORDERS; NUMBER; EVOLUTION; SIZE; ENLARGEMENT; DOMAINS; DISEASE; CORTEX AB One of the three most frequently documented copy number variations associated with autism spectrum disorder (ASD) is a 1q21.1 duplication that encompasses sequences encoding DUF1220 protein domains, the dosage of which we previously implicated in increased human brain size. Further, individuals with ASD frequently display accelerated brain growth and a larger brain size that is also associated with increased symptom severity. Given these findings, we investigated the relationship between DUF1220 copy number and ASD severity, and here show that in individuals with ASD (n = 170), the copy number (dosage) of DUF1220 subtype CON1 is highly variable, ranging from 56 to 88 copies following a Gaussian distribution. More remarkably, in individuals with ASD CON1 copy number is also linearly associated, in a dose-response manner, with increased severity of each of the three primary symptoms of ASD: social deficits (p = 0.021), communicative impairments (p = 0.030), and repetitive behaviors (p = 0.047). These data indicate that DUF1220 protein domain (CON1) dosage has an ASD-wide effect and, as such, is likely to be a key component of a major pathway underlying ASD severity. Finally, these findings, by implicating the dosage of a previously unexamined, copy number polymorphic and brain evolution-related gene coding sequence in ASD severity, provide an important new direction for further research into the genetic factors underlying ASD. C1 [Davis, Jonathan M.; Searles, Veronica B.; Anderson, Nathan; Keeney, Jonathon; Dumas, Laura; Sikela, James M.] Univ Colorado, Sch Med, Dept Biochem & Mol Genet, Human Med Genet & Genom Program, Aurora, CO 80045 USA. [Davis, Jonathan M.; Searles, Veronica B.; Anderson, Nathan; Keeney, Jonathon; Dumas, Laura; Sikela, James M.] Univ Colorado, Sch Med, Neurosci Program, Aurora, CO USA. [Searles, Veronica B.] Univ Colorado, Sch Med, Med Scientist Training Program, Aurora, CO USA. RP Davis, JM (reprint author), Univ Colorado, Sch Med, Dept Biochem & Mol Genet, Human Med Genet & Genom Program, Anschutz Med Campus, Aurora, CO 80045 USA. EM james.sikela@ucdenver.edu FU National Institute of Mental Health [1U24MH081810]; [5RO1 MH081203-04 NIMH] FX This research was funded by 5RO1 MH081203-04 NIMH. No additional external funding was received for this study. The Autism Genetic Resource Exchange is a program of Autism Speaks and is supported, in part, by grant 1U24MH081810 from the National Institute of Mental Health to Clara M. Lajonchere (PI). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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PD MAR PY 2014 VL 10 IS 3 AR e1004241 DI 10.1371/journal.pgen.1004241 PG 5 WC Genetics & Heredity SC Genetics & Heredity GA AI8FM UT WOS:000337144700062 PM 24651471 ER PT J AU Wu, JX Li, YD Jiang, R AF Wu, Jiaxin Li, Yanda Jiang, Rui TI Integrating Multiple Genomic Data to Predict Disease-Causing Nonsynonymous Single Nucleotide Variants in Exome Sequencing Studies SO PLOS GENETICS LA English DT Article ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; FALSE DISCOVERY RATE; INTRAHEPATIC CHOLESTASIS; INTELLECTUAL DISABILITY; SEMANTIC SIMILARITY; PROTEIN-SEQUENCE; GENE; PREGNANCY; CHOLELITHIASIS AB Exome sequencing has been widely used in detecting pathogenic nonsynonymous single nucleotide variants (SNVs) for human inherited diseases. However, traditional statistical genetics methods are ineffective in analyzing exome sequencing data, due to such facts as the large number of sequenced variants, the presence of non-negligible fraction of pathogenic rare variants or de novo mutations, and the limited size of affected and normal populations. Indeed, prevalent applications of exome sequencing have been appealing for an effective computational method for identifying causative nonsynonymous SNVs from a large number of sequenced variants. Here, we propose a bioinformatics approach called SPRING (Snv PRioritization via the INtegration of Genomic data) for identifying pathogenic nonsynonymous SNVs for a given query disease. Based on six functional effect scores calculated by existing methods (SIFT, PolyPhen2, LRT, MutationTaster, GERP and PhyloP) and five association scores derived from a variety of genomic data sources (gene ontology, protein-protein interactions, protein sequences, protein domain annotations and gene pathway annotations), SPRING calculates the statistical significance that an SNV is causative for a query disease and hence provides a means of prioritizing candidate SNVs. With a series of comprehensive validation experiments, we demonstrate that SPRING is valid for diseases whose genetic bases are either partly known or completely unknown and effective for diseases with a variety of inheritance styles. In applications of our method to real exome sequencing data sets, we show the capability of SPRING in detecting causative de novo mutations for autism, epileptic encephalopathies and intellectual disability. We further provide an online service, the standalone software and genome-wide predictions of causative SNVs for 5,080 diseases at http://bioinfo.au.tsinghua.edu.cn/spring. C1 [Wu, Jiaxin] Tsinghua Univ, MOE Key Lab Bioinformat, Bioinformat Div, Beijing 100084, Peoples R China. Tsinghua Univ, Ctr Synthet & Syst Biol, TNLIST, Dept Automat, Beijing 100084, Peoples R China. RP Wu, JX (reprint author), Tsinghua Univ, MOE Key Lab Bioinformat, Bioinformat Div, Beijing 100084, Peoples R China. EM ruijiang@tsinghua.edu.cn RI Jiang, Rui/B-1345-2012 OI Jiang, Rui/0000-0002-7533-3753 FU National Basic Research Program of China [2012CB316504]; National High Technology Research and Development Program of China [2012AA020401]; National Natural Science Foundation of China [61175002]; Outstanding Tutors for Doctoral Dissertations of Science and Technology Projects in Beijing [20111000304] FX This research was partially supported by the National Basic Research Program of China (2012CB316504), the National High Technology Research and Development Program of China (2012AA020401), the National Natural Science Foundation of China (61175002), and the Outstanding Tutors for Doctoral Dissertations of Science and Technology Projects in Beijing (20111000304). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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PD MAR PY 2014 VL 10 IS 3 AR e1004237 DI 10.1371/journal.pgen.1004237 PG 14 WC Genetics & Heredity SC Genetics & Heredity GA AI8FM UT WOS:000337144700058 PM 24651380 ER PT J AU Williams, TA Porter, MA Langdon, R AF Williams, Tracey A. Porter, Melanie A. Langdon, Robyn TI Social Approach and Emotion Recognition in Fragile X Syndrome SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE Fragile X syndrome; emotion; social approach; social avoidance ID FACIAL EXPRESSIONS; AMYGDALA DAMAGE; AUTISM; MALES; BEHAVIOR; FACE; BRAIN; GAZE; HYPERSOCIABILITY; INFORMATION AB Evidence is emerging that individuals with Fragile X syndrome (FXS) display emotion recognition deficits, which may contribute to their significant social difficulties. The current study investigated the emotion recognition abilities, and social approachability judgments, of FXS individuals when processing emotional stimuli. Relative to chronological age- (CA-) and mental age- (MA-) matched controls, the FXS group performed significantly more poorly on the emotion recognition tasks, and displayed a bias towards detecting negative emotions. Moreover, after controlling for emotion recognition deficits, the FXS group displayed significantly reduced ratings of social approachability. These findings suggest that a social anxiety pattern, rather than poor socioemotional processing, may best explain the social avoidance observed in FXS. C1 [Williams, Tracey A.] Macquarie Univ, ARC Ctr Excellence Cognit & Its Disorders, Sydney, NSW 2109, Australia. [Williams, Tracey A.] Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia. [Porter, Melanie A.; Langdon, Robyn] Macquarie Univ, Sydney, NSW 2109, Australia. RP Williams, TA (reprint author), Macquarie Univ, ARC Ctr Excellence Cognit & Its Disorders, Sydney, NSW 2109, Australia. 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PD MAR PY 2014 VL 119 IS 2 BP 133 EP 150 DI 10.1352/1944-7558-119.2.133 PG 18 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AE1SA UT WOS:000333748800005 PM 24679350 ER PT J AU Jones, L Hastings, RP Totsika, V Keane, L Rhule, N AF Jones, Leah Hastings, Richard Patrick Totsika, Vasiliki Keane, Lisa Rhule, Neisha TI Child Behavior Problems and Parental Well-Being in Families of Children With Autism: The Mediating Role of Mindfulness and Acceptance SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE autism spectrum disorder; parents; mindfulness; mindful parenting; psychological acceptance ID INTELLECTUAL DISABILITY; MENTAL-HEALTH; SPECTRUM DISORDERS; DEVELOPMENTAL-DISABILITIES; PRESCHOOL-CHILDREN; DOWN-SYNDROME; PSYCHOLOGICAL ADJUSTMENT; POSITIVE PERCEPTIONS; DECREASES AGGRESSION; SYNDROME SPECIFICITY AB Few research studies have explored how the level of a child's behavior problems leads to psychological distress in parents of children with autism. The authors explored whether psychological acceptance and mindfulness mediated this relationship between child behavior and parental distress. Seventy-one mothers and 39 fathers of children with autism participated, by reporting on their own positive and negative psychological well-being and their child's behavior problems. Psychological acceptance was found to act as a mediator variable for maternal anxiety, depression, and stress, and for paternal depression. General mindfulness and mindful parenting had significant mediation effects for maternal anxiety, depression, and stress. These results contribute to evidence that mindfulness and acceptance may be important parental psychological processes, with implications for parent support. C1 [Jones, Leah] Bangor Univ, Sch Psychol, Bangor LL572AS, Gwynedd, Wales. [Hastings, Richard Patrick] Univ Warwick, Coventry CV4 7AL, W Midlands, England. [Totsika, Vasiliki; Keane, Lisa; Rhule, Neisha] Bangor Univ, Bangor LL572AS, Gwynedd, Wales. RP Jones, L (reprint author), Bangor Univ, Sch Psychol, Bangor LL572AS, Gwynedd, Wales. 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J. Intellect. Dev. Disabil. PD MAR PY 2014 VL 119 IS 2 BP 171 EP 185 DI 10.1352/1944-7558-119.2.171 PG 15 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AE1SA UT WOS:000333748800007 PM 24679352 ER PT J AU Osinka, A Pasternak, K AF Osinka, Anna Pasternak, Kazimierz TI MERCURY IN MEDICINE AND HEALTH SERVICE SO JOURNAL OF ELEMENTOLOGY LA English DT Review DE mercury; methylmercury; ethylmercury; thiomersal; toxicity ID DISTURBED MICROTUBULE FUNCTION; MOLECULAR-MECHANISMS; GLUTATHIONE DEPLETION; OXIDATIVE STRESS; CELLS; NEUROTOXICITY; METHYLMERCURY; GENOTOXICITY; SALTS AB People are most often exposed to mercury in water, amalgam dental fillings, vaccines with ethylmercury as a preservative and in methylmercury containing fish. Foetuses and children are most susceptible to toxic mercury, which passes to their organisms through the placenta or with mother's milk. Distribution of mercury in organs depends on the type of compound absorbed and duration of exposure. Mercury is mainly absorbed through the respiratory system. There are two types of mercury poisoning: acute and chronic. The critical organs for acute poisoning with mercury vapour are the lungs. Acute poisoning develops when large amounts of mercury are inhaled, which may lead to acute bronchitis, bronchiolitis and pneumonia. Chronic exposure to mercury vapour primarily affects the central nervous system. Mercury is considered as a contributing factor in aetiology of numerous disorders, including neurologic, renal, immunological, cardiologic, reproductive or even genetic abnormalities. Studies have demonstrated the correlation between mercury toxicity and pathogenesis of Alzheimer's or Parkinson's disease, autism and multiple sclerosis. Mercury may be involved in four processes which lead to genotoxicity: generation of free radicals and oxidative stress, effects on microtubules and on DNA repair mechanisms as well as direct interaction with DNA molecules. C1 [Osinka, Anna; Pasternak, Kazimierz] Med Univ Lublin, Lublin, Poland. RP Osinka, A (reprint author), Med Univ Lublin, Lublin, Poland. 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PD MAR PY 2014 VL 19 IS 1 BP 289 EP 297 DI 10.5601/jelem.2014.19.1.587 PG 9 WC Environmental Sciences SC Environmental Sciences & Ecology GA AI0AW UT WOS:000336509600024 ER PT J AU Bivona, U Riccio, A Ciurli, P Carlesimo, GA Delle Donne, V Pizzonia, E Caltagirone, C Formisano, R Costa, A AF Bivona, Umberto Riccio, Angela Ciurli, Paola Carlesimo, Giovanni Augusto Delle Donne, Valentina Pizzonia, Elisa Caltagirone, Carlo Formisano, Rita Costa, Alberto TI Low Self-Awareness of Individuals With Severe Traumatic Brain Injury Can Lead to Reduced Ability to Take Another Person's Perspective SO JOURNAL OF HEAD TRAUMA REHABILITATION LA English DT Article DE empathy; self-awareness; Theory of Mind; traumatic brain injury ID COMPETENCE RATING-SCALE; HIGH-FUNCTIONING AUTISM; FRONTAL-LOBE DAMAGE; CLOSED-HEAD-INJURY; FRONTOTEMPORAL DEMENTIA; NEURAL BASIS; MULTIDIMENSIONAL APPROACH; SOCIAL-INTERACTION; EXECUTIVE FUNCTION; PREFRONTAL CORTEX AB Aims of this study were (i) to verify whether a deficit or a lack of self-awareness can lead to difficulties in assuming another person's perspective after a severe traumatic brain injury (TBI); (ii) to verify whether perspective-taking deficits emerge more from performance-based tasks than self-reports; and (iii) to evaluate the possible relationships between perspective-taking difficulties and some clinical, neuropsychological, neuropsychiatric, and neuroimaging variables. The Interpersonal Reactivity Index, Empathy Quotient, first-order false-belief, and faux pas written stories were administered to 28 patients with severe TBI and 28 healthy controls. The Awareness Questionnaire was also administered to TBI patients and their caregivers. Patients were split into 2 groups (impaired self-awareness vs adequate self-awareness) on the basis of the discrepancy Awareness Questionnaire score. Both TBI groups obtained lower scores than healthy controls on the Fantasy subscale of the Interpersonal Reactivity Index, the reality question of the false-belief stories, and the memory questions of the faux pas test. Only impaired self-awareness patients tended to obtain lower scores in first-order false-belief detection. Impaired self-awareness patients also performed significantly worse than both healthy controls and adequate self-awareness patients on the faux pas tasks. The analysis suggests a causal relationship between low self-awareness and perspective-taking difficulties in this population of patients. C1 [Bivona, Umberto; Riccio, Angela; Ciurli, Paola; Carlesimo, Giovanni Augusto; Delle Donne, Valentina; Pizzonia, Elisa; Caltagirone, Carlo; Formisano, Rita; Costa, Alberto] Santa Lucia Fdn, Rome, Italy. [Carlesimo, Giovanni Augusto; Caltagirone, Carlo] Univ Roma Tor Vergata, Rome, Italy. RP Bivona, U (reprint author), IRCCS Fdn Santa Lucia, Via Ardeatina 306, I-00179 Rome, Italy. 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PD MAR-APR PY 2014 VL 29 IS 2 BP 157 EP 171 DI 10.1097/HTR.0b013e3182864f0b PG 15 WC Clinical Neurology; Rehabilitation SC Neurosciences & Neurology; Rehabilitation GA AH9ZH UT WOS:000336504600010 PM 23524876 ER PT J AU Duane, DD Stadel, A Tokyuama, M Rayes, D AF Duane, Drake D. Stadel, Amanda Tokyuama, Mimi Rayes, Diana TI A Retrospective Multidimensional Comparison of Referred DSM-IV Autism and Asperger Prepubertal Children: Do They Qualify Under DSM-5? SO JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU AMER PSYCHIATRIC PUBLISHING, INC PI ARLINGTON PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA SN 0895-0172 EI 1545-7222 J9 J NEUROPSYCH CLIN N JI J. Neuropsychiatr. Clin. Neurosci. PD SPR PY 2014 VL 26 IS 2 MA P43 BP 14 EP 15 PG 2 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA AI0HF UT WOS:000336526200088 ER PT J AU Rout, UK Michener, MS Dhossche, DM AF Rout, Ujjwal K. Michener, Meeta Shah Dhossche, Dirk M. TI GAD65 Autoantibodies in Kleine-Levin Syndrome SO JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES LA English DT Letter ID BLOOD-BRAIN-BARRIER; IMPAIRMENT; ANTIBODY; NEURONS; DISEASE; AUTISM; CELLS; MODEL C1 [Rout, Ujjwal K.] Univ Mississippi, Med Ctr, Dept Surg Physiol & Biophys, Jackson, MS 39216 USA. [Michener, Meeta Shah; Dhossche, Dirk M.] Univ Mississippi, Med Ctr, Dept Psychiat & Human Behav, Jackson, MS 39216 USA. RP Rout, UK (reprint author), Univ Mississippi, Med Ctr, Dept Surg Physiol & Biophys, Jackson, MS 39216 USA. 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Neuropsychiatr. Clin. Neurosci. PD SPR PY 2014 VL 26 IS 2 BP E49 EP E51 PG 3 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA AI0HF UT WOS:000336526200029 PM 24763794 ER PT J AU Rzhetsky, A Bagley, SC Wang, K Lyttle, CS Cook, EH Altman, RB Gibbons, RD AF Rzhetsky, Andrey Bagley, Steven C. Wang, Kanix Lyttle, Christopher S. Cook, Edwin H., Jr. Altman, Russ B. Gibbons, Robert D. TI Environmental and State-Level Regulatory Factors Affect the Incidence of Autism and Intellectual Disability SO PLOS COMPUTATIONAL BIOLOGY LA English DT Article ID PATERNAL OCCUPATIONAL-EXPOSURE; CARDIOVASCULAR BIRTH-DEFECTS; FEMALE SEX-HORMONES; DE-NOVO MUTATIONS; PRENATAL EXPOSURE; CONGENITAL-MALFORMATIONS; MATERNAL OCCUPATION; SPECTRUM DISORDERS; CHARGE SYNDROME; DATA REANALYSIS AB Many factors affect the risks for neurodevelopmental maladies such as autism spectrum disorders (ASD) and intellectual disability (ID). To compare environmental, phenotypic, socioeconomic and state-policy factors in a unified geospatial framework, we analyzed the spatial incidence patterns of ASD and ID using an insurance claims dataset covering nearly one third of the US population. Following epidemiologic evidence, we used the rate of congenital malformations of the reproductive system as a surrogate for environmental exposure of parents to unmeasured developmental risk factors, including toxins. Adjusted for gender, ethnic, socioeconomic, and geopolitical factors, the ASD incidence rates were strongly linked to population-normalized rates of congenital malformations of the reproductive system in males (an increase in ASD incidence by 283% for every percent increase in incidence of malformations, 95% CI: [91%, 576%], p < 6x10(-5)). Such congenital malformations were barely significant for ID (94% increase, 95% CI: [1%, 250%], p = 0.0384). Other congenital malformations in males (excluding those affecting the reproductive system) appeared to significantly affect both phenotypes: 31.8% ASD rate increase (CI: [12%, 52%], p < 6x10(-5)), and 43% ID rate increase (CI: [23%, 67%], p < 6x10(-5)). Furthermore, the state-mandated rigor of diagnosis of ASD by a pediatrician or clinician for consideration in the special education system was predictive of a considerable decrease in ASD and ID incidence rates (98.6%, CI: [28%, 99.99%], p = 0.02475 and 99% CI: [68%, 99.99%], p = 0.00637 respectively). Thus, the observed spatial variability of both ID and ASD rates is associated with environmental and state-level regulatory factors; the magnitude of influence of compound environmental predictors was approximately three times greater than that of state-level incentives. The estimated county-level random effects exhibited marked spatial clustering, strongly indicating existence of as yet unidentified localized factors driving apparent disease incidence. Finally, we found that the rates of ASD and ID at the county level were weakly but significantly correlated (Pearson product-moment correlation 0.0589, p = 0.00101), while for females the correlation was much stronger (0.197, p < 2.26x10(-16)). C1 [Rzhetsky, Andrey] Univ Chicago, Dept Med, Chicago, IL 60637 USA. [Rzhetsky, Andrey; Wang, Kanix] Univ Chicago, Inst Genom & Syst Biol, Chicago, IL 60637 USA. [Rzhetsky, Andrey] Univ Chicago, Dept Human Genet, Computat Inst, Chicago, IL 60637 USA. [Bagley, Steven C.] Stanford Univ, Dept Genet, Stanford, CA 94305 USA. [Wang, Kanix] Univ Chicago, Comm Genet Gen & Syst Biol, Chicago, IL 60637 USA. [Lyttle, Christopher S.] Univ Chicago, Ctr Hlth & Social Sci, Chicago, IL 60637 USA. [Cook, Edwin H., Jr.] Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA. [Altman, Russ B.] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA. [Altman, Russ B.] Stanford Univ, Dept Med, Stanford, CA 94305 USA. [Altman, Russ B.] Stanford Univ, Dept Comp Sci, Stanford, CA 94305 USA. [Gibbons, Robert D.] Univ Chicago, Dept Med, Ctr Hlth Stat, Chicago, IL 60637 USA. [Gibbons, Robert D.] Univ Chicago, Dept Hlth Studies, Ctr Hlth Stat, Chicago, IL 60637 USA. RP Rzhetsky, A (reprint author), Univ Chicago, Dept Med, 5841 S Maryland Ave, Chicago, IL 60637 USA. EM arzhetsky@uchicago.edu FU NIH [1P50MH094267, U01HL108634-01]; Chicago Biomedical Consortium FX This work was supported by NIH grants 1P50MH094267, U01HL108634-01, and Lever Award from the Chicago Biomedical Consortium. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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PD MAR PY 2014 VL 10 IS 3 AR e1003518 DI 10.1371/journal.pcbi.1003518 PG 11 WC Biochemical Research Methods; Mathematical & Computational Biology SC Biochemistry & Molecular Biology; Mathematical & Computational Biology GA AI0AQ UT WOS:000336509000034 PM 24625521 ER PT J AU Richey, JA Rittenberg, A Hughes, L Damiano, CR Sabatino, A Miller, S Hanna, E Bodfish, JW Dichter, GS AF Richey, John A. Rittenberg, Alison Hughes, Lauren Damiano, Cara R. Sabatino, Antoinette Miller, Stephanie Hanna, Eleanor Bodfish, James W. Dichter, Gabriel S. TI Common and distinct neural features of social and non-social reward processing in autism and social anxiety disorder SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE LA English DT Article DE autism; social anxiety disorder; nucleus accumbens; ventromedial prefrontal cortex; functional magnetic resonance imaging; reward ID EVENT-RELATED FMRI; SPECTRUM DISORDERS; AMYGDALA ACTIVATION; FUNCTIONING AUTISM; INCENTIVE SALIENCE; MAJOR DEPRESSION; DOPAMINE NEURONS; POSITIVE AFFECT; MOOD DISORDERS; BRAIN IMAGES AB Autism spectrum disorders (ASDs) and social anxiety disorder (SAD) are both characterized by social dysfunction, but no study to date has compared neural responses to social rewards in ASDs and SAD. Neural responses during social and non-social reward anticipation and outcomes were examined in individuals with ASD (n = 16), SAD (n = 15) and a control group (n = 19) via functional magnetic resonance imaging. Analyses modeling all three groups revealed increased nucleus accumbens (NAc) activation in SAD relative to ASD during monetary reward anticipation, whereas both the SAD and ASD group demonstrated decreased bilateral NAc activation relative to the control group during social reward anticipation. During reward outcomes, the SAD group did not differ significantly from the other two groups in ventromedial prefrontal cortex activation to either reward type. Analyses comparing only the ASD and SAD groups revealed greater bilateral amygdala activation to social rewards in SAD relative to ASD during both anticipation and outcome phases, and the magnitude of left amygdala hyperactivation in the SAD group during social reward anticipation was significantly correlated with the severity of trait anxiety symptoms. Results suggest reward network dysfunction to both monetary and social rewards in SAD and ASD during reward anticipation and outcomes, but that NAc hypoactivation during monetary reward anticipation differentiates ASD from SAD. C1 [Richey, John A.; Rittenberg, Alison; Miller, Stephanie; Hanna, Eleanor; Bodfish, James W.; Dichter, Gabriel S.] Univ N Carolina, Chapel Hill Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA. [Hughes, Lauren] Duke Univ, Dept Psychol & Neurosci, Durham, NC 27708 USA. [Damiano, Cara R.; Sabatino, Antoinette; Dichter, Gabriel S.] Univ N Carolina, Dept Psychol, Chapel Hill, NC 27599 USA. [Bodfish, James W.; Dichter, Gabriel S.] Univ N Carolina, Chapel Hill Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA. [Dichter, Gabriel S.] Duke Univ, Med Ctr, Duke UNC Brain Imaging & Anal Ctr, Durham, NC 27710 USA. [Dichter, Gabriel S.] Duke Univ, Med Ctr, Dept Psychiat & Behav Sci, Durham, NC 27710 USA. RP Dichter, GS (reprint author), Univ N Carolina, Chapel Hill Sch Med, Carolina Inst Dev Disabil, CB 7255,101 Renee Lynne Court, Chapel Hill, NC 27599 USA. EM dichter@med.unc.edu FU Foundation of Hope for the Research and Treatment of Mental Illness; NIMH [K23 MH081285]; NICHD [T32-HD40127]; Dennis Weatherstone Predoctoral Fellowship from Autism Speaks [7413]; [H325D070011]; [R01 MH073402] FX Assistance for this study was provided by the Participant Registry Core of the UNC Carolina Institute for Developmental Disabilities [P30 HD03110]. This research was supported by the Foundation of Hope for the Research and Treatment of Mental Illness [to G. S. D.]; NIMH K23 MH081285 [to G. S. D.]; R01 MH073402 [to J.W.B. and G. S. D.]; NICHD T32-HD40127 [J.A.R.]; by a Dennis Weatherstone Predoctoral Fellowship from Autism Speaks [7413 to C.R.D.] and by H325D070011 [to A.S.]. 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Cogn. Affect. Neurosci. PD MAR PY 2014 VL 9 IS 3 BP 367 EP 377 DI 10.1093/scan/nss146 PG 11 WC Neurosciences; Psychology; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA AH9UG UT WOS:000336488300014 PM 23223206 ER PT J AU Vanderver, A Tonduti, D Kahn, I Schmidt, J Medne, L Vento, J Chapman, KA Lanpher, B Pearl, P Gropman, A Lourenco, C Bamforth, JS Sharpe, C Pineda, M Schallner, J Bodamer, O Orcesi, S Oberstein, SAJL Sistermans, EA Yntema, HG Bonnemann, C Waldman, AT van der Knaap, MS AF Vanderver, Adeline Tonduti, Davide Kahn, Ilana Schmidt, Johanna Medne, Livija Vento, Jodie Chapman, Kimberly A. Lanpher, Brendan Pearl, Phillip Gropman, Andrea Lourenco, Charles Bamforth, John-Steven Sharpe, Cynthia Pineda, Mercedes Schallner, Jens Bodamer, Olaf Orcesi, Simona Oberstein, Saskia A. J. Lesnik Sistermans, Erik A. Yntema, Helger G. Bonnemann, Carsten Waldman, Amy T. van der Knaap, Marjo S. TI Characteristic Brain Magnetic Resonance Imaging Pattern in Patients With Macrocephaly and PTEN Mutations SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE macrocephaly; perivascular; autism spectrum disorder; magnetic resonance imaging; genetics; PTEN; hamartoma; leukoencephalopathy ID RILEY-RUVALCABA-SYNDROME; AUTISM SPECTRUM DISORDERS; LHERMITTE-DUCLOS-DISEASE; COWDEN-SYNDROME; PROTEUS SYNDROME; GERMLINE; TUMOR; GENE; HYPOMELANOSIS; PREVALENCE AB We describe an MRI phenotype seen in a series of patients with mutations in PTEN who have clinical features consistent with PTEN hamartoma tumor syndrome (PHTS). Retrospective review of clinical data and MRI was performed in 23 subjects evaluated in four different tertiary care centers with clinical programs in inherited disorders of the white matter. Patients were referred due to abnormal MRI features and abnormal PTEN sequencing was identified. All subjects had significant macrocephaly (on average >4 SD above the mean), developmental delay with or without autism spectrum disorder and uniform MRI features of enlarged perivascular spaces and multifocal periventricular white matter abnormalities. The phenotype of PHTS may include MRI abnormalities such as multifocal periventricular white matter abnormalities and enlarged perivascular spaces. These neuroimaging findings, in association with macrocephaly and developmental delay, should prompt consideration of PTEN as a diagnostic possibility. (c) 2013 Wiley Periodicals, Inc. C1 [Vanderver, Adeline; Schmidt, Johanna; Pearl, Phillip; Gropman, Andrea] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA. [Tonduti, Davide] Univ Pavia, Dept Brain & Behav Sci, Child Neuropsychiat Unit, I-27100 Pavia, Italy. [Kahn, Ilana] Childrens Natl Med Ctr, Dept Pediat, Washington, DC 20010 USA. [Medne, Livija; Waldman, Amy T.] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA. [Vento, Jodie] Childrens Hosp Pittsburgh, UPMC, Div Child Neurol, Pittsburgh, PA 15213 USA. [Chapman, Kimberly A.; Lanpher, Brendan] Childrens Natl Med Ctr, Dept Genet, Washington, DC 20010 USA. [Lourenco, Charles] Univ Sao Paulo, Clin Hosp Ribeirao Preto, Neurogenet Unit, Sao Paulo, Brazil. [Bamforth, John-Steven] Univ Alberta Hosp, Med Genet Clin, Edmonton, AB T6G 2B7, Canada. [Sharpe, Cynthia] Starship Childrens Hosp, Paediat Neurol, Auckland, New Zealand. [Pineda, Mercedes] Hosp San Juan Dios, Barcelona, Spain. [Schallner, Jens] Uniklin Dresden, Klin & Poliklin Kinder & Jugendmed, Dresden, Germany. [Bodamer, Olaf] Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA. [Orcesi, Simona] C Mondino Natl Neurol Inst, Child Neurol & Psychiat Unit, Pavia, Italy. [Oberstein, Saskia A. J. Lesnik] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands. [Sistermans, Erik A.] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands. [Yntema, Helger G.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands. [Bonnemann, Carsten] Natl Inst Neurol Disorders & Stroke, NIH, Bethesda, MD USA. [van der Knaap, Marjo S.] Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, Amsterdam, Netherlands. RP Vanderver, A (reprint author), Childrens Natl Med Ctr, 111 Michigan Ave,NW, Washington, DC 20010 USA. EM avanderv@childrensnational.org FU Myelin Disorders Bioregistry Project FX Grant sponsor: Myelin Disorders Bioregistry Project. 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J. Med. Genet. A PD MAR PY 2014 VL 164 IS 3 BP 627 EP 633 DI 10.1002/ajmg.a.36309 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA AB7NZ UT WOS:000331978700008 PM 24375884 ER PT J AU Kamien, B Harraway, J Lundie, B Smallhorne, L Gibbs, V Heath, A Fullerton, JM AF Kamien, Benjamin Harraway, James Lundie, Ben Smallhorne, Lex Gibbs, Vicki Heath, Anna Fullerton, Janice M. TI Characterization of a 520 kb Deletion on Chromosome 15q26.1 Including ST8SIA2 in a Patient With Behavioral Disturbance, Autism Spectrum Disorder, and Epilepsy SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE ST8SIA2; C15ORF32; FAM174B; epilepsy; autism spectrum disorder; genetic susceptibility; oligonucleotide microarray ID CONGENITAL DIAPHRAGMATIC-HERNIA; CELL-ADHESION MOLECULE; GENOME-WIDE SCAN; POLYSIALIC ACID; SUSCEPTIBILITY LOCUS; BIPOLAR DISORDER; SCHIZOPHRENIA; ASSOCIATION; BRAIN; GENE AB We present a patient with a behavioral disorder, epilepsy, and autism spectrum disorder who has a 520kb chromosomal deletion at 15q26.1 encompassing three genes: ST8SIA2, C15orf32, and FAM174B. Alpha-2,8-Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain and appears to play an important role in neuronal migration, axon guidance and synaptic plasticity. It has recently been implicated in a genome wide association study as a potential factor underlying autism, and has also been implicated in the pathogenesis of bipolar disorder and schizophrenia. This case provides supportive evidence that ST8SIA2 haploinsufficiency may play a role in neurobehavioral phenotypes. (c) 2013 Wiley Periodicals, Inc. C1 [Kamien, Benjamin] Hunter Genet, Waratah, NSW 2298, Australia. [Kamien, Benjamin] Univ Newcastle, Sch Med & Publ Hlth, Newcastle, NSW, Australia. [Harraway, James; Lundie, Ben; Smallhorne, Lex] Sullivan Nicolaides Pathol, Brisbane, Qld, Australia. [Gibbs, Vicki] Autism Spectrum Australia, Sydney, NSW, Australia. [Heath, Anna; Fullerton, Janice M.] Neurosci Res Australia, Sydney, NSW, Australia. [Fullerton, Janice M.] Univ New S Wales, Sch Med Sci, Sydney, NSW, Australia. RP Kamien, B (reprint author), Hunter Genet, POB 84, Waratah, NSW 2298, Australia. EM benkamien@yahoo.com.au FU National Health and Medical Research Council [630574, 1037196] FX Grant sponsor: National Health and Medical Research Council; Grant numbers: 630574, 1037196. 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J. Med. Genet. A PD MAR PY 2014 VL 164 IS 3 BP 782 EP 788 DI 10.1002/ajmg.a.36345 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA AB7NZ UT WOS:000331978700030 PM 24357335 ER PT J AU Ooi, YP Rescorla, L Sung, M Fung, DSS Woo, B Ang, RP AF Ooi, Yoon Phaik Rescorla, Leslie Sung, Min Fung, Daniel S. S. Woo, Bernardine Ang, Rebecca P. TI Comparisons between autism spectrum disorders and anxiety disorders: Findings from a clinic sample in Singapore SO ASIA-PACIFIC PSYCHIATRY LA English DT Article DE anxiety disorder; autism spectrum disorder; child behavior checklist; teacher report form ID CHILD-BEHAVIOR CHECKLIST; REPORTED PROBLEMS; ASPERGER-SYNDROME; DSM-IV; PARENT; PREVALENCE; CBCL; SYMPTOMS; TEACHER; IDENTIFICATION AB IntroductionThe goals of the present study were to: (i) examine similarities and differences in behavioral/emotional problems manifested by children with autism spectrum disorder (ASD) and those with anxiety disorder (ANX); (ii) test the ability of each of the eight child behavioral checklist (CBCL) and teacher report form (TRF) syndrome scales to differentiate the ASD group from the ANX group; and (iii) test the ability of an ASD scale derived by Ooi etal. to differentiate the ASD group from the ANX group. MethodsArchival CBCL and TRF data from 180 children between 4 and 18 years of age (119 males, 61 females) diagnosed with ASD (n=86) or ANX (n=94) at an outpatient child psychiatric clinic in Singapore were analyzed. ResultsThe ASD group scored significantly higher on Social Problems and Attention Problems but significantly lower on Anxious/Depressed and Somatic Complaints than the ANX group. The groups did not show significant differences on Withdrawn/Depressed and Thought Problems. Both the CBCL and TRF ASD scales were significant predictors of the ASD group, with moderate to high sensitivity and specificity. DiscussionOur findings for an Asian sample support the diagnostic overlap between ASD and ANX reported for Western samples and underscore the importance of treating ASD as both a unitary disease and as a web of overlapping configurations of underlying problem dimensions. C1 [Ooi, Yoon Phaik; Sung, Min; Fung, Daniel S. S.; Woo, Bernardine] Inst Mental Hlth, Dept Child & Adolescent Psychiat, Singapore, Singapore. [Ooi, Yoon Phaik; Fung, Daniel S. S.] DUKE NUS Grad Med Sch Singapore, Singapore, Singapore. [Ooi, Yoon Phaik] Univ Basel, Dept Psychol, Basel, Switzerland. [Rescorla, Leslie] Bryn Mawr Coll, Inst Child Study, Philadelphia, PA USA. [Fung, Daniel S. S.; Ang, Rebecca P.] Nanyang Technol Univ, Sch Humanities & Social Sci, Div Psychol, Singapore 639798, Singapore. RP Ooi, YP (reprint author), Child Guidance Clin, 3 Second Hosp Ave,03-01 Hlth Promot Board Bldg, Singapore 168937, Singapore. EM yoon_phaik_ooi@imh.com.sg RI Ooi, Yoon Phaik/D-3944-2015 CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE Achenbach TM, 1991, MANUAL CHILD BEHAV C Ang RP, 2012, CHILD PSYCHIAT HUM D, V43, P70, DOI 10.1007/s10578-011-0253-2 Aschenbrand SG, 2005, J CLIN CHILD ADOLESC, V34, P735, DOI 10.1207/s15374424jccp3404_15 Barbaresi WJ, 2009, J AUTISM DEV DISORD, V39, P464, DOI 10.1007/s10803-008-0645-8 Baron-Cohen S, 2009, BRIT J PSYCHIAT, V194, P500, DOI 10.1192/bjp.bp.108.059345 Bolte S, 1999, PSYCHOPATHOLOGY, V32, P93, DOI 10.1159/000029072 Bryson S. E., 1996, J AUTISM DEV DISORD, V26, P65 Choudhury MS, 2003, J AM ACAD CHILD PSY, V42, P957, DOI 10.1097/01.CHI.0000046898.27264.A2 Cohen J., 1988, STAT POWER ANAL BEHA, V2nd de Bruin EI, 2007, J AUTISM DEV DISORD, V37, P877, DOI 10.1007/s10803-006-0215-x DELONG ER, 1988, BIOMETRICS, V44, P837, DOI 10.2307/2531595 Duarte CS, 2003, J AUTISM DEV DISORD, V33, P703, DOI 10.1023/B:JADD.0000006005.31818.1c Edwards M. 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Psychiatry PD MAR PY 2014 VL 6 IS 1 BP 46 EP 53 DI 10.1111/j.1758-5872.2012.00228.x PG 8 WC Psychiatry SC Psychiatry GA AB1LE UT WOS:000331552400006 PM 23857779 ER PT J AU Suzumura, S AF Suzumura, Shunsuke TI Impact of attention deficit hyperactivity disorder- like symptoms on the clinical features of adolescents with pervasive developmental disorders SO ASIA-PACIFIC PSYCHIATRY LA English DT Article DE adolescent; attention deficit hyperactivity disorder; autism spectrum disorders; comorbidity; diagnosis ID ASPERGER-SYNDROME; DEFICIT/HYPERACTIVITY DISORDER; CHILDREN; AUTISM; PDD; COMORBIDITY; PATTERNS; SAMPLE; PARENT AB IntroductionAttention Deficit Hyperactivity Disorder (ADHD)-like symptoms are common among children and adolescents with Pervasive Developmental Disorders (PDD). The purpose of this study was to assess the impact of ADHD-like symptoms on the clinical features of adolescents with PDD. MethodsA total of 72 subjects (between the ages of 12 and 17) diagnosed as having PDD were split into higher (ADHD+) and lower (ADHD-) groups according to the presence of ADHD-like symptoms as assessed with the Japanese version of the ADHD Rating Scale-IV (ADHD-RS-IV-J). Group differences in coexisting psychopathology, as assessed by the eight subscales of the Japanese version of the Child Behavior Checklist for Ages 4-18 (CBCL/4-18-J) and autistic core features, as assessed by the adolescent part of the PDD-Autism Society of Japan Rating Scale (PARS), were examined. ResultsThe ADHD+subjects showed a significantly higher degree of general psychopathology, including both externalizing and internalizing symptoms, as compared to subjects in the ADHD- subgroup. Additionally, the ADHD+subgroup showed greater impairment according to PARS scores. DiscussionThese results indicate an important role of ADHD-like symptoms in PDD. Therefore, parents/caregivers may find it useful to know to what extent their child's ADHD-like symptoms deviate from the norm for PDD adolescents and the implications of these symptoms for long-term care. In addition, clinicians would be well advised to consider further systematic assessment of ADHD-like symptoms. C1 [Suzumura, Shunsuke] Tokyo Metropolitan Otsuka Hosp, Toshima Ku, Tokyo 1708476, Japan. RP Suzumura, S (reprint author), Tokyo Metropolitan Otsuka Hosp, Dept Child Psychiat, Toshima Ku, 2-8-1 Minami Ohtsuka, Tokyo 1708476, Japan. EM s.suzumura@umin.ac.jp FU Ministry of Health, Labour and Welfare, Japan [H19-Kokoro-Ippan-012] FX The author wishes to thank Dr Eizaburo Tanaka for his assistance with data collection. This study was supported, in part, by a grant-in-aid (H19-Kokoro-Ippan-012) from the Ministry of Health, Labour and Welfare, Japan. CR Achenbach T. 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Psychiatry PD MAR PY 2014 VL 6 IS 1 BP 71 EP 76 DI 10.1111/j.1758-5872.2012.00221.x PG 6 WC Psychiatry SC Psychiatry GA AB1LE UT WOS:000331552400009 PM 23857705 ER PT J AU Wilson, H AF Wilson, Hannah TI Potential biomarkers of autism Foreword SO BIOMARKERS IN MEDICINE LA English DT Editorial Material C1 Future Med Ltd, London N3 1QB, England. RP Wilson, H (reprint author), Future Med Ltd, Unitec House,2 Albert Pl, London N3 1QB, England. 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SO BIOMARKERS IN MEDICINE LA English DT Editorial Material DE autism spectrum disorder; mitochodrial function; kynurenine pathway; oxidative stress; tryptophan metabolism ID OXIDATIVE STRESS; SEROTONIN; MELATONIN; TWIN AB "...it is quite possible that impairment of the metabolism of tryptophan... provides the unifying model that explains the heterogeneity of autism spectrum disorder..." C1 Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA. RP Schwartz, CE (reprint author), Greenwood Genet Ctr, JC Self Res Inst, 113 Gregor Mendel Circle, Greenwood, SC 29646 USA. 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Med. PD MAR PY 2014 VL 8 IS 3 BP 313 EP 315 DI 10.2217/bmm.14.11 PG 3 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA AE4RN UT WOS:000333970700002 PM 24712420 ER PT J AU Steinman, G Mankuta, D AF Steinman, Gary Mankuta, David TI Umbilical cord biomarkers in autism determination SO BIOMARKERS IN MEDICINE LA English DT Editorial Material ID GROWTH-FACTOR-I; CEREBROSPINAL-FLUID; CHILDREN C1 [Steinman, Gary] Touro Coll Osteopath Med, Dept Biochem, New York, NY 10027 USA. [Mankuta, David] Hadassah Hebrew Univ Hosp, Dept Obstet & Gynecol, Jerusalem, Israel. RP Steinman, G (reprint author), Touro Coll Osteopath Med, Dept Biochem, 230 West 125th St, New York, NY 10027 USA. 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Med. PD MAR PY 2014 VL 8 IS 3 BP 317 EP 319 DI 10.2217/bmm.13.145 PG 3 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA AE4RN UT WOS:000333970700003 PM 24712421 ER PT J AU Frye, RE James, SJ AF Frye, Richard E. James, S. Jill TI Metabolic pathology of autism in relation to redox metabolism SO BIOMARKERS IN MEDICINE LA English DT Review DE autism; folate; glutathione; methylation; mitochondria; oxidative stress; redox ID CEREBRAL FOLATE-DEFICIENCY; DE-NOVO MUTATIONS; SPECTRUM DISORDERS; OXIDATIVE STRESS; DOUBLE-BLIND; RECEPTOR AUTOIMMUNITY; MITOCHONDRIAL DISEASE; DNA HYPOMETHYLATION; CLINICAL-TRIAL; FOLINIC ACID AB An imbalance in glutathione-dependent redox metabolism has been shown to be associated with autism spectrum disorder (ASD). Glutathione synthesis and intracellular redox balance are linked to folate and methylation metabolism, metabolic pathways that have also been shown to be abnormal in ASD. Together, these metabolic abnormalities define a distinct ASD endophenotype that is closely associated with genetic, epigenetic and mitochondrial abnormalities, as well as environmental factors related to ASD. Biomarkers that reflect these metabolic abnormalities will be discussed in the context of an ASD metabolic endophenotype that may lead to a better understanding of the pathophysiological mechanisms underlying core and associated ASD symptoms. Last, we discuss how these biomarkers have been used to guide the development of novel ASD treatments. C1 [Frye, Richard E.; James, S. Jill] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Dept Pediat, Little Rock, AR 72202 USA. RP Frye, RE (reprint author), Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Dept Pediat, Slot 512-41B,13 Childrens Way, Little Rock, AR 72202 USA. 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Many affected individuals also display symptoms of gastrointestinal (GI) disturbance, suggesting GI factors may play an important role in the pathogenesis of ASD and/or related complications. The current review will focus on evidence supporting a role for the GI microbiota and their fermentation products in the etiology and/or symptoms of ASD, and their potential use as biomarkers. GI-related biomarkers could potentially enable early identification of ASD at risk of GI disturbance, and thereby guide targeted interventions, potentially improving the health and quality of life of affected individuals. C1 [Wang, Lv; Angley, Manya Therese] Univ S Australia, Sansom Inst Hlth Res, Adelaide, SA 5001, Australia. [Conlon, Michael Allan; Christophersen, Claus Thagaard] CSIRO Anim Food & Hlth Sci, Preventat Hlth Natl Res Flagship, Adelaide, SA 5001, Australia. [Sorich, Michael Joseph] Flinders Univ S Australia, Sch Med, Adelaide, SA 5001, Australia. RP Angley, MT (reprint author), Univ S Australia, Sansom Inst Hlth Res, GPO Box 2471, Adelaide, SA 5001, Australia. 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The etiology of ASD is not well understood, although many factors have been associated with its pathogenesis, such genetic, neurological, environmental and immunological factors. Several studies have reported the production of numerous autoantibodies that react with specific brain proteins and brain tissues in autistic children and alter the function of the attacked brains tissue. In addition, the potential role of maternal autoantibodies to the fatal brain in the etiology of some cases of autism has also been reported. Identification and understanding of the role of brain autoantibodies as biological biomarkers may allow earlier detection of ASD, lead to a better understanding of the pathogenesis of ASD and have important therapeutic implications. C1 [Elamin, Nadra E.; AL-Ayadhi, Laila Y.] King Saud Univ, Fac Med, Autism Res & Treatment Ctr, Shaik AL Amodi Autism Res Chair, Riyadh 11461, Saudi Arabia. [AL-Ayadhi, Laila Y.] King Saud Univ, Dept Physiol, Fac Med, Riyadh 11461, Saudi Arabia. RP AL-Ayadhi, LY (reprint author), King Saud Univ, Fac Med, Autism Res & Treatment Ctr, Shaik AL Amodi Autism Res Chair, Riyadh 11461, Saudi Arabia. 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Med. PD MAR PY 2014 VL 8 IS 3 BP 345 EP 352 DI 10.2217/bmm.14.1 PG 8 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA AE4RN UT WOS:000333970700006 PM 24712424 ER PT J AU Rojas, DC Wilson, LB AF Rojas, Donald C. Wilson, Lisa B. TI gamma-band abnormalities as markers of autism spectrum disorders SO BIOMARKERS IN MEDICINE LA English DT Review DE EEG; glutamate; oscillations; MEG; phase locking; connectivity; GABA ID HIGH-FREQUENCY OSCILLATIONS; 1ST-DEGREE RELATIVES; RESONANCE-SPECTROSCOPY; FUNCTIONING AUTISM; GABA CONCENTRATION; BRAIN ACTIVITY; RESPONSES; CHILDREN; INDIVIDUALS; MEG AB Autism is a behaviorally diagnosed neurodevelopmental disorder with no current biomarkers with high specificity and sensitivity. gamma-band abnormalities have been reported in many studies of autism spectrum disorders. gamma-band activity is associated with perceptual and cognitive functions that are compromised in autism. Some gamma-band deficits have also been seen in unaffected first-degree relatives, suggesting heritability of these findings. This review covers the published literature on gamma abnormalities in autism, the proposed mechanisms underlying the deficits and the potential for translation into new treatments. Although the utility of gamma-band metrics as diagnostic biomarkers is currently limited, such changes in autism are also useful as endophenotypes, for evaluating potential neural mechanisms, and for use as surrogate markers of treatment response to interventions. C1 [Rojas, Donald C.] Colorado State Univ, Dept Psychol, Ft Collins, CO 80523 USA. [Rojas, Donald C.; Wilson, Lisa B.] Univ Colorado, Dept Psychiat, Boulder, CO 80309 USA. RP Rojas, DC (reprint author), Colorado State Univ, Dept Psychol, Campus Delivery 1876, Ft Collins, CO 80523 USA. EM don.rojas@colostate.edu FU US NIH [MH082820, MH015442, HD041697] FX Funds for the preparation of this manuscript were provided by the US NIH grants MH082820, MH015442 and HD041697. 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. No writing assistance was utilized in the production of this manuscript. 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Med. PD MAR PY 2014 VL 8 IS 3 BP 353 EP 368 DI 10.2217/bmm.14.15 PG 16 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA AE4RN UT WOS:000333970700007 PM 24712425 ER PT J AU King, BH Navot, N Bernier, R Webb, SJ AF King, Bryan H. Navot, Noa Bernier, Raphael Webb, Sara Jane TI Update on diagnostic classification in autism SO CURRENT OPINION IN PSYCHIATRY LA English DT Review DE Asperger's disorder; autism spectrum disorder; DSM-5; pervasive developmental disorder ID SPECTRUM DISORDER; DSM-IV; CRITERIA; SCHIZOPHRENIA; TODDLERS AB Purpose of reviewIn the lead up to and following the recent publication of the DSM-5, the diagnostic construct of autism has received intense scrutiny.Recent findingsThis article briefly reviews the history of the diagnosis of autism, the changes that have occurred in the diagnosis over time, and the rationale for change. The most significant changes being introduced with the DSM-5 are highlighted, as well as some of the concerns that will be a focus of attention with respect to the potential impacts going forward.SummaryThe categorical divisions that characterized the pervasive developmental disorders are now collapsed into a single entity, autism spectrum disorder. The final DSM-5 criteria have yet to be formally compared prospectively against prior criteria, but early indications suggest that the boundaries around the pervasive developmental disorders have not been substantially altered. C1 [King, Bryan H.; Bernier, Raphael; Webb, Sara Jane] Seattle Childrens Hosp, Seattle, WA USA. [King, Bryan H.; Navot, Noa; Bernier, Raphael; Webb, Sara Jane] Univ Washington, Seattle, WA 98105 USA. RP King, BH (reprint author), Seattle Childrens Autism Ctr, 4800 Sand Point Way NE,POB 5371-M1-1, Seattle, WA 98105 USA. 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Opin. Psychiatr. PD MAR PY 2014 VL 27 IS 2 BP 105 EP 109 DI 10.1097/YCO.0000000000000040 PG 5 WC Psychiatry SC Psychiatry GA AG4HE UT WOS:000335379400003 PM 24441420 ER PT J AU Tonge, BJ Bull, K Brereton, A Wilson, R AF Tonge, Bruce J. Bull, Kerry Brereton, Avril Wilson, Rebecca TI A review of evidence-based early intervention for behavioural problems in children with autism spectrum disorder: the core components of effective programs, child-focused interventions and comprehensive treatment models SO CURRENT OPINION IN PSYCHIATRY LA English DT Review DE autism; behaviour problems; early intervention ID RANDOMIZED CONTROLLED-TRIAL; YOUNG-CHILDREN; INTELLECTUAL DISABILITY; NATURAL ENVIRONMENTS; SOCIAL-INTERACTION; TEACCH PROGRAM; METAANALYSIS; SUPPORT; EDUCATION; TODDLERS AB Purpose of reviewThis article reviews recent evidence and other earlier relevant articles regarding early intervention studies for children with autism spectrum disorder (ASD).Recent findingsThere is a well-established body of empirical evidence for the effectiveness of Early Intensive Behavioural Intervention (EIBI) with young children with ASD. The importance of parent skills training, education and positive behaviour support is also a key factor in influencing outcomes. Drug treatment is of short-term benefit for disruptive behaviour but long-term outcome and metabolic side-effects have not been studied.SummaryFew studies have measured the long-term value and effectiveness of early intervention treatments, and currently there are no articles published on effects into adulthood of such treatments. Such research would indicate whether early intervention results in reduced reliance on health services into adulthood. C1 [Tonge, Bruce J.; Bull, Kerry; Brereton, Avril; Wilson, Rebecca] Monash Univ, Ctr Dev Psychiat & Psychol, Notting Hill, Vic 3168, Australia. RP Tonge, BJ (reprint author), Monash Univ, Ctr Dev Psychiat & Psychol, Omnico Business Ctr, Bldg 2,270 Ferntree Gully Rd, Notting Hill, Vic 3168, Australia. 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Opin. Psychiatr. PD MAR PY 2014 VL 27 IS 2 BP 158 EP 165 DI 10.1097/YCO.0000000000000043 PG 8 WC Psychiatry SC Psychiatry GA AG4HE UT WOS:000335379400011 PM 24452070 ER PT J AU Behrouz, R AF Behrouz, Reza TI The prospects and predicaments of intravenous rt-PA in childhood ischemic stroke SO EXPERT REVIEW OF NEUROTHERAPEUTICS LA English DT Review DE acute stroke; ischemic stroke; stroke in children; thrombolysis; tissue plasminogen activator ID TISSUE-PLASMINOGEN ACTIVATOR; OF-THE-LITERATURE; PEDIATRIC STROKE; THROMBOLYTIC THERAPY; CHILDREN; MANAGEMENT; AUTISM AB One of the biggest conundrums in acute treatment of childhood arterial ischemic stroke is administration of intravenous recombinant tissue plasminogen activator. Although the benefit of this treatment is well-established in adults, the same effectiveness in children has not been demonstrated. Diversity of underlying causes of ischemic stroke in children and delay and uncertainty in diagnosis are some of the complexities that make intravenous thrombolysis elusive in this population. Physiological, pharmacological and developmental factors may also play roles in variable effect of intravenous recombinant tissue plasminogen activator in children. Current studies are aimed to determine the safety and efficacy of intravenous thrombolysis in carefully-selected children who would benefit the most from this procedure. C1 Ohio State Univ, Coll Med, Dept Neurol, Div Cerebrovasc Dis & Neurocrit Care, Columbus, OH 43210 USA. RP Behrouz, R (reprint author), Ohio State Univ, Coll Med, Dept Neurol, Div Cerebrovasc Dis & Neurocrit Care, 395 West 12th Ave,Suite 766, Columbus, OH 43210 USA. EM reza.behrouz@osumc.edu FU Genentech Inc FX R Behrouz has received an educational grant from Genentech Inc and serves on the editorial board of BMC Neurology. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. 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PD MAR PY 2014 VL 14 IS 3 BP 255 EP 259 DI 10.1586/14737175.2014.884927 PG 5 WC Clinical Neurology; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA AG8DE UT WOS:000335648200004 PM 24491039 ER PT J AU Zhou, T Yi, CL AF Zhou, Ting Yi, Chunli TI Parenting Styles and Parents' Perspectives on How Their Own Emotions Affect the Functioning of Children with Autism Spectrum Disorders SO FAMILY PROCESS LA English DT Article DE Autism Spectrum Disorder; Parenting Style; Emotion Transmission; Emotion-Symptom Link; Trastorno del espectro autista; estilo de crianza; transmision de emociones; vinculo entre las emociones y los sintomas ID YOUNG-CHILDREN; DEVELOPMENTAL-DISABILITIES; INTERACTION THERAPY; MENTAL-RETARDATION; BEHAVIOR PROBLEMS; STRESS; SUPPORT; MOTHERS; CHINA; INTERVENTION AB The grounded theory method was used to analyze the parenting styles used by caregivers to rear children with autism spectrum disorders (ASD) and to investigate parents' experiences regarding how to help their child overcome the symptoms. Thirty-two parents from 28 families of children with ASD in mainland China were interviewed. Analysis of interview transcripts revealed four patterns of parenting styles which varied in affiliation to the roles of caretaker and coach. Based on their experience, a sizable group of parents perceived that their own emotions influence the child's emotions and his/her symptoms. The results suggest the value of developing intervention programs on emotion regulation and positive parenting for the parents of children with ASD. Resumen Se utilizo el metodo de muestreo teorico para analizar los estilos de crianza utilizados por los cuidadores para criar ninos con trastornos del espectro autista (TEA) y para investigar las experiencias de los padres con respecto a como ayudar a su hijo a superar los sintomas. Se entrevisto a treinta y dos padres de veintiocho familias de ninos con TEA en China continental. Los analisis de las transcripciones de las entrevistas revelaron cuatro modelos de estilos de crianza que variaron en relacion con los roles de cuidador e instructor. Sobre la base de su experiencia, un grupo grande de padres percibieron que sus propias emociones influyen en las emociones del nino y sus sintomas. Los resultados sugieren el valor del desarrollo de programas de intervencion sobre regulacion de las emociones y crianza positiva para los padres de ninos con TEA. ?? ???????????????????????(ASD)?????,????????????????????????32???28?????????????????????????????????????????,???????????????????????????????????????????????????,????????????????????????????????? C1 [Zhou, Ting; Yi, Chunli] Peking Univ, Dept Psychol, Beijing 100871, Peoples R China. RP Yi, CL (reprint author), Peking Univ, Dept Psychol, 5 Yiheyuan Rd, Beijing 100871, Peoples R China. 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Process PD MAR PY 2014 VL 53 IS 1 BP 67 EP 79 DI 10.1111/famp.12058 PG 13 WC Psychology, Clinical; Family Studies SC Psychology; Family Studies GA AC8HB UT WOS:000332773000006 PM 24400727 ER PT J AU Ye, R Carneiro, AMD Han, Q Airey, D Sanders-Bush, E Zhang, B Lu, L Williams, R Blakely, RD AF Ye, R. Carneiro, A. M. D. Han, Q. Airey, D. Sanders-Bush, E. Zhang, B. Lu, L. Williams, R. Blakely, R. D. TI Quantitative trait loci mapping and gene network analysis implicate protocadherin-15 as a determinant of brain serotonin transporter expression SO GENES BRAIN AND BEHAVIOR LA English DT Article DE Antidepressant; BXD; microarray; network; protocadherin; QTL; serotonin; SLC5A7; SLC6A4; SLC6A3; TPH2; transcriptome; transporter; VMAT2 ID AUTISM SPECTRUM DISORDER; RESTLESS LEGS SYNDROME; INTELLECTUAL DISABILITY; CODING VARIATION; CARRIER PROTEIN; USHER-SYNDROME; ASSOCIATION; SUSCEPTIBILITY; CLONING; DISEASE AB Presynaptic serotonin (5-hydroxytryptamine, 5-HT) transporters (SERT) regulate 5-HT signaling via antidepressant-sensitive clearance of released neurotransmitter. Polymorphisms in the human SERT gene (SLC6A4) have been linked to risk for multiple neuropsychiatric disorders, including depression, obsessive-compulsive disorder and autism. Using BXD recombinant inbred mice, a genetic reference population that can support the discovery of novel determinants of complex traits, merging collective trait assessments with bioinformatics approaches, we examine phenotypic and molecular networks associated with SERT gene and protein expression. Correlational analyses revealed a network of genes that significantly associated with SERT mRNA levels. We quantified SERT protein expression levels and identified region- and gender-specific quantitative trait loci (QTLs), one of which associated with male midbrain SERT protein expression, centered on the protocadherin-15 gene (Pcdh15), overlapped with a QTL for midbrain 5-HT levels. Pcdh15 was also the only QTL-associated gene whose midbrain mRNA expression significantly associated with both SERT protein and 5-HT traits, suggesting an unrecognized role of the cell adhesion protein in the development or function of 5-HT neurons. To test this hypothesis, we assessed SERT protein and 5-HT traits in the Pcdh15 functional null line (Pcdh15(av-3J)), studies that revealed a strong, negative influence of Pcdh15 on these phenotypes. Together, our findings illustrate the power of multidimensional profiling of recombinant inbred lines in the analysis of molecular networks that support synaptic signaling, and that, as in the case of Pcdh15, can reveal novel relationships that may underlie risk for mental illness. C1 [Ye, R.; Carneiro, A. M. D.; Han, Q.; Airey, D.; Sanders-Bush, E.; Blakely, R. D.] Vanderbilt Univ, Sch Med, Dept Pharmacol, Nashville, TN 37232 USA. [Zhang, B.] Vanderbilt Univ, Sch Med, Dept Biomed Informat, Nashville, TN 37232 USA. [Lu, L.; Williams, R.] Univ Tennessee, Hlth Sci Ctr, Dept Anat & Neurobiol, Memphis, TN USA. [Blakely, R. D.] Vanderbilt Univ, Sch Med, Dept Psychiat, Nashville, TN 37232 USA. RP Blakely, RD (reprint author), Vanderbilt Univ, Sch Med, Suite 7140 MRBIII,465 21st Ave South, Nashville, TN 37232 USA. 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PD MAR PY 2014 VL 13 IS 3 BP 261 EP 275 DI 10.1111/gbb.12119 PG 15 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AB8ND UT WOS:000332046400002 PM 24405699 ER PT J AU Veatch, OJ Veenstra-VanderWeele, J Potter, M Pericak-Vance, MA Haines, JL AF Veatch, O. J. Veenstra-VanderWeele, J. Potter, M. Pericak-Vance, M. A. Haines, J. L. TI Genetically meaningful phenotypic subgroups in autism spectrum disorders SO GENES BRAIN AND BEHAVIOR LA English DT Article DE ASD; autism spectrum disorders; biomarkers; diagnosis; differential; genetics; multivariate; phenotypes; phenotypic subgroups; statistical analyses ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC INTERVIEW; CLUSTER-ANALYSIS; SUSCEPTIBILITY GENE; GENOMEWIDE SCREEN; FAMILY-HISTORY; CHILDREN; SUBTYPES; INDIVIDUALS; ASSOCIATION AB Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong evidence for genetic susceptibility. However, the effect sizes for implicated chromosomal loci are small, hard to replicate and current evidence does not explain the majority of the estimated heritability. Phenotypic heterogeneity could be one phenomenon complicating identification of genetic factors. We used data from the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, Vineland Adaptive Behavior Scales, head circumferences, and ages at exams as classifying variables to identify more clinically similar subgroups of individuals with ASD. We identified two distinct subgroups of cases within the Autism Genetic Resource Exchange dataset, primarily defined by the overall severity of evaluated traits. In addition, there was significant familial clustering within subgroups (odds ratio, OR approximate to 1.38-1.42, P<0.00001), and genotypes were more similar within subgroups compared to the unsubgrouped dataset (Fst=0.17 +/- 0.0.0009). These results suggest that the subgroups recapitulate genetic etiology. Using the same approach in an independent dataset from the Autism Genome Project, we similarly identified two distinct subgroups of cases and confirmed this severity-based dichotomy. We also observed evidence for genetic contributions to subgroups identified in the replication dataset. Our results provide more effective methods of phenotype definition that should increase power to detect genetic factors influencing risk for ASD. C1 [Veatch, O. J.; Potter, M.; Haines, J. L.] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN 37232 USA. [Veenstra-VanderWeele, J.] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN 37232 USA. [Veenstra-VanderWeele, J.] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA. [Veenstra-VanderWeele, J.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA. [Pericak-Vance, M. A.] Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA. RP Veatch, OJ (reprint author), Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, 519 Light Hall, Nashville, TN 37232 USA. EM olivia.j.veatch@vanderbilt.edu FU National Institute of Mental Health [1U24MH081810]; Autism Speaks, the Medical Research Council (UK); Health Research Board (Ireland); [MH64547] FX The authors have no conflicts of interest to disclose. We gratefully acknowledge the resources provided by both the Autism Genetic Resource Exchange Consortium and Autism Genome Project Consortium and the participating families. The Autism Genetic Resource Exchange is a program of Autism Speaks and is supported, in part, by grant 1U24MH081810 from the National Institute of Mental Health to C.M. Lajonchere (PI), and formerly by grant MH64547 to D.H. Geschwind (PI). The Autism Genome Project is funded by Autism Speaks, the Medical Research Council (UK) and the Health Research Board (Ireland). 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PD MAR PY 2014 VL 13 IS 3 BP 276 EP 285 DI 10.1111/gbb.12117 PG 10 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AB8ND UT WOS:000332046400003 PM 24373520 ER PT J AU Brielmaier, J Senerth, JM Silverman, JL Matteson, PG Millonig, JH DiCicco-Bloom, E Crawley, JN AF Brielmaier, J. Senerth, J. M. Silverman, J. L. Matteson, P. G. Millonig, J. H. DiCicco-Bloom, E. Crawley, J. N. TI Chronic desipramine treatment rescues depression-related, social and cognitive deficits in Engrailed-2 knockout mice SO GENES BRAIN AND BEHAVIOR LA English DT Article DE Autism; depression; desipramine; knockout mouse; norepinephrine; social behavior ID OBJECT RECOGNITION MEMORY; AUTISM SPECTRUM DISORDER; TAIL SUSPENSION TEST; ANTIDEPRESSANT TREATMENTS; HIPPOCAMPAL NEUROGENESIS; CHRONIC FLUOXETINE; CELL LOSS; CEREBELLAR; NOREPINEPHRINE; MOUSE AB Engrailed-2 (En2) is a homeobox transcription factor that regulates neurodevelopmental processes including neuronal connectivity and elaboration of monoaminergic neurons in the ventral hindbrain. We previously reported abnormalities in brain noradrenergic concentrations in En2 null mutant mice that were accompanied by increased immobility in the forced swim test, relevant to depression. An EN2 genetic polymorphism has been associated with autism spectrum disorders, and mice with a deletion in En2 display social abnormalities and cognitive deficits that may be relevant to multiple neuropsychiatric conditions. This study evaluated the ability of chronic treatment with desipramine (DMI), a selective norepinephrine (NE) reuptake inhibitor and classical antidepressant, to reverse behavioral abnormalities in En2-/- mice. Desipramine treatment significantly reduced immobility in the tail suspension and forced swim tests, restored sociability in the three-chambered social approach task and reversed impairments in contextual fear conditioning in En2-/- mice. Our findings indicate that modulation of brain noradrenergic systems rescues the depression-related phenotype in En2-/- mice and suggest new roles for NE in the pathophysiology of the social and cognitive deficits seen in neuropsychiatric disorders such as autism or schizophrenia. C1 [Brielmaier, J.; Senerth, J. M.; Silverman, J. L.; Crawley, J. N.] NIMH, Lab Behav Neurosci, Bethesda, MD 20892 USA. [Matteson, P. G.; Millonig, J. H.] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Ctr Adv Biotechnol & Med, New Brunswick, NJ USA. [Millonig, J. H.; DiCicco-Bloom, E.] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Neurosci & Cell Biol, New Brunswick, NJ USA. [DiCicco-Bloom, E.] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Pediat, New Brunswick, NJ USA. RP Brielmaier, J (reprint author), George Mason Univ, Dept Psychol, MS 3F5,4400 Univ Dr, Fairfax, VA 22030 USA. EM jbrielma@gmu.edu FU National Institute of Mental Health Intramural Research Program; NIH [R01 MH076624]; NJ Governor's Council for Medical Research and Treatment of Autism FX This research was supported by the National Institute of Mental Health Intramural Research Program (J.B., J.L.S., J.M.S. and J.N.C.), NIH R01 MH076624 (J.H.M. and E.D.B.) and the NJ Governor's Council for Medical Research and Treatment of Autism (E.D.B.). The authors declare no conflicts of interest. 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PD MAR PY 2014 VL 13 IS 3 BP 286 EP 298 DI 10.1111/gbb.12115 PG 13 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AB8ND UT WOS:000332046400004 PM 24730055 ER PT J AU Giles, DC AF Giles, David C. TI 'DSM-V is taking away our identity': The reaction of the online community to the proposed changes in the diagnosis of Asperger's disorder SO HEALTH LA English DT Article DE discourse analysis; mental health; technology in health care ID AUTISM; INTERNET; IV AB This article considers the fate of Asperger's disorder in the light of proposals for the Diagnostic and Statistical Manual of Mental Disorders (5th ed.) to collapse Asperger's disorder along with other pervasive developmental disorders into a general spectrum of autism. It is argued that a powerful lay and scientific culture has evolved around the concept of Asperger's disorder, which has found a particularly compelling voice over the last decade in the online Asperger community, with websites such as Wrong Planet recruiting tens of thousands of members. In order to assess the impact of these proposed changes on the online Asperger community, 19 threads on the topic of Diagnostic and Statistical Manual of Mental Disorders (5th ed.) are analysed according to the arguments that community members put forward in favour of, or in opposition to, the proposals. Many members embrace the notion of the spectrum and have already coined a new identity - spectrumite' - to adapt to the diagnostic shift. Others, however, are suspicious of the motives behind the absorption of Asperger's disorder, and potential threats to the provision of services as well as the strong aspie' identity that reflects the large literature and the online public sphere around Asperger's disorder. To what extent this culture poses a challenge to the authority of the Diagnostic and Statistical Manual of Mental Disorders is uncertain at present. C1 [Giles, David C.] Univ Winchester, Winchester SO22 4NR, Hants, England. RP Giles, DC (reprint author), Univ Winchester, Fac Humanities & Social Sci, Dept Psychol, West Hill, Winchester SO22 4NR, Hants, England. 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A., 2006, FOCUS AUTISM OTHER D, V21, P2, DOI 10.1177/10883576060210010101 VOLKMAR FR, 1994, AM J PSYCHIAT, V151, P1361 Wing L., 1996, AUTISTIC SPECTRUM GU Wing L, 2011, RES DEV DISABIL, V32, P768, DOI 10.1016/j.ridd.2010.11.003 WING L, 1981, PSYCHOL MED, V11, P115 NR 40 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1363-4593 EI 1461-7196 J9 HEALTH-LONDON JI Health PD MAR PY 2014 VL 18 IS 2 BP 179 EP 195 DI 10.1177/1363459313488006 PG 17 WC Public, Environmental & Occupational Health; Social Sciences, Biomedical SC Public, Environmental & Occupational Health; Biomedical Social Sciences GA AB7KW UT WOS:000331969900005 PM 23739773 ER PT J AU Johnson, P Ahamat, B Mcconnachie, A Puckering, C Marwick, H Furnivall, D Marwick, R Gillberg, C Heron, J Wilson, P AF Johnson, Paul Ahamat, Boolang Mcconnachie, Alex Puckering, Christine Marwick, Helen Furnivall, Daniel Marwick, Robbie Gillberg, Christopher Heron, Jon Wilson, Philip TI Motor activity at age one year does not predict ADHD at seven years SO INTERNATIONAL JOURNAL OF METHODS IN PSYCHIATRIC RESEARCH LA English DT Article DE attention deficit hyperactivity disorder; motor development; infant mental health; early identification ID DEVELOPMENTAL COORDINATION DISORDER; DEFICIT-HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; WELL-BEING ASSESSMENT; GENERAL MOVEMENTS; CHILDREN; RISK; PERFORMANCE; CHILDHOOD; INTERVENTION AB We have examined the predictive utility of motor activity in infancy towards diagnosis of attention deficit hyperactivity disorder (ADHD) in later childhood. We conducted a nested case-control study using videos of infants in the Avon Longitudinal Study of Parents and Children (ALSPAC). Sixty videos of children who received any Development and Well-being Assessment (DAWBA) psychiatric diagnosis at age 91 months (including 16 with ADHD) plus two controls per case were selected for data analysis. Body movements were measured at age one year: associations between motor activity-derived variables using factor analysis, and later ADHD diagnoses were sought. No significant association was found between infant motor activity and later ADHD. A positive association between motor activity and inattentive ADHD was found in males. Motor activity at age one year did not predict ADHD at age seven years. The positive association with inattentive ADHD in males requires further investigation. Copyright (c) 2014 John Wiley & Sons, Ltd. C1 [Johnson, Paul; Mcconnachie, Alex] Univ Glasgow, Robertson Ctr Biostat, Glasgow, Lanark, Scotland. [Ahamat, Boolang; Puckering, Christine; Furnivall, Daniel; Marwick, Robbie; Gillberg, Christopher; Wilson, Philip] Univ Glasgow, Royal Hosp Sick Children, Inst Hlth & Wellbeing, Glasgow, Lanark, Scotland. [Marwick, Helen] Univ Strathclyde, Natl Ctr Autism Studies, Glasgow, Lanark, Scotland. [Heron, Jon] Sch Social & Community Med, Bristol, Avon, England. [Wilson, Philip] Univ Aberdeen, Ctr Rural Hlth, Inverness IV2 3JH, Scotland. RP Wilson, P (reprint author), Univ Aberdeen, Ctr Rural Hlth, Ctr Hlth Sci, Old Perth Rd, Inverness IV2 3JH, Scotland. EM p.wilson@abdn.ac.uk RI Heron, Jon/D-5884-2011; Johnson, Paul/O-9695-2014 OI Johnson, Paul/0000-0001-6663-7520 FU Yorkhill Children's Foundation; Gillberg Neuropsychiatry Centre; Waterloo Foundation FX The authors are grateful to all the families who took part in this study, the midwives for 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 United Kingdom Medical Research Council, the Wellcome Trust, and the University of Bristol provide core support for ALSPAC. The project reported here was supported by small grants from the Yorkhill Children's Foundation, the Gillberg Neuropsychiatry Centre and the Waterloo Foundation. This article is the work of the authors, and Philip Wilson will serve as guarantor for the contents of this article. 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J. Methods Psychiatr. Res. PD MAR PY 2014 VL 23 IS 1 BP 9 EP 18 DI 10.1002/mpr.1436 PG 10 WC Psychiatry SC Psychiatry GA AD1QZ UT WOS:000333009800002 PM 24496957 ER PT J AU Almeida, LEF Roby, CD Krueger, BK AF Almeida, Luis E. F. Roby, Clinton D. Krueger, Bruce K. TI Increased BDNF expression in fetal brain in the valproic acid model of autism SO MOLECULAR AND CELLULAR NEUROSCIENCE LA English DT Article DE Autism spectrum disorder; Brain-derived neurotrophic factor; Brain development; Gene promoters; Neurotrophin; VPA ID GENE-ENVIRONMENT INTERACTIONS; NEUROTROPHIC-FACTOR; SPECTRUM DISORDERS; ANIMAL-MODELS; MOUSE MODELS; ANTIEPILEPTIC DRUGS; MENTAL-RETARDATION; ASSOCIATION; EXPOSURE; CHILDREN AB Human fetal exposure to valproic acid (VPA), a widely-used anti-epileptic and mood-stabilizing drug, leads to an increased incidence of behavioral and intellectual impairments including autism; VPA administration to pregnant rats and mice at gestational days 12.5 (E12.5) or E13.5 leads to autistic-like symptoms in the offspring and is widely used as an animal model for autism. We report here that this VPA administration protocol transiently increased both BDNF mRNA and BDNF protein levels 5-6-fold in the fetal mouse brain. VPA exposure in utero induced smaller increases in the expression of mRNA encoding the other neurotrophins, NT3 (2.5-fold) and NT4 (2-fold). Expression of the neurotrophin receptors, trkA, trkB and trkC were minimally affected, while levels of the low-affinity neurotrophin receptor, p75(NTR-), doubled. Of the nine 5 '-untranslated exons of the mouse BDNF gene, only expression of exons I, IV and VI was stimulated by VPA in utero. In light of the well-established role of BDNF in regulating neurogenesis and the laminar fate of postmitotic neurons in the developing cortex, an aberrant increase in BDNF expression in the fetal brain may contribute to VPA-induced cognitive disorders by altering brain development. (C) 2014 Elsevier Inc. All rights reserved. C1 [Almeida, Luis E. F.; Roby, Clinton D.; Krueger, Bruce K.] Univ Maryland, Sch Med, Dept Physiol, Baltimore, MD 21201 USA. [Krueger, Bruce K.] Univ Maryland, Sch Med, Dept Psychiat, Baltimore, MD 21201 USA. [Krueger, Bruce K.] Univ Maryland, Program Neurosci, Baltimore, MD 21201 USA. RP Krueger, BK (reprint author), Univ Maryland, Sch Med, Dept Physiol, 655W Baltimore St, Baltimore, MD 21201 USA. EM bkrueger@umaryland.edu FU Ruth L Kirschstein National Research Service Award (NRSA) [5T32DE007309-12]; NIH [R01NS048095, R01HD067135] FX This work was supported by Ruth L Kirschstein National Research Service Award (NRSA) 5T32DE007309-12 (LEFA) and NIH grants R01NS048095 (BKK) and R01HD067135 (BKK and E.M. Powell). The authors would like to thank Drs. M. Bond, S.G. Dorsey, A. Keller, T.J. Kingsbury and E.M. Powell (University of Maryland Baltimore) for their critiques of the manuscript. 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Studies in mouse models of MeCP2 deficiency have demonstrated that this protein is important for neuronal maturation, neurite complexity, synaptogenesis, and synaptic plasticity. However, the mechanisms by which MeCP2 dysfunction leads to neurodevelopmental defects, and the role of activity, remain unclear, as most studies examine the adult nervous system, which may obfuscate the primary consequences of MeCP2 mutation. We hypothesize that MeCP2 plays a role during the formation and activity-driven maturation of neural circuits at early postnatal stages. To test this hypothesis, we use the olfactory system as a neurodevelopmental model. This system undergoes postnatal neurogenesis; axons from olfactory neurons form highly stereotyped projections to higher-order neurons, facilitating the detection of possible defects in the establishment of connectivity. In vivo olfactory stimulation paradigms were used to produce physiological synaptic activity in gene-targeted mice in which specific olfactory circuits are visualized. Our results reveal defective postnatal refinement of olfactory circuits in Mecp2 knock out (KO) mice after sensory (odorant) stimulation. This failure in refinement was associated with deficits in the normal responses to odorants, including brain-derived neurotrophic factor (BDNF) production, as well as changes in adhesion molecules known to regulate axonal convergence. The defective refinement observed in Mecp2 KO mice was prevented by daily treatment with ampakine beginning after the first postnatal week. These observations indicate that increasing synaptic activity at early postnatal stage might circumvent the detrimental effect of MeCP2 deficiency on circuitry maturation. The present results provide in vivo evidence in real time for the role of MeCP2 in activity-dependent maturation of olfactory circuitry, with implications for understanding the mechanism of MeCP2 mutations in the development of neural connectivity. (C) 2014 Elsevier Inc. All rights reserved. C1 [Degano, Alicia L.; Park, Min Jung; Penati, Judith; Li, Qun; Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Ctr Metab & Obes Res, Baltimore, MD 21205 USA. [Degano, Alicia L.; Park, Min Jung; Penati, Judith; Li, Qun; Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA. [Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA. [Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Biol Chem, Baltimore, MD 21205 USA. [Degano, Alicia L.] Natl Univ Cordoba, Fac Ciencias Quim, CIQUIBIC CONICET, Dept Quim Biol, RA-5016 Cordoba, Argentina. [Ronnett, Gabriele V.] Daegu Gyeongbuk Inst Sci & Technol, Taegu, South Korea. RP Degano, AL (reprint author), Haya de la Torre S-N,Pabellon Argentina, Cordoba, Argentina. EM adegano@fcq.unc.edu.ar; gronnett@jhmi.edu FU NIH NINDS [R01 NS041079]; DGIST Convergence FX This work is supported by NIH NINDS R01 NS041079 to G.V.R. and DGIST Convergence grant to G.V.R. We thank members of the Ronnett Lab for critical reading of this manuscript and Natali Chanaday Ricagni for helping with the graphical abstract. 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Cell. Neurosci. PD MAR PY 2014 VL 59 BP 63 EP 75 DI 10.1016/j.mcn.2014.01.005 PG 13 WC Neurosciences SC Neurosciences & Neurology GA AH7TP UT WOS:000336338400007 PM 24472844 ER PT J AU Li, BL Yuen, VM Song, XR Ye, J Ni, J Huang, JX Irwin, MG AF Li, B. L. Yuen, V. M. Song, X. R. Ye, J. Ni, J. Huang, J. X. Irwin, M. G. TI Intranasal dexmedetomidine following failed chloral hydrate sedation in children SO ANAESTHESIA LA English DT Article ID DOSE DEXMEDETOMIDINE; PEDIATRIC MRI; CT; PREMEDICATION; PHARMACOKINETICS; DISORDERS; MIDAZOLAM; AUTISM; SAFETY; AGE AB Chloral hydrate is the most commonly used sedative for paediatric diagnostic procedures in China with a success rate of around 80%. Intranasal dexmedetomidine is used for rescue sedation in our centre. This prospective investigation evaluated 213 children aged onemonth to 10years who were not adequately sedated following administration of chloral hydrate. Children were randomly assigned to receive rescue intranasal dexmedetomidine at 1g.kg(-1) (group 1), 1.5g.kg(-1) (group 2) or 2g.kg(-1) (group 3). The sedation level was assessed every 10min using a modified observer's assessment of alertness/sedation scale. Successful rescue sedation in groups 1, 2 and 3 were 56 (83.6%), 66 (89.2%) and 51 (96.2%), respectively. Increasing the rescue dose was associated with an increased success rate with an odds ratio of 4.12 (95% CI 1.13-14.98), p=0.032. We conclude that intranasal dexmedetomidine is effective for sedation in children who do not respond to chloral hydrate. C1 [Li, B. L.; Song, X. R.; Ni, J.; Huang, J. X.] Guangzhou Med Univ, Dept Anaesthesiol, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China. [Yuen, V. M.] Univ Hong Kong, Dept Anaesthesiol, Dept Anaesthesiol, Shenzhen, Peoples R China. [Ye, J.] Southern Med Univ, Dept Anaesthesiol, Southern Hosp, Guangzhou, Guangdong, Peoples R China. [Irwin, M. 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PD MAR PY 2014 VL 40 IS 2 BP 158 EP 164 DI 10.1111/cch.12065 PG 7 WC Psychology, Developmental; Pediatrics SC Psychology; Pediatrics GA AA9TY UT WOS:000331437000002 PM 23663203 ER PT J AU Bourke-Taylor, HM Pallant, JF Law, M AF Bourke-Taylor, H. M. Pallant, J. F. Law, M. TI Update on the Child's Challenging Behaviour Scale following evaluation using Rasch analysis SO CHILD CARE HEALTH AND DEVELOPMENT LA English DT Article DE Rasch analysis; behaviour; childhood disability; maternal health ID SCHOOL-AGED CHILD; MEASUREMENT MODEL; MENTAL-HEALTH; MOTHERS; STRESS; DISABILITIES; DISORDERS; AUTISM; CARE AB Background The Child's Challenging Behaviour Scale (CCBS) was designed to measure a mother's rating of her child's challenging behaviours. The CCBS was initially developed for mothers of school-aged children with developmental disability and has previously been shown to have good psychometric properties using classical test theory techniques. The aim of this study was to use Rasch analysis to fully evaluate all aspects of the scale, including response format, item fit, dimensionality and targeting. Methods The sample consisted of 152 mothers of a school-aged child (aged 5-18 years) with a disability. Mothers were recruited via websites and mail-out newsletters through not-for-profit organizations that supported families with disabilities. Respondents completed a survey which included the 11 items of the CCBS. Rasch analysis was conducted on these responses using the RUMM2030 package. Results Rasch analysis of the CCBS revealed serious threshold disordering for nine of the 11 items, suggesting problems with the 5-point response format used for the scale. The neutral midpoint of the response format was subsequently removed to create a 4-point scale. High levels of local dependency were detected among two pairs of items, resulting in the removal of two items (item 7 and item 1). The final nine-item version of the scale (CCBS Version 2) was unidimensional, well targeted, showed good fit to the Rasch model, and strong internal consistency. Conclusions To achieve fit to the Rasch model it was necessary to make two modifications to the CCBS scale. The resulting nine-item scale with a 4-point response format showed excellent psychometric properties, supporting its internal validity. C1 [Bourke-Taylor, H. M.] Monash Univ, Dept Occupat Therapy, Sch Primary Hlth Care, Fac Med Nursing & Hlth Sci, Frankston, Vic 3199, Australia. [Pallant, J. F.] Univ Melbourne, Rural Hlth Acad Ctr, Shepparton, Vic, Australia. [Law, M.] McMaster Univ, CanChild Ctr Childhood Disabil Res, Hamilton, ON, Canada. RP Bourke-Taylor, HM (reprint author), Monash Univ, Dept Occupat Therapy, Sch Primary Hlth Care, Fac Med Nursing & Hlth Sci, Peninsula Campus,POB 527, Frankston, Vic 3199, Australia. 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TI Linking Clinical and Industrial Psychology: Autism Spectrum Disorder at Work SO INDUSTRIAL AND ORGANIZATIONAL PSYCHOLOGY-PERSPECTIVES ON SCIENCE AND PRACTICE LA English DT Article ID QUOTIENT C1 [Hill, Elisabeth L.] Univ London Goldsmiths Coll, London SE14 6NW, England. RP Hill, EL (reprint author), Univ London Goldsmiths Coll, Dept Psychol, London SE14 6NW, England. EM e.hill@gold.ac.uk CR Allison C, 2012, J AM ACAD CHILD PSY, V51, P202, DOI 10.1016/j.jaac.2011.11.003 APA, 2013, DIAGNOSTIC AND STATI Baird G, 2006, LANCET, V368, P210, DOI 10.1016/S0140-6736(06)69041-7 Baron-Cohen S, 2001, J AUTISM DEV DISORD, V31, P5, DOI 10.1023/A:1005653411471 Berthoz S, 2013, PSYCHIAT RES, V208, P257, DOI 10.1016/j.psychres.2013.05.014 Frith CD, 2006, NEURON, V50, P531, DOI 10.1016/j.neuron.2006.05.001 Guenole N, 2014, IND ORGAN PSYCHOL-US, V7, P85 Hill E, 2004, J AUTISM DEV DISORD, V34, P229, DOI 10.1023/B:JADD.0000022613.41399.14 Hill E. L., 2011, THE HR TRAINING JOUR, V10, P89 Hill E. L., 2012, OCCUPATIONAL HEALTH, V12, P16 Hill EL, 2004, TRENDS COGN SCI, V8, P26, DOI 10.1016/j.tics.2003.11.003 Knapp M, 2009, AUTISM, V13, P317, DOI 10.1177/1362361309104246 Krueger R. F., 2013, THE PERSONALITY INVE Sucksmith E, 2011, NEUROPSYCHOL REV, V21, P360, DOI 10.1007/s11065-011-9183-9 NR 14 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1754-9426 EI 1754-9434 J9 IND ORGAN PSYCHOL-US JI Ind. Organ. Psychol. PD MAR PY 2014 VL 7 IS 1 BP 152 EP 155 PG 4 WC Psychology, Applied SC Psychology GA AB1CT UT WOS:000331529600032 ER PT J AU Maximo, JO Cadena, EJ Kana, RK AF Maximo, Jose O. Cadena, Elyse J. Kana, Rajesh K. TI The Implications of Brain Connectivity in the Neuropsychology of Autism SO NEUROPSYCHOLOGY REVIEW LA English DT Review DE Autism; fMRI; Functional connectivity; Underconnectivity; Effective connectivity; White matter integrity ID HIGH-FUNCTIONING AUTISM; DEFAULT MODE NETWORK; SPECTRUM DISORDERS; WHITE-MATTER; MAGNETIC-RESONANCE; STRUCTURAL CONNECTIVITY; COGNITIVE CONTROL; NEURAL SYSTEMS; FRONTAL-CORTEX; CORTICAL UNDERCONNECTIVITY AB Autism is a neurodevelopmental disorder that has been associated with atypical brain functioning. Functional connectivity MRI (fcMRI) studies examining neural networks in autism have seen an exponential rise over the last decade. Such investigations have led to the characterization of autism as a distributed neural systems disorder. Studies have found widespread cortical underconnectivity, local overconnectivity, and mixed results suggesting disrupted brain connectivity as a potential neural signature of autism. In this review, we summarize the findings of previous fcMRI studies in autism with a detailed examination of their methodology, in order to better understand its potential and to delineate the pitfalls. We also address how a multimodal neuroimaging approach (incorporating different measures of brain connectivity) may help characterize the complex neurobiology of autism at a global level. Finally, we also address the potential of neuroimaging-based markers in assisting neuropsychological assessment of autism. The quest for a neural marker for autism is still ongoing, yet new findings suggest that aberrant brain connectivity may be a promising candidate. C1 [Maximo, Jose O.; Cadena, Elyse J.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA. RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235G,1719 6th Ave South, Birmingham, AL 35294 USA. EM rkana@uab.edu FU McNulty-Civitan Scientist award; UAB department of Psychology faculty funds; UAB Center for Clinical and Translational Sciences grant [UL1 TR000165] FX This study was supported by the McNulty-Civitan Scientist award, the UAB department of Psychology faculty funds, and the UAB Center for Clinical and Translational Sciences grant (UL1 TR000165). The authors would like to thank Ms. Bahia Lukima for her help with the manuscript. 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PD MAR-APR PY 2014 VL 63 IS 2 BP E36 EP E36 PG 1 WC Nursing SC Nursing GA AE6JP UT WOS:000334098000100 ER PT J AU O'Brien, S AF O'Brien, Sandra TI Addressing an Uncertain Future for Parents of Adolescents With Autism: Opportunities for Collaborative Intervention SO NURSING RESEARCH LA English DT Meeting Abstract C1 [O'Brien, Sandra] Catholic Univ Amer, Washington, DC 20064 USA. NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 0029-6562 EI 1538-9847 J9 NURS RES JI Nurs. Res. PD MAR-APR PY 2014 VL 63 IS 2 BP E9 EP E9 PG 1 WC Nursing SC Nursing GA AE6JP UT WOS:000334098000023 ER PT J AU Bonnot, O Xavier, J Tordjman, S AF Bonnot, Olivier Xavier, Jean Tordjman, Sylvie TI Schizophrenia and pain reactivity in schizophrenia: Specific or related to pathology? SO ANNALES MEDICO-PSYCHOLOGIQUES LA French DT Article DE Emotion; Empathy; Pain; Perception; Review of the writing; Schizophrenia ID PSYCHOTIC PATIENTS; FLEXION REFLEX; PERCEPTION; HEADACHE; INSENSITIVITY; POPULATION AB Medical practitioners do not for a long time pay enough attention to patient's pain. This approach is in the line of society feelings. Pain was long consider to be a contingency to withstand as showed in Christian's bible or Stoicism's principle. Changes in mentality appear in present times. It seems obvious that for sociological and scientific reasons pain's care in medical and psychiatric disorders is now an important subject. Recent research in autistic disorders suggest that insensitivity observed in autism is not an analgesic phenomenon but a different behavioral reactivity to pain. Prevalence of schizophrenic disorder is from 0.5 to 1%. It is also a complex disorder that has defied decades of concerted efforts to uncover its origins and attenuate its symptoms. The most promising hypotheses suggest that neurodevelopmental impairment increases the risk of later schizophrenia. Most of recent researches in this topic did focus to trait or state markers. According to the vulnerability models of schizophrenia, trait markers are clinical, psychological, physiological, anatomical or cognitive impairments found in patients with schizophrenia during all the course of the illness and even before the onset. Several lines of evidence (case report, epidemiological studies, experimental studies) suggest that patients with schizophrenia show a relative insensitivity to physical pain. We will review and critic the scientific literature in this specific topic. We will see if data are relevant with the neurodevelopmental hypothesis and vulnerability models. Articles are separated in 2 groups, first are clinical or epidemiological studies, and second are experimental studies. Clinical and experimental data strongly suggest a decrease of behavioural reactivity to pain (BRP) but there is a lack of argument to prove a real analgesia. Because schizophrenia is a severe decease with impairment in communication and social skills, it may be very difficult to affirm that the insensitivity to pain does really exist for patients. It seems inappropriate at this point to speak about insensitivity or analgesia. We could hypothesis that the decrease of BRP is less a consequence of analgesia than a different way to express emotion in general and pain in particular. It is well known that patients with schizophrenia show communication and thinking impairment, not adapted social skills and also a lack of body representation. However, this decrease of behavioral response seems to be frequent and may be explored by objective research protocol to understand if patients don't feel pain or probably don't express pain by adapted social skills. Furthermore, decrease of BRP may take place in a comprehensive theory of schizophrenia in the line of stress-vulnerability model. Impairment or lack of behavioral pain reactivity could induce an increasing anxiety level for patient with vulnerability to schizophrenia and a higher risk of onset of the pathology. We may argue that pain stimuli would conduct to a nociceptive stress witch couldn't discharge by usual ways of regulation and behavioral expression of pain. Recent research regarding empathy in patients with schizophrenia may be a relevant approach for understanding the un-specificity of pain reactivity impairment in these patients. (C) 2014 Elsevier Masson SAS. All rights reserved. C1 [Bonnot, Olivier] Univ Nantes, CHU Nantes, HME, Serv Univ Psychiat Enfant & Adolescent, F-44000 Nantes, France. [Xavier, Jean] Grp Hosp Pitie Salpetriere, Serv Univ Psychiat Enfant & Adolescent, F-75013 Paris, France. 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TI Economic Burden of Childhood Autism Spectrum Disorders SO PEDIATRICS LA English DT Article DE cost of illness; health economics; autism spectrum disorder ID HEALTH-CARE EXPENDITURES; CHILDREN; COSTS; SERVICES; DIAGNOSIS; MEDICAID; PROFILE; IMPACT; US AB OBJECTIVE:To estimate the associations between autism spectrum disorder (ASD) diagnoses and service use, caregiver time, and cost outcomes.METHODS:We used national data from the Medical Expenditure Panel Survey linked to the National Health Interview Survey and a study-specific survey to estimate the annual utilization and costs for health care, school, ASD-related therapy, family-coordinated services, as well as caregiver time in children aged 3 to 17 years, with and without parent-reported ASD. Regression analyses estimated the association between ASD diagnosis and cost, controlling for child gender, age, race/ethnicity, insurance status, household income, country region and urban/rural classification, and non-ASD-related illnesses.RESULTS:Children with parent-reported ASD had higher levels of health care office visits and prescription drug use compared with children without ASD (P < .05). A greater proportion of children in the ASD group used special educational services (76% vs 7% in the control group, P < .05). After adjusting for child demographic characteristics and non-ASD-associated illnesses, ASD was associated with $3020 (95% confidence interval [CI]: $1017-$4259) higher health care costs and $14061 (95% CI: $4390-$24302) higher aggregate non-health care costs, including $8610 (95% CI: $6595-$10421) higher school costs. In adjusted analyses, parents who reported that their child had ASD did not have significantly higher out-of-pocket costs or spend more time on caregiving activities compared with control parents.CONCLUSIONS:The economic burden associated with ASD is substantial and can be measured across multiple sectors of our society. Previous analyses that focused on health care underestimated this economic burden, particularly for school systems. C1 [Lavelle, Tara A.] Harvard Univ, PhD Program Hlth Policy, Cambridge, MA 02138 USA. [Weinstein, Milton C.] Harvard Univ, Sch Publ Hlth, Dept Hlth Policy & Management, Boston, MA 02115 USA. [Newhouse, Joseph P.] Harvard Univ, Sch Med, Dept Hlth Care Policy, Boston, MA 02115 USA. [Munir, Kerim] Boston Childrens Hosp, Div Dev Med, Boston, MA USA. [Kuhlthau, Karen A.] Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Res & Policy, Boston, MA 02114 USA. [Prosser, Lisa A.] Univ Michigan Hlth Syst, Div Gen Pediat, Child Hlth Evaluat & Res Unit, Ann Arbor, MI USA. RP Lavelle, TA (reprint author), RAND Corp, 1200 South Hayes St, Arlington, VA 22202 USA. EM tlavelle@rand.org RI Munir, Kerim/D-6910-2015 OI Munir, Kerim/0000-0002-2404-1806 FU National Institute of Mental Health [5T32MH019733-18]; Harvard University's Center for American Political Studies; National Institute of Mental Health Research Training Program in Mental Health and Developmental Disabilities at Boston Children's Hospital [R25 MH071286]; National Institute for Nursing Research [7-R01-NR-011880-03]; Harvard University Graduate School of Arts and Sciences; Nancy Lurie Marks Foundation FX Funding for this study was provided by the National Institute of Mental Health (5T32MH019733-18), Harvard University's Center for American Political Studies, the National Institute of Mental Health Research Training Program in Mental Health and Developmental Disabilities at Boston Children's Hospital (R25 MH071286), National Institute for Nursing Research (7-R01-NR-011880-03), Harvard University Graduate School of Arts and Sciences, and the Nancy Lurie Marks Foundation. 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Perspective taking is conceptualized as the ability to relate events in accordance with the deictic frames of I-You, Here-There, and Now-Then. We hypothesized that the systematic underrehearsal of such behavioral repertoires, set off by the characteristic avoidance of social encounters in patients with SAD, could contribute to an impairment of perspective taking. We examined deictic relational responding skills in a sample of adults suffering from SAD and compared their performances with an age-matched sample of healthy peers. Participants with SAD performed significantly less accurately across all trial types, with group differences reaching significance for reversed trials (i.e., trials demanding a shift in perspective taking). Results indicated more pronounced difficulties at an earlier stage of perspective taking for those individuals diagnosed with SAD. Methodological shortcomings and implications for further research and training were discussed. C1 [Janssen, Gwenny; Egger, Jos] Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, NL-5803 AC Venray, Netherlands. [Janssen, Gwenny; De Mey, Hubert; Hendriks, Annemieke; Witteman, Cilia; Egger, Jos] Radboud Univ Nijmegen, Inst Behav Sci, NL-6525 ED Nijmegen, Netherlands. [Hendriks, Annemieke; Koppers, Anne; Kaarsemaker, Maarten] Vincent van Gogh Inst Psychiat, Ctr Anxiety Disorders, NL-5803 AC Venray, Netherlands. [Egger, Jos] Radboud Univ Nijmegen, Ctr Cognit, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands. [Egger, Jos] Pompe Inst Forens Psychiat, Nijmegen, Netherlands. RP Janssen, G (reprint author), Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, Stationsweg 46, NL-5803 AC Venray, Netherlands. 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PD MAR PY 2014 VL 64 IS 1 BP 21 EP 29 DI 10.1007/s40732-014-0013-3 PG 9 WC Psychology, Multidisciplinary SC Psychology GA AG7ED UT WOS:000335580000003 ER PT J AU Rivard, M Forget, J Kerr, K Begin, J AF Rivard, Melina Forget, Jacques Kerr, Kelly Begin, Jean TI Matching Law and Sensitivity to Therapist's Attention in Children with Autism Spectrum Disorders SO PSYCHOLOGICAL RECORD LA English DT Article DE Autism Spectrum Disorders; Matching law; Social behaviors; Social attention ID BEHAVIORAL INTERVENTION; YOUNG-CHILDREN; REINFORCEMENT; ENVIRONMENT; CHOICE AB A social skills deficit is one of the core symptoms in children with autism spectrum disorders (ASDs) and has been hypothesized to be related to a deficit in social sensitivity. This study set out to investigate the social sensitivity of preschoolers with ASDs in an early behavioral intervention setting, using the generalized matching equation as an analytical tool. We evaluated how 14 children with ASDs, ages 3 to 5, allocated their appropriate social behaviors compared to their inappropriate and nonsocial behaviors, based on the attention of their therapists during early behavioral intervention. The objectives were to (a) measure the social sensitivity of participants using the generalized matching equation and describe the stability of this measure after 8 months of intervention and (b) evaluate the relationship between the parameters of the GME and the participants' level of functioning as measured by their intellectual functioning and severity of autistic symptoms. Seven of the participants significantly varied their appropriate social behaviors based on changes in the social attention of their therapists at the onset of intervention, and 3 more participants showed this pattern after 8 months of intervention. Changes in behavioral bias and social sensitivity after 8 months of observation were significantly correlated with some measures of functioning in the participants. The usefulness of the matching law as a tool for measuring social sensitivity in this population, and its clinical applications, is discussed. C1 [Rivard, Melina; Forget, Jacques; Begin, Jean] Univ Quebec, Dept Psychol, Montreal, PQ H3C 3P8, Canada. [Kerr, Kelly] Cocoon Dev, Longueuil, PQ, Canada. RP Rivard, M (reprint author), Univ Quebec, Dept Psychol, CP 8888 Succursale Ctr Ville, Montreal, PQ H3C 3P8, Canada. EM rivard.melina@uqam.ca CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT BAUM WM, 1974, J EXP ANAL BEHAV, V22, P231, DOI 10.1901/jeab.1974.22-231 BAUM WM, 1979, J EXP ANAL BEHAV, V32, P269, DOI 10.1901/jeab.1979.32-269 Borrero JC, 2002, J APPL BEHAV ANAL, V35, P13, DOI 10.1901/jaba.2002.35-13 Borrero S. 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TI Perspective Taking as a Continuum SO PSYCHOLOGICAL RECORD LA English DT Article DE Perspective taking; Verbal behavior; Relational responding; Interbehaviorism; Interbehavioral psychology ID CHILDREN; CONSTRUCTS; AUTISM; EVENTS; MIND; EGOCENTRISM; PSYCHOLOGY AB In recent years, behavior analysts have given an increasing amount of attention to the topic of perspective taking. However, the construct of perspective taking refers to a number of behaviors that vary along a continuum of complexity. Moreover, it is possible that verbal behavior plays a special participatory role in perspective taking. The current paper proposes a continuum of perspective taking behavior, ranging from relatively simple to complex types. After describing this continuum, the role of verbal behavior in perspective taking is considered. The implications of our analysis and avenues for further research are provided. C1 [DeBernardis, Genevieve M.; Hayes, Linda J.] Univ Nevada, Dept Psychol, Reno, NV 89557 USA. 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Newschaffer, Craig Girardi, Theresa TI Gender Differences in Network Structure in Placental Chorionic Vasculature in High Autism Risk Sibs: Insights into Autism Risk Genesis SO REPRODUCTIVE SCIENCES LA English DT Meeting Abstract C1 [Salafia, Carolyn M.; Girardi, Theresa] Placental Analyt, Res & Dev, Larchmont, NY USA. [Salafia, Carolyn M.; Misra, Dawn P.; Girardi, Theresa] New York State Off Mental Retardat & Dev Disabil, Inst Basic Res, Placental Modulat Lab, Staten Isl, NY USA. [Newschaffer, Craig] Wayne State Univ, Detroit, MI USA. Drexel Univ, AJ Drexel Autism Ctr, Philadelphia, PA 19104 USA. NR 0 TC 0 Z9 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1933-7191 EI 1933-7205 J9 REPROD SCI JI Reprod. Sci. PD MAR PY 2014 VL 21 IS 3 SU S BP 366A EP 367A PG 2 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA AE2OO UT WOS:000333813003207 ER PT J AU Salafia, CM Misra, DP Platt, C Girardi, T AF Salafia, Carolyn M. Misra, Dawn P. Platt, Craig Girardi, Theresa TI Chorionic Vascular Network Structures Measurably Differ among Placentas of Children Who Have Normal Neurodevelopment, Those with Special Education Needs and Those with Autism SO REPRODUCTIVE SCIENCES LA English DT Meeting Abstract C1 [Salafia, Carolyn M.; Girardi, Theresa] Placental Analyt, Res & Dev, Larchmont, NY USA. [Salafia, Carolyn M.] New York State Off Mental Retardat & Dev Disabil, Inst Basic Res, Placental Modulat Lab, Staten Isl, NY USA. [Misra, Dawn P.] Wayne State Univ, Detroit, MI USA. [Platt, Craig] Bristol Univ Hosp, Bristol, Avon, England. NR 0 TC 0 Z9 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1933-7191 EI 1933-7205 J9 REPROD SCI JI Reprod. Sci. PD MAR PY 2014 VL 21 IS 3 SU S BP 385A EP 385A PG 1 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA AE2OO UT WOS:000333813003263 ER PT J AU Kreiser, NL White, SW AF Kreiser, Nicole L. White, Susan W. TI Assessment of Social Anxiety in Children and Adolescents With Autism Spectrum Disorder SO CLINICAL PSYCHOLOGY-SCIENCE AND PRACTICE LA English DT Review DE assessment; autism; social anxiety; social anxiety disorder ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; COMORBID PSYCHIATRIC-DISORDERS; COGNITIVE-BEHAVIORAL THERAPY; RANDOMIZED CONTROLLED-TRIAL; ASPERGER-SYNDROME; CO-MORBIDITY; HIGH-RATES; YOUTH; VALIDITY AB Despite the high prevalence of social anxiety in individuals with autism spectrum disorder (ASD), there is little agreement on how to best assess such problems in this population. To inform evidence-based assessment, we conducted a comprehensive review of research that has assessed social anxiety in children and adolescents with ASD without co-occurring intellectual disability. 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PD MAR PY 2014 VL 21 IS 1 BP 18 EP 31 DI 10.1111/cpsp.12057 PG 14 WC Psychology, Clinical SC Psychology GA AD4SO UT WOS:000333241000003 ER PT J AU Melloni, M Lopez, V Ibanez, A AF Melloni, Margherita Lopez, Vladimir Ibanez, Agustin TI Empathy and contextual social cognition SO COGNITIVE AFFECTIVE & BEHAVIORAL NEUROSCIENCE LA English DT Article DE Empathy; Context-dependent effects; Social cognition; SCNM; Frontoinsular-temporal network; bvFTD; Asperger syndrome; Schizophrenia ID VON ECONOMO NEURONS; FRONTOTEMPORAL LOBAR DEGENERATION; ANTERIOR CINGULATE CORTEX; AUTISM SPECTRUM DISORDERS; PRIMATE PREFRONTAL CORTEX; EMOTIONAL BODY LANGUAGE; ASPERGER-SYNDROME; NEURAL RESPONSES; VISUAL CONTEXT; BRAIN MECHANISMS AB Empathy is a highly flexible and adaptive process that allows for the interplay of prosocial behavior in many different social contexts. Empathy appears to be a very situated cognitive process, embedded with specific contextual cues that trigger different automatic and controlled responses. In this review, we summarize relevant evidence regarding social context modulation of empathy for pain. Several contextual factors, such as stimulus reality and personal experience, affectively link with other factors, emotional cues, threat information, group membership, and attitudes toward others to influence the affective, sensorimotor, and cognitive processing of empathy. Thus, we propose that the frontoinsular-temporal network, the so-called social context network model (SCNM), is recruited during the contextual processing of empathy. This network would (1) update the contextual cues and use them to construct fast predictions (frontal regions), (2) coordinate the internal (body) and external milieus (insula), and (3) consolidate the context-target associative learning of empathic processes (temporal sites). Furthermore, we propose these context-dependent effects of empathy in the framework of the frontoinsular-temporal network and examine the behavioral and neural evidence of three neuropsychiatric conditions (Asperger syndrome, schizophrenia, and the behavioral variant of frontotemporal dementia), which simultaneously present with empathy and contextual integration impairments. We suggest potential advantages of a situated approach to empathy in the assessment of these neuropsychiatric disorders, as well as their relationship with the SCNM. C1 [Melloni, Margherita; Ibanez, Agustin] Favaloro Univ, Inst Cognit Neurol INECO, Lab Expt Psychol & Neurosci LPEN, Buenos Aires, DF, Argentina. [Melloni, Margherita; Ibanez, Agustin] Natl Sci & Tech Res Council CONICET, Buenos Aires, DF, Argentina. [Lopez, Vladimir] Pontificia Univ Catolica Chile, Santiago, Chile. [Ibanez, Agustin] Diego Portales Univ, Lab Cognit & Social Neurosci LaNCyS, UDP INECO Fdn Core Neurosci UIFCoN, Santiago, Chile. RP Ibanez, A (reprint author), Favaloro Univ, Inst Cognit Neurol INECO, Lab Expt Psychol & Neurosci LPEN, Pacheco Melo 1860, Buenos Aires, DF, Argentina. EM aibanez@ineco.org.ar FU CONICYT/FONDECYT Regular [1130920, 1090610]; PICT [2012-0412, 2012-1309]; CONICET; INECO Foundation FX We would like to thank Jean Decety for many helpful comments and for the discussion of an earlier version of this work. This study was supported by grants CONICYT/FONDECYT Regular (1130920 and 1090610), PICT 2012-0412, and PICT 2012-1309, CONICET and the INECO Foundation. 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Affect. Behav. Neurosci. PD MAR PY 2014 VL 14 IS 1 BP 407 EP 425 DI 10.3758/s13415-013-0205-3 PG 19 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AE5UZ UT WOS:000334056100032 PM 23955101 ER PT J AU Roca, M Manes, F Gleichgerrcht, E Ibanez, A de Toledo, MEG Marenco, V Bruno, D Torralva, T Sinay, V AF Roca, Maria Manes, Facundo Gleichgerrcht, Ezequiel Ibanez, Agustin Gonzalez de Toledo, Maria E. Marenco, Victoria Bruno, Diana Torralva, Teresa Sinay, Vladimiro TI Cognitive but Not Affective Theory of Mind Deficits in Mild Relapsing-Remitting Multiple Sclerosis SO COGNITIVE AND BEHAVIORAL NEUROLOGY LA English DT Article DE frontal lobe; executive function; theory of mind; multiple sclerosis; cognition ID ASPERGER-SYNDROME; SOCIAL COGNITION; LOBE CONTRIBUTIONS; EMPATHY; IMPAIRMENTS; LESIONS; AUTISM; ADULTS; BRAIN; SCALE AB Objective: We studied theory of mind (ToM) in patients with mild relapsing-remitting multiple sclerosis (MS), seeking possible dissociations between its 2 components: cognitive ToM (the ability to infer others' intentions) and affective ToM (the ability to infer others' emotional states). We analyzed the relationship of ToM to executive function, depression, and fatigue. Background: Dissociations between cognitive and affective ToM have been found in several neurologic and neuropsychiatric diseases. Most ToM studies in patients with MS have shown general ToM deficits but have not analyzed the cognitive and affective aspects individually. Methods: We used the Faux Pas test of ToM and tests of executive function to assess 18 patients with mild relapsing-remitting MS and 16 control participants. Results: Our patients showed deficits in cognitive ToM, but their affective ToM seemed to be spared. Their cognitive ToM deficits were not related to executive dysfunction, depression, or fatigue. Conclusions: Our study is the first differential analysis showing cognitive but not affective ToM deficits in mild relapsing-remitting MS. Further research is needed to determine the exact nature and the real impact of these deficits, and to establish their relationship with the neuropathology and progression of MS. C1 [Roca, Maria; Manes, Facundo; Gleichgerrcht, Ezequiel; Ibanez, Agustin; Gonzalez de Toledo, Maria E.; Marenco, Victoria; Bruno, Diana; Torralva, Teresa; Sinay, Vladimiro] Inst Cognit Neurol, Buenos Aires, DF, Argentina. [Roca, Maria; Manes, Facundo; Gleichgerrcht, Ezequiel; Gonzalez de Toledo, Maria E.; Torralva, Teresa; Sinay, Vladimiro] Favaloro Univ, Inst Neurosci, Buenos Aires, DF, Argentina. [Roca, Maria; Ibanez, Agustin] Diego Portales Univ, UDP INECO Fdn Core Neurosci UIFCoN, Santiago, Chile. [Ibanez, Agustin] Natl Sci & Tech Res Council, Buenos Aires, DF, Argentina. RP Roca, M (reprint author), Inst Cognit Neurol, Pacheco de Melo 1854,C1126AAB, Buenos Aires, DF, Argentina. EM mroca@ineco.org.ar FU Merck Serono; Fondo Nacional de Desarrollo Cientifico y Tecnologico [1130920]; Consejo Nacional de Investigaciones Cientificas y Tecnicas; Fundacion Instituto de Neurologia Cognitiva FX Supported in part by an unrestricted grant from Merck Serono (V. 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Our main aim was to characterize the relationship between mental state understanding and the broader autism phenotype, early in childhood. An eye-tracker was used to capture anticipatory looking as a measure of false beliefs attribution in 3-year-old children with a family history of autism (at-risk participants, n = 47) and controls (control participants, n = 39). Unlike controls, the at-risk group, independent of their clinical outcome (ASD, broader autism phenotype or typically developing), performed at chance. Performance was not related to children's verbal or general IQ, nor was it explained by children "missing out" on crucial information, as shown by an analysis of visual scanning during the task. We conclude that difficulties with using mental state understanding for action prediction may be an endophenotype of autism spectrum disorders. 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Psychol. PD MAR PY 2014 VL 50 IS 3 BP 903 EP 913 DI 10.1037/a0034146 PG 11 WC Psychology, Developmental SC Psychology GA AF2DS UT WOS:000334523400024 PM 23978296 ER PT J AU Kose, H Akalin, N Uluer, P AF Kose, Hatice Akalin, Neziha Uluer, Pinar TI Socially Interactive Robotic Platforms as Sign Language Tutors SO INTERNATIONAL JOURNAL OF HUMANOID ROBOTICS LA English DT Article DE Humanoid robots; interaction games; nonverbal communication; sign language ID CHILDREN; AUTISM AB This paper investigates the role of interaction and communication kinesics in human-robot interaction. This study is part of a novel research project on sign language (SL) tutoring through interaction games with humanoid robots. The main goal is to motivate the children with communication problems to understand and imitate the signs implemented by the robot using basic upper torso gestures and sound. We present an empirical and exploratory study investigating the effect of basic nonverbal gestures consisting of hand movements, body and face gestures expressed by a humanoid robot, and having comprehended the word, the participants will give relevant feedback in SL. This way the participant is both a passive observer and an active imitator throughout the learning process in different phases of the game. A five-fingered R3 robot platform and a three-fingered Nao H-25 robot are employed within the games. Vision-, sound-, touch-and motion-based cues are used for multimodal communication between the robot, child and therapist/parent within the study. This paper presents the preliminary results of the proposed game tested with adult participants. The aim is to evaluate the SL learning ability of participants from a robot, and compare different robot platforms within this setup. C1 [Kose, Hatice; Akalin, Neziha; Uluer, Pinar] Istanbul Tech Univ, Fac Comp & Informat, TR-80626 Istanbul, Turkey. RP Kose, H (reprint author), Istanbul Tech Univ, Fac Comp & Informat, TR-80626 Istanbul, Turkey. EM hatice.kose@itu.edu.tr; akalinn@itu.edu.tr; pinar.uluer@itu.edu.tr RI Kose, Hatice/C-6322-2013 OI Kose, Hatice/0000-0003-4796-4766 FU Scientific and Technological Research Council of Turkey [TUBITAK KARIYER 111E283]; Istanbul Technical University Scientific Research Projects Foundation [BAP 37255] FX Research supported by the Scientific and Technological Research Council of Turkey under the contract TUBITAK KARIYER 111E283, and partially supported by Istanbul Technical University Scientific Research Projects Foundation under the contract BAP 37255. 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PD MAR PY 2014 VL 11 IS 1 SI SI AR 1450003 DI 10.1142/S0219843614500030 PG 22 WC Robotics SC Robotics GA AF3HN UT WOS:000334602700003 ER PT J AU Lai, FYX Serraglio, C Martin, JA AF Lai, Francis Y. X. Serraglio, Claire Martin, Jenepher A. TI Examining potential barriers to early intervention access in Australian hearing impaired children SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY LA English DT Article DE Access; Early intervention; Geographical location; Hearing loss; Ethnic-minority family; Soda-economic status ID LANGUAGE; SERVICES; AUTISM AB Objectives: Early intervention for children with hearing loss involves assistance in oral speech development, optimal use of hearing devices and fostering a holistic partnership between allied health and the children's families. Adequate access to early intervention has been shown to be vital in the positive development of long term language and social outcomes. However, there has been limited research to identify the factors which may influence access. This study aimed to explore whether access to early intervention by children with hearing loss is affected by: geographical location, socio-economic status and ethnic-minority family status. Methods: A cross-sectional research design was used in this study incorporating a survey of early intervention coordinators and an audit of an organization database. All (N = 11) early intervention coordinators at an "Oral Language Centre for Deaf Children" in the state of Victoria, Australia were surveyed on whether child clients (N = 133) were accessing an appropriate level of early intervention corresponding to their level of hearing loss. The length of time for each child to enroll for early intervention following diagnosis was obtained from the database of the organization. Potential differences in access between geographical groups, between socio-economic status groups and between ethnic-minority and non-minority groups were analyzed using inferential statistics. Results: Closer geographical proximity to early intervention services was associated with more appropriate (P = .000) and more prompt (P = .005) access. No difference in access to early intervention was detected for different socio-economic status groups. Although, ethnic-minority family status was not shown to influence the level of access, it took a significantly longer time for ethnic-minority families to enroll for early intervention compared to non-minority families (P = .04). Conclusions: Findings suggest that geographical proximity and ethnic-minority family status, instead of sodo-economic status, are more likely to be potential barriers to early intervention access in children with hearing loss. From the health promotion perspective, attention should be directed towards these potential barriers. (C) 2014 Elsevier Ireland Ltd. All rights reserved. C1 [Lai, Francis Y. X.; Serraglio, Claire] Monash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic 3004, Australia. [Martin, Jenepher A.] Monash Univ, Eastern Hlth Clin Sch, Melbourne, Vic 3004, Australia. [Martin, Jenepher A.] Deakin Univ, Melbourne, Vic, Australia. RP Lai, FYX (reprint author), Monash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic 3004, Australia. 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J. Pediatr. Otorhinolaryngol. PD MAR PY 2014 VL 78 IS 3 BP 507 EP 512 DI 10.1016/j.ijporl.2013.12.032 PG 6 WC Otorhinolaryngology; Pediatrics SC Otorhinolaryngology; Pediatrics GA AF0HH UT WOS:000334394400022 PM 24485179 ER PT J AU Frolander, HE Moller, C Marshall, JD Sundqvist, A Ronnasen, B Falkensson, L Lyxell, B AF Frolander, Hans Erik Moller, Claes Marshall, Jan D. Sundqvist, Annette Ronnasen, Berit Falkensson, Lil Lyxell, Bjorn TI Theory-of-mind in adolescents and young adults with Alstrom syndrome SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY LA English DT Article DE Alstrom syndrome (ALMS); Deafblindness; Theory-of-mind Working memory; Verbal ability; Dual sensory loss ID STRANGE STORIES TEST; FRAGILE-X-SYNDROME; ASPERGER-SYNDROME; WORKING-MEMORY; FALSE BELIEF; CHILDREN; LANGUAGE; AUTISM; HEARING; DEAF AB Objective: The study focuses on theory-of-mind in adolescents and young adults with Alstrom syndrome (ALMS). ALMS, an autosomal recessive syndrome causes juvenile blindness, sensorineural hearing loss, cardiomyopathy, endocrinological disorders and metabolic dysfunction. Theory-of-mind (TOM) refers to the ability to impute mental states to one self and to others. Clinical observations have revealed an increased occurrence of deviances in mental state understanding in ALMS. In the present study ToM will be examined and related to working memory (WM), verbal ability and sensory loss. Methods: Twelve young individuals (16-37 years) with ALMS and 24 nondisabled individuals matched on age, gender and educational level participated. ToM was assessed by means of a multiple task that taxes the ability to understand thoughts and feelings of story characters'. WM was examined by means of a reading span task and verbal ability by means of a vocabulary test. Results: The ALMS group performed at significantly lower levels in ToM tasks and displayed a higher variability in performance than the control group. Individuals with ALMS and a relatively poor level performance provided fewer correct mental state inferences in ToM tasks than ALMS individuals with relatively higher performance levels. ALMS individuals with relatively high performance levels made as many correct inferences in ToM tasks as the control group, but their inferences were more often incomplete. Vocabulary skills and educational level, but not WM-capacity predicted ToM performance. Degree of deafblindness did not have an impact on ToM. Age of onset of visual loss but not hearing loss related to ToM. Conclusions: The individuals with ALMS display a high degree of heterogeneity in terms of ToM, where some individuals reached performance levels comparable to nondisabled individuals. The results are discussed with respect to how cognitive and verbal abilities and factors related to the disability affect ToM. (C) 2014 Elsevier Ireland Ltd. All rights reserved. C1 [Frolander, Hans Erik; Moller, Claes; Ronnasen, Berit] Univ Orebro, Hlth Acad, SE-70182 Orebro, Sweden. [Frolander, Hans Erik; Moller, Claes; Ronnasen, Berit] Orebro Univ Hosp, Audiol Res Ctr, SE-70185 Orebro, Sweden. [Moller, Claes] Orebro Univ Hosp, Dept Audiol, SE-70185 Orebro, Sweden. [Sundqvist, Annette; Lyxell, Bjorn] Linkoping Univ, Dept Behav Sci & Learning, SE-58183 Linkoping, Sweden. [Frolander, Hans Erik; Moller, Claes; Sundqvist, Annette; Ronnasen, Berit; Lyxell, Bjorn] Swedish Inst Disabil Res, Linkoping, Sweden. [Moller, Claes; Sundqvist, Annette; Lyxell, Bjorn] Linnaeus Ctr HEAD, Linkoping, Sweden. [Frolander, Hans Erik] Grad Sch, Res Hearing & Deafness HEAD, Linkoping, Sweden. [Marshall, Jan D.] Jackson Lab, Bar Harbor, ME 04609 USA. [Falkensson, Lil] Natl Resource Ctr, Swedish Natl Expert Team Diagnoses Deajblindness, SE-22350 Lund, Sweden. RP Frolander, HE (reprint author), Univ Orebro, Sch Hlth & Med Sci, Fakultetsgatan 1, S-70112 Orebro, Sweden. EM hans-erik.frolander@spsm.se FU Linnaeus Centre HEAD; JDM; NIH [HD036878] FX ` The authors would like to thank the Alstrom Syndrome International for enabling and supporting data-retrieval, specific thanks to Heather Piacentini for interpreting. Thanks to the participants in the study. Thanks to Franceska Happe at the Department of Psychiatry, Kings Colleague in London, for introducing the strange stories-test she has developed. Thanks also to the staff at the Audiological Research Centre at the University hospital in Orebro, specific thanks to Arvid Bjiirndahl and Hanna Hagsten for help to retrieve and register data. Support was provided by the Linnaeus Centre HEAD and for JDM by the NIH HD036878. 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J. Pediatr. Otorhinolaryngol. PD MAR PY 2014 VL 78 IS 3 BP 530 EP 537 DI 10.1016/j.ijpor1.2013.12.038 PG 8 WC Otorhinolaryngology; Pediatrics SC Otorhinolaryngology; Pediatrics GA AF0HH UT WOS:000334394400026 PM 24485176 ER PT J AU Sundqvist, A Lyxell, B Jonsson, R Heimann, M AF Sundqvist, Annette Lyxell, Bjorn Jonsson, Radoslava Heimann, Mikael TI Understanding minds: Early cochlear implantation and the development of theory of mind in children with profound hearing impairment SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY LA English DT Article DE Theory of mind; Cochlear implants ID MENTAL STATE LANGUAGE; DEAF-CHILDREN; SOCIAL COGNITION; AUTISM; ATTACHMENT; IMITATION; FEELINGS; INFANTS; QUALITY; SARCASM AB Objective: The present study investigates how auditory stimulation from cochlear implants (CI) is associated with the development of Theory of Mind (TOM) in severely and profoundly hearing impaired children with hearing parents. Previous research has shown that deaf children of hearing parents have a delayed ToM development. This is, however, not always the case with deaf children of deaf parents, who presumably are immersed in a more vivid signing environment. Methods: Sixteen children with CI (4.25 to 9.5 years of age) were tested on measures of cognitive and emotional ToM, language and cognition. Eight of the children received their first implant relatively early (before 27 months) and half of them late (after 27 months). The two groups did not differ in age, gender, language or cognition at entry of the study. ToM tests included the unexpected location task and a newly developed Swedish social-emotional ToM test. The tests aimed to test both cognitive and emotional ToM. A comparison group of typically developing hearing age matched children was also added (n = 18). Results: Compared to the comparison group, the early Cl-group did not differ in emotional ToM. The late CI-group differed significantly from the comparison group on both the cognitive and emotional ToM tests. Conclusion: The results revealed that children with early cochlear implants solved ToM problems to a significantly higher degree than children with late implants, although the groups did not differ on language or cognitive measures at baseline. The outcome suggests that early cochlear implantation for deaf children in hearing families, in conjunction with early social and communicative stimulation in a language that is native to the parents, can provide a foundation for a more normalized ToM development. (C) 2014 Elsevier Ireland Ltd. All rights reserved. C1 [Sundqvist, Annette; Lyxell, Bjorn; Heimann, Mikael] Linkoping Univ, Dept Behav Sci & Learning, SE-58183 Linkoping, Sweden. [Sundqvist, Annette; Lyxell, Bjorn; Heimann, Mikael] Linkoping Univ, Swedish Inst Disabil Res, SE-58183 Linkoping, Sweden. [Jonsson, Radoslava] Univ Gothenburg, Dept Otolaryngol, Sahlgrens Univ Hosp, Gothenburg, Sweden. [Jonsson, Radoslava] Univ Gothenburg, Sahlgrenska Acad, Gothenburg, Sweden. RP Sundqvist, A (reprint author), Linkoping Univ, Dept Behav Sci & Learning, SE-58183 Linkoping, Sweden. EM anett.sundqvist@liu.se FU Swedish Hearing Foundation [B 2007/03]; Swedish Council for Working Life and Social Research, Stockholm, Sweden [grant No. 2007-0855]; ALF-Sahlgrenska University Hospital FX The authors wish to thank all the participating children and their families as well as Maria Olsson for performing the testing for all the children with cochlear implants. We also wish to thank Johan Troedsson and Marie-Louise Henriksson for testing the children in the control group. Support for this research was provided by research grants from the Swedish Hearing Foundation (B 2007/03) to Mikael Heimann, from the Swedish Council for Working Life and Social Research, Stockholm, Sweden to Bjorn Lyxell (grant No. 2007-0855) and from ALF-Sahlgrenska University Hospital funding/agreement concerning research and education of medical doctors to Radoslava Jonsson. A preliminary version of data presented in this article has been presented at the First World Conference on Cognitive Hearing Science, Linkoping, Sweden, 2011 as well as at the Society for Research in Chid Development, in Montreal, Canada, 2011. 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PD SPR PY 2014 VL 11 IS 1 BP 101 EP 116 DI 10.1111/emre.12026 PG 16 WC Management SC Business & Economics GA AE8KI UT WOS:000334248600007 ER PT J AU Cosgrave, N McDevitt, N Reilly, R Gallagher, L AF Cosgrave, Niall McDevitt, Niamh Reilly, Richard Gallagher, Louise TI Investigations into the electroencephalography of visuospatial processing: an initial study into atypicalities in autism spectrum disorder SO IRISH JOURNAL OF MEDICAL SCIENCE LA English DT Meeting Abstract C1 [Cosgrave, Niall; McDevitt, Niamh; Reilly, Richard; Gallagher, Louise] Univ Dublin Trinity Coll, Trinity Ctr Bioengn, Trinity Ctr Neurosci, Dublin 2, Ireland. EM ncosgrav@tcd.i.e RI Reilly, Richard/F-7034-2011 OI Reilly, Richard/0000-0001-8578-1245 NR 0 TC 0 Z9 0 PU SPRINGER LONDON LTD PI LONDON PA 236 GRAYS INN RD, 6TH FLOOR, LONDON WC1X 8HL, ENGLAND SN 0021-1265 EI 1863-4362 J9 IRISH J MED SCI JI Irish J. Med. Sci. PD MAR PY 2014 VL 183 SU 2 BP S81 EP S81 PG 1 WC Medicine, General & Internal SC General & Internal Medicine GA AF2CS UT WOS:000334520800024 ER PT J AU Pasquali, M Schwarz, E Jensen, M Yuzyuk, T DeBiase, I Randall, H Longo, N AF Pasquali, Marzia Schwarz, Elisabeth Jensen, Maren Yuzyuk, Tatiana DeBiase, Irene Randall, Harper Longo, Nicola TI Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency SO JOURNAL OF INHERITED METABOLIC DISEASE LA English DT Article ID INBORN ERROR; PRESYMPTOMATIC TREATMENT; CREATINE METABOLISM; ARGININE AB Guanidinoacetate methyltransferase (GAMT) deficiency causes brain creatine deficiency characterized by developmental delays, speech delay, seizures and autism-like behavior. Identification and therapy at birth because of a positive family history has prevented intellectual disability and seizures in all cases reported. The objective of this study was to develop a method to identify patients with GAMT deficiency from newborn screening blood spots. Creatine and guanidinoacetate were extracted from 10,000 deidentified blood spots using the same protocol routinely used for newborn screening and quantified by stable isotope dilution using deuterated creatine and guanidinoacetate as internal standards. Residual dried blood spots from three infants with GAMT deficiency were used to evaluate the sensitivity of the method. A second tier test using UPLC-MS/MS was performed to analyze samples with a concentration of guanidinoacetate > 2.44 mu mol/L (99.5th centile of the normal population). Fifty four blood spots required second tier testing in addition to seven blood spots from three patients with GAMT deficiency retrospectively analyzed. With second tier testing, only the samples from GAMT deficiency patients had elevated concentration of guanidinoacetate. Our results show that GAMT deficiency can be identified in newborns using routine extraction methods. The cost of this additional screening is minimal, as it does not require additional instrumentation, procedure, or sample collection. The use of a second tier test can reduce the false positive rate to a minimum. Summary Brain creatine deficiency syndromes cause mental retardation that can be prevented if therapy is initiated early in life. This manuscript reports that infants with GAMT deficiency (one of the brain creatine deficiency syndromes) can be identified from elevated guanidinoacetate in newborn blood spots with virtually absent false-positive results using a second tier test. C1 [Pasquali, Marzia; Yuzyuk, Tatiana; DeBiase, Irene; Longo, Nicola] Univ Utah, Dept Pathol, Salt Lake City, UT 84108 USA. [Pasquali, Marzia; Yuzyuk, Tatiana; DeBiase, Irene; Longo, Nicola] ARUP Labs, Salt Lake City, UT 84108 USA. [Pasquali, Marzia; Schwarz, Elisabeth; Jensen, Maren; Yuzyuk, Tatiana; DeBiase, Irene; Longo, Nicola] ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA. [Pasquali, Marzia; Longo, Nicola] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT 84108 USA. [Randall, Harper] Utah Dept Hlth, Salt Lake City, UT 84116 USA. RP Pasquali, M (reprint author), ARUP Labs, 500 Chipeta Way, Salt Lake City, UT 84108 USA. EM PASQUAM@aruplab.com FU University of Utah [VP_00000490] FX University of Utah Intramural Award VP_00000490. 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PD MAR PY 2014 VL 37 IS 2 BP 231 EP 236 DI 10.1007/s10545-013-9662-7 PG 6 WC Endocrinology & Metabolism; Genetics & Heredity SC Endocrinology & Metabolism; Genetics & Heredity GA AE8TM UT WOS:000334274900009 PM 24276113 ER PT J AU Michael, J Christensen, W Overgaard, S AF Michael, John Christensen, Wayne Overgaard, Soren TI Mindreading as social expertise SO SYNTHESE LA English DT Article DE Social interaction; Social cognition; Expertise Mindreading; Interactionism; Enactivism ID TERM WORKING-MEMORY; WILLIAMS-SYNDROME; PREVERBAL INFANTS; MOEBIUS-SYNDROME; LANGUAGE IMPAIRMENT; FACIAL EXPRESSION; DIRECT PERCEPTION; AUTISM SPECTRUM; FALSE BELIEF; EYE CONTACT AB In recent years, a number of approaches to social cognition research have emerged that highlight the importance of embodied interaction for social cognition (Reddy, How infants know minds, 2008; Gallagher, J Conscious Stud 8:83-108, 2001; Fuchs and Jaegher, Phenom Cogn Sci 8:465-486, 2009; Hutto, in Seemans (ed.) 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Anagnostou, Evdokia TI An Update on Medication Management of Behavioral Disorders in Autism SO CURRENT PSYCHIATRY REPORTS LA English DT Article DE Autism spectrum disorder; Medication; Psychopharmacology; Antipsychotic; Antidepressant; Anticonvulsant; Psychostimulant; Behavioral disorder; Hyperactivity; Irritability ID PERVASIVE DEVELOPMENTAL DISORDERS; PLACEBO-CONTROLLED TRIAL; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY DISORDER; OBSESSIVE-COMPULSIVE SCALE; TEACHER RATING-SCALE; DOUBLE-BLIND TRIAL; SPECTRUM DISORDERS; OPEN-LABEL; REPETITIVE BEHAVIORS AB Autism spectrum disorder is often comorbid with behavioral disturbances such as irritability, aggression and hyperactivity. Throughout the mid 2000s, several large-scale controlled clinical trials were published leading to the approval of two medications (aripiprazole and risperidone) for treatment of irritability in this condition. This review serves as an update regarding new research findings regarding psychopharmacology for children and adolescents with ASD. In summary, the past five years have yielded no further approved medications with ASD as a primary indication. Important new research results include 1) long-term safety and efficacy data (52 week) regarding treatment with aripiprazole for irritability, 2) consensus regarding potential harm from SSRIs for treatment of repetitive behaviors in children/adolescents with ASD, 3) a randomized controlled trial showing modest benefits from atomoxetine on hyperactivity, 4) many novel agents currently under investigation. C1 [Baribeau, Danielle A.] Univ Toronto, Dept Psychiat, Toronto, ON, Canada. [Anagnostou, Evdokia] Univ Toronto, Dept Pediat, Toronto, ON, Canada. [Anagnostou, Evdokia] Holland Bloorview Kids Rehabil Hosp, Toronto, ON M4G 1R8, Canada. 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Psychiatry Rep. PD MAR PY 2014 VL 16 IS 3 AR 437 DI 10.1007/s11920-014-0437-0 PG 13 WC Psychiatry SC Psychiatry GA AE5VP UT WOS:000334057700002 PM 24488702 ER PT J AU [Anonymous] AF [Anonymous] TI Improving autism care: the NICE quality standard SO PERSPECTIVES IN PUBLIC HEALTH LA English DT Editorial Material NR 0 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1757-9139 EI 1757-9147 J9 PERSPECT PUBLIC HEAL JI Perspect. Public Health PD MAR PY 2014 VL 134 IS 2 BP 64 EP 64 DI 10.1177/1757913914523909 PG 1 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA AC6FG UT WOS:000332616300010 ER PT J AU Cook, J Swapp, D Pan, X Bianchi-Berthouze, N Blakemore, SJ AF Cook, J. Swapp, D. Pan, X. Bianchi-Berthouze, N. Blakemore, S-J. TI Atypical interference effect of action observation in autism spectrum conditions SO PSYCHOLOGICAL MEDICINE LA English DT Article DE interference; biological motion; imitation; Autism; mirror neurons ID MIRROR NEURON DYSFUNCTION; BIOLOGICAL MOTION; IMITATION IMPAIRMENTS; MOVEMENT INTERFERENCE; ROBOT ACTIONS; EEG EVIDENCE; DISORDERS; CHILDREN; INDIVIDUALS; RECOGNITION AB Background Observing incongruent actions interferes with ongoing action execution. This 'interference effect' is larger for observed biological actions than for non-biological actions. The current study used virtual reality to investigate the biological specificity of interference effects of action observation in autism spectrum conditions (ASC). Method High-functioning adults with ASC and age- and IQ-matched healthy controls performed horizontal sinusoidal arm movements whilst observing arm movements conducted by a virtual reality agent with either human or robot form, which moved with either biological motion or at a constant velocity. In another condition, participants made the same arm movements while observing a real human. Observed arm movements were either congruent or incongruent with executed arm movements. An interference effect was calculated as the average variance in the incongruent action dimension during observation of incongruent compared with congruent movements. Results Control participants exhibited an interference effect when observing real human and virtual human agent incongruent movements but not when observing virtual robot agent movements. Individuals with ASC differed from controls in that they showed no interference effects for real human, virtual human or virtual robot movements. Conclusions The current study demonstrates atypical interference effects in ASC. C1 [Cook, J.; Blakemore, S-J.] UCL Inst Cognit Neurosci, London, England. [Cook, J.] Radboud Univ Nijmegen, Donders Ctr Cognit Neuroimaging, NL-6525 ED Nijmegen, Netherlands. [Cook, J.] Univ Cambridge, Dept Psychiat, Cambridge, England. [Swapp, D.; Pan, X.] UCL Dept Comp Sci, London, England. [Bianchi-Berthouze, N.] UCL Interact Ctr, London, England. RP Cook, J (reprint author), Radboud Univ Nijmegen, Donders Ctr Cognit Neuroimaging, NL-6525 ED Nijmegen, Netherlands. EM jennifer.cook@donders.ru.nl FU Wellcome Trust studentship [082910/Z/07/Z]; Royal Society University Research Fellowship; Wellcome Trust; Royal Society FX J.C. was supported by a Wellcome Trust studentship (grant no. 082910/Z/07/Z). S-J.B. was supported by a Royal Society University Research Fellowship. This study was funded by the Wellcome Trust and the Royal Society. 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PD MAR PY 2014 VL 44 IS 4 BP 731 EP 740 DI 10.1017/S0033291713001335 PG 10 WC Psychology, Clinical; Psychiatry; Psychology SC Psychology; Psychiatry GA AD0WJ UT WOS:000332954700007 PM 23759288 ER PT J AU Roberts, TPL Heiken, K Zarnow, D Dell, J Nagae, L Blaskey, L Solot, C Levy, SE Berman, JI Edgar, JC AF Roberts, T. P. L. Heiken, K. Zarnow, D. Dell, J. Nagae, L. Blaskey, L. Solot, C. Levy, S. E. Berman, J. I. Edgar, J. C. TI Left Hemisphere Diffusivity of the Arcuate Fasciculus: Influences of Autism Spectrum Disorder and Language Impairment SO AMERICAN JOURNAL OF NEURORADIOLOGY LA English DT Article ID RADIAL DIFFUSIVITY; WHITE-MATTER; DEMYELINATION; INCREASES; BIOMARKER; FIELD AB BACKGROUND AND PURPOSE: There has been much discussion whether brain abnormalities associated with specific language impairment and autism with language impairment are shared or are disorder specific. Although white matter tract abnormalities are observed in both specific language impairment and autism spectrum disorders, the similarities and differences in the white matter abnormalities in these 2 disorders have not been fully determined. MATERIALS AND METHODS: Diffusion tensor imaging diffusion parameters of the arcuate fasciculus were measured in 14 children with specific language impairment as well as in 16 children with autism spectrum disorder with language impairment, 18 with autism spectrum disorder without language impairment, and 25 age-matched typically developing control participants. RESULTS: Language impairment and autism spectrum disorder both had (elevating) main effects on mean diffusivity of the left arcuate fasciculus, initially suggesting a shared white matter substrate abnormality. Analysis of axial and radial diffusivity components, however, indicated that autism spectrum disorder and language impairment differentially affect white matter microstructural properties, with a main effect of autism spectrum disorder on axial diffusivity and a main effect of language impairment on radial diffusivity. CONCLUSIONS: Although white matter abnormalities appear similar in language impairment and autism spectrum disorder when examining broad white matter measures, a more detailed analysis indicates different mechanisms for the white matter microstructural anomalies associated with language impairment and autism spectrum disorder. The authors used DTI measurements of the arcuate fasciculus in 14 children with language impairment, in 16 autistic children with language impairment, 18 autistic children without language impairment, and 25 controls. Although white matter abnormalities appeared similar in language impairment and autism spectrum disorder when examining broad white matter measures, detailed analysis indicated different mechanisms for the white matter microstructural anomalies associated with these disorders. C1 [Roberts, T. P. L.; Heiken, K.; Zarnow, D.; Dell, J.; Nagae, L.; Blaskey, L.; Solot, C.; Levy, S. E.; Berman, J. I.; Edgar, J. C.] Childrens Hosp Philadelphia, Dept Radiol, Lurie Family Fdn MEG Imaging Ctr, Philadelphia, PA 19104 USA. RP Roberts, TPL (reprint author), Childrens Hosp Philadelphia, 34th & Civ Ctr Blvd,Suite 2115,Wood Bldg, Philadelphia, PA 19104 USA. FU [NIH-R01DC008871]; [NIH-P30HD026979] FX This work was supported by NIH-R01DC008871 and NIH-P30HD026979 grants. 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PD MAR PY 2014 VL 99 IS 3 BP 292 EP 296 DI 10.1136/archdischild-2012-303569 PG 5 WC Pediatrics SC Pediatrics GA AD7YO UT WOS:000333483600028 PM 24255567 ER PT J AU Enticott, PG Fitzgibbon, BM Kennedy, HA Arnold, SL Elliot, D Peachey, A Zangen, A Fitzgerald, PB AF Enticott, Peter G. Fitzgibbon, Bernadette M. Kennedy, Hayley A. Arnold, Sara L. Elliot, David Peachey, Amy Zangen, Abraham Fitzgerald, Paul B. TI A Double-blind, Randomized Trial of Deep Repetitive Transcranial Magnetic Stimulation (rTMS) for Autism Spectrum Disorder SO BRAIN STIMULATION LA English DT Article DE Deep rTMS; Autism spectrum disorder; Medial prefrontal cortex; Mentalizing; Social relating ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; MIND; QUOTIENT; EMPATHY; ADULTS; BRAIN AB Background: Biomedical treatment options for autism spectrum disorder (ASD) are extremely limited. Repetitive transcranial magnetic stimulation (rTMS) is a safe and efficacious technique when targeting specific areas of cortical dysfunction in major depressive disorder, and a similar approach could yield therapeutic benefits in ASD, if applied to relevant cortical regions. Objective: The aim of this study was to examine whether deep rTMS to bilateral dorsomedial prefrontal cortex improves social relating in ASD. Methods: 28 adults diagnosed with either autistic disorder (high-functioning) or Asperger's disorder completed a prospective, double-blind, randomized, placebo-controlled design with 2 weeks of daily weekday treatment. This involved deep rTMS to bilateral dorsomedial prefrontal cortex (5 Hz, 10-s train duration, 20-s inter-train interval) for 15 min (1500 pulses per session) using a HAUT-Coil. The sham rTMS coil was encased in the same helmet of the active deep rTMS coil, but no effective field was delivered into the brain. Assessments were conducted before, after, and one month following treatment. Results: Participants in the active condition showed a near significant reduction in self-reported social relating symptoms from pre-treatment to one month follow-up, and a significant reduction in social relating symptoms (relative to sham participants) for both post-treatment assessments. Those in the active condition also showed a reduction in self-oriented anxiety during difficult and emotional social situations from pre-treatment to one month follow-up. There were no changes for those in the sham condition. Conclusion: Deep rTMS to bilateral dorsomedial prefrontal cortex yielded a reduction in social relating impairment and socially-related anxiety. Further research in this area should employ extended rTMS protocols that approximate those used in depression in an attempt to replicate and amplify the clinical response. (C) 2014 Elsevier Inc. All rights reserved. C1 [Enticott, Peter G.; Fitzgibbon, Bernadette M.; Kennedy, Hayley A.; Arnold, Sara L.; Elliot, David; Peachey, Amy; Fitzgerald, Paul B.] Monash Univ, Alfred & Cent Clin Sch, Monash Alfred Psychiat Res Ctr, Melbourne, Vic 3004, Australia. [Zangen, Abraham] Ben Gurion Univ Negev, Beer Sheva, Israel. RP Enticott, PG (reprint author), Monash Univ, Alfred & Cent Clin Sch, Monash Alfred Psychiat Res Ctr, Level 4,607 St Kilda Rd, Melbourne, Vic 3004, Australia. EM peter.enticott@deakin.edu.au RI Fitzgerald, Paul/A-1225-2008 OI Fitzgerald, Paul/0000-0003-4217-8096 FU Neuronetics Ltd. FX PF has previously received support for participation in a research study from Neuronetics Ltd. and equipment for research from Mag-Venture A/S. Part of the equipment used to provide deep repetitive transcranial magnetic stimulation was provided to PF by Brainsway Ltd. (Jerusalem, Israel), a company that develops nonsurgical equipment for deep transcranial magnetic stimulation. AZ has financial interest in Brainsway Ltd. The remaining authors have no conflict of interest to declare. 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Zhang, Chaolin TI HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism SO CELL REPORTS LA English DT Article ID SINGLE-NUCLEOTIDE RESOLUTION; PROTEIN-RNA INTERACTIONS; LIVING CELLS; IN-VIVO; FOX-1; GENE; EXPRESSION; REVEALS; GENOME; SITES AB The RNA binding proteins Rbfox1/2/3 regulate alternative splicing in the nervous system, and disruption of Rbfox1 has been implicated in autism. However, comprehensive identification of functional Rbfox targets has been challenging. Here, we perform HITS-CLIP for all three Rbfox family members in order to globally map, at a single-nucleotide resolution, their in vivo RNA interaction sites in the mouse brain. We find that the two guanines in the Rbfox binding motif UGCAUG are critical for protein-RNA interactions and crosslinking. Using integrative modeling, these interaction sites, combined with additional datasets, define 1,059 direct Rbfox target alternative splicing events. Over half of the quantifiable targets show dynamic changes during brain development. Of particular interest are 111 events from 48 candidate autism-susceptibility genes, including syndromic autism genes Shank3, Cacna1c, and Tsc2. Alteration of Rbfox targets in some autistic brains is correlated with downregulation of all three Rbfox proteins, supporting the potential clinical relevance of the splicing-regulatory network. C1 [Weyn-Vanhentenryck, Sebastien M.; Yan, Qinghong; Zhang, Chaolin] Columbia Univ, Ctr Motor Neuron Biol & Dis, Dept Biochem & Mol Biophys, Dept Syst Biol, New York, NY 10032 USA. [Mele, Aldo; Herre, Margaret; Darnell, Robert B.] Rockefeller Univ, Mol Neurooncol Lab, Howard Hughes Med Inst, New York, NY 10065 USA. [Sun, Shuying; Zhang, Zuo; Xue, Chenghai; Krainer, Adrian R.] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA. [Sun, Shuying] Univ Calif San Diego, Ludwig Inst Canc Res, La Jolla, CA 92093 USA. [Farny, Natalie; Silver, Pamela A.] Harvard Univ, Sch Med, Dept Syst Biol, Boston, MA 02115 USA. [Zhang, Zuo] Merck & Co Inc, Merck Res Labs, Rahway, NJ 07065 USA. [Zhang, Michael Q.] Univ Texas Dallas, Ctr Syst Biol, Dept Mol & Cell Biol, Richardson, TX 75080 USA. [Zhang, Michael Q.] Tsinghua Univ, TNLIST, Ctr Synthet & Syst Biol, Bioinformat Div, Beijing 100084, Peoples R China. RP Darnell, RB (reprint author), Rockefeller Univ, Mol Neurooncol Lab, Howard Hughes Med Inst, New York, NY 10065 USA. EM darnelr@rockefeller.edu; cz2294@columbia.edu FU National Institutes of Health [GM74688, HG001696, GM42699, NS81706, NS34389, R00GM95713]; Simons Foundation Autism Research Initiative [240432, 297990] FX The authors would like to thank Masato Yano for generating pRbfox3 plasmid, Joe Luna for methodological development assistance, Yuan Yuan and Michael Moore for helpful discussion, Scott Dewell for high-throughput sequencing, Melis Kayikci and Jernej Ule for ASPIRE analysis, Jinbiao Ma and Judith Kribelbauer for assistance with the interpretation of the Rbfox1-RNA complex structure data, and Judith Kribelbauer for assistance with the preparation of Figure 2G. This work was supported by grants from the National Institutes of Health (GM74688 and HG001696 to M.Q.Z., GM42699 to A.R.K., NS81706 and NS34389 to R.B.D., and R00GM95713 to C.Z.) and Simons Foundation Autism Research Initiative (240432 to R.B.D. and 297990 to C.Z.). R.B.D. is a Howard Hughes Medical Institute Investigator. 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Curatolo, Paolo CA Italian-Israeli Consensus Conf TI Recommendations for early diagnosis and intervention in autism spectrum disorders: An Italian-Israeli consensus conference SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY LA English DT Review DE Autism spectrum disorders; Treatment; Early signs; Genetics; Pharmacotherapy; Neurobiology ID PRINCIPAL PATHOGENETIC COMPONENTS; YOUNG-CHILDREN; BEHAVIORAL TREATMENT; BRAIN OVERGROWTH; RISK-FACTORS; INFANTS; TODDLERS; CONNECTIVITY; MARKERS; TRAITS AB On April 2013 experts in the field of autism from Italy and Israel convened in Jerusalem to discuss and finalize clinical recommendations for early diagnosis and intervention in Autism Spectrum Disorders (ASDs). In this paper, we summarize the results of this Italian-Israeli consensus conference. ASDs constitute a class of severe and heterogeneous neurodevelopmental conditions caused by atypical brain development beginning during early prenatal life, reflecting many genetic, neurobiological and environmental influences. The first clinical signs of ASDs begin to be evident in children between 12 and 18 months of age, often after a period of relatively typical postnatal development. Recent longitudinal studies reveal substantial diversity in developmental trajectories through childhood and adolescence. Some intervention approaches have been demonstrated to be effective in improving core symptoms of ASDs, even if the heterogeneity and developmental nature of the disorder make it implausible that only one specific treatment will be best for all children with ASDs. More randomized control trials (RCTs) on early intervention are needed to identify the most effective strategies and provide the most efficient allocation of resources during the critical early intervention time period. Future research should focus on linking biological phenotypes with specific genotypes, thus establishing a foundation for the development of diagnostic screening tools and individualization of treatments. (C) 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. C1 [Zachor, Ditza A.] Tel Aviv Univ, Sackler Sch Med, Dept Pediat, Autism Ctr,Assaf Harofe Med Ctr, IL-69978 Tel Aviv, Israel. [Curatolo, Paolo] Univ Roma Tor Vergata, Pediat Neurol Unit, Dept Neurosci, I-00133 Rome, Italy. RP Curatolo, P (reprint author), Univ Roma Tor Vergata, Pediat Neurol Unit, Dept Neurosci, Via Montpellier 1, I-00133 Rome, Italy. 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PD SPR PY 2014 VL 80 IS 3 BP 262 EP 286 DI 10.1177/0014402914522423 PG 25 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AD8GC UT WOS:000333503500002 ER PT J AU Preti, A Melis, M Siddi, S Vellante, M Doneddu, G Fadda, R AF Preti, Antonio Melis, Mariangela Siddi, Sara Vellante, Marcello Doneddu, Giuseppe Fadda, Roberta TI Oxytocin and Autism: A Systematic Review of Randomized Controlled Trials SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Review ID HIGH-FUNCTIONING AUTISM; SOCIAL ANXIETY DISORDER; RECEPTOR OXTR GENE; FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; INTRANASAL OXYTOCIN; HUMAN BRAIN; AMYGDALA REACTIVITY; MENTAL-RETARDATION; CLINICAL-RESEARCH AB Objective: Little is known about the effectiveness of pharmacological interventions on autism spectrum disorder (ASD). This is a systematic review of the randomized controlled trials (RCTs) of oxytocin interventions in autism, made from January 1990 to September 2013. Method: A search of computerized databases was supplemented by manual search in the bibliographies of key publications. The methodological quality of the studies included in the review was evaluated independently by two researchers, according to a set of formal criteria. Discrepancies in scoring were resolved through discussion. Results: The review yielded seven RCTs, including 101 subjects with ASD (males=95) and 8 males with Fragile X syndrome. The main categories of target symptoms tested in the studies were repetitive behaviors, eye gaze, and emotion recognition. The studies had a medium to high risk of bias. Most studies had small samples (median=15). All the studies but one reported statistically significant between-group differences on at least one outcome variable. Most findings were characterized by medium effect size. Only one study had evidence that the improvement in emotion recognition was maintained after 6 weeks of treatment with intranasal oxytocin. Overall, oxytocin was well tolerated and side effects, when present, were generally rated as mild; however, restlessness, increased irritability, and increased energy occurred more often under oxytocin. Conclusions: RCTs of oxytocin interventions in autism yielded potentially promising findings in measures of emotion recognition and eye gaze, which are impaired early in the course of the ASD condition and might disrupt social skills learning in developing children. There is a need for larger, more methodologically rigorous RCTs in this area. Future studies should be better powered to estimate outcomes with medium to low effect size, and should try to enroll female participants, who were rarely considered in previous studies. Risk of bias should be minimized. Human long-term administration studies are necessary before clinical recommendations can be made. 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Child Adolesc. Psychopharmacol. PD MAR 1 PY 2014 VL 24 IS 2 BP 54 EP 68 DI 10.1089/cap.2013.0040 PG 15 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA AD9DF UT WOS:000333564200002 PM 24679173 ER PT J AU Wink, LK Early, M Schaefer, T Pottenger, A Horn, P McDougle, CJ Erickson, CA AF Wink, Logan K. Early, Maureen Schaefer, Tori Pottenger, Amy Horn, Paul McDougle, Christopher J. Erickson, Craig A. TI Body Mass Index Change in Autism Spectrum Disorders: Comparison of Treatment with Risperidone and Aripiprazole SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; 2ND-GENERATION ANTIPSYCHOTICS; PHARMACOLOGICAL-TREATMENT; BEHAVIORAL SYMPTOMS; CHILDREN; ADOLESCENTS; IRRITABILITY; PLACEBO; WEIGHT; MEDICATIONS AB Objective: The purpose of this study was to assess change in body mass index (BMI) and age- and gender-adjusted BMI Z-score in subjects ages 2-20 years with autism spectrum disorders (ASD), who were treated longitudinally with risperidone or aripiprazole at a tertiary care ASD clinic. Method: As part of a larger project involving longitudinal drug treatment data in ASD, detailed demographic and treatment data were collected for 142 subjects ages 2-20 years who had been started on risperidone or aripiprazole for treatment of irritability. Mean age at start of treatment, treatment duration, final Clinical Global Impressions-Improvement Scale score, BMI change per year of treatment, and BMI Z-score change per year of treatment (primary outcome measure) were calculated for each drug treatment group. Group means were compared using t tests and Wilcoxon rank sum tests. Results: There was a statistically significant BMI and BMI Z-score increase in the risperidone and aripiprazole treatment groups individually. No statistically significant difference between the two treatment groups was noted in mean BMI change per year of treatment or BMI Z-score change per year of treatment. Conclusions: In our review of long-term naturalistic treatment of irritability using risperidone versus aripiprazole in persons with ASD, a significant increase in both BMI and age- and gender-adjusted BMI Z-score was noted for each treatment group. No significant difference in BMI or BMI Z-score change was noted when the two treatment groups were compared. We conclude that in our patient population at a tertiary care ASD clinic, the effects of risperidone and aripiprazole on body weight gain in naturalistic long-term treatment are no different. C1 [Wink, Logan K.; Schaefer, Tori; Horn, Paul; Erickson, Craig A.] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA. [Early, Maureen; Pottenger, Amy] Indiana Univ Sch Med, Indianapolis, IN 46202 USA. [Horn, Paul] Univ Cincinnati, Cincinnati, OH USA. [McDougle, Christopher J.] Harvard Univ, Sch Med, Lexington, MA USA. Lurie Ctr Autism, Lexington, MA USA. RP Wink, LK (reprint author), Cincinnati Childrens Hosp Med Ctr, 3333 Burnet Ave MLC 4002, Cincinnati, OH 45229 USA. EM Logan.Wink@cchmc.org FU Bristol-Myers Squibb; Autism Speaks; Cincinnati Hospital Research Foundation; John Merck Fund; The Roche Group; the Simons Research Foundation; SynapDx; United States Department of Defense; Novartis; Seaside Therapeutics FX Dr. Erickson received past research support from and was consultant to F. Hoffman-LaRoche, Novartis, and Seaside Therapeutics. He also received past research support from Bristol-Myers Squibb. Dr. Erickson is also a current equity holder in Confluence Pharmaceuticals. He receives current research support from Autism Speaks, the Cincinnati Hospital Research Foundation, the John Merck Fund, The Roche Group, the Simons Research Foundation, SynapDx, and the United States Department of Defense. His conflicts do not overlap with the content of this manuscript. Dr. Wink and Dr. Schaefer receive current research support from the Cincinnati Children's Hospital Research Foundation the John Merck Fund, The Roche Group, the Simons Research Foundation, Synapdx, and the United States Department of Defense. Dr. Horn is a 1% owner of Shiloh Pharma, LLC. Ms. Early, Ms. Pottenger, and Dr. McDougle acknowledge no current conflicts of interest. 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Child Adolesc. Psychopharmacol. PD MAR 1 PY 2014 VL 24 IS 2 BP 78 EP 82 DI 10.1089/cap.2013.0099 PG 5 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA AD9DF UT WOS:000333564200004 PM 24564519 ER PT J AU De Alwis, D Agrawal, A Reiersen, AM Constantino, JN Henders, A Martin, NG Lynskey, MT AF De Alwis, Duneesha Agrawal, Arpana Reiersen, Angela M. Constantino, John N. Henders, Anjali Martin, Nicholas G. Lynskey, Michael T. TI ADHD Symptoms, Autistic Traits, and Substance Use and Misuse in Adult Australian Twins SO JOURNAL OF STUDIES ON ALCOHOL AND DRUGS LA English DT Article ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT-HYPERACTIVITY DISORDER; SOCIAL RESPONSIVENESS SCALE; PERVASIVE DEVELOPMENTAL DISORDER; ILLICIT DRUG-USE; SPECTRUM DISORDERS; CONDUCT DISORDER; PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; BEHAVIOR DISORDERS AB Objective: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder frequently co-occur. Several studies show increased risk of substance use disorders in ADHD, yet there is limited information related to how ADHD symptoms, autistic traits, and their combined effects are associated with nicotine, alcohol, and cannabis use and use disorders in the general population. Method: Cross-sectional interview and self-report questionnaire data from 3,080 young adult Australian twins (mean age 31.9 years) were used to assess ADHD symptoms, autistic traits, substance use, and substance use disorders. Substance use disorders based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, criteria were assessed in the full sample as well as in those who reported substance use. Logistic regression analyses were used for comparing the associations between ADHD symptoms, autistic traits, substance use, and substance misuse after conduct disorder, sex, age, and zygosity were controlled for. Results: Greater ADHD symptoms and autistic traits scores were associated with elevated levels of regular smoking; cannabis use; and nicotine, alcohol, and cannabis use disorders, even after conduct disorder was adjusted for. In contrast, for alcohol use, those with high autistic traits scores were less likely to report drinking to intoxication. However, upon initiation, and similar to the findings for nicotine and cannabis, they were at elevated risk for developing alcohol dependence. Conclusions: Increased liability to ADHD and elevated autistic traits scores were associated with substance use and misuse, with the exception of alcohol use. Given the social underpinnings of drinking, persons with autistic traits may be less likely to engage in it; however, upon engagement in drinking, their vulnerability to alcohol dependence is elevated. C1 [De Alwis, Duneesha; Agrawal, Arpana; Reiersen, Angela M.; Constantino, John N.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA. [Henders, Anjali; Martin, Nicholas G.] Queensland Inst Med Res, Brisbane, Qld 4006, Australia. [Lynskey, Michael T.] Kings Coll London, London WC2R 2LS, England. RP Agrawal, A (reprint author), Washington Univ, Sch Med, Dept Psychiat, Campus Box 8134,660 South Euclid Ave, St Louis, MO 63110 USA. EM agrawala@psychiatry.wustl.edu FU ABMRF/Foundation for Alcohol Research FX The authors thank Dixie Statham, Richard Parker, Soad Hancock, Judith Moir, Sally Rodda, Pieta-Maree Shertock, Heather Park, Jill Wood, Pam Barton, Fran Husband, and Adele Somerville, who worked on this project, and the twins and their siblings for participating. Arpana Agrawal has received peer-reviewed grant funds from ABMRF/Foundation for Alcohol Research. John N. Constantino receives royalties from Western Psychological Services for commercial distribution of the Social Responsiveness Scale. 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Alcohol Drugs PD MAR PY 2014 VL 75 IS 2 BP 211 EP 221 PG 11 WC Substance Abuse; Psychology SC Substance Abuse; Psychology GA AE0LL UT WOS:000333657700002 PM 24650814 ER PT J AU Whitaker-Azmitia, PM Lobel, M Moyer, A AF Whitaker-Azmitia, Patricia M. Lobel, Marci Moyer, Anne TI Low maternal progesterone may contribute to both obstetrical complications and autism SO MEDICAL HYPOTHESES LA English DT Article ID TRAUMATIC BRAIN-INJURY; PERINATAL RISK-FACTORS; SPECTRUM DISORDERS; INFANTILE-AUTISM; NEONATAL FACTORS; GENE-EXPRESSION; NEURODEVELOPMENTAL DISORDERS; SOCIOECONOMIC-STATUS; SYNAPTIC PLASTICITY; RECEPTOR EXPRESSION AB Studies show increased autism risk among children born to mothers experiencing obstetrical complications. Although this is usually interpreted as suggesting that the obstetrical complications could be causing autism, it is possible that a single factor could be responsible for both complications and autism. We hypothesized that low levels of the hormone progesterone is responsible since it is supplied to the fetus maternally and does not only support pregnancy but also promotes brain development. Following a review of the literature, we report findings from a survey of mothers of autistic children (n = 86) compared to mothers of typically-developing children (n = 88) regarding obstetrical histories, including five obstetrical risk factors indicative of low progesterone. Using this analysis, the ASD group had significantly more risk factors than controls (1.21 +/- 0.09 vs. 0.76 +/- 0.08, p <.0001), suggesting low progesterone. Thus, results suggest that low progesterone may be responsible for both obstetrical complications and brain changes associated with autism and that progesterone levels should be routinely monitored in at-risk pregnancies. Our hypothesis also suggests that ensuring adequate levels of progesterone may decrease the likelihood of autism. (C) 2014 Elsevier Ltd. All rights reserved. C1 [Whitaker-Azmitia, Patricia M.; Lobel, Marci; Moyer, Anne] SUNY Stony Brook, Dept Psychol, Stony Brook, NY 11794 USA. RP Whitaker-Azmitia, PM (reprint author), SUNY Stony Brook, Dept Psychol, Stony Brook, NY 11794 USA. EM patricia.whitaker@stonybrook.edu FU Center for Survey Research at Stony Brook University FX This research was supported through a seed Grant from the Center for Survey Research at Stony Brook University. The authors are grateful for the assistance of the Center's Director, Dr. Leonie Huddy. 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Hypotheses PD MAR PY 2014 VL 82 IS 3 BP 313 EP 318 DI 10.1016/j.mehy.2013.12.018 PG 6 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA AD8CM UT WOS:000333494100014 PM 24485701 ER PT J AU Rose, S Frye, RE Slattery, J Wynne, R Tippett, M Pavliv, O Melnyk, S James, SJ AF Rose, Shannon Frye, Richard E. Slattery, John Wynne, Rebecca Tippett, Marie Pavliv, Oleksandra Melnyk, Stepan James, S. Jill TI OXIDATIVE STRESS INDUCES MITOCHONDRIAL DYSFUNCTION IN A SUBSET OF AUTISM LYMPHOBLASTOID CELL LINES IN A WELL-MATCHED CASE CONTROL COHORT SO MOLECULAR GENETICS AND METABOLISM LA English DT Meeting Abstract CT Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) CY MAR 09-12, 2014 CL Pacific Grove, CA SP Soc Inherited Metab Disorders C1 [Rose, Shannon; Frye, Richard E.; Slattery, John; Wynne, Rebecca; Tippett, Marie; Pavliv, Oleksandra; Melnyk, Stepan; James, S. Jill] Arkansas Childrens Hosp, Dept Pediat, Res Inst, Little Rock, AR 72202 USA. NR 0 TC 0 Z9 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1096-7192 EI 1096-7206 J9 MOL GENET METAB JI Mol. Genet. Metab. PD MAR PY 2014 VL 111 IS 3 BP 233 EP 233 PG 1 WC Biochemistry & Molecular Biology; Genetics & Heredity; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Genetics & Heredity; Research & Experimental Medicine GA AC4OI UT WOS:000332500200025 ER PT J AU Longo, N Price, LB Gappmaier, E Cantor, NL Ernst, SL Bailey, C Pasquali, M AF Longo, Nicola Price, Leisa B. Gappmaier, Eduard Cantor, Nancy L. Ernst, Sharon L. Bailey, Carrie Pasquali, Marzia TI OXIDATIVE STRESS INDUCES MITOCHONDRIAL DYSFUNCTION IN A SUBSET OF AUTISM LYMPHOBLASTOID CELL LINES IN A WELL-MATCHED CASE CONTROL COHORT SO MOLECULAR GENETICS AND METABOLISM LA English DT Meeting Abstract CT Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) CY MAR 09-12, 2014 CL Pacific Grove, CA SP Soc Inherited Metab Disorders C1 Univ Utah, Div Med Genet, Dept Pediat Pathol & Phys Therapy, Salt Lake City, UT USA. Primary Childrens Med Ctr, Salt Lake City, UT USA. NR 0 TC 0 Z9 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1096-7192 EI 1096-7206 J9 MOL GENET METAB JI Mol. Genet. Metab. PD MAR PY 2014 VL 111 IS 3 BP 269 EP 269 PG 1 WC Biochemistry & Molecular Biology; Genetics & Heredity; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Genetics & Heredity; Research & Experimental Medicine GA AC4OI UT WOS:000332500200089 ER PT J AU Frye, RE Kahler, SG Slattery, J Rose, S James, J AF Frye, Richard E. Kahler, Stephen G. Slattery, John Rose, Shannon James, Jill TI TREATABLE METABOLIC DISORDERS ASSOCIATED WITH AUTISM SPECTRUM DISORDER SO MOLECULAR GENETICS AND METABOLISM LA English DT Meeting Abstract CT Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) CY MAR 09-12, 2014 CL Pacific Grove, CA SP Soc Inherited Metab Disorders C1 [Frye, Richard E.; Kahler, Stephen G.; Slattery, John; Rose, Shannon; James, Jill] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA. [Frye, Richard E.; Slattery, John; Rose, Shannon; James, Jill] Arkansas Childrens Hosp Res Inst, Little Rock, AR USA. NR 0 TC 0 Z9 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1096-7192 EI 1096-7206 J9 MOL GENET METAB JI Mol. Genet. Metab. PD MAR PY 2014 VL 111 IS 3 BP 287 EP 287 PG 1 WC Biochemistry & Molecular Biology; Genetics & Heredity; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Genetics & Heredity; Research & Experimental Medicine GA AC4OI UT WOS:000332500200123 ER PT J AU Hodgetts, S McConnell, D Zwaigenbaum, L Nicholas, D AF Hodgetts, Sandra McConnell, David Zwaigenbaum, Lonnie Nicholas, David TI The Impact of Autism Services on Mothers' Occupational Balance and Participation SO OTJR-OCCUPATION PARTICIPATION AND HEALTH LA English DT Article DE mixed methods; employment; leisure ID TIME USE; SPECTRUM DISORDERS; LIFE BALANCE; CHILDREN; DISABILITIES; PARENTS; CARE AB This mixed-methods study examined the impact of professional services on employment and leisure participation of mothers of children with autism. In Phase 1, 139 mothers with a child with autism completed a comprehensive survey addressing their experiences with services and occupational participation. In Phase 2, in-depth interviews, informed by grounded theory methodology, were conducted with a sub-sample of 19 mothers to discuss their experiences with services and the relationship between services, employment, and leisure participation. Findings revealed that discontinuity of services was a significant predictor of disrupted employment and/or leisure. A process of occupational imbalance and sacrifice emerged related to mothers' foregoing participation in personally meaningful occupations to focus time on navigating and participating in professional services for their child. Our findings suggest that many professionals who work with individuals with autism conceptually value family-centered care; yet, actual services often ignore family issues and focus exclusively on the child. C1 [Hodgetts, Sandra; McConnell, David] Univ Alberta, Fac Rehabil Med, Dept Occupat Therapy, Edmonton, AB T6G 2G4, Canada. [Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB T6G 2G4, Canada. [Zwaigenbaum, Lonnie] Glenrose Rehabil Hosp, Autism Res Ctr, Edmonton, AB, Canada. [Nicholas, David] Univ Calgary, Fac Social Work, Edmonton Div, Edmonton, AB, Canada. RP Hodgetts, S (reprint author), Univ Alberta, Fac Rehabil Med, Dept Occupat Therapy, 8205 114 St,2-64 Corbett Hall, Edmonton, AB T6G 2G4, Canada. EM sandra.hodgetts@ualberta.ca CR Adair C. E., 2001, CONTINUITY MEN UNPUB Baker DL, 2010, SOC SCI J, V47, P578, DOI 10.1016/j.soscij.2010.01.013 Barrett K., 2014, WILLARD SPACKMANS OC, P163 Bourke-Taylor H, 2010, AUST OCCUP THER J, V57, P127, DOI 10.1111/j.1440-1630.2009.00817.x Craig L, 2008, FEM ECON, V14, P59, DOI 10.1080/13545700701880999 Creswell J. 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J., 1987, STAT ANAL MISSING DA Matuska K, 2012, OTJR-OCCUP PART HEAL, V32, P220, DOI 10.3928/15394492-20110610-01 Matuska K, 2012, OTJR-OCCUP PART HEAL, V32, P229, DOI 10.3928/15394492-20110610-02 McCann D, 2012, J CHILD HEALTH CARE, V16, P26, DOI 10.1177/1367493511420186 McGuire BK, 2004, OTJR-OCCUP PART HEAL, V24, P54 Remple G., 2010, CARDIOL YOUNG, V18, P288, DOI [10.1017/S1047951108002114, DOI 10.1017/S1047951108002114] Rizk S, 2011, OTJR-OCCUP PART HEAL, V31, P164, DOI 10.3928/15394492-20110415-01 Schreiber JB, 2006, J EDUC RES, V99, P323, DOI 10.3200/JOER.99.6.323-338 Stein L. I., 2011, J OCCUPATIONAL SCI, V18, P115 Strauss A., 1998, BASICS QUALITATIVE R Tunali B, 2002, J AUTISM DEV DISORD, V32, P25, DOI 10.1023/A:1017999906420 VanLeit B, 2002, AM J OCCUP THER, V56, P402 Wilcock A. A., 2006, OCCUPATIONAL PERSPEC Woodside JM, 2001, CHILD HEALTH CARE, V30, P237, DOI 10.1207/S15326888CHC3003_5 NR 30 TC 0 Z9 0 PU SLACK INC PI THOROFARE PA 6900 GROVE RD, THOROFARE, NJ 08086 USA SN 1539-4492 EI 1938-2383 J9 OTJR-OCCUP PART HEAL JI OTJR-Occup. Particip. Health PD SPR PY 2014 VL 34 IS 2 BP 81 EP 92 DI 10.3928/15394492-20130109-01 PG 12 WC Rehabilitation SC Rehabilitation GA AE1LC UT WOS:000333729800004 PM 24651599 ER PT J AU Lin, HY Lee, P Chang, WD Hong, FY AF Lin, Hung-Yu Lee, Posen Chang, Wen-Dien Hong, Fu-Yuan TI Effects of Weighted Vests on Attention, Impulse Control, and On-Task Behavior in Children With Attention Deficit Hyperactivity Disorder SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE arousal; attention; attention deficit disorder with hyperactivity; impulsive behavior; sensation ID CONTINUOUS PERFORMANCE-TEST; COGNITIVE-ENERGETIC MODEL; DEFICIT/HYPERACTIVITY DISORDER; SUSTAINED ATTENTION; ADHD; ELECTROENCEPHALOGRAM; HETEROGENEITY; DIFFICULTIES; AUTISM AB OBJECTIVE. In this study, we examined the effectiveness of using weighted vests for improving attention, impulse control, and on-task behavior in children with attention deficit hyperactivity disorder (ADHD). METHOD. In a randomized, two-period crossover design, 110 children with ADHD were measured using the Conners' Continuous Performance Test-II (CPT-II) task. RESULTS. In the weighted vest condition, the participants did show significant improvement in all three attentional variables of the CPT-II task, including inattention; speed of processing and responding; consistency of executive management; and three of four on-task behaviors, including off task, out of seat, and fidgets. No significant improvements in impulse control and automatic vocalizations were found. CONCLUSION. Although wearing a weighted vest is not a cure-all strategy, our findings support the use of the weighted vest to remedy attentional and on-task behavioral problems of children with ADHD. C1 [Lin, Hung-Yu; Lee, Posen] I Shou Univ, Dept Occupat Therapy, Kaohsiung 824, Taiwan. [Chang, Wen-Dien] China Med Univ, Dept Sports Med, Taichung, Taiwan. [Hong, Fu-Yuan] Taipei Coll Maritime Technol, Ctr Gen Educ, Taipei, Taiwan. 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W., 1984, SINGLE SUBJECT RES S Teicher MH, 2012, BMC PSYCHIATRY, V12, DOI 10.1186/1471-244X-12-190 VandenBerg NL, 2001, AM J OCCUP THER, V55, P621 Wahlstedt C, 2009, J ABNORM CHILD PSYCH, V37, P551, DOI 10.1007/s10802-008-9286-9 WOODS JR, 1989, ANN INTERN MED, V110, P560 Zentall SS, 2011, J EDUC RES, V104, P28, DOI 10.1080/00220670903567356 Zhang C, 2011, BRAIN RES, V1368, P108, DOI 10.1016/j.brainres.2010.10.086 NR 43 TC 2 Z9 2 PU AMER OCCUPATIONAL THERAPY ASSOC, INC PI BETHESDA PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA SN 0272-9490 EI 1943-7676 J9 AM J OCCUP THER JI Am. J. Occup. Ther. PD MAR-APR PY 2014 VL 68 IS 2 BP 149 EP 158 DI 10.5014/ajot.2014.009365 PG 10 WC Rehabilitation SC Rehabilitation GA AD6OH UT WOS:000333380000005 PM 24581401 ER PT J AU Little, LM Sideris, J Ausderau, K Baranek, GT AF Little, Lauren M. Sideris, John Ausderau, Karla Baranek, Grace T. TI Activity Participation Among Children With Autism Spectrum Disorder SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article DE child development disorders, pervasive; family characteristics; human activities; social participation ID EXPLORATORY FACTOR-ANALYSIS; PHYSICAL-DISABILITIES; DIAGNOSTIC INTERVIEW; LEISURE ACTIVITIES; LIFE; OCCUPATIONS; VALIDATION; PATTERNS; FAMILIES; ROUTINES AB OBJECTIVE. The purpose of this study was to empirically derive dimensions of activity participation among a sample of school-age children with autism spectrum disorder (ASD; n = 713). Additionally, we examined the associations between dimensions of activity participation and child characteristics (i.e., chronological age, autism severity, gender) and family demographics (i.e., maternal education). METHOD. Exploratory factor analysis was used to determine the factors on the Home and Community Activities Scale (HCAS). Multiple regression was used to examine the extent to which child characteristics and family demographics were related to HCAS dimensions. RESULTS. A six-factor model best characterized activity participation among the school-age children with ASD, and child characteristics and family demographics were differentially associated with HCAS dimensions. CONCLUSION. The findings have implications for how activities may be categorized for children with ASD and suggest that the frequency of specific activities is affected by child characteristics and maternal education. C1 [Little, Lauren M.] Univ Kansas, Med Ctr, Dept Occupat Therapy Educ, Kansas City, KS 66160 USA. [Little, Lauren M.; Baranek, Grace T.] Univ N Carolina, Dept Allied Hlth Sci, Div Occupat Sci & Occupat Therapy, Chapel Hill, NC USA. [Sideris, John] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA. [Ausderau, Karla] Univ Wisconsin Madison, Dept Kinesiol, Occupat Therapy Program, Madison, WI 53706 USA. RP Little, LM (reprint author), Univ Kansas, Med Ctr, Dept Occupat Therapy Educ, 3901 Rainbow Blvd,MS2003, Kansas City, KS 66160 USA. 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PD MAR-APR PY 2014 VL 68 IS 2 BP 177 EP 185 DI 10.5014/ajot.2014.009894 PG 9 WC Rehabilitation SC Rehabilitation GA AD6OH UT WOS:000333380000008 PM 24581404 ER PT J AU Lin, CW Hsueh, YP AF Lin, Chia-Wen Hsueh, Yi-Ping TI Sarm1, a neuronal inflammatory regulator, controls social interaction, associative memory and cognitive flexibility in mice SO BRAIN BEHAVIOR AND IMMUNITY LA English DT Article DE Neurodevelopmental disorders; Cytokine; Cognitive flexibility; Social interaction; Associative memory ID MATERNAL IMMUNE ACTIVATION; TOLL-LIKE RECEPTOR-3; ADULT HIPPOCAMPAL NEUROGENESIS; NEGATIVE REGULATOR; PHARMACOLOGICAL CHANGES; PRENATAL EXPOSURE; BRAIN-DEVELOPMENT; MOUSE MODEL; AUTISM; SCHIZOPHRENIA AB Impaired neurodevelopment leads to several psychiatric disorders, including autism, schizophrenia and attention deficiency hyperactivity disorder. Our prior study showed that sterile alpha and TIR motif-containing 1 protein (Sarm1) regulates neuronal morphogenesis through at least two pathways. Sarm1 controls neuronal morphogenesis, including dendritic arborization, axonal outgrowth and establishment of neuronal polarity, through the MKK-JNK pathway. Neuronally expressed Sarm1 also regulates the expression of inflammatory cytokines in the brain, which have also been shown to impact brain development and function. Because the reduction of Sarm1 expression negatively influences neuronal development, here we investigated whether Sarm1 controls mouse behaviors. We analyzed two independent Sarm1 transgenic mouse lines using a series of behavioral assays, and found that the reduction of Sarm1 protein levels had a limited effect on locomotion and anxiety. However, Sarm1 knockdown mice exhibited impairments in cued and contextual fear conditioning as well as cognitive flexibility. Moreover, the three-chambered social test, reciprocal social interaction and social transmission of food preference further illustrated deficiencies in Sarm1 knockdown mice in social interaction. These findings suggest that Sarm1, a molecule that regulates innate immunity and neuronal morphogenesis, regulates social behaviors and cognition. We conclude that Sarm1 is involved in immune response, neural development and psychiatric disorders. (C) 2013 Elsevier Inc. All rights reserved. C1 [Lin, Chia-Wen; Hsueh, Yi-Ping] Acad Sinica, Inst Mol Biol, Taipei 11529, Taiwan. RP Hsueh, YP (reprint author), Acad Sinica, Inst Mol Biol, 128,Sec 2,Acad Rd, Taipei 11529, Taiwan. EM yph@gate.sinica.edu.tw FU Academia Sinica; National Science Council [NSC 99-2321-B-001-032, 100-2321-B-001-022, 101-2321-B-001-010, 102-2321-B-001-029, 102-2321-B-001-054] FX We thank Dr. Tzyy-Nan Huang for technical assistance and Ms. Miranda Loney for English editing. This work was supported by Grants from Academia Sinica (to Y.-P.H.) and the National Science Council (NSC 99-2321-B-001-032, 100-2321-B-001-022, 101-2321-B-001-010, 102-2321-B-001-029 and 102-2321-B-001-054 to Y.-P.H.). 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PD MAR PY 2014 VL 37 BP 142 EP 151 DI 10.1016/j.bbi.2013.12.002 PG 10 WC Immunology; Neurosciences SC Immunology; Neurosciences & Neurology GA AD2MY UT WOS:000333071000017 PM 24321214 ER PT J AU Babri, S Doosti, MH Salari, AA AF Babri, Shirin Doosti, Mohammad-Hossein Salari, Ali-Akbar TI Strain-dependent effects of prenatal maternal immune activation on anxiety- and depression-like behaviors in offspring SO BRAIN BEHAVIOR AND IMMUNITY LA English DT Article DE Prenatal maternal infection; Prenatal stress; Lipopolysaccharide; Poly I:C; Strain difference; Schizophrenia; Autism; Anxiety; Depression; HPA axis ID PITUITARY-ADRENAL AXIS; 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-2; AUTISM SPECTRUM DISORDERS; RECEPTOR GENE-EXPRESSION; QUALITY-OF-LIFE; FETAL-RAT BRAIN; GLUCOCORTICOID-RECEPTOR; INCREASES ANXIETY; AMNIOTIC-FLUID; MINERALOCORTICOID RECEPTOR AB There is converging evidence that prenatal maternal infection can increase the risk of occurrence of neuropsychiatric disorders like schizophrenia, autism, anxiety and depression in later life. Experimental studies have shown conflicting effects of prenatal maternal immune activation on anxiety-like behavior and hypothalamic-pituitary-adrenal (HPA) axis development in offspring. We investigated the effects of maternal immune activation during pregnancy on anxiety- and depression-like behaviors in pregnant mice and their offspring to determine whether these effects are dependent on strain. NMRI and C57BL/6 pregnant mice were treated with either saline or lipopolysaccharide on gestational day 17 and then interleukin (IL)-6 and corticosterone (CUR) levels; anxiety or depression in the pregnant mice and their offspring were evaluated. The results indicate that maternal inflammation increased the levels of CUR and anxiety-like behavior in NMRI pregnant mice, but not in C57BL/6 dams. Our data also demonstrate that maternal inflammation elevated the levels of anxiety-and depression-like behaviors in NMRI offspring on the elevated plus-maze, elevated zero-maze, tail suspension test and forced swimming test respectively, but not in the open field and light-dark box. In addition, we did not find any significant change in anxiety- and depression-like behaviors of adult C57BL/6 offspring. Our findings suggest that prenatal maternal immune activation can alter the HPA axis activity, anxiety- and depression-like behaviors in a strain- and task-dependent manner in offspring and further comprehensive studies are needed to prove the causal relationship between the findings found here and to validate their relevance to neuropsychiatric disorders in humans. (C) 2013 Elsevier Inc. All rights reserved. C1 [Babri, Shirin; Salari, Ali-Akbar] Tabriz Univ Med Sci, Drug Appl Res Ctr, Physiol Lab, Tabriz, Iran. [Doosti, Mohammad-Hossein; Salari, Ali-Akbar] Tabriz Univ Med Sci, Drug Appl Res Ctr, Immunol Lab, Tabriz, Iran. [Doosti, Mohammad-Hossein; Salari, Ali-Akbar] Tabriz Univ Med Sci, Immunol Res Ctr, Tabriz, Iran. [Salari, Ali-Akbar] Tabriz Univ Med Sci, Neurosci Res Ctr, Tabriz, Iran. RP Salari, AA (reprint author), Tabriz Univ Med Sci, Drug Appl Res Ctr, Physiol Lab, POB 51656-65811, Tabriz, Iran. EM aa.salari@yahoo.com FU Drug Applied Research Center at Tabriz University of Medical Sciences [GN-90-71] FX This study was supported by a grant from the Drug Applied Research Center at Tabriz University of Medical Sciences (GN-90-71). A very special thanks is extended to Mrs. Narges Farid for careful reading of the manuscript. 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Immun. PD MAR PY 2014 VL 37 BP 164 EP 176 DI 10.1016/j.bbi.2013.12.003 PG 13 WC Immunology; Neurosciences SC Immunology; Neurosciences & Neurology GA AD2MY UT WOS:000333071000019 PM 24326014 ER PT J AU de Theije, CGM Wopereis, H Ramadan, M van Eijndthoven, T Lambert, J Knol, J Garssen, J Kraneveld, AD Oozeer, R AF de Theije, Caroline G. M. Wopereis, Harm Ramadan, Mohamed van Eijndthoven, Tiemen Lambert, Jolanda Knol, Jan Garssen, Johan Kraneveld, Aletta D. Oozeer, Raish TI Altered gut microbiota and activity in a murine model of autism spectrum disorders SO BRAIN BEHAVIOR AND IMMUNITY LA English DT Article DE Autism spectrum disorders; Neurodevelopment; Prenatal; Valproate; Gut microbiota; Butyrate; Short chain fatty acids ID VALPROIC ACID; INTESTINAL MICROBIOTA; MATERNAL SEPARATION; HOST INTERACTIONS; PROPIONIC-ACID; ONSET AUTISM; CHILDREN; BRAIN; MICROFLORA; EXPOSURE AB Autism spectrum disorder (ASD) is a heterogeneous group of complex neurodevelopmental disorders with evidence of genetic predisposition. Intestinal disturbances are reported in ASD patients and compositional changes in gut microbiota are described. However, the role of microbiota in brain disorders is poorly documented. Here, we used a murine model of ASD to investigate the relation between gut microbiota and autism-like behaviour. Using next generation sequencing technology, microbiota composition was investigated in mice in utero exposed to valproic acid (VPA). Moreover, levels of short chain fatty acids (SCFA) and lactic acid in caeca] content were determined. Our data demonstrate a transgenerational impact of in utero VPA exposure on gut microbiota in the offspring. Prenatal VPA exposure affected operational taxonomic units (OTUs) assigned to genera within the main phyla of Bacteroidetes and Firmicutes and the order of Desulfovibrionales, corroborating human ASD studies. In addition, OTUs assigned to genera of Alistipes, Enterorhabdus, Mollicutes and Erysipelotrichalis were especially associated with male VPA-exposed offspring. The microbial differences of VPA in utero-exposed males deviated from those observed in females and was (i) positively associated with increased levels of caecal butyrate as well as ileal neutrophil infiltration and (ii) inversely associated with intestinal levels of serotonin and social behaviour scores. These findings show that autism-like behaviour and its intestinal phenotype is associated with altered microbial colonization and activity in a murine model for ASD, with preponderance in male offspring. These results open new avenues in the scientific trajectory of managing neurodevelopmental disorders by gut microbiome modulation. (C) 2013 Elsevier Inc. All rights reserved. C1 [Wopereis, Harm; Ramadan, Mohamed; van Eijndthoven, Tiemen; Lambert, Jolanda; Knol, Jan; Garssen, Johan; Oozeer, Raish] Nutricia Res, NL-3584 CT Utrecht, Netherlands. [de Theije, Caroline G. M.; Ramadan, Mohamed; Garssen, Johan; Kraneveld, Aletta D.] Univ Utrecht, Fac Sci, Div Pharmacol, Utrecht Inst Pharmaceut Sci, Utrecht, Netherlands. [Wopereis, Harm; Knol, Jan] Wageningen Univ, Microbiol Lab, NL-6700 AP Wageningen, Netherlands. RP Oozeer, R (reprint author), Nutricia Res, Uppsalalaan 12, NL-3584 CT Utrecht, Netherlands. EM raish.oozeer@danone.com RI Knol, Jan/A-2178-2010 FU Nutricia Research FX We would like to thank Amra Buco and Rob Slump for their technical support and contribution in the experiments described in this manuscript. This study is part of the Utrecht University 'Focus en Massa' program and financially supported by Nutricia Research. H. Wopereis, T. van Eijndthoven, J. Lambert, J. Knol, J. Garssen and R. Oozeer are employees of Nutricia Research and therefore declare potential conflicts of interest. All other authors report no biomedical financial interest or potential conflicts of interest. 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Mechiel Olivier, Berend Garssen, Johan Kranevel, Aletta D. TI Intestinal inflammation in a murine model of autism spectrum disorders SO BRAIN BEHAVIOR AND IMMUNITY LA English DT Article DE Autism spectrum disorders; Prenatal; Valproic acid; Neurodevelopment; Gut-brain axis; Serotonin; Intestinal tract ID TRANSPORTER KNOCKOUT RATS; VALPROIC ACID; SEROTONIN TRANSPORTER; TRYPTOPHAN DEPLETION; CELL-PROLIFERATION; PREFRONTAL CORTEX; PRENATAL EXPOSURE; RETARDED-CHILDREN; BRAIN-SEROTONIN; CYTOKINE LEVELS AB Autism spectrum disorder (ASD) is a cluster of neurodevelopmental disorders characterized by impairments in communication, social interest and stereotypical behaviour. Dysfunction of the intestinal tract is reported in patients with ASD and implicated in the development and severity of ASD symptoms. However, more research is required to investigate the association of intestinal problems with ASD and the potential underlying mechanisms. The purpose of this study was to investigate comorbid symptoms of intestinal inflammation in a murine model of ASD induced by prenatal exposure to valproic acid (VPA). Pregnant BALB/c females were treated subcutaneously with 600 mg/kg VPA or phosphate buffered saline on gestational day 11. Offspring were housed with their mother until weaning on postnatal day 21 (P21). All pups were exposed to a social behaviour test on P28. Inflammatory correlates and activity of the serotonergic system were measured in brain and intestinal tissue. Here we demonstrate, in addition to reduced social behaviour and increased expression of neuroinflammatory markers in the brain, that VPA in utero-exposed male offspring showed epithelial cell loss and neutrophil infiltration in the intestinal tract. Furthermore, reduced levels of serotonin were not only observed the prefrontal cortex and amygdala of VPA in utero-exposed males, but also in the small intestine. Overall, we demonstrate that gender-specific inflammatory conditions are present in the small intestines of VPA in utero-exposed mice and are accompanied by a disturbed serotonergic system in the brain as well as in the intestinal tract. (C) 2013 Elsevier Inc. All rights reserved. C1 [de Theije, Caroline G. M.; Koelink, Pim J.; Korte-Bouws, Gerdien A. H.; da Silva, Sofia Lopes; Korte, S. Mechiel; Olivier, Berend; Garssen, Johan; Kranevel, Aletta D.] Univ Utrecht, Fac Sci, Utrecht Inst Pharmaceut Sci, Div Pharmacol, NL-3584 CG Utrecht, Netherlands. [da Silva, Sofia Lopes; Garssen, Johan] Nutricia Res, NL-3584 CT Utrecht, Netherlands. RP de Theije, CGM (reprint author), Univ Utrecht, Fac Sci, Utrecht Inst Pharmaceut Sci, Div Pharmacol, Univ Weg 99, NL-3584 CG Utrecht, Netherlands. EM c.g.m.detheije@uu.nl FU Nutricia Research FX This study is part of the Utrecht University 'Focus en Massa' program and financially supported by Nutricia Research. Dr. S. Lopes da Silva is Senior Scientist of the Medical Platform and Prof. Dr. Johan Garssen is director of the Immunology Platform at Nutricia Research. They therefore declare potential conflicts of interest. All other authors report no biomedical financial interest or potential conflicts of interest. 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In fact, in clinical practice it is common to misinterpret catatonic symptoms, including mutism, stereotypic speech, repetitive behaviors, echolalia, posturing, mannerisms, purposeless agitation and rigidity, as features of ASDs. The current medical treatment algorithm for catatonia in ASDs recommends the use of benzodiazepines. Electroconvulsive therapy (ECT) is indicated when patients are unresponsive, or insufficiently responsive, to benzodiazepines. Other pharmacological options are also described for the treatment of catatonic patients resistant to benzodiazepines and ECT, and there is evidence for the effectiveness of a psychological treatment, co-occurring with medical treatments, in order to support the management of these patients. In this article we provide a summary of studies exploring catatonia in ASDs and our clinical experience in the management and treatment of this syndrome through the presentation of three brief case studies. 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Johnson, Patricia L. Storch, Eric A. TI Pediatric misophonia with comorbid obsessive-compulsive spectrum disorders SO GENERAL HOSPITAL PSYCHIATRY LA English DT Article DE Misophonia; Obsessive-Compulsive disorder; Pediatrics; Tourette's ID BASAL GANGLIA; SENSITIVITY; AUTISM AB Objective: Misophonia is a potentially debilitating condition characterized by increased sensitivity to specific sounds, which cause subsequent behavioral and emotional responses. The nature, clinical phenomenology and etiology of misophonia remain unclear, and misophonic clinical presentations are not currently accounted for by existing psychiatric or audiological disorders. Method: We present a case of pediatric misophonia in the context of comorbid obsessive-compulsive disorder and Tourette's syndrome. 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PD MAR PY 2014 VL 41 IS 2 BP 275 EP 304 DI 10.1017/S0305000912000682 PG 30 WC Psychology, Developmental; Linguistics; Psychology, Experimental SC Psychology; Linguistics GA AC4TM UT WOS:000332513800002 PM 23469804 ER PT J AU Wachtel, LE Reti, IM Ying, H AF Wachtel, Lee Elizabeth Reti, Irving Michael Ying, Howard TI Stability of Intraocular Pressure After Retinal Reattachment Surgery During Electroconvulsive Therapy for Intractable Self-Injury in a 12-Year-Old Autistic Boy SO JOURNAL OF ECT LA English DT Article DE SIB; autism; IOP; ECT; pediatric ID MENTAL-RETARDATION; PROBLEM BEHAVIORS; CATATONIA; ECT; PATIENT; GIRL; GLAUCOMA AB We present a 12-year-old autistic boy who underwent electroconvulsive therapy (ECT) for intractable self-injury toward his head and eyes in the context of acute bilateral retinal detachment and reparative surgery. The patient received 3 ECTs before retinal reattachment surgery, and resumed ECT 2 weeks postoperatively. Bilateral intraocular pressures were monitored before and after the first 7 ECTs and intermittently after ECT for 10 months of maintenance ECT. There was no evidence of sustained intraocular pressure elevation or instability. This report supports the safety of ECT for repetitive self-injury in youth before and after emergent ophthalmologic surgery for trauma-related injury. C1 [Wachtel, Lee Elizabeth] Johns Hopkins Sch Med, Kennedy Krieger Inst, Baltimore, MD USA. [Reti, Irving Michael; Ying, Howard] Johns Hopkins Sch Med, Baltimore, MD USA. RP Wachtel, LE (reprint author), Kennedy Krieger Inst, 707 N Broadway St, Baltimore, MD 21205 USA. 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ECT PD MAR PY 2014 VL 30 IS 1 BP 73 EP 76 DI 10.1097/YCT.0b013e31829b2d61 PG 4 WC Behavioral Sciences; Psychiatry SC Behavioral Sciences; Psychiatry GA AC2DJ UT WOS:000332307600020 PM 23812023 ER PT J AU Jayachandran, R Liu, XL BoseDasgupta, S Muller, P Zhang, CL Moshous, D Studer, V Schneider, J Genoud, C Fossoud, C Gambino, F Khelfaoui, M Muller, C Bartholdi, D Rossez, H Stiess, M Houbaert, X Jaussi, R Frey, D Kammerer, RA Deupi, X de Villartay, JP Luthi, A Humeau, Y Pieters, J AF Jayachandran, Rajesh Liu, Xiaolong BoseDasgupta, Somdeb Mueller, Philipp Zhang, Chun-Lei Moshous, Despina Studer, Vera Schneider, Jacques Genoud, Christel Fossoud, Catherine Gambino, Frederic Khelfaoui, Malik Mueller, Christian Bartholdi, Deborah Rossez, Helene Stiess, Michael Houbaert, Xander Jaussi, Rolf Frey, Daniel Kammerer, Richard A. Deupi, Xavier de Villartay, Jean-Pierre Luethi, Andreas Humeau, Yann Pieters, Jean TI Coronin 1 Regulates Cognition and Behavior through Modulation of cAMP/Protein Kinase A Signaling SO PLOS BIOLOGY LA English DT Article ID AUTISM SPECTRUM DISORDERS; LONG-TERM POTENTIATION; SEVERE COMBINED IMMUNODEFICIENCY; HETEROTRIMERIC G-PROTEIN; CYCLIC-AMP ACCUMULATION; ADENYLYL-CYCLASE; SUBUNIT DISSOCIATION; CRYSTAL-STRUCTURE; SYNAPTIC FUNCTION; IMMUNE-RESPONSES AB Cognitive and behavioral disorders are thought to be a result of neuronal dysfunction, but the underlying molecular defects remain largely unknown. An important signaling pathway involved in the regulation of neuronal function is the cyclic AMP/Protein kinase A pathway. We here show an essential role for coronin 1, which is encoded in a genomic region associated with neurobehavioral dysfunction, in the modulation of cyclic AMP/PKA signaling. We found that coronin 1 is specifically expressed in excitatory but not inhibitory neurons and that coronin 1 deficiency results in loss of excitatory synapses and severe neurobehavioral disabilities, including reduced anxiety, social deficits, increased aggression, and learning defects. Electrophysiological analysis of excitatory synaptic transmission in amygdala revealed that coronin 1 was essential for cyclic-AMP-protein kinase A-dependent presynaptic plasticity. We further show that upon cell surface stimulation, coronin 1 interacted with the G protein subtype Gs to stimulate the cAMP/PKA pathway. The absence of coronin 1 or expression of coronin 1 mutants unable to interact with Gs resulted in a marked reduction in cAMP signaling. Strikingly, synaptic plasticity and behavioral defects of coronin 1-deficient mice were restored by in vivo infusion of a membrane-permeable cAMP analogue. Together these results identify coronin 1 as being important for cognition and behavior through its activity in promoting cAMP/PKA-dependent synaptic plasticity and may open novel avenues for the dissection of signal transduction pathways involved in neurobehavioral processes. Author Summary Memory and behavior depend on the proper transduction of signals in the brain, but the underlying molecular mechanisms remain largely unknown. Coronin 1 is a member of a highly conserved family of proteins, and although its gene lies in a chromosome region associated with neurobehavioral dysfunction in mice and men, it has never been directly ascribed a specific function in the brain. Here we show that coronin 1 plays an important role in cognition and behavior by regulating the cyclic AMP (cAMP) signaling pathway. We find that when cell surface receptors are activated, coronin 1 stimulates cAMP production and activation of protein kinase A. Coronin 1 deficiency resulted in severe functional defects at excitatory synapses. Furthermore, in both mice and humans, deletion or mutation of coronin 1 causes severe neurobehavioral defects, including social deficits, increased aggression, and learning disabilities. Strikingly, treatment with a membrane-permeable analogue of cAMP restored synaptic plasticity and behavioral defects in mice lacking coronin 1. Together this work not only shows a critical role for coronin 1 in neurobehavior but also defines a role for the coronin family in regulating the transmission of signals within cells. C1 [Jayachandran, Rajesh; Liu, Xiaolong; BoseDasgupta, Somdeb; Mueller, Philipp; Studer, Vera; Rossez, Helene; Stiess, Michael; Pieters, Jean] Univ Basel, Biozentrum, Basel, Switzerland. [Zhang, Chun-Lei; Gambino, Frederic; Khelfaoui, Malik; Houbaert, Xander; Humeau, Yann] Interdisciplinary Inst Neurosci, Bordeaux, France. [Moshous, Despina; de Villartay, Jean-Pierre] Hop Necker Enfants Malad, Paris, France. [Schneider, Jacques] Univ Children Hosp, Dept Radiol, UKBB, Basel, Switzerland. [Genoud, Christel] Univ Basel, Ctr Cellular Imaging & NanoAnalyt, Basel, Switzerland. [Fossoud, Catherine] CHU Nice, F-06202 Nice, France. [Genoud, Christel; Mueller, Christian; Luethi, Andreas] Friedrich Miescher Inst, CH-4002 Basel, Switzerland. [Bartholdi, Deborah] Univ Basel Hosp, CH-4031 Basel, Switzerland. [Jaussi, Rolf; Frey, Daniel; Kammerer, Richard A.; Deupi, Xavier] Paul Scherrer Inst, Biomol Res Lab, Villigen, Switzerland. [Deupi, Xavier] Paul Scherrer Inst, Villigen, Switzerland. RP Jayachandran, R (reprint author), Univ Basel, Biozentrum, Basel, Switzerland. EM yann.humeau@u-bordeaux.fr; jean.pieters@unibas.ch RI Deupi, Xavier/B-2424-2009 OI Deupi, Xavier/0000-0003-4572-9316 FU Swiss National Science Foundation; Canton of Basel; Optimus Foundation; ETH Zurich; Agence Nationale pour la Recherche; Novartis Research Foundation; HFSP Fellowship; EMBO Long Term Fellowship; Cloetta Medical Fellowship; Robert A. Good/Jeffrey Modell Fellowship in Transplantation and Immunodeficiency FX This work was supported by the Swiss National Science Foundation, the Canton of Basel, the Optimus Foundation, the ETH Zurich within the framework of the National Center for Competence in Research in Structural Biology Program, the Agence Nationale pour la Recherche, and the Novartis Research Foundation. Michael Stiess is a recipient of an HFSP Fellowship, Michael Stiess and Somdeb BoseDasgupta are recipients of an EMBO Long Term Fellowship, Rajesh Jayachandran is a recipient of a Cloetta Medical Fellowship, and Despina Moshous received a Robert A. Good/Jeffrey Modell Fellowship in Transplantation and Immunodeficiency. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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SO BRAIN & DEVELOPMENT LA English DT Review DE Epilepsy; Autism spectrum disorders; ADHD; Comorbidity; Genetics; CNVs; Tuberous sclerosis; Fragile X syndrome ID FRAGILE-X-SYNDROME; TUBEROUS SCLEROSIS COMPLEX; COPY NUMBER VARIATIONS; COMPARATIVE-GENOMIC-HYBRIDIZATION; IDIOPATHIC GENERALIZED EPILEPSY; SEVERE DEVELOPMENTAL DELAY; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; GABAERGIC INTERNEURONS; MENTAL-RETARDATION AB Autism Spectrum Disorders (ASDs) and Attention Deficit and Hyperactivity Disorder (ADHD) are the most common comorbid conditions associated with childhood epilepsy. The co-occurrence of an epilepsy/autism phenotype or an epilepsy/ADHD phenotype has a complex and heterogeneous pathogenesis, resulting from several altered neurobiological mechanisms involved in early brain development, and influencing synaptic plasticity, neurotransmission and functional connectivity. Rare clinically relevant chromosomal aberrations, in addition to environmental factors, may confer an increased risk for ASDs/ADHD comorbid with epilepsy. The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNT-NAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5). Two genetic disorders, such as Tuberous sclerosis and Fragile X syndrome may serve as models for understanding the common pathogenic pathways leading to ASDs and ADHD comorbidities in children with epilepsy, offering the potential for new biologically focused treatment options. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Lo-Castro, Adriana; Curatolo, Paolo] Univ Roma Tor Vergata, Dept Neurosci, Child Neurol & Psychiat Unit, I-00133 Rome, Italy. RP Lo-Castro, A (reprint author), Univ Roma Tor Vergata, Dept Neurosci, Child Neurol & Psychiat Unit, Via Montpellier 1, I-00133 Rome, Italy. 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PD MAR PY 2014 VL 36 IS 3 BP 185 EP 193 DI 10.1016/j.braindev.2013.04.013 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA AD0JN UT WOS:000332920400001 PM 23726375 ER PT J AU Ohya, T Morita, K Yamashita, Y Egami, C Ishii, Y Nagamitsu, S Matsuishi, T AF Ohya, Takashi Morita, Kiichiro Yamashita, Yushiro Egami, Chiyomi Ishii, Youhei Nagamitsu, Shinichiro Matsuishi, Toyojiro TI Impaired exploratory eye movements in children with Asperger's syndrome SO BRAIN & DEVELOPMENT LA English DT Article DE Asperger's syndrome; Eye-tracking technology; Exploratory eye movements; Responsive search score; Social interactions ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; SCHIZOPHRENIA; INDIVIDUALS AB Objective: Previous eye-tracking studies using an eye mark recorder have reported that disturbances in exploratory eye movements in adult schizophrenic patients are associated with social functioning. The current study sought to determine whether exploratory eye-movement disturbances are present in children with Asperger's syndrome (AS) compared with typically developing (TD) children. Materials/Participants: The participants were 23 children with AS and 23 age-matched TD children. We measured exploratory eye movements using an EMR-8B eye mark recorder and an exploratory eye movement-measuring device. Method: Eye movements were recorded while participants freely observed a geometric figure (free viewing task), and while they complied with the instructions of an experimenter (repeat-comparison task). We assessed eye fixation points (EFPs) and total eye scanning length (TESL) in all tasks, and measured the responsive search score (RSS) in the repeat-comparison task. Results: In the free viewing task, children with AS exhibited significantly shorter TESL compared with TD children. In the repeat-comparison task, children with AS exhibited significantly lower RSS. Autism Spectrum Screening Questionnaire scores were negatively correlated with both EFP and TESL, but not RSS. Conclusion: The current results revealed that children with AS exhibited dysfunction in exploratory eye movements. Thus, assessing exploratory eye movements in a repeat-comparison task may be useful for detecting social impairment among children with AS. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Ohya, Takashi; Yamashita, Yushiro; Nagamitsu, Shinichiro; Matsuishi, Toyojiro] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan. [Morita, Kiichiro; Yamashita, Yushiro; Ishii, Youhei; Matsuishi, Toyojiro] Kurume Univ, Sch Med, Dept Psychiat, Cognit & Mol Res Inst Brain Dis, Kurume, Fukuoka 8300011, Japan. [Egami, Chiyomi] Fukuoka Prefectural Univ, Fac Nursing, Fukuoka, Japan. RP Yamashita, Y (reprint author), Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan. 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PD MAR PY 2014 VL 68 IS 1 BP 38 EP 45 DI 10.1037/cep0000003 PG 8 WC Psychology, Experimental SC Psychology GA AC7QK UT WOS:000332725600006 PM 24219247 ER PT J AU Jeon, SJ Kim, JW Kim, KC Han, SM Go, HS Seo, JE Choi, CS Ryu, JH Shin, CY Song, MR AF Jeon, Se Jin Kim, Ji-Woon Kim, Ki Chan Han, So Min Go, Hyo Sang Seo, Jung Eun Choi, Chang Soon Ryu, Jong Hoon Shin, Chan Young Song, Mi-Ryoung TI Translational Regulation of NeuroD1 Expression by FMRP: Involvement in Glutamatergic Neuronal Differentiation of Cultured Rat Primary Neural Progenitor Cells SO CELLULAR AND MOLECULAR NEUROBIOLOGY LA English DT Article DE FMRP; NeuroD1; Neural progenitor cell; Neuronal differentiation ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; GABA(A) RECEPTOR; VALPROIC ACID; MOUSE MODEL; MESSENGER-RNA; DNA DEMETHYLATION; AUTISM; NEOCORTEX; MICE AB Fragile X mental retardation protein (FMRP) is encoded by Fmr1 gene in which mutation is known to cause fragile X syndrome characterized by mental impairment and other psychiatric symptoms similar to autism spectrum disorders. FMRP plays important roles in cellular mRNA biology such as transport, stability, and translation as an RNA-binding protein. In the present study, we identified potential role of FMRP in the neural differentiation, using cortical neural progenitor cells from Sprague-Dawley rat. We newly found NeuroD1, an essential regulator of glutamatergic neuronal differentiation, as a new mRNA target interacting with FMRP in co-immunoprecipitation experiments. We also identified FMRP as a regulator of neuronal differentiation by modulating NeuroD1 expression. Down-regulation of FMRP by siRNA also increased NeuroD1 expression along with increased pre- and post-synaptic development of glutamatergic neuron, as evidenced by Western blot and immunocytochemistry. On the contrary, cells harboring FMRP over-expression construct showed decreased NeuroD1 expression. Treatment of cultured neural precursor cells with a histone deacetylase inhibitor, valproic acid known as an inducer of hyper-glutamatergic neuronal differentiation, down-regulated the expression of FMRP, and induced NeuroD1 expression. Our study suggests that modulation of FMRP expression regulates neuronal differentiation by interaction with its binding target mRNA, and provides an example of the gene and environmental interaction regulating glutamatergic neuronal differentiation. C1 [Jeon, Se Jin; Kim, Ji-Woon; Kim, Ki Chan; Han, So Min; Go, Hyo Sang; Seo, Jung Eun; Choi, Chang Soon; Shin, Chan Young] Konkuk Univ, Sch Med, Seoul 143701, South Korea. [Jeon, Se Jin; Kim, Ji-Woon; Kim, Ki Chan; Han, So Min; Go, Hyo Sang; Seo, Jung Eun; Choi, Chang Soon; Shin, Chan Young] Konkuk Univ, Neurosci Res Ctr, Inst SMART IABS, Seoul 143701, South Korea. [Ryu, Jong Hoon] Kyung Hee Univ, Dept Oriental Pharmaceut Sci, Coll Pharm, Seoul 130701, South Korea. [Song, Mi-Ryoung] Gwangju Inst Sci & Technol, Sch Life Sci, Bioimaging Res Ctr, Kwangju 500712, South Korea. [Song, Mi-Ryoung] Gwangju Inst Sci & Technol, Cell Dynam Res Ctr, Kwangju 500712, South Korea. RP Shin, CY (reprint author), Konkuk Univ, Sch Med, 1 Hwayang Dong, Seoul 143701, South Korea. EM chanyshin@kku.ac.kr; msong@gist.ac.kr FU National Research Foundation of Korea (NRF); Korea government (MEST) [2012K2A1A2032549]; Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea [A120029] FX This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MEST) (2012K2A1A2032549) and a research grant from Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea (No. A120029). 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Mol. Neurobiol. PD MAR PY 2014 VL 34 IS 2 BP 297 EP 305 DI 10.1007/s10571-013-0014-9 PG 9 WC Cell Biology; Neurosciences SC Cell Biology; Neurosciences & Neurology GA AD0UE UT WOS:000332948800015 PM 24338128 ER PT J AU Conant, KD Finucane, B Cleary, N Martin, A Muss, C Delany, M Murphy, EK Rabe, O Luchsinger, K Spence, SJ Schanen, C Devinsky, O Cook, EH LaSalle, J Reiter, LT Thibert, RL AF Conant, Kerry D. Finucane, Brenda Cleary, Nicole Martin, Ashley Muss, Candace Delany, Mary Murphy, Erin K. Rabe, Olivia Luchsinger, Kadi Spence, Sarah J. Schanen, Carolyn Devinsky, Orrin Cook, Edwin H. LaSalle, Janine Reiter, Lawrence T. Thibert, Ronald L. TI A survey of seizures and current treatments in 15q duplication syndrome SO EPILEPSIA LA English DT Article DE Dup15q; Epilepsy; Isodicentric chromosome 15q; Seizures ID INV DUP 15; AUTISM-SPECTRUM DISORDERS; ANGELMAN-SYNDROME; GABA(A) RECEPTOR; PROXIMAL 15Q; INTERSTITIAL DUPLICATIONS; GENERALIZED EPILEPSY; MARKER CHROMOSOMES; MECP2 DEFICIENCY; NATURAL-HISTORY AB ObjectiveSeizures are common in individuals with duplications of chromosome 15q11.2-q13 (Dup15q). The goal of this study was to examine the phenotypes and treatments of seizures in Dup15q in a large population. MethodsA detailed electronic survey was conducted through the Dup15q Alliance containing comprehensive questions regarding seizures and their treatments in Dup15q. ResultsThere were 95 responses from Dup15q families. For the 83 with idic(15), 63% were reported to have seizures, of which 81% had multiple seizure types and 42% had infantile spasms. Other common seizure types were tonic-clonic, atonic, myoclonic, and focal. Only 3 of 12 individuals with int dup(15) had seizures. Broad spectrum antiepileptic drugs (AEDs) were the most effective medications, but carbamazepine and oxcarbazepine were also effective, although typical benzodiazepines were relatively ineffective. There was a 24% response rate (>90% seizure reduction) to the first AED tried. For those with infantile spasms, adrenocorticotropic hormone (ACTH) was more effective than vigabatrin. SignificanceThis is the largest study assessing seizures in Duplication 15q syndrome, but because this was a questionnaire-based study with a low return rate, it is susceptible to bias. Seizures are common in idic(15) and typically difficult to control, often presenting with infantile spasms and progressing to a Lennox-Gastaut-type syndrome. Seizures in those with int dup(15) are less common, with a frequency similar to the general autism population. In addition to broad spectrum AED, medications such as carbamazepine and oxcarbazepine are also relatively effective in controlling seizures in this population, suggesting a possible multifocal etiology, which may also explain the high rate of infantile spasms. Our small sample suggests a relative lack of efficacy of vigabatrin and other -aminobutyric acid (GABA)ergic medications, such as typical benzodiazepines, which may be attributable to abnormal GABAergic transmission resulting from the duplication of a cluster of GABA3 receptor genes in the 15q11.2-13 region. C1 [Conant, Kerry D.; Martin, Ashley; Murphy, Erin K.; Rabe, Olivia; Thibert, Ronald L.] Massachusetts Gen Hosp, Pediat Epilepsy Program, Boston, MA 02114 USA. [Finucane, Brenda] Geisinger Hlth Syst, Lewisburg, PA USA. [Finucane, Brenda; Cleary, Nicole; Luchsinger, Kadi; Spence, Sarah J.; Schanen, Carolyn; Devinsky, Orrin; Cook, Edwin H.; Reiter, Lawrence T.; Thibert, Ronald L.] Dup15q Alliance, Alliance, NY USA. [Muss, Candace; Delany, Mary] Elwyn, Elwyn, PA USA. [Spence, Sarah J.] Boston Childrens Hosp, Dept Neurol, Boston, MA USA. [Schanen, Carolyn] DuPont Co Inc, Wilmington, DC USA. [Devinsky, Orrin] NYU, Dept Neurol, Sch Med, New York, NY 10016 USA. [Cook, Edwin H.] Univ Illinois, Chicago, IL USA. [Reiter, Lawrence T.] Univ Calif Davis, Genome Ctr, MIND Inst, Davis, CA 95616 USA. [Reiter, Lawrence T.] Univ Tennessee, Ctr Hlth Sci, Dept Neurol, Memphis, TN 38163 USA. RP Thibert, RL (reprint author), 175 Cambridge St,Suite 340, Boston, MA 02114 USA. 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Chetouani, Mohamed Bursztejn, Claude Golse, Bernard Nabbout, Rima Desguerre, Isabelle Cohen, David TI Infant's engagement and emotion as predictors of autism or intellectual disability in West syndrome SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE Autism; Intellectual disability; West syndrome; Outcome; Risk assessment ID SPECTRUM DISORDERS; CHILDREN; SPASMS; SYNCHRONY; PARENTS; SIGNS; AGE AB West syndrome (WS) is a rare epileptic encephalopathy with early onset and a high risk of autistic outcome. The Pr,Aut grid assesses this risk following WS onset by taking into account synchrony and emotion in interactions and by evaluating the baby's active desire to engage in pleasant interactions (especially the infant's early active behaviors that encourage being gazed at or kissed by the mother or to share joy with her). We followed a sample of 25 WS patients prospectively from disease onset and assessed whether the Pr,Aut grid before 9 months, and the checklist for autism in toddlers (CHAT) at 18 and 24 months predicted autism or intellectual disability (ID) outcomes at 4 years. We found that the Pr,Aut grid at 9 months (sensitivity = 0.83; specificity = 1) had similar prediction parameters as the CHAT at 18 months (sensitivity = 0.90; specificity = 0.83) and 24 months (sensitivity = 0.92; specificity = 1). WS patients with a positive Pr,Aut screening at 9 months had a risk of having autism or ID at 4 years, which is 38 times that of children with a negative Pr,Aut grid [OR = 38.6 (95 % CI 2.2-2961); p = 0.006]. We conclude that the Pr,Aut grid could be a useful tool for the early detection of autism or ID risk in the context of WS. Further research is needed to assess the Pr,Aut grid in other contexts (e.g. infants at high-risk for non-syndromic autism). C1 [Ouss, Lisa; Robel, Laurence; Golse, Bernard] Hop Necker Enfants Malad, AP HP, Serv Psychiat Enfant, F-75015 Paris, France. [Saint-Georges, Catherine; Bodeau, Nicolas; Cohen, David] Hop La Pitie Salpetriere, AP HP, Dept Psychiat Enfant & Adolescent, F-75252 Paris 13, France. [Saint-Georges, Catherine; Chetouani, Mohamed; Cohen, David] UMPC, CNRS, ISIR, UMR 7222, F-75252 Paris, France. [Laznik, Marie-Christine] Assoc Sante Mentale 13eme, Dept Child & Adolescent Psychiat, Paris, France. [Crespin, Graciela C.] PREAUT Assoc, F-75004 Paris, France. [Bursztejn, Claude] Hop Univ Strasbourg, Dept Child & Adolescent Psychiat, F-67000 Strasbourg, France. [Nabbout, Rima; Desguerre, Isabelle] Hop Necker Enfants Malad, AP HP, Serv Neuropediat, F-75015 Paris, France. RP Cohen, D (reprint author), Hop La Pitie Salpetriere, AP HP, Dept Psychiat Enfant & Adolescent, 47-83 Blvd Hop, F-75252 Paris 13, France. EM lisa.ouss@nck.aphp.fr; david.cohen@psl.aphp.fr FU EADS foundation (PILE) by the Agence Nationale de la Recherche [ANR-12-SAMA-006-1]; Groupement de Recherche en Psychiatrie [GDR-3557] FX The authors thank all of the patients and families who participated in this study. The study was funded by the EADS foundation (PILE) by the Agence Nationale de la Recherche (ANR-12-SAMA-006-1) and the Groupement de Recherche en Psychiatrie (GDR-3557). 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Child Adolesc. Psych. PD MAR PY 2014 VL 23 IS 3 BP 143 EP 149 DI 10.1007/s00787-013-0430-x PG 7 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA AD0VE UT WOS:000332951400003 PM 23728914 ER PT J AU Scassellati, C Zanardini, R Tiberti, A Pezzani, M Valenti, V Effedri, P Filippini, E Conte, S Ottolini, A Gennarelli, M Bocchio-Chiavetto, L AF Scassellati, Catia Zanardini, Roberta Tiberti, Alessandra Pezzani, Marco Valenti, Vera Effedri, Paola Filippini, Elena Conte, Stefano Ottolini, Alberto Gennarelli, Massimo Bocchio-Chiavetto, Luisella TI Serum brain-derived neurotrophic factor (BDNF) levels in attention deficit-hyperactivity disorder (ADHD) SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE BDNF; Attention deficit-hyperactivity disorder; Serum ID DEFICIT/HYPERACTIVITY DISORDER; MENTAL-RETARDATION; FACTOR EXPRESSION; HUMAN PLATELETS; RAT-BRAIN; AUTISM; CHILDREN; PLASMA; BLOOD; GENE AB It has been proposed that the neurotrophin brain-derived neurotrophic factor (BDNF) may be involved in attention deficit-hyperactivity disorder (ADHD) etiopathogenesis. Alterations in BDNF serum levels have been observed in childhood/adulthood neurodevelopmental pathologies, but no evidence is available for BDNF serum concentrations in ADHD. The study includes 45 drug-na < ve ADHD children and 45 age-sex matched healthy subjects. Concentration of serum BDNF was determined by the ELISA method. BDNF serum levels in patients with ADHD were not different from those of controls (mean +/- A SD; ADHD: 39.33 +/- A 10.41 ng/ml; controls: 38.82 +/- A 8.29 ng/ml, t = -0.26, p = 0.80). Our findings indicate no alteration of serum BDNF levels in untreated patients with ADHD. A further stratification for cognitive, neuropsychological and psychopathological assessment in a larger sample could be useful to clarify the role of BDNF in the endophenotype characterization of ADHD. C1 [Scassellati, Catia; Zanardini, Roberta; Gennarelli, Massimo; Bocchio-Chiavetto, Luisella] IRCCS Ctr S Giovanni di Dio Fatebenefratelli, I-25123 Brescia, Italy. [Tiberti, Alessandra; Effedri, Paola; Filippini, Elena] Spedali Civil Brescia, Dept Childhood & Adolescent Neuropsychiat, I-25125 Brescia, Italy. [Pezzani, Marco; Conte, Stefano] Spedali Riuniti, Bergamo, Italy. [Valenti, Vera; Ottolini, Alberto] Adolescent Neuropsychiat Unit Fatebenefratelli &, Milan, Italy. [Gennarelli, Massimo] Univ Brescia, Dept Mol & Translat Med, Div Biol & Genet, Brescia, Italy. RP Scassellati, C (reprint author), IRCCS Ctr S Giovanni di Dio Fatebenefratelli, Via Pilastroni 4, I-25123 Brescia, Italy. EM cscassellati@fatebenefratelli.it RI Zanardini, Roberta/B-2991-2010 FU Fondazione Mariani [RF2006]; Italian Ministry of Health [Ricerca Corrente] FX This research was supported by grants from the Fondazione Mariani [RF2006] and the Italian Ministry of Health [Ricerca Corrente]. 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Child Adolesc. Psych. PD MAR PY 2014 VL 23 IS 3 BP 173 EP 177 DI 10.1007/s00787-013-0447-1 PG 5 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA AD0VE UT WOS:000332951400006 PM 23812866 ER PT J AU Frazier, JA McDougle, CJ AF Frazier, Jean A. McDougle, Christopher J. TI Introduction SO HARVARD REVIEW OF PSYCHIATRY LA English DT Editorial Material ID AUTISM C1 [Frazier, Jean A.] Univ Massachusetts Med Sch, Univ Massachusetts Hlth Care, Worcester, MA 01655 USA. [McDougle, Christopher J.] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Cambridge, MA 02138 USA. RP Frazier, JA (reprint author), Univ Massachusetts Med Sch, Univ Massachusetts Hlth Care, Worcester, MA 01655 USA. EM Jean.Frazier@umassmed.edu; cmcdougle@partners.org CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT [Anonymous], 2013, REPORT GOVERNORS SPE Autism and Developmental Disabilities Monitoring Network Surveillance Principal Investigators, 2012, MMWR SURVEILL SUMM, V61, P1 Cochran DM, 2013, HARVARD REV PSYCHIAT, V21, P219, DOI 10.1097/HRP.0b013e3182a75b7d Curtin C, 2014, J CLIN PSYCHOPHARM, V22, P93 Hazen EP, 2014, HARVARD REV PSYCHIAT, V22, P112, DOI 10.1097/01.HRP.0000445143.08773.58 Hollway JA, 2011, RES DEV DISABIL, V32, P939, DOI 10.1016/j.ridd.2010.12.035 Hsiao EY, 2014, HARVARD REV PSYCHIAT, V22, P104, DOI 10.1097/HRP.0000000000000029 Johnson CR, SLEEP MED, V201314, P995 Kanner L, 1943, NERV CHILD, V2, P217 McDougle CJ, 2013, J AM ACAD CHILD PSY, V52, P566, DOI 10.1016/j.jaac.2013.03.013 Pinder-Amaker S, 2014, HARVARD REV PSYCHIAT, V22, P125, DOI 10.1097/HRP.0000000000000032 Politte LC, 2014, HARVARD REV PSYCHIAT, V22, P76, DOI 10.1097/HRP.0000000000000030 SCHAIN RJ, 1961, J PEDIATR-US, V58, P315, DOI 10.1016/S0022-3476(61)80261-8 Stigler KA, 2009, RES AUTISM SPECT DIS, V3, P840, DOI 10.1016/j.rasd.2009.01.007 Talkowski ME, 2014, HARVARD REV PSYCHIAT, V22, P65, DOI 10.1097/HRP.0000000000000002 VanBergeijk E, 2008, J AUTISM DEV DISORD, V38, P1359, DOI 10.1007/s10803-007-0524-8 NR 17 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1067-3229 EI 1465-7309 J9 HARVARD REV PSYCHIAT JI Harv. Rev. Psychiatr. PD MAR-APR PY 2014 VL 22 IS 2 SI SI BP 61 EP 64 DI 10.1097/HRP.0000000000000028 PG 4 WC Psychiatry SC Psychiatry GA AD2QS UT WOS:000333080800001 PM 24614761 ER PT J AU Talkowski, ME Minikel, EV Gusella, JF AF Talkowski, Michael E. Minikel, Eric Vallabh Gusella, James F. TI Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes SO HARVARD REVIEW OF PSYCHIATRY LA English DT Review DE autism; chromosome rearrangement; common polymorphic variation; copy-number variation; exome sequencing; genetic architecture; genetic association; single-nucleotide variation ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; BALANCED CHROMOSOME REARRANGEMENTS; GENOME-WIDE ASSOCIATION; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY; MICRODELETION SYNDROME; STRUCTURAL VARIATION; TUBEROUS SCLEROSIS; EXONIC DELETIONS AB The last several years have seen unprecedented advances in deciphering the genetic etiology of autism spectrum disorders (ASDs). Heritability studies have repeatedly affirmed a contribution of genetic factors to the overall disease risk. Technical breakthroughs have enabled the search for these genetic factors via genome-wide surveys of a spectrum of potential sequence variations, from common single-nucleotide polymorphisms to essentially private chromosomal abnormalities. Studies of copy-number variation have identified significant roles for both recurrent and nonrecurrent large dosage imbalances, although they have rarely revealed the individual genes responsible. More recently, discoveries of rare point mutations and characterization of balanced chromosomal abnormalities have pinpointed individual ASD genes of relatively strong effect, including both loci with strong a priori biological relevance and those that would have otherwise been unsuspected as high-priority biological targets. Evidence has also emerged for association with many common variants, each adding a small individual contribution to ASD risk. These findings collectively provide compelling empirical data that the genetic basis of ASD is highly heterogeneous, with hundreds of genes capable of conferring varying degrees of risk, depending on their nature and the predisposing genetic alteration. Moreover, many genes that have been implicated in ASD also appear to be risk factors for related neurodevelopmental disorders, as well as for a spectrum of psychiatric phenotypes. While some ASD genes have evident functional significance, like synaptic proteins such as the SHANKs, neuroligins, and neurexins, as well as fragile x mental retardation-associated proteins, ASD genes have also been discovered that do not present a clear mechanism of specific neurodevelopmental dysfunction, such as regulators of chromatin modification and global gene expression. In its sum, the progress from genetic studies to date has been remarkable and increasingly rapid, but the interactive impact of strong-effect genetic lesions coupled with weak-effect common polymorphisms has not yet led to a unified understanding of ASD pathogenesis or explained its highly variable clinical expression. With an increasingly firm genetic foundation, the coming years will hopefully see equally rapid advances in elucidating the functional consequences of ASD genes and their interactions with environmental/experiential factors, supporting the development of rational interventions. C1 [Talkowski, Michael E.; Gusella, James F.] Harvard Univ, Sch Med, Boston, MA USA. [Talkowski, Michael E.; Gusella, James F.] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA. [Talkowski, Michael E.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. [Talkowski, Michael E.; Minikel, Eric Vallabh; Gusella, James F.] Massachusetts Gen Hosp, Mol Neurogenet Unit, Ctr Human Genet Res, Boston, MA 02114 USA. RP Gusella, JF (reprint author), Massachusetts Gen Hosp, Ctr Human Genet Res, 185 Cambridge St, Boston, MA 02114 USA. EM gusella@helix.mgh.harvard.edu FU Simons Foundation for Autism Research; Nancy Lurie Marks Family Foundation; NARSAD; March of Dimes; Charles Hood Foundation; Autism Speaks; National Institutes of Health [MH095867, GM061354] FX Funded, in part, by the Simons Foundation for Autism Research and Nancy Lurie Marks Family Foundation (Drs. Talkowski and Gusella); NARSAD, March of Dimes, and Charles Hood Foundation (Dr. Talkowski); Autism Speaks (Dr. Gusella); and National Institutes of Health (MH095867 to Dr. Talkowski and GM061354 to Dr. Gusella). 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Rev. Psychiatr. PD MAR-APR PY 2014 VL 22 IS 2 SI SI BP 65 EP 75 DI 10.1097/HRP.0000000000000002 PG 11 WC Psychiatry SC Psychiatry GA AD2QS UT WOS:000333080800002 PM 24614762 ER PT J AU Politte, LC Henry, CA McDougle, CJ AF Politte, Laura C. Henry, Charles A. McDougle, Christopher J. TI Psychopharmacological Interventions in Autism Spectrum Disorder SO HARVARD REVIEW OF PSYCHIATRY LA English DT Review DE anticonvulsants; antidepressants; atypical antipsychotics; autism; autismspectrumdisorders; mood stabilizers; oxytocin; pervasive developmental disorders; psychopharmacology; stimulants ID PERVASIVE DEVELOPMENTAL DISORDERS; PLACEBO-CONTROLLED TRIAL; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; OPEN-LABEL TRIAL; OBSESSIVE-COMPULSIVE DISORDER; SEROTONIN REUPTAKE INHIBITORS; CONTROLLED-RELEASE MELATONIN; GUANFACINE EXTENDED-RELEASE; N-ACETYL CYSTEINE; DEFICIT HYPERACTIVITY DISORDER AB Learning Objectives: After participating in this educational activity, the physician should be better able to 1. Prescribe the appropriate psychotropic medication to treat symptoms of ASD. 2. Identify the side effects of the psychotropic medications used to treat ASD. Autism spectrum disorders (ASDs) are characterized by core deficits in social communication and language, and restrictive and repetitive behaviors that cause significant functional impairment and distress for affected individuals and their caregivers. The increasing prevalence of ASD, most recently estimated as 1 in 88 children, presents an ever-increasing burden on families, schools, medical systems, and society at large. Individuals with ASD commonly present for treatment of associated emotional and behavioral disturbances that include anxiety, symptoms of ADHD, compulsions and other repetitive behaviors, mood lability, irritability, aggression, and sleep disturbance. Psychotropic medications are widely utilized in alleviating these symptoms, though rigorous clinical trials in ASD are lacking for most areas of impairment. Strong evidence from randomized, placebo-controlled trials supports the use of atypical antipsychotics, particularly risperidone and aripiprazole, for managing severe irritability and aggression in ASD. Serotonin reuptake inhibitors are commonly used to treat anxiety and compulsions, though reports of efficacy in the literature are mixed, and behavioral side effects in children are common. Minimal evidence supports the utility of anticonvulsants and traditionalmood stabilizers in managing mood lability and aggression. Stimulant and nonstimulant ADHD medications can be effective for reducing hyperactivity, inattention, and impulsivity, though to a lesser degree than in ADHD populations without ASD and with greater risk of adverse effects. Psychopharmacological interventions in development for core symptoms of autism include those that target the glutamatergic and GABAergic neurotransmitter systems and the neuropeptide oxytocin. Further research is needed to establish evidence-based interventions in ASD populations. C1 Harvard Univ, Sch Med, Lexington, MA USA. [Politte, Laura C.] Massachusetts Gen Hosp, Lurie Ctr Autism, Lexington, MA 02421 USA. MassGen Hosp Children, Lexington, MA USA. RP Politte, LC (reprint author), Massachusetts Gen Hosp, Lurie Ctr Autism, 1 Maguire Rd, Lexington, MA 02421 USA. 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Harv. Rev. Psychiatr. PD MAR-APR PY 2014 VL 22 IS 2 SI SI BP 76 EP 92 DI 10.1097/HRP.0000000000000030 PG 17 WC Psychiatry SC Psychiatry GA AD2QS UT WOS:000333080800003 PM 24614763 ER PT J AU Curtin, C Jojic, M Bandini, LG AF Curtin, Carol Jojic, Mirjana Bandini, Linda G. TI Obesity in Children with Autism Spectrum Disorder SO HARVARD REVIEW OF PSYCHIATRY LA English DT Review DE autism spectrum disorder; children; eating patterns; genetics; obesity; physical activity; psychopharmacology; sleep ID INDUCED WEIGHT-GAIN; FRAGILE-X-SYNDROME; BODY-MASS INDEX; PERVASIVE DEVELOPMENTAL DISORDERS; TYPICALLY DEVELOPING-CHILDREN; PLACEBO-CONTROLLED TRIAL; OPEN-LABEL TRIAL; DOUBLE-BLIND; PHYSICAL-ACTIVITY; CHILDHOOD OBESITY AB Research suggests that the prevalence of obesity in children with autism spectrum disorder (ASD) is at least as high as that seen in typically developing children. Many of the risk factors for children with ASD are likely the same as for typically developing children, especially within the context of today's obesogenic environment. The particular needs and challenges that this population faces, however, may render them more susceptible to the adverse effects of typical risk factors, and they may also be vulnerable to additional risk factors not shared by children in the general population, including psychopharmacological treatment, genetics, disordered sleep, atypical eating patterns, and challenges for engaging in sufficient physical activity. For individuals with ASD, obesity and its sequelae potentially represent a significant threat to independent living, self-care, quality of life, and overall health. C1 [Curtin, Carol; Bandini, Linda G.] Univ Massachusetts, Sch Med, EK Shriver Ctr, Charlestown, MA 02129 USA. [Jojic, Mirjana] Univ Massachusetts, Sch Med, Dept Psychiat, Worcester, MA 01655 USA. RP Curtin, C (reprint author), Univ Massachusetts, Sch Med, EK Shriver Ctr, 465 Medford St,Suite 500, Charlestown, MA 02129 USA. 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LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1067-3229 EI 1465-7309 J9 HARVARD REV PSYCHIAT JI Harv. Rev. Psychiatr. PD MAR-APR PY 2014 VL 22 IS 2 SI SI BP 93 EP 103 DI 10.1097/HRP.0000000000000031 PG 11 WC Psychiatry SC Psychiatry GA AD2QS UT WOS:000333080800004 PM 24614764 ER PT J AU Hsiao, EY AF Hsiao, Elaine Y. TI Gastrointestinal Issues in Autism Spectrum Disorder SO HARVARD REVIEW OF PSYCHIATRY LA English DT Review DE gastroenterology; gut; immunity; intestine; neurodevelopment ID PERVASIVE DEVELOPMENTAL DISORDERS; LYMPHOCYTE CYTOKINE PROFILES; INFLAMMATORY-BOWEL-DISEASE; GUT MICROBIOTA; MATERNAL AUTOANTIBODIES; DIETARY INTERVENTION; BEHAVIORAL SYMPTOMS; IMMUNE ACTIVATION; PERIPHERAL-BLOOD; SEROTONIN LEVELS AB While autism spectrum disorder (ASD) is characterized by communication impairments, social abnormalities, and stereotypic behaviors, several medical comorbidities are observed in autistic individuals. Of these, gastrointestinal (GI) abnormalities are of particular interest given their reported prevalence and correlation with the severity of core autism-related behavioral abnormalities. This review discusses the GI pathologies seen in ASD individuals and the association of particular GI conditions with known genetic and environmental risk factors for autism. It further addresses how GI abnormalities can affect the neuropathological and behavioral features of ASD, as well as the development of autism-related endophenotypes such as immune dysregulation, hyperserotonemia, and metabolic dysfunction. Finally, it presents emerging evidence for a gut-brain connection in autism, wherein GI dysfunction may contribute to the pathogenesis or severity of ASD symptoms. C1 [Hsiao, Elaine Y.] CALTECH, Div Biol, Pasadena, CA 91125 USA. [Hsiao, Elaine Y.] CALTECH, Div Chem Engn, Pasadena, CA 91125 USA. RP Hsiao, EY (reprint author), 1200 E Calif Blvd,M-C 216-76, Pasadena, CA 91125 USA. 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Rev. Psychiatr. PD MAR-APR PY 2014 VL 22 IS 2 SI SI BP 104 EP 111 DI 10.1097/HRP.0000000000000029 PG 8 WC Psychiatry SC Psychiatry GA AD2QS UT WOS:000333080800005 PM 24614765 ER PT J AU Hazen, EP Stornelli, JL O'Rourke, JA Koesterer, K McDougle, CJ AF Hazen, Eric P. Stornelli, Jennifer L. O'Rourke, Julia A. Koesterer, Karmen McDougle, Christopher J. TI Sensory Symptoms in Autism Spectrum Disorders SO HARVARD REVIEW OF PSYCHIATRY LA English DT Review DE autism spectrum disorder; pervasive developmental delay; sensory integration; sensory overresponsitivity; sensory processing ID SELF-INJURIOUS-BEHAVIOR; REPETITIVE BEHAVIORS; OVER-RESPONSIVITY; YOUNG-CHILDREN; CORPUS-CALLOSUM; DEVELOPMENTAL DISORDERS; PRESCHOOL-CHILDREN; ADAPTIVE-BEHAVIOR; WILLIAMS-SYNDROME; DEEP PRESSURE AB The aim of this review is to summarize the recent literature regarding abnormalities in sensory functioning in individuals with autism spectrum disorder (ASD), including evidence regarding the neurobiological basis of these symptoms, their clinical correlates, and their treatment. Abnormalities in responses to sensory stimuli are highly prevalent in individuals with ASD. The underlying neurobiology of these symptoms is unclear, but several theories have been proposed linking possible etiologies of sensory dysfunction with known abnormalities in brain structure and function that are associated with ASD. In addition to the distress that sensory symptoms can cause patients and caregivers, these phenomena have been correlated with several other problematic symptoms and behaviors associated with ASD, including restrictive and repetitive behavior, self-injurious behavior, anxiety, inattention, and gastrointestinal complaints. It is unclear whether these correlations are causative in nature or whether they are due to shared underlying pathophysiology. The best-known treatments for sensory symptoms in ASD involve a program of occupational therapy that is specifically tailored to the needs of the individual and that may include sensory integration therapy, a sensory diet, and environmental modifications. While some empirical evidence supports these treatments, more research is needed to evaluate their efficacy, and other means of alleviating these symptoms, including possible psychopharmacological interventions, need to be explored. Additional research into the sensory symptoms associated with ASD has the potential to shed more light on the nature and pathophysiology of these disorders and to open new avenues of effective treatments. C1 [Hazen, Eric P.; O'Rourke, Julia A.; McDougle, Christopher J.] Harvard Univ, Sch Med, Boston, MA USA. [Hazen, Eric P.; McDougle, Christopher J.] Massachusetts Gen Hosp, Div Child & Adolescent Psychiat, Boston, MA 02114 USA. [Stornelli, Jennifer L.; O'Rourke, Julia A.; Koesterer, Karmen; McDougle, Christopher J.] Massachusetts Gen Hosp, Lurie Ctr Autism, Boston, MA 02114 USA. [O'Rourke, Julia A.] Massachusetts Gen Hosp, Comp Sci Lab, Boston, MA 02114 USA. [Stornelli, Jennifer L.] Spaulding Outpatient Ctr Children, Lexington, MA USA. RP Hazen, EP (reprint author), Massachusetts Gen Hosp, 55 Fruit St,YAW 6A, Boston, MA 02114 USA. 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PD MAR-APR PY 2014 VL 22 IS 2 SI SI BP 112 EP 124 DI 10.1097/01.HRP.0000445143.08773.58 PG 13 WC Psychiatry SC Psychiatry GA AD2QS UT WOS:000333080800006 PM 24614766 ER PT J AU Pinder-Amaker, S AF Pinder-Amaker, Stephanie TI Identifying the Unmet Needs of College Students on the Autism Spectrum SO HARVARD REVIEW OF PSYCHIATRY LA English DT Article DE Asperger's disorder; college student mental health; ecological systems theory; high-functioning autism spectrum disorder; postsecondary education; secondary education ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; MULTISYSTEMIC THERAPY; SUICIDE-PREVENTION; MENTAL-HEALTH; YOUNG-ADULTS; POSTSECONDARY EDUCATION; PSYCHIATRIC-DISORDERS; SOCIAL-SKILLS; HELP-SEEKING AB The number of students entering college with high-functioning autism spectrum disorders (ASDs) is expected to surge in coming years. The diagnostic features and psychiatric risks of ASD, coupled with the transitions and stresses that define college life, present extraordinary challenges for these students, their parents, and institutions of higher education. This article applies a bioecological framework for conceptualizing the systemic strengths and barriers at the secondary and postsecondary levels of education in supporting students with ASD. This theoretical orientation is used to illustrate the importance of offering services and programs in a more coordinated and fluid manner within and between systems to support students more effectively. Evidence-based programs, practices, and interventions associated with successful academic and mental health outcomes for youth and young adults with ASD, as well as for college students with mental health and other challenges, are reviewed for their applicability to the target population. It is proposed that more fluid transitions and improved mental health and academic outcomes for college students with ASD can be achieved by integrating elements from secondary and postsecondary educational systems and also from existing, effective approaches with youth and young adults. Building upon the disjointed, but promising, evidence from youth, young adult, and college mental health literatures, recommendations for developing more effective transition plans for students with ASD are proposed. C1 [Pinder-Amaker, Stephanie] Harvard Univ, Sch Med, Belmont, MA 02178 USA. [Pinder-Amaker, Stephanie] McLean Hosp, Dept Psychol, Belmont, MA 02178 USA. RP Pinder-Amaker, S (reprint author), McLean Hosp Psychol, 115 Mill St, Belmont, MA 02478 USA. 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Tomoda, Akemi TI Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population SO JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B LA English DT Article DE Autism; ZNF533; DOCK4; IMMP2L; Northeastern Chinese Han population; Single-nucleotide polymorphism ID TOURETTE-SYNDROME; LINKAGE DISEQUILIBRIUM; SPECTRUM DISORDERS; GENOMIC SCREEN; RISK LOCI; CHROMOSOME-2; REARRANGEMENTS; HETEROGENEITY; EPIDEMIOLOGY; PREVALENCE AB Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population. Methods: We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results. Results: There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: X-2=4.5200, P=0.0335; rs1964081: X-2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: X-2=5.3430, P=0.0208). Conclusions: Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population. C1 [Liang, Shuang; Wang, Xue-lai; Zou, Ming-yang; Wang, Han; Zhou, Xue; Sun, Cai-hong; Xia, Wei; Wu, Li-jie] Harbin Med Univ, Coll Publ Hlth, Dept Childrens & Adolescent Hlth, Harbin 150081, Peoples R China. [Fujisawa, Takashi X.; Tomoda, Akemi] Univ Fukui, Child Mental Dev, Res Ctr, Eiheiji, Fukui 9101193, Japan. RP Wu, LJ (reprint author), Harbin Med Univ, Coll Publ Hlth, Dept Childrens & Adolescent Hlth, Harbin 150081, Peoples R China. 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Zhejiang Univ.-SCI. B PD MAR PY 2014 VL 15 IS 3 BP 264 EP 271 DI 10.1631/jzus.B1300133 PG 8 WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Research & Experimental Medicine GA AD1QP UT WOS:000333008800006 PM 24599690 ER PT J AU Soto, G Yu, B AF Soto, Gloria Yu, Betty TI Considerations for the Provision of Services to Bilingual Children Who Use Augmentative and Alternative Communication SO AUGMENTATIVE AND ALTERNATIVE COMMUNICATION LA English DT Article DE AAC; Bilingualism; Language; Culture ID AUTISM SPECTRUM DISORDERS; ENGLISH-LANGUAGE LEARNERS; SEVERE DISABILITIES; INTERVENTION; SPEECH; IMPAIRMENT; PARENTS; METAANALYSIS; INDIVIDUALS; INSTRUCTION AB Augmentative and alternative communication (AAC) service providers are increasingly serving a significant number of clients from culturally and linguistically diverse backgrounds. In this paper, we discuss general considerations and future research needs relevant to the use of AAC strategies and techniques with bilingual children, specifically, issues related to the scaffolding of communication and language development in more than one language, and the selection and customization of AAC systems for bilingual children. We do so by first reviewing key research on bilingualism with children with communication disabilities and its implications for research and practice in the AAC field. We propose the use of a sociocultural approach to AAC service delivery and argue for the support of both languages needed by the child to fully participate in his or her communicative environments. Implications of the sociocultural perspective and future research needs are also presented. C1 [Soto, Gloria; Yu, Betty] San Francisco State Univ, Dept Special Educ & Commun Disorders, San Francisco, CA 94132 USA. 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PD MAR PY 2014 VL 30 IS 1 BP 83 EP 92 DI 10.3109/07434618.2013.878751 PG 10 WC Audiology & Speech-Language Pathology; Rehabilitation SC Audiology & Speech-Language Pathology; Rehabilitation GA AC8PC UT WOS:000332794900007 ER PT J AU Shorter, KR Owen, A Anderson, V Hall-South, AC Hayford, S Cakora, P Crossland, JP Georgi, VRM Perkins, A Kelly, SJ Felder, MR Vrana, PB AF Shorter, Kimberly R. Owen, Amy Anderson, Vanessa Hall-South, April C. Hayford, Samantha Cakora, Patricia Crossland, Janet P. Georgi, Velina R. M. Perkins, Amy Kelly, Sandra J. Felder, Michael R. Vrana, Paul B. TI Natural Genetic Variation Underlying Differences in Peromyscus Repetitive and Social/Aggressive Behaviors SO BEHAVIOR GENETICS LA English DT Article DE Stereotypies; Aggression; Social interaction; Y chromosome; Peromyscus ID DEER MICE; ENVIRONMENTAL ENRICHMENT; SPONTANEOUS STEREOTYPY; MOUSE; MANICULATUS; AGGRESSION; PHENOTYPES; CALIFORNICUS; EXPERIENCE; EVOLUTION AB Peromyscus maniculatus (BW) and P. polionotus (PO) are interfertile North American species that differ in many characteristics. For example, PO exhibit monogamy and BW animals are susceptible to repetitive behaviors and thus a model for neurobehavioral disorders such as Autism. We analyzed these two stocks as well as their hybrids, a BW Y-PO consomic line (previously shown to alter glucose homeostasis) and a natural P. maniculatus agouti variant (A(Nb) = wide band agouti). We show that PO animals engage in far less repetitive behavior than BW animals, that this trait is dominant, and that trait distribution in both species is bi-modal. The A(Nb) allele also reduces such behaviors, particularly in females. PO, F1, and A(Nb) animals all dig significantly more than BW. Increased self-grooming is also a PO dominant trait, and there is a bimodal trait distribution in all groups except BW. The inter-stock differences in self-grooming are greater between males, and the consomic data suggest the Y chromosome plays a role. The monogamous PO animals engage in more social behavior than BW; hybrid animals exhibit intermediate levels. Surprisingly, A(Nb) animals are also more social than BW animals, although A(Nb) interactions led to aggressive interactions at higher levels than any other group. PO animals exhibited the lowest incidence of aggressive behaviors, while the hybrids exhibited BW levels. 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Genet. PD MAR PY 2014 VL 44 IS 2 BP 126 EP 135 DI 10.1007/s10519-013-9640-8 PG 10 WC Behavioral Sciences; Genetics & Heredity; Psychology, Multidisciplinary SC Behavioral Sciences; Genetics & Heredity; Psychology GA AC3UX UT WOS:000332447800005 PM 24407381 ER PT J AU Maenner, MJ Rice, CE Arneson, CL Cunniff, C Schieve, LA Carpenter, LA Braun, KV Kirby, RS Bakian, AV Durkin, MS AF Maenner, Matthew J. Rice, Catherine E. Arneson, Carrie L. Cunniff, Christopher Schieve, Laura A. Carpenter, Laura A. Braun, Kim Van Naarden Kirby, Russell S. Bakian, Amanda V. Durkin, Maureen S. TI Potential Impact of DSM-5 Criteria on Autism Spectrum Disorder Prevalence Estimates SO JAMA PSYCHIATRY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECIAL-EDUCATION DATA; IV-TR; DIAGNOSTIC-CRITERIA; UNITED-STATES; EPIDEMIOLOGY; SURVEILLANCE; SPECIFICITY; SENSITIVITY; CHILDREN AB IMPORTANCE The DSM-5 contains revised diagnostic criteria for autism spectrum disorder (ASD) from the DSM-IV-TR. Potential impacts of the new criteria on ASD prevalence are unclear. OBJECTIVE To assess potential effects of the DSM-5 ASD criteria on ASD prevalence estimation by retrospectively applying the new criteria to population-based surveillance data collected for previous ASD prevalence estimation. DESIGN, SETTING, AND PARTICIPANTS Cross-sectional, population-based ASD surveillance based on clinician review of coded behaviors documented in children's medical and educational evaluations from 14 geographically defined areas in the United States participating in the Autism and Developmental Disabilities Monitoring (ADDM) Network in 2006 and 2008. This study included 8-year-old children living in ADDM Network study areas in 2006 or 2008, including 644 883 children under surveillance, of whom 6577 met surveillance ASD case status based on the DSM-IV-TR. MAIN OUTCOMES AND MEASURES Proportion of children meeting ADDM Network ASD criteria based on the DSM-IV-TR who also met DSM-5 criteria; overall prevalence of ASD using DSM-5 criteria. RESULTS Among the 6577 children classified by the ADDM Network as having ASD based on the DSM-IV-TR, 5339 (81.2%) met DSM-5 ASD criteria. This percentage was similar for boys and girls but higher for those with than without intellectual disability (86.6% and 72.5%, respectively; P < .001). A total of 304 children met DSM-5 ASD criteria but not current ADDM Network ASD case status. Based on these findings, ASD prevalence per 1000 for 2008 would have been 10.0 (95% CI, 9.6-10.3) using DSM-5 criteria compared with the reported prevalence based on DSM-IV-TR criteria of 11.3 (95% CI, 11.0-11.7). CONCLUSIONS AND RELEVANCE Autism spectrum disorder prevalence estimates will likely be lower under DSM-5 than under DSM-IV-TR diagnostic criteria, although this effect could be tempered by future adaptation of diagnostic practices and documentation of behaviors to fit the new criteria. C1 [Maenner, Matthew J.; Arneson, Carrie L.; Durkin, Maureen S.] Univ Wisconsin Madison, Madison, WI USA. [Maenner, Matthew J.; Rice, Catherine E.; Schieve, Laura A.; Braun, Kim Van Naarden] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA. [Cunniff, Christopher] Univ Arizona, Coll Med, Phoenix, AZ USA. [Carpenter, Laura A.] Med Univ S Carolina, Charleston, SC USA. [Kirby, Russell S.] Univ S Florida, Tampa, FL USA. [Bakian, Amanda V.] Univ Utah, Salt Lake City, UT USA. RP Maenner, MJ (reprint author), Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, 1600 Clifton Rd,MS E-86, Atlanta, GA 30333 USA. EM mmaenner@cdc.gov RI Durkin, Maureen/B-7834-2015 FU Autism Science Foundation; Centers for Disease Control and Prevention [UR3/CCU523235, UR3/DD000078, UR3/DD000677]; National Institute of Child Health and Human Development grant [T32 HD007489-04]; Waisman Center [P30 HD03352] FX This work was supported by a grant from the Autism Science Foundation and by the Centers for Disease Control and Prevention Cooperative Agreements UR3/CCU523235, UR3/DD000078, and UR3/DD000677. Additional support was from National Institute of Child Health and Human Development grant T32 HD007489-04 and the Waisman Center (grant P30 HD03352). 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Petersen, Liselotte Agerbo, Esben Mors, Ole Mortensen, Preben Bo Pedersen, Carsten Bocker TI A Comprehensive Assessment of Parental Age and Psychiatric Disorders SO JAMA PSYCHIATRY LA English DT Article ID ADVANCING PATERNAL AGE; DE-NOVO MUTATIONS; DEFICIT-HYPERACTIVITY DISORDER; RISK-FACTORS; MATERNAL AGE; SCHIZOPHRENIA; PREGNANCY; COHORT; BIRTH; CHILDREN AB IMPORTANCE There has been recent interest in the findings that the offspring of older fathers have an increased risk of both de novo mutations and neuropsychiatric disorders. However, the offspring of younger parents are also at risk for some adverse mental health outcomes. OBJECTIVE To determine the association between maternal and paternal age and a comprehensive range of mental health disorders. DESIGN, SETTING, AND PARTICIPANTS A comprehensive, population-based record linkage study using the Danish Psychiatric Central Research Register from January 1, 1995, through December 31, 2011. A total of 2 894 688 persons born in Denmark from January 1, 1955, through December 31, 2006, were followed up during the study period. EXPOSURES Maternal and paternal age at the time of offspring's birth. MAIN OUTCOMES AND MEASURES We examined a broad range of International Classification of Diseases-defined mental disorders, including substance use; schizophrenia and related disorders; mood disorders; neurotic, stress-related, and somatoform disorders; eating disorders; specific personality disorders; and a range of developmental and childhood disorders. The incidence rate ratios for each mental disorder outcome were estimated by log linear Poisson regression with adjustments for the calendar period, age, sex, and age of the other parent. RESULTS The cohort was observed for 42.7 million person-years, during which 218 441 members of the cohort had their first psychiatric contact for any psychiatric disorder. Based on the overall risk of psychiatric disorders, the offspring of younger and older parents were at increased risk compared with those of parents aged 25 to 29 years. When the offspring were examined for particular disorders, the nature of the relationship changed. For example, the offspring of older fathers were at an increased risk of schizophrenia and related disorders, mental retardation, and autism spectrum disorders. In contrast, the offspring of young mothers (and to a lesser extent young fathers) were at an increased risk for substance use disorders, hyperkinetic disorders, and mental retardation. CONCLUSIONS AND RELEVANCE The offspring of younger mothers and older fathers are at risk for different mental health disorders. These differences can provide clues to the complex risk architecture underpinning the association between parental age and the mental health of offspring. C1 [McGrath, John J.] Univ Queensland, Queensland Brain Inst, St Lucia, Qld 4072, Australia. [McGrath, John J.] Queensland Ctr Mental Hlth Res, Pk Ctr Mental Hlth, Richlands, Australia. [Petersen, Liselotte; Agerbo, Esben; Mortensen, Preben Bo; Pedersen, Carsten Bocker] Aarhus Univ, Natl Ctr Register Based Res, Sch Business & Social Sci, Aarhus, Denmark. [Petersen, Liselotte; Agerbo, Esben; Mors, Ole; Mortensen, Preben Bo; Pedersen, Carsten Bocker] Lundbeck Fdn, Initiat Integrat Psychiat Res, Valby, Denmark. [Agerbo, Esben; Mortensen, Preben Bo; Pedersen, Carsten Bocker] Aarhus Univ, Ctr Integrated Register Based Res, Aarhus, Denmark. [Mors, Ole] Aarhus Univ Hosp, Risskov, Denmark. RP McGrath, JJ (reprint author), Univ Queensland, Queensland Brain Inst, St Lucia, Qld 4072, Australia. EM j.mcgrath@uq.edu.au RI McGrath, John/G-5493-2010; Pedersen, Carsten Bocker/B-8441-2013; Agerbo, Esben /A-2645-2012 OI McGrath, John/0000-0002-4792-6068; Agerbo, Esben /0000-0002-2849-524X FU John Cade Fellowship from the Australian National Health and Medical Research Council [1056929]; Stanley Medical Research Institute; Lundbeck Foundation FX This study was supported by the John Cade Fellowship 1056929 from the Australian National Health and Medical Research Council (Dr McGrath), by the Stanley Medical Research Institute, and by grants from The Lundbeck Foundation. 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autism spectrum disorder; developmental disabilities ID SPECTRUM DISORDERS; YOUNG-CHILDREN; THERAPIES; FAMILIES; SLEEP AB The use of complementary and alternative medicine by children with autism and the association of its use with child comorbid symptoms and parental stress was studied in an ethnically diverse population, in a cross-sectional study with structured interviews. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included the Complementary and Alternative Medicine Questionnaire, Gastrointestinal Questionnaire, Children's Sleep Habits Questionnaire, Aberrant Behavior Checklist, and Parenting Stress Index. In this ethnically diverse sample, the use of complementary and alternative medicine was significantly higher for the autism group. In the autism group, use was significantly related to child's irritability, hyperactivity, food allergies, and parental stress; in the developmental disabilities group, there was no association with child comorbid symptoms or parental stress. The results contribute information to health care providers about families of children with autism who are more likely to use complementary and alternative medicine. C1 [Valicenti-McDermott, Maria; Burrows, Bethany; Bernstein, Leora; Hottinger, Kathryn; Lawson, Katharine; Seijo, Rosa; Schechtman, Merryl; Shulman, Lisa; Shinnar, Shlomo] Albert Einstein Coll Med, Childrens Evaluat & Rehabil Ctr, RF Kennedy Ctr Excellence Dev Disabil, Bronx, NY 10461 USA. [Shinnar, Shlomo] Montefiore Med Ctr, Albert Einstein Coll Med, Saul R Korey Dept Neurol, Bronx, NY 10467 USA. RP Valicenti-McDermott, M (reprint author), Albert Einstein Coll Med, Childrens Evaluat & Rehabil Ctr, 1165 Morris Pk Ave, Bronx, NY 10461 USA. EM rvalicenti@hotmail.com FU Children's Evaluation and Rehabilitation Center AECOM Internal Grant FX The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This project was supported in part by the Children's Evaluation and Rehabilitation Center AECOM Internal Grant (MV). 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Child Neurol. PD MAR PY 2014 VL 29 IS 3 BP 360 EP 367 DI 10.1177/0883073812474489 PG 8 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA AB0WH UT WOS:000331512300010 PM 23372032 ER PT J AU Morhardt, DR Barrow, W Jaworski, M Accardo, PJ AF Morhardt, Duncan R. Barrow, William Jaworski, Margie Accardo, Pasquale J. TI Head Circumference in Young Children With Autism: The Impact of Different Head Circumference Charts SO JOURNAL OF CHILD NEUROLOGY LA English DT Article DE autism; head circumference; macrocephaly AB The hypothesis that the presence of macrocephaly might vary with the specific growth chart used was tested by using the Nellahus, CDC, and recent Rollins et al revision head circumference charts to plot the head circumferences of 253 children with neurodevelopmental disorders and with ages between 12 to 36 months; of these children, 59 had a diagnosis of autism spectrum disorder. The CDC and Rollins et al head circumference charts identified more cases of macrocephaly and fewer cases of microcephaly than did the older Nellhaus chart but did not significantly differ in their identification of macrocephaly in children with autism. C1 [Morhardt, Duncan R.; Jaworski, Margie] Virginia Commonwealth Univ, Richmond, VA USA. [Barrow, William] Penn State Univ, University Pk, PA 16802 USA. [Accardo, Pasquale J.] Childrens Hosp Richmond, Child Dev Clin, Richmond, VA 23230 USA. RP Accardo, PJ (reprint author), Childrens Hosp Richmond, Child Dev Clin, 3600 West Broad St, Richmond, VA 23230 USA. 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PD MAR PY 2014 VL 29 IS 3 BP 412 EP 414 DI 10.1177/0883073812469827 PG 3 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA AB0WH UT WOS:000331512300019 PM 23334079 ER PT J AU [Anonymous] AF [Anonymous] TI Hospital-Diagnosed Maternal Infections Linked to Increased Autism Risk SO JOURNAL OF PSYCHOSOCIAL NURSING AND MENTAL HEALTH SERVICES LA English DT News Item CR [Anonymous], 2013, HOSPITAL DIAGNOSED M PERMANENTE K, J AUTISM DEV DISORDE NR 2 TC 0 Z9 0 PU SLACK INC PI THOROFARE PA 6900 GROVE RD, THOROFARE, NJ 08086 USA SN 0279-3695 EI 1938-2413 J9 J PSYCHOSOC NURS MEN JI J. Psychosoc. Nurs. Ment. Health Serv. PD MAR PY 2014 VL 52 IS 3 BP 7 EP 7 PG 1 WC Nursing SC Nursing GA AC5ZA UT WOS:000332598300005 ER PT J AU Mitchell, RHB Goldstein, BI AF Mitchell, Rachel H. B. Goldstein, Benjamin I. TI Inflammation in Children and Adolescents With Neuropsychiatric Disorders: A Systematic Review SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Review DE cytokines; inflammation; psychiatric disorders ID AUTISM SPECTRUM DISORDERS; DEFICIT HYPERACTIVITY DISORDER; POSTTRAUMATIC-STRESS-DISORDER; NECROSIS-FACTOR-ALPHA; OBSESSIVE-COMPULSIVE DISORDER; BLOOD MONONUCLEAR-CELLS; C-REACTIVE PROTEIN; SOLUBLE ADHESION MOLECULES; MAJOR DEPRESSIVE DISORDER; FAMILY-BASED ASSOCIATION AB Objective: There has been rapid growth in research regarding inflammation in neuropsychiatric disorders as it relates to youth. We therefore set out to systematically review the literature on inflammation and neuropsychiatric disorders in children and adolescents. Method: A systematic review of the literature was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Studies were included if proinflammatory markers (PIMs) in children and/or adolescents with neuropsychiatric disorders were measured. Results: Sixty-seven studies were included, involving 3,952 youth. Evidence for a proinflammatory state is strongest for autism spectrum disorders (ASD). PIMs are elevated in children and adolescents with major depressive disorder (MDD), bipolar disorder (BD), post-traumatic stress disorder (PTSD), obsessive-compulsive disorder (OCD), Tourette's disorder (TD), attention-deficit/hyperactivity disorder (ADHD), and schizophrenia (SZ). However, the data are inconsistent. Evidence for specific PIMs is equivocal at this stage, although the findings in youth with MDD, BD, and PTSD converge with the extant adult literature in these areas. Definitive conclusions are limited by methodologic factors including cross-sectional and retrospective study design, between-study differences in specific markers and methods of analysis, small sample size, and other sources of heterogeneity. Conclusion: The literature regarding inflammation among children and adolescents with neuropsychiatric disorders represents nearly 4,000 youth. There is preliminary evidence for elevated markers of inflammation in this population. Larger, prospective studies are needed to realize the goal of inflammatory markers informing clinical practice. In the interim, present findings suggest that further examination of this topic is warranted. C1 [Mitchell, Rachel H. B.] Univ Toronto, Toronto, ON M5S 1A1, Canada. [Goldstein, Benjamin I.] Univ Toronto, Sunnybrook Hlth Sci Ctr, Toronto, ON M5S 1A1, Canada. RP Mitchell, RHB (reprint author), Sunnybrook Hlth Sci Ctr, F-53,2075 Bayview Ave, Toronto, ON M4N 3M5, Canada. FU Canadian Institute of Health Research; Depressive and Bipolar Disorder Alternative Treatment Foundation; Heart and Stroke Foundation of Ontario; National Institute of Mental Health; Ontario Mental Health Foundation FX Dr. Goldstein has received grant or research support from the Canadian Institute of Health Research, the Depressive and Bipolar Disorder Alternative Treatment Foundation, the Heart and Stroke Foundation of Ontario, the National Institute of Mental Health, and the Ontario Mental Health Foundation; has served as a consultant to Bristol-Myers Squibb; and has received honoraria from Purdue Pharma. Dr. Mitchell reports no biomedical financial interests or potential conflicts of interest. 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Am. Acad. Child Adolesc. Psychiatr. PD MAR PY 2014 VL 53 IS 3 BP 274 EP 296 DI 10.1016/j.jaac.2013.11.013 PG 23 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA AC3QD UT WOS:000332435400004 PM 24565356 ER PT J AU Frazier, TW Georgiades, S Bishop, SL Hardan, AY AF Frazier, Thomas W. Georgiades, Stelios Bishop, Somer L. Hardan, Antonio Y. TI Behavioral and Cognitive Characteristics of Females and Males With Autism in the Simons Simplex Collection SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE autism spectrum disorder (ASD); behavior problems; cognitive; females; restricted interests ID SEX-DIFFERENCES; SPECTRUM DISORDERS; FOLLOW-UP; CHILDREN; SCALE AB Objective: To examine differences in behavioral symptoms and cognitive functioning between males and females with autism spectrum disorder (ASD). Method: We analyzed data from 2,418 probands with autism (304 females and 2,114 males) included in the Simons Simplex Collection. Sex differences were evaluated across measures of autism symptoms, cognitive and motor functioning, adaptive behavior, and associated behavior problems. Measurement bias was examined using latent variable models of symptoms. Unadjusted and propensity-adjusted analyses were computed to ensure that sex differences were not due to unbalanced sampling. Moderator and mediator analyses evaluated whether sex differences were modified by clinical characteristics or were driven by cognitive ability. Results: Females with ASD had greater social communication impairment, lower levels of restricted interests, lower cognitive ability, weaker adaptive skills, and greater externalizing problems relative to males. Symptom differences could not be accounted for by measurement differences, indicating that diagnostic instruments captured autism similarly in males and females. IQ reductions mediated greater social impairment and reduced adaptive behavior in females with ASD, but did not mediate reductions in restricted interests or increases in irritability. Conclusions: A specific female ASD phenotype is emerging that cannot be accounted for by differential symptom measurement. The present data suggest that the relatively low proportion of high-functioning females may reflect the effect of protective biological factors or may be due to under-identification. Additional carefully accrued samples are needed to confirm the present pattern and to evaluate whether observed sex ratios in high-functioning cases are reduced if female-specific indicators of restricted interests are included. C1 [Frazier, Thomas W.] Cleveland Clin, Ctr Pediat Behav Hlth, Cleveland, OH 44104 USA. [Frazier, Thomas W.] Cleveland Clin, Ctr Autism, Cleveland, OH 44104 USA. [Georgiades, Stelios] McMaster Univ, Hamilton, ON L8S 4L8, Canada. [Bishop, Somer L.] Weill Cornell Med Coll, Ctr Autism & Developing Brain, New York, NY USA. [Hardan, Antonio Y.] Stanford Univ, Stanford, CA 94305 USA. RP Frazier, TW (reprint author), Cleveland Clin, Ctr Autism, 2801 Martin Luther King Jr,DriveCRS 10, Cleveland, OH 44104 USA. EM frazier2@ccf.org FU Simons Foundation Autism Research Initiative (SFARI); National Center for Research Resources [UL1 RR024989]; National Center for Advancing Translational Sciences, National institutes of Health (NIH) FX This work was made possible by a pilot research grant from the Simons Foundation Autism Research Initiative (SFARI) and by funding to the Case Western Reserve University/Cleveland Clinic Clinical and Translational Science Award (CTSA) grant UL1 RR024989 provided by the National Center for Research Resources and the National Center for Advancing Translational Sciences, National institutes of Health (NIH). 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Am. Acad. Child Adolesc. Psychiatr. PD MAR PY 2014 VL 53 IS 3 BP 329 EP 340 DI 10.1016/j.jaac.2013.12.004 PG 12 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA AC3QD UT WOS:000332435400008 PM 24565360 ER PT J AU Frerichs, V AF Frerichs, Victoria TI Autism Breakthrough: The Groundbreaking Method That Has Helped Families All Over the World. SO LIBRARY JOURNAL LA English DT Book Review CR KAUFMAN RK, 2014, AUTISM BREAKTHROUGH NR 1 TC 0 Z9 0 PU REED BUSINESS INFORMATION PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010 USA SN 0363-0277 J9 LIBR J JI Libr. J. PD MAR 1 PY 2014 VL 139 IS 4 BP 105 EP 106 PG 2 WC Information Science & Library Science SC Information Science & Library Science GA AC4LT UT WOS:000332493500207 ER PT J AU Saad, K Abdelrahman, AA Abdel-Raheem, YF Othman, ER Badry, R Othman, HAK Sobhy, KM AF Saad, Khaled Abdelrahman, Ahmed A. Abdel-Raheem, Yasser F. Othman, Essam R. Badry, Reda Othman, Hisham A. K. Sobhy, Karema M. TI Turner syndrome: review of clinical, neuropsychiatric, and EEG status: an experience of tertiary center SO ACTA NEUROLOGICA BELGICA LA English DT Review DE Turner syndrome; ADHD; Autism; Depression; EEG ID VISUOSPATIAL WORKING-MEMORY; X-CHROMOSOME; BRAIN-DEVELOPMENT; GROWTH-HORMONE; PROCESSING DEFICITS; COGNITIVE DEFICITS; PARENTAL ORIGIN; ADULT WOMEN; FRAGILE-X; GIRLS AB We reviewed the clinical, neuropsychiatric, and EEG status of 53 turner syndrome (TS) females, aged 3-16 years, in Assiut university hospitals, Upper Egypt. The diagnosis and care of patients with TS in Egypt is still in the developing stage. Hence this study was undertaken to review the details of patients with TS with respect to the pattern of cognitive, psychiatric, and motor dysfunction. We aimed to provide a comprehensive data about the experience of our center comparable to previous studies, which have been published in this field. This will contribute to a better definition of the neuropsychiatric features that may be specific to TS that allows early and better detection and management of these cases. We found FSIQ and verbal IQ that seem to be at a nearly normal level and a decreased performance IQ. ADHD and autistic symptoms were found in 20.70 and 3.77 % of our cohort, respectively. The motor performance in TS was disturbed, with some neurological deficits present in 17 % (reduced muscle tone and reduced muscle power). In addition, females with TS in our study exhibit social and emotional problems, including anxiety (5.66 %) and depression (11.30 %). The EEG results revealed abnormalities in seven patients (13.20 %). One patient presenting with generalized tonic-clonic seizures showed generalized epileptiform activity, and six patients presenting with intellectual disabilities showed abnormal EEG background activity. C1 [Saad, Khaled; Abdel-Raheem, Yasser F.] Assiut Univ, Dept Pediat, Fac Med, Assiut 71516, Egypt. [Abdelrahman, Ahmed A.; Badry, Reda] Assiut Univ, Dept Neurol & Psychiat, Assiut 71516, Egypt. [Othman, Essam R.] Assiut Univ, Dept Obstet & Gynecol, Assiut 71516, Egypt. [Othman, Hisham A. K.] Assiut Univ, Dept Clin Pathol, Cytogenet Unit, Assiut 71516, Egypt. [Sobhy, Karema M.] Assiut Univ, Dept Publ Hlth, Assiut 71516, Egypt. RP Saad, K (reprint author), Assiut Univ, Dept Pediat, Fac Med, Assiut 71516, Egypt. 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Belg. PD MAR PY 2014 VL 114 IS 1 BP 1 EP 9 DI 10.1007/s13760-013-0264-9 PG 9 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA AC3XC UT WOS:000332453800001 PM 24338760 ER PT J AU Wang, ZL Hong, Y Zou, L Zhong, R Zhu, BB Shen, N Chen, W Lou, J Ke, JT Zhang, T Wang, WP Miao, XP AF Wang, Zhenling Hong, Yuan Zou, Li Zhong, Rong Zhu, Beibei Shen, Na Chen, Wei Lou, Jiao Ke, Juntao Zhang, Ti Wang, Weipeng Miao, Xiaoping TI Reelin Gene Variants and Risk of Autism Spectrum Disorders: An Integrated Meta-Analysis SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS LA English DT Article DE ASD; epidemiology; genetics; polymorphism; RELN gene ID CHINESE HAN POPULATION; ASSOCIATION ANALYSIS; INDIAN POPULATION; RELN; POLYMORPHISMS; SCHIZOPHRENIA; PROTEINS; ALLELES; DISEASE AB Autism spectrum disorder (ASD) is a severe neurological disorder with a high degree of heritability. Reelin gene (RELN), which plays a crucial role in the migration and positioning of neurons during brain development, has been strongly posed as a candidate gene for ASD. Genetic variants in RELN have been investigated as risk factors of ASD in numerous epidemiologic studies but with inconclusive results. To clearly discern the effects of RELN variants on ASD, the authors conducted a meta-analysis integrating case-control and transmission disequilibrium test (TDT) studies published through 2001 to 2013. Odds ratios (ORs) with 95% confidence intervals were used to estimate the associations between three RELN variants (rs736707, rs362691, and GGC repeat variant) and ASD. In overall meta-analysis, the summary ORs for rs736707, rs362691, and GGC repeat variant were 1.11 [95% confidence interval (CI): 0.80-1.54], 0.69 (95% CI: 0.56-0.86), and 1.09 (95% CI: 0.97-1.23), respectively. Besides, positive result was also obtained in subgroup of broadly-defined ASD for rs362691 (OR=0.67, 95% CI: 0.52-0.86). Our meta-analysis revealed that the RELN rs362691, rather than rs736707 or GGC repeat variant, might contribute significantly to ASD risk. (c) 2014 Wiley Periodicals, Inc. C1 [Wang, Zhenling; Zou, Li; Zhong, Rong; Zhu, Beibei; Shen, Na; Chen, Wei; Lou, Jiao; Ke, Juntao; Zhang, Ti; Miao, Xiaoping] Huazhong Univ Sci & Technol, Tongji Med Coll, Sch Publ Hlth, Dept Epidemiol & Biostat, Wuhan 430030, Peoples R China. [Hong, Yuan; Wang, Weipeng] Hubei Maternal & Child Hlth Hosp, Dept Clin Lab, Wuhan 430030, Peoples R China. RP Miao, XP (reprint author), Huazhong Univ Sci & Technol, Dept Epidemiol & Biostat, Wuhan 430030, Peoples R China. 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J. Med. Genet. B PD MAR PY 2014 VL 165 IS 2 BP 192 EP 200 DI 10.1002/ajmg.b.32222 PG 9 WC Genetics & Heredity; Psychiatry SC Genetics & Heredity; Psychiatry GA AA8VX UT WOS:000331374200011 PM 24453138 ER PT J AU Rafetseder, E Perner, J AF Rafetseder, Eva Perner, Josef TI Counterfactual Reasoning: Sharpening Conceptual Distinctions in Developmental Studies SO CHILD DEVELOPMENT PERSPECTIVES LA English DT Article DE counterfactual reasoning; basic conditional reasoning; counterfactual emotions; developmental studies ID FALSE BELIEF; AGE-DIFFERENCES; REGRET; THINKING; RELIEF; CONDITIONALS; EMOTIONS; CHILDREN; AUTISM AB Counterfactual reasoning (CFR)mentally representing what the world would be like now if things had been different in the pastis an important aspect of human cognition and the focus of research in areas such as philosophy, social psychology, and clinical psychology. 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Perspect. PD MAR PY 2014 VL 8 IS 1 BP 54 EP 58 DI 10.1111/cdep.12061 PG 5 WC Psychology, Developmental SC Psychology GA AA7GM UT WOS:000331265600010 ER PT J AU Nguyen, M Tharani, S Rahmani, M Shapiro, M AF Nguyen, Mathew Tharani, Shalini Rahmani, Mariam Shapiro, Michael TI A Review of the Use of Clonidine as a Sleep Aid in the Child and Adolescent Population SO CLINICAL PEDIATRICS LA English DT Editorial Material ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; EXTENDED-RELEASE; DOUBLE-BLIND; PEDIATRICIANS; INSOMNIA; AUTISM; DRUGS C1 [Nguyen, Mathew; Tharani, Shalini; Rahmani, Mariam; Shapiro, Michael] Univ Florida, Gainesville, FL 32606 USA. RP Shapiro, M (reprint author), Univ Florida, Dept Psychiat, Div Child & Adolescent Psychiat, 8491 NW 39th Ave, Gainesville, FL 32606 USA. EM mshapiro@ufl.edu CR [Anonymous], 2012, CAT TTS CLON [Anonymous], 2011, INT GUANF EXT REL TA [Anonymous], 2010, KAPV CLON HYDR EXT R Arnsten AF, 2007, J CHILD ADOL PSYCHOP, V17, P393, DOI 10.1089/cap.2006.0098 Croxtall JD, 2011, PEDIATR DRUGS, V13, P329, DOI 10.2165/11208100-000000000-00000 DELBARRE B, 1971, EUR J PHARMACOL, V13, P356, DOI 10.1016/0014-2999(71)90226-3 Efron D, 2003, PEDIATRICS, V111, P372, DOI 10.1542/peds.111.2.372 FANKHAUSER MP, 1992, J CLIN PSYCHIAT, V53, P77 Feron FJM, 2008, PEDIATR NEUROL, V38, P147, DOI 10.1016/j.pediatrneurol.2007.09.016 Ghanizadeh A, 2008, J CLIN PSYCHOPHARM, V28, P725, DOI 10.1097/JCP.0b013e31818ce741 Gutgesell H, 1999, J AM ACAD CHILD PSY, V38, P1047, DOI 10.1097/00004583-199908000-00022 Hollway JA, 2011, RES DEV DISABIL, V32, P939, DOI 10.1016/j.ridd.2010.12.035 HOLMAN RB, 1971, BRIT J PHARMACOL, V43, P685 HORACEK HJ, 1994, J AM ACAD CHILD PSY, V33, P1210, DOI 10.1097/00004583-199410000-00022 HUNT RD, 1985, J AM ACAD CHILD PSY, V24, P617, DOI 10.1016/S0002-7138(09)60065-0 Ingrassia A, 2005, EUR CHILD ADOLES PSY, V14, P34, DOI 10.1007/s00787-005-0424-4 Kappagoda C, 1998, J PAEDIATR CHILD H, V34, P508 KEMPH JP, 1993, J AM ACAD CHILD PSY, V32, P577, DOI 10.1097/00004583-199305000-00013 Klein-Schwartz W, 2002, ARCH PEDIAT ADOL MED, V156, P392 LOWENTHAL DT, 1988, CLIN PHARMACOKINET, V14, P287, DOI 10.2165/00003088-198814050-00002 Ming X, 2008, BRAIN DEV-JPN, V30, P454, DOI 10.1016/j.braindev.2007.12.007 Owens Judith A, 2005, J Clin Sleep Med, V1, P49 Owens JA, 2010, SLEEP MED, V11, P692, DOI 10.1016/j.sleep.2009.11.015 Owens JA, 2001, PEDIATRICS, V108, DOI 10.1542/peds.108.3.e51 Owens JA, 2003, PEDIATRICS, V111, pE628, DOI 10.1542/peds.111.5.e628 Pliszka S, 2007, J AM ACAD CHILD PSY, V46, P894, DOI 10.1097/chi.0b013e318054e724 Prince JB, 1996, J AM ACAD CHILD PSY, V35, P599, DOI 10.1097/00004583-199605000-00014 Spiller HA, 2005, J PEDIATR-US, V146, P263, DOI 10.1016/j.jpeds.2004.09.027 Stein MA, 1999, J CHILD ADOL PSYCHOP, V9, P157, DOI 10.1089/cap.1999.9.157 STEINGARD R, 1993, J AM ACAD CHILD PSY, V32, P350, DOI 10.1097/00004583-199303000-00016 Trommer BL, 1988, ANN NEUROL, V24, P325 WILENS TE, 1994, J AM ACAD CHILD PSY, V33, P424, DOI 10.1097/00004583-199403000-00018 NR 32 TC 1 Z9 1 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0009-9228 EI 1938-2707 J9 CLIN PEDIATR JI Clin. Pediatr. PD MAR PY 2014 VL 53 IS 3 BP 211 EP 216 DI 10.1177/0009922813502123 PG 6 WC Pediatrics SC Pediatrics GA AA8TY UT WOS:000331369100002 PM 24027233 ER PT J AU Braddock, B Twyman, K AF Braddock, Barbara Twyman, Kimberly TI Access to Treatment for Toddlers With Autism Spectrum Disorders SO CLINICAL PEDIATRICS LA English DT Article DE autism spectrum disorders; early intervention ID YOUNG-CHILDREN; EARLY INTERVENTION; INFANTS; FACE AB New research shows that intensive and early intervention (EI) has the potential to change brain function in young children with Autism Spectrum Disorders (ASD). Despite the positive benefit of EI, many families (n = 16) reported difficulties accessing EI services following an ASD diagnosis at the intensity viewed necessary for optimal child outcome. Parents reported that on average they secured 6.81 hours of services per month and that limited access to EI services led to increased parental stress at a time when a new ASD diagnosis was often overwhelming. Findings are discussed in terms of support to families who are experiencing difficulties accessing care after new ASD diagnosis. C1 [Braddock, Barbara; Twyman, Kimberly] St Louis Univ, Sch Med, St Louis, MO 63104 USA. RP Braddock, B (reprint author), St Louis Univ, Sch Med, Knights Columbus Dev Ctr, SSM Cardinal Glennon Childrens Med Ctr, 1465 S Grand Blvd, St Louis, MO 63104 USA. EM bbraddoc@slu.edu FU John Allan Love Charitable Foundation; CVS Caremark Community Grant FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was partially supported by John Allan Love Charitable Foundation and CVS Caremark Community Grant. CR American Academy of Pediatrics, 2012, UND AUT SPECTR DIS American Academy of Pediatrics, 2012, AUT CAR CHILDR AUT S American Academy of Pediatrics, 2012, AUT SPECTR DIS WHAT American Psychiatric Association, 2000, DIAGN STAT MAN MENT Corsello CM, 2005, INFANT YOUNG CHILD, V18, P74 Duby JC, 2006, PEDIATRICS, V118, P405, DOI 10.1542/peds.2006-1231 Dawson G, 2010, PEDIATRICS, V125, pE17, DOI 10.1542/peds.2009-0958 Dawson G, 2012, J AM ACAD CHILD PSY, V51, P1150, DOI 10.1016/j.jaac.2012.08.018 Dawson G, 2002, CHILD DEV, V73, P700, DOI 10.1111/1467-8624.00433 TOMASELLO M, 1986, CHILD DEV, V57, P1454, DOI 10.1111/j.1467-8624.1986.tb00470.x Iverson JM, 2007, J AUTISM DEV DISORD, V37, P158, DOI 10.1007/s10803-006-0339-z McGee J. 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Holifield, Chloe Iannuzzi, Dorothea Hanson, Ellen Ware, Janice Nelson, Linda P. TI Addressing Dental Fear in Children With Autism Spectrum Disorders: A Randomized Controlled Pilot Study Using Electronic Screen Media SO CLINICAL PEDIATRICS LA English DT Article DE children; autism spectrum disorders; electronic screen media; dental fear ID NEEDS; DISTRACTION; INSTRUCTION; MANAGEMENT; DENTISTRY; PATIENT; ANXIETY; CARE; PAIN AB Background. Dental care is a significant unmet health care need for children with autism spectrum disorders (ASD). Many children with ASD do not receive dental care because of fear associated with dental procedures; oftentimes they require general anesthesia for regular dental procedures, placing them at risk of associated complications. Many children with ASD have a strong preference for visual stimuli, particularly electronic screen media. The use of visual teaching materials is a fundamental principle in designing educational programs for children with ASD. Purpose. To determine if an innovative strategy using 2 types of electronic screen media was feasible and beneficial in reducing fear and uncooperative behaviors in children with ASD undergoing dental visits. Methods. We conducted a randomized controlled trial at Boston Children's Hospital dental clinic. Eighty (80) children aged 7 to 17 years with a known diagnosis of ASD and history of dental fear were enrolled in the study. Each child completed 2 preventive dental visits that were scheduled 6 months apart (visit 1 and visit 2). After visit 1, subjects were randomly assigned to 1 of 4 groups: (1) group A, control (usual care); (2) group B, treatment (video peer modeling that involved watching a DVD recording of a typically developing child undergoing a dental visit); (3) group C, treatment (video goggles that involved watching a favorite movie during the dental visit using sunglass-style video eyewear); and (4) group D, treatment (video peer modeling plus video goggles). Subjects who refused or were unable to wear the goggles watched the movie using a handheld portable DVD player. During both visits, the subject's level of anxiety and behavior were measured using the Venham Anxiety and Behavior Scales. Analyses of variance and Fisher's exact tests compared baseline characteristics across groups. Using intention to treat approach, repeated measures analyses were employed to test whether the outcomes differed significantly: (1) between visits 1 and 2 within each group and (2) between each intervention group and the control group over time (an interaction). Results. Between visits 1 and 2, mean anxiety and behavior scores decreased significantly by 0.8 points (P = .03) for subjects within groups C and D. Significant changes were not observed within groups A and B. Mean anxiety and behavior scores did not differ significantly between groups over time, although group A versus C pairwise comparisons showed a trend toward significance (P = .06). Conclusion. These findings suggest that certain electronic screen media technologies may be useful tools for reducing fear and uncooperative behaviors among children with ASD undergoing dental visits. Further studies are needed to assess the efficacy of these strategies using larger sample sizes. Findings from future studies could be relevant for nondental providers who care for children with ASD in other medical settings. C1 [Isong, Inyang A.; Hanson, Ellen; Ware, Janice; Nelson, Linda P.] Boston Childrens Hosp, Boston, MA 02115 USA. [Isong, Inyang A.] Harvard Univ, Sch Med, Boston, MA USA. [Rao, Sowmya R.] Univ Massachusetts, Sch Med, Worcester, MA USA. [Rao, Sowmya R.] Ctr Hlth Qual Outcomes & Econ Res, Bedford, VA USA. [Holifield, Chloe] Masachusetts Gen Hosp, Boston, MA USA. [Iannuzzi, Dorothea] Harvard Vanguard Med Associates, Concord, MA USA. [Iannuzzi, Dorothea] Simmons Coll, Sch Social Work, Boston, MA 02115 USA. [Nelson, Linda P.] Harvard Univ, Sch Dent Med, Boston, MA 02115 USA. 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Pediatr. PD MAR PY 2014 VL 53 IS 3 BP 230 EP 237 DI 10.1177/0009922813517169 PG 8 WC Pediatrics SC Pediatrics GA AA8TY UT WOS:000331369100005 PM 24391123 ER PT J AU Grabrucker, S Proepper, C Mangus, K Eckert, M Chhabra, R Schmeisser, MJ Boeckers, TM Grabrucker, AM AF Grabrucker, Stefanie Proepper, Christian Mangus, Katharina Eckert, Matti Chhabra, Resham Schmeisser, Michael J. Boeckers, Tobias M. Grabrucker, Andreas M. TI The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation SO EXPERIMENTAL NEUROLOGY LA English DT Article DE SCZ; Synapse; Shank3; hnRNP; Autism; PSD; Nuclear shuttling; LRRTM1; Synaptotagmin 1 ID NF-KAPPA-B; POSTSYNAPTIC DENSITY; MESSENGER-RNA; ALZHEIMERS-DISEASE; GENE-EXPRESSION; CHROMOSOME 22Q; HNRNP A2; SUSCEPTIBILITY; NEURONS; SHANK AB Recently, mutations in ProSAP2/Shank3 have been discovered as one of the genetic factors for schizophrenia (SCZ). Here, we show that the postsynaptic density protein ProSAP2/Shank3 undergoes activity dependent synapse-to-nucleus shuttling in hippocampal neurons. Our study shows that the de novo mutation (R1117X) in ProSAP2/Shank3 that was identified in a patient with SCZ leads to an accumulation of mutated ProSAP2/Shank3 within the nucleus independent of synaptic activity. Furthermore, we identified novel nuclear ProSAP2/Shank3 interaction partners. Nuclear localization of mutated ProSAP2/Shank3 alters transcription of several genes, among them already identified genetic risk factors for SCZ such as Synaptotagmin 1 and LRRTM1. Comparing the SCZ mutation of ProSAP2/Shank3 to the knockdown of ProSAP2/Shank3 we found some shared features such as reduced synaptic density in neuronal cultures. However, hippocampal neurons expressing the ProSAP2/Shank3 SCZ mutation furthermore show altered E/I ratio and reduced dendritic branching. Thus, we conclude that the uncoupling of ProSAP2/Shank3 nuclear shuttling from synaptic activity may represent a molecular mechanism that contributes to the pathology of SCZ in patients with mutations in ProSAP2/Shank3. (C) 2013 Elsevier Inc. All rights reserved. C1 [Grabrucker, Stefanie; Mangus, Katharina; Eckert, Matti; Chhabra, Resham; Grabrucker, Andreas M.] Univ Ulm, WG Mol Anal Synaptopathies, Dept Neurol, D-89081 Ulm, Germany. [Grabrucker, Stefanie; Proepper, Christian; Schmeisser, Michael J.; Boeckers, Tobias M.; Grabrucker, Andreas M.] Univ Ulm, Inst Anat & Cell Biol, D-89081 Ulm, Germany. RP Grabrucker, AM (reprint author), Univ Ulm, WG Mol Anal Synaptopathies, Albert Einstein Allee 11, D-89081 Ulm, Germany. EM andreas.grabrucker@uni-ulm.de FU DFG; BMBF; Baustein 3.2 [L.SBN.0081, L.SBN.0083] FX The authors gratefully acknowledge the professional technical assistance of U. Pika-Hartlaub. We would also like to acknowledge the assistance of the Core Facility Mass Spectrometric Proteomics of the University Clinics Hamburg-Eppendorf (UKE) supported in part by the DFG and the BMBF. AMG and MJS are supported by Baustein 3.2 (L.SBN.0081 to MJS, L.SBN.0083 to AMG). SG, RC and ME are members of the International Graduate School in Molecular Medicine at Ulm University. 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TI Formative Evaluation of an ABA Outreach Training Program for Parents of Children With Autism in Remote Areas SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE autism spectrum disorders; behavior; early; intervention; training; parent; applied behavior analysis ID INTENSIVE BEHAVIORAL TREATMENT; SPECTRUM DISORDERS; DEVELOPMENTAL-DISABILITIES; FAMILIES; EDUCATION; INTERVENTIONS; FATHERS; IMPLEMENTATION; TELEMEDICINE; INDIVIDUALS AB Families in rural or remote areas have limited access to evidence-based intervention for their children with autism. Using web-based training and telemedicine technology, the current study investigated the feasibility of training seven parents to implement Applied Behavior Analysis (ABA) strategies with their children with autism. In this exploratory formative evaluation, parents increased their knowledge of ABA strategies and concepts by an average of 39 percentage points, and improved their implementation of ABA strategies with their children by an average of 41 percentage points. A total of 9,052 driving miles were saved across the four families. Implications for families living in remote areas, improvements in the training program, and future research directions are discussed. C1 [Heitzman-Powell, Linda S.] Univ Kansas, Med Ctr, Kansas City, KS 66160 USA. [Buzhardt, Jay; Miller, Todd M.] Univ Kansas, Kansas City, KS 66160 USA. [Rusinko, Lisa C.] Summit Ctr Child Dev, Kansas City, MO USA. RP Heitzman-Powell, LS (reprint author), Univ Kansas, Med Ctr, Ctr Child Hlth & Dev, 3901 Rainbow Blvd Mailstop 4003, Kansas City, KS 66160 USA. 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Lee, Eunjoo TI Personnel Preparation Practices in ASD: A Follow-Up Analysis of Contemporary Practices SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE personnel preparation; teachers; autism spectrum disorders; evidence-based practices ID AUTISM SPECTRUM DISORDERS; YOUNG-CHILDREN; SCHOOL AB The increased attention given to the implementation of personnel preparation programs in the field of autism spectrum disorders (ASD) has directly paralleled the significant increase in the number of students identified with ASD. For this study, we sought to analyze key aspects of programs for professionals who work with students with ASD. In addition to a detailed analysis of multiple demographic characteristics related to these programs (e.g., length of time program offered, level of higher education at which the program is offered, number of courses within a program, field experiences, online options), a critical focus in the research was assessing the reliance on evidence-based practices by these training programs. We also examined characteristics and practices relevant to the training of behavior analysts through the Behavior Analyst Certification Board's (BACB) approved coursework. C1 [Barnhill, Gena P.; Sumutka, Bianca; Polloway, Edward A.] Lynchburg Coll, Lynchburg, VA 24501 USA. [Lee, Eunjoo] Cheong Ju Natl Univ Educ, Cheongju, South Korea. RP Barnhill, GP (reprint author), Lynchburg Coll, Sch Educ & Human Dev, Lynchburg, VA 24501 USA. EM Barnhill@lynchburg.edu CR Barnhill GP, 2011, FOCUS AUTISM DEV DIS, V26, P75, DOI 10.1177/1088357610378292 Downs RC, 2010, EDUC TRAIN AUTISM DE, V45, P150 Eikeseth S, 2002, BEHAV MODIF, V26, P49, DOI 10.1177/0145445502026001004 Grey Ian M, 2005, J Intellect Disabil, V9, P209, DOI 10.1177/1744629505056695 Hess KL, 2008, J AUTISM DEV DISORD, V38, P961, DOI 10.1007/s10803-007-0470-5 Howard JS, 2005, RES DEV DISABIL, V26, P359, DOI 10.1016/j.ridd.2004.09.005 Lerman DC, 2004, SCHOOL PSYCHOL REV, V33, P510 McGee G. G., 2005, HDB AUTISM PERVASIVE, V2, P1123 Mesibov GB, 2011, AUTISM, V15, P114, DOI 10.1177/1362361309348070 Metz B., 2005, CONTROVERSIAL THERAP, P237 National Autism Center, 2009, FIND CONCL National Autism Center, 2009, NAT STAND REP National Autism Center, 2009, EV BAS PRACT AUT SCH National Research Council, 2001, ED CHILDR AUT COMM E Odom S. L., 2010, PREVENTING SCH FAILU, V54, P275, DOI DOI 10.1080/10459881003785506 Shook GL, 2004, BEHAV ANALYST, V27, P67 Simpson R. 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Becca TI The Effect of a Platform Swing on the Independent Work Behaviors of Children With Autism Spectrum Disorders SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES LA English DT Article DE autism spectrum disorders; integration; sensory; self-stimulatory (STIMS) behavior; intervention; behavior ID SENSORY INTEGRATION INTERVENTION; OCCUPATIONAL-THERAPY; SENSORIMOTOR; EVOLUTION AB A randomized pretest-posttest control group design was utilized to measure the effects of a platform swing on independent work behaviors of 30 children with Autism Spectrum Disorders (ASD). Participants engaged in two 5-min intervals of independent work. Between the intervals, participants in the treatment group received 5 min of vestibular stimulation using a platform swing and children in the control group watched a video. No significant differences were evidenced between the treatment and control groups on engagement, on-task behavior, stereotyped/repetitive behavior, or out-of-seat behavior. Changes noted for individual participants could not be linked to age, diagnosis, or sensory profile patterns. C1 [Murdock, Linda C.] Univ Montevallo, Montevallo, AL 35115 USA. [Dantzler, John A.] Univ Alabama, Tuscaloosa, AL USA. [Walker, Anne N.; Wood, L. Becca] Mitchells Pl, Birmingham, AL USA. RP Murdock, LC (reprint author), Univ Montevallo, Dept CSD, Stn 6720, Montevallo, AL 35115 USA. EM murdocklc@montevallo.edu CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Ayres A. 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Hanratty, Laura A. TI PRODUCING MEANINGFUL IMPROVEMENTS IN PROBLEM BEHAVIOR OF CHILDREN WITH AUTISM VIA SYNTHESIZED ANALYSES AND TREATMENTS SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; compliance; delay tolerance; functional analysis; open-ended interviews; functional communication; severe problem behavior; social validity ID MOTIVATION ASSESSMENT SCALE; FUNCTIONAL-ANALYSIS OUTCOMES; DESTRUCTIVE BEHAVIOR; SELF-CONTROL; COMMUNICATION; REINFORCEMENT; RELIABILITY; EXTINCTION; VALIDITY; INTERVENTION AB Problem behaviors like self-injury, aggression, or disruption will likely require intervention at some point in the life of a person diagnosed with autism. Behavioral intervention has been proven to be effective for addressing these problems, especially when a functional assessment is conducted. Comprehensive treatment for problem behavior is, however, often fractured across studies, resulting in a dearth of studies that show socially validated improvements in these problem behaviors or illustrate the assessment and treatment process from start to finish. In this article, we describe an effective, comprehensive, and parent-validated functional assessment and treatment process for the severe problem behaviors of 3 children with autism. After an 8-to 14-week outpatient clinic consultation, no problem behavior was observed at the clinic and in the home. Furthermore, behavior that did not occur during baseline (e.g., functional communication, delay and denial tolerance, and compliance with instructions) occurred with regularity. C1 [Hanley, Gregory P.; Jin, C. Sandy; Vanselow, Nicholas R.; Hanratty, Laura A.] Western New England Univ, Springfield, MA 01119 USA. RP Hanley, GP (reprint author), Western New England Univ, Dept Psychol, 1215 Wilbraham Rd, Springfield, MA 01119 USA. 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PD SPR PY 2014 VL 47 IS 1 BP 16 EP 36 DI 10.1002/jaba.106 PG 21 WC Psychology, Clinical SC Psychology GA AC3HW UT WOS:000332408900003 PM 24615474 ER PT J AU Jones, J Lerman, DC Lechago, S AF Jones, JoAnna Lerman, Dorothea C. Lechago, Sarah TI ASSESSING STIMULUS CONTROL AND PROMOTING GENERALIZATION VIA VIDEO MODELING WHEN TEACHING SOCIAL RESPONSES TO CHILDREN WITH AUTISM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE generalization; social skills; video viewing ID SCRIPT-FADING PROCEDURE; SOCIODRAMATIC PLAY; NATURAL SETTINGS; SKILLS; STORIES AB We taught social responses to young children with autism using an adult as the recipient of the social interaction and then assessed generalization of performance to adults and peers who had not participated in the training. Although the participants' performance was similar across adults, responding was less consistent with peers, and a subsequent probe suggested that the recipient of the social behavior (adults vs. peers) controlled responding. We then evaluated the effects of having participants observe a video of a peer engaged in the targeted social behavior with another peer who provided reinforcement for the social response. Results suggested that certain irrelevant stimuli (adult vs. peer recipient) were more likely to exert stimulus control over responding than others (setting, materials) and that video viewing was an efficient way to promote generalization to peers. C1 [Jones, JoAnna] TEXANA, Childrens Ctr Autism, Rosenberg, TX USA. [Lerman, Dorothea C.; Lechago, Sarah] Univ Houston Clear Lake, Houston, TX 77058 USA. RP Lerman, DC (reprint author), Univ Houston Clear Lake, Dept Psychol, 2700 Bay Area Blvd,MC 245, Houston, TX 77058 USA. EM lerman@uhcl.edu CR Charlop M. H., 2010, ED TREATMENT CHILDRE, V33, P371, DOI DOI 10.1353/ETC.0.0104 CHARLOP MH, 1985, J APPL BEHAV ANAL, V18, P155, DOI 10.1901/jaba.1985.18-155 CHARLOP MH, 1989, J APPL BEHAV ANAL, V22, P275, DOI 10.1901/jaba.1989.22-275 Charlop-Christy M.H., 2003, EDUC TREAT CHILD, V26, P108 Delano M, 2006, J POSIT BEHAV INTERV, V8, P29, DOI 10.1177/10983007060080010501 DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 Ducharme DE, 1997, J APPL BEHAV ANAL, V30, P639, DOI 10.1901/jaba.1997.30-639 FOXX RM, 1986, J APPL BEHAV ANAL, V19, P299, DOI 10.1901/jaba.1986.19-299 Gena A, 1996, J APPL BEHAV ANAL, V29, P291, DOI 10.1901/jaba.1996.29-291 GOLDSTEIN H, 1992, J APPL BEHAV ANAL, V25, P265, DOI 10.1901/jaba.1992.25-265 HALLE JW, 1991, J APPL BEHAV ANAL, V24, P579, DOI 10.1901/jaba.1991.24-579 KIRBY KC, 1988, BEHAV ANALYST, V11, P115 KOEGEL RL, 1977, J APPL BEHAV ANAL, V10, P1, DOI 10.1901/jaba.1977.10-1 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 Leaf JB, 2012, J APPL BEHAV ANAL, V45, P281, DOI 10.1901/jaba.2012.45-281 Leaf JB, 2010, RES AUTISM SPECT DIS, V4, P186, DOI 10.1016/j.rasd.2009.09.003 Marzullo-Kerth D, 2011, J APPL BEHAV ANAL, V44, P279, DOI 10.1901/jaba.2011.44-279 MATSON JL, 1990, J APPL BEHAV ANAL, V23, P227, DOI 10.1901/jaba.1990.23-227 RINCOVER A, 1975, J APPL BEHAV ANAL, V8, P235, DOI 10.1901/jaba.1975.8-235 Sarokoff RA, 2001, J APPL BEHAV ANAL, V34, P81, DOI 10.1901/jaba.2001.34-81 THORP DM, 1995, J AUTISM DEV DISORD, V25, P265, DOI 10.1007/BF02179288 Williams G, 2000, J APPL BEHAV ANAL, V33, P627, DOI 10.1901/jaba.2000.33-627 Woods J., 2006, ED TREATMENT CHILDRE, V29, P437 NR 24 TC 1 Z9 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-8855 EI 1938-3703 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD SPR PY 2014 VL 47 IS 1 BP 37 EP 50 DI 10.1002/jaba.81 PG 14 WC Psychology, Clinical SC Psychology GA AC3HW UT WOS:000332408900004 PM 24114657 ER PT J AU Sy, JR Donaldson, JM Vollmer, TR Pizarro, E AF Sy, Jolene R. Donaldson, Jeanne M. Vollmer, Timothy R. Pizarro, Eliana TI AN EVALUATION OF FACTORS THAT INFLUENCE CHILDREN'S INSTRUCTION FOLLOWING SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE instructional control; instructional strategies; stimulus control; discrimination ID STIMULUS OVERSELECTIVITY; RETARDED-CHILDREN; BEHAVIOR; AUTISM; REINFORCEMENT; DISABILITIES; REQUESTS; STUDENTS AB Behavior that resembles instruction following might sometimes be under stimulus control of extraneous variables. We evaluated the effects of some of these variables (i.e., presence of relevant objects, associations between instructions and object sets) with 3 children with intellectual disabilities. In Experiment 1, we assessed whether subjects were more likely to follow instructions that required object manipulation and whether subjects were more likely to follow these instructions when only relevant objects were present. All subjects were more likely to follow instructions that required object manipulation when only relevant objects were present. In Experiment 2, we evaluated whether instruction following would be less likely if the same object set was associated with multiple instructions, and found this to be the case for 2 of 2 subjects. Findings highlight the need to train instruction following under different conditions to ensure that responding comes under stimulus control of the instructions. C1 [Sy, Jolene R.] St Louis Univ, St Louis, MO 63103 USA. [Donaldson, Jeanne M.] Johns Hopkins Univ, Sch Med, Baltimore, MD 21218 USA. [Donaldson, Jeanne M.] Kennedy Krieger Inst, Baltimore, MD 21205 USA. [Vollmer, Timothy R.; Pizarro, Eliana] Univ Florida, Gainesville, FL 32611 USA. RP Sy, JR (reprint author), St Louis Univ, Sch Social Work, 3550 Lindell Blvd, St Louis, MO 63103 USA. 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Appl. Behav. Anal. PD SPR PY 2014 VL 47 IS 1 BP 101 EP 112 DI 10.1002/jaba.94 PG 12 WC Psychology, Clinical SC Psychology GA AC3HW UT WOS:000332408900008 PM 24127397 ER PT J AU Kelly, MA Roscoe, EM Hanley, GP Schlichenmeyer, K AF Kelly, Maureen A. Roscoe, Eileen M. Hanley, Gregory P. Schlichenmeyer, Kevin TI EVALUATION OF ASSESSMENT METHODS FOR IDENTIFYING SOCIAL REINFORCERS SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE attention; autism; preference assessment; reinforcer assessment; social reinforcers ID PROBLEM BEHAVIOR; PREFERENCE ASSESSMENTS; DESCRIPTIVE ANALYSIS; STIMULUS PREFERENCE; FUNCTIONAL-ANALYSIS; JOINT ATTENTION; CHILDREN; AUTISM; CONTINGENCIES; CONSEQUENCES AB Although researchers have evaluated assessment methods for identifying preferred tangible and edible items for children with developmental disabilities, few have evaluated assessment methods for identifying preferred topographies of attention. In the current study, indirect and direct assessments were conducted to identify 7 topographies of attention to include in subsequent preference and reinforcer assessments. Two different assessment formats were evaluated until reliable results were achieved with 1 of them. In both formats, a therapist presented photos that depicted the topographies of attention included in the stimulus array, and a control card (resulting in no consequence) was included. After evaluation of the 2 formats, a reinforcer assessment was conducted with a socially relevant target behavior (i.e., mands) to determine the predictive validity of the preference assessments. C1 [Kelly, Maureen A.; Roscoe, Eileen M.; Hanley, Gregory P.; Schlichenmeyer, Kevin] Western New England Univ, Springfield, MA USA. [Kelly, Maureen A.; Roscoe, Eileen M.] New England Ctr Children, Southborough, MA 01772 USA. [Schlichenmeyer, Kevin] Univ Massachusetts, Sch Med, Shriver Ctr, Amherst, MA 01003 USA. RP Kelly, MA (reprint author), New England Ctr Children, 33 Turnpike Rd, Southborough, MA 01772 USA. EM mkelly@necc.org CR American Psychiatric Association, 2000, DIAGNOSTIC AND STATI Balla D. A., 2008, VINELAND ADAPTIVE BE Centers for Disease Control and Prevention ( CDC), 2012, MMWR-MORBID MORTAL W, V58, P1 Charlop-Christy MH, 2002, J APPL BEHAV ANAL, V35, P213, DOI 10.1901/jaba.2002.35-213 CICCHETTI DV, 1981, AM J MENT DEF, V86, P127 Cote CA, 2007, J APPL BEHAV ANAL, V40, P157, DOI 10.1901/jaba.2007.177-05 Cummings AR, 2009, J APPL BEHAV ANAL, V42, P57, DOI 10.1901/jaba.2009.42-57 Dawson G, 1998, J AUTISM DEV DISORD, V28, P479, DOI 10.1023/A:1026043926488 DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519 Dempsey C. M., 2007, ANALYSIS OF MAINTAIN Dube WV, 2004, BEHAV ANALYST, V27, P197 DURAND VM, 1992, J APPL BEHAV ANAL, V25, P777, DOI 10.1901/jaba.1992.25-777 Durand VM, 1999, J APPL BEHAV ANAL, V32, P247, DOI 10.1901/jaba.1999.32-247 FERSTER CB, 1961, CHILD DEV, V32, P437, DOI 10.1111/j.1467-8624.1961.tb05042.x FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Fisher WW, 2004, J APPL BEHAV ANAL, V37, P171, DOI 10.1901/jaba.2004.37-171 Graff RB, 2006, J APPL BEHAV ANAL, V39, P131, DOI 10.1901/jaba.2006.32-05 Hanley G. P., 2010, BEHAV FDN AUTISM INT, P233 Hanley GP, 2005, J APPL BEHAV ANAL, V38, P51, DOI 10.1901/jaba.2005.6-04 Hanley GP, 2006, J APPL BEHAV ANAL, V39, P189, DOI 10.1901/jaba.2006.163-04 Hanley GP, 2007, J APPL BEHAV ANAL, V40, P277, DOI 10.1901/jaba.2007.57-06 Hanley GP, 2003, J APPL BEHAV ANAL, V36, P147, DOI 10.1901/jaba.2003.36-147 Hanley GP, 1999, J APPL BEHAV ANAL, V32, P419, DOI 10.1901/jaba.1999.32-419 Jones W, 2008, ARCH GEN PSYCHIAT, V65, P946, DOI 10.1001/archpsyc.65.8.946 Klin A, 2009, NATURE, V459, P257, DOI 10.1038/nature07868 Klin A, 2002, AM J PSYCHIAT, V159, P895, DOI 10.1176/appi.ajp.159.6.895 Kodak T, 2007, J APPL BEHAV ANAL, V40, P167, DOI 10.1901/jaba.2007.43-06 LANCIONI GE, 1982, J APPL BEHAV ANAL, V15, P17, DOI 10.1901/jaba.1982.15-17 Layer SA, 2008, J APPL BEHAV ANAL, V41, P25, DOI 10.1901/jaba.2008.41-25 Lindberg JS, 2003, J APPL BEHAV ANAL, V36, P1, DOI 10.1901/jaba.2003.36-1 LOVAAS OI, 1966, J EXP CHILD PSYCHOL, V4, P109, DOI 10.1016/0022-0965(66)90011-7 McKerchar PM, 2004, J APPL BEHAV ANAL, V37, P431, DOI 10.1901/jaba.2004.37-431 Nuernberger JE, 2012, BEHAV INTERVENT, V27, P33, DOI 10.1002/bin.1336 PACE GM, 1985, J APPL BEHAV ANAL, V18, P249, DOI 10.1901/jaba.1985.18-249 PARSONSO.BS, 1974, J APPL BEHAV ANAL, V7, P427, DOI 10.1901/jaba.1974.7-427 Penrod B, 2008, J APPL BEHAV ANAL, V41, P177, DOI 10.1901/jaba.2008.41-177 Piazza CC, 1996, J APPL BEHAV ANAL, V29, P1, DOI 10.1901/jaba.1996.29-1 Piazza CC, 1999, J APPL BEHAV ANAL, V32, P437, DOI 10.1901/jaba.1999.32-437 Roane HS, 1998, J APPL BEHAV ANAL, V31, P605, DOI 10.1901/jaba.1998.31-605 Roane HS, 2001, J APPL BEHAV ANAL, V34, P145, DOI 10.1901/jaba.2001.34-145 Roscoe EM, 1999, J APPL BEHAV ANAL, V32, P479, DOI 10.1901/jaba.1999.32-479 Roscoe EM, 2010, J APPL BEHAV ANAL, V43, P723, DOI 10.1901/jaba.2010.43-723 Smaby K, 2007, BEHAV INTERVENT, V22, P311, DOI 10.1002/bin.242 Taylor BA, 2008, J APPL BEHAV ANAL, V41, P377, DOI 10.1901/jaba.2008.41-377 Tessing JL, 2006, J APPL BEHAV ANAL, V39, P501, DOI 10.1901/jaba.2006.56-05 Thompson RH, 2001, J APPL BEHAV ANAL, V34, P169, DOI 10.1901/jaba.2001.34-169 VANHOUTEN R, 1982, J APPL BEHAV ANAL, V15, P65, DOI 10.1901/jaba.1982.15-65 Vollmer TR, 2001, J APPL BEHAV ANAL, V34, P241, DOI 10.1901/jaba.2001.34-241 VOLLMER TR, 1994, J APPL BEHAV ANAL, V27, P331, DOI 10.1901/jaba.1994.27-331 NR 49 TC 1 Z9 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-8855 EI 1938-3703 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD SPR PY 2014 VL 47 IS 1 BP 113 EP 135 DI 10.1002/jaba.107 PG 23 WC Psychology, Clinical SC Psychology GA AC3HW UT WOS:000332408900009 PM 24604393 ER PT J AU Shillingsburg, MA Bowen, CN Valentino, AL Pierce, LE AF Shillingsburg, M. Alice Bowen, Crystal N. Valentino, Amber L. Pierce, Laura E. TI MANDS FOR INFORMATION USING "WHO?" AND "WHICH?" IN THE PRESENCE OF ESTABLISHING AND ABOLISHING OPERATIONS SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE mands for information; establishing operation; abolishing operation; generalization ID TEACHING-CHILDREN; ASK QUESTIONS; AUTISM; ADOLESCENTS; BEHAVIOR AB Treatments designed to teach mands for information have included prompting and differential reinforcement, as well as procedures to manipulate the relevant establishing operation (EO). However, previous studies have not included relevant abolishing operation (AO) conditions to ensure that the mand is under relevant antecedent control. Data on listener responses (i.e., use of the information) are also absent in the literature. The current study shows differential responding under EO and AO conditions and reports listener responses that demonstrate use of the provided information. Three participants, diagnosed with an autism spectrum disorder, learned to mand for information using "who?" and "which?" questions exclusively under EO conditions. In addition, each participant responded to the information provided to access a preferred item. Generalization of the "which?" mand for information was also demonstrated across novel stimuli. C1 [Shillingsburg, M. Alice; Bowen, Crystal N.; Valentino, Amber L.; Pierce, Laura E.] Marcus Autism Ctr, Atlanta, GA 30329 USA. [Shillingsburg, M. Alice] Emory Univ, Sch Med, Atlanta, GA 30322 USA. RP Shillingsburg, MA (reprint author), Marcus Autism Ctr, 1920 Briarcliff Rd NE, Atlanta, GA 30329 USA. EM alice.shillingsburg@choa.org CR Betz AM, 2010, RES AUTISM SPECT DIS, V4, P501, DOI 10.1016/j.rasd.2009.11.007 BROWN R, 1968, J VERB LEARN VERB BE, V7, P279, DOI 10.1016/S0022-5371(68)80002-7 Endicott K, 2007, RES AUTISM SPECT DIS, V1, P210, DOI 10.1016/j.rasd.2006.10.003 HUNG DW, 1977, J BEHAV THER EXP PSY, V8, P237, DOI 10.1016/0005-7916(77)90061-1 Ingvarsson ET, 2010, J APPL BEHAV ANAL, V43, P1, DOI 10.1901/jaba.2010.43-1 KNAPCZYK DR, 1989, J APPL BEHAV ANAL, V22, P77, DOI 10.1901/jaba.1989.22-77 Lechago SA, 2010, J APPL BEHAV ANAL, V43, P381, DOI 10.1901/jaba.2010.43-381 Ostryn C, 2011, FOCUS AUTISM DEV DIS, V26, P195, DOI 10.1177/1088357611421504 SCHUSTER JW, 1988, J APPL BEHAV ANAL, V21, P169, DOI 10.1901/jaba.1988.21-169 Shillingsburg MA, 2011, RES AUTISM SPECT DIS, V5, P670, DOI 10.1016/j.rasd.2010.08.004 Sindelar P. T., 1985, ED TREATMENT CHILDRE, V8, P67 Skinner B. F., 1957, VERBAL BEHAV Smith RG, 1995, J APPL BEHAV ANAL, V28, P515, DOI 10.1901/jaba.1995.28-515 Sundberg M. L., 2002, ANAL VERBAL BEHAV, V18, P15 Sundberg M. L., 2007, APPL BEHAV ANAL, P526 TWARDOSZ S, 1973, J APPL BEHAV ANAL, V6, P655, DOI 10.1901/jaba.1973.6-655 Williams G, 2000, J APPL BEHAV ANAL, V33, P627, DOI 10.1901/jaba.2000.33-627 NR 17 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-8855 EI 1938-3703 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD SPR PY 2014 VL 47 IS 1 BP 136 EP 150 DI 10.1002/jaba.101 PG 15 WC Psychology, Clinical SC Psychology GA AC3HW UT WOS:000332408900010 PM 24644025 ER PT J AU Homlitas, C Rosales, R Candel, L AF Homlitas, Christa Rosales, Rocio Candel, Lindsay TI A FURTHER EVALUATION OF BEHAVIORAL SKILLS TRAINING FOR IMPLEMENTATION OF THE PICTURE EXCHANGE COMMUNICATION SYSTEM SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE behavioral skills training; picture exchange communication system; staff training AB We evaluated the effectiveness of a behavioral skills training package to teach implementation of Phases 1, 2, and 3A of the picture exchange communication system (PECS) to teachers employed at a therapeutic center for children with autism. Probes in the natural environment and follow-up were conducted with children who were assigned to work with the teachers in their own classrooms. Results provide additional support for the efficacy of behavioral skills training to teach implementation of PECS. C1 [Homlitas, Christa; Rosales, Rocio] Youngstown State Univ, Youngstown, OH USA. [Candel, Lindsay] Rich Ctr Autism, Youngstown, OH USA. RP Rosales, R (reprint author), Univ Massachusetts, Dept Psychol, 113 Wilder St,Suite 300, Lowell, MA 01854 USA. EM rocio_rosales@uml.edu CR Barnes CS, 2011, RES AUTISM SPECT DIS, V5, P1574, DOI 10.1016/j.rasd.2011.03.003 Ben Chaabane Delia B, 2009, J Appl Behav Anal, V42, P671, DOI 10.1901/jaba.2009.42-671 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Frost L., 2002, PICTURE EXCHANGE COM, V2nd Pence ST, 2012, J APPL BEHAV ANAL, V45, P345, DOI 10.1901/jaba.2012.45-345 Rosales R, 2009, J APPL BEHAV ANAL, V42, P541, DOI 10.1901/jaba.2009.42-541 Sulzer-Azaroff B, 2009, FOCUS AUTISM DEV DIS, V24, P89, DOI 10.1177/1088357609332743 Wood AL, 2007, BEHAV MODIF, V31, P847, DOI 10.1177/0145445507302893 NR 8 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-8855 EI 1938-3703 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD SPR PY 2014 VL 47 IS 1 BP 198 EP 203 DI 10.1002/jaba.99 PG 6 WC Psychology, Clinical SC Psychology GA AC3HW UT WOS:000332408900020 PM 24435619 ER PT J AU Pennington, R Delano, M Scott, R AF Pennington, Robert Delano, Monica Scott, Renee TI IMPROVING COVER-LETTER WRITING SKILLS OF INDIVIDUALS WITH INTELLECTUAL DISABILITIES SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS LA English DT Article DE autism; employment; intellectual disabilities; prompting; writing instruction ID JOB INTERVIEW SKILLS; STUDENTS; PROGRAM; AUTISM AB We evaluated a multicomponent intervention for improving the cover-letter writing skills of individuals with intellectual disabilities. An intervention that included modeling, self-monitoring, prompting, and feedback increased correct performance for all participants. In addition, the skill was demonstrated across audiences. C1 [Pennington, Robert; Delano, Monica] Univ Louisville, Louisville, KY 40292 USA. [Scott, Renee] Jefferson Cty Publ Sch, Louisville, KY USA. RP Pennington, R (reprint author), Univ Louisville, Dept Special Educ, Louisville, KY 40292 USA. EM robert.pennington@louisville.edu CR CLARK HB, 1975, J APPL BEHAV ANAL, V8, P67, DOI 10.1901/jaba.1975.8-67 Collins BC, 2001, J DEV PHYS DISABIL, V13, P41, DOI 10.1023/A:1026557316417 HALL C, 1980, J APPL BEHAV ANAL, V13, P433, DOI 10.1901/jaba.1980.13-433 KELLY JA, 1980, J APPL BEHAV ANAL, V13, P461, DOI 10.1901/jaba.1980.13-461 Reid DH, 2003, J APPL BEHAV ANAL, V36, P575, DOI 10.1901/jaba.2003.36-575 ROUSSEAU MK, 1994, RES DEV DISABIL, V15, P19, DOI 10.1016/0891-4222(94)90036-1 Shogren KA, 2012, INTELLECT DEV DISAB, V50, P16, DOI 10.1352/1934-9556-50.1.16 Stromer R, 1998, J APPL BEHAV ANAL, V31, P1, DOI 10.1901/jaba.1998.31-1 Stromer R, 1996, J APPL BEHAV ANAL, V29, P25, DOI 10.1901/jaba.1996.29-25 Test D., 2009, CAREER DEV EXCEPTION, V32, P160, DOI DOI 10.1177/0885728809346960 Wehman P. H, 2011, J VOCATIONAL REHABIL, V35, P145, DOI DOI 10.3233/JVR-2011-0562 Yamamoto J, 1999, RES DEV DISABIL, V20, P355, DOI 10.1016/S0891-4222(99)00017-7 NR 12 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-8855 EI 1938-3703 J9 J APPL BEHAV ANAL JI J. Appl. Behav. Anal. PD SPR PY 2014 VL 47 IS 1 BP 204 EP 208 DI 10.1002/jaba.96 PG 5 WC Psychology, Clinical SC Psychology GA AC3HW UT WOS:000332408900021 PM 24424684 ER PT J AU Hines, M Balandin, S Togher, L AF Hines, Monique Balandin, Susan Togher, Leanne TI The Stories of Older Parents of Adult Sons and Daughters with Autism: A Balancing Act SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE adult; autism; caregiving; family; older parent ID RECEPTIVE LANGUAGE DISORDER; FOLLOW-UP; SPECTRUM DISORDERS; FAMILY; ADOLESCENTS; LIFE; CHILDREN; QUALITY; DISABILITIES; POPULATION AB BackgroundResearchers acknowledge the importance of understanding how families of children with autism cope. Yet, little is known about the experiences of older parents of adults with autism. Materials and MethodsIn-depth interviews were conducted with 16 older parents of adults with autism. Narrative analysis was used to gain insights into their lived experiences. ResultsParticipants' narratives reflected the notion that much of their experience was a delicate balancing act as they attempted to manage their offspring's symptoms of autism whilst achieving a degree of fulfilment in their own lives. Parents did not believe that formal services had adequately supported their ability to provide care whilst meeting other needs within the family context. ConclusionsThe findings have implications for services that attempt to support older parents' abilities to provide care, including the need for tailored intervention strategies that match each family's unique needs. C1 [Hines, Monique; Togher, Leanne] Univ Sydney, Sydney, NSW 2006, Australia. [Balandin, Susan] Victoria Univ Wellington, Wellington, New Zealand. RP Hines, M (reprint author), Cerebral Palsy Alliance, POB 560, Darlinghurst, NSW 1300, Australia. 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TI Mindfulness-Based Stress Reduction for Parents of Young Children with Developmental Delays: Implications for Parental Mental Health and Child Behavior Problems SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE autism spectrum disorders; behaviour problems; developmental disability; intellectual disability; mindfulness; parental stress ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; INTELLECTUAL DISABILITY; PRESCHOOL-CHILDREN; EXTERNALIZING BEHAVIOR; DECREASES AGGRESSION; SYNDROME SPECIFICITY; AGE-CHILDREN; LIFE SCALE; MOTHERS; ADOLESCENTS AB BackgroundParents of children with developmental delays (DD) typically report elevated levels of parental stress compared with parents of typically developing children. Children with DD are also at high risk for exhibiting significant behaviour problems. Parental stress has been shown to impact the development of these behaviour problems; however, it is rarely addressed in interventions aimed at reducing child behaviour problems. The current study examined the efficacy of mindfulness-based stress reduction (MBSR) for parents of children with DD by investigating whether this intervention is effective in reducing parenting stress and whether decreases in parenting stress lead to reductions in behaviour problems among children with DD. Materials and methodsForty six parents of children with DD were randomly assigned to an immediate treatment or wait list-control group. Participants completed questionnaires assessing parental stress and child behaviour problems at intake and at a second assessment, which took place after only the immediate treatment group had received the MBSR. 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Appl. Res. Intellect. Disabil. PD MAR PY 2014 VL 27 IS 2 BP 174 EP 186 DI 10.1111/jar.12064 PG 13 WC Psychology, Educational; Rehabilitation SC Psychology; Rehabilitation GA AA9DG UT WOS:000331393300009 PM 23813562 ER PT J AU Viola, D Arno, PS Byrnes, JG Doran, EA AF Viola, Deborah Arno, Peter S. Byrnes, Jeanne G. Doran, Elizabeth A. TI The Postpediatrician Transition: A Life Span Care Perspective SO JOURNAL OF DISABILITY POLICY STUDIES LA English DT Article DE developmental disabilities; long-term care; policy; system(s) change; transition; medical home; life span perspective ID AUTISM SPECTRUM DISORDER; ADULT HEALTH-CARE; 2005-2006 NATIONAL-SURVEY; MEDICAL HOME; YOUNG-ADULTS; DEVELOPMENTAL-DISABILITIES; COST-EFFECTIVENESS; UNITED-STATES; NEEDS; CHILDREN AB A variety of factors impacts the transition from childhood to adulthood for persons with special health care needs or disabilities. Among these are the barriers in care coordination associated with our bifurcated health care delivery system in which pediatric medicine does not smoothly link up with the medical care received by adults. After reviewing the literature, we discuss the strong case to be made for reconceptualizing the medical home model, introducing a life span perspective to resolve the postpediatrician transition. Rather than a hand off from pediatrician to adult provider, this approach provides a pathway to fully integrating this patient population into our evolving health care system. C1 [Viola, Deborah; Doran, Elizabeth A.] New York Med Coll, Valhalla, NY 10595 USA. [Arno, Peter S.] Polit Econ Res Inst, Amherst, MA USA. [Arno, Peter S.] CUNY Herbert H Lehman Coll, Bronx, NY 10468 USA. [Byrnes, Jeanne G.] Hofstra Univ, Hempstead, NY 11550 USA. RP Viola, D (reprint author), New York Med Coll, Sch Hlth Sci & Practice, Room 311, Valhalla, NY 10595 USA. 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Disabil. Policy Stud. PD MAR PY 2014 VL 24 IS 4 BP 238 EP 246 DI 10.1177/1044207313503684 PG 9 WC Rehabilitation SC Rehabilitation GA AA7LZ UT WOS:000331280200005 ER PT J AU Steward-Scott, E AF Steward-Scott, Ellena TI Autism Spectrum Disorders: Picky Eaters SO JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES LA English DT Letter ID CHILDREN EM esteward-scott@sbcglobal.net CR Kral TVE, 2013, J PEDIATR NURS, V28, P548, DOI 10.1016/j.pedn.2013.01.008 Levy SE, 2003, J DEV BEHAV PEDIATR, V24, P418, DOI 10.1097/00004703-200312000-00003 Seiverling L, 2010, J DEV PHYS DISABIL, V22, P401, DOI 10.1007/s10882-010-9206-0 NR 3 TC 0 Z9 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0882-5963 J9 J PEDIATR NURS JI J. Pediatr. Nurs. PD MAR-APR PY 2014 VL 29 IS 2 BP 107 EP 107 DI 10.1016/j.pedn.2013.12.009 PG 1 WC Nursing; Pediatrics SC Nursing; Pediatrics GA AC3BP UT WOS:000332390300002 PM 24457101 ER PT J AU Carlisle, GK AF Carlisle, Gretchen K. TI Pet Dog Ownership Decisions for Parents of Children With Autism Spectrum Disorder SO JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES LA English DT Article DE Autism; Pets; Children; Dogs; Human-animal interaction ID ANIMAL-ASSISTED THERAPY; DEVELOPMENTAL DISORDERS; ATTACHMENT; HEALTH AB This study aimed to examine the role of pet dogs in families of children with autism. Sixty-seven percent of families owned dogs and 94% reported that their children were bonded to their dogs. Parents described previous experience with dogs and beliefs in their benefits as influential in their dog ownership decision-making process. Children living with dogs interacted with them in play and/or sharing personal space. Sensory issues of the children impacted their interaction with dogs inside and outside the home. Time and cost of care were identified burdens of dog ownership. Benefits were the opportunity to learn responsibility and companionship. (C) 2014 Elsevier Inc. All rights reserved. C1 Univ Missouri, Columbia, MO 65211 USA. RP Carlisle, GK (reprint author), Univ Missouri, Columbia, MO 65211 USA. EM carlislegk@missouri.edu FU Sigma Theta Tau-Alpha Iota Chapter FX This study was supported with a grant from Sigma Theta Tau-Alpha Iota Chapter. The author would like to acknowledge the support of her dissertation committee members, Dr. Rebecca A. Johnson, Dr. Lawrence Ganong, Dr. Debra Gayer and Dr. Micah Mazurek. 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Policy Pract. Intellect. Disabil. PD MAR PY 2014 VL 11 IS 1 BP 43 EP 57 PG 15 WC Health Policy & Services; Rehabilitation SC Health Care Sciences & Services; Rehabilitation GA AC0KE UT WOS:000332182400006 ER PT J AU Grandjean, P Landrigan, PJ AF Grandjean, Philippe Landrigan, Philip J. TI Neurobehavioural effects of developmental toxicity SO LANCET NEUROLOGY LA English DT Review ID PRENATAL METHYLMERCURY EXPOSURE; INTERNATIONAL POOLED ANALYSIS; ENVIRONMENTAL LEAD-EXPOSURE; SCHOOL-AGE-CHILDREN; INTELLECTUAL FUNCTION; AIR-POLLUTION; INDUSTRIAL-CHEMICALS; ACADEMIC-ACHIEVEMENT; CHILDHOOD BEHAVIOR; POSTNATAL EXPOSURE AB Neurodevelopmental disabilities, including autism, attention-deficit hyperactivity disorder, dyslexia, and other cognitive impairments, affect millions of children worldwide, and some diagnoses seem to be increasing in frequency Industrial chemicals that injure the developing brain are among the known causes for this rise in prevalence. In 2006, we did a systematic review and identified five industrial chemicals as developmental neurotoxicants: lead, methylmercury, polychlorinated biphenyls, arsenic, and toluene. Since 2006, epidemiological studies have documented six additional developmental neurotoxicants-manganese, fluoride, chlorpyrifos, dichlorodiphenyltrichloroethane, tetrachloroethylene, and the polybrominated diphenyl ethers. We postulate that even more neurotoxicants remain undiscovered. To control the pandemic of developmental neurotoxidty, we propose a global prevention strategy. Untested chemicals should not be presumed to be safe to brain development, and chemicals in existing use and all new chemicals must therefore be tested for developmental neurotoxicity. To coordinate these efforts and to accelerate translation of science into prevention, we propose the urgent formation of a new international clearinghouse. C1 [Grandjean, Philippe] Univ Southern Denmark, Dept Environm Med, Odense, Denmark. [Grandjean, Philippe] Harvard Univ, Sch Publ Hlth, Dept Environm Hlth, Boston, MA 02215 USA. [Landrigan, Philip J.] Icahn Sch Med Mt Sinai, New York, NY USA. RP Grandjean, P (reprint author), Harvard Univ, Sch Publ Hlth, 401 Pk Dr E-110, Boston, MA 02215 USA. EM pgrand@hsph.harvard.edu FU National Institutes of Health, National Institute for Environmental Health Sciences [ES09584, ES09797, ES11687] FX This work was supported by the National Institutes of Health, National Institute for Environmental Health Sciences (ES09584, ES09797, and ES11687). The funding source had no role in the literature review, interpretation of data, writing of this Review, or in the decision to submit for publication. The contents of this paper are solely the responsibility of the authors and do not represent the official views of the National Institutes of Health. We thank Mary S Wolff (Icahn School of Medicine at Mount Sinai, New York, NY, USA) and Linda S Birnbaum (US National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA) for their critical reading of the report. 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PD MAR PY 2014 VL 13 IS 3 BP 330 EP 338 DI 10.1016/S1474-4422(13)70278-3 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA AC1NW UT WOS:000332264300015 PM 24556010 ER PT J AU Shao, SS Xu, SQ Yang, J Zhang, T He, Z Sun, Z Song, RR AF Shao, Shanshan Xu, Sanqing Yang, Jun Zhang, Ti He, Zhen Sun, Zhao Song, Ranran TI A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population SO MOLECULAR BIOLOGY REPORTS LA English DT Article DE Polymorphism; rs9616915; SHANK3; Autism spectrum disorder ID PRAGMATIC DEFICITS; DOWNS-SYNDROME; MUTATIONS; CHILDREN; COMPLEX; SYNAPSE; DYSFUNCTION; BEHAVIORS; PROTEINS; HEALTH AB Autism spectrum disorder (ASD) is one of neurodevelopmental disorders with highly heritability. Recently, abnormality at the synapse is found to be important etiology of ASD. SHANK3 gene is suggested as a strong candidate gene for the pathogenesis of ASD, because it is essential for normally synaptic structure and function. We performed a case-control study to identify association between rs9616915 of the SHANK3 gene and ASD in a Chinese population. Genomic DNA was extracted from oral swabs samples of 212 patients and 636 controls and the SNP genotypes were determined by a polymerase chain reaction-restriction fragment length polymerase assay. Significant difference in genotype distribution of rs9616915 was observed between cases and controls by Pearson's chi (2) test (chi (2) = 6.92, P = 0.031). Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95 % CI 0.359-0.942, P = 0.028). In conclusion, our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ASD in China. C1 [Shao, Shanshan; Zhang, Ti; He, Zhen; Sun, Zhao; Song, Ranran] Huazhong Univ Sci & Technol, Dept Maternal & Child Hlth, Sch Publ Hlth, Tongji Med Coll, Wuhan 430030, Peoples R China. [Shao, Shanshan; Zhang, Ti; He, Zhen; Sun, Zhao; Song, Ranran] Huazhong Univ Sci & Technol, MOE Minist Educ, Sch Publ Hlth, Key Lab Environm & Hlth,Tongji Med Coll, Wuhan 430030, Peoples R China. [Xu, Sanqing] Huazhong Univ Sci & Technol, Dept Pediat, Tongji Hosp, Tongji Med Coll, Wuhan 430030, Peoples R China. [Yang, Jun] Suzhou Psychiat Hosp, Suzhou 215008, Peoples R China. RP Song, RR (reprint author), Huazhong Univ Sci & Technol, Dept Maternal & Child Hlth, Sch Publ Hlth, Tongji Med Coll, Wuhan 430030, Peoples R China. EM ranransong@gmail.com FU National Natural Science Foundation of China [NSFC-81273092] FX Financial support of this work was provided by National Natural Science Foundation of China: NSFC-81273092. 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Biol. Rep. PD MAR PY 2014 VL 41 IS 3 BP 1591 EP 1595 DI 10.1007/s11033-013-3005-5 PG 5 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA AB7WA UT WOS:000332000400044 PM 24398551 ER PT J AU Yendiki, A Koldewyn, K Kakunoori, S Kanwisher, N Fischl, B AF Yendiki, Anastasia Koldewyn, Kami Kakunoori, Sita Kanwisher, Nancy Fischl, Bruce TI Spurious group differences due to head motion in a diffusion MRI study SO NEUROIMAGE LA English DT Article DE Diffusion MRI; Tractography; Motion; Autism ID AUTISM SPECTRUM DISORDER; WHITE-MATTER COMPROMISE; VOLUMETRIC NAVIGATORS; ALZHEIMERS-DISEASE; HUMAN BRAIN; CHILDREN; IMAGES; ABNORMALITIES; SEGMENTATION; REGISTRATION AB Diffusion-weighted MRI (DW-MRI) has become a popular imaging modality for probing the microstructural properties of white matter and comparing them between populations in vivo. However, the contrast in DW-MRI arises from the microscopic random motion of water molecules in brain tissues, which malces it particularly sensitive to macroscopic head motion. Although this has been known since the introduction of DW-MRI, most studies that use this modality for group comparisons do not report measures of head motion for each group and rely on registration-based correction methods that cannot eliminate the full effects of head motion on the DW-MR! contrast. In this work we use data from children with autism and typically developing children to investigate the effects of head motion on differences in anisotropy and diffusivity measures between groups. We show that group differences in head motion can induce group differences in DW-MRI measures, and that this is the case even when comparing groups that include control subjects only, where no anisotropy or diffusivity differences are expected. We also show that such effects can be more prominent in some white-matter pathways than others, and that they can be ameliorated by including motion as a nuisance regressor in the analyses. Our results demonstrate the importance of taking head motion into account in any population study where one group might exhibit more head motion than the other. (C) 2013 Elsevier Inc. All rights reserved. C1 [Yendiki, Anastasia; Kakunoori, Sita; Fischl, Bruce] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Athinoula A Martinos Ctr Biomed Imaging,Dept Radi, Boston, MA 02114 USA. [Koldewyn, Kami; Kanwisher, Nancy] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. [Fischl, Bruce] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA. RP Yendiki, A (reprint author), Harvard Univ, Massachusetts Gen Hosp, Sch Med, Athinoula A Martinos Ctr Biomed Imaging,Dept Radi, Boston, MA 02114 USA. EM ayendiki@nmr.mgh.harvard.edu FU Autism & Dyslexia Project; Ellison Medical Foundation; National Institute for Biomedical Imaging and Bioengineering [K99/R00-EB008129, R01-EB006758]; National Center for Research Resources [P41-RR14, Q75, U24-RR021382]; National Institute on Aging [AG022381, 5R01-AG008122-22]; National Center for Alternative Medicine [RC1-AT005728-01]; National Institute for Neurological Disorders and Stroke [R01NS052585-01, 1R21-NS072652-01, 1R01-NS070963]; Shared Instrumentation Grants [1S10RR023401, 1S10RR019307, 1S10RR023043]; National Institutes of Health Blueprint for Neuroscience Research [5U01-MH093765] FX Support for this research was proyided in part by The Autism & Dyslexia Project funded by the Ellison Medical Foundation, the National Institute for Biomedical Imaging and Bioengineering (Pathway to Independence award K99/R00-EB008129, R01-EB006758), the National Center for Research Resources (P41-RR14,Q75, U24-RR021382), the National Institute on Aging (AG022381, 5R01-AG008122-22), the National Center for Alternative Medicine (RC1-AT005728-01), and the National Institute for Neurological Disorders and Stroke (R01NS052585-01, 1R21-NS072652-01, 1R01-NS070963), and was made possible by the resources provided by Shared Instrumentation Grants 1S10RR023401, 1S10RR019307, and 1S10RR023043. 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10.1093/cercor/11.1.17 Yucel M, 2003, BRIT J PSYCHIAT, V182, P518, DOI 10.1192/bjp.182.6.518 Zhang JY, 2009, J NEUROSCI, V29, P3160, DOI 10.1523/JNEUROSCI.3941-08.2009 NR 111 TC 1 Z9 1 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD MAR PY 2014 VL 88 BP 143 EP 154 DI 10.1016/j.neuroimage.2013.11.025 PG 12 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA AB8PH UT WOS:000332052000016 ER PT J AU South, M Chamberlain, PD Wigham, S Newton, T Le Couteur, A McConachie, H Gray, L Freeston, M Parr, J Kirwan, CB Rodgers, J AF South, Mikle Chamberlain, Paul D. Wigham, Sarah Newton, Tiffani Le Couteur, Ann McConachie, Helen Gray, Laura Freeston, Mark Parr, Jeremy Kirwan, C. Brock Rodgers, Jacqui TI Enhanced Decision Making and Risk Avoidance in High-Functioning Autism Spectrum Disorder SO NEUROPSYCHOLOGY LA English DT Article DE autism spectrum disorder; emotion; neuropsychology; cognition; psychophysiology ID IOWA-GAMBLING-TASK; BRAIN; FEAR; ADOLESCENCE; REVERSAL; AMYGDALA AB Objective: Everyday decision making requires integration of a broad range of information from a variety of sources, including cognitive and emotional processes. For individuals with autism spectrum disorder (ASD), everyday decision making can be difficult. The mechanisms that underlie decision making in young people diagnosed with ASD have not been fully explored. Method: We studied children and young adolescents with autism spectrum disorder (ASD; n = 48) compared with an age-and ability-matched typical control group (CON; n = 54). We evaluated performance and psycho-physiological responsivity during the Iowa Gambling Task (IGT), an affective decision-making task. Results: ASD participants were superior to control participants on overall performance (p < .05), especially because of significantly better learning in later stages of the task. While both groups showed robust and equal psychophysiological arousal to disadvantageous decks, the groups differed in their choice of card type, with the CON group choosing more often from the frequent-gain disadvantageous deck, despite occasional large losses; while the ASD group chose prominently from the advantageous decks. Conclusions: A decision-making style characterized by a drive to avoid potential loss rather than to seek possible reward may help decision making for ASD in some situations, but ultimately hinder functioning in relation to prosocial engagement and other complex situations where gain rather than punishment is the most effective motivating factor. C1 [South, Mikle; Kirwan, C. Brock] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA. [South, Mikle; Chamberlain, Paul D.; Newton, Tiffani; Kirwan, C. Brock] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA. [Wigham, Sarah] Newcastle Univ, Inst Hlth & Soc, Fac Med, Newcastle Upon Tyne, Tyne & Wear, England. [Le Couteur, Ann; McConachie, Helen; Gray, Laura; Freeston, Mark; Parr, Jeremy; Rodgers, Jacqui] Newcastle Univ, Fac Med, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. RP South, M (reprint author), Brigham Young Univ, Dept Psychol, 245 Taylor Bldg, Provo, UT 84602 USA. EM south@byu.edu FU Brigham Young University; Newcastle University, Northumberland; Tyne; Tyne and Wear NHS Trust; Newcastle upon Tyne Hospitals NHS Foundation Trust FX This research in the United States was supported in part by a Mentored Environment Grant from Brigham Young University. In the United Kingdom the work was supported by Newcastle University, Northumberland, Tyne, and Wear NHS Trust and Newcastle upon Tyne Hospitals NHS Foundation Trust. We thank Dominic Schmuck and Daniel Bjornn for their contributions. 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Psychol. Sci. PD MAR PY 2014 VL 9 IS 2 BP 131 EP 143 DI 10.1177/1745691613518076 PG 13 WC Psychology, Multidisciplinary SC Psychology GA AC0DT UT WOS:000332165700003 ER PT J AU Gyllenberg, D Gissler, M Malm, H Artama, M Hinkka-Yli-Salomaki, S Brown, AS Sourander, A AF Gyllenberg, David Gissler, Mika Malm, Heli Artama, Miia Hinkka-Yli-Salomaki, Susanna Brown, Alan S. Sourander, Andre TI Specialized Service Use for Psychiatric and Neurodevelopmental Disorders by Age 14 in Finland SO PSYCHIATRIC SERVICES LA English DT Article ID MENTAL-HEALTH; LIFETIME PREVALENCE; CHILDREN; CHILDHOOD; PSYCHOPATHOLOGY; COMORBIDITY; PATHWAYS; CARE AB Objective: Most studies on the diagnostic patterns of usage of specialized services for childhood psychiatric and neurodevelopmental disorders have been cross-sectional, and the aim of this study was to provide longitudinal data. Methods: The Medical Birth Register and the Finnish Hospital Discharge Register were used to study the use of inpatient or public outpatient specialized services for psychiatric and neurodevelopmental disorders between birth and age 14 in 2010 (cumulative incidence) and in year 2010 at age 14 (one-year prevalence) among Finnish children born in 1996 (N=58,538 singleton live births). Results: The cumulative incidence of specialized service use for any psychiatric or neurodevelopmental disorders between birth and age 14 was 12.9%, and the one-year prevalence in 2010 at 14 years was 4.2%. The cumulative incidence by age 14 was 5.5% for learning and coordination disorders, 2.2% for anxiety disorders, 2.0% for hyperkinetic disorders, 1.7% for conduct disorders, 1.4% for depression, 1.0% for autism spectrum disorders, and .7% for stress and adjustment disorders. Learning and coordination, hyperkinetic, and autism spectrum disorders were more prevalent among boys, were often diagnosed before school age, and had 9%-51% lifetime comorbidity with each other. Depressive, anxiety, and stress and adjustment disorders had similar distributions between the sexes, were often diagnosed in early adolescence, and showed 8%-31% lifetime comorbidity with each other. Conclusions: Every eighth Finnish child had visited specialized services for psychiatric or neurodevelopmental disorders sometime between birth and age 14. Learning and coordination disorders were diagnosed more than twice as often as anxiety, hyperkinetic, and conduct disorders. C1 [Gyllenberg, David] Columbia Univ, Coll Phys & Surg, Dept Psychiat, New York, NY 10027 USA. [Gyllenberg, David; Brown, Alan S.; Sourander, Andre] New York State Psychiat Inst & Hosp, New York, NY 10032 USA. [Gyllenberg, David; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku, Finland. [Gyllenberg, David; Gissler, Mika; Malm, Heli; Artama, Miia; Hinkka-Yli-Salomaki, Susanna; Sourander, Andre] Univ Turku, Cent Hosp, FIN-20520 Turku, Finland. [Brown, Alan S.] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA. [Gissler, Mika] Natl Inst Hlth & Welf, Helsinki, Finland. [Malm, Heli] HUSLAB, Dept Teratol Informat, Helsinki, Finland. [Artama, Miia] Inst Stat & Epidemiol Canc Res, Finnish Canc Registry, Helsinki, Finland. RP Gyllenberg, D (reprint author), Columbia Univ, Coll Phys & Surg, Dept Psychiat, New York, NY 10027 USA. EM dpg2113@columbia.edu FU National Institutes of Health [P50MH090966, 1]; Sackler Center for Developmental Psychobiology at Columbia University; Sigrid Juselius Foundation; Finnish Medical Association; Foundation for Pediatric Research in Finland FX This study was funded by National Institutes of Health grant P50MH090966 (Project 1, Dr. Brown and Dr. Sourander, co-principal investigators) and by the Sackler Center for Developmental Psychobiology at Columbia University. Dr. Gyllenberg was funded by the Sigrid Juselius Foundation, by the Finnish Medical Association, and by the Foundation for Pediatric Research in Finland. 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Serv. PD MAR PY 2014 VL 65 IS 3 BP 367 EP 373 DI 10.1176/appi.ps.201200544 PG 7 WC Health Policy & Services; Public, Environmental & Occupational Health; Psychiatry SC Health Care Sciences & Services; Public, Environmental & Occupational Health; Psychiatry GA AB8NY UT WOS:000332048500015 PM 24337256 ER PT J AU Zablotsky, B Kalb, LG Freedman, B Vasa, R Stuart, EA AF Zablotsky, Benjamin Kalb, Luther G. Freedman, Brian Vasa, Roma Stuart, Elizabeth A. TI Health Care Experiences and Perceived Financial Impact Among Families of Children With an Autism Spectrum Disorder SO PSYCHIATRIC SERVICES LA English DT Article ID MANAGEMENT; DIAGNOSIS; SERVICES AB Objective: The authors compared the health care experiences of families raising a child with autism spectrum disorder (ASD), an intellectual disability disorder (IDD), or attention-deficit hyperactivity disorder (ADHD). Methods: Children with a current diagnosis of ASD (N=3,005), ADHD (N=9,662), or IDD (N=949) were identified in the 2009-2010 National Survey of Children With Special Health Care Needs. Weighted structural equation modeling was used to determine the association between family satisfaction with medical care, timeliness of care, and medical insurance coverage and the impact of the child's condition on the family's financial situation. Results: Families of children diagnosed as having ASD comorbid with either ADHD or IDD or comorbid with both conditions reported the highest levels of dissatisfaction across all health care quality variables and experienced the greatest impact on the family's financial situation. Conclusions: The findings underscore the need for comprehensive and accessible health care services for children with ASD, particularly those with comorbid conditions. C1 [Zablotsky, Benjamin; Kalb, Luther G.; Stuart, Elizabeth A.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA. [Stuart, Elizabeth A.] Univ Delaware, Dept Biostat, Newark, DE USA. [Freedman, Brian] Univ Delaware, Ctr Disabil Studies, Newark, DE USA. [Vasa, Roma] Kennedy Krieger Inst, Baltimore, MD USA. RP Zablotsky, B (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA. 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PD MAR PY 2014 VL 65 IS 3 BP 395 EP 398 DI 10.1176/appi.ps.201200552 PG 4 WC Health Policy & Services; Public, Environmental & Occupational Health; Psychiatry SC Health Care Sciences & Services; Public, Environmental & Occupational Health; Psychiatry GA AB8NY UT WOS:000332048500020 PM 24584528 ER PT J AU Ronald, A AF Ronald, Angelica TI The times they are a-changin' SO PSYCHOLOGIST LA English DT Article ID DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; LONGITUDINAL TWIN; GENETIC OVERLAP; COMMUNITY TWIN; ADHD BEHAVIORS; TRAITS; POPULATION; COMPONENTS; CHILDHOOD AB Most of the time we think about clinical conditions, such as autism or ADHD or schizophrenia or depression, individually. Yet in reality it is extremely common for people to show more than one condition together. An example is autism and ADHD, which often occur together. The causes for this 'comorbidity have been researched over the last five years, and some startling results are emerging. C1 [Ronald, Angelica] Univ London, Ctr Brain & Cognit Dev Birkbeck, London WC1E 7HU, England. RP Ronald, A (reprint author), Univ London, Ctr Brain & Cognit Dev Birkbeck, London WC1E 7HU, England. 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RP Kalyankar, P (reprint author), Learning Disabil Serv, London, England. CR ATTWOOD T, CBT HELP YOUNG PEOPL NR 1 TC 0 Z9 0 PU BRITISH PSYCHOLOGICAL SOC PI LEICESTER PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND SN 0952-8229 J9 PSYCHOLOGIST JI Psychologist PD MAR PY 2014 VL 27 IS 3 BP 205 EP 205 PG 1 WC Psychology, Multidisciplinary SC Psychology GA AC0OU UT WOS:000332195400041 ER PT J AU Hume, K AF Hume, Kara TI Introduction to the Special Issue: Autism, Adolescence, and High School SO REMEDIAL AND SPECIAL EDUCATION LA English DT Editorial Material C1 Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC 27599 USA. RP Hume, K (reprint author), Univ N Carolina, Frank Porter Graham Child Dev Inst, 517 S Greensboro,Campus Box 8040, Chapel Hill, NC 27599 USA. EM kara.hume@unc.edu NR 0 TC 0 Z9 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0741-9325 EI 1538-4756 J9 REM SPEC EDUC JI Remedial Spec. Educ. PD MAR PY 2014 VL 35 IS 2 SI SI BP 67 EP 67 DI 10.1177/0741932513519503 PG 1 WC Education, Special SC Education & Educational Research GA AC0VO UT WOS:000332213800001 ER PT J AU Fleury, VP Hedges, S Hume, K Browder, DM Thompson, JL Fallin, K El Zein, F Reutebuch, CK Vaughn, S AF Fleury, Veronica P. Hedges, Susan Hume, Kara Browder, Diane M. Thompson, Julie L. Fallin, Kathy El Zein, Farah Reutebuch, Colleen Klein Vaughn, Sharon TI Addressing the Academic Needs of Adolescents With Autism Spectrum Disorder in Secondary Education SO REMEDIAL AND SPECIAL EDUCATION LA English DT Article DE academic achievement; intervention; secondary education; autism spectrum disorder; alternate achievement ID HIGH-FUNCTIONING AUTISM; SEVERE DEVELOPMENTAL-DISABILITIES; READING-COMPREHENSION SKILLS; ASPERGER-SYNDROME; POSTSECONDARY EDUCATION; COMMON CORE; AGES 7; STUDENTS; CHILDREN; ACHIEVEMENT AB The number of individuals with Autism Spectrum Disorder (ASD) who enter secondary school settings and access the general education curriculum continues to grow. Many educators may find they are not prepared to adapt their instruction to meet both state standards and the diverse needs of the full spectrum individuals with ASD, which has implications for postsecondary success. In this article, we present an overview of current knowledge around academic instruction for this population, specifically (a) how characteristics associated with ASD can impact academic performance, (b) academic profiles of individuals with ASD across content areas, and (c) interventions that have been successful in improving academic outcomes for this population, including special considerations for those individuals who take alternate assessments based on alternate achievement standards. We conclude by offering suggestions for future research and considerations for professional development. C1 [Fleury, Veronica P.; Hedges, Susan; Hume, Kara] Univ N Carolina, Chapel Hill, NC 27599 USA. [Browder, Diane M.; Thompson, Julie L.; Fallin, Kathy] Univ N Carolina, Charlotte, NC 28223 USA. [El Zein, Farah; Reutebuch, Colleen Klein; Vaughn, Sharon] Univ Texas Austin, Austin, TX 78712 USA. RP Fleury, VP (reprint author), Univ N Carolina, FPG Child Dev Inst, CB 8040, Chapel Hill, NC 27599 USA. 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Educ. PD MAR PY 2014 VL 35 IS 2 SI SI BP 68 EP 79 DI 10.1177/0741932513518823 PG 12 WC Education, Special SC Education & Educational Research GA AC0VO UT WOS:000332213800002 ER PT J AU Test, DW Smith, LE Carter, EW AF Test, David W. Smith, Leann E. Carter, Erik W. TI Equipping Youth With Autism Spectrum Disorders for Adulthood Promoting Rigor, Relevance, and Relationships SO REMEDIAL AND SPECIAL EDUCATION LA English DT Article DE disabilities; high school; exceptionalities; employment; transition; special education; autism ID TRANSITION-AGE YOUTH; SELF-DETERMINATION; INTELLECTUAL DISABILITY; SPECIAL-EDUCATION; DEVELOPMENTAL-DISABILITIES; POSTSECONDARY EDUCATION; IMPLEMENTATION SCIENCE; YOUNG-ADULTS; HIGH-SCHOOL; STUDENTS AB Equipping students with ASD for a good life after high school is the overarching goal of secondary special education services and supports. In this paper, we review important elements of effective transition education for adolescents with ASD. First, we review recent findings related to the post-school employment, education, and independent living outcomes of young adults with ASD. Next, we describe a framework for addressing three important aspects of secondary schooling: rigor, relevance, and relationships. At present, an emphasis on promoting rigor, relevance, and relationships offers a promising approach for addressing the multifaceted needs of youth and young adults with ASD. Rigor, relevance, and relationships should not be viewed as distinct or competing priorities, but as essential, inseparable elements of comprehensive transition education for students with ASD. We conclude with research and policy recommendations for improving the impact of transition service delivery for students with ASD. C1 [Test, David W.] Univ N Carolina, Charlotte, NC 28223 USA. [Smith, Leann E.] Univ Wisconsin, Madison, WI 53706 USA. [Carter, Erik W.] Vanderbilt Univ, Nashville, TN 37235 USA. 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Bottema-Beutel, Kristen Gustafson, Jenny Redding Dykstra, Jessica Hume, Kara TI Promoting Social Competence and Peer Relationships for Adolescents With Autism Spectrum Disorders SO REMEDIAL AND SPECIAL EDUCATION LA English DT Article DE friendship; high school; social competence; transition; social interaction; autism spectrum disorders ID HIGH-FUNCTIONING AUTISM; HIGH-SCHOOL-STUDENTS; SKILLS INTERVENTIONS; GENERAL-EDUCATION; INTELLECTUAL DISABILITIES; CHILDREN; PROGRAM; ENGAGEMENT; YOUTH; PERSPECTIVES AB This article addresses some of the key considerations and complexities associated with intervening to address social competence and peer relationships of adolescents with autism spectrum disorder (ASD) in middle and high school settings. First, we provide a brief overview of the social context during adolescence for all students. Next, we highlight particular challenges for adolescents with ASD. 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PD MAR PY 2014 VL 35 IS 2 SI SI BP 91 EP 101 DI 10.1177/0741932513514618 PG 11 WC Education, Special SC Education & Educational Research GA AC0VO UT WOS:000332213800004 ER PT J AU Hume, K Boyd, BA Hamm, JV Kucharczyk, S AF Hume, Kara Boyd, Brian A. Hamm, Jill V. Kucharczyk, Suzanne TI Supporting Independence in Adolescents on the Autism Spectrum SO REMEDIAL AND SPECIAL EDUCATION LA English DT Article DE secondary; high school; special education; autism; independence ID POSITIVE BEHAVIORAL INTERVENTIONS; CONTROLLED-EFFECTIVENESS-TRIAL; ADAPTIVE-BEHAVIOR; ASPERGER-SYNDROME; YOUNG-ADULTS; HIGH-SCHOOL; DISORDERS; DISABILITIES; STUDENTS; CHILDREN AB The development of independent behavior is a critical, challenging process for all youth as they pass through the high school environment into adulthood. Although most high school students gain skills related to independence, the independent behaviors of their peers with autism spectrum disorder (ASD) plateau and decline. These skill deficits and resulting poor post-secondary outcomes for students with ASD highlight the great need for programming in this area. This article begins by defining independence and the influence of independence on post-secondary outcomes, and explores the factors that contribute to the difficulties in independence for individuals with ASD. Then, a review of school-wide positive behavior support and focused evidence-based practices (EBPs) related to independence is presented. Recommendations are made for practitioners and caregivers implementing interventions intended to support student independence, and recommendations for future research and practice are offered. C1 [Hume, Kara; Boyd, Brian A.; Hamm, Jill V.; Kucharczyk, Suzanne] Univ N Carolina, Chapel Hill, NC USA. RP Hume, K (reprint author), Univ N Carolina, Frank Porter Graham Child Dev Inst, 517 S Greensboro Rd, Carrboro, NC 27510 USA. 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L., 2000, FOCUS AUTISM OTHER D, V15, P157, DOI [10.1177/108835760001500305, DOI 10.1177/108835760001500305] Wehmeyer ML, 2003, EDUC TRAIN MENT RET, V38, P131 Williams DL, 2006, NEUROPSYCHOLOGY, V20, P21, DOI 10.1037/0894-4105.20.1.21 Wray-Lake L, 2010, CHILD DEV, V81, P636, DOI 10.1111/j.1467-8624.2009.01420.x Zimmer-Gembeck M. J., 2003, BLACKWELL HDB ADOLES, P175 NR 71 TC 1 Z9 1 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0741-9325 EI 1538-4756 J9 REM SPEC EDUC JI Remedial Spec. Educ. PD MAR PY 2014 VL 35 IS 2 SI SI BP 102 EP 113 DI 10.1177/0741932513514617 PG 12 WC Education, Special SC Education & Educational Research GA AC0VO UT WOS:000332213800005 ER PT J AU Smith, LE Anderson, KA AF Smith, Leann E. Anderson, Kristy A. TI The Roles and Needs of Families of Adolescents With ASD SO REMEDIAL AND SPECIAL EDUCATION LA English DT Article DE exceptionalities; families/parents; autism; transition ID AUTISM SPECTRUM DISORDER; FRAGILE-X-SYNDROME; QUALITY-OF-LIFE; BEHAVIOR PROBLEMS; YOUNG-ADULTS; HIGH-SCHOOL; INTELLECTUAL DISABILITY; PARENTAL INVOLVEMENT; SYNDROME SPECIFICITY; PRESCHOOL-CHILDREN AB The transition of a student out of high school and into the adult world can be a stressful time for many families of high school students. This major life transition can be particularly challenging for students with autism spectrum disorder (ASD) and their families. In this article, we first discuss the roles of families in the transition process for their son or daughter with ASD. Next, we present literature on the unique needs of families of adolescents with ASD during the transition to adulthood. 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PD MAR PY 2014 VL 35 IS 2 SI SI BP 114 EP 122 DI 10.1177/0741932513514616 PG 9 WC Education, Special SC Education & Educational Research GA AC0VO UT WOS:000332213800006 ER PT J AU Odom, SL Duda, MA Kucharczyk, S Cox, AW Stabel, A AF Odom, Samuel L. Duda, Michelle A. Kucharczyk, Suzanne Cox, Ann W. Stabel, Aaron TI Applying an Implementation Science Framework for Adoption of a Comprehensive Program for High School Students With Autism Spectrum Disorder SO REMEDIAL AND SPECIAL EDUCATION LA English DT Article DE evidence-based practice; secondary; inservice training; implementation science; exceptionalities; fidelity; autism ID PROFESSIONAL-DEVELOPMENT; ADOLESCENT DEVELOPMENT; YOUNG-ADULTS; TRANSITION; EMPLOYMENT; SYMPTOMS; EFFICACY; CHILDREN; MIDDLE; MODEL AB Post-school outcomes for adolescents and young adults with autism spectrum disorder (ASD) are exceedingly poor. The convergence of adolescence as a development period, the expression of ASD during adolescence, and the complicated logistic nature of high schools create a perfect storm of complexity that may pose challenges and establish barriers to providing an effective secondary education program. Given this complexity, addressing learning needs for adolescents with ASD and improving post-school outcomes requires a comprehensive approach. In this article, the authors describe a set of implementation science principles and practices that could be employed in supporting the adoption and implementation of a comprehensive program for high school students with ASD. The program developed by the Center on Secondary Education for Students With Autism Spectrum Disorder (CSESA) serves as a case example of how such principles and practices may be employed in program planning and implementation. 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TI Development of socio-communicative skills in 9-to 12-month-old individuals with fragile X syndrome SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Communication impairment; Fragile X syndrome; Home videos; Socio-communicative development; Speech-language development; Video analysis ID RETT-SYNDROME; VIDEO ANALYSIS; LANGUAGE-DEVELOPMENT; SENSORY-MOTOR; YOUNG GIRLS; HOME VIDEO; AUTISM; BEHAVIORS; PROFILES; INFANTS AB We investigated the early socio-communicative development of individuals with fragile X syndrome (FXS) by undertaking a retrospective analysis of family videos. Videos were analyzed to identify existing communicative forms and functions. Analyses were undertaken on seven children who were later diagnosed with FXS. The children were filmed when they were 9-12 months old and before being diagnosed. Fourteen different communicative forms and six different communicative functions were observed. All participants were observed to express the functions of 'Attention to self' and 'Answering', but none indicated 'Requesting action', 'Requesting information', 'Choice making', or 'Imitating'. Results suggest that children with FXS may have a limited range of communicative forms and functions when they are from 9 to 12 months of age. However, further research is necessary to gain a specific developmental profile of socio-communicative forms and functions in FXS. (c) 2014 Elsevier Ltd. All rights reserved. C1 [Marschik, Peter B.; Bartl-Pokorny, Katrin D.; Urlesberger, Leo; Pokorny, Florian; Einspieler, Christa] Med Univ Graz, Ctr Physiol Med, Inst Physiol, Res Unit iDN Interdisciplinary Dev Neurosci, Graz, Austria. [Sigafoos, Jeff] Victoria Univ Wellington, Sch Educ Psychol, Wellington 6147, New Zealand. [Didden, Robert] Radboud Univ Nijmegen, Inst Behav Sci, NL-6525 ED Nijmegen, Netherlands. [Kaufmann, Walter E.] Boston Childrens Hosp, Boston, MA USA. 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PD MAR PY 2014 VL 35 IS 3 BP 597 EP 602 DI 10.1016/j.ridd.2014.01.004 PG 6 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB8OR UT WOS:000332050400003 PM 24480609 ER PT J AU Hua, J Gu, GX Jiang, PQ Zhang, LJ Zhu, LP Meng, W AF Hua, Jing Gu, Guixiong Jiang, Peiqi Zhang, Lijun Zhu, Liping Meng, Wei TI The prenatal, perinatal and neonatal risk factors for children's developmental coordination disorder: A population study in mainland China SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE DCD; Risk factors; A population study; Mainland China ID LOW-BIRTH-WEIGHT; INFANTILE-AUTISM; PREMATURE-INFANTS; MATERNAL AGE; BILIRUBIN; BRAIN; HYPOTHERMIA; RESPONSES; DEFICITS AB We initially conducted a population-based study on developmental coordination disorder (DCD) in mainland China to explore the prenatal, perinatal and neonatal risk factors on DCD. A total of 4001 children were selected from 160 classes in 15 public nursery schools. The Movement Assessment Battery for Children-Second Edition (MABC-2) was used to assess the children's motor function. Crude and adjusted odds ratios were estimated to determine the strength of association using a multilevel logistic regression model with a random intercept. Three hundred and thirty children out of 4001 subjects met the DSM-IV criteria for DCD, and 3671 children were non-DCD. Maternal age, threatened abortion, fetal distress during labor, preterm birth, chronic lung disease and newborn pathological jaundice were related with DCD (OR = 1.72, 2.72, 9.14, 5.17, 1.43, and 2.54, respectively, each p < 0.05). Considered collectively, these risk factors may provide clues to an etiology of DCD. Additionally, the practitioners of maternity and child health care should improve the assessment and monitoring of the prenatal, perinatal and neonatal risk factors for DCD. (C) 2014 Elsevier Ltd. All rights reserved. C1 [Hua, Jing; Jiang, Peiqi; Zhu, Liping] Tongji Univ, Sch Med, Shanghai Matern & Infant Hosp 1, Shanghai 200042, Peoples R China. [Gu, Guixiong; Zhang, Lijun] Suzhou Univ, Pediat Res Inst, Suzhou 215003, Peoples R China. [Meng, Wei] Fudan Univ, Sch Publ Hlth, Shanghai, Peoples R China. RP Zhu, LP (reprint author), Tongji Univ, Sch Med, Shanghai Matern & Infant Hosp 1, PO 536 Changle Rd, Shanghai 200042, Peoples R China. EM lptongxun@163.com; 081102081@fudan.edu.cn CR Ahlfors CE, 2009, J PERINATOL, V29, P305, DOI 10.1038/jp.2008.199 American Psychiatric Association, 2000, DIAGN STAT MAN MENT American Psychiatric Association, 2013, DIAGN STAT MAN MENT, P74 Amin SB, 2004, SEMIN PERINATOL, V28, P340, DOI 10.1053/j.semperi.2004.09.005 Amin SB, 2001, PEDIATRICS, V107, P664, DOI 10.1542/peds.107.4.664 Cantin N, 2007, HUM MOVEMENT SCI, V26, P491, DOI 10.1016/j.humov.2007.03.004 Cermak S. A., 2002, DEV COORDINATION DIS Cooke R. 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PD MAR PY 2014 VL 35 IS 3 BP 619 EP 625 DI 10.1016/j.ridd.2014.01.001 PG 7 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB8OR UT WOS:000332050400006 PM 24480608 ER PT J AU Ruiz-Robledillo, N De Andres-Garcia, S Perez-Blasco, J Gonzalez-Bono, E Moya-Albiol, L AF Ruiz-Robledillo, N. De Andres-Garcia, S. Perez-Blasco, J. Gonzalez-Bono, E. Moya-Albiol, L. TI Highly resilient coping entails better perceived health, high social support and low morning cortisol levels in parents of children with autism spectrum disorder SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Health; Informal caregiver; Autism spectrum disorder; Cortisol awakening response; Social support ID AWAKENING RESPONSE; SALIVARY CORTISOL; DEVELOPMENTAL-DISABILITIES; MULTILEVEL PERSPECTIVE; ASPERGER-SYNDROME; PHYSICAL HEALTH; OF-LIFE; STRESS; CAREGIVERS; MODERATION AB The negative consequences of caring for people with developmental disabilities have been widely described. However, the ability to bounce back from the stress derived from care situations has been less studied. Those caregivers who have shown this ability are considered as resilient. This study aims to evaluate the relationship between resilience and self-reported health and cortisol awakening response (CAR) in a sample of caregivers of people with autism spectrum disorders (ASD). It also aims to evaluate the role of social support as a mediator in the association between resilience and health. Caregivers with higher resilience show better perceived health, lower morning cortisol levels, and less area under the curve with respect to ground (AUCg). Social support was positively related to resilience and mediated the relationship between resilience and perceived health. This mediating effect was not found in the association between resilience and CAR. Resilience could be a protective factor that modulates the negative consequences of chronic stress in the care context. Social support could be an important variable mediating the effects of resilience on health outcomes in caregivers. All these results must be considered when implementing effective psychological programs for helping caregivers. (C) 2013 Elsevier Ltd. All rights reserved. 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Dev. Disabil. PD MAR PY 2014 VL 35 IS 3 BP 686 EP 695 DI 10.1016/j.ridd.2013.12.007 PG 10 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB8OR UT WOS:000332050400014 PM 24405793 ER PT J AU Oppewal, A Hilgenkamp, TIM van Wijck, R Evenhuis, HM AF Oppewal, Alyt Hilgenkamp, Thessa I. M. van Wijck, Ruud Evenhuis, Heleen M. TI Heart rate recovery after the 10-m incremental shuttle walking test in older adults with intellectual disabilities SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Heart rate recovery; Cardiorespiratory fitness testing; Intellectual disabilities; Older adults ID ACTIVITY READINESS QUESTIONNAIRE; PHYSICAL-FITNESS TESTS; CARDIAC REHABILITATION; TREADMILL EXERCISE; DOWN-SYNDROME; CARDIOVASCULAR-DISEASE; RETT-SYNDROME; INDIVIDUALS; RELIABILITY; MORTALITY AB Heart rate recovery (HRR) after exercise is an independent predictor for cardiovascular and all-cause mortality. To investigate the usefulness of HRR in cardiorespiratory exercise testing in older adults with intellectual disabilities (ID), the aims of this study were (a) to assess HRR in older adults with ID after the 10-m incremental shuttle walking test (isvvr) and (b) its association with personal characteristics (gender, age, distance walked on the ISWT, level of ID, genetic syndrome causing ID, autism, behavioral problems, and peak heart rate (HRpeak)). HRR was assessed after the 10-m incremental shuttle walking test in 300 older adults (>50 years) with borderline to profound ID. HRR was defined as the change from HRpeak during the ISWT to heart rate measured after 1, 2, 3, 4, and 5 min of passive recovery. The largest decrease in heart rate was in the first minute of recovery leveling off toward the fifth minute of recovery. An abnormal HHR (<12 bpm) was seen in 36.1% of the participants with Down syndrome (DS) and in 30.7% of the participants with ID by other causes. After the fifth minute the heart rates of 69.4% of the participants with DS and of 61.4% of the participants with ID by other causes returned to resting levels. HRpeak and distance walked on the ISWT were positively related to all HRR measures. More severe ID was negatively related and having DS positively related to HRR after 35 min of recovery. The other characteristics were not significantly associated to HRR. HRR is a potentially useful outcome measure in cardiorespiratory fitness testing of older adults with ID with a direct, objective, and non-invasive measurement. Further research is needed to identify the relation between HRR and adverse health outcomes in this population. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Oppewal, Alyt; Hilgenkamp, Thessa I. M.; Evenhuis, Heleen M.] Univ Med Ctr Rotterdam, Erasmus MC, Dept Gen Practice, NL-3000 CA Rotterdam, Netherlands. [Hilgenkamp, Thessa I. M.] Abrona, NL-3712 BE Huis Ter Heide, Netherlands. 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Dev. Disabil. PD MAR PY 2014 VL 35 IS 3 BP 696 EP 704 DI 10.1016/j.ridd.2013.12.006 PG 9 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB8OR UT WOS:000332050400015 PM 24461379 ER PT J AU Silverstein, SM Moghaddam, B Wykes, T AF Silverstein, Steven M. Moghaddam, Bita Wykes, Til TI Research Strategies and Priorities to Improve the Lives of People With Schizophrenia: Executive Summary of the Ernst Strungmann Forum on Schizophrenia SO SCHIZOPHRENIA BULLETIN LA English DT Editorial Material ID RANDOMIZED CONTROLLED-TRIAL; COGNITIVE REMEDIATION; 1ST-EPISODE PSYCHOSIS; RHEUMATOID-ARTHRITIS; DYSLEXIA; RISK; ABNORMALITIES; DISORDERS; AUTISM; DUPLICATIONS C1 [Silverstein, Steven M.] Rutgers State Univ, Univ Behav Hlth Care, Piscataway, NJ USA. [Silverstein, Steven M.] Rutgers State Univ, Piscataway, NJ USA. [Moghaddam, Bita] Univ Pittsburgh, Pittsburgh, PA USA. [Wykes, Til] Kings Coll London, Inst Psychiat, Dept Psychiat, London, England. RP Silverstein, SM (reprint author), Rutgers Biomed & Hlth Sci, 151 Centennial Ave, Piscataway, NJ 08854 USA. 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PD MAR PY 2014 VL 40 IS 2 BP 259 EP 265 DI 10.1093/schbul/sbt238 PG 7 WC Psychiatry SC Psychiatry GA AC3LG UT WOS:000332419600007 PM 24473059 ER PT J AU Lucchese, G Capone, G Kanduc, D AF Lucchese, Guglielmo Capone, Giovanni Kanduc, Darja TI Peptide Sharing Between Influenza A H1N1 Hemagglutinin and Human Axon Guidance Proteins SO SCHIZOPHRENIA BULLETIN LA English DT Article DE influenza A H1N1 virus; hemagglutinin; immune cross-reactivity; schizophrenia; autism; bipolar disorder ID ACTIVATED CHLORIDE CHANNEL; ANTERIOR CINGULATE CORTEX; PRENATAL VIRAL-INFECTION; T-CELL EPITOPES; NO ASSOCIATION; BIPOLAR DISORDER; HOMO-SAPIENS; VIRUS HEMAGGLUTININ; SYNTHETIC PEPTIDES; MATERNAL INFECTION AB Epidemiologic data suggest that maternal microbial infections may cause fetal neurodevelopmental disorders, potentially increasing susceptibility to heavy psychopathologies such as schizophrenia, schizophreniform disorder, autism, pervasive developmental disorders, bipolar disorders, psychosis, epilepsy, language and speech disorders, and cognitive impairment in adult offspring. However, the molecular pathomechanisms underlying such a relationship are not clear. Here we analyze the potential role of the maternal immune response to viral infection in determining fetal brain injuries that increase the risk of neurological disorders in the adult. We use influenza infection as a disease model and human axon guidance pathway, a key process in the formation of neural network during midgestation, as a potential fetal target of immune insults. Specifically, we examined influenza A H1N1 hemagglutinin (HA), an antigenic viral protein, for amino acid sequence similarity to a random library of 188 axon guidance proteins. We obtain the results that (1) contrary to any theoretical expectations, 45 viral pentapeptide matches are distributed throughout a subset of 36 guidance molecules; (2) in 24 guidance proteins, the peptide sharing with HA antigen involves already experimentally validated influenza HA epitopes; and (3) most of the axon guidance vs HA peptide overlap is conserved among influenza A viral strains and subsets. Taken together, our data indicate that immune cross-reactivity between influenza HA and axon guidance molecules is possible and may well represent a pathologic mechanism capable of determining neurodevelopmental disruption in the fetus. C1 [Lucchese, Guglielmo] Univ Bari, Dept Neurol & Psychiat Sci, Bari, Italy. [Lucchese, Guglielmo] Free Univ Berlin, Dept Philosophy & Humanities, Berlin, Germany. [Capone, Giovanni; Kanduc, Darja] Univ Bari, Dept Biosci Biotechnol & Pharmacol Sci, Bari, Italy. RP Kanduc, D (reprint author), Univ Bari, Dept Biosci Biotechnol & Pharmacol Sci, Bari, Italy. EM dkanduc@gmail.com FU Italian Ministry of University FX Funding from Italian Ministry of University (60%) to DK. 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Bull. PD MAR PY 2014 VL 40 IS 2 BP 362 EP 375 DI 10.1093/schbul/sbs197 PG 14 WC Psychiatry SC Psychiatry GA AC3LG UT WOS:000332419600017 PM 23378012 ER PT J AU [Anonymous] AF [Anonymous] TI Highlighting the potential benefits of dogs to families living with autism SO VETERINARY RECORD LA English DT News Item NR 0 TC 0 Z9 0 PU BMJ PUBLISHING GROUP PI LONDON PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND SN 0042-4900 EI 2042-7670 J9 VET REC JI Vet. Rec. PD MAR 1 PY 2014 VL 174 IS 9 BP 214 EP 214 DI 10.1136/vr.g1603 PG 1 WC Veterinary Sciences SC Veterinary Sciences GA AC3WQ UT WOS:000332452500018 ER PT J AU Herbet, G Lafargue, G Bonnetblanc, F Moritz-Gasser, S de Champfleur, NM Duffau, H AF Herbet, Guillaume Lafargue, Gilles Bonnetblanc, Francois Moritz-Gasser, Sylvie de Champfleur, Nicolas Menjot Duffau, Hugues TI Inferring a dual-stream model of mentalizing from associative white matter fibres disconnection SO BRAIN LA English DT Article DE mentalizing system; mirror system; structural connectivity; arcuate fasciculus; cingulum ID MIRROR-NEURON SYSTEM; SUPERIOR LONGITUDINAL FASCICULUS; COST FUNCTION MASKING; GRADE-II GLIOMAS; SOCIAL COGNITION; DEFAULT MODE; FUNCTIONAL CONNECTIVITY; SPATIAL NEGLECT; HUMAN BRAIN; NEUROLOGICAL DISORDERS AB In the field of cognitive neuroscience, it is increasingly accepted that mentalizing is subserved by a complex frontotemporoparietal cortical network. Some researchers consider that this network can be divided into two distinct but interacting subsystems (the mirror system and the mentalizing system per se), which respectively process low-level, perceptive-based aspects and high-level, inference-based aspects of this sociocognitive function. However, evidence for this type of functional dissociation in a given neuropsychological population is currently lacking and the structural connectivities of the two mentalizing subnetworks have not been established. Here, we studied mentalizing in a large sample of patients (n = 93; 46 females; age range: 18-65 years) who had been resected for diffuse low-grade glioma-a rare tumour that migrates preferentially along associative white matter pathways. This neurological disorder constitutes an ideal pathophysiological model in which to study the functional anatomy of associative pathways. We mapped the location of each patient's resection cavity and residual lesion infiltration onto the Montreal Neurological Institute template brain and then performed multilevel lesion analyses (including conventional voxel-based lesion-symptom mapping and subtraction lesion analyses). Importantly, we estimated each associative pathway's degree of disconnection (i.e. the degree of lesion infiltration) and built specific hypotheses concerning the connective anatomy of the mentalizing subnetworks. As expected, we found that impairments in mentalizing were mainly related to the disruption of right frontoparietal connectivity. More specifically, low-level and high-level mentalizing accuracy were correlated with the degree of disconnection in the arcuate fasciculus and the cingulum, respectively. To the best of our knowledge, our findings constitute the first experimental data on the structural connectivity of the mentalizing network and suggest the existence of a dual-stream hodological system. Our results may lead to a better understanding of disorders that affect social cognition, especially in neuropathological conditions characterized by atypical/aberrant structural connectivity, such as autism spectrum disorders. C1 [Herbet, Guillaume; Moritz-Gasser, Sylvie; Duffau, Hugues] Gui de Chauliac Hosp, Dept Neurosurg, F-34295 Montpellier, France. [Herbet, Guillaume; Duffau, Hugues] Hop St Eloi, INSERM 1051, Inst Neurosci Montpellier, F-34091 Montpellier, France. [Herbet, Guillaume] Univ Montpellier I, F-34967 Montpellier, France. [Lafargue, Gilles] Lille Nord de France Univ, Funct Neurosci & Pathol Lab, EA 4559, F-59120 Loos, France. [Lafargue, Gilles] Lille Nord de France Univ Lille3, Dept Psychol, F-59653 Villeneuve Dascq, France. [Bonnetblanc, Francois] INSERM U1093, UFR STAPS, Cognit Act & Sensorimotor Plast Lab, F-27877 Dijon, France. [Bonnetblanc, Francois] Univ Montpellier 2, LIRMM, DEMAR Team, CNRS,INRIA, F-34095 Montpellier, France. [Bonnetblanc, Francois] Univ Inst France, F-75005 Paris, France. [Moritz-Gasser, Sylvie] Gui de Chauliac Hosp, Dept Neurol, F-34295 Montpellier, France. [de Champfleur, Nicolas Menjot] Gui de Chauliac Hosp, Dept Neuroradiol, F-34295 Montpellier, France. RP Duffau, H (reprint author), Univ Montpellier, Med Ctr, Gui de Chauliac Hosp, Dept Neurosurg, 80 Ave Augustin Fliche, F-34295 Montpellier, France. EM h-duffau@chu-montpellier.fr FU Association pour la Recherche sur le Cancer [DOC20120605069] FX G.H received a fellowship from the Association pour la Recherche sur le Cancer (grant number: DOC20120605069). The authors declare that they have no conflicts of interest. 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Chance, Steven A. TI Differentiating between self and others: an ALE meta-analysis of fMRI studies of self-recognition and theory of mind SO BRAIN IMAGING AND BEHAVIOR LA English DT Review DE Self-awareness; Theory of mind; Self-face recognition; False-belief tasks; Autism; Schizophrenia ID TEMPORO-PARIETAL JUNCTION; CORTICAL MIDLINE STRUCTURES; AUTISM SPECTRUM DISORDERS; MIRROR NEURON SYSTEM; THEORY-OF-MIND; FACE RECOGNITION; SOCIAL COGNITION; FUNCTIONAL NEUROANATOMY; PREFRONTAL CORTEX; ANTERIOR INSULA AB The perception of self and others is a key aspect of social cognition. In order to investigate the neurobiological basis of this distinction we reviewed two classes of task that study self-awareness and awareness of others (theory of mind, ToM). A reliable task to measure self-awareness is the recognition of one's own face in contrast to the recognition of others' faces. False-belief tasks are widely used to identify neural correlates of ToM as a measure of awareness of others. We performed an activation likelihood estimation meta-analysis, using the fMRI literature on self-face recognition and false-belief tasks. The brain areas involved in performing false-belief tasks were the medial prefrontal cortex (MPFC), bilateral temporo-parietal junction, precuneus, and the bilateral middle temporal gyrus. Distinct self-face recognition regions were the right superior temporal gyrus, the right parahippocampal gyrus, the right inferior frontal gyrus/anterior cingulate cortex, and the left inferior parietal lobe. Overlapping brain areas were the superior temporal gyrus, and the more ventral parts of the MPFC. We confirmed that self-recognition in contrast to recognition of others' faces, and awareness of others involves a network that consists of separate, distinct neural pathways, but also includes overlapping regions of higher order prefrontal cortex where these processes may be combined. 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PD MAR PY 2014 VL 8 IS 1 BP 24 EP 38 DI 10.1007/s11682-013-9266-8 PG 15 WC Neuroimaging SC Neurosciences & Neurology GA AB2QD UT WOS:000331636300003 PM 24535033 ER PT J AU Joseph, RM Fricker, Z Fenoglio, A Lindgren, KA Knaus, TA Tager-Flusberg, H AF Joseph, Robert M. Fricker, Zachary Fenoglio, Angela Lindgren, Kristen A. Knaus, Tracey A. Tager-Flusberg, Helen TI Structural asymmetries of language-related gray and white matter and their relationship to language function in young children with ASD SO BRAIN IMAGING AND BEHAVIOR LA English DT Article DE Autism; Children; Language; Brain; Magnetic resonance imaging; Magnetic resonance diffusion tensor imaging ID AUTISM SPECTRUM DISORDERS; DIFFUSION-TENSOR MRI; HUMAN BRAIN; ARCUATE FASCICULUS; PLANUM TEMPORALE; HEMISPHERIC ASYMMETRIES; CORTICAL ACTIVATION; ASSOCIATION CORTEX; LATERALIZATION; TRACTOGRAPHY AB Children with autism spectrum disorder (ASD) are highly variable in their language abilities, but the neural bases of these individual differences are poorly understood. Structural magnetic resonance imaging (MRI) and magnetic resonance diffusion tensor imaging (DTI) tractography were used to examine asymmetries in language-related gray- and white-matter and their relationships to language ability in a sample of 20 children with ASD, aged 4-7 years, and a reference sample of 20 typically developing (TD) children, aged 6-11 years. Children with ASD did not differ significantly from TD children in gray matter asymmetries, but were significantly less left-lateralized than TD children in the volume and radial diffusivity (RD) of the arcuate fasciculus (AF). They did not differ in the fractional anisotropy (FA) or the mean or axial diffusivity of the AF. Within the ASD group, exploratory analyses revealed that decreased leftward/increased rightward asymmetry of pars opercularis was associated with higher language ability and bilaterally increased FA and decreased RD of the AF. In conclusion, children with ASD exhibited atypical asymmetry in language-related white-matter structure as well as an atypical pattern of brain-language relationships that suggest that they may meet language milestones and acquire normal language via a different neurodevelopmental trajectory from TD children. C1 [Joseph, Robert M.; Fricker, Zachary; Fenoglio, Angela; Lindgren, Kristen A.; Knaus, Tracey A.; Tager-Flusberg, Helen] Boston Univ, Dept Anat & Neurobiol, Sch Med, Boston, MA 02118 USA. RP Joseph, RM (reprint author), Boston Univ, Dept Anat & Neurobiol, Sch Med, 72 E Concord St,L-816, Boston, MA 02118 USA. EM rmjoseph@bu.edu RI Joseph, Roy/D-8530-2015 FU National Association of Autism Research/Autism Speaks; NIDCD [U19 DC 03610] FX This research was funded by a pilot study grant from the National Association of Autism Research/Autism Speaks to R.M.J. and by NIDCD grant U19 DC 03610 to H.T-F. We thank the children and families who generously gave their time to participate. 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The activation of this premotor-parietal network displaying the so-called Mirror Mechanism (MM) was proposed to underpin basic forms of action understanding. However, the functional properties of the MM in children are still largely unknown. In order to address this issue, we recorded high-density EEG from 12 children (6 female, 6 male; average age 10.5, SD +/- 2.15). Data were collected when children observed video clips showing hands grasping objects in two different experimental conditions: (1) Full Vision, in which the motor act was fully visible; (2) Hidden, in which the interaction between the hand and the object was not visible. Event-related potentials (ERPs) and topographic map analyses were used to investigate the temporal pattern of the ERPs and their brain source of localization, employing a children template of the Montreal Neurological Institute. Results showed that two different parieto-premotor circuits are activated by the observation of object-related hand reaching-to-grasping motor acts in children. The first circuit comprises the ventral premotor and the inferior parietal cortices. The second one comprises the dorsal premotor and superior parietal cortices. The activation of both circuits is differently lateralized and modulated in time, and influenced by the amount of visual information available about the hand grasping-related portion of the observed motor acts. C1 [Berchio, Cristina; Gallese, Vittorio; Umilta, Maria A.] Univ Parma, Physiol Sect, Dept Neurosci, I-43125 Parma, Italy. [Michel, Christoph M.] Univ Hosp, Geneva, Switzerland. [Apicella, Fabio; Muratori, Filippo] Univ Pisa, Stella Maris Sci Inst, I-56018 Pisa, Italy. RP Berchio, C (reprint author), Univ Geneva, Funct Brain Mapping Lab, Dept Fundamental Neurosci, CH-1211 Geneva, Switzerland. EM cristina.berchio@unige.ch RI Centre d'imagerie Biomedicale, CIBM/B-5740-2012 FU Fondazione Monte Parma; EU grant Marie-Curie Initial Training Network [264828]; Ricerca Finalizzata-Programma Strategico Inquiry into disruption of intersubjective equipment in autistic spectrum disorders in childhood; National Center of Competence in Research (NCCR) "SYNAPSY-The Synaptic Bases of Mental Diseases"; Swiss National Science Foundation [51AU40_125759]; Center for Biomedical Imaging of Geneva, Switzerland; Center for Biomedical Imaging of Lausanne, Switzerland FX This research was supported by a fellowship by Fondazione Monte Parma to C. B., by the EU grant Marie-Curie Initial Training Network, "TESIS: Towards an Embodied Science of Inter Subjectivity" (FP7-PEOPLE-2010-ITN, 264828) to V. G., and by the "Ricerca Finalizzata 2007-Programma Strategico Inquiry into disruption of intersubjective equipment in autistic spectrum disorders in childhood". C. B., T. R. and C. M. were supported by the National Center of Competence in Research (NCCR) "SYNAPSY-The Synaptic Bases of Mental Diseases" financed by the Swiss National Science Foundation (Grant No. 51AU40_125759). The Cartool software (http://brainmapping.unige.ch/Cartool.htm) has been programmed by Denis Brunet and is supported by the Center for Biomedical Imaging of Geneva and Lausanne, Switzerland. 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PD MAR PY 2014 VL 27 IS 2 BP 258 EP 270 DI 10.1007/s10548-013-0314-x PG 13 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA AB2QP UT WOS:000331637500006 PM 24026809 ER PT J AU Parkinson, C Wheatley, T AF Parkinson, Carolyn Wheatley, Thalia TI Relating Anatomical and Social Connectivity: White Matter Microstructure Predicts Emotional Empathy SO CEREBRAL CORTEX LA English DT Article DE diffusion tensor imaging; empathy; mirror neurons; social cognition; superior longitudinal fasciculus ID TRANSCRANIAL MAGNETIC STIMULATION; INTERPERSONAL REACTIVITY INDEX; AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; CORPUS-CALLOSUM; DISPOSITIONAL EMPATHY; COGNITIVE EMPATHY; HUMAN BRAIN; MULTIDIMENSIONAL APPROACH; DISCONNECTION SYNDROME AB Understanding cues to the internal states of others involves a widely distributed network of brain regions. Although white matter (WM) connections are likely crucial for communication between these regions, the role of anatomical connectivity in empathic processing remains unexplored. The present study tested for a relationship between anatomical connectivity and empathy by assessing the WM microstructural correlates of affective empathy, which promotes interpersonal understanding through emotional reactions, and cognitive empathy, which does so via perspective taking. Associations between fractional anisotropy (FA) and the emotional (empathic concern, EC) and cognitive (perspective taking, PT) dimensions of empathy as assessed by the Interpersonal Reactivity Index were examined. EC was positively associated with FA in tracts providing communicative pathways within the limbic system, between perception and action-related regions, and between perception and affect-related regions, independently of individual differences in age, gender, and other dimensions of interpersonal reactivity. 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Cortex PD MAR PY 2014 VL 24 IS 3 BP 614 EP 625 DI 10.1093/cercor/bhs347 PG 12 WC Neurosciences SC Neurosciences & Neurology GA AB5RI UT WOS:000331845700005 PM 23162046 ER PT J AU Limperopoulos, C Chilingaryan, G Sullivan, N Guizard, N Robertson, RL du Plessis, AJ AF Limperopoulos, Catherine Chilingaryan, Gevorg Sullivan, Nancy Guizard, Nicolas Robertson, Richard L. du Plessis, Adre J. TI Injury to the Premature Cerebellum: Outcome is Related to Remote Cortical Development SO CEREBRAL CORTEX LA English DT Article DE cerebellum; cerebral cortex; magnetic resonance imaging; outcome; preterm ID COGNITIVE-AFFECTIVE SYNDROME; PRETERM INFANTS; RHESUS-MONKEY; RISK-FACTORS; FUNCTIONAL-DEVELOPMENT; SUPERIOR COLLICULUS; PREFRONTAL CORTEX; BASIS PONTIS; TERM; PROJECTIONS AB Cerebellar injury is an important complication of preterm birth with far-reaching neuropsychiatric sequelae. We have previously shown a significant association between isolated injury to the premature cerebellum and subsequent impairment of regional volumetric growth in the contralateral cerebrum. In the current study, we examine the relationship between these remote regional impairments of cerebral volumetric growth and domain-specific functional deficits in these children. In 40 ex-preterm infants with isolated cerebellar injury, we performed neurodevelopmental evaluations and quantitative magnetic resonance imaging (MRI) studies at a mean age of 34 months. We measured cortical gray matter volumes in 8 parcellated regions of each cerebral hemisphere, as well as right and left cerebellar volumes. We show highly significant associations between early signs of autism and dorsolateral prefrontal cortex volume (P 0.001); gross motor scores and sensorimotor cortical volumes (P 0.001); and cognitive and expressive language scores and premotor and mid-temporal cortical volumes (P 0.001). By multivariate analyses, each unit increase in the corresponding regional cerebral volume was associated with lower odds of abnormal outcome score, adjusted for age at MRI and contralateral cerebellar volume. This is the first report linking secondary impairment of remote cerebral cortical growth and functional disabilities in survivors of prematurity-related cerebellar brain injury. C1 [Limperopoulos, Catherine] Childrens Natl Med Ctr, Dept Diagnost Imaging & Radiol, Adv Pediat Brain Imaging Res Lab, Washington, DC 20010 USA. [Limperopoulos, Catherine; du Plessis, Adre J.] Childrens Natl Med Ctr, Washington, DC 20010 USA. [Limperopoulos, Catherine] George Washington Univ, Sch Med & Hlth Sci, Dept Pediat, Washington, DC 20010 USA. [Chilingaryan, Gevorg] Jewish Rehabil Hosp, Res Dept, Laval, PQ, Canada. [Sullivan, Nancy] Childrens Hosp Boston, Div Dev Med, Boston, MA, Canada. [Robertson, Richard L.] Childrens Hosp Boston, Dept Radiol, Boston, MA, Canada. [Guizard, Nicolas] McGill Univ, Montreal Neurol Inst, McConnell Brain Imaging Ctr, Montreal, PQ, Canada. RP Limperopoulos, C (reprint author), Childrens Natl Med Ctr, Dept Diagnost Imaging & Radiol, Adv Pediat Brain Imaging Res Lab, Washington, DC 20010 USA. EM climpero@childrensnational.org FU Hearst Foundation; National Institutes of Health [NINDS K24NS057568] FX This work is supported by the Hearst Foundation and the National Institutes of Health (NINDS K24NS057568). 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TI Neurogenesis and Maturation in Neonatal Brain Injury SO CLINICS IN PERINATOLOGY LA English DT Article DE Preterm birth; Neurogenesis; Neonatal brain injury; Cognitive delay ID WHITE-MATTER INJURY; CHRONIC PERINATAL HYPOXIA; DEVELOPING PRETERM BRAIN; LOW-BIRTH-WEIGHT; ENVIRONMENTAL ENRICHMENT; COGNITIVE DEFICITS; PREMATURE-INFANTS; DENTATE GYRUS; STEM-CELL; BORN AB The incidence of preterm birth is on the rise. The outcome of premature birth can vary widely, spanning completely normal development to severe neurologic deficits, with most children showing mild to moderate cognitive delay and increased incidence of neuropsychiatric conditions such as anxiety, attention deficit hyperactivity, and autism spectrum disorders. Several animal models have been employed to study the consequences of prematurity, one of the most promising being chronic perinatal hypoxia in mouse, which recapitulates the cognitive impairments, partial recovery over time and enhanced recovery with environmental enrichment. C1 [Salmaso, Natalina; Tomasi, Simone; Vaccarino, Flora M.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA. [Vaccarino, Flora M.] Yale Univ, Kavli Inst Neurosci, Dept Neurobiol, New Haven, CT 06520 USA. RP Vaccarino, FM (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, POB 207900, New Haven, CT 06520 USA. EM flora.vaccarino@yale.edu FU Fonds de Recherche en Sante du Quebec; Canadian Institute of Health Research FX We acknowledge Laura Ment, Vittorio Gallo, Tamas Horvath, Michael Schwartz, and Joseph Madri for useful discussions, and Allyson Vermaak for technical assistance. N.S. is the recipient of a postdoctoral fellowship from the Fonds de Recherche en Sante du Quebec (2009-2012) and the Canadian Institute of Health Research (2012-present). 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Perinatol. PD MAR PY 2014 VL 41 IS 1 BP 229 EP + DI 10.1016/j.clp.2013.10.007 PG 12 WC Obstetrics & Gynecology; Pediatrics SC Obstetrics & Gynecology; Pediatrics GA AB9SB UT WOS:000332134900016 PM 24524457 ER PT J AU Cuevas, K Cannon, EN Yoo, K Fox, NA AF Cuevas, Kimberly Cannon, Erin N. Yoo, Kathryn Fox, Nathan A. TI The infant EEG mu rhythm: Methodological considerations and best practices SO DEVELOPMENTAL REVIEW LA English DT Article DE EEG mu rhythm; Infants; Mirror neurons; Action perception ID AUTISM SPECTRUM DISORDERS; GOAL-DIRECTED ACTIONS; MIRROR NEURON SYSTEM; PRIMARY MOTOR CORTEX; HIGH-RESOLUTION EEG; ELECTROENCEPHALOGRAPHIC ACTIVITY; PREMOTOR CORTEX; ALPHA-RHYTHM; DESYNCHRONIZATION; EXECUTION AB The EEG mu rhythm, recorded from scalp regions overlying the sensorimotor cortex, appears to exhibit mirroring properties: It is reactive when performing an action and when observing another perform the same action. Recently, there has been an exponential increase in developmental mu rhythm research, partially due to the mu rhythm's potential role in our understanding of others' actions as well as a variety of other social and cognitive processes (e.g., imitation, theory of mind, language). Unfortunately, various methodological issues impede integrating these findings into a comprehensive theory of mu rhythm development. The present manuscript provides a review of the infant mu rhythm literature while focusing on current methodological problems that impede between study comparisons. By highlighting these issues and providing an in depth description and analysis we aim to heighten awareness and propose guidelines (when possible) that will promote rigorous infant mu rhythm research and facilitate between study comparisons. This paper is intended as a resource for developmental scientists, regardless of EEG expertise. (C) 2013 Elsevier Inc. All rights reserved. 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Rev. PD MAR PY 2014 VL 34 IS 1 BP 26 EP 43 DI 10.1016/j.dr.2013.12.001 PG 18 WC Psychology, Developmental SC Psychology GA AB9TJ UT WOS:000332138300002 ER PT J AU Miller, HL Odegard, TN Allen, G AF Miller, Haylie L. Odegard, Timothy N. Allen, Greg TI Evaluating information processing in Autism Spectrum Disorder: The case for Fuzzy Trace Theory SO DEVELOPMENTAL REVIEW LA English DT Article DE Autism Spectrum Disorder; Fuzzy Trace Theory; Cognition; Development; Memory; Gist ID HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE; CHILDRENS EYEWITNESS MEMORY; SIGNAL-DETECTION MODEL; FALSE MEMORIES; ASPERGER-SYNDROME; DECISION-MAKING; RECOLLECTION REJECTION; OLDER-ADULTS; CONJOINT RECOGNITION AB Literature on the developmental trajectory of cognition in Autism Spectrum Disorders (ASD) presents several inconsistent findings. In this review, we focus on information processing, and specifically, the use of gist and verbatim representations to guide memory, reasoning, and concept formation. The added perspective of Fuzzy Trace Theory may help to resolve mixed results regarding the frequency, nature, and effectiveness of gist processing in ASD by providing established process models and tasks suitable for use in individuals at all levels of functioning. In order to demonstrate the utility of FIT to the field of ASD research, we present evidence from three complementary theories-Weak Central Coherence (WCC), Executive Function (EF), and Theory of Mind (ToM)-which have dominated the landscape to date. We discuss the potential utility of FIT tasks and process models, proposing testable hypotheses that address ambiguous or conflicting results in the current literature. Applying a theory of typical development to the study of ASD may add value to past and future research. (C) 2013 Elsevier Inc. All rights reserved. C1 [Miller, Haylie L.] Univ N Texas, Hlth Sci Ctr, Dept Phys Therapy, Denton, TX 76203 USA. 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TI The Clinical Implications of High Levels of Autism Spectrum Disorder Features in Anorexia Nervosa: A Pilot Study SO EUROPEAN EATING DISORDERS REVIEW LA English DT Article DE outcomes; anorexia nervosa; eating disorders; autism spectrum disorder; clinical outcomes ID EATING-DISORDERS; DROPOUT; TRAITS; SCALE; MIND; AQ AB Objective This study examined autism spectrum disorder (ASD) features in relation to treatment completion and eating disorder psychopathology in anorexia nervosa (AN). Method Thirty-two adult women were recruited from specialist eating disorder services. Features of ASD and disordered eating were measured. Premature termination of treatment was recorded to explore whether ASD traits had impact on early discharge. A healthy control group was also recruited to investigate ASD traits between clinical and nonclinical samples. Results Significant differences were found between the AN group and the healthy control group in obsessive-compulsive disorder traits, depression and anxiety and ASD traits, with significant differences between groups in Social Skill and Attention Switching. The AN group reported no significant relationship between disordered eating severity and ASD traits. No significant effect was found between ASD features and treatment completion. Discussion Raw data on premature termination of treatment, despite no statistic impact, showed that seven out of the eight participants with high features of ASD completed treatment as planned compared with 50% of those with low ASD traits. Unexpectedly, this suggests enhanced treatment adherence in ASD. Copyright (c) 2013 John Wiley & Sons, Ltd and Eating Disorders Association. C1 [Huke, Vanessa; Turk, Jeremy; Kent, Andrew; Morgan, John. F.] Univ London, London, England. [Huke, Vanessa; Saeidi, Saeideh; Morgan, John. F.] Yorkshire Ctr Eating Disorders, Leeds, W Yorkshire, England. [Turk, Jeremy] South London & Maudsley NHS Fdn Trust, Southwark Child & Adolescent Mental Hlth Neurodev, London, England. [Turk, Jeremy] Kings Coll London, Inst Psychiat, London WC2R 2LS, England. RP Morgan, JF (reprint author), Seacroft Hosp, Newsam Ctr, Yorkshire Ctr Eating Disorders, Ward 6, Leeds LS146WB, W Yorkshire, England. 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PD MAR PY 2014 VL 22 IS 2 BP 116 EP 121 DI 10.1002/erv.2269 PG 6 WC Psychology, Clinical SC Psychology GA AB1HO UT WOS:000331542300005 PM 24277715 ER PT J AU Margari, L Lamanna, AL Craig, F Simone, M Gentile, M AF Margari, Lucia Lamanna, Anna Linda Craig, Francesco Simone, Marta Gentile, Mattia TI Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature SO EUROPEAN JOURNAL OF PEDIATRICS LA English DT Review DE XYY syndrome; Autism Spectrum Disorders; ASD; Y chromosome ID PERVASIVE DEVELOPMENTAL DISORDERS; KLINEFELTER SYNDROME; SEX-CHROMOSOMES; INFANTILE-AUTISM; 47,XYY SYNDROME; CHILDREN; BOYS; GENE; XXY; COMMUNICATION AB Abnormalities of the sex chromosomes (47, XXY, 47 XYY, 45,X/46,XY mosaicism) are frequently associated with Autism Spectrum Disorders (ASD), but the male predisposition to these disorders has not been clearly explained. Previously, the role of the X chromosome was considered important in the ASD mainly because autistic symptoms were detected in genetic syndromes involving X chromosome (fragile X syndrome, Rett syndrome, Klinefelter syndrome). Instead, few studies have analyzed the possible role of the Y chromosome in the ASD. This study explores the role of the Y chromosome in ASD through a systematic literature review about the association between ASD and XYY syndrome and a description of two new cases with this association. The literature review considered studies published in peer-reviewed journals, included in the MEDLINE and PubMed databases, that examined the association between ASD and XYY syndrome. Few studies reported the occurrence of ASD in children with XYY karyotype and the majority of them did not reported a well-defined autism diagnostic category associated with an extra Y chromosome, but several clinical conditions that are generically described as language and social impairment. Conclusion: This study underlines the underestimated role of the Y chromosome in ASD, and we postulate that all the ASD associated with the XYY karyotype may presumably fall within mild degree of ASD as in our cases. C1 [Margari, Lucia; Lamanna, Anna Linda; Craig, Francesco; Simone, Marta] Aldo Moro Univ Bari, Child Neuropsychiat Unit, Dept Basic Med Sci Neurosci & Sense Organs, Bari, Italy. [Gentile, Mattia] IRRCS Saverio de Bellis, Med Genet Unit, Dept Res, Bari, Italy. [Gentile, Mattia] Hosp Di Venere, Dept Med Genet, Bari, Italy. RP Margari, L (reprint author), Aldo Moro Univ Bari, Child Neuropsychiat Unit, Dept Basic Med Sci Neurosci & Sense Organs, Piazza Giulio Cesare 11, Bari, Italy. 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J. Pediatr. PD MAR PY 2014 VL 173 IS 3 BP 277 EP 283 DI 10.1007/s00431-014-2267-9 PG 7 WC Pediatrics SC Pediatrics GA AB7GL UT WOS:000331957500002 PM 24464091 ER PT J AU Bolton, S McDonald, D Curtis, E Kelly, S Gallagher, L AF Bolton, Suzanne McDonald, Denise Curtis, Emma Kelly, Stephanie Gallagher, Louise TI Autism in a recently arrived immigrant population SO EUROPEAN JOURNAL OF PEDIATRICS LA English DT Article DE Autism; Migrant health; Child psychiatry; Race and health; Community child health; Neurodevelopmental paediatrics ID RISK-FACTORS; DEVELOPMENTAL DISORDERS; INFANTILE-AUTISM; CHILDREN BORN; PREVALENCE; SWEDEN; EPIDEMIOLOGY; PARENTS; ORIGIN AB This study aims to establish whether children of an immigrant maternal population presented with a higher rate of autism than the indigenous population and to explore their presentation with regard to severity of symptoms, demographics and ethnicity. It is a retrospective case note analysis of 366 children who presented to the paediatric developmental service in the Adelaide and Meath incorporating the National Children's Hospital, Tallaght, Ireland between 2007 and 2009. During the study period, 366 children presented. Fifty-eight children (16 %) had mothers who were born in Africa and 53 (14 %) were born to mothers originating from a wider variety of countries. Two hundred and forty-eight children (68 %) had mothers born in Ireland. Maternal origin was not identified for seven children (2 %). An autistic spectrum disorder (ASD) was diagnosed in 131 children and speech and language delay in 132. Of the children with an ASD diagnosis, a higher proportion of the African cohort 13/18 (72.2 %) presented with moderate/severe cognitive disability compared to the Irish group 9/55(16.3 %), and the children in the African cohort showed a higher heritability with 36.9 % having a positive family history of autism reported compared to 26.3 % of the Irish cohort with an ASD diagnosis. Conclusion: This study highlights an observation of increased rates of ASD among a migrant population derived particularly from children born to mothers originating in Sub-Saharan Africa. This cohort is more severely affected. Further validation in an epidemiological sample is warranted, which if replicated, may help to identify possible aetiological risk factors. C1 [Bolton, Suzanne; Kelly, Stephanie] St James Hosp, Dept Child & Adolescent Psychiat, Trinity Ctr Hlth Sci, Dublin 8, Ireland. [Bolton, Suzanne] Natl Childrens Hosp Tallaght, Adelaide & Meath Inc, Dept Community Paediat, Dublin, Ireland. 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TI Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system SO MOLECULAR PSYCHIATRY LA English DT Article DE neurodevelopmental disorder; neuropsychiatric disorder; mental health disorder; gene networks; systems biology ID DEFICIT HYPERACTIVITY DISORDER; GENOME-WIDE ASSOCIATION; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; COPY NUMBER VARIANTS; HUMAN PROTEINPEDIA; BIPOLAR DISORDER; COMMON VARIANTS; GENE-EXPRESSION AB Many putative genetic factors that confer risk to neurodevelopmental disorders such as autism spectrum disorders (ASDs) and X-linked intellectual disability (XLID), and to neuropsychiatric disorders including attention deficit hyperactivity disorder (ADHD) and schizophrenia (SZ) have been identified in individuals from diverse human populations. Although there is significant aetiological heterogeneity within and between these conditions, recent data show that genetic factors contribute to their comorbidity. Many studies have identified candidate gene associations for these mental health disorders, albeit this is often done in a piecemeal fashion with little regard to the inherent molecular complexity. Here, we sought to abstract relationships from our knowledge of systems level biology to help understand the unique and common genetic drivers of these conditions. We undertook a global and systematic approach to build and integrate available data in gene networks associated with ASDs, XLID, ADHD and SZ. Complex network concepts and computational methods were used to investigate whether candidate genes associated with these conditions were related through mechanisms of gene regulation, functional protein-protein interactions, transcription factor (TF) and microRNA (miRNA) binding sites. Although our analyses show that genetic variations associated with the four disorders can occur in the same molecular pathways and functional domains, including synaptic transmission, there are patterns of variation that define significant differences between disorders. Of particular interest is DNA variations located in intergenic regions that comprise regulatory sites for TFs or miRNA. Our approach provides a hypothetical framework, which will help discovery and analysis of candidate genes associated with neurodevelopmental and neuropsychiatric disorders. C1 [Cristino, A. S.; Williams, S. M.; Hawi, Z.; An, J-Y; Bellgrove, M. A.; Claudianos, C.] Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia. [Hawi, Z.; Bellgrove, M. A.] Monash Univ, Sch Psychol & Psychiat, Melbourne, Vic 3004, Australia. [Schwartz, C. E.] Greenwood Genet Ctr, Greenwood, SC 29646 USA. [Costa, L. da F.] Univ Sao Paulo, Inst Fis Sao Carlos, Sao Paulo, Brazil. RP Claudianos, C (reprint author), Univ Queensland, Queensland Brain Inst, QBI Bldg 79, Brisbane, Qld 4072, Australia. EM a.cristino@uq.edu.au; c.claudianos@uq.edu.au RI Cristino, Alexandre/A-5834-2012; Costa, Luciano/H-5475-2011 OI Cristino, Alexandre/0000-0002-3468-0919; FU University of Queensland Post-doctoral Fellowship; ARC [110100292]; NHMRC of Australia [1008125]; NHMRC [569636, 569533, 1002458]; FAPESP [2011/50761-2]; CNPq Brazil [304351/2009-1] FX AS Cristino was supported by a University of Queensland Post-doctoral Fellowship. C Claudianos received funding support from the ARC (110100292) and NHMRC of Australia (1008125), MA Bellgrove from the NHMRC (569636; 569533; 1002458) and L da F Costa from FAPESP (2011/50761-2) and CNPq (304351/2009-1) Brazil. 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Psychiatr. PD MAR PY 2014 VL 19 IS 3 BP 294 EP 301 DI 10.1038/mp.2013.16 PG 8 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA AB7EH UT WOS:000331951600007 PM 23439483 ER PT J AU Kircher, M Witten, DM Jain, P O'Roak, BJ Cooper, GM Shendure, J AF Kircher, Martin Witten, Daniela M. Jain, Preti O'Roak, Brian J. Cooper, Gregory M. Shendure, Jay TI A general framework for estimating the relative pathogenicity of human genetic variants SO NATURE GENETICS LA English DT Article ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; HUMAN EXOMES; HUMAN GENOME; IN-VIVO; DATABASE; DISEASE; UPDATE; ELEMENTS AB Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes). 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C1 [O'Roak, Brian J.; Shendure, Jay] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. [Witten, Daniela M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Jain, Preti; Cooper, Gregory M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. RP Shendure, J (reprint author), Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. EM gcooper@hudsonalpha.org; shendure@uw.edu FU US NIH [U54HG006493, DP5OD009145, DP1HG007811] FX We thank P. Green and members of the Shendure laboratory for helpful discussions and suggestions. Our work was supported by US NIH grants U54HG006493 (to J.S. and G.M.C.), DP5OD009145 (to D.M.W.) and DP1HG007811 (to J.S.). 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PD MAR PY 2014 VL 26 IS 1 BP 215 EP 226 DI 10.1037/a0034472 PG 12 WC Psychology, Clinical SC Psychology GA AB5ZJ UT WOS:000331866900020 PM 24490680 ER PT J AU Steckler, T Spooren, W Murphy, D AF Steckler, Thomas Spooren, Will Murphy, Declan TI Autism spectrum disorders - an emerging area in psychopharmacology SO PSYCHOPHARMACOLOGY LA English DT Editorial Material C1 [Steckler, Thomas] Janssen Res & Dev, B-2340 Beerse, Belgium. [Spooren, Will] F Hoffmann La Roche, Basel, Switzerland. [Murphy, Declan] Kings Coll London, Sackler Inst Translat Neurodev, Inst Psychiat, London WC2R 2LS, England. RP Steckler, T (reprint author), Janssen Res & Dev, Turnhoutseweg 30, B-2340 Beerse, Belgium. 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TI Self-injurious behaviour in autistic children: a neuro-developmental theory of social and environmental isolation SO PSYCHOPHARMACOLOGY LA English DT Review DE Autism; Animal model; Anxiety; Environmental deprivation; Self-injurious behaviour; Socialization; Stereotypy; Stress; Limbic system; Romanian orphanage ID LESCH-NYHAN SYNDROME; DEXAMETHASONE SUPPRESSION TEST; SEROTONIN TRANSPORTER GENE; FRAGILE-X-SYNDROME; DEVELOPMENTALLY DISABLED POPULATION; SEPARATION ANXIETY SYNDROME; MONKEYS MACACA-MULATTA; RHESUS-MONKEYS; SPECTRUM DISORDER; REPETITIVE BEHAVIORS AB Self-injurious behaviour is not one of the three core symptoms that define autism. However, children on the autism spectrum appear to be particularly vulnerable. Afflicted children typically slap their faces, punch or bang their heads, and bite or pinch themselves. These behaviours can be extremely destructive, and they interfere with normal social and educational activities. However, the neurobiological mechanisms that confer vulnerability in children with autism have not been adequately described. This review explores behavioural and neurobiological characteristics of children with autism that may be relevant for an increased understanding of their vulnerability for self-injurious behaviour. Behavioural characteristics that are co-morbid for self-injurious behaviour in children with autism are examined. In addition, the contributions of social and environmental deprivation in self-injurious institutionalized orphans, isolated rhesus macaques, and additional animal models are reviewed. There is extensive evidence that social and environmental deprivation promotes self-injurious behaviour in both humans (including children with autism) and animal models. Moreover, there are multiple lines of convergent neuroanatomical, neurophysiological, and neurochemical data that draw parallels between self-injurious children with autism and environmentally deprived humans and animals. A hypothesis is presented that describes how the core symptoms of autism make these children particularly vulnerable for self-injurious behaviour. Relevant neurodevelopmental pathology is described in cortical, limbic, and basal ganglia brain regions, and additional research is suggested. C1 Univ Florida, Dept Psychol, Behav & Cognit Neurosci Program, Gainesville, FL 32611 USA. RP Devine, DP (reprint author), Univ Florida, Dept Psychol, Behav & Cognit Neurosci Program, POB 112250, Gainesville, FL 32611 USA. 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S. Murphy, Declan G. M. Simonoff, Emily Buitelaar, Jan K. Wong, Ian C. K. TI Psychopharmacological prescriptions for people with autism spectrum disorder (ASD): a multinational study SO PSYCHOPHARMACOLOGY LA English DT Article DE Autism spectrum disorder; Psychotropic drugs; Psychopharmacological prescribing ID PSYCHOTROPIC MEDICATION USE; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DISRUPTIVE BEHAVIOR DISORDER; PLACEBO-CONTROLLED TRIAL; ANTIPSYCHOTIC MEDICATION; PSYCHIATRIC-DISORDERS; REPETITIVE BEHAVIORS; UNITED-KINGDOM; PRIMARY-CARE; CHILDREN AB Previous studies on psychotropic drugs prescribing in autism spectrum disorder (ASD) were from the USA or the UK. However, these studies may not be generalizable to other countries. There is a need to understand the extent of psychopharmacological prescribing for ASD treatment at a multinational level to identify areas of prescribing which lack evidence. We used the IMS Prescribing Insights database to investigate psychotropic drugs prescribing patterns for ASD treatment in children and adults in 2010-2012. Data were obtained from Europe (France, Germany, Italy, Spain and UK), South America (Mexico and Brazil), North America (Canada and USA) and Asia (Japan). North American countries have the highest prescription rates, followed by the European and South American countries. Prescribing rates were higher in children compared to adults in individual countries. The most commonly prescribed drug for ASD was risperidone in young people (except in UK and Japan). In the UK, methylphenidate (34 %) was the most commonly prescribed for young people and haloperidol (44.1 %) in Japan. In adults, the most commonly prescribed drug class was antipsychotics and particularly risperidone (thioridazine and ziprasidone were the most prescribed antipsychotics in Brazil and USA, respectively). There is variation in medication prescription for people with ASD among countries, which may be attributable to diagnostic criteria, clinical guidelines or health care systems. However, there is a lack of evidence of efficacy and safety for many psychotropic drugs prescribed for people with ASD. Research is needed to bridge the evidence gaps in prescribing. C1 [Hsia, Yingfen; Wong, Angel Y. S.; Wong, Ian C. K.] Univ Hong Kong, Ctr Safe Medicat Practice & Res, Dept Pharmacol & Pharm, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China. [Murphy, Declan G. M.] Kings Coll London, Sackler Inst Translat Neurodev Res, Inst Psychiat, London WC2R 2LS, England. [Murphy, Declan G. M.] Kings Coll London, Dept Forens & Dev Sci, Inst Psychiat, London WC2R 2LS, England. [Simonoff, Emily] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England. [Simonoff, Emily] Kings Coll London, Biomed Res Ctr Mental Hlth, London WC2R 2LS, England. [Buitelaar, Jan K.] Radboud Univ Nijmegen, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, Med Ctr, NL-6525 ED Nijmegen, Netherlands. [Hsia, Yingfen; Wong, Ian C. K.] UCL, Ctr Paediat Pharm Res, Dept Practice & Policy, UCL Sch Pharm, London, England. RP Wong, ICK (reprint author), Univ Hong Kong, Ctr Safe Medicat Practice & Res, Dept Pharmacol & Pharm, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China. EM wongick@hku.hk FU Innovative Medicines Initiative (IMI), European Autism Interventions (EU-AIMS) [115300]; European Union company; EFPIA company; National Institute of Health Research (UK); Biomedical Research Centre at the Institute of Psychiatry, London, UK FX The research leading to these results has received support from the Innovative Medicines Initiative (IMI) Joint Undertaking under grant agreement no. 115300: European Autism Interventions (EU-AIMS), resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies in kind contribution. DM, IW and ES also received funding from the National Institute of Health Research (UK) for a program grant on this topic and for the neurodevelopmental theme in Biomedical Research Centre at the Institute of Psychiatry, London, UK. 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Hsia, Yingfen Glaser, Karen Simonoff, Emily Murphy, Declan G. M. Asherson, Philip J. Eklund, Hanna Wong, Ian C. K. TI Pharmacological treatments prescribed to people with autism spectrum disorder (ASD) in primary health care SO PSYCHOPHARMACOLOGY LA English DT Article DE Autistic spectrum disorder; Prevalence; Psychotropic drugs; Primary care; Co-morbidity; Children; Adolescents; Young adults ID PSYCHOTROPIC MEDICATION USE; PERVASIVE DEVELOPMENTAL DISORDERS; POPULATION-BASED SURVEILLANCE; PRACTICE RESEARCH DATABASE; PSYCHIATRIC-DISORDERS; ANTIPSYCHOTIC-DRUGS; CHILDREN; ADOLESCENTS; PREVALENCE; UK AB Autism spectrum disorders (ASDs) affect 1 % of children, having significant impact on health and social outcomes. Psychotropic medication use by individuals with ASD in the USA increased over time, and polypharmacy occurred in > 50 % of those prescribed. In the UK, no psychotropic drugs are approved in ASDs, and little is known about patterns of pharmacological treatment in the ASD population and associated co-morbidities. We used The Health Improvement Network, a nationally representative primary care database, to assess the prevalence of ASD diagnoses, psychotropic drug prescribing and neuropsychiatric co-morbidities of 0-24 year olds between 1992 and 2008. ASD prevalence increased 65-fold from 0.01 % (1992) to 0.50 % (2008). Psychotropic drugs were prescribed to 29 % (1,619/5,651) of the ASD cohort; the most prescribed drugs were sleep medication (9.7 % of prescribed patients), psychostimulants (7.9 %) and antipsychotics (7.3 %). More patients were given psychostimulants and sleep medications over time from 1.5-6.3 % and 2.2-5.9 % respectively. Thirty-seven per cent of the cohort had a parts per thousand yen1 record of a neuropsychiatric co-morbidity, the most common being developmental difficulties and learning disabilities (12.6 %), behavioural, conduct and personality disorders (11.1 %) and attention deficit hyperactivity disorder (7.5 %). British physicians are more conservative in prescribing practice than American colleagues. However, use of psychostimulants and antipsychotics is much higher in those with ASD than in the general population. Polypharmacy was seen in 34 % of prescribed patients in 2008. Additional studies examining use, efficacy, and long-term safety of antipsychotics and psychostimulants in autistic individuals are warranted. C1 [Murray, Macey L.; Hsia, Yingfen; Wong, Ian C. K.] UCL, Ctr Paediat Pharm Res, Dept Practice & Policy, UCL Sch Pharm, London, England. [Glaser, Karen; Eklund, Hanna] Kings Coll London, Dept Social Sci Hlth & Med, London WC2R 2LS, England. [Simonoff, Emily] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England. [Simonoff, Emily] Kings Coll London, Biomed Res Ctr Mental Hlth, London WC2R 2LS, England. [Murphy, Declan G. M.; Eklund, Hanna] Kings Coll London, Dept Forens & Dev Sci, Inst Psychiat, London WC2R 2LS, England. [Asherson, Philip J.] Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England. [Hsia, Yingfen; Wong, Ian C. K.] Univ Hong Kong, Ctr Safe Medicat Practice & Res, Dept Pharmacol & Pharm, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China. RP Murray, ML (reprint author), UCL, Ctr Paediat Pharm Res, Dept Practice & Policy, UCL Sch Pharm, London, England. EM macey.murray@ucl.ac.uk FU National Institute for Health; Innovative Medicines Initiative (IMI) under European Autism Interventions (EU-AIMS) [115300]; European Union company; EFPIA company FX The use of the THIN data was funded by the National Institute for Health Research Programme Grant for Applied Research: crossing the divide, effective treatments for people with neurodevelopmental disorders across the lifespan and intellectual ability. The research leading to these results has received support from the Innovative Medicines Initiative (IMI) Joint Undertaking under grant agreement no. 115300: European Autism Interventions (EU-AIMS), resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies in kind contribution. 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McDougle, Christopher J. TI Atypical antipsychotics in the treatment of children and adolescents with pervasive developmental disorders SO PSYCHOPHARMACOLOGY LA English DT Review DE Atypical antipsychotics; Autism; Autistic disorder; Irritability; Neuroleptics; Pervasive developmental disorders ID AUTISM SPECTRUM DISORDERS; LONG-TERM SAFETY; OPEN-LABEL TRIAL; BEHAVIORAL SYMPTOMS; DOUBLE-BLIND; RISPERIDONE TREATMENT; ARIPIPRAZOLE; IRRITABILITY; HALOPERIDOL; ZIPRASIDONE AB Autism and related pervasive developmental disorders (PDD) are characterized by impairments in social interaction and communication, restricted interests, and repetitive and stereotyped patterns of behavior. Individuals with PDD frequently display irritability and disruptive behaviors including tantrums, self-injurious behavior, and aggression. Atypical antipsychotics are currently the most efficacious pharmacological interventions available for treatment of irritability associated with PDD. This article aims to review the body of literature pertaining to the use of atypical antipsychotics in the treatment of patients with PDD. A PubMed literature search was conducted using the following key words: autism, pervasive developmental disorders, atypical antipsychotics, risperidone, aripiprazole, quetiapine, ziprasidone, olanzapine, clozapine, paliperidone, iloperidone, asenapine, and lurasidone. Search terms were limited to English language, human subjects, and publication from 1999 to present. Relevant references from identified articles were also reviewed. The efficacy and tolerability of risperidone and aripiprazole for the treatment of irritability in autism have been established with multi-site, randomized, controlled trials. Studies supporting the use of other atypical antipsychotics are either limited in scope or less robust in their findings, though newer agents such as ziprasidone and paliperidone show promise. Atypical antipsychotics are currently first-line pharmacological agents for the treatment of irritability and associated behaviors in children with PDD. Further placebo-controlled studies are warranted to characterize the efficacy and tolerability of the majority of these medications. There is also a need for the development of novel, targeted drugs with more favorable long-term side effect profiles. C1 [Politte, Laura C.; McDougle, Christopher J.] Harvard Univ, Sch Med, Dept Psychiat & Pediat, Lurie Ctr Autism,Massachusetts Gen Hosp,MassGen H, Lexington, MA 02421 USA. [Politte, Laura C.; McDougle, Christopher J.] Harvard Univ, Sch Med, Boston, MA USA. RP Politte, LC (reprint author), Harvard Univ, Sch Med, Dept Psychiat & Pediat, Lurie Ctr Autism,Massachusetts Gen Hosp,MassGen H, Lexington, MA 02421 USA. 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E. Schmeisser, Michael J. Krueger, Dilja D. Boeckers, Tobias M. Scheiffele, Peter Bourgeron, Thomas Brose, Nils Burbach, J. Peter H. TI Neurobiology of autism gene products: towards pathogenesis and drug targets SO PSYCHOPHARMACOLOGY LA English DT Review DE Autism spectrum disorders; Autism genetics; Dendritic protein synthesis; Autism drug targets; Neurexin; Neuroligin; SHANK; CNTNAP2; PTEN; Fragile X syndrome mousemodels ID FRAGILE-X-SYNDROME; TUMOR-SUPPRESSOR GENE; DE-NOVO MUTATIONS; SCAFFOLDING PROTEIN SHANK3; LHERMITTE-DUCLOS-DISEASE; COPY NUMBER VARIATION; SPECTRUM DISORDERS; NEURODEVELOPMENTAL DISORDERS; POSTSYNAPTIC DENSITY; MENTAL-RETARDATION AB The genetic heterogeneity of autism spectrum disorders (ASDs) is enormous, and the neurobiology of proteins encoded by genes associated with ASD is very diverse. Revealing the mechanisms on which different neurobiological pathways in ASD pathogenesis converge may lead to the identification of drug targets. The main objective is firstly to outline the main molecular networks and neuronal mechanisms in which ASD gene products participate and secondly to answer the question how these converge. Finally, we aim to pinpoint drug targets within these mechanisms. Literature review of the neurobiological properties of ASD gene products with a special focus on the developmental consequences of genetic defects and the possibility to reverse these by genetic or pharmacological interventions. The regulation of activity-dependent protein synthesis appears central in the pathogenesis of ASD. Through sequential consequences for axodendritic function, neuronal disabilities arise expressed as behavioral abnormalities and autistic symptoms in ASD patients. Several known ASD gene products have their effect on this central process by affecting protein synthesis intrinsically, e.g., through enhancing the mammalian target of rapamycin (mTOR) signal transduction pathway or through impairing synaptic function in general. These are interrelated processes and can be targeted by compounds from various directions: inhibition of protein synthesis through Lovastatin, mTOR inhibition using rapamycin, or mGluR-related modulation of synaptic activity. ASD gene products may all feed into a central process of translational control that is important for adequate glutamatergic regulation of dendritic properties. This process can be modulated by available compounds but may also be targeted by yet unexplored routes. C1 [Kleijer, Kristel T. E.; Burbach, J. Peter H.] Univ Med Ctr Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, NL-3984 CG Utrecht, Netherlands. [Schmeisser, Michael J.; Boeckers, Tobias M.] Univ Ulm, Inst Anat & Cell Biol, D-89081 Ulm, Germany. [Krueger, Dilja D.; Brose, Nils] Max Planck Inst Expt Med, Dept Mol Neurobiol, D-37075 Gottingen, Germany. [Scheiffele, Peter] Univ Basel, Biozentrum, CH-4056 Basel, Switzerland. [Bourgeron, Thomas] Inst Pasteur, F-75724 Paris 15, France. RP Burbach, JPH (reprint author), Univ Med Ctr Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, Univ Sweg 100, NL-3984 CG Utrecht, Netherlands. EM j.p.h.burbach@umcutrecht.nl FU EU-AIMS (European Autism Interventions); Innovative Medicines Initiative [115300]; European Union from the European Federation of Pharmaceutical Industries Associations companies' [P7/2007-2013]; Autism Speaks; European Commission EUROSPIN; SynSys Consortia [FP7HEALTHF22009241498, FP7HEALTH F22009242167]; Alexander von Humboldt Foundation; European Commission; Deutsche Forschungsgemeinschaft (DFG) [BO1718/4-1]; Ulm University [L.SBN.0081] FX Authors of this review were supported by EU-AIMS (European Autism Interventions), which receives support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, the resources of which are composed of financial contributions from the European Union's Seventh Framework Programme (grant P7/2007-2013), from the European Federation of Pharmaceutical Industries and Associations companies' in-kind contributions, and from Autism Speaks, resulting in a total of (sic)29.6 million. N.B. was supported by the European Commission EUROSPIN and SynSys Consortia (FP7HEALTHF22009241498, FP7HEALTH F22009242167). D. D. K. is a recipient of a fellowship of the Alexander von Humboldt Foundation and a Marie Curie International Reintegration Grant of the European Commission. Research is further supported by the Deutsche Forschungsgemeinschaft (DFG, BO1718/4-1 to T. M. B.) and by the Baustein program of Ulm University (L.SBN.0081 to M.J.S.). 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2014 VL 231 IS 6 BP 1037 EP 1062 DI 10.1007/s00213-013-3403-3 PG 26 WC Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA AB8FL UT WOS:000332025500006 PM 24419271 ER PT J AU Vorstman, JAS Spooren, W Persico, AM Collier, DA Aigner, S Jagasia, R Glennon, JC Buitelaar, JK AF Vorstman, Jacob A. S. Spooren, Will Persico, Antonio M. Collier, David A. Aigner, Stefan Jagasia, Ravi Glennon, Jeffrey C. Buitelaar, Jan K. TI Using genetic findings in autism for the development of new pharmaceutical compounds SO PSYCHOPHARMACOLOGY LA English DT Review DE Autism; Genes; Neurobiology; Pharmaceutical compounds; Biomarker ID FRAGILE-X-SYNDROME; TUBEROUS SCLEROSIS COMPLEX; OXYTOCIN RECEPTOR OXTR; RANDOMIZED CONTROLLED-TRIAL; SUPPORT VECTOR MACHINES; MGLUR5 ANTAGONIST MPEP; COPY NUMBER VARIATION; DE-NOVO MUTATIONS; BTBR MOUSE MODEL; SPECTRUM DISORDERS AB The main reason for the current lack of effective treatments for the core symptoms of autism is our limited understanding of the biological mechanisms underlying this heterogeneous group of disorders. A primary value of genetic research is enhancing our insight into the biology of autism through the study of identified autism risk genes. In the current review we discuss (1) the genes and loci that are associated with autism, (2) how these provide us with essential cues as to what neurobiological mechanisms may be involved, and (3) how these mechanisms may be used as targets for novel treatments. Next, we provide an overview of currently ongoing clinical trials registered at clinicaltrials.gov with a variety of compounds. Finally, we review current approaches used to translate knowledge derived from gene discovery into novel pharmaceutical compounds and discuss their pitfalls and problems. An increasing number of genetic variants associated with autism have been identified. This will generate new ideas about the biological mechanisms involved in autism, which in turn may provide new leads for the development of novel pharmaceutical compounds. To optimize this pipeline of drug discovery, large-scale international collaborations are needed for gene discovery, functional validation of risk genes, and improvement of clinical outcome measures and clinical trial methodology in autism. C1 [Vorstman, Jacob A. S.] Univ Med Ctr Utrecht, Dept Psychiat, Brain Ctr Rudolf Magnus, NL-3485 CX Utrecht, Netherlands. [Spooren, Will; Aigner, Stefan; Jagasia, Ravi] F Hoffmann La Roche, Neurosci DTA, CH-4070 Basel, Switzerland. [Persico, Antonio M.] Univ Campus Biomed, Child & Adolescent NeuroPsychiat Unit, I-00128 Rome, Italy. [Persico, Antonio M.] IRCCS Fdn Santa Lucia, Dept Expt Neurosci, I-00143 Rome, Italy. [Persico, Antonio M.] Mafalda Luce Ctr Pervas Dev Disorders, Milan, Italy. [Collier, David A.] Eli Lilly & Co Ltd, Discovery Neurosci Res, Lilly Res Labs, Windlesham GU20 6PH, Surrey, England. [Glennon, Jeffrey C.; Buitelaar, Jan K.] Radboud Univ Nijmegen, Dept Cognit Neurosci, Med Ctr, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands. RP Vorstman, JAS (reprint author), Univ Med Ctr Utrecht, Dept Psychiat, Brain Ctr Rudolf Magnus, A001-468,Heidelberglaan 100, NL-3485 CX Utrecht, Netherlands. EM j.a.s.vorstman@umcutrecht.nl FU Innovative Medicines Initiative [115300]; European Union company; EFPIA company; Autism Speaks FX The research of EU-AIMS receives support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, the resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013), from the EFPIA companies in kind contribution and from Autism Speaks. 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Kathuria, Annie Lucchesi, Walter Wood, Victoria Dixon, Rosemary Ogilvie, Caroline Steckler, Thomas Price, Jack TI The utility of patient specific induced pluripotent stem cells for the modelling of Autistic Spectrum Disorders SO PSYCHOPHARMACOLOGY LA English DT Article DE Induced pluripotent stem cells; Autism; SHANK3 ID POSTSYNAPTIC DENSITY PROTEINS; SINGLE POLYCISTRONIC VECTOR; HUMAN IPS CELLS; HUMAN KERATINOCYTES; DELETION SYNDROME; PURKINJE-CELLS; SOMATIC-CELLS; GENERATION; DIFFERENTIATION; EXPRESSION AB Until now, models of psychiatric diseases have typically been animal models. Whether they were to be used to further understand the pathophysiology of the disorder, or as drug discovery tools, animal models have been the choice of preference in mimicking psychiatric disorders in an experimental setting. While there have been cellular models, they have generally been lacking in validity. This situation is changing with the advent of patient-specific induced pluripotent stem cells (iPSCs). In this article, we give a methodological evaluation of the current state of the iPS technology with reference to our own work in generating patient-specific iPSCs for the study of autistic spectrum disorder (ASD). In addition, we will give a broader perspective on the validity of this technology and to what extent it can be expected to complement animal models of ASD in the coming years. C1 [Cocks, Graham; Gami, Priya; Uwanogho, Dafe; Jeffries, Aaron R.; Kathuria, Annie; Lucchesi, Walter; Wood, Victoria; Dixon, Rosemary; Price, Jack] Kings Coll London, Dept Neurosci, James Black Ctr, London WC2R 2LS, England. [Curran, Sarah] Inst Psychiat, Child & Adolescent Psychiat Dept, London, England. [Curran, Sarah] Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London, England. [Ogilvie, Caroline] Guys & St Thomas NHS Fdn Trust, Guys & St Thomas Ctr, Preimplantat Genet Diag & Genet Ctr, London, England. [Steckler, Thomas] Janssen Res & Dev, Neurosci Discovery, Beerse, Belgium. RP Price, J (reprint author), Kings Coll London, Dept Neurosci, James Black Ctr, 125 Coldharbour Lane, London WC2R 2LS, England. EM jack.price@kcl.ac.uk RI Jeffries, Aaron/D-1256-2014 OI Jeffries, Aaron/0000-0002-1235-8291 FU agency for Innovation by Science and Technology (IWT), Ellipsgebouw, Brussels (Belgium); IWT O&O project, project title: the generation of human iPS cells for drug discovery iPS [IWT 090574]; National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust; Institute of Psychiatry, King's College London; NIHR; Innovative Medicines Initiative [115300]; European Union company; EFPIA company FX We acknowledge the financial support of the agency for Innovation by Science and Technology (IWT), Ellipsgebouw, Brussels (Belgium). IWT O&O project nr: IWT 090574, project title: the generation of human iPS cells for drug discovery iPS.We acknowledge the financial support of the National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, King's College London. This article presents independent research funded by the NIHR. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.The research leading to these results has received support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies' in kind contribution. 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Andreae, Laura C. Jagasia, Ravi TI Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dish SO PSYCHOPHARMACOLOGY LA English DT Review DE Autism; Autism spectrum disorder; Human pluripotent stem cells; Human embryonic stem cells; Disease modeling; Induced pluripotent stem cell; Neuronal differentiation; Neurogenesis ID FRAGILE-X-SYNDROME; EFFICIENT NEURAL CONVERSION; CPG-BINDING PROTEIN-2; COPY-NUMBER VARIATION; RARE DE-NOVO; RETT-SYNDROME; TIMOTHY SYNDROME; MOUSE MODEL; PARKINSONS-DISEASE; MENTAL-RETARDATION AB Autism spectrum disorder (ASD) is characterized by deficits in language development and social cognition and the manifestation of repetitive and restrictive behaviors. Despite recent major advances, our understanding of the pathophysiological mechanisms leading to ASD is limited. Although most ASD cases have unknown genetic underpinnings, animal and human cellular models of several rare, genetically defined syndromic forms of ASD have provided evidence for shared pathophysiological mechanisms that may extend to idiopathic cases. Here, we review our current knowledge of the genetic basis and molecular etiology of ASD and highlight how human pluripotent stem cell-based disease models have the potential to advance our understanding of molecular dysfunction. We summarize landmark studies in which neuronal cell populations generated from human embryonic stem cells and patient-derived induced pluripotent stem cells have served to model disease mechanisms, and we discuss recent technological advances that may ultimately allow in vitro modeling of specific human neuronal circuitry dysfunction in ASD. We propose that these advances now offer an unprecedented opportunity to help better understand ASD pathophysiology. This should ultimately enable the development of cellular models for ASD, allowing drug screening and the identification of molecular biomarkers for patient stratification. C1 [Aigner, Stefan; Jagasia, Ravi] F Hoffmann La Roche Ltd, Neurosci Res & Early Clin Dev, CH-4070 Basel, Switzerland. [Heckel, Tobias; Zhang, Jitao D.] F Hoffmann La Roche Ltd, Translat Technol & Bioinformat, Nonclin Safety, CH-4070 Basel, Switzerland. [Andreae, Laura C.] Kings Coll London, MRC Ctr Dev Neurobiol, London SE1 1UL, England. RP Jagasia, R (reprint author), F Hoffmann La Roche Ltd, Neurosci Res & Early Clin Dev, CH-4070 Basel, Switzerland. EM laura.andreae@kcl.ac.uk; ravi.jagasia@roche.com FU Innovative Medicines Initiative [115300]; European Union company; EFPIA company; Roche Postdoctoral Fellowship (RPF) FX The authors have received support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies' in kind contribution. S. A. was supported by a Roche Postdoctoral Fellowship (RPF). We thank Veronica Costa for providing the cell cultures and Fred Knoflach for recording the multielectrode array data used for Fig. 3. 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Colvin, Ellen M. Fouillet, Antoine Langron, Emily Roell, William C. Li, Jingling Mathur, Sachin X. Mogg, Adrian J. Schmitt, Matthew G. Felder, Christian C. Merchant, Kalpana M. Isaac, John Broad, Lisa M. Sher, Emanuele Ursu, Daniel TI Pharmacological characterisation of ligand- and voltage-gated ion channels expressed in human iPSC-derived forebrain neurons SO PSYCHOPHARMACOLOGY LA English DT Article DE IPSC; Stem cells; Ion channels; Glutamate receptors; GABA(A) receptors ID PLURIPOTENT STEM-CELLS; CULTURED CORTICAL-NEURONS; AUTISM SPECTRUM DISORDERS; SYNAPTIC NMDA RECEPTORS; RNAS ENCODING SUBUNITS; D-ASPARTATE RECEPTOR; CALCIUM TRANSIENTS; GENE-EXPRESSION; GABA RESPONSES; RAT NEOCORTEX AB Genetic causes, or predisposition, are increasingly accepted to be part of the ethiopathogenesis of many neuropsychiatric diseases. While genes can be studied in any type of cells, their physiological function in human brain cells is difficult to evaluate, particularly in living subjects. As a first step towards the characterisation of human inducible pluripotent stem cell (iPSC)-derived neurons from autism spectrum disorder (ASD) patients, we used gene expression and functional studies to define the regional identity of the typical forebrain differentiation, demonstrate expression patterns of genes of interest in ASD and understand the properties of 'control' iPSC-derived neurons (iCell-Neurons (TM)), with a focus on receptors and ion channels that play a central role in synaptic physio-pathology. The gene expression profile of the iCell-Neurons (TM) closely resembled that observed in neonatal prefrontal cortex tissues. Functional studies, performed mainly using calcium flux assays, demonstrated the presence of ionotropic glutamate (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid and N-methyl-d-aspartate) and gamma-aminobutyric acid type A receptors. Voltage-gated sodium and calcium channels were also identified using similar techniques. Overall, the results reported here suggest that iCell-Neurons (TM) are a good cellular model of a relatively immature forebrain human neuron population that can be used both as a control in comparison to patients cells, and as host cells in which mutations, insertions and deletions can be used in order to study the molecular mechanisms of ASD and other neurological disorders in an isogenic cellular background. C1 [Dage, Jeffrey L.; Roell, William C.; Li, Jingling; Mathur, Sachin X.; Schmitt, Matthew G.; Felder, Christian C.; Merchant, Kalpana M.] Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA. [Colvin, Ellen M.; Fouillet, Antoine; Langron, Emily; Mogg, Adrian J.; Isaac, John; Broad, Lisa M.; Sher, Emanuele; Ursu, Daniel] Eli Lilly & Co, Lilly Res Ctr, Windlesham GU20 6PH, Surrey, England. RP Ursu, D (reprint author), Eli Lilly & Co, Lilly Res Ctr, Windlesham GU20 6PH, Surrey, England. EM Ursu_Daniel@lilly.com FU Innovative Medicines Initiative [115300]; European Union company; EFPIA company FX We gratefully acknowledge the contributions of Nicholas Reising (Advanced Testing Laboratories) for cell culture support and the Discovery Chemistry Synthesis Group at Eli Lilly for the synthesis of compounds. We would also like to thank our collaborators from Cellular Dynamics International Inc for providing samples from the differentiation runs studied and time in culture as well as the iCell-Neurons (TM). The research leading to these results has received support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no 115300, resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007 - 2013) and EFPIA companies' in kind contribution. 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Based on the existing literature, we have generated an inventory of applied rodent behavioural testing paradigms relevant to autism spectrum disorders (ASD). This inventory focused on previously used paradigms that assess behavioural domains that are affected in ASD, such as social interaction, social communication, repetitive behaviours and behavioural inflexibility, cognition as well as anxiety behaviour. A wide range of behavioural testing paradigms for rodents were identified. However, the level of face and construct validity is highly variable. The predictive validity of these paradigms is unknown, as etiology-directed treatments for ASD are currently not on the market. To optimise these studies, future efforts should address aspects of reproducibility and take into account data about the neurodevelopmental underpinnings and trajectory of ASD. In addition, with the increasing knowledge of processes underlying ASD, such as sensory information processes and synaptic plasticity, phenotyping efforts should include multi-level automated analysis of, for example, representative task-related behavioural and electrophysiological read-outs. C1 [Kas, Martien J.; Burbach, J. Peter H.] Univ Med Ctr Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, Utrecht, Netherlands. [Glennon, Jeffrey C.; Buitelaar, Jan] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands. [Glennon, Jeffrey C.; Buitelaar, Jan] Radboud Univ Nijmegen, Med Ctr, Karakter Child & Adolescent Psychiat Univ Ctr, NL-6525 ED Nijmegen, Netherlands. [Ey, Elodie] Inst Pasteur, Paris, France. [Ey, Elodie] Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, Paris, France. [Ey, Elodie] Univ Paris Diderot, Sorbonne Paris Cite, Paris, France. [Biemans, Barbara] F Hoffmann La Roche Ltd, Dept Neurosci, CH-4070 Basel, Switzerland. [Crawley, Jacqueline] Univ Calif Davis, Dept Psychiat & Behav Sci, Sch Med Sacramento, Sacramento, CA 95817 USA. [Ring, Robert H.; Lajonchere, Clara] Autism Speaks, Princeton, NJ USA. [Lajonchere, Clara] Univ So Calif, Keck Sch Med, Dept Biomed Engn, Los Angeles, CA 90033 USA. [Esclassan, Frederic] Eli Lilly & Co Ltd, Lilly Ctr Cognit Neurosci, Lilly Res Labs, Windlesham GU20 6PH, Surrey, England. [Talpos, John; Steckler, Thomas] Janssen Res & Dev, B-2340 Beerse, Belgium. [Noldus, Lucas P. J. J.] Noldus Informat Technol BV, Wageningen, Netherlands. RP Kas, MJ (reprint author), Univ Med Ctr Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, Utrecht, Netherlands. EM m.j.h.kas@umcutrecht.nl FU Innovative Medicines Initiative [115300]; European Union company; EFPIA company; Autism Speaks FX The authors participate in the EU-AIMS project that receives support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013), from the EFPIA companies in kind contribution and from Autism Speaks. 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TI Advancing the discovery of medications for autism spectrum disorder using new technologies to reveal social brain circuitry in rodents SO PSYCHOPHARMACOLOGY LA English DT Review DE Autism spectrum disorder; Animal model; Social behavior; Neural circuitry ID TUBEROUS SCLEROSIS COMPLEX; FRAGILE-X-SYNDROME; FEMALE PRAIRIE VOLES; MGLUR5 ANTAGONIST MPEP; DE-NOVO MUTATIONS; MOUSE MODEL; IN-VIVO; REPETITIVE BEHAVIOR; NUCLEUS-ACCUMBENS; GENE-EXPRESSION AB Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by core differences and impairments in social behavioral functioning. There are no approved medications for improving social cognition and behavior in ASD, and the underlying mechanisms needed to discover safer, more effective medications are unclear. In this review, we diagram the basic neurocircuitry governing social behaviors in order to provide a neurobiological framework for the origins of the core social behavioral symptoms of ASD. In addition, we discuss recent technological innovations in research tools that provide unprecedented observation of cellular morphology and activity deep within the intact brain and permit the precise control of discrete brain regions and specific cell types at distinct developmental stages. The use of new technologies to reveal the neural circuits underlying social behavioral impairments associated with ASD is advancing our understanding of the brain changes underlying ASD and enabling the discovery of novel and effective therapeutic interventions. C1 [Kas, Martien J.] Univ Med Ctr Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, NL-3584 CG Utrecht, Netherlands. [Modi, Meera E.] Pfizer Worldwide Res & Dev, Cambridge, MA 02139 USA. [Saxe, Michael D.] F Hoffmann La Roche Ltd, CH-4070 Basel, Switzerland. [Smith, Daniel G.] Autism Speaks Inc, Boston, MA 02109 USA. RP Smith, DG (reprint author), Autism Speaks Inc, 85 Devonshire St, Boston, MA 02109 USA. 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Kuennecke, Basil TI Neuroimaging Endophenotypes in Animal Models of Autism Spectrum Disorders: Lost or Found in Translation? SO PSYCHOPHARMACOLOGY LA English DT Review DE Animal models; Autism; CNV; Endophenotypes; MRI; MRS; Serotonin; Synaptic cell adhesion molecules; SyndromicASD; Valproic acid ID FRAGILE-X-SYNDROME; MAGNETIC-RESONANCE SPECTROSCOPY; INBRED MOUSE STRAINS; POSTSYNAPTIC DENSITY PROTEINS; FUNCTIONAL CONNECTIVITY MRI; WHOLE-BLOOD SEROTONIN; FMR1 KNOCKOUT MICE; RETT-SYNDROME; CORPUS-CALLOSUM; WHITE-MATTER AB Autism spectrum disorder(s) (ASDs) is a neurodevelopmental disorder characterized by stereotyped behaviours and impairments in communication and social interactions. This heterogeneity has been a major obstacle in uncovering the aetiology and biomarkers of ASDs. Rodent models with genetic modifications or environmental insults have been created to study particular endophenotypes and bridge the gap between genetics and behavioural phenotypes. Translational neuroimaging modalities with their ability to screen the brain noninvasively and yield structural, biochemical and functional information provide a unique platform for discovery and evaluation of such endophenotypes in preclinical and clinical research. We reviewed literature on translational neuroimaging in rodent models of ASDs. The most prominent models will be described and the respective neuroimaging endophenotypes will be discussed with reference to human data. A perspective on future directions of translational neuroimaging in animal models of ASDs will be given. To date, we experience a proliferation of rodent models which recapitulate specific liabilities identified in ASDs patients. Translational neuroimaging in these models is emerging but is skewed towards magnetic resonance imaging (MRI) modalities. Volumetric and structural assessments of the brain are dominating and a host of endophenotypes have been reported that allude to findings in ASDs patients but with only few to converge among the models. Caveats of current studies are the diverging biological conditions related to genetic background and age of the animals. It is anticipated that longitudinal and functional assessments will gain much importance and will help elucidating mechanistic relationship between behavioural and structural endophenotypes. C1 [Petrinovic, Marija M.; Kuennecke, Basil] F Hoffmann La Roche & Cie AG, PRED, DTA Neurosci, CH-4070 Basel, Switzerland. RP Kunnecke, B (reprint author), F Hoffmann La Roche & Cie AG, PRED, DTA Neurosci, Bldg 68,Room 327A,Grenzacherstr 124, CH-4070 Basel, Switzerland. EM basil.kuennecke@roche.com FU Innovative Medicines Initiative [115300]; European Union company; EFPIA company; Roche Postdoctoral Fellowship Program FX The research leading to these results has received support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies' in kind contribution. M. M. P. was supported by the Roche Postdoctoral Fellowship Program. 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Lin, Rick C. S. Paul, Ian A. TI Lasting neurobehavioral abnormalities in rats after neonatal activation of serotonin 1A and 1B receptors: possible mechanisms for serotonin dysfunction in autistic spectrum disorders SO PSYCHOPHARMACOLOGY LA English DT Article DE Selective serotonin reuptake inhibitor; Autism; Antidepressant; Serotonin; Development; Sensory systems; Social behavior; Neonatal exposure; Citalopram; 8-OH-DPAT; CGS-12066B; WAY-100635; GR-127935 ID KNOCK-OUT MICE; MONOAMINE-OXIDASE; EXTRACELLULAR SEROTONIN; REUPTAKE INHIBITORS; ANIMAL-MODEL; ANTIDEPRESSANT EXPOSURE; WITHDRAWAL SYNDROME; BRAIN-DEVELOPMENT; 5-HT1B RECEPTORS; OLFACTORY-BULB AB Perinatal exposure of rats to selective serotonin reuptake inhibitors (SSRIs) produces sensory and social abnormalities paralleling those seen in autistic spectrum disorders (ASDs). However, the possible mechanism(s) by which this exposure produces behavioral abnormalities is unclear. We hypothesized that the lasting effects of neonatal SSRI exposure are a consequence of abnormal stimulation of 5-HT1A and/or 5-HT1B receptors during brain development. We examined whether such stimulation would result in lasting sensory and social deficits in rats in a manner similar to SSRIs using both direct agonist stimulation of receptors as well as selective antagonism of these receptors during SSRI exposure. Male and female rat pups were treated from postnatal days 8 to 21. In Experiment 1, pups received citalopram (20 mg/kg/day), saline, (+/-)-8-hydroxy-dipropylaminotetralin hydrobromide (8-OH-DPAT; 0.5 mg/kg/day) or 7-trifluoromethyl-4(4-methyl-1-piperazinyl)-pyrrolo[1,2-a]-quinoxaline dimaleate (CGS-12066B; 10 mg/kg/day). In Experiment 2, a separate cohort of pups received citalopram (20 mg/kg/day), or saline which was combined with either N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-2-pyridinylcyclo-hexanecarboxamide maleate (WAY-100635; 0.6 mg/kg/day) or N-[4-methoxy-3-(4-methyl-1-piperazinyl)phenyl]-2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)-1-1'-biphenyl-4-carboxamide (GR-127935; 6 mg/kg/day) or vehicle. Rats were then tested in paradigms designed to assess sensory and social response behaviors at different time points during development. Direct and indirect neonatal stimulation of 5-HT1A or 5-HT1B receptors disrupts sensory processing, produces neophobia, increases stereotypic activity, and impairs social interactions in manner analogous to that observed in ASD. Increased stimulation of 5-HT1A and 5-HT1B receptors plays a significant role in the production of lasting social and sensory deficits in adult animals exposed as neonates to SSRIs. C1 [Khatri, Nidhi; Paul, Ian A.] Univ Mississippi, Med Ctr, Dept Pharmacol & Toxicol, Jackson, MS 39216 USA. [Simpson, Kimberly L.; Lin, Rick C. S.] Univ Mississippi, Med Ctr, Dept Neurobiol & Anat Sci, Jackson, MS 39216 USA. [Simpson, Kimberly L.; Lin, Rick C. S.; Paul, Ian A.] Univ Mississippi, Med Ctr, Dept Psychiat & Human Behav, Jackson, MS 39216 USA. RP Paul, IA (reprint author), Univ Mississippi, Med Ctr, Dept Psychiat & Human Behav, 2500 North State St, Jackson, MS 39216 USA. EM ipaul@umc.edu FU NIMH, NCRR [MH08194, RR017701] FX The authors thank Emily C. Nichols for her excellent technical assistance. This study was supported by the NIMH, NCRR through grant numbers MH08194 and RR017701 CR AGHAJANIAN G. 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TI Biomarkers in autism spectrum disorder: the old and the new SO PSYCHOPHARMACOLOGY LA English DT Review DE Autism; Biobank; Biomarker; Endophenotype; Macrocephaly; Melatonin; Metabolomics; Oxytocin; Serotonin ID HIGH-FUNCTIONING AUTISM; INFORMATION-MANAGEMENT SYSTEM; PRINCIPAL PATHOGENETIC COMPONENTS; OXYTOCIN RECEPTOR GENE; WEAK CENTRAL COHERENCE; RARE DE-NOVO; PLATELET SEROTONIN; EXECUTIVE FUNCTION; MICROARRAY DATA; MINIMUM INFORMATION AB Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder with onset during early childhood and typically a life-long course. The majority of ASD cases stems from complex, 'multiple-hit', oligogenic/polygenic underpinnings involving several loci and possibly gene-environment interactions. These multiple layers of complexity spur interest into the identification of biomarkers able to define biologically homogeneous subgroups, predict autism risk prior to the onset of behavioural abnormalities, aid early diagnoses, predict the developmental trajectory of ASD children, predict response to treatment and identify children at risk for severe adverse reactions to psychoactive drugs. The present paper reviews (a) similarities and differences between the concepts of 'biomarker' and 'endophenotype', (b) established biomarkers and endophenotypes in autism research (biochemical, morphological, hormonal, immunological, neurophysiological and neuroanatomical, neuropsychological, behavioural), (c) -omics approaches towards the discovery of novel biomarker panels for ASD, (d) bioresource infrastructures and (e) data management for biomarker research in autism. Known biomarkers, such as abnormal blood levels of serotonin, oxytocin, melatonin, immune cytokines and lymphocyte subtypes, multiple neuropsychological, electrophysiological and brain imaging parameters, will eventually merge with novel biomarkers identified using unbiased genomic, epigenomic, transcriptomic, proteomic and metabolomic methods, to generate multimarker panels. Bioresource infrastructures, data management and data analysis using artificial intelligence networks will be instrumental in supporting efforts to identify these biomarker panels. Biomarker research has great heuristic potential in targeting autism diagnosis and treatment. C1 [Ruggeri, Barbara; Schumann, Gunter] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London SE5 8AF, England. [Sarkans, Ugis] European Bioinformat Inst, European Mol Biol Lab, Cambridge CB10, England. [Persico, Antonio M.] Univ Campus Biomed, Child & Adolescent NeuroPsychiat Unit, Lab Mol Psychiat & Neurogenet, I-00128 Rome, Italy. RP Persico, AM (reprint author), Univ Campus Biomed, Child & Adolescent NeuroPsychiat Unit, 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 (PRIN) [2006058195, 2008BACT54_002]; Italian Ministry of Health [RFPS-2007-5-640174, RF-2011-02350537]; Fondazione Gaetano e Mafalda Luce (Milan, Italy); Autism Aid ONLUS (Naples, Italy); Autism Speaks (Princeton, NJ); Autism Research Institute (San Diego, CA); European Molecular Biology Laboratory (EMBL); Innovative Medicines Initiative Joint Undertaking (EU-AIMS) [115300] FX This work was supported by the Italian Ministry for University, Scientific Research and Technology (PRIN no. 2006058195 and no. 2008BACT54_002), the Italian Ministry of Health (RFPS-2007-5-640174 and RF-2011-02350537), the Fondazione Gaetano e Mafalda Luce (Milan, Italy), Autism Aid ONLUS (Naples, Italy), Autism Speaks (Princeton, NJ), the Autism Research Institute (San Diego, CA), the European Molecular Biology Laboratory (EMBL), and the Innovative Medicines Initiative Joint Undertaking (EU-AIMS, no. 115300). 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Gomez-Mancilla, Baltazar Neri, Giovanni Willemsen, Rob Gasparini, Fabrizio TI Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development SO PSYCHOPHARMACOLOGY LA English DT Review DE Fragile X syndrome; mGluR5; FMR1; FMRP; DNA methylation; Epigenetic regulation; AFQ056; Mavoglurant; Dendritic spines; mGluR5 antagonist ID MENTAL-RETARDATION PROTEIN; FMR1 KNOCKOUT MICE; NEGATIVE ALLOSTERIC MODULATORS; MOUSE MODEL; MESSENGER-RNA; FULL MUTATION; NONCOMPETITIVE ANTAGONISTS; SYNAPTIC STRUCTURE; DNA DEMETHYLATION; VALPROIC ACID AB Fragile X syndrome (FXS) is considered the leading inherited cause of intellectual disability and autism. In FXS, the fragile X mental retardation 1 (FMR1) gene is silenced and the fragile X mental retardation protein (FMRP) is not expressed, resulting in the characteristic features of the syndrome. Despite recent advances in understanding the pathophysiology of FXS, there is still no cure for this condition; current treatment is symptomatic. Preclinical research is essential in the development of potential therapeutic agents. This review provides an overview of the preclinical evidence supporting metabotropic glutamate receptor 5 (mGluR5) antagonists as therapeutic agents for FXS. According to the mGluR theory of FXS, the absence of FMRP leads to enhanced glutamatergic signaling via mGluR5, which leads to increased protein synthesis and defects in synaptic plasticity including enhanced long-term depression. As such, efforts to develop agents that target the underlying pathophysiology of FXS have focused on mGluR5 modulation. Animal models, particularly the Fmr1 knockout mouse model, have become invaluable in exploring therapeutic approaches on an electrophysiological, behavioral, biochemical, and neuroanatomical level. Two direct approaches are currently being investigated for FXS treatment: reactivating the FMR1 gene and compensating for the lack of FMRP. The latter approach has yielded promising results, with mGluR5 antagonists showing efficacy in clinical trials. Targeting mGluR5 is a valid approach for the development of therapeutic agents that target the underlying pathophysiology of FXS. Several compounds are currently in development, with encouraging results. C1 [Pop, Andreea S.; Willemsen, Rob] Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands. [Gomez-Mancilla, Baltazar; Gasparini, Fabrizio] Novartis Pharma AG, Novartis Inst BioMed Res Basel, CH-4002 Basel, Switzerland. [Neri, Giovanni] Catholic Univ, Inst Med Genet, Sch Med, I-00168 Rome, Italy. RP Willemsen, R (reprint author), Erasmus MC, Dept Clin Genet, Room Ee 971a,POB 2040, NL-3000 CA Rotterdam, Netherlands. EM r.willemsen@erasmusmc.nl; fabrizio.gasparini@novartis.com FU Netherlands Organisation for Health Research and Development (ZonMw) [912-07-022]; E-Rare program entitled "Cure FXS" [EU/FIS PS09102673]; FRAXA Research Foundation; Telethon [GGP10150]; Associazione Italiana Sindrome X Fragile; Novartis Pharmaceuticals FX FG and BGM are employees of Novartis Pharma AG and hold shares with Novartis Pharma AG. FG and BGM have also received reimbursement from Novartis Pharma AG for travel expenses. GN received honoraria and compensation from Novartis for providing biological samples as part of a collaborative project. This work was supported by The Netherlands Organisation for Health Research and Development (ZonMw) 912-07-022 (AP and RW), E-Rare program entitled "Cure FXS" (no. EU/FIS PS09102673) (RW), FRAXA Research Foundation (RW and GN), Telethon (GGP10150) (GN) and Associazione Italiana Sindrome X Fragile (GN). Financial support for medical editorial assistance was provided by Novartis Pharmaceuticals. We thank Emma Burke, of iMed Comms, who provided medical writing assistance with this review. The authors have full control of all primary data and agree to allow Psychopharmacology to review the data if requested. 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Levenga, Josien de Esch, Celine E. F. Buijsen, Ronald A. M. Nieuwenhuizen, Ingeborg M. Li, Tracy Isaacs, Aaron Gasparini, Fabrizio Oostra, Ben A. Willemsen, Rob TI Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant SO PSYCHOPHARMACOLOGY LA English DT Article DE Fragile X syndrome; FMRP; Dendritic spines; Hippocampal CA1; AFQ056/Mavoglurant; FMR1 ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; KNOCKOUT MICE; MESSENGER-RNAS; MOUSE MODEL; NEURONS; CORTEX; IDENTIFICATION; DISORDERS; SYNAPSES AB Fragile X syndrome (FXS) is the leading monogenic cause of intellectual disability and autism. The disease is a result of lack of expression of the fragile X mental retardation protein. Brain tissues of patients with FXS and mice with FMRP deficiency have shown an abnormal dendritic spine phenotype. We investigated the dendritic spine length and density of hippocampal CA1 pyramidal neurons in 2-, 10-, and 25-week-old Fmr1 knockout (KO). Next, we studied the effects of long-term treatment with an mGluR5 antagonist, AFQ056/Mavoglurant, on the spine phenotype in adult Fmr1 KO mice. We observed alterations in the spine phenotype during development, with a decreased spine length in 2-week-old Fmr1 KO mice compared with age-match wild-type littermates, but with increased spine length in Fmr1 KO mice compared with 10- and 25-week-old wild-type controls. No difference was found in spine density at any age. We report a rescue of the abnormal spine length in adult Fmr1 KO mice after a long-term treatment with AFQ056/Mavoglurant. This finding suggests that long-term treatment at later stage is sufficient to reverse the structural spine abnormalities and represents a starting point for future studies aimed at improving treatments for FXS. C1 [Pop, Andreea S.; de Esch, Celine E. F.; Buijsen, Ronald A. M.; Nieuwenhuizen, Ingeborg M.; Li, Tracy; Oostra, Ben A.; Willemsen, Rob] Erasmus MC, CBG Dept Clin Genet, NL-3015GE Rotterdam, Netherlands. [Levenga, Josien] NYU, Sch Med, Smilow Neurosci Program, New York, NY 10016 USA. [Isaacs, Aaron] Erasmus MC, Unit Genet Epidemiol, Dept Epidemiol, NL-3015GE Rotterdam, Netherlands. [Gasparini, Fabrizio] Novartis Inst Biomed Res, Neurosci Discovery Grp, CH-4002 Basel, Switzerland. [Willemsen, Rob] Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands. RP Willemsen, R (reprint author), Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands. EM r.willemsen@erasmusmc.nl FU Netherlands Organisation for Health Research and Development (ZonMw) [912-07-022]; E-Rare program entitled "Cure FXS" [EU/FIS PS09102673] FX This work was supported by a grant from the Netherlands Organisation for Health Research and Development (ZonMw, no. 912-07-022) (RW) and from the E-Rare program entitled "Cure FXS" (no. EU/FIS PS09102673) (RW). 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Recent trials of novel FXS therapies have highlighted several challenges including subpopulations with possibly differential therapeutic responses, the lack of specific outcome measures capturing the full range of improvements of patients with FXS, and a lack of biomarkers that can track whether a specific mechanism is responsive to a new drug and whether the response correlates with clinical improvement. We review the phenotypic heterogeneity of FXS and the implications for clinical research in FXS and other neurodevelopmental disorders. Residual levels of fragile X mental retardation protein (FMRP) expression explain in part the heterogeneity in the FXS phenotype; studies indicate a correlation with both cognitive and behavioral deficits. However, this does not fully explain the extent of phenotypic variance observed or the variability of drug response. Post hoc analyses of studies involving the selective mGluR5 antagonist mavoglurant and the GABA(B) agonist arbaclofen have uncovered significant therapeutic responses following patient stratification according to FMR1 promoter methylation patterns or baseline severity of social withdrawal, respectively. Future studies designed to quantify disease modification will need to develop new strategies to track changes effectively over time and in multiple symptom domains. Appropriate selection of patients and outcome measures is central to optimizing future clinical investigations of these complex disorders. C1 [Jacquemont, Sebastien] CHU Vaudois, Serv Genet Med, CH-1011 Lausanne, Switzerland. [Berry-Kravis, Elizabeth] Rush Univ, Dept Pediat, Med Ctr, Chicago, IL 60612 USA. [Berry-Kravis, Elizabeth] Rush Univ, Dept Neurol Sci, Med Ctr, Chicago, IL 60612 USA. [Berry-Kravis, Elizabeth] Rush Univ, Dept Biochem, Med Ctr, Chicago, IL 60612 USA. [Hagerman, Randi] UC Davis Hlth Syst, MIND Inst, Sacramento, CA 95817 USA. [Hagerman, Randi] UC Davis Hlth Syst, Dept Pediat, Sacramento, CA 95817 USA. [von Raison, Florian; Apostol, George] Novartis Pharma AG, Neurosci Dev, CH-4056 Basel, Switzerland. [Gasparini, Fabrizio; Ufer, Mike; Gomez-Mancilla, Baltazar] Novartis Inst BioMed Res Basel, CH-4056 Basel, Switzerland. [Des Portes, Vincent] Univ Lyon, Natl Reference Ctr Fragile X & Other XLMR, Hosp Civils Lyon, Bron, France. [Des Portes, Vincent] CNRS UMR 5304 L2C2, Bron, France. RP Gomez-Mancilla, B (reprint author), Novartis Inst BioMed Res Basel, Forum 1,Novartis Campus, CH-4056 Basel, Switzerland. EM baltazar.gomezmancilla@novartis.com FU Novartis Pharmaceuticals FX Financial support for medical editorial assistance was provided by Novartis Pharmaceuticals. We thank Georgina Collett, Ph.D., and Kerrie O'Rourke, Ph.D., of iMed Comms, who provided medical writing assistance with this review. 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10.1111/j.1601-183X.2005.00136.x NR 70 TC 9 Z9 10 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0033-3158 EI 1432-2072 J9 PSYCHOPHARMACOLOGY JI Psychopharmacology PD MAR PY 2014 VL 231 IS 6 BP 1237 EP 1250 DI 10.1007/s00213-013-3289-0 PG 14 WC Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA AB8FL UT WOS:000332025500018 PM 24173622 ER PT J AU Khanna, R Jariwala-Parikh, K West-Strum, D Mahabaleshwarkar, R AF Khanna, Rahul Jariwala-Parikh, Krutika West-Strum, Donna Mahabaleshwarkar, Rohan TI Health-related quality of life and its determinants among adults with autism SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Adults; Health-related quality of life; Social support; Coping ID PERCEIVED SOCIAL SUPPORT; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; MULTIDIMENSIONAL SCALE; ASPERGER-SYNDROME; CARE UTILIZATION; MORTALITY; COMMUNITY; CHILDREN; OUTCOMES AB The purpose of this study was to determine health-related quality of life (HRQOL) among adults with autism, and compare it to the HRQOL of the general adult population in the United States (US). Factors predicting HRQOL of adults with autism were also identified. A cross-sectional online survey was conducted to gather study information. From adults with autism registered with the Interactive Autism Network (IAN), those aged 18 years and above and having the capacity to self-report were identified and approached for study participation. The final sample included 291 adults with autism. One-way t-test revealed adults with autism to have significantly lower physical and mental HRQOL than their counterparts in the US population. Using linear regression analysis, modifiable factors including social support and coping along with other socio-demographic and medial characteristics were identified as significant predictors of physical and mental HRQOL. Greater perceived adequacy of social support from friends and family was associated with better HRQOL, while greater use of maladaptive coping was associated with lower HRQOL. Clinicians and other health interventionist should consider assessing these factors among adults with autism, and provide necessary capabilities to these adults with the aim of improving their HRQOL. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Khanna, Rahul; Jariwala-Parikh, Krutika; West-Strum, Donna; Mahabaleshwarkar, Rohan] Univ Mississippi, Sch Pharm, Dept Pharm Adm, University, MS 38677 USA. RP Khanna, R (reprint author), Univ Mississippi, Sch Pharm, Dept Pharm Adm, Faser Hall 236, University, MS 38677 USA. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 157 EP 167 DI 10.1016/j.rasd.2013.11.003 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500001 ER PT J AU Lin, CS AF Lin, Chu-Sui TI Early language learning profiles of young children with autism: Hyperlexia and its subtypes SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Computer-assisted assessment; Hyperlexia; Subtypes ID SPECTRUM-DISORDER; WORD RECOGNITION; SKILLS; COMPREHENSION AB This study utilized a standardized and comprehensive computer-aided language assessment tool to identify the early learning characteristics (e.g., hyperlexia) of young children with autism. The tool consisted of six subtests: decoding, homographs, auditory vocabulary comprehension, visual vocabulary comprehension, auditory sentence comprehension, and visual sentence comprehension. Thirty-five children with ASD between the ages of 4 and 6 from Tao-Yuan County in Taiwan participated in the study. Fifteen children with ASD whose decoding performance was 1 standard deviation above the norm of age-matched typically developing children were identified as hyperlexic and selected for further analysis. Five potential hyperlexic subtypes of language learning profiles emerged from this group of children with ASD. This study revealed the heterogeneous nature of language learning characteristics of young children with autism. Such findings have important implications for preschool teachers and other early interventionists who seek to develop specific strategies that capitalize on the learning strengths of young children with ASD. (C) 2013 Elsevier Ltd. All rights reserved. C1 Chung Yuan Christian Univ, Dept Special Educ, Chungli 32023, Taiwan. RP Lin, CS (reprint author), Chung Yuan Christian Univ, Dept Special Educ, 200 Chung Pei Rd, Chungli 32023, Taiwan. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 168 EP 177 DI 10.1016/j.rasd.2013.11.004 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500002 ER PT J AU Matson, JL Rieske, RD AF Matson, Johnny L. Rieske, Robert D. TI Are outcome measures for early intensive treatment of autism improving? SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism Spectrum Disorders; Early Intensive Behavioral Intervention (E-IBI); Methodology; Assessment ID PERVASIVE DEVELOPMENTAL DISORDER; RANDOMIZED CONTROLLED-TRIAL; EARLY INTERVENTION PROGRAMS; SPECTRUM DISORDERS; BEHAVIORAL INTERVENTION; YOUNG-CHILDREN; PDD-NOS; CHALLENGING BEHAVIORS; TODDLERS; COMMUNICATION AB Autism Spectrum Disorders (ASD) are lifelong conditions which can be very debilitating. This disorder can be identified within the first two years of life, thus spurring the popularity of Early Intensive Behavioral Interventions (EIBI). Since 1987, the number of studies has been increasing as efficacy has been established. There has been a broad and inconsistent set of methods and procedures to establish experimental groups, evaluate treatment outcome, and assessing family reactions to treatment. In 2007, Matson noted that most EIBI studies failed to address many important dependent variables include the measurement of core symptoms of ASD. This study evaluates dependent variables used to assess the factors noted above, separated into studies published before 2008 compared to 2008 and later. Results are an indication that improvements are occurring, especially on the measurement of core symptoms of ASD; however, considerably more improvement is needed. (C) 2013 Elsevier Ltd. All rights reserved. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 178 EP 185 DI 10.1016/j.rasd.2013.11.006 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500003 ER PT J AU Williams, LW Matson, JL Beighley, JS Rieske, RD Adams, HL AF Williams, Lindsey W. Matson, Johnny L. Beighley, Jennifer S. Rieske, Robert D. Adams, Hilary L. TI Comorbid symptoms in toddlers diagnosed with autism spectrum disorder with the DSM-IV-TR and the DSM-5 criteria SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Comorbidity; DSM-5; BISCUIT ID PERVASIVE DEVELOPMENTAL DISORDER; CHALLENGING BEHAVIORS; PDD-NOS; CHILDREN; ADULTS; EPILEPSY; INFANTS; ANXIETY; TRAITS; RATES AB Autism spectrum disorder (ASD) is correlated with a high probability of comorbid psychopathology. Comorbid symptoms are often equally impairing and deserving of intervention. With publication of the DSM-5, it is likely that many children who would have met the previous DSM-IV-TR criteria for ASD will not be diagnosed under the current criteria. The aim of this study is to examine common comorbid symptom categories (i.e., tantrum/conduct, inattention/impulsivity, avoidance, anxiety/repetitive behavior, and eating/sleep problems) of children who exhibit significant ASD symptoms but do not meet DSM-5 criteria. The study included toddlers who meet DSM-5 criteria for ASD; 320 who meet DSM-IV-TR criteria only, and a comparison group of 1951 atypically developing toddlers referred for evaluation but who did not meet either set of ASD criteria. Unsurprisingly, toddlers meeting the more stringent DSM-5 ASD criteria also exhibited greater comorbid symptoms, especially anxiety/repetitive behavior. Those who met only DSM-IV-TR criteria exhibited more comorbid symptoms than the atypically developing group in all categories, most notably inattention/impulsivity and tantrum/conduct. As the new DSM-5 criteria are adopted, researchers and clinicians should consider those who do not meet criteria for ASD may still have symptoms warranting assessment or intervention. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Williams, Lindsey W.; Matson, Johnny L.; Beighley, Jennifer S.; Rieske, Robert D.; Adams, Hilary L.] Louisiana State Univ, Baton Rouge, LA 70803 USA. RP Williams, LW (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. EM lwil175@lsu.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT American Psychiatric Association, 2013, DIAGN STAT MAN MENT Bejerot S, 2001, NORD J PSYCHIAT, V55, P169 Bryson S. 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PD MAR PY 2014 VL 8 IS 3 BP 186 EP 192 DI 10.1016/j.rasd.2013.11.007 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500004 ER PT J AU Adams, HL Matson, JL Cervantes, PE Goldin, RL AF Adams, Hilary L. Matson, Johnny L. Cervantes, Paige E. Goldin, Rachel L. TI The relationship between autism symptom severity and sleep problems: Should bidirectionality be considered? SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Sleep problems; Symptom severity ID PERVASIVE DEVELOPMENTAL DISORDER; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; CHALLENGING BEHAVIORS; ANXIETY DISORDERS; CHILDREN; DIAGNOSIS; ADULTS; INFANTS; PSYCHOPATHOLOGY AB Prior research assessing the relationship between autism spectrum disorder (ASD) symptom severity and sleep problems has considered the association in a unidirectional manner; researchers have primarily focused on how sleep difficulties affect ASD symptom presentation. Specifically, extant research literature on this topic indicates that sleep problems exacerbate ASD symptom severity. The present study provides an investigation of this topic in a bidirectional manner. Primary results corroborated the compounding effect of sleep problems on ASD symptom severity. 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TI Temporal and diagnostic influences on the expression of comorbid psychopathology symptoms in infants and toddlers with Autism Spectrum Disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Comorbid psychopathology; Baby and Infant Screen for Children with a-Utlsm; Traits-Part 2; Autism Spectrum Disorder; Stability ID PERVASIVE DEVELOPMENTAL DISORDER; INTENSIVE BEHAVIORAL INTERVENTION; PSYCHIATRIC-DISORDERS; PDD-NOS; INTELLECTUAL DISABILITY; CHALLENGING BEHAVIORS; TRAITS BISCUIT; YOUNG-CHILDREN; SCREEN; BABY AB In an attempt to increase the specificity and sensitivity the diagnostic criteria for ASD has been recently modified. Aside from the impact the diagnostic rates, these changes also have implications for the study of comorbid symptoms in the ASD population. As we refine the criteria for the ASD category we must also seek to improve our understanding of the manifestation of comorbid psychopathology within ASD populations. The current study sought to examine diagnostic and temporal influences on the expression of comorbid psychopathology symptoms in 205 infants and toddlers ranging in age from 17 to 37 months. Participants were separated into two groups based on their diagnoses (i.e., Autism Spectrum Disorder [ASD] and atypical development without an ASD). The BISCUIT-Part 2 was administered on two separate occasions, with the initial and follow up assessment occurring within one of two time intervals (4-8 months, or 9-13 months). Results from the current study indicate that the time between initial and follow up assessments is a significant factor influencing symptom expression. In addition to the temporal influence, it was observed that children diagnosed with ASD exhibit significantly less stable symptoms of comorbid psychopathology. Implications of these findings are discussed. (C) 2013 Elsevier Ltd. All rights reserved. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 200 EP 208 DI 10.1016/j.rasd.2013.11.009 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500006 ER PT J AU Matson, JL Goldin, RL AF Matson, Johnny L. Goldin, Rachel L. TI What is the future of assessment for autism spectrum disorders: Short and long term SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism spectrum disorders; Assessment; Diagnosis; Current practices; Calibrating autism treatment ID CHILDHOOD SCHIZOPHRENIA; INFANT SCREEN; PDD-NOS; CHILDREN; BEHAVIORS; DIAGNOSIS; ADULTS; SKILLS; PSYCHOPATHOLOGY; INDIVIDUALS AB The autism spectrum disorders (ASD) are common, debilitating and life long. Thus, early identification of the disorder is considered to be critically important. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 209 EP 213 DI 10.1016/j.rasd.2013.01.007 PG 5 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500007 ER PT J AU Tobin, MC Drager, KDR Richardson, LF AF Tobin, Megan C. Drager, Kathryn D. R. Richardson, Laura F. TI A systematic review of social participation for adults with autism spectrum disorders: Support, social functioning, and quality of life SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism; Adults; Social participation; Social support ID ASPERGER-SYNDROME; YOUNG-ADULTS; INDIVIDUALS; ADOLESCENTS; CHILDHOOD; FEASIBILITY; CHALLENGES; STUDENTS; MEN AB A systematic review of the literature was conducted to investigate what is currently known about support for social participation for adults with autism spectrum disorders (ASD). A computerized database search followed by hand searching was conducted to locate empirical studies published after 1995 in peer-reviewed journals that described social participation or social support for adults with ASD. 14 studies were identified, evaluated for strength of evidence, and organized into topical themes. These studies focused on support for social participation from two perspectives: social functioning and quality of life (QoL). Supporting social functioning and social participation is important, as this is one route through which individuals with ASD may be able to form relationships and establish natural support networks, which can in turn contribute to QoL. In addition, working to improve social skills is of key importance as social functioning heavily impacts outcomes in a variety of areas. 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PD MAR PY 2014 VL 8 IS 3 BP 214 EP 229 DI 10.1016/j.rasd.2013.12.002 PG 16 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500008 ER PT J AU Damiano, CR Aloi, J Burrus, C Garbutt, JC Kampov-Polevoy, AB Dichter, GS AF Damiano, Cara R. Aloi, Joseph Burrus, Caley Garbutt, James C. Kampov-Polevoy, Alexei B. Dichter, Gabriel S. TI Intact hedonic responses to sweet tastes in autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder (ASD); Reward processing; Sweet taste; Opioid system; Primary rewards ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL RESPONSIVENESS SCALE; ALCOHOL DEPENDENCE; NALTREXONE TREATMENT; NUCLEUS-ACCUMBENS; GENETIC-VARIATION; OPIOID-PEPTIDES; NOVELTY SEEKING; FAMILY-HISTORY; QUOTIENT AQ AB The Sweet Taste Test (STT) is a standardized measure designed to index the ability to detect differences in sweet tastes (sweet taste sensitivity) and hedonic responses to sweet tastes (sweet taste liking). Profiles of response on the STT suggest enhanced hedonic responses to sweet tastes in psychiatric disorders characterized by dysfunctional reward processing systems, including binge-eating disorders and substance use disorders, and a putative mechanism governing STT responses is the brain opioid system. The present study examined STT responses in 20 adults with autism spectrum disorder (ASD) and 38 healthy control adults. There were no differences in sweet taste sensitivity or hedonic response to sweet tastes between the ASD and control groups. Within the ASD sample, ASD symptom severity was associated with sweet taste sensitivity, but not hedonic response to sweet taste. Results may ultimately shed light on brain opioid system functioning in ASD. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Damiano, Cara R.; Aloi, Joseph; Dichter, Gabriel S.] UNC CH, Dept Psychol, Chapel Hill, NC 27599 USA. [Burrus, Caley] Duke Univ, Dept Psychol & Neurosci, Durham, NC 27705 USA. [Garbutt, James C.; Kampov-Polevoy, Alexei B.] Univ N Carolina, Sch Med, Bowles Ctr Alcohol Studies, Chapel Hill, NC 27599 USA. [Garbutt, James C.; Kampov-Polevoy, Alexei B.; Dichter, Gabriel S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 230 EP 236 DI 10.1016/j.rasd.2013.12.003 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500009 ER PT J AU Yoshimura, S Toichi, M AF Yoshimura, Sayaka Toichi, Motomi TI A lack of self-consciousness in Asperger's disorder but not in PDDNOS: Implication for the clinical importance of ASD subtypes SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder (ASD); Subtyping; Self-consciousness; Self-information processing; Memory ID AUTISTIC-CHILDREN; INCIDENTAL MEMORY; EPISODIC MEMORY; RECOGNITION; ADOLESCENTS; AWARENESS; COGNITION; ADULTS AB Self-consciousness plays an important role in a person's social life. Assuming that self-consciousness is a key to understanding social impairments in high-functioning autism spectrum disorder (ASD), we examined self-consciousness in individuals with Asperger's disorder, pervasive developmental disorder not otherwise specified (PDDNOS) and their controls using an episodic memory task. The PDDNOS group consisted of individuals in a milder subgroup of PDDNOS, with less autistic features than Asperger's disorder. In the learning phase, one of three types of questions (phonological, semantic, self-referential) was asked about each following target word. The target words were all personality trait adjectives. Next, a recognition test was conducted. The PDDNOS group, like the control, showed the most superior performance in self-referential processing (i.e. the self-reference effect) while the Asperger's group did not; however, both the ASD groups revealed an atypical pattern of relationship between memory performance and IQ. Individuals with PDDNOS, unlike those with Asperger's disorder, may be self-conscious to the same degree as typically developing individuals, but the cognitive process leading them to self-consciousness seems atypical, causing social impairments similar to those seen in individuals with Asperger's disorder who lack self-consciousness. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Yoshimura, Sayaka] Kyoto Univ, Grad Sch Med, Dept Psychiat, Sakyo Ku, Kyoto 6068507, Japan. [Toichi, Motomi] Kyoto Univ, Grad Sch Med, Fac Human Hlth Sci, Sakyo Ku, Kyoto 6068507, Japan. RP Yoshimura, S (reprint author), Kyoto Univ, Grad Sch Med, Dept Psychiat, Sakyo Ku, 54 Shogoin Kawaharacho, Kyoto 6068507, Japan. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 237 EP 243 DI 10.1016/j.rasd.2013.12.005 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500010 ER PT J AU Kloosterman, PH Kelley, EA Parker, JDA Craig, WM AF Kloosterman, Patricia H. Kelley, Elizabeth A. Parker, James D. A. Craig, Wendy M. TI Executive functioning as a predictor of peer victimization in adolescents with and without an Autism Spectrum Disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Adolescence; Bullying; Victimization; Executive function; Pragmatic language ID PRAGMATIC LANGUAGE; LEARNING-DISABILITIES; ASPERGER-SYNDROME; CHILDREN; SCHOOL; EXPERIENCES; SKILLS; PERFORMANCE; ADJUSTMENT; DEPRESSION AB The present study examined pragmatic language and executive functions (EF) as predictors of peer victimization in three groups: high-functioning adolescent boys with an Autism Spectrum Disorder (ASD) (n = 30); typically developing adolescent boys (n = 40); and adolescent boys (n = 22) without ASD with special education needs (SN). Controlling for age and bullying others, regression analyses revealed EF as measured by the Behavior Rating Inventory of Executive Functioning (Gioia et al., 2000) to be a significant predictor across all types of peer victimization (physical, social, and verbal) regardless of group membership. It is concluded that EF may play a pivotal role in explaining why some SN adolescents with and without ASD are at-risk for peer victimization. (C) 2014 Elsevier Ltd. All rights reserved. C1 [Kloosterman, Patricia H.; Parker, James D. A.] Trent Univ, Dept Psychol, Peterborough, ON K9J 7B8, Canada. [Kloosterman, Patricia H.; Kelley, Elizabeth A.; Craig, Wendy M.] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada. RP Kelley, EA (reprint author), Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada. 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PD MAR PY 2014 VL 8 IS 3 BP 244 EP 254 DI 10.1016/j.rasd.2013.12.006 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500011 ER PT J AU Canitano, R Scandurra, V AF Canitano, Roberto Scandurra, Valeria TI Glutamatergic agents in Autism Spectrum Disorders: Current trends SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Glutamate; Autism Spectrum Disorders; Novel treatments; Childhood and adolescence ID PERVASIVE DEVELOPMENTAL DISORDERS; FRAGILE-X-SYNDROME; PLACEBO-CONTROLLED TRIAL; FAMILY-BASED ASSOCIATION; LONG-TERM POTENTIATION; BTBR MOUSE MODEL; DOUBLE-BLIND; GLUTAMATE-RECEPTOR-6 GENE; STEREOTYPIC BEHAVIORS; RECEPTOR EXPRESSION AB Glutamate transmission dysfunction has been found in various preclinical models of Autism Spectrum Disorders (ASD), thus the glutamate system is a target for therapeutics. This report reviews current treatments for glutamate dysfunction in ASD models and clinical trials. Antagonists of metabotropic glutamate receptor subtype 5 (mGluR5) have been tested in preclinical models of autism. Black and Tan Bachyuric (BTBR) mice model behavioral phenotypes of the three core diagnostic domains of autism, e.g. social deficits, impaired language and communication, and repetitive behaviors. A significant reduction in repetitive self-grooming was observed after mGluR5 antagonist administration in BTBR mice. SHANK 3 deficient mice which have altered synaptic transmission and plasticity, were administered IGF-1 treatment to reverse these deficits based on the hypothesis that reduced AMPA receptor levels reflect less mature synapses. Clinical trials have been carried out in ASD with glutamate NMDA receptors, but current findings are not sufficient for conclusions on safety and efficacy. Memantine is an NMDA antagonist under investigation in controlled trials that hopefully will provide new insight on its use in autism. Studies using novel treatments with other glutamatergic agents are also underway and encouraging results have been observed with N-acetylcysteine in treating irritability in ASD. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Canitano, Roberto; Scandurra, Valeria] Univ Hosp Siena, Div Child Neuropsychiat, I-53100 Siena, Italy. RP Canitano, R (reprint author), Univ Hosp Siena, Div Child Neuropsychiat, Viale Bracci 1, I-53100 Siena, Italy. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 255 EP 265 DI 10.1016/j.rasd.2013.12.009 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500012 ER PT J AU Ryland, HK Hysing, M Posserud, MB Gillberg, C Lundervold, AJ AF Ryland, Hilde K. Hysing, Mari Posserud, Maj-Britt Gillberg, Christopher Lundervold, Astri J. TI Autistic features in school age children: IQ and gender effects in a population-based cohort SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autistic features; IQ; ASSQ; Children; Gender ID SPECTRUM SCREENING QUESTIONNAIRE; INTELLECTUAL DISABILITY; ASPERGER SYNDROME; CORE SYMPTOMS; DOWN-SYNDROME; DISORDERS; PREVALENCE; ASSQ; VALIDATION; PSYCHOPATHOLOGY AB Level and characteristics of intellectual function (IQ) have been associated with symptom presentation in children with autism spectrum disorder. The present study examined associations between IQ and autistic features in a sample of school aged boys and girls selected from a population-based cohort. The study included detailed examinations of 325 children aged 8-12 years, selected from the sample of the Bergen Child Study. IQ was assessed using the third version of the Wechsler Intelligence Scale for Children (WISC-III) and autistic features by parent reports on the Autism Spectrum Screening Questionnaire (ASSQ). Boys obtained higher ASSQ scores than girls. Gender and FSIQ had main effects on ASSQ scores, with the ASSQ scores showing a gradual decline with higher FSIQ for both genders. Discrepancies between verbal and performance IQ were relatively unrelated to ASSQscores. The findings emphasize the importance of conducting careful assessments of children before reaching conclusions about cognitive function and autistic features. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved. C1 [Ryland, Hilde K.; Lundervold, Astri J.] Univ Bergen, Dept Biol & Med Psychol, N-5020 Bergen, Norway. [Ryland, Hilde K.; Hysing, Mari; Posserud, Maj-Britt; Lundervold, Astri J.] Uni Res, Uni Hlth, Reg Ctr Child & Youth Mental Hlth & Child Welf, N-5020 Bergen, Norway. [Posserud, Maj-Britt] Haukeland Hosp, Dept Child & Adolescent Psychiat, N-5021 Bergen, Norway. [Lundervold, Astri J.] Univ Bergen, KG Jebsen Ctr Res Neuropsychiat Disorders, N-5009 Bergen, Norway. [Gillberg, Christopher] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, SE-41119 Gothenburg, Sweden. RP Ryland, HK (reprint author), Univ Bergen, Dept Biol & Med Psychol, Postbox 7807, N-5020 Bergen, Norway. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 266 EP 274 DI 10.1016/j.rasd.2013.12.001 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500013 ER PT J AU Persicke, A Bishop, MR Coffman, CM Najdowski, AC Tarbox, J Chi, K Dixon, DR Granpeesheh, D Adams, AN Jang, J Ranick, J St Clair, M Kenzer, AL Sharaf, SS Deering, A AF Persicke, Angela Bishop, Michele R. Coffman, Christine M. Najdowski, Adel C. Tarbox, Jonathan Chi, Kellee Dixon, Dennis R. Granpeesheh, Doreen Adams, Amanda N. Jang, Jina Ranick, Jennifer St Clair, Megan Kenzer, Amy L. Sharaf, Sara S. Deering, Amanda TI Evaluation of the concurrent validity of a skills assessment for autism treatment SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Skills assessment; Curriculum; Validity ID INTERVENTIONS AB Accurate assessment is a critical prerequisite to meaningful curriculum programming for skill acquisition with children with autism spectrum disorder. The purpose of this study was to determine the validity of an indirect skills assessment. Concurrent validity of the assessment was evaluated by contrasting parent responses to participants' abilities, as indicated by direct observation of those skills. The degree to which parent report and direct observation were in agreement was measured by Pearson correlation coefficient for each curriculum area. Results indicated moderate to very high levels of agreement between parent report and direct observation of the behaviors. Results are discussed in terms of implications for efficiency of assessment and treatment. 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Bolte, Sven TI Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorder; Family videos; General movement assessment; Infant; Rett syndrome; Spontaneous movements ID MINOR NEUROLOGICAL DYSFUNCTION; FAMILY HOME MOVIES; EARLY IDENTIFICATION; NERVOUS-SYSTEM; YOUNG-CHILDREN; EARLY MARKER; SCHOOL-AGE; MOTOR; QUALITY; TODDLERS AB We review literature identifying an association between motor abnormality in the first 5 months of infancy and later diagnosis of autism spectrum disorder (ASD) or Rett syndrome (RU). The assessment of the quality of early spontaneous movements (also known as the assessment of general movements; GMs) is a diagnostic tool that has repeatedly proven to be valuable in detecting early markers for neurodevelopmental disorders. Even though the rate of occurrence of abnormal GMs is exceedingly high in infants later diagnosed with ASD, we endorse further studies using this method either based on family videos or its prospective implementation in high-risk sibling studies to evaluate the power of GM assessment as one potential marker for early maldevelopment in this cohort. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Einspieler, Christa; Bartl-Pokorny, Katrin D.; Marschik, Peter B.] Med Univ Graz, Inst Physiol, Ctr Physiol Med, Res Unit iDN Interdisciplinary Dev Neurosci, A-8010 Graz, Austria. [Sigafoos, Jeff] Victoria Univ Wellington, Sch Educ Psychol, Wellington, New Zealand. [Landa, Rebecca] Ctr Autism & Related Disorders, Kennedy Krieger Inst, Baltimore, MD USA. [Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders KIND, Dept Womens & Childrens Hlth, Stockholm, Sweden. RP Marschik, PB (reprint author), Med Univ Graz, Inst Physiol, Harrachgasse 21-5, A-8010 Graz, Austria. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 286 EP 291 DI 10.1016/j.rasd.2013.12.013 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500016 ER PT J AU Delahaye, J Kovacs, E Sikora, D Hall, TA Orlich, F Clemons, TE van der Weerd, E Glick, L Kuhlthau, K AF Delahaye, Jennifer Kovacs, Erica Sikora, Darryn Hall, Trevor A. Orlich, Felice Clemons, Traci E. van der Weerd, Emma Glick, Laura Kuhlthau, Karen TI The relationship between Health-Related Quality of Life and sleep problems in children with Autism Spectrum Disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism Spectrum Disorders; Health-Related Quality of Life; Sleep problems; Pediatrics; PedsQL; Children's Sleep Habits Questionnaire ID INTELLECTUAL DISABILITY; PSYCHOMETRIC PROPERTIES; HABITS QUESTIONNAIRE; ADOLESCENTS; POPULATION; SYMPTOMS; PEDSQL(TM)-4.0; DISTURBANCES; ASSOCIATIONS; RECOGNITION AB Although children with Autism Spectrum Disorders (ASD) are thought to experience sleep problems at a much higher rate than typically developing peers, the relationship between sleep disturbance and Health-Related Quality of Life (HRQoL) has not been explored within this pediatric population. Further, little is understood about the HRQoL of children with ASD in general. This study assessed the HRQoL and sleep health of a sample of children with ASD and investigated the relationship between HRQoL and overall sleep problems within the context of key clinical characteristics. Study participants included 86 parents of children with ASD between the ages of 4 and 12 years. Subjects were recruited from 3 autism specialty clinics at large academic medical centers and asked to proxy-report on their children's HRQoL and sleep habits. Adjusted regression models showed a consistent negative relationship between sleep disturbance and HRQoL, with greater overall sleep problems being associated with poorer total, physical, and psychosocial HRQoL. Sleep duration and sleep anxiety were also found to be negatively associated with HRQoL. These findings suggest that treatments that are effective in treating sleep disturbances may improve children's HRQoL. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Delahaye, Jennifer; van der Weerd, Emma; Kuhlthau, Karen] Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Res & Policy, Boston, MA 02114 USA. [Kovacs, Erica] Columbia Med Ctr, New York, NY 10019 USA. [Sikora, Darryn; Hall, Trevor A.] Oregon Hlth & Sci Univ, Child Dev & Rehabil Ctr, Portland, OR 97207 USA. [Orlich, Felice] Univ Washington, Seattle Childrens Hosp, CAC Autism Ctr 4909, Seattle, WA 98105 USA. [Clemons, Traci E.] EMMES Corp, Rockville, MD 20850 USA. [Glick, Laura] Tufts Univ, Somerville, MA 02144 USA. RP Delahaye, J (reprint author), MGH CAHRP, 15th Floor C100,100 Cambridge St, Boston, MA 02114 USA. EM jdelahaye@partners.org CR Achenbach TM, 2001, MANUAL ASEBA PRESCHO Adams J. 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PD MAR PY 2014 VL 8 IS 3 BP 292 EP 303 DI 10.1016/j.rasd.2013.12.015 PG 12 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500017 ER PT J AU Baeza-Velasco, C Michelon, C Rattaz, C Baghdadli, A AF Baeza-Velasco, Carolina Michelon, Cecile Rattaz, Cecile Baghdadli, Amaria TI Are Aberrant Behavioral patterns associated with the adaptive behavior trajectories of teenagers with Autism Spectrum Disorders? SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Aberrant behaviors; Autism; Adolescence; Adaptive behavior trajectories ID SEVERE INTELLECTUAL DISABILITIES; PERVASIVE DEVELOPMENTAL DISORDERS; CHALLENGING BEHAVIORS; SOCIAL-SKILLS; TOTAL POPULATION; YOUNG-PEOPLE; CHILDREN; CHECKLIST; PREVALENCE; ADULTS AB This study aims to identify Aberrant Behavioral (AB) patterns in adolescents with Autism Spectrum Disorders (ASD) and to examine if these patterns are associated to their adaptive behavior trajectories. The Aberrant Behavior Checklist (ABC) was used to assess problems behaviors in a sample of 152 adolescents with ASD, whose adaptive behavior trajectories were described based on the Vineland communication and socialization scores. Clustering analyses were performed to identify AB patterns and univariate analyses to evaluate the association between AB patterns and adaptive behavior trajectories. We identified four clusters or AB patterns: (1) low scores in the ABC four domains, (2) high scores in irritability and hyperactivity, (3) medium scores in the four domains, and (4) medium level of irritability and high scores in stereotypy, lethargy and hyperactivity. These patterns were significantly linked to the adolescents' adaptive behavior trajectories. Most adolescents with a high trajectory (87%) were found in clusters 1 and 3, whereas adolescents with a low trajectory were equally distributed in the four clusters. Results suggest that while a high trajectory seems associated with a low level of AB, low trajectory is not necessarily associated with a high level of AB. Study limitations and clinical implications are discussed. (C) 2013 Elsevier Ltd. All rights reserved. C1 CHRU Montpellier, Autism Resources Ctr, Montpellier, France. Univ Montpellier, Lab Epsylon, EA 4556, Montpellier, France. RP Baghdadli, A (reprint author), Autism Resources Ctr, 39 Ave Charles Flahault, F-34295 Montpellier 05, France. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 304 EP 311 DI 10.1016/j.rasd.2013.12.004 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500018 ER PT J AU Easson, A Woodbury-Smith, M AF Easson, Amanda Woodbury-Smith, Marc TI The role of prenatal immune activation in the pathogenesis of autism and schizophrenia: A literature review SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism; Schizophrenia; Prenatal; Immune activation; Neurodevelopment ID PREFRONTAL CORTEX; WORKING-MEMORY; FETAL-BRAIN; NEURODEVELOPMENTAL DISORDERS; HIPPOCAMPUS; CHALLENGE; MICE; INFECTION; PREGNANCY; DAMAGE AB Autism spectrum disorder (ASD) and schizophrenia (SZ) are two neurodevelopmental disorders that, despite having distinct diagnostic criteria, share certain clinical and etiological features. The genetic origin of the two disorders is beyond doubt, with evidence for unique and overlapping genetic risk factors. However, lower estimates of heritability have recently been reported for both disorders, lending support to a significant contribution from non-genetic factors. Notably, there is increasing evidence that immune activation during prenatal life may act as a risk factor for ASD and SZ. In this review, evidence supporting the hypothesis that prenatal immune activation (PIA) influences the onset and progression of ASD and SZ is analyzed. Results show that the detrimental effects of PIA on neurodevelopment include morphological changes in various brain regions, with perhaps the most notable being the hippocampus and prefrontal cortex, as well as altered activity of neurotransmitter systems such as the serotonergic system and impairments in working memory and prepulse inhibition. An examination of the risk factor of MA offers new insight into the pathophysiology of ASD and SZ, and in this way opens up new possibilities for the treatment of these two disorders. (C) 2014 Elsevier Ltd. All rights reserved. C1 [Easson, Amanda] McMaster Univ, Fac Hlth Sci, Hamilton, ON L8S 4L8, Canada. [Woodbury-Smith, Marc] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON L8S 4L8, Canada. RP Woodbury-Smith, M (reprint author), McMaster Childrens Hosp, Chedoke Site,EVEL Bldg,Room 457, Hamilton, ON L8N 3Z5, Canada. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 312 EP 316 DI 10.1016/j.rasd.2013.12.007 PG 5 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500019 ER PT J AU Strzelecka, J AF Strzelecka, Jolanta TI Electroencephalographic studies in children with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Autism; EEG; Gamma rhythm; Mu waves; Phenotype; Epilepsy ID PERVASIVE DEVELOPMENTAL DISORDERS; INTELLECTUAL DISABILITY; MENTAL-RETARDATION; GAMMA RHYTHMS; EEG; EPILEPSY; ABNORMALITIES; SLEEP; ENDOPHENOTYPES; CONNECTIVITY AB An important factor in the diagnosis and treatment of Autism spectrum disorder (ASD) is prescribed Electroencephalography (EEG). EEG changes may show the following: slowing, asymmetry, sharp waves or spikes, sharp and slow waves, generalized sharp and slow waves, or generalized polyspikes in a distributed or general area, multifocal or focal, unilateral or bilateral, and they may be located in many different areas of the brain. There is a need to look for a EEG phenotype typical of patients with ASD. The importance of gamma waves, rhythm mu, mirror neurons, and their role in patients with ASD was discussed. Epilepsy is reported to occur in one third of ASD patients. In ASD, seizures and EEG paroxysmal abnormalities could represent an epiphenomenon of a cerebral dysfunction independent of apparent lesions. This article reviews ASD and EEG abnormalities and discusses the interaction between epileptiform abnormalities and cognitive dysfunction. (C) 2013 Elsevier Ltd. All rights reserved. C1 Children Hosp, Dept Pediat Neurol, Warsaw, Poland. 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Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 317 EP 323 DI 10.1016/j.rasd.2013.11.010 PG 7 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500020 ER PT J AU Blacher, J Howell, E Lauderdale-Littin, S Reed, FDD Laugesond, EA AF Blacher, Jan Howell, Erica Lauderdale-Littin, Stacy Reed, Florence D. DiGennaro Laugesond, Elizabeth A. TI Autism spectrum disorder and the student teacher relationship: A comparison study with peers with intellectual disability and typical development SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Student-teacher relationships; Teacher conflict and closeness ID HIGH-FUNCTIONING AUTISM; CHILD RELATIONSHIPS; SOCIAL-SKILLS; SYNDROME SPECIFICITY; MENTAL-RETARDATION; BEHAVIOR PROBLEMS; PARENTING STRESS; YOUNG-CHILDREN; SCHOOL; PRESCHOOL AB This study examined relations among behavior problems, social skills, and student-teacher relationships within a sample of children (mean age 8) with autism spectrum disorders or ASD (n = 36) and comparison samples of children with typical development (n = 91) or with intellectual disability (n = 38.) Student-teacher relationships (STRs) for children with ASD appeared to be qualitatively different from those of similarly aged children with ID or typical development. The STRs for children with ASD were considerably poorer, with less closeness and more conflict, than in the two comparison groups. Within the group with ASD, teacher-reported child externalizing behavior and social skills accounted for significant variance in the total score on the Student Teacher Relationship Scale. Conflict was predicted only by externalizing behavior, whereas closeness was predicted by social skills; level of autistic mannerisms negatively related to the teacher's perception of closeness. Findings address the implications for transition to early schooling for children with ASD. (C) 2014 Published by Elsevier Ltd. C1 [Blacher, Jan; Howell, Erica; Lauderdale-Littin, Stacy] Univ Calif Riverside, Grad Sch Educ, Riverside, CA 92521 USA. [Reed, Florence D. DiGennaro] Melmark New England, Andover, MA USA. [Laugesond, Elizabeth A.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Sherman Oaks, CA USA. 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PD MAR PY 2014 VL 8 IS 3 BP 324 EP 333 DI 10.1016/j.rasd.2013.12.008 PG 10 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500021 ER PT J AU Mason, R Kamps, D Turcotte, A Cox, S Feldmiller, S Miller, T AF Mason, Rose Kamps, Debra Turcotte, Amy Cox, Suzanne Feldmiller, Sarah Miller, Todd TI Peer mediation to increase communication and interaction at recess for students with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism spectrum disorders; Elementary school; Recess; Social skills; Communication; Peer mediation ID SOCIAL-SKILLS INTERVENTIONS; INCLUSIVE SCHOOL SETTINGS; YOUNG-CHILDREN; INITIATIONS; SOCIALIZATION; DISABILITIES; BEHAVIORS; TIME AB Recess plays an integral role in the social and emotional development of children given the time provided to engage in interactions with others and practice important social skills. Students with ASD, however, typically fail to achieve even minimal benefit from recess due to social and communication impairments as well as a tendency to withdraw. Implementation of evidence-based interventions such as peer-mediated social skills groups, are necessary to ensure recess is an advantageous learning environment for students with ASD. A multiple-baseline design across participants was used to determine if a functional relationship exists between a social skills instructional program combined with peer networks with school staff as implementers and increases in level of communicative acts for participants with ASD at recess. Results indicate all participants demonstrated an immediate increase in the number of communicative acts with the introduction of the intervention. Implications for practice are discussed. Published by Elsevier Ltd. 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PD MAR PY 2014 VL 8 IS 3 BP 334 EP 344 DI 10.1016/j.rasd.2013.12.014 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500022 ER PT J AU Chung, KM Park, S AF Chung, Kyong-Mee Park, Suna TI Validity and reliability of the Korean Version of Autism Spectrum Disorders-Diagnostic for Children (ASD-DC) (vol 7, pg 1518, 2013) SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Correction C1 [Chung, Kyong-Mee] Yonsei Univ, Fac Clin Psychol, Dept Psychol, Seoul 120749, South Korea. [Park, Suna] Yonsei Univ, Dept Psychol, Seoul 120749, South Korea. RP Park, S (reprint author), Yonsei Univ, Dept Psychol, 210 Ho, Seoul 120749, South Korea. EM suna_joy@naver.com CR Chung KM, 2013, RES AUTISM SPECT DIS, V7, P1518, DOI 10.1016/j.rasd.2013.09.007 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 EI 1878-0237 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD MAR PY 2014 VL 8 IS 3 BP 345 EP 345 DI 10.1016/j.rasd.2013.10.012 PG 1 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AB0TR UT WOS:000331505500023 ER PT J AU Mechling, LC Ayres, KM Purrazzella, K Purrazzella, K AF Mechling, Linda C. Ayres, Kevin M. Purrazzella, Kaitlin Purrazzella, Kimberly TI Continuous Video Modeling to Prompt Completion of Multi-Component Tasks by Adults with Moderate Intellectual Disability SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID OF-THE-LITERATURE; AUTISM; SKILLS; INSTRUCTION; STUDENTS; CHILDREN AB This investigation examined the ability of four adults with moderate intellectual disability to complete multi-component tasks using continuous video modeling. Continuous video modeling, which is a newly researched application of video modeling, presents video in a "looping" format which automatically repeats playing of the video while the individual completes a task. Four adult males, ages 29 to 35 years, with a diagnosis of Down syndrome and moderate intellectual disability, were participants in the study. A multiple probe design across three sets of multi-component tasks (folding multiple sizes of towels; sorting an assortment of recycling materials; preparing a buffet table with multiple serving stations) was used to evaluate the effectiveness of continuous video modeling. Overall results suggest that this newly explored method for presenting video models was an effective presentation mode for three of the four participants and for one participant when completing two of three tasks. C1 [Mechling, Linda C.; Purrazzella, Kaitlin; Purrazzella, Kimberly] Univ N Carolina, Wilmington, NC 28403 USA. [Ayres, Kevin M.] Univ Georgia, Athens, GA 30602 USA. RP Mechling, LC (reprint author), Univ N Carolina, Dept Early Childhood & Special Educ, 601 S Coll Rd, Wilmington, NC 28403 USA. EM mechlingl@uncw.edu CR Allen K. D., 2010, EDUC TREAT CHILD, V33, P339, DOI DOI 10.1353/ETC.0.0101 Ayres K. M., 2010, SINGLE SUBJECT RES M, P329 Ayres KM, 2005, EDUC TRAIN DEV DISAB, V40, P183 Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401 Gast D. L., 2010, SINGLE SUBJECT RES M Hammond DL, 2010, EDUC TRAIN AUTISM DE, V45, P525 Hermansen E, 2007, ED TREATMENT CHILDRE, V30, P183, DOI DOI 10.1353/ETC.2007.0029 Kinney EM, 2003, J POSIT BEHAV INTERV, V5, P22, DOI 10.1177/10983007030050010301 Mechling L, 2012, J DEV PHYS DISABIL, V24, P469, DOI 10.1007/s10882-012-9284-2 Mechling L., 2005, Journal of Special Education Technology, V20 Murzynski NT, 2007, BEHAV INTERVENT, V22, P147, DOI 10.1002/bin.224 Reeve S. A., 2010, EDUC TREAT CHILD, V33, P351, DOI DOI 10.1353/ETC.0.0103 Sancho K., 2010, EDUC TREAT CHILD, V33, P421, DOI DOI 10.1353/ETC.0.0097 Shipley-Benamou R, 2002, J POSIT BEHAV INTERV, V4, P165 Shukla-Mehta S, 2010, FOCUS AUTISM DEV DIS, V25, P23, DOI 10.1177/1088357609352901 Sparrow S, 1984, VINELAND ADAPTIVE BE Taber-Doughty Teresa, 2008, Journal of Special Education Technology, V23 Thorndike RL, 1986, STANFORD BINET INTEL Van Laarhoven T, 2007, ASSIST TECHNOL, V4, P28 Wechsler D, 1997, WECHSLER ADULT INTEL, V3rd NR 20 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 MAR PY 2014 VL 49 IS 1 BP 3 EP 16 PG 14 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB0RG UT WOS:000331499200001 ER PT J AU Akmanoglu, N Yanardag, M Batu, ES AF Akmanoglu, Nurgul Yanardag, Mehmet Batu, E. Sema TI Comparing Video Modeling and Graduated Guidance together and Video Modeling alone for Teaching Role Playing Skills to Children with Autism SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID CONSTANT-TIME DELAY; SPECTRUM DISORDERS; YOUNG-CHILDREN; PRETEND PLAY; INTERVENTIONS; BEHAVIORS; SEQUENCES AB Teaching play skills is important for children with autism. The purpose of the present study was to compare effectiveness and efficiency of providing video modeling and graduated guidance together and video modeling alone for teaching role playing skills to children with autism. The study was conducted with four students. The study was conducted by using adapted alternative treatments design. Four kinds of data were collected during the study: effectiveness, efficiency, social validity, and reliability. Both teaching methods were found to be effective in teaching target skills to children with autism. Results of the study were compared with the literature and some recommendations were addressed in the study. C1 [Akmanoglu, Nurgul; Yanardag, Mehmet; Batu, E. Sema] Anadolu Univ, TR-26470 Eskisehir, Turkey. RP Akmanoglu, N (reprint author), Anadolu Univ, Res Inst Handicapped, TR-26470 Eskisehir, Turkey. EM nakmanoglu@anadolu.edu.tr CR Akmanoglu N, 2011, AUTISM, V15, P205, DOI 10.1177/1362361309352180 ALCANTARA PR, 1994, EXCEPT CHILDREN, V61, P40 Apple AL, 2005, J POSIT BEHAV INTERV, V7, P33, DOI 10.1177/10983007050070010401 Bellini S, 2007, SCHOOL PSYCHOL REV, V36, P80 BILLINGSLEY F, 1980, BEHAV ASSESS, V2, P229 Boudreau E, 2010, J DEV PHYS DISABIL, V22, P415, DOI 10.1007/s10882-010-9201-5 Bryan LC, 2000, J AUTISM DEV DISORD, V30, P553, DOI 10.1023/A:1005687310346 Callahan K., 2008, J AUTISM DEV DISORD, V28, P678 Cicero FR, 2002, RES DEV DISABIL, V23, P319, DOI 10.1016/S0891-4222(02)00136-1 D'Ateno P, 2003, J POSIT BEHAV INTERV, V5, P5, DOI 10.1177/10983007030050010801 Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401 Denny M., 2001, ED TREATMENT CHILDRE, V23, P441 Ergenekon Y., 2010, VIDEOYLA MODEL OLMA Gene D., 2010, THESIS ANADOLU U ESK Hermansen E, 2007, ED TREATMENT CHILDRE, V30, P183, DOI DOI 10.1353/ETC.2007.0029 Hine JF, 2006, TOP EARLY CHILD SPEC, V26, P83, DOI 10.1177/02711214060260020301 Holmes E, 2005, J INTELLECT DEV DIS, V30, P156, DOI 10.1080/13668250500204034 Kroeger KA, 2007, J AUTISM DEV DISORD, V37, P808, DOI 10.1007/s10803-006-0207-x Kurt O, 2008, TOP EARLY CHILD SPEC, V28, P53, DOI 10.1177/0271121408316046 Luiselli K. L., 2008, EFFECTIVE PRACTICES Lydon H, 2011, RES AUTISM SPECT DIS, V5, P872, DOI 10.1016/j.rasd.2010.10.002 MacDonald R, 2005, BEHAV INTERVENT, V20, P225, DOI 10.1002/bin.197 MacDonald R, 2009, J APPL BEHAV ANAL, V42, P43, DOI 10.1901/jaba.2009.42-43 Maione L, 2006, J POSIT BEHAV INTERV, V8, P106, DOI 10.1177/10983007060080020201 Marcus A, 2009, J APPL BEHAV ANAL, V42, P335, DOI 10.1901/jaba.2009.42-335 Naber FBA, 2008, J AUTISM DEV DISORD, V38, P857, DOI 10.1007/s10803-007-0454-5 National Autism Center, 2009, NAT STAND REP Nikopoulos CK, 2007, J AUTISM DEV DISORD, V37, P678, DOI 10.1007/s10803-006-0195-x Nikopoulos CK, 2004, J APPL BEHAV ANAL, V37, P93, DOI 10.1901/jaba.2004.37-93 Odom S. L., 2003, FOCUS AUTISM OTHER D, V18, P166, DOI DOI 10.1177/10883576030180030401 Palechka G., 2010, EDUC TREAT CHILD, V33, P457, DOI DOI 10.1353/ETC.0.0100 Reagon K. A., 2006, EDUC TREAT CHILD, V29, P517 Reed P, 2007, EXCEPT CHILDREN, V73, P417 Sancho K., 2010, EDUC TREAT CHILD, V33, P421, DOI DOI 10.1353/ETC.0.0097 Simpson R. L., 2007, EXCEPTIONALITY, V15, P203, DOI DOI 10.1080/09362830701655717 Soluaga D, 2008, RES AUTISM SPECT DIS, V2, P753, DOI 10.1016/j.rasd.2008.03.005 Tawney W. J., 1984, SINGLE SUBJECT RES S Tekin-Iftar E., 2006, OZEL EGITIMDE YANLIS, V2nd Terpstra J. E., 2002, FOCUS AUTISM OTHER D, V17, P119, DOI 10.1177/10883576020170020701 Wolery M., 1988, EFFECTIVE TEACHING P Woods J., 2006, ED TREATMENT CHILDRE, V29, P437 NR 41 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 MAR PY 2014 VL 49 IS 1 BP 17 EP 31 PG 15 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB0RG UT WOS:000331499200002 ER PT J AU Ohtake, Y Takeuchi, A Watanabe, K AF Ohtake, Yoshihisa Takeuchi, Ai Watanabe, Kentaro TI Effects of Video Self-Modeling on Eliminating Public Undressing by Elementary-Aged Students with Developmental Disabilities During Urination SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID ASPERGER-SYNDROME; CHILDREN; AUTISM; INTERVENTION; ADOLESCENTS; SKILLS AB This study investigated the effectiveness of video self-modeling (VSM) for eliminating the public undressing of two elementary-aged students with developmental disabilities during urination. A multiple-probe design across participants revealed that the degree of exposed body parts decreased immediately after introduction of VSM. However, exposure of buttocks was not eliminated for one student until a component of hero modeling was added to the VSM. The mechanism of eliminating public undressing by use of VSM and video self and hero modeling is discussed within a framework of motivating operation. C1 [Ohtake, Yoshihisa] Okayama Univ, Okayama 7008530, Japan. [Takeuchi, Ai; Watanabe, Kentaro] Okayama Univ, Special Sch, Fac Educ, Okayama 7008530, Japan. RP Ohtake, Y (reprint author), Okayama Univ, Div Dev Studies & Support, Kita Ku, 3-1-1 Tsushima Naka, Okayama 7008530, Japan. EM ohtake@cc.okayama-u.ac.jp CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Angell ME, 2011, FOCUS AUTISM DEV DIS, V26, P206, DOI 10.1177/1088357611421169 BANDURA A, 1977, PSYCHOL REV, V84, P191, DOI 10.1037//0033-295X.84.2.191 Bellini S, 2007, SCHOOL PSYCHOL REV, V36, P80 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., 1999, J POSIT BEHAV INTERV, V1, P205, DOI 10.1177/109830079900100403 Buggey T, 2009, SEEING IS BELIEVING Carlson JI, 2008, J POSIT BEHAV INTERV, V10, P86, DOI 10.1177/1098300707312544 Carr E. 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E., 1997, FUNCTIONAL ASSESSMEN, V2nd Ohta M., 1992, NINCHI HATTATSU CHIR Sherer M, 2001, BEHAV MODIF, V25, P140, DOI 10.1177/0145445501251008 Trevarthen C., 1998, CHILDREN AUTISM Ward KM, 2001, MENT RETARD, V39, P11, DOI 10.1352/0047-6765(2001)039<0011:CSIASG>2.0.CO;2 Wert BY, 2003, J POSIT BEHAV INTERV, V5, P30, DOI 10.1177/10983007030050010501 Wikipedia, 2011, CHROM KEY NR 30 TC 0 Z9 0 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 MAR PY 2014 VL 49 IS 1 BP 32 EP 44 PG 13 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB0RG UT WOS:000331499200003 ER PT J AU Evmenova, AS Behrmann, MM AF Evmenova, Anya S. Behrmann, Michael M. TI Enabling Access and Enhancing Comprehension of Video Content for Postsecondary Students with Intellectual Disability SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID READING-COMPREHENSION; DEVELOPMENTAL-DISABILITIES; GENERAL CURRICULUM; TEACH STUDENTS; INSTRUCTION; AUTISM; SKILLS; EDUCATION; DISORDERS; ALIGNMENT AB There is a great need for new innovative tools to integrate individuals with intellectual disability into educational experiences. This multiple baseline study examined the effects of various adaptations for improving factual and inferential comprehension of non-fiction videos by six postsecondary students with intellectual disability. Video adaptations included alternative narration, two types of captions (highlighted text and picture/word-based), and interactive video searching for answers. According to the visual and statistical analyses, students performed significantly better with adapted and interactive video clips. There was no difference between the types of captions. Furthermore, social validity interviews revealed that all students enjoyed the adapted and interactive videos and found them beneficial. C1 [Evmenova, Anya S.; Behrmann, Michael M.] George Mason Univ, Fairfax, VA 22030 USA. RP Evmenova, AS (reprint author), George Mason Univ, 4400 Univ Dr,MS 1F2, Fairfax, VA 22030 USA. EM aevmenov@gmu.edu CR Agran M, 2006, RES PRACT PERS SEV D, V31, P230 Ayres KM, 2006, EDUC TRAIN DEV DISAB, V41, P253 Ayres K. M., 2002, J SPECIAL ED TECHNOL, V17, P15 BLOOM BENJAMIN S., 1956, TAXONOMY ED OBJECTIV Bottge BA, 2007, J SPEC EDUC, V41, P31, DOI 10.1177/00224669070410010301 Browder D, 2004, J SPEC EDUC, V37, P211, DOI 10.1177/00224669040370040101 Browder D. M., 2006, TEACHING READING MAT Browder DM, 2007, J SPEC EDUC, V41, P2, DOI 10.1177/00224669070410010101 Caroll S. 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L., 2002, ED TRAINING MENTAL R, V37, P223 Wehmeyer M. L., 2005, HDB SPECIAL ED TECHN, P309 Wolery M., 1994, J BEHAV ED, V4, P381, DOI DOI 10.1007/BF01539539 Xin J., 2001, INFORM TECHNOLOGY CH, V12, P87 Yalon-Chamovitz S, 2008, RES DEV DISABIL, V29, P273, DOI 10.1016/j.ridd.2007.05.004 NR 54 TC 0 Z9 0 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 MAR PY 2014 VL 49 IS 1 BP 45 EP 59 PG 15 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB0RG UT WOS:000331499200004 ER PT J AU Asaro-Saddler, K AF Asaro-Saddler, Kristie TI Self-Regulated Strategy Development: Effects on Writers with Autism Spectrum Disorders SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID SCHOOL-AGE-CHILDREN; ASPERGER-SYNDROME; EXECUTIVE DYSFUNCTION; PLANNING INSTRUCTION; STUDENTS; SKILLS; DISABILITIES; ADOLESCENTS; VALIDATION; TEACHERS AB This replication study examined the effects of a planning and self-regulation strategy on the story writing abilities of young children with autism spectrum disorders (ASD). Three second graders with ASD were taught a strategy for planning and writing a story using the self-regulated strategy development (SRSD) approach. After learning the strategy, students' stories included more story elements, were longer, and received higher scores on a holistic scale. In addition, increases in planning time were noted. Results support similar outcomes from Asaro-Saddler and Saddler (2010) and provide further evidence that the SRSD approach can improve the story writing abilities of young students with ASD. This study also extends the findings by demonstrating the special education teachers, rather than trained instructors, can effectively implement the strategy with fidelity. C1 [Asaro-Saddler, Kristie] SUNY Albany, Albany, NY 12222 USA. RP Asaro-Saddler, K (reprint author), SUNY Albany, Dept Educ & Counseling Psychol, Div Special Educ, ED 228, Albany, NY 12222 USA. 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J., 2009, FOCUS AUTISM OTHER D, V22, P3 Winter M., 2003, ASPERGER SYNDROME WH NR 45 TC 0 Z9 0 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 MAR PY 2014 VL 49 IS 1 BP 78 EP 91 PG 14 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB0RG UT WOS:000331499200006 ER PT J AU Mayton, MR Carter, SL Zhang, J Wheeler, JJ AF Mayton, Michael R. Carter, Stacy L. Zhang, Jie Wheeler, John J. TI Intrusiveness of Behavioral Treatments for Children with Autism and Developmental Disabilities: An Initial Investigation SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID CHALLENGING BEHAVIOR; SPECTRUM DISORDERS; YOUNG-CHILDREN; INTERVENTION; ADULTS AB The behaviors frequently displayed by students with autism can place them at risk for overly reactive behavior interventions with unwanted side effects. The current study examined the level of intrusiveness of behavioral treatments developed for 198 students with disabilities from 13 different states. Results demonstrated that students diagnosed with autism had proportionally more intrusive behavior interventions when compared to students in five other disability categories and indicated that many students with autism were unnecessarily subjected to highly intrusive behavior interventions. The implications of these findings are discussed, and recommendations for future research are provided. C1 [Mayton, Michael R.] W Virginia Univ, Morgantown, WV 26506 USA. [Carter, Stacy L.] Texas Tech Univ, Lubbock, TX 79409 USA. [Zhang, Jie] SUNY Coll Brockport, Brockport, NY USA. [Wheeler, John J.] E Tennessee State Univ, Johnson City, TN 37614 USA. RP Mayton, MR (reprint author), W Virginia Univ, Dept Special Educ, 508-C Allen Hall, Morgantown, WV 26506 USA. EM michael.mayton@mail.wvu.edu CR Carter S. 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PD MAR PY 2014 VL 49 IS 1 BP 92 EP 101 PG 10 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB0RG UT WOS:000331499200007 ER PT J AU Post, M Storey, K Haymes, L Campbell, C Loughrey, T AF Post, Michal Storey, Keith Haymes, Linda Campbell, Camille Loughrey, Tamara TI Stalking Behaviors by Individuals with Autism Spectrum Disorders in Employment Settings: Understanding Stalking Behavior and Developing Appropriate Supports SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES LA English DT Article ID ASPERGER-SYNDROME; ADOLESCENTS; STALKERS AB Stalking behavior in the workplace by individuals with Autism Spectrum Disorder (ASD) can be problematic and complicated for employers to address. Often employers have limited knowledge of the disorder and the unique social characteristics associated with ASD that place these individuals at risk for stalking. It is important that employers, employees with ASD, employment support providers, and employees without ASD understand the legal implications of stalking behavior as well as appropriate interventions. Interventions can include elements of positive behavior support such as a functional behavioral assessment along with an intervention plan. We discuss specific interventions that can be used in the work setting to improve social interaction and cover legal implications. Interventions include self-management tools, video feedback, participation in employee social skill groups, employer provided counseling benefit, and other possible support strategies. Becoming informed about legal protections in relation to stalking behavior can be addressed through understanding specific provisions of the American Disability Act and Section 504 of the Vocational Rehabilitation Act. C1 [Post, Michal; Storey, Keith; Haymes, Linda] Touro Univ, Vallejo, CA 94592 USA. 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PD MAR PY 2014 VL 49 IS 1 BP 102 EP 110 PG 9 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AB0RG UT WOS:000331499200008 ER PT J AU Pebrel-Richard, C Debost-Legrand, A Eymard-Pierre, E Greze, V Kemeny, S Gay-Bellile, M Gouas, L Tchirkov, A Vago, P Goumy, C Francannet, C AF Pebrel-Richard, Celine Debost-Legrand, Anne Eymard-Pierre, Eleonore Greze, Victoria Kemeny, Stephan Gay-Bellile, Mathilde Gouas, Laetitia Tchirkov, Andrei Vago, Philippe Goumy, Carole Francannet, Christine TI An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article DE 16p11.2 deletion syndrome; juvenile neuronal ceroid-lipofuscinosis; hemizygous CLN3 mutation ID NEURONAL CEROID-LIPOFUSCINOSES; BATTEN-DISEASE GENE; MICRODELETION SYNDROME; PATIENT; PHENOTYPE; PROTEIN; OBESITY; PCR AB With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum disorder, epilepsy, and obesity, but also apparently normal phenotype. We report on a 16-year-old patient with developmental delay, exhibiting retinis pigmentosa with progressive visual failure from the age of 9 years, ataxia, and peripheral neuropathy. Chromosomal microarray analysis identified a 1.7-Mb 16p11.2 deletion encompassing the 593-kb common deletion (similar to 29.5 to similar to 30.1 Mb; Hg18) and the 220-kb distal deletion (similar to 28.74 to similar to 28.95 Mb; Hg18) that partially included the CLN3 gene. As the patient's clinical findings were different from usual 16p11.2 microdeletion phenotypes and showed some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, OMIM 204200), we suspected and confirmed a mutation of the remaining CLN3 allele. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletion represents one explanation for the phenotypic variability observed in chromosomal deletion disorders. C1 [Pebrel-Richard, Celine; Eymard-Pierre, Eleonore; Kemeny, Stephan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andrei; Vago, Philippe; Goumy, Carole] Univ Clermont1, UFR Med, CHU Estaing, F-63003 Clermont Ferrand 1, France. [Pebrel-Richard, Celine; Eymard-Pierre, Eleonore; Kemeny, Stephan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andrei; Vago, Philippe; Goumy, Carole] Univ Clermont1, ERTICa, EA 4677, UFR Med, Clermont Ferrand, France. [Debost-Legrand, Anne; Greze, Victoria; Francannet, Christine] CHU Estaing, Clermont Ferrand, France. RP Pebrel-Richard, C (reprint author), Univ Clermont1, UFR Med, CHU Estaing, 1 Pl Lucie & Raymond Aubrac, F-63003 Clermont Ferrand 1, France. EM cpebrel@chu-clermontferrand.fr FU DGOS (Direction Generale de l'Offre de Soins) FX We thank the patient and his family for their kind cooperation and permission to publish this case. aCGH analysis was supported by grants from the DGOS (Direction Generale de l'Offre de Soins). 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PD MAR PY 2014 VL 49 IS 4 BP 244 EP 250 PG 7 WC Education, Special SC Education & Educational Research GA AA6JR UT WOS:000331205100008 ER PT J AU Karvat, G Kimchi, T AF Karvat, Golan Kimchi, Tali TI Acetylcholine Elevation Relieves Cognitive Rigidity and Social Deficiency in a Mouse Model of Autism SO NEUROPSYCHOPHARMACOLOGY LA English DT Article DE Autism; acetylcholine; dorsomedial striatum; mouse model; donepezil; BTBR ID SPECTRUM DISORDERS; CIRCUMSCRIBED INTERESTS; CAUDATE-NUCLEUS; INBRED STRAINS; YOUNG-CHILDREN; BASAL GANGLIA; DONEPEZIL; MICE; STRIATUM; TASK AB Autism spectrum disorders (ASD) are defined by behavioral deficits in social interaction and communication, repetitive stereotyped behaviors, and restricted interests/cognitive rigidity. Recent studies in humans and animal-models suggest that dysfunction of the cholinergic system may underlie autism-related behavioral symptoms. Here we tested the hypothesis that augmentation of acetylcholine (ACh) in the synaptic cleft by inhibiting acetylcholinesterase may ameliorate autistic phenotypes. We first administered the acetylcholinesterase inhibitor (AChEl) Donepezil systemically by intraperitoneal (i.p.) injections. Second, the drug was injected directly into the rodent homolog of the caudate nucleus, the dorsomedial striatum (DMS), of the inbred mouse strain BTBR T+tf/J (BTBR), a commonly-used model presenting all core autism-related phenotypes and expressing low brain ACh levels. We found that i.p. injection of AChEl to BTBR mice significantly relieved autism-relevant phenotypes, including decreasing cognitive rigidity, improving social preference, and enhancing social interaction, in a dose-dependent manner. Microinjection of the drug directly into the DMS, but not into the ventromedial striatum, led to significant amelioration of the cognitive-rigidity and social-deficiency phenotypes. Taken together, these findings provide evidence of the key role of the cholinergic system and the DMS in the etiology of ASD, and suggest that elevated cognitive flexibility may result in enhanced social attention. The potential therapeutic effect of AChEls in ASD patients is discussed. C1 [Karvat, Golan; Kimchi, Tali] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel. RP Kimchi, T (reprint author), Weizmann Inst Sci, Dept Neurobiol, 234 Herzel St, IL-76100 Rehovot, Israel. EM tali.kimchi@weizmann.ac.il FU Nella and Leon Benoziyo Center; Kekst Family Institute for Medical Genetics; Jonathan and Joan Birnbach foundation FX This work was supported by the Nella and Leon Benoziyo Center, Kekst Family Institute for Medical Genetics, an Jonathan and Joan Birnbach foundation (TK). The authors declare no conflict of interest. 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RP Stein, F (reprint author), Calif State Univ, Dept Occupat Therapy, Carson, CA USA. CR An SJL, 2014, OCCUP THER INT, V21, P33, DOI 10.1002/oti.1358 Gee BM, 2014, OCCUP THER INT, V21, P12, DOI 10.1002/oti.1359 Ilott I, 2012, OCCUP THER INT, V19, P1, DOI 10.1002/oti.1322 Iwanaga R, 2014, OCCUP THER INT, V21, P4, DOI 10.1002/oti.1357 Law M, 2005, CANADIAN OCCUPATIONA Piven E, 2014, OCCUP THER INT, V21, P42, DOI 10.1002/oti.1363 Plow M, 2014, OCCUP THER INT, V21, P21, DOI 10.1002/oti.1345 Stein F, 1994, OCCUPATIONAL THERAPY, V1, piii NR 8 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0966-7903 EI 1557-0703 J9 OCCUP THER INT JI Occup. Ther. Int. PD MAR PY 2014 VL 21 IS 1 SI SI BP 1 EP 3 DI 10.1002/oti.1366 PG 3 WC Rehabilitation SC Rehabilitation GA AA9YW UT WOS:000331450000001 ER PT J AU Iwanaga, R Honda, S Nakane, H Tanaka, K Toeda, H Tanaka, G AF Iwanaga, Ryoichiro Honda, Sumihisa Nakane, Hideyuki Tanaka, Koji Toeda, Haruka Tanaka, Goro TI Pilot Study: Efficacy of Sensory Integration Therapy for Japanese Children with High-Functioning Autism Spectrum Disorder SO OCCUPATIONAL THERAPY INTERNATIONAL LA English DT Article DE paediatric occupational therapy; sensory integrative therapy; autism spectrum disorder ID DEVELOPMENTAL COORDINATION DISORDER; OCCUPATIONAL-THERAPY; MODULATION DISORDER; INTERVENTIONS; PERFORMANCE; PARTICIPATION; PROGRAM AB This study's objective was to investigate the efficacy of sensory integration therapy (SIT) for children with high-functioning autism spectrum disorder (HFASD). The subjects were 20 HFASD children with IQs above 70 selected from previously collected data. Eight participated in individual SIT sessions, and 12 participated in group therapy (GT) including social skill training, communication training, kinetic activities, and child-parent play for 8-10 months. Changes in Total score and five Index scores on the Japanese version of the Miller Assessment for Preschoolers before and after therapy between children in the SIT and GT groups were compared. The results showed that Total score and all Index scores except for Verbal Index increased significantly in the SIT group, while only Total score increased in the GT group. Furthermore, the SIT group showed more improvement compared with the GT group in Total score and on Coordination, Non-verbal, and Complex Index scores. SIT might have a more positive effect on motor coordination abilities, non-verbal cognitive abilities, and combined abilities of sensory motor and cognition in children with HFASD when compared with GT. This study has limitations such as being an analysis of previously collected data. Further study should be conducted with a randomized control trial. Copyright (c) 2013 John Wiley & Sons, Ltd. C1 [Iwanaga, Ryoichiro; Honda, Sumihisa; Nakane, Hideyuki; Tanaka, Koji; Toeda, Haruka; Tanaka, Goro] Nagasaki Univ, Grad Sch Biomed Sci, Div Phys & Occupat Therapy, Dept Hlth Sci, Nagasaki 8528520, Japan. RP Iwanaga, R (reprint author), Nagasaki Univ, Grad Sch Biomed Sci, Div Phys & Occupat Therapy, Dept Hlth Sci, 1-7-1 Sakamoto, Nagasaki 8528520, Japan. EM iwanagar@nagasaki-u.ac.jp RI Cheung, Phoebe/M-9011-2014 OI Cheung, Phoebe/0000-0003-3190-9949 CR Allen S, 1995, BRIT J OCCUPATIONAL, V58, P385 American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th American Psychiatric Association, 2013, DIAGN STAT MAN MENT Ayres A. 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Ther. Int. PD MAR PY 2014 VL 21 IS 1 SI SI BP 4 EP 11 DI 10.1002/oti.1357 PG 8 WC Rehabilitation SC Rehabilitation GA AA9YW UT WOS:000331450000002 PM 23893373 ER PT J AU Gee, BM Thompson, K St John, H AF Gee, Bryan M. Thompson, Kelly St John, Holly TI Efficacy of a Sound-based Intervention with a Child with an Autism Spectrum Disorder and Auditory Sensory Over-responsivity SO OCCUPATIONAL THERAPY INTERNATIONAL LA English DT Article DE autism spectrum disorder; sound-based intervention; sensory over-responsivity ID OCCUPATIONAL-THERAPY; HYPERACUSIS; INTEGRATION; STIMULI AB Sound-based interventions (SBIs) are being used by paediatric occupational therapists to help children with autism spectrum disorders and co-morbid sensory processing disorders. A limited yet growing body of evidence is emerging related to the efficacy of SBIs in reducing sensory processing deficits among paediatric clients with co-morbid conditions. The current study employed an ABA single-subject case-controlled design, implementing The Listening Program((R)) with a 7-year-old child diagnosed with autism spectrum disorder who demonstrated auditory sensory over-responsivity (SOR). The intervention consisted of 10 weeks of psycho-acoustically modified classical music that was delivered using specialized headphones and amplifier and a standard CD player. Repeated measures were conducted during the A(1), B and A(2) phases of the study using the Sensory Processing Measure, a subjective caregiver questionnaire, and the Sensory Over-Responsivity Scales, an examiner-based assessment measure to track changes of the participant's auditory SOR-related behaviours. The results indicated that the participant exhibited a decrease in the number of negative (avoidant, verbal and physical negative) and self-stimulatory behaviours. The decreases in negative and self-stimulatory behaviour may have been due to the therapeutic effect of the repeated exposure to the Sensory Over-Responsivity Scales or The Listening Program SBI. Copyright (c) 2013 John Wiley & Sons, Ltd. C1 [Gee, Bryan M.; Thompson, Kelly] Idaho State Univ, Dept Phys & Occupat Therapy, Pocatello, ID 83209 USA. [St John, Holly] CAMP Hippo Pediat Therapy LLC, Idaho, ID USA. RP Gee, BM (reprint author), Idaho State Univ, Dept Phys & Occupat Therapy, Pocatello, ID 83209 USA. EM geebrya@isu.edu RI Cheung, Phoebe/M-9011-2014 OI Cheung, Phoebe/0000-0003-3190-9949 FU Department of Physical and Occupational Therapy of Idaho State University; Sensory Processing Disorder Foundation; Advanced Brain Technologies; Wal-Mart FX The authors would like to thank the Department of Physical and Occupational Therapy of Idaho State University, the Sensory Processing Disorder Foundation, Advanced Brain Technologies and Wal-Mart for providing additional funding, materials and supplies and the space to conduct the case study. 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Indeed, there has been considerable controversy and debate as to the utility of studying the resting-state in cognitive neuroscience. However, recent work has shown that RSFC, rather than merely reflecting passive or epiphenomenal activity within underlying functional-anatomic networks, reveals important dynamic processes that play an active role in cognition. RSFC has been associated with individual differences in a number of behavioral and cognitive domains, including perception, language, learning and memory, and the organization of conceptual knowledge. In this article, we review and integrate the latest research demonstrating that RSFC is functionally relevant to human behavior and higher-level cognition, and propose a hypothesis regarding its mechanism of action on functional network dynamics and cognition. We conclude that RSFC MRI will be an invaluable tool for future discovery of the fundamental neurocognitive interactions that underlie cognition. 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Performance by nonhuman animals on these tasks, including reversal learning, intradimensional set-shifting, and extradimensional set-shifting, are affected by pharmacological action on serotonergic, dopaminergic, and alpha-adrenergic, but not beta-adrenergic receptors. However, beta-adrenergic antagonists, such as propranolol, are widely utilized for conditions such as test anxiety. Propranolol improves performance in humans during cognitive flexibility tasks where there is a broad set of potential solutions. The current investigation utilized a digging task where the rodent must develop a novel solution in order to obtain a reward. Similar to the effects observed in humans, propranolol improved performance on this task, while not affecting performance on set-shifting tasks, as with previous animal studies. This may allow future investigation of the neurobiological mechanism by which propranolol affects context-specific anxiety, and could provide insight into the neurobiology of creativity. (C) 2013 Elsevier B.V. All rights reserved. C1 [Hecht, Patrick M.; Will, Matthew J.; Schachtman, Todd R.; Beversdorf, David Q.] Univ Missouri, Interdisciplinary Neuroscience Program, Columbia, MO 65211 USA. [Hecht, Patrick M.; Will, Matthew J.; Beversdorf, David Q.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorder, Columbia, MO 65211 USA. [Hecht, Patrick M.; Beversdorf, David Q.] Univ Missouri, Ctr Translat Neurosci, Columbia, MO 65211 USA. [Will, Matthew J.] Univ Missouri, Christopher Bond Life Sci Ctr, Columbia, MO 65211 USA. [Will, Matthew J.; Schachtman, Todd R.; Welby, Lauren M.; Beversdorf, David Q.] Univ Missouri, Dept Psychol Sci, Columbia, MO 65211 USA. [Beversdorf, David Q.] Univ Missouri, Dept Radiol, Columbia, MO 65211 USA. [Beversdorf, David Q.] Univ Missouri, Dept Neurol, Columbia, MO 65211 USA. RP Beversdorf, DQ (reprint author), Dept Radiol, DC069-10,One Hosp Dr, Columbia, MO 65212 USA. EM pmhp6d@mail.missouri.edu; willm@missouri.edu; schachtmant@missouri.edu; lmwy9b@mail.missouri.edu; beversdorfd@health.missouri.edu FU University of Missouri Mission Enhancement/Radiology Startup Funds FX We would like to thank Dr. Troy Zars, Bradley Ferguson, and Jill Hampton for their contributions to this study. This study was funded by the University of Missouri Mission Enhancement/Radiology Startup Funds. Dr. Beversdorf is funded as the William and Nancy Thompson Endowed Chair in Radiology. 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Thiss, Weston TI Competitive Employment for Youth with Autism Spectrum Disorders: Early Results from a Randomized Clinical Trial SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; ASD; Transition to employment; Applied behavior analysis; Positive behavior support; Project SEARCH ID INTENSITY SCALE SIS; YOUNG-ADULTS; TRANSITION; DISABILITIES; SCHOOL AB For most youth with autism spectrum disorders (ASD), employment upon graduation from high school or college is elusive. Employment rates are reported in many studies to be very low despite many years of intensive special education services. This paper presented the preliminary results of a randomized clinical trial of Project SEARCH plus ASD Supports on the employment outcomes for youth with ASD between the ages of 18-21 years of age. 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As those with psychosis show a jump-to-conclusions reasoning bias, those with ASD should show a circumspect reasoning bias. Jumping-to-conclusions was assessed in a sample of 20 adolescents with ASD and 23 age-matched controls using the jumping-to-conclusions beads task. Both groups demonstrated equivalent levels of confidence in decision-making, however the ASD group required more beads than controls before making their decision. Furthermore, there was a positive correlation between the beads required and degree of autism symptoms. Consistent with the Autism-Psychosis Model, a more circumspect reasoning bias was evident in ASD. C1 [Brosnan, Mark; Chapman, Emma; Ashwin, Chris] Univ Bath, Dept Psychol, Bath BA2 7AY, Avon, England. RP Brosnan, M (reprint author), Univ Bath, Dept Psychol, Bath BA2 7AY, Avon, England. 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PD MAR PY 2014 VL 44 IS 3 BP 513 EP 520 DI 10.1007/s10803-013-1897-5 PG 8 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100003 PM 24002414 ER PT J AU Dadds, MR MacDonald, E Cauchi, A Williams, K Levy, F Brennan, J AF Dadds, Mark R. MacDonald, Elayne Cauchi, Avril Williams, Katrina Levy, Florence Brennan, John TI Nasal Oxytocin for Social Deficits in Childhood Autism: A Randomized Controlled Trial SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Oxytocin; Children; Randomized controlled trial ID SPECTRUM DISORDERS; AFFILIATIVE BEHAVIOR; INTRANASAL OXYTOCIN; CHILDREN; HUMANS; BRAIN; INTERVENTIONS; VASOPRESSIN; COGNITION; PEPTIDE AB The last two decades have witnessed a surge in research investigating the application of oxytocin as a method of enhancing social behaviour in humans. Preliminary evidence suggests oxytocin may have potential as an intervention for autism. We evaluated a 5-day 'live-in' intervention using a double-blind randomized control trial. 38 male youths (7-16 years old) with autism spectrum disorders were administered 24 or 12 international units (depending on weight) intranasal placebo or oxytocin once daily over four consecutive days. The oxytocin or placebo was administered during parent-child interaction training sessions. Parent and child behaviours were assessed using parent reports, clinician ratings, and independent observations, at multiple time points to measure side-effects; social interaction skills; repetitive behaviours; emotion recognition and diagnostic status. Compared to placebo, intranasal oxytocin did not significantly improve emotion recognition, social interaction skills, or general behavioral adjustment in male youths with autism spectrum disorders. The results show that the benefits of nasal oxytocin for young individuals with autism spectrum disorders may be more circumscribed than suggested by previous studies, and suggest caution in recommending it as an intervention that is broadly effective. C1 [Dadds, Mark R.; MacDonald, Elayne; Cauchi, Avril] Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia. [Williams, Katrina] Univ Melbourne, Murdoch Childrens Res Inst, Melbourne, Vic, Australia. [Levy, Florence; Brennan, John] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia. RP Dadds, MR (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 532 EP 545 DI 10.1007/s10803-013-1900-1 PG 14 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100005 PM 23893101 ER PT J AU Venker, CE Ray-Subramanian, CE Bolt, DM Weismer, SE AF Venker, Courtney E. Ray-Subramanian, Corey E. Bolt, Daniel M. Weismer, Susan Ellis TI Trajectories of Autism Severity in Early Childhood SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism severity; Growth trajectories; Calibrated severity scores; Functional skill trajectories ID DIAGNOSTIC OBSERVATION SCHEDULE; STANDARDIZED ADOS SCORES; SPECTRUM DISORDERS; REPETITIVE BEHAVIORS; CHILDREN; LANGUAGE; PRESCHOOLERS; REGRESSION; TODDLERS; VALIDITY AB Relatively little is known about trajectories of autism severity using calibrated severity scores (CSS) from the Autism Diagnostic Observation Schedule, but characterizing these trajectories has important theoretical and clinical implications. This study examined CSS trajectories during early childhood. Participants were 129 children with autism spectrum disorder evaluated annually from ages 2A1/2 to 5A1/2. The four severity trajectory classes that emerged-Persistent High (n = 47), Persistent Moderate (n = 54), Worsening (n = 10), and Improving (n = 18)-were strikingly similar to those identified by Gotham et al. (Pediatrics 130(5):e1278-e1284, 2012). Children in the Persistent High trajectory class had the most severe functional skill deficits in baseline nonverbal cognition and daily living skills and in receptive and expressive language growth. C1 [Venker, Courtney E.; Weismer, Susan Ellis] Univ Wisconsin, Dept Commun Sci & Disorders, Madison, WI 53705 USA. [Venker, Courtney E.; Ray-Subramanian, Corey E.; Bolt, Daniel M.; Weismer, Susan Ellis] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA. [Bolt, Daniel M.] Univ Wisconsin, Dept Educ Psychol, Madison, WI 53706 USA. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 546 EP 563 DI 10.1007/s10803-013-1903-y PG 18 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100006 PM 23907710 ER PT J AU Treffert, DA AF Treffert, Darold A. TI Savant Syndrome: Realities, Myths and Misconceptions SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Savant syndrome; Autism; Autism spectrum disorder; Hyperlexia; Einstein syndrome ID FRONTOTEMPORAL DEMENTIA; ABILITY; DISORDERS; TALENT AB It was 126 years ago that Down first described savant syndrome as a specific condition and 70 years ago that Kanner first described Early Infantile Autism. While as many as one in ten autistic persons have savant abilities, such special skills occur in other CNS conditions as well such that approximately 50 % of cases of savant syndrome have autism as the underlying developmental disability and 50 % are associated with other disabilities. This paper sorts out realities from myths and misconceptions about both savant syndrome and autism spectrum disorders (ASD) that have developed through the years. The reality is that low IQ is not necessarily an accompaniment of savant syndrome; in some cases IQ can be superior. Also, savants can be creative, rather than just duplicative, and the skills increase over time on a continuum from duplication, to improvisation to creation, rather than diminishing or suddenly disappearing. Genius and prodigy exist separate from savant syndrome and not all such highly gifted persons have Asperger's Disorder. This paper also emphasizes the critical importance of separating 'autistic-like' symptoms from ASD especially in children when the savant ability presents as hyperlexia (children who read early) or as Einstein syndrome (children who speak late), or have impaired vision (Blindisms) because prognosis and outcome are very different when that careful distinction is made. 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TI Visual Attention to Competing Social and Object Images by Preschool Children with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Social attention; Eye-tracking; Face processing; Circumscribed interests; Restricted interests ID HIGH-FUNCTIONING AUTISM; YOUNG-CHILDREN; CIRCUMSCRIBED INTERESTS; REPETITIVE BEHAVIORS; TYPICAL DEVELOPMENT; RECOGNITION; AGE; LIFE; FACE; PATTERNS AB Eye tracking studies of young children with autism spectrum disorder (ASD) report a reduction in social attention and an increase in visual attention to non-social stimuli, including objects related to circumscribed interests (CI) (e.g., trains). In the current study, fifteen preschoolers with ASD and 15 typically developing controls matched on gender and age (range 24-62 months) were eye tracked while viewing a paired preference task of face and object stimuli. While co-varying verbal and nonverbal developmental quotients, preschoolers with ASD were similar to controls in their visual attention to faces presented with objects unrelated to CI, but attended significantly less than controls to faces presented with CI-related objects. This was consistent across three metrics: preference, prioritization and duration. Social attention in preschoolers with ASD therefore appears modulated by salience of competing non-social stimuli, which may affect the development of both social and non-social characteristics of the disorder. C1 [Sasson, Noah J.; Touchstone, Emily W.] Univ Texas Dallas, Sch Behav & Brain Sci GR41, Richardson, TX 75080 USA. RP Sasson, NJ (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci GR41, Richardson, TX 75080 USA. 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TI Coping, Daily Hassles and Behavior and Emotional Problems in Adolescents with High-Functioning Autism/Asperger's Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Coping; Daily hassles; Psychopathology; Autism; Asperger's Disorder ID AUTISM SPECTRUM DISORDERS; RANDOMIZED CONTROLLED-TRIAL; SOCIAL COMMUNICATION QUESTIONNAIRE; PERVASIVE DEVELOPMENTAL DISORDERS; ECOLOGICAL MOMENTARY ASSESSMENT; ASPERGERS-SYNDROME; DIFFICULTIES QUESTIONNAIRE; PSYCHOMETRIC PROPERTIES; MENTAL-HEALTH; CHILDREN AB Although daily hassles and coping are associated with behavior and emotional problems in non-clinical populations, few studies have investigated these relationships in individuals with high-functioning autism/Asperger's Disorder (HFASD). This study examined the relationships between daily hassles, coping and behavior and emotional problems in adolescents with HFASD. 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TI The Autism Mental Status Exam: Sensitivity and Specificity Using DSM-5 Criteria for Autism Spectrum Disorder in Verbally Fluent Adults SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism mental status exam; Mental status exam; Autism spectrum disorder; DSM-5; ADOS; Autism diagnostic assessment AB The phenotypic heterogeneity of adults suspected of autism spectrum disorder (ASD) requires a standardized diagnostic approach that is feasible in all clinical settings. The autism mental status exam (AMSE) is an eight-item observational assessment that structures the observation and documentation of social, communicative and behavioral signs and symptoms of ASD. Previous findings indicate high classification accuracy when compared to the autism diagnostic observation schedule in a non-stratified population of high-risk patients suspected of having ASD. This protocol investigates the sensitivity and specificity of AMSE scores using DSM-5 criteria for ASD in a sample of high-risk verbally fluent adults. Findings indicate an optimized sensitivity of 0.91 and a specificity of 0.93 for this group. Because of its high clinical utility, the AMSE holds promise as a diagnostic assessment tool that can support one's clinical diagnosis of ASD in high-risk adults. C1 [Grodberg, David; Halpern, Danielle; Kolevzon, Alexander] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, New York, NY USA. [Weinger, Paige M.] Univ Miami, Miller Sch Med, Mailman Ctr Child Dev, Dept Pediat, Miami, FL 33136 USA. [Parides, Michael] Icahn Sch Med Mt Sinai, Mt Sinai Ctr Biostat, Dept Hlth Evidence & Policy, New York, NY USA. [Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat Genet & Genom Sci, New York, NY USA. [Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Neurosci, New York, NY USA. RP Grodberg, D (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, One Gustave Levy Pl,Box 1230, New York, NY USA. EM david.grodberg@mssm.edu; Paige.weinger@gmail.com; Danielle.halpern@mssm.edu; Michael.parides@mssm.edu; Alexander.kolevzon@mssm.edu; Joseph.buxbaum@mssm.edu CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT Bastiaansen JA, 2011, J AUTISM DEV DISORD, V41, P1256, DOI 10.1007/s10803-010-1157-x Brugha TS, 2011, ARCH GEN PSYCHIAT, V68, P459, DOI 10.1001/archgenpsychiatry.2011.38 Constantino JN, 2005, SOCIAL RESPONSIVENES Grodberg D, 2012, J AUTISM DEV DISORD, V42, P455, DOI 10.1007/s10803-011-1255-4 Johnson SA, 2009, J AUTISM DEV DISORD, V39, P1706, DOI 10.1007/s10803-009-0809-1 Lord C., 1999, AUTISM DIAGNOSTIC OB Risi S, 2006, J AM ACAD CHILD PSY, V45, P1094, DOI 10.1097/01.chi.0000227880.42780.0e Ritvo RA, 2011, J AUTISM DEV DISORD, V41, P1076, DOI 10.1007/s10803-010-1133-5 Rutter M., 2003, AUTISM DIAGNOSTIC IN Rutter M., 2003, SOCIAL COMMUNICATION NR 11 TC 1 Z9 1 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 EI 1573-3432 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 609 EP 614 DI 10.1007/s10803-013-1917-5 PG 6 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100011 PM 23989909 ER PT J AU D'Elia, L Valeri, G Sonnino, F Fontana, I Mammone, A Vicari, S AF D'Elia, Lidia Valeri, Giovanni Sonnino, Fabiana Fontana, Ilaria Mammone, Alessia Vicari, Stefano TI A Longitudinal Study of the Teacch Program in Different Settings: The Potential Benefits of Low Intensity Intervention in Preschool Children with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; TEACCH; Preschool children; Treatment intensity ID YOUNG-CHILDREN; PARENTING STRESS AB We conducted a longitudinal study of 30 preschool children with autism spectrum disorders (ASDs) to evaluate the potential benefits of the Treatment and Education of Autistic and related Communication Handicapped Children (TEACCH). Fifteen children following a low intensity TEACCH program were assessed four times for autism severity, adaptive functioning, language skills, maladaptive behaviors and parental stress and compared with a control group of 15 children following a non-specific approach. Findings suggest that a low intensity home and school TEACCH program may provide benefits for children with ASD by reducing autistic symptoms and maladaptive behaviors. Furthermore, a decrease in parental stress indicates that parents' involvement in the rehabilitation program is a crucial factor and contributes greatly to treatment efficacy. C1 [D'Elia, Lidia; Valeri, Giovanni; Vicari, Stefano] Childrens Hosp Bambino Gesu, Dept Neurosci, I-00165 Rome, Italy. [Sonnino, Fabiana; Fontana, Ilaria] Autism Treatment Ctr Tutti Giu Terra ONLUS, I-00100 Rome, Italy. [Mammone, Alessia] Univ Roma Tor Vergata, CIBB Interdisciplinary Ctr Biostat & Bioinformat, I-00133 Rome, Italy. RP D'Elia, L (reprint author), Childrens Hosp Bambino Gesu, Dept Neurosci, Piazza St Onofrio 4, I-00165 Rome, Italy. EM lidia.delia@opbg.net CR Abidin R. 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PD MAR PY 2014 VL 44 IS 3 BP 615 EP 626 DI 10.1007/s10803-013-1911-y PG 12 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100012 PM 23949000 ER PT J AU Van Wijngaarden-Cremers, PJM van Eeten, E Groen, WB Van Deurzen, PA Oosterling, IJ Van der Gaag, RJ AF Van Wijngaarden-Cremers, Patricia J. M. van Eeten, Evelien Groen, Wouter B. Van Deurzen, Patricia A. Oosterling, Iris J. Van der Gaag, Rutger Jan TI Gender and Age Differences in the Core Triad of Impairments in Autism Spectrum Disorders: A Systematic Review and Meta-analysis SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Review DE Autism spectrum disorder; Gender; Age ID PERVASIVE DEVELOPMENTAL DISORDERS; SEX-DIFFERENCES; FUNCTIONING AUTISM; INFANTILE-AUTISM; ADULTS; CHILDREN; GIRLS; INSTRUMENT; DIAGNOSIS; DOMAINS AB Autism is an extensively studied disorder in which the gender disparity in prevalence has received much attention. In contrast, only a few studies examine gender differences in symptomatology. This systematic review and meta-analysis of 22 peer reviewed original publications examines gender differences in the core triad of impairments in autism. Gender differences were transformed and concatenated using standardized mean differences, and analyses were stratified in five age categories (toddlerhood, preschool children, childhood, adolescence, young adulthood). Boys showed more repetitive and stereotyped behavior as from the age of six, but not below the age of six. Males and females did not differ in the domain of social behavior and communication. There is an underrepresentation of females with ASD an average to high intelligence. Females could present another autistic phenotype than males. As ASD is now defined according to the male phenotype this could imply that there is an ascertainment bias. 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TI Factor Structure for Autism Spectrum Disorders with Toddlers Using DSM-IV and DSM-5 Criteria SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; DSM-5; BISCUIT; CFA ID PERVASIVE DEVELOPMENTAL DISORDERS; CONFIRMATORY FACTOR-ANALYSIS; DIAGNOSTIC INTERVIEW; JOINT ATTENTION; INFANT SCREEN; FIT INDEXES; SAMPLE-SIZE; CHILDREN; COMMUNICATION; PLAY AB With the publication of the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition, autism spectrum disorders are defined by two symptom clusters (social communication and restricted/repetitive behaviors) instead of the current three clusters. The current study examined the structure of the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT). First, an exploratory factor analysis was replicated whose results were largely comparable to the previous findings. Then, confirmatory factor analyses compared a two and three factor structure for the BISCUIT. 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Stevens, Michael Helt, Molly Rosenthal, Michael TI Language and Verbal Memory in Individuals with a History of Autism Spectrum Disorders Who Have Achieved Optimal Outcomes SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Optimal outcome; Language; Recovery; Autism ID INTENSIVE BEHAVIORAL TREATMENT; WORKING-MEMORY; NONWORD REPETITION; CHILDREN; IMPAIRMENT; COMMUNICATION; DIFFICULTIES; ACQUISITION; PERFORMANCE; PREDICTORS AB Some individuals who lose their autism spectrum disorder diagnosis may continue to display subtle weaknesses in language. We examined language and verbal memory in 44 individuals with high-functioning autism (HFA), 34 individuals with "optimal outcomes" (OO) and 34 individuals with typical development (TD). The OO group scored in the average range or above on all measures and showed few differences from the TD group. The HFA group performed within the average range but showed significantly lower mean performance than the other groups on multiple language measures, even when controlling for verbal IQ. Results also indicate that OO individuals show strong language abilities in all areas tested, but that their language may show greater reliance on verbal memory. C1 [Tyson, Katherine; Fein, Deborah; Orinstein, Alyssa; Troyb, Eva; Barton, Marianne; Eigsti, Inge-Marie; Naigles, Letitia; Helt, Molly] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA. [Kelley, Elizabeth] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada. [Fein, Deborah] Univ Connecticut, Dept Pediat, Farmington, CT USA. [Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA. [Stevens, Michael] Hartford Hosp, Inst Living, Hartford, CT 06115 USA. [Rosenthal, Michael] Child Mind Inst, New York, NY USA. RP Tyson, K (reprint author), Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 648 EP 663 DI 10.1007/s10803-013-1921-9 PG 16 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100015 PM 23982487 ER PT J AU Amso, D Haas, S Tenenbaum, E Markant, J Sheinkopf, S AF Amso, Dima Haas, Sara Tenenbaum, Elena Markant, Julie Sheinkopf, Stephen J. TI Bottom-Up Attention Orienting in Young Children with Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Bottom-up attention; Saliency; Visual attention; Autism; Eye tracking; Social attention ID DIAGNOSTIC OBSERVATION SCHEDULE; SELECTIVE VISUAL-ATTENTION; NEURAL CIRCUITRY; JOINT ATTENTION; PERCEPTION; SEARCH; SPECTRUM; PHENOTYPE; FIXATION; LANGUAGE AB We examined the impact of simultaneous bottom-up visual influences and meaningful social stimuli on attention orienting in young children with autism spectrum disorders (ASDs). Relative to typically-developing age and sex matched participants, children with ASDs were more influenced by bottom-up visual scene information regardless of whether social stimuli and bottom-up scene properties were congruent or competing. This initial reliance on bottom-up strategies correlated with severity of social impairment as well as receptive language impairments. These data provide support for the idea that there is enhanced reliance on bottom-up attention strategies in ASDs, and that this may have a negative impact on social and language development. C1 [Amso, Dima; Haas, Sara; Tenenbaum, Elena; Markant, Julie] Brown Univ, Dept Cognit Linguist & Psychol Sci, Providence, RI 02912 USA. [Tenenbaum, Elena; Sheinkopf, Stephen J.] Brown Univ, Warren Alpert Med Sch, Ctr Study Children Risk, Providence, RI 02912 USA. RP Amso, D (reprint author), Brown Univ, Dept Cognit Linguist & Psychol Sci, 190 Thayer St,Box 1821, Providence, RI 02912 USA. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 664 EP 673 DI 10.1007/s10803-013-1925-5 PG 10 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100016 PM 23996226 ER PT J AU Hanson, LK Atance, CM AF Hanson, Laura K. Atance, Cristina M. TI Brief Report: Episodic Foresight in Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; ASD; Episodic foresight; Future thinking; Theory of mind; Executive function ID MENTAL TIME-TRAVEL; EXECUTIVE FUNCTION; INDIVIDUAL-DIFFERENCES; INHIBITORY CONTROL; FUTURE THINKING; CHILDREN; MIND; MEMORY; SELF; ABILITY AB Episodic foresight (EpF) or, the ability to imagine the future and use such imagination to guide our actions, is an important aspect of cognition that has not yet been explored in children with autism spectrum disorder (ASD). This is despite its proposed links with theory of mind (ToM) and executive function (EF), two areas found to be impaired in ASD. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 674 EP 684 DI 10.1007/s10803-013-1896-6 PG 11 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100017 PM 23893099 ER PT J AU Funahashi, A Gruebler, A Aoki, T Kadone, H Suzuki, K AF Funahashi, Atsushi Gruebler, Anna Aoki, Takeshi Kadone, Hideki Suzuki, Kenji TI Brief Report: The Smiles of a Child with Autism Spectrum Disorder During an Animal-assisted Activity May Facilitate Social Positive Behaviors-Quantitative Analysis with Smile-detecting Interface SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorder; Animal-assisted activity; Smile-detecting interface ID THERAPY; DEMENTIA; DOGS AB We quantitatively measured the smiles of a child with autism spectrum disorder (ASD-C) using a wearable interface device during animal-assisted activities (AAA) for 7 months, and compared the results with a control of the same age. The participant was a 10-year-old boy with ASD, and a normal healthy boy of the same age was the control. They voluntarily participated in this study. Neither child had difficulty putting on the wearable device. They kept putting on the device comfortably through the entire experiment (duration of a session was about 30-40 min). This study was approved by the Ethical Committee based on the rules established by the Institute for Developmental Research, Aichi Human Service Center. The behavior of the participants during AAA was video-recorded and coded by the medical examiner (ME). In both groups, the smiles recognized by the ME corresponded with the computer-detected smiles. In both groups, positive social behaviors increased when the smiles increased. Also, negative social behaviors decreased when the smiles increased in the (ASD-C). It is suggested that by leading the (ASD-C) into a social environment that may cause smiling, the child's social positive behaviors may be facilitated and his social negative behaviors may be decreased. C1 [Funahashi, Atsushi] Aichi Human Serv Ctr, Inst Dev Res, Dept Educ & Social Serv, Kasugai, Aichi 4800392, Japan. [Gruebler, Anna] Univ Tsukuba, Grad Sch Syst & Informat Engn, Tsukuba, Ibaraki 3058573, Japan. [Aoki, Takeshi] Chubu Anim Assisted Therapy Assoc, Chikusa Ku, Nagoya, Aichi 4640007, Japan. [Kadone, Hideki; Suzuki, Kenji] Univ Tsukuba, Ctr Cybern Res, Tsukuba, Ibaraki 3058573, Japan. [Suzuki, Kenji] Japan Sci & Technol Agcy, Kawaguchi, Saitama, Japan. RP Funahashi, A (reprint author), Aichi Human Serv Ctr, Inst Dev Res, Dept Educ & Social Serv, 713-8 Kamiya Cho, Kasugai, Aichi 4800392, Japan. 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Siller, Michael TI Brief Report: Broad Autism Phenotype in Adults is Associated with Performance on an Eye-Tracking Measure of Joint Attention SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Broad autism phenotype; Autism spectrum disorder; Response to joint attention; Gaze following; Eye-tracking; Endophenotype ID NEURAL RESPONSE; SPECTRUM TRAITS; GAZE; CHILDREN; DEFICITS; BRAIN; MOVEMENTS; PREDICT; RISK AB The current study takes advantage of modern eye-tracking technology and evaluates how individuals allocate their attention when viewing social videos that display an adult model who is gazing at a series of targets that appear and disappear in the four corners of the screen (congruent condition), or gazing elsewhere (incongruent condition). Data demonstrated the feasibility of administrating this experimental paradigm to a diverse sample of healthy adult college students (N = 44). 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 694 EP 702 DI 10.1007/s10803-013-1901-0 PG 9 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100019 PM 23921972 ER PT J AU Suter, B Treadwell-Deering, D Zoghbi, HY Glaze, DG Neul, JL AF Suter, Bernhard Treadwell-Deering, Diane Zoghbi, Huda Y. Glaze, Daniel G. Neul, Jeffrey L. TI Brief Report: MECP2 Mutations in People Without Rett Syndrome SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Rett syndrome; Autism; Neurodevelopmental disorders; MECP2; Epigenetics; Neurogenetics ID X-CHROMOSOME INACTIVATION; DIFFERENTIAL-DIAGNOSIS; MENTAL-RETARDATION; FEMALES; AUTISM; GENE; PHENOTYPE; SPECTRUM; SEQUENCE; PATTERNS AB Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient's symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria. C1 [Suter, Bernhard; Zoghbi, Huda Y.; Glaze, Daniel G.; Neul, Jeffrey L.] Baylor Coll Med, Dept Pediat, Sect Child Neurol & Dev Neurosci, Houston, TX 77030 USA. [Treadwell-Deering, Diane] Baylor Coll Med, Menninger Dept Psychiat & Behav Sci, Houston, TX 77030 USA. [Treadwell-Deering, Diane] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA. [Treadwell-Deering, Diane] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA. [Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA. [Zoghbi, Huda Y.; Glaze, Daniel G.; Neul, Jeffrey L.] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA. [Zoghbi, Huda Y.] Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA. [Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA. [Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Program Translat Biol, Houston, TX 77030 USA. [Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Program Mol Med, Houston, TX 77030 USA. [Zoghbi, Huda Y.; Neul, Jeffrey L.] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA. RP Neul, JL (reprint author), Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, 1250 Moursund St,Suite 1250-18, Houston, TX 77030 USA. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 703 EP 711 DI 10.1007/s10803-013-1902-z PG 9 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100020 PM 23921973 ER PT J AU Hoffman, K Vieira, VM Daniels, JL AF Hoffman, Kate Vieira, Veronica M. Daniels, Julie L. TI Brief Report: Diminishing Geographic Variability in Autism Spectrum Disorders Over Time? SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders (ASD); Spatial analyses; Geographic variability; Generalized additive models; Prevalence ID RISK-FACTORS; PREVALENCE; AGE; EPIDEMIOLOGY AB We investigated differences in the geographic distribution of autism spectrum disorders (ASD) over time in central North Carolina with data from the Autism and Developmental Disabilities Monitoring Network. Using generalized additive models and geographic information systems we produced maps of ASD risk in 2002-2004 and 2006-2008. Overall the risk of ASD increased 52.9 % from 2002-2004 to 2006-2008. However, the magnitude of change in risk was not uniform across the study area; while some areas experienced dramatic increases in ASD risk (> 400 %), others experienced slight decreases. Generally, areas with the lowest risk in 2002-2004 experienced the greatest increases over time. Education and outreach efforts in North Carolina expanded during this period, possibly contributing to the observed leveling of risk over time. C1 [Hoffman, Kate; Daniels, Julie L.] Univ N Carolina, Gillings Sch Global Publ Hlth, Chapel Hill, NC 27599 USA. [Vieira, Veronica M.] Boston Univ, Sch Publ Hlth, Boston, MA 02118 USA. [Vieira, Veronica M.] Univ Calif Irvine, Sch Ecol, Irvine, CA 92617 USA. RP Daniels, JL (reprint author), Univ N Carolina, Gillings Sch Global Publ Hlth, CB 7435, Chapel Hill, NC 27599 USA. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 712 EP 718 DI 10.1007/s10803-013-1907-7 PG 7 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100021 PM 23959585 ER PT J AU Pugliese, CE White, SW AF Pugliese, Cara E. White, Susan W. TI Brief Report: Problem Solving Therapy in College Students with Autism Spectrum Disorders: Feasibility and Preliminary Efficacy SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; College; Intervention; Problem solving ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIORAL INTERVENTION; ASPERGERS-SYNDROME; CONTROLLED-TRIAL; CHILDREN; ANXIETY; HOMEWORK; DEFICITS AB Students with autism spectrum disorder (ASD), though academically capable, can have difficulty succeeding in college. Evidence-based intervention to promote effective problem solving may improve quality of life, as well as success and satisfaction in college. This study adapted and piloted a group-based cognitive-behavioral intervention program, Problem Solving Skills: 101 (PSS: 101), to teach effective problem solving ability in college students with ASD. Therapists met all treatment integrity objectives across sessions, four of the five participants completed at least eight of the nine sessions, and between-session assignments were generally completed (83 % completion rate), indicating a high level of treatment adherence. Two participants demonstrated reliable improvement post-intervention in problem solving ability and subjective distress. Further evaluation to assess efficacy of the intervention is warranted. C1 [Pugliese, Cara E.; White, Susan W.] Virginia Polytechn State Inst & Univ, Dept Psychol, Blacksburg, VA 24060 USA. RP Pugliese, CE (reprint author), Virginia Polytechn State Inst & Univ, Dept Psychol, 109 Williams Hall, Blacksburg, VA 24060 USA. 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PD MAR PY 2014 VL 44 IS 3 BP 719 EP 729 DI 10.1007/s10803-013-1914-8 PG 11 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100022 PM 23963592 ER PT J AU Neuhaus, E Bernier, R Beauchaine, TP AF Neuhaus, Emily Bernier, Raphael Beauchaine, Theodore P. TI Brief Report: Social Skills, Internalizing and Externalizing Symptoms, and Respiratory Sinus Arrhythmia in Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Respiratory sinus arrhythmia; Heart rate variability; Emotion regulation; Internalizing; Externalizing; Social skills ID NERVOUS-SYSTEM; SPECTRUM DISORDERS; CONDUCT DISORDER; POLYVAGAL THEORY; VAGAL TONE; CHILDREN; PSYCHOPATHOLOGY; BEHAVIOR; PRESCHOOLERS; PERSPECTIVE AB Theoretical and empirical models describe respiratory sinus arrhythmia (RSA) as a peripheral biomarker of emotion regulation and social competence. Recent findings also link RSA to individual differences in social functioning within autism spectrum disorder (ASD). However, associations between RSA and symptoms of internalizing/externalizing psychopathology in ASD have not been explored. We assessed RSA, social functioning, and internalizing/externalizing symptoms among boys with and without ASD. Compared with controls, participants with ASD evidenced reduced parasympathetic cardiac control, which correlated with social behavior. Symptoms were associated with deficiencies in RSA, over-and-above the contribution of social functioning. These findings yield a more nuanced understanding of parasympathetic function in ASD, and suggest a role for integrative intervention strategies that address socioemotional difficulties. C1 [Neuhaus, Emily; Bernier, Raphael] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Beauchaine, Theodore P.] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA. 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Autism Dev. Disord. PD MAR PY 2014 VL 44 IS 3 BP 730 EP 737 DI 10.1007/s10803-013-1923-7 PG 8 WC Psychology, Developmental SC Psychology GA AA3AK UT WOS:000330965100023 PM 23982488 ER PT J AU Norbury, CF AF Norbury, Courtenay F. TI Practitioner Review: Social (pragmatic) communication disorder conceptualization, evidence and clinical implications SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Review ID AUTISM SPECTRUM DISORDERS; SCHOOL-AGE-CHILDREN; LANGUAGE IMPAIRMENT; WILLIAMS-SYNDROME; CONVERSATIONAL CHARACTERISTICS; DOWN-SYNDROME; SKILLS; CHECKLIST; DEFICITS; ADOLESCENTS C1 [Norbury, Courtenay F.] Univ London, Egham TW20 0EX, Surrey, England. RP Norbury, CF (reprint author), Univ London, Dept Psychol, Egham TW20 0EX, Surrey, England. EM courtenay.norbury@rhul.ac.uk FU Economic and Social Research Council (ESRC) FX The open access fee for this article has been funded by the Economic and Social Research Council (ESRC). 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Psychiatry PD MAR PY 2014 VL 55 IS 3 BP 204 EP 216 PG 13 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA AA9SJ UT WOS:000331432900003 PM 24117874 ER PT J AU Samadi, SA McConkey, R AF Samadi, S. A. McConkey, R. TI The impact on Iranian mothers and fathers who have children with an autism spectrum disorder SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE autism spectrum disorder; health; Iran; parents; stress ID DEVELOPMENTAL-DISABILITIES; BEHAVIOR PROBLEMS; INTELLECTUAL DISABILITIES; PARENTING STRESS; SOCIAL SUPPORT; YOUNG-CHILDREN; MENTAL-HEALTH; DOWN-SYNDROME; FAMILIES; PREDICTORS AB BackgroundTo date, most research with families who have a child with autism spectrum disorder (ASD) has been undertaken in English-speaking countries. Increased levels of stress allied with poorer health have been commonly reported for mothers, with less attention paid to fathers. This study aimed to document the personal impact on Iranian mothers and fathers and identify the correlates of increased stress and poorer emotional well-being. MethodIn all, 103 parents (58 mothers and 45 fathers) from 74 families who had a child with ASD volunteered to take part in the study. Each participant completed through interview, standardised rating scales of parenting stress, emotional well-being and family functioning as well as rating their child's autistic symptoms, including stereotyped behaviours. ResultsMothers had significantly higher scores than fathers on measures of stress and emotional well-being. Although these variables were highly correlated, binary logistic regression identified that the poorer health was also associated with lower educational levels of the parents, more behavioural problems with the child and fewer autistic symptoms overall. A similar regression analysis of stress scores identified no gender differences but found that lower stress was associated with mothers and fathers who were joint caregivers and when the family lived with relatives. ConclusionsIranian parents experience broadly similar responses to parents in other countries, which suggests that the impact of ASD outweighs any cultural differences that might otherwise be present in parental responses to caring for children. In common with families internationally, these parents are likely to benefit from opportunities to become better informed about ASD and the management of their child at home allied with increased support from families and friends. C1 [Samadi, S. A.; McConkey, R.] Univ Ulster, Inst Nursing Res, Newtownabbey, North Ireland. RP McConkey, R (reprint author), Univ Ulster, Inst Nursing Res, Newtownabbey, North Ireland. EM r.mcconkey@ulster.ac.uk CR Abidin R. 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PD MAR PY 2014 VL 28 IS 2 BP 178 EP 178 DI 10.1111/ppe.12108 PG 1 WC Public, Environmental & Occupational Health; Obstetrics & Gynecology; Pediatrics SC Public, Environmental & Occupational Health; Obstetrics & Gynecology; Pediatrics GA AA7JN UT WOS:000331273800013 PM 24494985 ER PT J AU Jonas, RK Montojo, CA Bearden, CE AF Jonas, Rachel K. Montojo, Caroline A. Bearden, Carrie E. TI The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan SO BIOLOGICAL PSYCHIATRY LA English DT Review DE Copy number variant; dopamine; neurodevelopment; pleiotropy; schizophrenia; velocardiofacial/DiGeorge syndrome ID CARDIO-FACIAL SYNDROME; CATECHOL-O-METHYLTRANSFERASE; VELOCARDIOFACIAL SYNDROME DELETION; CORPUS-CALLOSUM MORPHOLOGY; LOW COPY REPEATS; PSYCHIATRIC-DISORDERS; CHROMOSOME 22Q11.2; MOUSE MODEL; COGNITIVE DEFICITS; PSYCHOTIC SYMPTOMS AB Evidence is rapidly accumulating that rare, recurrent copy number variants represent large effect risk factors for neuropsychiatric disorders. 22q11.2 deletion syndrome (22q11DS) (velocardiofacial syndrome or DiGeorge syndrome) is the most common known contiguous gene deletion syndrome and is associated with diverse neuropsychiatric disorders across the life span. One of the most intriguing aspects of the syndrome is the variability in clinical and cognitive presentation: children with 22q11DS have high prevalence of autism spectrum, attention deficit, and anxiety disorders, as well as psychotic-like features, and up to 30% of adolescents and adults develop schizophrenia-like psychosis. Recently, cases of early-onset Parkinson's disease in adults have been reported, collectively suggesting a role for disrupted dopaminergic neurotransmission in the observed neuropsychiatric phenotypes. There is also some evidence that 22q11DS-associated autism spectrum disorder and schizophrenia represent two unrelated phenotypic manifestations, consistent with a neuropsychiatric pleiotropy model. This genetic lesion thus provides a unique model for the discovery of specific genomic risk and (potentially) protective factors for neuropsychiatric disease. Here, we provide an overview of neuropsychiatric findings to date, which highlight the value of this syndrome in mapping the developmental trajectory of dimensional phenotypes that traverse multiple diagnostic categories. Potential sources of genetic variability that may contribute to the disorder's heterogeneous presentation are reviewed. Because of its known genetic etiology, animal models can readily be developed that recapitulate specific aspects of the syndrome. Future research directions involve translational models and potential for drug screenable targets in the context of this human model system. C1 [Jonas, Rachel K.; Bearden, Carrie E.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA. [Montojo, Caroline A.; Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA. RP Bearden, CE (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat & Biobehav Sci, 300 UCLA Med Plaza,Suite 2265, Los Angeles, CA 90095 USA. EM cbearden@mednet.ucla.edu FU National Institute of Mental Health [RO1 MH085953, 5 T32 MH082719-04]; National Institutes of Health/National Institute of Child Health and Human Development [P50-HD-055784] FX This manuscript was partially supported by grants from the National Institute of Mental Health: RO1 MH085953 (CEB), 5 T32 MH082719-04 (CAM), and National Institutes of Health/National Institute of Child Health and Human Development Grant #P50-HD-055784 (Pilot Project Grant to CEB). 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Kahler, Anna K. Sullivan, Patrick F. Kirov, George Warren, Stephen T. CA Mol Genetics Schizophrenia Consort TI Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia SO BIOLOGICAL PSYCHIATRY LA English DT Article DE Autism; 7q11.23 duplication syndrome; psychiatric genetics; schizophrenia; schizophrenia genetics; Williams-Beuren syndrome ID COPY-NUMBER VARIANTS; SUPRAVALVULAR AORTIC STENOSIS; CARDIO-FACIAL SYNDROME; CANDIDATE GENES; HIGH-RISK; POPULATION; EPILEPSY; AUTISM; MICRODELETIONS; REARRANGEMENTS AB Background: Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this region causes Williams-Beuren syndrome. Methods: We assayed an Ashkenazi Jewish cohort of 554 SZ cases and 1014 controls for genome-wide CNV. An excess of large rare and de novo CNVs were observed, including a 1.4 Mb duplication on chromosome 7q11.23 identified in two unrelated patients. To test whether this 7q11.23 duplication is also associated with SZ, we obtained data for 14,387 SZ cases and 28,139 controls from seven additional studies with high-resolution genome-wide CNV detection. We performed a meta-analysis, correcting for study population of origin, to assess whether the duplication is associated with SZ. Results: We found duplications at 7q11.23 in 11 of 14,387 SZ cases with only 1 in 28,139 control subjects (unadjusted odds ratio 21.52, 95% confidence interval: 3.13-922.6, p value 5.5 x 10(-5); adjusted odds ratio 10.8, 95% confidence interval: 1.46-79.62, p value.007). Of three SZ duplication carriers with detailed retrospective data, all showed social anxiety and language delay premorbid to SZ onset, consistent with both human studies and animal models of the 7q11.23 duplication. Conclusions: We have identified a new CNV associated with SZ. Reciprocal duplication of the Williams-Beuren syndrome deletion at chromosome 7q11.23 confers an approximately tenfold increase in risk for SZ. C1 [Mulle, Jennifer Gladys; Dodd, Anne F.] Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA 30222 USA. [Pulver, Ann E.; McGrath, John A.; Wolyniec, Paula S.; Nestadt, Gerald] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30222 USA. [Mulle, Jennifer Gladys; McGrath, John A.; Wolyniec, Paula S.; Nestadt, Gerald] Johns Hopkins Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD USA. [Pulver, Ann E.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. [Sebat, Jonathan; Malhotra, Dheeraj] Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA. [Sebat, Jonathan; Malhotra, Dheeraj] 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. [Sebat, Jonathan] Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA. [Conrad, Donald F.; Hurles, Matthew] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge, England. [Barnes, Chris P.] UCL, Dept Cell & Dev Biol, London, England. [Ikeda, Masashi; Iwata, Nakao] Fujita Hlth Univ, Sch Med, Toyoake, Aichi, Japan. [Levinson, Douglas F.] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA. [Gejman, Pablo V.; Sanders, Alan R.; Duan, Jubao] NorthShore Univ HealthSystem, Dept Psychiat & Behav Sci, Evanston, IL USA. [Gejman, Pablo V.; Sanders, Alan R.; Duan, Jubao] Univ Chicago, Dept Psychiat & Behav Sci, Chicago, IL 60637 USA. [Mitchell, Adele A.] Off Chief Med Examiner, Dept Forens Biol, New York, NY USA. [Peter, Inga] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA. [Sklar, Pamela] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. [Sklar, Pamela; O'Dushlaine, Colm T.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA. [Sklar, Pamela] Mt Sinai Sch Med, Dept Psychiat, Div Psychiat Genom, New York, NY USA. [Grozeva, Detelina; O'Donovan, Michael C.; Owen, Michael J.; Kirov, George] Cardiff Univ, Dept Psychol Med, Cardiff CF10 3AX, S Glam, Wales. [Hultman, Christina M.; Kahler, Anna K.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. [Kahler, Anna K.; Sullivan, Patrick F.] Univ N Carolina, Dept Genet, Chapel Hill, NC USA. [Kahler, Anna K.; Sullivan, Patrick F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. [Kahler, Anna K.] Oslo Univ Hosp, Div Mental Hlth & Addict, Oslo, Norway. [Warren, Stephen T.] Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA. [Warren, Stephen T.] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA 30322 USA. RP Mulle, JG (reprint author), Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, CNR 4053,1518 Clifton Rd, Atlanta, GA 30222 USA. EM jmulle@emory.edu RI Kahler, Anna/J-2874-2012; Mowry, Bryan /G-5046-2010 FU National Institutes of Health [MH080129, MH083722]; National Alliance for Research on Schizophrenia and Depression Young Investigator Award; Stanley Center for Psychiatric Research at the Broad Institute from a Grant from Stanley Medical Research Institute; Karolinska Institutet, Karolinska University Hospital; Swedish Research Council; Swedish County Council; Sderstrm Knigska Foundation; National Institute of Mental Health Schizophrenia Genetics Initiative [U01s: MH46276, MH46289, MH46318, 2 R01s: MH67257, MH59588, MH59571, MH59565, MH59587, MH60870, MH59566, MH59586, MH61675, MH60879]; [MH077139] FX Funding for this study was provided by National Institutes of Health Grants MH080129 and MH083722 to STW and a National Alliance for Research on Schizophrenia and Depression Young Investigator Award to JGM. Support was provided by MH077139 (PFS), the Stanley Center for Psychiatric Research at the Broad Institute from a Grant from Stanley Medical Research Institute, the Karolinska Institutet, Karolinska University Hospital, the Swedish Research Council, ALF grant from Swedish County Council, and Sderstrm Knigska Foundation. Funding support for the companion studies, Genome-Wide Association Study of Schizophrenia (Genetic Association Information Network [GAIN]) and Molecular Genetics of Schizophrenia-nonGAIN Sample (MGS_ nonGAIN), was provided by Genomics Research Branch at the National Institute of Mental Health and the genotyping and analysis of samples was provided through GAIN and under the Molecular Genetics of Schizophrenia (MGS) U01s: MH79469 and MH79470. Assistance with data cleaning was provided by the National Center for Biotechnology Information. The MGS datasets used for the analyses described in this manuscript were obtained from the database of Genotype and Phenotype (dbGaP) found at http://www.ncbi.nlm. nih. gov/gap through dbGaP accession numbers phs000021. v2. p1 (GAIN) and phs000167. v1. p1 (nonGAIN). Samples and associated phenotype data for the MGS genome-wide association study were collected under the following grants: National Institute of Mental Health Schizophrenia Genetics Initiative U01s: MH46276 (C. R. Cloninger), MH46289 (C. Kaufmann), and MH46318 (M. T. Tsuang); and MGS Part 1 and MGS Part 2 R01s: MH67257 (N. G. Buccola), MH59588 (B. J. Mowry), MH59571 (P. V. Gejman), MH59565 (R. Freedman), MH59587 (F. Amin), MH60870 (W. F. Byerley), MH59566 (D. W. Black), MH59586 (J. M. Silverman), MH61675 (D. F. Levinson), and MH60879 (C. R. Cloninger). Further details of collection sites, individuals, and institutions may be found in data supplement Table 1 of Sanders et al. (40) and at the study dbGaP pages. 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Psychiatry PD MAR 1 PY 2014 VL 75 IS 5 BP 371 EP 377 DI 10.1016/j.biopsych.2013.05.040 PG 7 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 304CQ UT WOS:000330724100008 PM 23871472 ER PT J AU Kirov, G Rees, E Walters, JTR Escott-Price, V Georgieva, L Richards, AL Chambert, KD Davies, G Legge, SE Moran, JL McCarroll, SA O'Donovan, MC Owen, MJ AF Kirov, George Rees, Elliott Walters, James T. R. Escott-Price, Valentina Georgieva, Lyudmila Richards, Alexander L. Chambert, Kimberly D. Davies, Gerwyn Legge, Sophie E. Moran, Jennifer L. McCarroll, Steven A. O'Donovan, Michael C. Owen, Michael J. TI The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay SO BIOLOGICAL PSYCHIATRY LA English DT Article DE Autism spectrum disorder; developmental delay; CNV; penetrance; schizophrenia; selection ID RARE CHROMOSOMAL DELETIONS; MENTAL-RETARDATION; AUTISM-SPECTRUM; INCREASE RISK; POPULATION; VARIANTS; DISORDERS; DUPLICATIONS; PREVALENCE; CHILDREN AB Background: Several recurrent copy number variants (CNVs) have been shown to increase the risk of developing schizophrenia (SCZ), developmental delay (DD), autism spectrum disorders (ASD), and various congenital malformations (CM). Their penetrance for SCZ has been estimated to be modest. However, comparisons between their penetrance for SCZ or DD/ASD/CM, or estimates of the total penetrance for any of these disorders have not yet been made. Methods: We use data from the largest available studies on SCZ and DD/ASD/CM, including a new sample of 6882 cases and 6316 controls, to estimate the frequencies of 70 implicated CNVs in carriers with these disorders, healthy control subjects, and the general population. On the basis of these frequencies, we estimate their penetrance. We also estimate the strength of the selection pressure against CNVs and correlate this against their overall penetrance. Results: The rates of nearly all CNVs are higher in DD/ASD/CM compared with SCZ. The penetrance of CNVs is at least several times higher for the development of a disorder from the group of DD/ASD/CM. The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100%. Conclusions: CNVs associated with SCZ have high pathogenicity. The majority of the increased risk conferred by CNVs is toward the development of an earlier-onset disorder, such as DD/ASD/CM, rather than SCZ. The penetrance of CNVs correlates strongly with their selection coefficients. The improved estimates of penetrance will provide crucial information for genetic counselling. C1 [Kirov, George; Rees, Elliott; Walters, James T. R.; Escott-Price, Valentina; Georgieva, Lyudmila; Richards, Alexander L.; Davies, Gerwyn; Legge, Sophie E.; O'Donovan, Michael C.; Owen, Michael J.] Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiatr Genet & Gen, Cardiff CF24 4HQ, S Glam, Wales. [Chambert, Kimberly D.; Moran, Jennifer L.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA. RP Kirov, G (reprint author), Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiatr Genet & Gen, Hadyn Ellis Bldg, Cardiff CF24 4HQ, S Glam, Wales. EM kirov@cardiff.ac.uk FU Medical Research Council (MRC) [G0800509]; European Community's Seventh Framework Programme [HEALTH-F2-2010-241909]; MRC PhD Studentship; Center for Inherited Disease Research (CIDR) [1 X01 HG005274-01]; National Institutes of Health to the Johns Hopkins University [HHSN268200782096C]; Gene Environment Association Studies (GENEVA) Coordinating Center [U01 HG004446]; Collaborative Genetic Study of Nicotine Dependence [P01 CA089392]; University of Wisconsin Transdisciplinary Tobacco Use Research Center [P50 DA019706, P50 CA084724]; National Institutes of Health, Bethesda, Maryland [R01 EY020483]; National Institutes of Health, Bethesda, Maryland; Wellcome Trust Case Control Consortium 2 project [085475/B/08/Z, 085475/Z/08/Z]; Wellcome Trust [072894/Z/03/Z, 090532/Z/09/Z, 075491/ Z/04/B]; National Institute of Mental Health [MH 41953, MH083094, R01 MH67257, R01 MH59588, R01 MH59571, R01 MH59565, R01 MH59587, R01 MH60870, R01 MH59566, R01 MH59586, R01 MH61675, R01 MH60879, R01 MH81800, U01 MH46276, U01 MH46289, U01 MH46318, U01 MH79469, U01 MH79470]; [G0801418]; [3P50CA093459]; [5P50CA097007]; [5R01ES011740]; [5R01CA133996] FX The work at Cardiff University was funded by Medical Research Council (MRC) Centre (G0800509) and Program Grants (G0801418) and the European Community's Seventh Framework Programme (HEALTH-F2-2010-241909 (Project EU-GEI), and an MRC PhD Studentship to ER.The authors acknowledge the contribution of data from outside sources: 1) Genetic Architecture of Smoking and Smoking Cessation accessed through dbGAP: Study Accession: phs000404. v1. p1. Funding support for genotyping, which was performed at the Center for Inherited Disease Research (CIDR), was provided by 1 X01 HG005274-01. CIDR is fully funded through a federal contract from the National Institutes of Health to the Johns Hopkins University, Contract No. HHSN268200782096C. Assistance with genotype cleaning, as well as with general study coordination, was provided by the Gene Environment Association Studies (GENEVA) Coordinating Center (Grant No. U01 HG004446). Funding support for collection of data sets and samples was provided by the Collaborative Genetic Study of Nicotine Dependence (Grant No. P01 CA089392) and the University of Wisconsin Transdisciplinary Tobacco Use Research Center (Grant No. P50 DA019706, P50 CA084724). 2) High Density SNP Association Analysis of Melanoma: Case-Control and Outcomes Investigation, dbGaP Study Accession: phs000187. v1. p1: Research support to collect data and develop an application to support this project was provided by Grant Nos. 3P50CA093459, 5P50CA097007, 5R01ES011740, and 5R01CA133996. 3) Genetic Epidemiology of Refractive Error in the KORA Study, dbGaP Study Accession: phs000303. v1. p1. Principal investigators: Dwight Stambolian, University of Pennsylvania, Philadelphia, Pennsylvania; H. Erich Wichmann, Institut fur Humangenetik, Helmholtz-Zentrum Munchen, Germany, National Eye Institute, National Institutes of Health, Bethesda, Maryland. Funded by Grant No. R01 EY020483, National Institutes of Health, Bethesda, Maryland. 4) Wellcome Trust Case Control Consortium 2 study: Samples were downloaded from https://www. ebi. ac. uk/ega/and include samples from the National Blood Donors Cohort (EGAD00000000024) and samples from the 1958 British Birth Cohort (EGAD00000000022). Funding for these projects was provided by the Wellcome Trust Case Control Consortium 2 project (Grant Nos. 085475/B/08/Z and 085475/Z/08/Z), the Wellcome Trust (Grant Nos. 072894/Z/03/Z, 090532/Z/09/Z, and 075491/ Z/04/B), and the National Institute of Mental Health (Grant Nos. MH 41953 and MH083094). 5) Molecular Genetics of Schizophrenia study, funding support for the Genome-Wide Association of Schizophrenia Study was provided by the National Institute of Mental Health (Grant Nos. R01 MH67257, R01 MH59588, R01 MH59571, R01 MH59565, R01 MH59587, R01 MH60870, R01 MH59566, R01 MH59586, R01 MH61675, R01 MH60879, R01 MH81800, U01 MH46276, U01 MH46289 U01 MH46318, U01 MH79469, and U01 MH79470), and the genotyping of samples was provided through the Genetic Association Information Network (GAIN). The data sets used for the analyses described in this article were obtained from the database of Genotypes and Phenotypes (dbGaP) found at http://www.ncbi.nlm.nih.gov/gap through dbGaP accession numbers phs000021. v3. p2 and phs000167. v1. p1. Samples and associated phenotype data for the Genome-Wide Association of Schizophrenia Study were provided by the Molecular Genetics of Schizophrenia Collaboration (principal investigator: Pablo V. Gejman, Evanston Northwestern Healthcare and Northwestern University, Evanston, Illinois). 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Psychiatry PD MAR 1 PY 2014 VL 75 IS 5 BP 378 EP 385 DI 10.1016/j.biopsych.2013.07.022 PG 8 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 304CQ UT WOS:000330724100009 PM 23992924 ER PT J AU Hernan, AE Alexander, A Jenks, KR Barry, J Lenck-Santini, PP Isaeva, E Holmes, GL Scott, RC AF Hernan, Amanda E. Alexander, Abigail Jenks, Kyle R. Barry, Jeremy Lenck-Santini, Pierre-Pascal Isaeva, Elena Holmes, Gregory L. Scott, Rod C. TI Focal epileptiform activity in the prefrontal cortex is associated with long-term attention and sociability deficits SO NEUROBIOLOGY OF DISEASE LA English DT Article DE Pediatric epilepsy; Interictal spikes; Attention; Social behavior; Short-term plasticity; Prefrontal cortex ID LATERAL GENICULATE-NUCLEUS; LANDAU-KLEFFNER SYNDROME; REACTION-TIME-TASK; NEONATAL SEIZURES; SYNAPTIC PLASTICITY; FEBRILE SEIZURES; OPEN-FIELD; RAT PUPS; EPILEPSY; CHILDHOOD AB There is a well-described association between childhood epilepsy and pervasive cognitive and behavioral deficits. Often these children not only have ictal EEG events, but also frequent interictal abnormalities. The precise role of these interictal discharges in cognition remains unclear. In order to understand the relationship between frequent epileptiform discharges during neurodevelopment and cognition later in life, we developed a model of frequent focal interictal spikes (IIS). Postnatal day (p) 21 rats received injections of bicuculline methiodine into the prefrontal cortex (PFC). Injections were repeated in order to achieve 5 consecutive days of transient inhibitory/ excitatory imbalance resulting in IIS. Short-term plasticity (STP) and behavioral outcomes were studied in adulthood. IIS is associated with a significant increase in STP bilaterally in the PFC. IIS rats did not show working memory deficits, but rather showed marked inattentiveness without significant alterations in motivation, anxiety or hyperactivity. Rats also demonstrated significant deficits in social behavior. We conclude that GABAergic blockade during early-life and resultant focal IIS in the PFC disrupt neural networks and are associated with long-term consequences for behavior at a time when IIS are no longer present, and thus may have important implications for ADHD and autism spectrum disorder associated with childhood epilepsy. (C) 2013 Elsevier Inc. All rights reserved. C1 [Hernan, Amanda E.; Alexander, Abigail; Jenks, Kyle R.; Barry, Jeremy] Geisel Sch Med Dartmouth, Program Expt & Mol Med Dartmouth, Dept Neurol, Lebanon, NH 03756 USA. [Isaeva, Elena] State Key Lab Mol & Cellular Biol, UA-01601 Kiev, Ukraine. [Hernan, Amanda E.; Barry, Jeremy; Lenck-Santini, Pierre-Pascal; Isaeva, Elena; Holmes, Gregory L.; Scott, Rod C.] Univ Vermont, Coll Med, Dept Neurol Sci, Burlington, VT 05405 USA. [Scott, Rod C.] UCL, Inst Child Hlth, London WC1N 1EH, England. RP Hernan, AE (reprint author), 95 Carrigan Dr,Stafford 118F, Burlington, VT 05405 USA. EM Amanda.Hernan@uvm.edu FU Emmory R. Shapses Research Fund (GLH) [R01NS075249 (RCS), R01NS076763 (PPLS)]; Great Ormond Street Children's Charity; State Foundation of Fundamental Research of Ukraine [F46.2/001]; [1R01NS073083] FX This work was supported by 1R01NS073083 (awarded to GLH), Emmory R. Shapses Research Fund (GLH), R01NS075249 (RCS) and R01NS076763 (PPLS). RCS is funded by Great Ormond Street Children's Charity. El is funded by State Foundation of Fundamental Research of Ukraine F46.2/001. 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Dis. PD MAR PY 2014 VL 63 BP 25 EP 34 DI 10.1016/j.nbd.2013.11.012 PG 10 WC Neurosciences SC Neurosciences & Neurology GA 304LS UT WOS:000330749000004 PM 24269731 ER PT J AU Radley, KC Jenson, WR Clark, E O'Neill, RE AF Radley, Keith C. Jenson, William R. Clark, Elaine O'Neill, Robert E. TI THE FEASIBILITY AND EFFECTS OF A PARENT-FACILITATED SOCIAL SKILLS TRAINING PROGRAM ON SOCIAL ENGAGEMENT OF CHILDREN WITH AUTISM SPECTRUM DISORDERS SO PSYCHOLOGY IN THE SCHOOLS LA English DT Article ID HIGH-FUNCTIONING CHILDREN; BEHAVIORAL-DISORDERS; YOUNG-CHILDREN; INTERVENTIONS; METAANALYSIS; STUDENTS AB Due to impairments in social interactions and communication, children with autism spectrum disorders (ASD) have a need for effective social skills training programs. However, many programs fail due to a lack of acquisition, maintenance, and generalization of target skills. The primary purpose of this study was to evaluate the feasibility and outcomes of a parent-facilitated social skills training program, designed to overcome the shortcomings of acquisition, generalization, and maintenance of other programs for children with ASD. Participants in the current study included 5 children with ASD and their parents, recruited from a western state. This study expands previous research by training parents in implementation of a social skills training program comprising several evidence-based practices. The results of the parent-facilitated intervention are provided, and implications for practice and future research are discussed. C1 [Radley, Keith C.] Univ So Mississippi, Hattiesburg, MS 39401 USA. [Jenson, William R.; Clark, Elaine; O'Neill, Robert E.] Univ Utah, Salt Lake City, UT 84112 USA. RP Radley, KC (reprint author), Univ So Mississippi, Dept Psychol, 118 Coll Dr 5025, Hattiesburg, MS 39401 USA. 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Schools PD MAR PY 2014 VL 51 IS 3 BP 241 EP 255 DI 10.1002/pits.21749 PG 15 WC Psychology, Educational SC Psychology GA 297PQ UT WOS:000330267800002 ER PT J AU Etz, T Reetz, H Wegener, C Bahlmann, F AF Etz, Tanja Reetz, Henning Wegener, Carla Bahlmann, Franz TI Infant cry reliability: Acoustic homogeneity of spontaneous cries and pain-induced cries SO SPEECH COMMUNICATION LA English DT Article DE Infant cry; Reliability; Acoustic analysis ID AUTISM SPECTRUM DISORDER; NEWBORN-INFANTS; HEARING IMPAIRMENT; SOUND SPECTROGRAM; AGREEMENT; DIAGNOSIS; EXPOSURE; STIMULI; MELODY; RISK AB Infant cries can indicate certain developmental disorders and therefore may be suited for early diagnosis. An open research question is which type of crying (spontaneous, pain-induced) is best suited for infant cry analysis. For estimating the degree of consistency among single cries in an episode of crying, healthy infants were recorded and allocated to the four groups spontaneous cries, spontaneous non-distressed cries, pain-induced cries and pain-induced cries without the first cry after pain stimulus. 19 acoustic parameters were computed and statistically analyzed on their reliability with Krippendorff's Alpha. Krippendorff's Alpha values between 0.184 and 0.779 were reached over all groups. No significant differences between the cry groups were found. However, the non-distressed cries reached the highest alpha values in 16 out of 19 acoustic parameters by trend. The results show that the single cries within an infant's episode of crying are not very reliable in general. For the cry types, the non-distressed cry is the one with the best reliability making it the favorite for infant cry analysis. (C) 2013 Elsevier B.V. All rights reserved. C1 [Etz, Tanja; Wegener, Carla] Fresenius Univ Appl Sci Idstein, D-65510 Idstein, Germany. [Etz, Tanja; Reetz, Henning] Goethe Univ Frankfurt, Dept Phonet, D-60325 Frankfurt, Germany. [Bahlmann, Franz] Burgerhosp Frankfurt Main, D-60318 Frankfurt, Germany. RP Etz, T (reprint author), Mullerwies 14, D-65232 Taunusstein, Germany. 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PD MAR PY 2014 VL 58 BP 91 EP 100 DI 10.1016/j.specom.2013.11.006 PG 10 WC Acoustics; Computer Science, Interdisciplinary Applications SC Acoustics; Computer Science GA 293FE UT WOS:000329956000007 ER PT J AU Head, AM McGillivray, JA Stokes, MA AF Head, Alexandra M. McGillivray, Jane A. Stokes, Mark A. TI Gender differences in emotionality and sociability in children with autism spectrum disorders SO MOLECULAR AUTISM LA English DT Article DE Autism; Female profile; Friendship; Social skills ID HIGH-FUNCTIONING CHILDREN; SEX-DIFFERENCES; FRIENDSHIP INTERACTIONS; UNDERSTANDING OTHERS; ASPERGER-SYNDROME; SOCIAL NETWORKS; EARLY-CHILDHOOD; TRADE-OFFS; BOYS; GIRLS AB Background: Four times as many males are diagnosed with high functioning autism compared to females. A growing body of research that focused on females with autism spectrum disorder (ASD) questions the assumption of gender invariance in ASD. Clinical observations suggest that females with ASD superficially demonstrate better social and emotional skills than males with ASD, which may camouflage other diagnostic features. This may explain the under-diagnosis of females with ASD. Methods: We hypothesised that females with ASD would display better social skills than males with ASD on a test of friendship and social function. One hundred and one 10-to 16-year-olds (ASD females, n = 25; typically developing (TD) females, n = 25; ASD males, n = 25; TD males, n = 26) were interviewed (using the friendship questionnaire (FQ)) with high scores indicating the child has close, empathetic and supportive relationships. One parent of each child completed the FQ to assess whether there are differences in perception of friendships between parents and children. Results: It was found that, independent of diagnosis, females demonstrated higher scores on the FQ than males. 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EM jane.mcgillivray@deakin.edu.au CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Attwood T., 2000, AUTISM, V4, P85, DOI DOI 10.1177/1362361300004001006 Attwood T, 2011, HEARTS MINDS C GIRLS Attwood T., 2007, COMPLETE GUIDE ASPER Baines E, 2009, BRIT J DEV PSYCHOL, V27, P743, DOI 10.1348/026151008X371114 Baron-Cohen S, 2003, J AUTISM DEV DISORD, V33, P509, DOI 10.1023/A:1025879411971 Bauminger N, 2010, J AUTISM DEV DISORD, V40, P751, DOI 10.1007/s10803-009-0928-8 Bauminger N, 2008, J AUTISM DEV DISORD, V38, P1211, DOI 10.1007/s10803-007-0501-2 Bauminger N, 2003, AUTISM, V7, P81, DOI 10.1177/1362361303007001007 Boyle DE, 2003, AM BEHAV SCI, V46, P1326, DOI 10.1177/0002764203251474 Carrington S., 2003, FOCUS AUTISM OTHER D, V18, P211, DOI 10.1177/10883576030180040201 Carter AS, 2007, J AUTISM DEV DISORD, V37, P86, DOI 10.1007/s10803-006-0331-7 Chamberlain B, 2007, J AUTISM DEV DISORD, V37, P230, DOI 10.1007/s10803-006-0164-4 Constantino JN, 2012, J AM ACAD CHILD PSY, V51, P756, DOI 10.1016/j.jaac.2012.05.017 Cook BG, 1999, J SPEC EDUC, V33, P50, DOI 10.1177/002246699903300105 Daniel LS, 2010, FOCUS AUTISM DEV DIS, V25, P220, DOI 10.1177/1088357610378290 De Goede IHA, 2009, J ADOLESCENCE, V32, P1105, DOI 10.1016/j.adolescence.2009.03.002 Dunn J, 2000, INT J BEHAV DEV, V24, P142 Dunn J., 2004, CHILDRENS FRIENDSHIP Dunn J, 1999, SOC DEV, V8, P201, DOI 10.1111/1467-9507.00091 Dunn J, 2000, BRIT J DEV PSYCHOL, V18, P159, DOI 10.1348/026151000165625 Dworzynski K, 2012, J AM ACAD CHILD PSY, V51, P788, DOI 10.1016/j.jaac.2012.05.018 EDER D, 1978, AM SOCIOL REV, V43, P237, DOI 10.2307/2094701 Elsabbagh M, 2012, AUTISM RES, V5, P160, DOI 10.1002/aur.239 Field A., 2005, DISCOVERING STAT USI, V2nd Gifford-Smith ME, 2003, J SCHOOL PSYCHOL, V41, P235, DOI 10.1016/S0022-4405(03)00048-7 Harris P. 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Autism PD FEB 28 PY 2014 VL 5 AR 19 DI 10.1186/2040-2392-5-19 PG 9 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF4XM UT WOS:000334717900001 PM 24576331 ER PT J AU Lin, IF Kashino, M Ohta, H Yamada, T Tani, M Watanabe, H Kanai, C Ohno, T Takayama, Y Iwanami, A Kato, N AF Lin, I-Fan Kashino, Makio Ohta, Haruhisa Yamada, Takashi Tani, Masayuki Watanabe, Hiromi Kanai, Chieko Ohno, Taisei Takayama, Yuko Iwanami, Akira Kato, Nobumasa TI The effect of intranasal oxytocin versus placebo treatment on the autonomic responses to human sounds in autism: a single-blind, randomized, placebo-controlled, crossover design study SO MOLECULAR AUTISM LA English DT Article DE Autism; Oxytocin; Clinical trial; Auditory; Social cognition; Skin conductance response; Autonomic system ID RECEPTOR GENE OXTR; SPECTRUM DISORDERS; AUDITORY-STIMULI; NORMAL-CHILDREN; SOCIAL COGNITION; NEURAL CIRCUITRY; EYE GAZE; ASSOCIATION; ADULTS; FACES AB Background: Many individuals with autism spectrum disorders (ASD) have difficulty with verbal communication, which might be due to a lack of spontaneous orientation toward social auditory stimuli. Previous studies have shown that a single dose of oxytocin improves speech comprehension in autism. The primary aim of this study was to investigate whether the orientation behaviors toward human sounds are different for neurotypical (NT) adults and adults with ASD and whether oxytocin has an effect on their orientation behaviors toward human sounds. Methods: This was a randomized, placebo-controlled, within-subject, crossover design study of intranasal oxytocin versus placebo in 13 NT adults and 16 adults with ASD. Subjects were randomized to 24 IU intranasal oxytocin or placebo on different days, and they were blind to the treatment. The participants then listened passively to human and non-human affective sounds while their skin conductance responses (SCRs) and the changes in peripheral blood vessel constriction were monitored as an indicator of spontaneous orientation. The monitored data were analyzed by a mixed-design ANOVA. Results: Oxytocin enhanced the difference between the SCRs to human and non-human sounds in both the NT and ASD groups (F(1,56) = 6.046, p = 0.017). Further correlation coefficient analysis showed significant correlations between this SCR difference and the scores in the autism spectrum quotient 'attention to detail' and 'social skill' subscales and interpersonal reactivity index and social functioning scale in the ASD group. Oxytocin was well tolerated, and no serious adverse effects were reported. Conclusions: The difference in SCRs implies that oxytocin nasal spray may enhance orientation behaviors toward human sounds in the presence of other environmental sounds in both ASD and NT adults. C1 [Lin, I-Fan; Kashino, Makio] NTT Corp, NTT Commun Sci Labs, Atsugi, Kanagawa 2430198, Japan. [Kashino, Makio] JST, CREST, Atsugi, Kanagawa 2430198, Japan. [Ohta, Haruhisa; Yamada, Takashi; Tani, Masayuki; Watanabe, Hiromi; Kanai, Chieko; Ohno, Taisei; Takayama, Yuko; Iwanami, Akira; Kato, Nobumasa] Showa Univ, Dept Psychiat, Sch Med, Shinagawa Ku, Tokyo 1428555, Japan. [Kato, Nobumasa] JST, CREST, Shinagawa Ku, Tokyo 1428555, Japan. RP Lin, IF (reprint author), NTT Corp, NTT Commun Sci Labs, 3-1 Morinosato, Atsugi, Kanagawa 2430198, Japan. EM lin.ifan@lab.ntt.co.jp FU Japan Science and Technology Agency; NTT Communication Science Laboratories FX We would like to thank all the participants for their time and effort. This study is supported by the Japan Science and Technology Agency and NTT Communication Science Laboratories. 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Autism PD FEB 28 PY 2014 VL 5 AR 20 DI 10.1186/2040-2392-5-20 PG 10 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF8KX UT WOS:000334965800001 PM 24576333 ER PT J AU Prieto, MJ Zabala, NED Marotta, CH Gutierrez, HC Arevalo, RA Chiaramoni, NS Alonso, SD AF Jimena Prieto, Maria del Rio Zabala, Nahuel Eduardo Hernan Marotta, Cristian Carreno Gutierrez, Hector Arevalo Arevalo, Rosario Silvia Chiaramoni, Nadia del Valle Alonso, Silvia TI Optimization and In Vivo Toxicity Evaluation of G4.5 Pamam Dendrimer-Risperidone Complexes SO PLOS ONE LA English DT Article ID ORAL-DRUG DELIVERY; POLY(AMIDOAMINE) DENDRIMERS; ANTIPSYCHOTIC-DRUGS; VISUAL PATHWAY; CELL VIABILITY; ZEBRAFISH; CARRIERS; BRAIN; MODEL; AUTISM AB Risperidone is an approved antipsychotic drug belonging to the chemical class of benzisoxazole. This drug has low solubility in aqueous medium and poor bioavailability due to extensive first-pass metabolism and high protein binding (>90%). Since new strategies to improve efficient treatments are needed, we studied the efficiency of anionic G4.5 PAMAM dendrimers as nanocarriers for this therapeutic drug. To this end, we explored dendrimer-risperidone complexation dependence on solvent concentration, pH and molar relationship. The best dendrimer-risperidone incorporation (46 risperidone molecules per dendrimer) was achieved with a mixture of chloroform: methanol 50:50 v/v solution pH 3. In addition, to explore the possible effects of this complex, in vivo studies were carried out in the zebrafish model. Changes in the development of dopaminergic neurons and motoneurons were studied using tyrosine hydroxylase and calretinin, respectively. Physiological changes were studied through histological sections stained with hematoxylin-eosin to observe possible morphological brain changes. The most significant changes were observed when larvae were treated with free risperidone, and no changes were observed when larvae were treated with the complex. C1 [Jimena Prieto, Maria; del Rio Zabala, Nahuel Eduardo; Hernan Marotta, Cristian; Silvia Chiaramoni, Nadia; del Valle Alonso, Silvia] Natl Univ Quilmes, Dept Sci & Technol, Biomembrane Lab, Buenos Aires, DF, Argentina. [Jimena Prieto, Maria; del Rio Zabala, Nahuel Eduardo; Hernan Marotta, Cristian; Silvia Chiaramoni, Nadia; del Valle Alonso, Silvia] CCT La Plata, CONICET, IMBICE, La Plata, Buenos Aires, Argentina. [Carreno Gutierrez, Hector; Arevalo Arevalo, Rosario] Univ Salamanca, Sch Med, Dept Cell Biol & Pathol, Inst Neurosci Castilla & Leon, E-37008 Salamanca, Spain. RP Prieto, MJ (reprint author), Natl Univ Quilmes, Dept Sci & Technol, Biomembrane Lab, Buenos Aires, DF, Argentina. EM jprieto@unq.edu.ar FU Universidad Nacional de Quilmes (Buenos Aires, Argentina); Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET, Argentina); Ministerio Nacional de Ciencia, Tecnologia e Innovacion Productiva (MINCYT), Buenos Aires (Argentina) FX This research was supported by a grant from Universidad Nacional de Quilmes (Buenos Aires, Argentina), Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET, Argentina) and Ministerio Nacional de Ciencia, Tecnologia e Innovacion Productiva (MINCYT), Buenos Aires (Argentina). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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We used diffusion weighted MRI tractography to investigate whether structural changes associated with reduced number and size of PC, could be detected in vivo by measuring streamlines connecting the posterior-lateral region of the cerebellar cortex to the dentate nucleus using as independent component analysis with a ball and stick model. Seed regions were identified in the cerebellar cortex, and streamlines were identified to two sorting regions, the dorsal dentate nucleus (DDN) and the ventral dentate nucleus (VDN), and probability of connection and measures of directional coherence for these streamlines were calculated. Tractography was performed in 14 typically developing children (TD) and 15 children with diagnoses of ASD. Decreased numbers of streamlines were found in the children with ASD in the pathway connecting cerebellar cortex to the right VDN (p-value = 0.015). Reduced fractional anisotrophy (FA) values were observed in pathways connecting the cerebellar cortex to the right DDN (p-value = 0.008), the right VDN (p-value = 0.010) and left VDN (p-value = 0.020) in children with ASD compared to the TD group. In an analysis of single subjects, reduced FA in the pathway connecting cerebellar cortex to the right VDN was found in 73% of the children in the ASD group using a threshold of 3 standard errors of the TD group. The detection of diffusion changes in cerebellum may provide an in vivo biomarker of Purkinje cell pathology in children with ASD. C1 [Jeong, Jeong-Won; Tiwari, Vijay N.; Behen, Michael E.; Chugani, Harry T.; Chugani, Diane C.] Wayne State Univ, Dept Pediat & Neurol, Detroit, MI 48201 USA. [Jeong, Jeong-Won; Tiwari, Vijay N.; Behen, Michael E.; Chugani, Harry T.; Chugani, Diane C.] Childrens Hosp Michigan, PET Ctr, Translat Imaging Lab, Detroit, MI 48201 USA. 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Hum. Neurosci. PD FEB 28 PY 2014 VL 8 AR 110 DI 10.3389/fnhum.2014.00110 PG 11 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA AB9XW UT WOS:000332150000001 PM 24592234 ER PT J AU Marchese, M Conti, V Valvo, G Moro, F Muratori, F Tancredi, R Santorelli, FM Guerrini, R Sicca, F AF Marchese, Maria Conti, Valerio Valvo, Giulia Moro, Francesca Muratori, Filippo Tancredi, Raffaella Santorelli, Filippo M. Guerrini, Renzo Sicca, Federico TI Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening SO BMC MEDICAL GENETICS LA English DT Article DE Autism spectrum disorders; Autism-epilepsy phenotype; Macrocephaly; GLIALCAM; PTEN ID HEAD CIRCUMFERENCE GROWTH; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; SPECTRUM DISORDERS; SUBCORTICAL CYSTS; CHLORIDE CHANNEL; MUTATIONS; CELL; ASTROCYTES; MLC1; RETARDATION AB Background: With a complex and extremely high clinical and genetic heterogeneity, autism spectrum disorders (ASD) are better dissected if one takes into account specific endophenotypes. Comorbidity of ASD with epilepsy (or paroxysmal EEG) has long been described and seems to have strong genetic background. Macrocephaly also represents a well-known endophenotype in subgroups of ASD individuals, which suggests pathogenic mechanisms accelerating brain growth in early development and predisposing to the disorder. We attempted to estimate the association of gene variants with neurodevelopmental disorders in patients with autism-epilepsy phenotype (AEP) and cranial overgrowth, analyzing two genes previously reported to be associated with autism and macrocephaly. Methods: We analyzed the coding sequences and exon-intron boundaries of GLIALCAM, encoding an IgG-like cell adhesion protein, in 81 individuals with Autism Spectrum Disorders, either with or without comorbid epilepsy, paroxysmal EEG and/or macrocephaly, and the PTEN gene in the subsample with macrocephaly. Results: Among 81 individuals with ASD, 31 had concurrent macrocephaly. Head circumference, moreover, was over the 99.7th percentile ('' extreme '' macrocephaly) in 6/31 (19%) patients. Whilst we detected in GLIALCAM several single nucleotide variants without clear pathogenic effects, we found a novel PTEN heterozygous frameshift mutation in one case with '' extreme '' macrocephaly, autism, intellectual disability and seizures. Conclusions: We did not find a clear association between GLIALCAM mutations and AEP-macrocephaly comorbidity. The identification of a novel frameshift variant of PTEN in a patient with '' extreme '' macrocephaly, autism, intellectual disability and seizures, confirms this gene as a major candidate in the ASD-macrocephaly endophenotype. The concurrence of epilepsy in the same patient also suggests that PTEN, and the downstream signaling pathway, might deserve to be investigated in autism-epilepsy comorbidity. Working on clinical endophenotypes might be of help to address genetic studies and establish actual causative correlations in autism-epilepsy. C1 [Marchese, Maria; Moro, Francesca; Santorelli, Filippo M.] IRCCS Stella Maris Fdn, Mol Med Unit, I-56128 Pisa, Calambrone, Italy. [Conti, Valerio; Guerrini, Renzo] A Meyer Pediat Hosp, Child Neurol Unit, I-50139 Florence, Italy. [Valvo, Giulia; Guerrini, Renzo; Sicca, Federico] IRCCS Stella Maris Fdn, Clin Neurophysiol Lab, I-56128 Pisa, Calambrone, Italy. [Muratori, Filippo; Tancredi, Raffaella] IRCCS Stella Maris Fdn, Dev Psychiat Unit, I-56128 Pisa, Calambrone, Italy. RP Sicca, F (reprint author), IRCCS Stella Maris Fdn, Clin Neurophysiol Lab, Viale Tirreno 331, I-56128 Pisa, Calambrone, Italy. EM federico.sicca@fsm.unipi.it FU Telethon-Italy [GGP11188]; Fondazione Cassa di Risparmio di Lucca; European Union; E-Rare-2; TUB-GENCODEV [11-027] FX The financial support of Telethon-Italy (http://www.telethon.it/en; Grant no. GGP11188) is gratefully acknowledged. The financial contribution of Fondazione Cassa di Risparmio di Lucca, and of the European Union (European Research Projects on Rare Diseases, E-Rare-2, TUB-GENCODEV, 11-027) are also acknowledged. Finally, we wish to thank Dr. Catherine J. Wrenn for expert editorial assistance. 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Genet. PD FEB 27 PY 2014 VL 15 AR 26 DI 10.1186/1471-2350-15-26 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA AF2IF UT WOS:000334535100001 PM 24580998 ER PT J AU Stessman, HA Bernier, R Eichler, EE AF Stessman, Holly A. Bernier, Raphael Eichler, Evan E. TI A Genotype-First Approach to Defining the Subtypes of a Complex Disease SO CELL LA English DT Article ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; CLUSTER-ANALYSIS; CHILDREN; TIME; PHENOTYPE; DISCOVERY; GENOME AB Medical genetics typically entails the detailed characterization of a patient's phenotypes followed by genotyping to discover the responsible gene or mutation. Here, we propose that the systematic discovery of genetic variants associated with complex diseases such as autism are progressing to a point where a reverse strategy may be fruitful in assigning the pathogenic effects of many different genes and in determining whether particular genotypes manifest as clinically recognizable phenotypes. This "genotype-first" approach for complex disease necessitates the development of large, highly integrated networks of researchers, clinicians, and patient families, with the promise of improved therapies for subsets of patients. C1 [Stessman, Holly A.; Eichler, Evan E.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. [Bernier, Raphael] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Eichler, Evan E.] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA. RP Eichler, EE (reprint author), Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. EM eee@gs.washington.edu FU U.S. National Institute of Mental Health (NIMH) [MH101221]; Simons Foundation Autism Research Initiative (SFARI) [303241] FX This work was supported, in part, by U.S. National Institute of Mental Health (NIMH) grant MH101221 and by the Simons Foundation Autism Research Initiative (SFARI) 303241 to E.E.E. E.E.E. is an investigator of the Howard Hughes Medical Institute. E.E.E. is on the scientific advisory boards (SABs) of DNAnexus, Inc. and was an SAB member of Pacific Biosciences, Inc. (2009-2013) and SynapDx Corp. (2011-2013). 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Eapen, Valsamma TI Balance within the neurexin trans-synaptic connexus stabilizes behavioral control SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE neurexin; NLGN; LRRTM; CBLN; GRID; LRRN; Autism; Tourette ID AUTISM SPECTRUM DISORDERS; LA-TOURETTE-SYNDROME; COPY NUMBER VARIANTS; OBSESSIVE-COMPULSIVE DISORDER; DE-NOVO MUTATIONS; TRANSMEMBRANE PROTEINS; SYNAPSE MATURATION; AMPA RECEPTORS; RARE DELETIONS; FAMILY AB Autism spectrum disorder (ASD) is characterized by a broad spectrum of behavioral deficits of unknown etiology. ASD associated mutations implicate numerous neurological pathways including a common association with the neurexin trans-synaptic connexus (NTSC) which regulates neuronal cell-adhesion, neuronal circuitry, and neurotransmission. Comparable DNA lesions affecting the NTSC, however, associate with a diversity of behavioral deficits within and without the autism spectrum including a very strong association with Tourette syndrome. The NTSC is comprised of numerous post-synaptic ligands competing for trans-synaptic connection with one of the many different neurexin receptors yet no apparent association exists between specific NTSC molecules/complexes and specific behavioral deficits. Together these findings indicate a fundamental role for NTSC-balance in stabilizing pre-behavioral control. Further molecular and clinical characterization and stratification of ASD and TS on the basis of NTSC status will help elucidate the molecular basis of behavior - and define how the NTSC functions in combination with other molecular determinates to strengthen behavioral control and specify behavioral deficits. C1 [Clarke, Raymond A.] Univ Western Sydney, Sch Med, Ingham Inst, Sydney, NSW 2170, Australia. [Eapen, Valsamma] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia. [Eapen, Valsamma] Liverpool Hosp, South West Sydney AUCS, Sydney, NSW, Australia. 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Hum. Neurosci. PD FEB 27 PY 2014 VL 8 AR 52 DI 10.3389/fnhum.2014.00052 PG 6 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA AB9MU UT WOS:000332119100001 PM 24578685 ER PT J AU Ziv, N Radin, S AF Ziv, Naomi Radin, Shulamit TI Absolute and relative pitch: Global versus local processing of chords SO ADVANCES IN COGNITIVE PSYCHOLOGY LA English DT Article DE absolute pitch; relative pitch; global processing; local processing ID MUSICAL INTERVALS; HIGH-PERFORMANCE; PERCEPTION; AUTISM; MUSICIANS; BRAIN; IDENTIFICATION; POSSESSORS; RECOGNITION; COGNITION AB Absolute pitch (AP) is the ability to identify or produce notes without any reference note. An ongoing debate exists regarding the benefits or disadvantages of AP in processing music. One of the main issues in this context is whether the categorical perception of pitch in AP possessors may interfere in processing tasks requiring relative pitch (RP). Previous studies, focusing mainly on melodic and interval perception, have obtained inconsistent results. The aim of the present study was to examine the effect of AP and RP separately, using isolated chords. Seventy-three musicians were categorized into four groups of high and low AP and RP, and were tested on two tasks: identifying chord types (Task 1), and identifying a single note within a chord (Task 2). A main effect of RP on Task 1 and an interaction between AP and RP in reaction times were found. On Task 2 main effects of AP and RP, and an interaction were found, with highest performance in participants with both high AP and RP. Results suggest that AP and RP should be regarded as two different abilities, and that AP may slow down reaction times for tasks requiring global processing. C1 [Ziv, Naomi] Coll Management Acad Studies, Dept Psychol, Rishon Leziyyon, Israel. [Radin, Shulamit] Tel Aviv Yafo Acad Coll, Dept Behav Sci, Tel Aviv, Israel. 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TI Using quantitative and analytic EEG methods in the understanding of connectivity in autism spectrum disorders: a theory of mixed over- and under-connectivity SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE autism spectrum disorders; EEG/MEG; connectivity analysis; coherence analysis; sLORETA; granger causation analysis ID REDUCED FUNCTIONAL CONNECTIVITY; ELECTROMAGNETIC TOMOGRAPHY; SOCIAL COGNITION; FRONTAL-CORTEX; BRAIN; EPILEPSY; COHERENCE; CHILDREN; MODEL; LOCALIZATION AB Neuroimaging technologies and research has shown that autism is largely a disorder of neuronal connectivity. While advanced work is being done with fMRI, MRI-DTI, SPECT and other forms of structural and functional connectivity analyses, the use of EEG for these purposes is of additional great utility. Cantor et al. (1986) were the first to examine the utility of pairwise coherence measures for depicting connectivity impairments in autism. Since that time research has shown a combination of mixed over and under-connectivity that is at the heart of the primary symptoms of this multifaceted disorder. Nevertheless, there is reason to believe that these simplistic pairwise measurements under represent the true and quite complicated picture of connectivity anomalies in these persons. We have presented three different forms of multivariate connectivity analysis with increasing levels of sophistication (including one based on principle components analysis, sLORETA source coherence, and Granger causality) to present a hypothesis that more advanced statistical approaches to EEG coherence analysis may provide more detailed and accurate information than pairwise measurements. A single case study is examined with findings from MR-DTI, pairwise and coherence and these three forms of multivariate coherence analysis. In this case pairwise coherences did not resemble structural connectivity, whereas multivariate measures did. 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PD FEB 26 PY 2014 VL 8 AR 45 DI 10.3389/fnhum.2014.00045 PG 12 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA AB9FQ UT WOS:000332096500001 PM 24616679 ER PT J AU [Anonymous] AF [Anonymous] TI More Accurate Autism Screening SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT News Item CR Robins DL, 2014, PEDIATRICS, V133, P37, DOI 10.1542/peds.2013-1813 NR 1 TC 0 Z9 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD FEB 26 PY 2014 VL 311 IS 8 BP 791 EP 791 PG 1 WC Medicine, General & Internal SC General & Internal Medicine GA AB4XQ UT WOS:000331793700010 ER PT J AU Lodhia, V Brock, J Johnson, BW Hautus, MJ AF Lodhia, Veema Brock, Jon Johnson, Blake W. Hautus, Michael J. TI Reduced object related negativity response indicates impaired auditory scene analysis in adults with autistic spectrum disorder SO PEERJ LA English DT Article DE Autism; Auditory scene analysis; Object related negativity; Event related potential; Binaural processing; Electroencephalography; ORN; P400; Dichotic pitch ID EVENT-RELATED POTENTIALS; PLANUM TEMPORALE; NEUROMAGNETIC RESPONSES; PERCEPTUAL SEGREGATION; SPATIAL LOCALIZATION; BRAIN POTENTIALS; DICHOTIC PITCH; CHILDREN; INFORMATION; INFANTS AB Auditory Scene Analysis provides a useful framework for understanding atypical auditory perception in autism. Specifically, a failure to segregate the incoming acoustic energy into distinct auditory objects might explain the aversive reaction autistic individuals have to certain auditory stimuli or environments. Previous research with non-autistic participants has demonstrated the presence of an Object Related Negativity (ORN) in the auditory event related potential that indexes pre-attentive processes associated with auditory scene analysis. Also evident is a later P400 component that is attention dependent and thought to be related to decision-making about auditory objects. We sought to determine whether there are differences between individuals with and without autism in the levels of processing indexed by these components. Electroencephalography (EEG) was used to measure brain responses from a group of 16 autistic adults, and 16 age- and verbal-IQ-matched typically-developing adults. Auditory responses were elicited using lateralized dichotic pitch stimuli in which inter-aural timing differences create the illusory perception of a pitch that is spatially separated from a carrier noise stimulus. As in previous studies, control participants produced an ORN in response to the pitch stimuli. However, this component was significantly reduced in the participants with autism. In contrast, processing differences were not observed between the groups at the attention-dependent level (P400). These findings suggest that autistic individuals have difficulty segregating auditory stimuli into distinct auditory objects, and that this difficulty arises at an early pre-attentive level of processing. C1 [Lodhia, Veema; Hautus, Michael J.] Univ Auckland, Sch Psychol, Res Ctr Cognit Neurosci, Auckland 1, New Zealand. [Brock, Jon; Johnson, Blake W.] Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia. RP Hautus, MJ (reprint author), Univ Auckland, Sch Psychol, Res Ctr Cognit Neurosci, Auckland 1, New Zealand. EM m.hautus@auckland.ac.nz FU Australian Research Council (ARC) Centre of Excellence for Cognition and its Disorders [CE110001021]; ARC Australian Research Fellowship [DP098466] FX The work of BWJ and JB was supported by the Australian Research Council (ARC) Centre of Excellence for Cognition and its Disorders (CE110001021): http://www.ccd.edu.au. JB was supported by an ARC Australian Research Fellowship (DP098466). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Propionic acid (PA) found as a metabolic product of gut bacteria has been reported to mimic/mediate the neurotoxic effects of autism. Results from animal studies may guide investigations on human populations toward identifying environmental contaminants that produce or drugs that protect from neurotoxicity. Forty-eight young male Western Albino rats were used in the present study. They were grouped into six equal groups 8 rats each. The first group received a neurotoxic dose of buffered PA (250 mg/Kg body weight/day for 3 consecutive days). The second group received only phosphate buffered saline (control group). The third and fourth groups were intoxicated with PA as described above followed by treatment with either coenzyme Q (4.5 mg/kg body weight) or melatonin (10 mg/kg body weight) for one week (therapeutically treated groups). The fifth and sixth groups were administered both compounds for one week prior to PA (protected groups). Heat shock protein70 (Hsp70), Gamma amino-butyric acid (GABA), serotonin, dopamine, oxytocin and interferon.-inducible protein 16 together with Comet DNA assay were measured in brain tissues of the six studied groups. Results: The obtained data showed that PA caused multiple signs of brain toxicity revealed in depletion of GABA, serotonin, and dopamine, are which important neurotransmitters that reflect brain function, interferon.-inducible protein 16 and oxytocin. A high significant increase in tail length, tail DNA% damage and tail moment was reported indicating the genotoxic effect of PA. Administration of melatonin or coenzyme Q showed both protective and therapeutic effects on PA-treated rats demonstrated in a remarkable amelioration of most of the measured parameters. Conclusion: In conclusion, melatonin and coenzyme Q have potential protective and restorative effects against PA-induced brain injury, confirmed by improvement in biochemical markers and DNA double strand breaks. C1 [Al-Ghamdi, Mashael; El-Ansary, Afaf] King Saud Univ, Coll Sci, Dept Biochem, Riyadh 11495, Saudi Arabia. [Al-Ayadhi, Laila; El-Ansary, Afaf] Autism Res & Treatment Ctr, Riyadh, Saudi Arabia. [Al-Ayadhi, Laila; El-Ansary, Afaf] King Saud Univ, Shaik AL Amodi Autism Res Chair, Riyadh 11495, Saudi Arabia. [Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Riyadh 11495, Saudi Arabia. [El-Ansary, Afaf] Natl Res Ctr, Therapuet Chem Dept, Cairo, Egypt. RP El-Ansary, A (reprint author), King Saud Univ, Coll Sci, Dept Biochem, POB 22452, Riyadh 11495, Saudi Arabia. EM elansary@ksu.edu.sa FU research center of the Center for Female Scientific and Medical Colleges in King Saud University; King Abdul-Aziz City for Science and Technology (KACST) FX This research project was supported by a grant from the research center of the Center for Female Scientific and Medical Colleges in King Saud University. We extend our appreciation to King Abdul-Aziz City for Science and Technology (KACST) for co-funding the work. 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Goodson, James L. TI Personality is tightly coupled to vasopressin-oxytocin neuron activity in a gregarious finch SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE LA English DT Article DE vasopressin; oxytocin; social behavior; anxiety; personality; vasotocin; mesotocin ID AUTISM SPECTRUM DISORDERS; SOCIAL-BEHAVIOR; PARAVENTRICULAR NUCLEUS; PARUS-MAJOR; CORTICOSTERONE RELEASE; MATERNAL AGGRESSION; VASOTOCIN NEURONS; STRIA TERMINALIS; SEX-DIFFERENCES; ACTH RELEASE AB Nonapeptides of the vasopressin-oxytocin family modulate social processes differentially in relation to sex, species, behavioral phenotype, and human personality. However, the mechanistic bases for these differences are not well understood, in part because multidimensional personality structures remain to be described for common laboratory animals. Based upon principal components (PC) analysis of extensive behavioral measures in social and nonsocial contexts, we now describe three complex dimensions of phenotype ("personality") for the zebra finch, a species that exhibits a human-like social organization that is based upon biparental nuclear families embedded within larger social groups. These dimensions can be characterized as Social competence/dominance, Gregariousness, and Anxiety. We further demonstrate that the phasic Fos responses of nonapeptide neurons in the paraventricular nucleus of the hypothalamus and medial bed nucleus of the stria terminalis are significantly predicted by personality, sex, social context, and their interactions. Furthermore, the behavioral PCs are each associated with a distinct suite of neural PCs that incorporate both peptide cell numbers and their phasic Fos responses, indicating that personality is reflected in complex patterns of neuromodulation arising from multiple peptide cell groups. These findings provide novel insights into the mechanisms underlying sex- and phenotype-specific modulation of behavior, and should be broadly relevant, given that vasopressin-oxytocin systems are strongly conserved across vertebrates. C1 [Kelly, Aubrey M.; Goodson, James L.] Indiana Univ, Dept Biol, Bloomington, IN 47405 USA. RP Goodson, JL (reprint author), Indiana Univ, Dept Biol, Jordan Hall,1001 East Third St, Bloomington, IN 47405 USA. EM jlgoodso@indiana.edu FU Indiana University FX We thank Sara E. Schrock for assistance with histology. This work was supported by Indiana University. 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Behav. Neurosci. PD FEB 25 PY 2014 VL 8 AR 55 DI 10.3389/fnbeh.2014.00055 PG 14 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AB5EO UT WOS:000331811900001 PM 24611041 ER PT J AU Banerjee, S Riordan, M Bhat, MA AF Banerjee, Swati Riordan, Maeveen Bhat, Manzoor A. TI Genetic aspects of autism spectrum disorders: insights from animal models SO FRONTIERS IN CELLULAR NEUROSCIENCE LA English DT Article DE autism spectrum disorder; synapse; animal models; genetics; epigenetics; environment; cell adhesion molecules; scaffolding proteins ID COPY-NUMBER VARIATION; POSTSYNAPTIC DENSITY PROTEINS; GTPASE-ACTIVATING PROTEIN; LINKED MENTAL-RETARDATION; GENOME-WIDE ASSOCIATION; CELL-ADHESION MOLECULE; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS; GAIN-OF-FUNCTION; SYNAPTIC PLASTICITY AB Autism spectrum disorders (ASDs) are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology and has a rather complex etiology. It is interesting to note that perturbations in synaptic growth, development, and stability underlie a variety of neuropsychiatric disorders, including ASD, schizophrenia, epilepsy, and intellectual disability. Biological characterization of an increasing repertoire of synaptic mutants in various model organisms indicates synaptic dysfunction as causal in the pathophysiology of ASD. Our understanding of the genes and genetic pathways that contribute toward the formation, stabilization, and maintenance of functional synapses coupled with an in-depth phenotypic analysis of the cellular and behavioral characteristics is therefore essential to unraveling the pathogenesis of these disorders. In this review, we discuss the genetic aspects of ASD emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species. We also review how fundamental research using animal models is providing key insights into the various facets of human ASD. C1 [Banerjee, Swati; Riordan, Maeveen; Bhat, Manzoor A.] Univ Texas Hlth Sci Ctr, Sch Med, Ctr Biomed Neurosci, Dept Physiol, San Antonio, TX 78229 USA. RP Banerjee, S (reprint author), Univ Texas Hlth Sci Ctr, Sch Med, Ctr Biomed Neurosci, Dept Physiol, 7703 Floyd Curl Dr, San Antonio, TX 78229 USA. EM banerjees@uthscsa.edu; bhatm@uthscsa.edu FU Simons Foundation Autism Research Initiative [SFARI-177037]; National Institutes of Health [GM063074, NS050356]; University of Texas Health Science Center, San Antonio, TX, USA FX The work in our laboratory has been generously supported by the grants from the Simons Foundation Autism Research Initiative (SFARI-177037), the National Institutes of Health (GM063074, NS050356), and the University of Texas Health Science Center, San Antonio, TX, USA. We sincerely regret that the work of many authors related to the topic could not be cited here due to space limitations. 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TI Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis SO MOLECULAR AUTISM LA English DT Article DE Fragile X syndrome; Tuberous sclerosis; Autism; Cerebellum; Blood; Gene expression; Murine model ID AUTISM SPECTRUM DISORDERS; MENTAL-RETARDATION; MOUSE MODEL; MICE; MUTATIONS; BEHAVIOR; MTOR; TRANSLATION; INDIVIDUALS; PROFILES AB Background: Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity. Methods: To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis. Results: Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1-KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of Fmr1-KO mice. In Tsc2 heterozygous (+/-) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues. Conclusions: Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of Fmr1-KO and Tsc2+/- mice mirror some, but not all, of the perturbed molecular pathways in the brain. C1 [Kong, Sek Won; Kohane, Isaac S.] Harvard Univ, Sch Med, Boston Childrens Hosp, Informat Program, Boston, MA 02115 USA. [Sahin, Mustafa; Wertz, Mary H.; Leech, Jarrett D.] Harvard Univ, Sch Med, Boston Childrens Hosp, FM Kirby Neurobiol Ctr,Dept Neurol, Boston, MA USA. [Collins, Christin D.; Kunkel, Louis M.] Harvard Univ, Sch Med, Howard Hughes Med Inst, Dept Genet,Boston Childrens Hosp, Boston, MA 02115 USA. [Krueger, Dilja; Bear, Mark F.] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Howard Hughes Med Inst, Cambridge, MA 02139 USA. [Kong, Sek Won; Campbell, Malcolm G.; Kohane, Isaac S.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA USA. RP Kohane, IS (reprint author), Harvard Univ, Sch Med, Boston Childrens Hosp, Informat Program, Boston, MA 02115 USA. EM Isaac_kohane@harvard.edu FU Simons Foundation [95117]; Nancy Lurie Marks Family Foundation; Autism Speaks; Howard Hughes Medical Institute; Autism Consortium; NIMH [R01MH085143, P50MH094267]; NICHD [P30HD018655]; Charles H. Hood Foundation; NIH [R01NS58956]; John Merck Scholars Fund; Boston Children's Hospital Translational Research Program, Manton Center for Orphan Diseases and Boston FX This work was supported by grants from Simons Foundation (95117, to L. M. K. and I. S. K.), Nancy Lurie Marks Family Foundation (to L. M. K. and I. S. K.), Autism Speaks (1968, to L. M. K.), Howard Hughes Medical Institute (L. M. K.), Autism Consortium, NIMH (R01MH085143 to L. M. K. and P50MH094267 to S. W. K. and I. S. K.), Molecular Genetics Core laboratory supported by NICHD (P30HD018655, to L. M. K.), and Charles H. Hood Foundation (S. W. K.). M. 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Golding, Jean Smith, George Davey TI Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence SO MOLECULAR AUTISM LA English DT Article DE ALSPAC; ASD; Autism; GCTA heritability; GWAS Social communication ID GENOME-WIDE ASSOCIATION; COPY-NUMBER VARIATION; AUTISTIC TRAITS; GENERAL-POPULATION; COMPLEX TRAITS; DISORDERS; ETIOLOGY; LINKAGE; GENOTYPES; VARIANTS AB Background: Social-communication abilities are heritable traits, and their impairments overlap with the autism continuum. To characterise the genetic architecture of social-communication difficulties developmentally and identify genetic links with the autistic dimension, we conducted a genome-wide screen of social-communication problems at multiple time-points during childhood and adolescence. Methods: Social-communication difficulties were ascertained at ages 8, 11, 14 and 17 years in a UK population-based birth cohort (Avon Longitudinal Study of Parents and Children; N <= 5,628) using mother-reported Social Communication Disorder Checklist scores. Genome-wide Complex Trait Analysis (GCTA) was conducted for all phenotypes. The time-points with the highest GCTA heritability were subsequently analysed for single SNP association genome-wide. Type I error in the presence of measurement relatedness and the likelihood of observing SNP signals near known autism susceptibility loci (co-location) were assessed via large-scale, genome-wide permutations. Association signals (P <= 10(-5)) were also followed up in Autism Genetic Resource Exchange pedigrees (N = 793) and the Autism Case Control cohort (N-cases/N-controls = 1,204/6,491). Results: GCTA heritability was strongest in childhood (h(2)((8 years)) = 0.24) and especially in later adolescence (h(2) ((17 years)) = 0.45), with a marked drop during early tomiddle adolescence (h(2) ((11 years))= 0.16 and h(2)((14 years)) = 0.08). Genome-wide screens at ages 8 and 17 years identified for the latter time-point evidence for association at 3p22.2 near SCN11A (rs4453791, P = 9.3x10(-9); genome-wide empirical P = 0.011) and suggestive evidence at 20p12.3 at PLCB1 (rs3761168, P = 7.9x10(-8); genome-wide empirical P = 0.085). None of these signals contributed to risk for autism. However, the co-location of population-based signals and autism susceptibility loci harbouring rare mutations, such as PLCB1, is unlikely to be due to chance (genome-wide empirical Pco-location = 0.007). Conclusions: Our findings suggest that measurable common genetic effects for social-communication C1 [St Pourcain, Beate; Timpson, Nicholas J.; Evans, David M.; Kemp, John P.; Ring, Susan M.; Smith, George Davey] Univ Bristol, Integrat Epidemiol Unit, MRC, Bristol BS8 2BN, Avon, England. [St Pourcain, Beate] Univ Bristol, Sch Oral & Dent Sci, Bristol BS1 2LY, Avon, England. [St Pourcain, Beate] Univ Bristol, Sch Expt Psychol, Bristol BS8 1TU, Avon, England. [Skuse, David H.] UCL, Inst Child Hlth, Behav Sci Unit, London WC1E 6BT, England. [Mandy, William P.] UCL, Res Dept Clin Educ & Hlth Psychol, London WC1E 6BT, England. [Wang, Kai; Hakonarson, Hakon] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA. [Wang, Kai; Hakonarson, Hakon] Perelman Sch Med, Philadelphia, PA 19104 USA. [Wang, Kai] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Los Angeles, CA 90089 USA. [Wang, Kai] Univ So Calif, Keck Sch Med, Dept Psychiat, Los Angeles, CA 90089 USA. [Evans, David M.; Kemp, John P.] Univ Queensland, Diamantina Inst, Translat Res Inst, Woolloongabba, Qld 4102, Australia. [McArdle, Wendy L.; Golding, Jean] Univ Bristol, Sch Social & Community Med, Bristol BS8 2BN, Avon, England. [Golding, Jean] Univ Bristol, Ctr Child & Adolescent Hlth, Bristol BS8 2BN, Avon, England. RP St Pourcain, B (reprint author), Univ Bristol, Integrat Epidemiol Unit, MRC, Oakfield House, Bristol BS8 2BN, Avon, England. EM Beate.StPourcain@bristol.ac.uk RI Davey Smith, George/A-7407-2013 OI Davey Smith, George/0000-0002-1407-8314 FU UK Medical Research Council; Wellcome Trust [092731, WT083431MA]; University of Bristol; Autism Speaks [7132]; Medical Research Council New Investigator Award [MRC G0800582]; National Institute of Mental Health [1U24MH081810] FX The UK Medical Research Council and the Wellcome Trust (092731) and the University of Bristol provided core support for ALSPAC, and Autism Speaks (7132) provided support for the analysis of autistic trait related data. DME is supported by a Medical Research Council New Investigator Award (MRC G0800582). JPK is funded by a Wellcome Trust 4-year PhD studentship (WT083431MA). We are extremely grateful to all the families who took part in the ALSPAC study, the midwives for their help in recruiting the families into the study and the whole ALSPAC team, which includes interviewers, computer and laboratory technicians, clerical workers, research scientists, volunteers, managers, receptionists and nurses. We thank the Sample Logistics and Genotyping Facilities at the Wellcome Trust Sanger Institute and also 23andMe for generating the ALSPAC genome-wide data. We also thank the support team of the Advanced Computing Research Centre at the University of Bristol for their assistance with the permutation analysis using high-performance computing machines. We gratefully acknowledge the resources provided by the Autism Genetic Resource Exchange (AGRE) Consortium and the participants of the AGRE and the ACC resources. 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Autism PD FEB 24 PY 2014 VL 5 AR 18 DI 10.1186/2040-2392-5-18 PG 12 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF4XI UT WOS:000334717400001 PM 24564958 ER PT J AU Uppal, N Gianatiempo, I Wicinski, B Schmeidler, J Heinsen, H Schmitz, C Buxbaum, JD Hof, PR AF Uppal, Neha Gianatiempo, Isabella Wicinski, Bridget Schmeidler, James Heinsen, Helmut Schmitz, Christoph Buxbaum, Joseph D. Hof, Patrick R. TI Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism SO MOLECULAR AUTISM LA English DT Article DE Autism; Fusiform gyrus; Neuropathology; Posteroinferior occipitotemporal gyrus; Stereology ID FUSIFORM GYRUS; SECTIONS AB Background: While most neuropathologic studies focus on regions involved in behavioral abnormalities in autism, it is also important to identify whether areas that appear functionally normal are devoid of pathologic alterations. In this study we analyzed the posteroinferior occipitotemporal gyrus, an extrastriate area not considered to be affected in autism. This area borders the fusiform gyrus, which is known to exhibit functional and cellular abnormalities in autism. Findings: No studies have implicated posteroinferior occipitotemporal gyrus dysfunction in autism, leading us to hypothesize that neuropathology would not occur in this area. We indeed observed no significant differences in pyramidal neuron number or size in layers III, V, and VI in seven pairs of autism and controls. Conclusions: These findings are consistent with the hypothesis that neuropathology is unique to areas involved in stereotypies and social and emotional behaviors, and support the specificity of the localization of pathology in the fusiform gyrus. C1 [Uppal, Neha; Gianatiempo, Isabella; Wicinski, Bridget; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, New York, NY 10029 USA. [Uppal, Neha; Gianatiempo, Isabella; Wicinski, Bridget; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA. [Uppal, Neha; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA. [Uppal, Neha; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Grad Sch Biomed Sci, New York, NY 10029 USA. [Schmeidler, James; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA. [Gianatiempo, Isabella] Fordham Univ, Dept Nat Sci, New York, NY 10023 USA. [Heinsen, Helmut] Univ Wurzburg, Dept Psychiat, Morphol Brain Res Unit, Wurzburg, Germany. [Schmitz, Christoph] Univ Munich, Dept Neuroanat, Munich, Germany. RP Hof, PR (reprint author), Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, 1 Gustave L Levy Pl,Box 1639, New York, NY 10029 USA. EM patrick.hof@mssm.edu FU Seaver Foundation; Autism Speaks; James S McDonnell Foundation; Simons Foundation FX This study was supported by the Seaver Foundation (NU, JDB), Autism Speaks (CS, PRH), the James S McDonnell Foundation (PRH), and the Simons Foundation (PRH, JDB). We thank Dr. Jane Pickett and Dr. Jerzy Wegiel for securing the precious materials used in this study. Most of all, we are deeply indebted to the patients' families, who have made this study possible. Written informed consent was obtained from the patients and their relatives for publication of this manuscript and accompanying images. In compliance with Autism Speaks policies, all data generated by this study will be available on the Autism Speaks portal. 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Autism PD FEB 24 PY 2014 VL 5 AR 17 DI 10.1186/2040-2392-5-17 PG 8 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF8KU UT WOS:000334965500001 PM 24564936 ER PT J AU Canal-Bedia, R Garcia-Primo, P Santos-Borbujo, J Bueno-Carrera, G Posada-De la Paz, M AF Canal-Bedia, Ricardo Garcia-Primo, Patricia Santos-Borbujo, Jose Bueno-Carrera, Gloria Posada-De la Paz, Manuel TI Screening and early care programmes in children with autism spectrum disorders SO REVISTA DE NEUROLOGIA LA Spanish DT Article DE Autism; Detection; Early care; Evaluation programmes; Screening; Treatment ID RANDOMIZED CONTROLLED-TRIAL; JOINT ATTENTION; YOUNG-CHILDREN; TODDLERS; INTERVENTION; INSTRUMENTS; POPULATION; PARENTS AB Introduction. The need for effective methods of detection and treatment in the early stages of autism spectrum disorders is something that is currently accepted both by professional societies and by the healthcare authorities alike. Up-to-date comprehensive information about the screening procedures and early care techniques for children with autism spectrum disorders would make it easier to implement better detection devices as well as easing the job of counselling families and professionals about care and intervention at early ages in children. Development. This study offers an updated review of the procedures for early detection and early care in autism, while reflecting the most relevant aspects that can be deduced from the experiments and studies conducted to date. Conclusions. The review carried out on trials involving the early detection of autism yields a group of important considerations to be taken into account in carry out critical analyses of screening programmes that are already under way, as well as a set of recommendations for future experiments. The review of the early care programmes provides a promising view because studies on the effectiveness of early care programmes are becoming increasingly more frequent, systematic and methodologically more appropriate. C1 [Garcia-Primo, Patricia; Posada-De la Paz, Manuel] Inst Salud Carlos III, Inst Invest Enfermedades Raras, Madrid, Spain. [Canal-Bedia, Ricardo; Santos-Borbujo, Jose; Bueno-Carrera, Gloria] Univ Salamanca, Fac Educ, Inst Univ Integrac Comunidad, E-37008 Salamanca, Spain. RP Canal-Bedia, R (reprint author), Univ Salamanca, Fac Educ, Inst Univ Integrac Comunidad, Paseo Canalejas 169, E-37008 Salamanca, Spain. 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Neurologia PD FEB 24 PY 2014 VL 58 SU 1 BP S123 EP S127 PG 5 WC Clinical Neurology SC Neurosciences & Neurology GA AD4YY UT WOS:000333259200019 PM 25252658 ER PT J AU Fernandez-Jaen, A Cigudosa, JC Fernandez-Mayoralas, DM Suela, J Fernandez-Perrone, AL Calleja-Perez, B Lopez-Martin, S AF Fernandez-Jaen, Alberto Cigudosa, Juan C. Martin Fernandez-Mayoralas, Daniel Suela, Javier Fernandez-Perrone, Ana L. Calleja-Perez, Beatriz Lopez-Martin, Sara TI Genetics applied to clinical practice in neurodevelopmental disorders SO REVISTA DE NEUROLOGIA LA Spanish DT Article DE Arrays; Attention deficit hyperactivity disorder; Autism; Genetics; Intellectual disability; Neurodevelopmental disorders ID DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; INTELLECTUAL DISABILITY; CARRIERS; TWIN AB The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional techniques (karyotype, subtelomeric analyses, etc.). The latest protocols in the biomedical field of the genetic study of these disorders cite chromosomal microarrays as the first-line analysis, while also recommending other specific studies depending on the patient's clinical features (fragile X syndrome, PTEN mutation, etc.). In the evaluation of other neurodevelopmental disorders (attention deficit hyperactivity disorder, learning disorders, etc.), the number of genetic tests carried out is limited and conditioned by the clinical characteristics or the patient's familial or personal history. Even in these situations, there are no genetic referral or evaluation protocols. C1 [Fernandez-Jaen, Alberto; Martin Fernandez-Mayoralas, Daniel; Fernandez-Perrone, Ana L.] Hosp Univ Quiron Madrid, Secc Neurol Infantil, Madrid, Spain. [Cigudosa, Juan C.; Suela, Javier] NIMGenetics, Dept Genom & Med, Madrid, Spain. [Cigudosa, Juan C.] Ctr Nacl Invest Oncol, Dept Citogenet Mol, Madrid, Spain. [Calleja-Perez, Beatriz] Ctr Salud Doctor Cirajas, Madrid, Spain. [Lopez-Martin, Sara] Univ Autonoma Madrid, Fac Psicol, Dept Psicol Biol & Salud, Madrid, Spain. RP Fernandez-Jaen, A (reprint author), Hosp Univ Quiron Madrid, Serv Neurol, Secc Neurol Infantil, Diego de Velazquez 1, E-28024 Pozuelo De Alarcon, Madrid, Spain. 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Neurologia PD FEB 24 PY 2014 VL 58 SU 1 BP S65 EP S70 PG 6 WC Clinical Neurology SC Neurosciences & Neurology GA AD4YY UT WOS:000333259200010 PM 25252670 ER PT J AU Gonzalez-Navarro, A Freire-Prudencio, S Gil, D Martos-Perez, J Jordanova, V Cerga-Pashoja, A Shishkova, A Evans, R AF Gonzalez-Navarro, Ana Freire-Prudencio, Sandra Gil, David Martos-Perez, Juan Jordanova, Vesna Cerga-Pashoja, Arlinda Shishkova, Antoneta Evans, Richard TI FIRST: a tool for facilitating reading comprehension in high-functioning autism spectrum disorder SO REVISTA DE NEUROLOGIA LA Spanish DT Article DE Autonomy; Graphic interface; High functioning autistic spectrum disorder; Language technology; Natural language processing; Reading comprehension; Social inclusion ID CHILDREN; INDIVIDUALS; LANGUAGE; ABILITY; SKILLS AB Introduction. Numerous studies have been documenting during the last decades the difficulties of reading comprehension shown by people with autism spectrum disorder (ASD), including those with preserved intelligence. These difficulties can condition their educational path and directly impact on social inclusion, autonomy and access to employment. Development. This article presents the work developed by a multidisciplinary team under the framework of a project funded by the European Union. It is an explanatory document intended to justify the needs that the population with high-functioning ASD have to access written information. The project is developing a software (Open Book) designed not only 'for' people with ASD, but 'with' people with ASD. Conclusion. Both the child population as well as the adult population of persons with ASD show difficulties in all formal components of written language. The tool needs to be flexible and facilitate it's personalized use in order to respond to the great heterogeneity of this population. C1 [Gonzalez-Navarro, Ana; Freire-Prudencio, Sandra; Gil, David; Martos-Perez, Juan] Ctr Deletrea, E-28027 Madrid, Spain. [Jordanova, Vesna] South London & Maudsley NHS Fdn Trust, London, England. [Cerga-Pashoja, Arlinda] Cent & North West London NHS Fdn Trust, London, England. [Shishkova, Antoneta] Sdruzhenie Parallel World, Plovdiv, Bulgaria. [Evans, Richard] Wolverhampton Univ, Wolverhampton WV1 1DJ, W Midlands, England. RP Martos-Perez, J (reprint author), Ctr Deletrea, Doctor Esquerdo 82, E-28027 Madrid, Spain. EM deletrea@telefonica.net CR Barnard J, 2001, IGNORED INELIGIBLE R Boetsch EA, 1996, DEV PSYCHOPATHOL, V8, P539 Brown HM, 2013, J AUTISM DEV DISORD, V43, P932, DOI 10.1007/s10803-012-1638-1 Brugha T., 2007, AUTISM SPECTRUM DISO Cox D., 2007, ORAL READING PERFORM Miniscalco C, 2010, RES DEV DISABIL, V31, P1054, DOI 10.1016/j.ridd.2010.04.004 Nation K, 2006, J AUTISM DEV DISORD, V36, P911, DOI 10.1007/s10803-006-0130-1 National Autistic Society, 2004, PLAC SOC IMP PLANN L Norbury CF, 2005, J EXP CHILD PSYCHOL, V90, P142, DOI 10.1016/j.jecp.2004.11.003 Smith Myles B., 2002, FOCUS AUTISM OTHER D, V17, P44 Volkmar F. R., 2009, PRACTICAL GUIDE AUTI Wahlberg T, 2004, DISCOURSE PROCESS, V38, P119, DOI 10.1207/s15326950dp3801_5 Walters KA, 2011, CHILD DEV APPL SETTI NR 13 TC 0 Z9 0 PU REVISTA DE NEUROLOGIA PI BARCELONA PA C/O CESAR VIGUERA, EDITOR, APDO 94121, 08080 BARCELONA, SPAIN SN 0210-0010 EI 1576-6578 J9 REV NEUROLOGIA JI Rev. Neurologia PD FEB 24 PY 2014 VL 58 SU 1 BP S129 EP S135 PG 7 WC Clinical Neurology SC Neurosciences & Neurology GA AD4YY UT WOS:000333259200020 PM 25252659 ER PT J AU Paula-Perez, I Artigas-Pallares, J AF Paula-Perez, Isabel Artigas-Pallares, Josep TI Autism in the first year SO REVISTA DE NEUROLOGIA LA Spanish DT Article DE ASD; Autism; Autistic spectrum disorder; Early detection; Early diagnosis; Early signs; Neurodevelopmental disorders; Prospective studies; Retrospective studies ID SPECTRUM DISORDER; HOME VIDEOTAPES; DEVELOPMENTAL REGRESSION; EARLY IDENTIFICATION; EARLY RECOGNITION; BABY SIBLINGS; CHILDREN; INFANTS; LIFE; RISK AB At present autism can be diagnosed with a high degree of reliability between the ages of 18 months and 2 years. Yet, the first symptoms are already present long before the diagnosis is made. This has led to a number of retrospective and prospective studies being conducted with the aim of detecting manifestations that allow a diagnosis to be reached as early as possible. The results of these studies have enabled researchers to detect symptoms that appear between the ages of 6 and 12 months. Although it has been observed that these symptoms are of limited diagnostic interest, they do provide invaluable information for the understanding of autism within the framework of neurodevelopmental disorders because they highlight a pattern of development that is initially common to several different disorders, but which progressively goes on to constitute a specific phenotype. C1 [Paula-Perez, Isabel] Univ Barcelona, Dept Metodos Invest & Diagnost Educ, MIDE, E-08035 Barcelona, Spain. [Artigas-Pallares, Josep] Hosp Sabadell, Unidad Neuropediat, Ctr Med Psyncron, Barcelona, Spain. RP Paula-Perez, I (reprint author), Univ Barcelona, Dept MIDE, Campus Mundet,Edif Llevant,2 Piso,Despacho 264, E-08035 Barcelona, Spain. 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Neurologia PD FEB 24 PY 2014 VL 58 SU 1 BP S117 EP S121 PG 5 WC Clinical Neurology SC Neurosciences & Neurology GA AD4YY UT WOS:000333259200018 PM 25252657 ER PT J AU Ruggieri, VL AF Ruggieri, Victor L. TI The amygdala and its relation to autism, behavioural disorders and other neurodevelopmental disorders SO REVISTA DE NEUROLOGIA LA Spanish DT Article DE Alexithymia; Amygdala; Anorexia nervosa; Autism; Fragile X syndrome; Prader-Willi syndrome; Rett syndrome; Williams syndrome ID PRADER-WILLI-SYNDROME; FRAGILE-X-SYNDROME; GENERALIZED ANXIETY DISORDER; SPECTRUM DISORDERS; ANOREXIA-NERVOSA; FACIAL EXPRESSIONS; SOCIAL COGNITION; BIPOLAR DISORDER; ENTORHINAL CORTEX; BRAIN ACTIVATION AB The amygdala is related with the recognition of the emotional meaning of stimuli, long-term memory, the orientation of social stimuli and the perception of gaze orientation. It plays a fundamental role in the recognition of faces, especially those expressing fear, and makes it possible to comprehend different emotional states, which will facilitate an appropriate social cognition. Dysfunctions of the amygdala have been associated to a number of different neurodevelopmental disorders as well as neurocognitive and behavioural disorders in specific neurogenetic entities. A number of studies focused on the amygdalic complex have allowed researchers to understand many pathophysiological aspects and to formulate new hypotheses regarding their origins. Given that the disorders or conditions in which the role of the amygdala has been evoked are becoming increasingly more extensive, this article refers the reader to those that have aroused the most interest in recent years. Thus, they can be divided into two groups: developmental and behavioural disorders (autism, anxiety disorders, bipolar disorder, alexithymia and anorexia nervosa) and specific neurogenetic entities (fragile X, Rett, Prader-Willi and Williams syndromes), in which structural or dysfunctional alterations have been observed that may be related with their neurocognitive and behavioural symptoms. It is important to remember that the amygdala is a highly connected structure that forms truly functional networks and has been associated to different disorders with varied explanations and includes several different pathophysiological phenomena. Its role must not, therefore, be simplified in a reductionistic manner, but also placed upon a hierarchy of dysfunctions in other areas that interact with it. C1 Hosp Pediat Prof Dr Juan P Garrahan, Serv Neurol, RA-1245 Buenos Aires, DF, Argentina. 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Neurologia PD FEB 24 PY 2014 VL 58 SU 1 BP S137 EP S148 PG 12 WC Clinical Neurology SC Neurosciences & Neurology GA AD4YY UT WOS:000333259200021 PM 25252660 ER PT J AU Hernan, AE Alexander, A Lenck-Santini, PP Scott, RC Holmes, GL AF Hernan, Amanda E. Alexander, Abigail Lenck-Santini, Pierre-Pascal Scott, Rod C. Holmes, Gregory L. TI Attention Deficit Associated with Early Life Interictal Spikes in a Rat Model Is Improved with ACTH SO PLOS ONE LA English DT Article ID CORTICOTROPIN-RELEASING HORMONE; INFANTILE SPASMS; BEHAVIOR; AMYGDALA; EPILEPSY; CHILDREN; THERAPY AB Children with epilepsy often present with pervasive cognitive and behavioral comorbidities including working memory impairments, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder. These non-seizure characteristics are severely detrimental to overall quality of life. Some of these children, particularly those with epilepsies classified as Landau-Kleffner Syndrome or continuous spike and wave during sleep, have infrequent seizure activity but frequent focal epileptiform activity. This frequent epileptiform activity is thought to be detrimental to cognitive development; however, it is also possible that these IIS events initiate pathophysiological pathways in the developing brain that may be independently associated with cognitive deficits. These hypotheses are difficult to address due to the previous lack of an appropriate animal model. To this end, we have recently developed a rat model to test the role of frequent focal epileptiform activity in the prefrontal cortex. Using microinjections of a GABA(A) antagonist (bicuculline methiodine) delivered multiple times per day from postnatal day (p) 21 to p25, we showed that rat pups experiencing frequent, focal, recurrent epileptiform activity in the form of interictal spikes during neurodevelopment have significant long-term deficits in attention and sociability that persist into adulthood. To determine if treatment with ACTH, a drug widely used to treat early-life seizures, altered outcome we administered ACTH once per day subcutaneously during the time of the induced interictal spike activity. We show a modest amelioration of the attention deficit seen in animals with a history of early life interictal spikes with ACTH, in the absence of alteration of interictal spike activity. These results suggest that pharmacological intervention that is not targeted to the interictal spike activity is worthy of future study as it may be beneficial for preventing or ameliorating adverse cognitive outcomes. C1 [Hernan, Amanda E.; Alexander, Abigail] Geisel Sch Med Dartmouth, Dept Neurol, Hanover, NH 03755 USA. [Scott, Rod C.] UCL, Inst Child Hlth, London, England. [Hernan, Amanda E.; Lenck-Santini, Pierre-Pascal; Scott, Rod C.; Holmes, Gregory L.] Univ Vermont, Coll Med, Dept Neurol Sci, Burlington, VT USA. RP Hernan, AE (reprint author), Geisel Sch Med Dartmouth, Dept Neurol, Hanover, NH 03755 USA. EM Amanda.Hernan@uvm.edu FU Questcor Pharmaceuticals through an Independent Investigator Study grant; Emmory R. Shapses Research Fund; Michael J. Pietroniro Fund [R01NS075249, R01NS076763]; Great Ormond Street Children's Charity; [1R01NS073083] FX Funding and study drug were provided by Questcor Pharmaceuticals through an Independent Investigator Study grant awarded to AEH and GLH. Questcor did not dictate or control study design, experiments or techniques described, data analyses, or manuscript preparation. Questcor Pharmaceuticals was informed prior to submission of this work for publication. This work is funded by 1R01NS073083 (awarded to GLH), Emmory R. Shapses Research Fund, and Michael J. Pietroniro Fund (GLH), R01NS075249 (RCS) and R01NS076763 (PPLS). RCS is funded by Great Ormond Street Children's Charity. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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We have used a systematic sampling technique that significantly reduces experimenter bias and variance to estimate PC densities in the postmortem brains of eight clinically well-documented individuals with autism, and eight age-and gender-matched controls. Four cerebellar regions were analyzed: a sensorimotor area comprised of hemispheric lobules IV-VI, crus I & II of the posterior lobe, and lobule X of the flocculonodular lobe. Overall PC density was thus estimated using data from all three cerebellar lobes and was found to be lower in the cases with autism as compared to controls, an effect that was most prominent in crus I and II (p < 0.05). Lobule X demonstrated a trend towards lower PC density in only the males with autism (p = 0.05). Brain weight, a correlate of tissue volume, was found to significantly contribute to the lower lobule X PC density observed in males with autism, but not to the finding of lower PC density in crus I & II. Therefore, lower crus I & II PC density in autism is more likely due to a lower number of PCs. The PC density in lobule X was found to correlate with the ADI-R measure of the patient's use of social eye contact (R 2 = 20.75, p = 0.012). These findings support the hypothesis that abnormal PC density may contribute to selected clinical features of the autism phenotype. C1 [Skefos, Jerry; Cummings, Christopher; Enzer, Katelyn; Holiday, Jarrod; Weed, Katrina; Levy, Ezra; Yuce, Tarik; Kemper, Thomas; Bauman, Margaret] Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA. RP Skefos, J (reprint author), Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA. EM skefos@gmail.com FU Autism Research Foundation FX This work was supported by The Autism Research Foundation (http://www.theautismresearchfoundation.org) and Autism Speaks File Number 1391 (http://www.autismspeaks.org). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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No lrrtm genes could be found in tunicates or lancelets, while two lrrtm genes are found in the lamprey genome, one of which is adjacent to a single ctnna homolog. Based on similar highly positive net charge of lamprey LRRTMs and the HSPG-binding LRRTM3 and LRRTM4 proteins, we speculate that the ancestral LRRTM might have bound HSPG before acquiring neurexins as binding partners. Our model suggests that lrrtm gene translocated into the large ctnna intron in early vertebrates, and that subsequent duplications resulted in three lrrtm/ctnna gene pairs present in most jawed vertebrates. However, we detected three prominent exceptions: (1) the lrrtm3/ctnna3 gene structure is absent in the ray-finned fish genomes, (2) the genomes of clawed frogs contain ctnna1 but lack the corresponding nested (lrrtm2) gene, and (3) contain lrrtm3 gene in the syntenic position but lack the corresponding host (ctnna3) gene. We identified several other protein-coding nested gene structures of which either the host or the nested gene has presumably been lost in the frog or chicken lineages. Interestingly, majority of these nested genes comprise LRR domains. C1 [Uvarov, Pavel; Airaksinen, Matti S.] Univ Helsinki, Inst Biomed, Helsinki, Finland. [Kajander, Tommi] Univ Helsinki, Inst Biotechnol, Helsinki, Finland. RP Airaksinen, MS (reprint author), Univ Helsinki, Inst Biomed, Helsinki, Finland. EM matti.airaksinen@helsinki.fi FU Academy of Finland; Sigrid Juselius Foundation FX This study was supported by grants from the Academy of Finland and the Sigrid Juselius Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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The present article will review brain connectivity results related to the DMN in the fields of social understanding of others: emotion perception, empathy, theory of mind, and morality. Most of the reviewed studies focused on healthy subjects with no neurological and psychiatric disease, but some studies on patients with autism and psychopathy will also be discussed. Common results show that the medial prefrontal cortex (MPFC) plays a key role in the social understanding of others, and the subregions of the MPFC contribute differently to this function according to their roles in different subsystems of the DMN. At the bottom, the ventral MPFC in the medial temporal lobe (MTL) subsystem and its connections with emotion regions are mainly associated with emotion engagement during social interactions. Above, the anterior MPFC (aMPFC) in the cortical midline structures (CMS) and its connections with posterior and anterior cingulate cortex contribute mostly to making self-other distinctions. At the top, the dorsal MPFC (dMPFC) in the dMPFC subsystem and its connection with the temporo-parietal junction (TPJ) are primarily related to the understanding of other's mental states. As behaviors become more complex, the related regions in frontal cortex are located higher. This reflects the transfer of information processing from automatic to cognitive processes with the increase of the complexity of social interaction. Besides the MPFC and TPJ, the connectivities of posterior cingulate cortex (PCC) also show some changes during tasks from the four social fields. These results indicate that the DMN is indispensable in the social understanding of others. C1 [Li, Wanqing; Liu, Chao] Beijing Normal Univ, McGovern Inst Brain Res, State Key Lab Cognit Neurosci, Beijing 100875, Peoples R China. [Li, Wanqing; Liu, Chao] Beijing Normal Univ, McGovern Inst Brain Res, IDG, Beijing 100875, Peoples R China. [Li, Wanqing; Liu, Chao] Beijing Normal Univ, Ctr Collaborat & Innovat Brain & Learning Sci, Beijing 100875, Peoples R China. [Mai, Xiaoqin] Renmin Univ China, Dept Psychol, Beijing 100872, Peoples R China. RP Mai, XQ (reprint author), Renmin Univ China, Dept Psychol, 59 Zhongguancun St, Beijing 100872, Peoples R China. EM maixq@ruc.edu.cn; liuchao@bnu.edu.cn FU National Basic Research Program of China [2011CB711000, 2013CB837300]; National Natural Science Foundation of China (NSFC) [31170971, 61210010, 913241020, CNLYB1212]; National Social Science Foundation [12ZD228, 13ZD155]; Ministry of Education [13YJA190007] FX We thank Dr. Zheng Li for comments and suggestions. This work was supported by grants from the National Basic Research Program of China (2011CB711000, 2013CB837300), the National Natural Science Foundation of China (NSFC) (31170971, 61210010), and the Major Project of the National Social Science Foundation (12&ZD228) to Chao Liu and grants from the Major Project of the National Social Science Foundation (13&ZD155), Humanities and social science projects supported by Ministry of Education (13YJA190007), the Major Research plan of the National Natural Science Foundation of China (913241020,CNLYB1212)to Xiaoqin Mai. 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Hum. Neurosci. PD FEB 24 PY 2014 VL 8 AR 74 DI 10.3389/fnhum.2014.00074 PG 15 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA AB9BW UT WOS:000332085100001 PM 24605094 ER PT J AU Barth, L Suetterlin, R Nenniger, M Vogt, KE AF Barth, Lydia Suetterlin, Rosmarie Nenniger, Markus Vogt, Kaspar E. TI Functional differentiation of stem cell-derived neurons from different murine backgrounds SO FRONTIERS IN CELLULAR NEUROSCIENCE LA English DT Article DE embryonic stem cells; neurons; electrophysiology; development; synaptic transmission AB Murine stem cell-derived neurons have been used to study a wide variety of neuropsychiatric diseases with a hereditary component, ranging from autism to Alzheimer's. While a significant amount of data on their molecular biology has been generated, there is little data on the physiology of these cultures. Different mouse strains show clear differences in behavioral and other neurobiologically relevant readouts. We have studied the physiology of early differentiation and network formation in neuronal cultures derived from three different mouse embryonic stem cell lines. We have found largely overlapping patterns with some significant differences in the timing of the functional milestones. Neurons from R1 showed the fastest development of intrinsic excitability, while E14Tg2a and J1 were slower. This was also reflected in an earlier appearance of synaptic activity in R1 cultures, while E14Tg2a and J1 were delayed by up to 2 days. In conclusion, stem cells from all backgrounds could be successfully differentiated into functioning neural networks with similar developmental patterns. Differences in the timing of specific milestones, suggest that control cell lines and time-points should be carefully chosen when investigating genetic alterations that lead to subtle deficits in neuronal function. 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PD FEB 20 PY 2014 VL 8 AR 49 DI 10.3389/fncel.2014.00049 PG 7 WC Neurosciences SC Neurosciences & Neurology GA AB5GU UT WOS:000331817700002 PM 24600351 ER PT J AU Cohen, IL Gardner, JM Karmel, BZ Kim, SY AF Cohen, Ira L. Gardner, Judith M. Karmel, Bernard Z. Kim, Soh-Yule TI Rating scale measures are associated with Noldus EthoVision-XT video tracking of behaviors of children on the autism spectrum SO MOLECULAR AUTISM LA English DT Article DE Autism spectrum disorders; Automated tracking; Behavioral assessment; Rating scales; Thigmotaxis; Treatment measures ID ANXIETY; INVENTORY; CHECKLIST; VALIDITY; DISORDER; MICE AB Background: Children with Autism Spectrum Disorder (ASD) show unusual social behaviors and repetitive behaviors. Some of these behaviors, e. g., time spent in an area or turning rate/direction, can be automatically tracked. Automated tracking has several advantages over subjective ratings including reliability, amount of information provided, and consistency across laboratories, and is potentially of importance for diagnosis, animal models and objective assessment of treatment efficacy. However, its validity for ASD has not been examined. In this exploratory study, we examined associations between rating scale data with automated tracking of children's movements using the Noldus EthoVision XT system; i.e., tracking not involving a human observer. Based on our observations and previous research, we predicted that time spent in the periphery of the room would be associated with autism severity and that rate and direction of turning would be associated with stereotypies. Methods: Children with and without ASD were observed in a free-play situation for 3 min before and 3 min after Autism Diagnostic Observation Scale - Generic (ADOS-G) testing. The Noldus system provided measures of the rate and direction of turning, latency to approach and time spend near the periphery or the parent. Results: Ratings of the severity of maladaptive social behaviors, stereotypies, autism severity, and arousal problems were positively correlated with increases in percent time spent in the periphery in the total sample and in the ASD subset. Adaptive social communication skills decreased with increases in the percentage of time spent in the periphery and increases in the latency to approach the parent in the ASD group. The rate and direction of turning was linked with stereotypies only in the group without ASD (the faster the rate of a turn to the left, the worse the rating). In the ASD group, there was a shift from a neutral turning bias prior to the ADOS assessment to a strong left turn bias after the ADOS assessment. In the entire sample, this left turn bias was associated with measures of autism severity. Conclusion: Results suggest that automated tracking yields valid and unbiased information for assessing children with autism. Turning bias is an interesting and unexplored measure related to autism. C1 [Cohen, Ira L.; Kim, Soh-Yule] New York State Inst Basic Res Dev Disabil, Dept Psychol, Staten Isl, NY 10314 USA. [Gardner, Judith M.; Karmel, Bernard Z.] New York State Inst Basic Res Dev Disabil, Dept Infant Dev, Staten Isl, NY 10314 USA. RP Cohen, IL (reprint author), New York State Inst Basic Res Dev Disabil, Dept Psychol, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA. EM ira.cohen@opwdd.ny.gov CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT, V4th BRACHA HS, 1995, J NEUROPSYCH CLIN N, V7, P213 Cohen I. 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Autism PD FEB 18 PY 2014 VL 5 AR 15 DI 10.1186/2040-2392-5-15 PG 16 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF8KS UT WOS:000334965300001 PM 24548743 ER PT J AU Durdiakova, J Warrier, V Banerjee-Basu, S Baron-Cohen, S Chakrabarti, B AF Durdiakova, Jaroslava Warrier, Varun Banerjee-Basu, Sharmila Baron-Cohen, Simon Chakrabarti, Bhismadev TI STX1A and Asperger syndrome: a replication study SO MOLECULAR AUTISM LA English DT Article DE Asperger syndrome; Serotonergic system; Single nucleotide polymorphism; STX1A ID SINGLE-NUCLEOTIDE POLYMORPHISMS; FUNCTIONING AUTISM; ASSOCIATION; VARIANTS; SYSTEM; AQ AB Background: Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation of serotonergic and GABAergic systems and its expression is altered in autism. Methods: In this study, the association between three single nucleotide polymorphisms (SNPs) (rs4717806, rs941298 and rs6951030) in STX1A gene and Asperger syndrome (AS) were tested in 650 controls and 479 individuals with AS, all of Caucasian ancestry. Results: rs4717806 (P = 0.00334) and rs941298 (P = 0.01741) showed a significant association with AS, replicating previous results. Both SNPs putatively alter transcription factor binding sites both directly and through other variants in high linkage disequilibrium. Conclusions: The current study confirms the role of STX1A as an important candidate gene in ASC. The exact molecular mechanisms through which STX1A contributes to the etiology remain to be elucidated. C1 [Durdiakova, Jaroslava; Warrier, Varun; Baron-Cohen, Simon; Chakrabarti, Bhismadev] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England. [Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust CPFT, CLASS Clin, Cambridge CB21 5EF, England. [Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, England. [Banerjee-Basu, Sharmila] Mindspec Inc, Fairfax, VA 22031 USA. RP Baron-Cohen, S (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, 18b Trumpington Rd, Cambridge CB2 8AH, England. EM sb205@cam.ac.uk; b.chakrabarti@reading.ac.uk FU Target Autism Genome; Autism Research Trust; MRC UK; Max Planck Institute for Psycholinguistics, Nijmegen FX This study was funded by grants to SBC by Target Autism Genome, the Autism Research Trust, the MRC UK, and the Max Planck Institute for Psycholinguistics, Nijmegen. We are grateful to Jonathan Breidbord, Allen Chan, Agnese Di Napoli, Laura Murphy, and Simon Fisher for help at various stages of the project. 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Psychol. PD FEB 18 PY 2014 VL 5 AR 106 DI 10.3389/fpsyg.2014.00106 PG 10 WC Psychology, Multidisciplinary SC Psychology GA CF2YQ UT WOS:000352414500001 PM 24600416 ER PT J AU Werling, DM Lowe, JK Luo, R Cantor, RM Geschwind, DH AF Werling, Donna M. Lowe, Jennifer K. Luo, Rui Cantor, Rita M. Geschwind, Daniel H. TI Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder SO MOLECULAR AUTISM LA English DT Article DE Male brain; Sex differences; Intermediate phenotype; Linkage analysis; Association; AGRE ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; COMMON GENETIC-VARIANTS; GENOME-WIDE; SUSCEPTIBILITY LOCI; PHYSICAL MAP; ASSOCIATION; POPULATION; REVEALS; SCREEN AB Background: Autism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood. Here, we aimed to identify familial and sex-differential risk loci in the largest available, uniformly ascertained, densely genotyped sample of multiplex ASD families from the Autism Genetics Resource Exchange (AGRE), and to compare results with earlier findings from AGRE. Methods: From a total sample of 1,008 multiplex families, we performed genome-wide, non-parametric linkage analysis in a discovery sample of 847 families, and separately on subsets of families with only male, affected children (male-only, MO) or with at least one female, affected child (female-containing, FC). Loci showing evidence for suggestive linkage (logarithm of odds >= 2.2) in this discovery sample, or in previous AGRE samples, were re-evaluated in an extension study utilizing all 1,008 available families. For regions with genome-wide significant linkage signal in the discovery stage, those families not included in the corresponding discovery sample were then evaluated for independent replication of linkage. Association testing of common single nucleotide polymorphisms (SNPs) was also performed within suggestive linkage regions. Results: We observed an independent replication of previously observed linkage at chromosome 20p13 (P < 0.01), while loci at 6q27 and 8q13.2 showed suggestive linkage in our extended sample. Suggestive sex-differential linkage was observed at 1p31.3 (MO), 8p21.2 (FC), and 8p12 (FC) in our discovery sample, and the MO signal at 1p31.3 was supported in our expanded sample. No sex-differential signals met replication criteria, and no common SNPs were significantly associated with ASD within any identified linkage regions. Conclusions: With few exceptions, analyses of subsets of families from the AGRE cohort identify different risk loci, consistent with extreme locus heterogeneity in ASD. Large samples appear to yield more consistent results, and sex-stratified analyses facilitate the identification of sex-differential risk loci, suggesting that linkage analyses in large cohorts are useful for identifying heritable risk loci. Additional work, such as targeted re-sequencing, is needed to identify the specific variants within these loci that are responsible for increasing ASD risk. C1 [Werling, Donna M.] Univ Calif Los Angeles, Interdept PhD Program Neurosci, Brain Res Inst, Los Angeles, CA 90095 USA. [Lowe, Jennifer K.; Luo, Rui; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Neurogenet Program, Los Angeles, CA 90095 USA. [Lowe, Jennifer K.; Luo, Rui; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA. [Lowe, Jennifer K.; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Semel Inst, Los Angeles, CA 90095 USA. [Lowe, Jennifer K.; Cantor, Rita M.; Geschwind, Daniel H.] Univ Calif Los Angeles, Semel Inst, Ctr Neurobehav Genet, Los Angeles, CA 90095 USA. [Luo, Rui; Cantor, Rita M.; Geschwind, Daniel H.] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA. RP Geschwind, DH (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Neurogenet Program, Los Angeles, CA 90095 USA. EM dhg@mednet.ucla.edu FU NIMH [1U24MH081810, F31MH093086]; Autism Speaks, fellowship [7436]; ACE Network grant [5R01 R01MH081754, 3P50 HD055784] FX We thank the patients and families whose participation makes this work possible, as well as Clara M Lajonchere and Ryan Butler from AGRE and Joe DeYoung from the University of California, Los Angeles, Neurosciences Genomics Core. Thanks also to Lauren Lawrence and Kun Gao for technical assistance. AGRE is a program of Autism Speaks and is supported by grant NIMH 1U24MH081810 to Clara M Lajonchere. DMW was supported by NIMH F31MH093086. RL was supported by Autism Speaks, fellowship #7436. This work was supported by ACE Network grant 5R01 R01MH081754 and ACE Center grant 3P50 HD055784 to DHG. 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Autism PD FEB 17 PY 2014 VL 5 AR 13 DI 10.1186/2040-2392-5-13 PG 16 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF4WU UT WOS:000334716000001 PM 24533643 ER PT J AU Bethlehem, RAI Baron-Cohen, S van Honk, J Auyeung, B Bos, PA AF Bethlehem, Richard A. I. Baron-Cohen, Simon van Honk, Jack Auyeung, Bonnie Bos, Peter A. TI The oxytocin paradox SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE LA English DT Editorial Material DE oxytocin; reward processing; anxiety; autism spectrum disorder; translational research; reward ID INTRANASAL OXYTOCIN; NUCLEUS-ACCUMBENS; SOCIAL-BEHAVIOR; HUMAN BRAIN; RECEPTOR EXPRESSION; MATERNAL-BEHAVIOR; HUMANS; ATTACHMENT; AUTISM; DOPAMINE C1 [Bethlehem, Richard A. I.; Baron-Cohen, Simon; Auyeung, Bonnie] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England. [Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge, England. 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Behav. Neurosci. PD FEB 17 PY 2014 VL 8 AR 48 DI 10.3389/fnbeh.2014.00048 PG 5 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AB2NC UT WOS:000331628400001 PM 24596548 ER PT J AU Frenkel-Toledo, S Bentin, S Perry, A Liebermann, DG Soroker, N AF Frenkel-Toledo, Silvi Bentin, Shlomo Perry, Anat Liebermann, Dario G. Soroker, Nachum TI Mirror-neuron system recruitment by action observation: Effects of focal brain damage on mu suppression SO NEUROIMAGE LA English DT Article DE EEG; Mu suppression; Mirror-neurons; Action observation; Stroke ID AUTISM SPECTRUM DISORDERS; EVENT-RELATED DESYNCHRONIZATION; SENSORIMOTOR EEG RHYTHMS; INFERIOR FRONTAL GYRUS; MOTOR DEFICITS; FUNCTIONAL-SIGNIFICANCE; SELECTIVE ATTENTION; CLINICAL-RELEVANCE; SOCIAL COGNITION; PREMOTOR CORTEX AB Mu suppression is the attenuation of EEG power in the alpha frequency range (8-12 Hz), recorded over the sensorimotor cortex during execution and observation of motor actions. Based on this dual characteristic mu suppression is thought to signalize activation of a human analogue of the mirror neuron system (MNS) found in macaque monkeys. However, much uncertainty remains concerning its specificity and full significance. To further explore the hypothesized relationship between mu suppression and MNS activation, we investigated how it is affected by damage to cortical regions, including areas where the MNS is thought to reside. EEG was recorded in 33 first-event stroke patients during observation of video clips showing reaching and grasping hand movements. We examined the modulation of EEG oscillations at central and occipital sites, and analyzed separately the lower (8-10 Hz) and higher (10-12 Hz) segments of the alpha/mu range. Suppression was determined relative to observation of a non-biological movement Normalized lesion data were used to investigate how damage to regions of the fronto-parietal cortex affects the pattern of suppression. The magnitude of mu suppression during action observation was significantly reduced in the affected hemisphere compared to the unaffected hemisphere. Differences between the hemispheres were significant at central (sensorimotor) sites but not at occipital (visual) sites. Total hemispheric volume loss did not correlate with mu suppression. Suppression in the lower mu range in the unaffected hemisphere (C3) correlated with lesion extent within the right inferior parietal cortex. Our lesion study supports the role of mu suppression as a marker of MNS activation, confirming previous studies in normal subjects. (C) 2013 Elsevier Inc. All rights reserved. C1 [Frenkel-Toledo, Silvi; Soroker, Nachum] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel. [Frenkel-Toledo, Silvi; Soroker, Nachum] Loewenstein Hosp & Rehabil Ctr, Dept Neurol Rehabil, IL-43100 Raanana, Israel. [Bentin, Shlomo; Perry, Anat] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel. [Bentin, Shlomo] Hebrew Univ Jerusalem, Dept Interdisciplinary Ctr Neural Computat, Jerusalem, Israel. [Liebermann, Dario G.] Tel Aviv Univ, Sackler Fac Med, Stanley Steyer Sch Hlth Profess, Dept Phys Therapy, IL-69978 Tel Aviv, Israel. RP Frenkel-Toledo, S (reprint author), Loewenstein Hosp & Rehabil Ctr, 278 Ahuza St, IL-43100 Raanana, Israel. EM silvi197@bezegint.net FU Legacy Foundation granted through the Loewenstein Rehabilitation Hospital; Rivka Necht Foundation; Stanley Steyer School of Health Professions of the Sackler Faculty of Medicine; Tel-Aviv University; Israeli Ministry of Health [3-00000-7772] FX This research project was carried out by the first author in partial fulfillment of the requirements for a PhD degree at the Sack ler Faculty of Medicine, Tel-Aviv University, under the supervision of Nachum Soroker, Dario G. Liebermann and Shlomo Bentin. This research was partially funded by the Legacy Foundation granted through the Loewenstein Rehabilitation Hospital, the Rivka Necht Foundation, the Stanley Steyer School of Health Professions of the Sack ler Faculty of Medicine, Tel-Aviv University, and the Israeli Ministry of Health no. 3-00000-7772. 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PSYCHIATRY LA English DT Review DE Animal model; autism; cytokines; infection; maternal immune activation; schizophrenia ID NEURODEVELOPMENTAL ANIMAL-MODEL; MAJOR PSYCHIATRIC-DISORDERS; HERPES-SIMPLEX-VIRUS; DOUBLE-STRANDED-RNA; ADULT SCHIZOPHRENIA; MATERNAL INFECTION; VIRAL-INFECTION; DOPAMINERGIC HYPERFUNCTION; TOXOPLASMA-GONDII; BRAIN-DEVELOPMENT AB It is increasingly appreciated that altered neuroimmune mechanisms might play a role in the development of schizophrenia and related psychotic illnesses. On the basis of human epidemiological findings, a number of translational rodent models have been established to explore the consequences of prenatal immune activation on brain and behavioral development. The currently existing models are based on maternal gestational exposure to human influenza virus, the viral mimic polyriboinosinic-polyribocytidilic acid [Poly(I:C)], the bacterial endotoxin lipopolysaccharide, the locally acting inflammatory agent turpentine, or selected inflammatory cytokines. These models are pivotal for establishing causal relationships and for identifying cellular and molecular mechanisms that affect normal brain development in the event of early-life immune exposures. An important aspect of developmental immune activation models is that they allow a multifaceted, longitudinal monitoring of the disease process as it unfolds during the course of neurodevelopment from prenatal to adult stages of life. An important recent refinement of these models is the incorporation of multiple etiologically relevant risk factors by combining prenatal immune challenges with specific genetic manipulations or additional environmental adversities. Converging findings from such recent experimental attempts suggest that prenatal infection can act as a "neurodevelopmental disease primer" that is likely relevant for a number of chronic mental illnesses. Hence, the adverse effects induced by prenatal infection might reflect an early entry into the neuropsychiatric route, but the specificity of subsequent disease or symptoms is likely to be strongly influenced by the genetic and environmental context in which the prenatal infectious process occurs. C1 Swiss Fed Inst Technol, Physiol & Behav Lab, CH-8603 Schwerzenbach, Switzerland. RP Meyer, U (reprint author), Swiss Fed Inst Technol, Physiol & Behav Lab, Schorenstr 16, CH-8603 Schwerzenbach, Switzerland. EM urs-meyer@ethz.ch FU European Union [259679]; Swiss National Science Foundation [310030_146217/1] FX UM receives support from The European Union Seventh Framework Programme (FP7/2007-2011) under Grant Agreement Number 259679 and from The Swiss National Science Foundation (Grant 310030_146217/1). 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Psychiatry PD FEB 15 PY 2014 VL 75 IS 4 BP 307 EP 315 DI 10.1016/j.biopsych.2013.07.011 PG 9 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 288WP UT WOS:000329643100010 PM 23938317 ER PT J AU Bauman, MD Iosif, AM Smith, SEP Bregere, C Amaral, DG Patterson, PH AF Bauman, Melissa D. Iosif, Ana-Maria Smith, Stephen E. P. Bregere, Catherine Amaral, David G. Patterson, Paul H. TI Activation of the Maternal Immune System During Pregnancy Alters Behavioral Development of Rhesus Monkey Offspring SO BIOLOGICAL PSYCHIATRY LA English DT Article DE Animal model; autism spectrum disorder; immune activation; macaque; nonhuman primate; poly IC; schizophrenia ID AUTISM SPECTRUM DISORDERS; MACAQUES MACACA-MULATTA; NEONATAL AMYGDALA LESIONS; SOCIAL IMPULSIVITY; VERVET MONKEYS; NEURODEVELOPMENTAL DISORDERS; PHARMACOLOGICAL CHANGES; ADULT SCHIZOPHRENIA; PRENATAL INFECTION; NONHUMAN-PRIMATES AB Background: Maternal infection during pregnancy is associated with an increased risk of schizophrenia and autism in the offspring. Supporting this correlation, experimentally activating the maternal immune system during pregnancy in rodents produces offspring with abnormal brain and behavioral development. We have developed a nonhuman primate model to bridge the gap between clinical populations and rodent models of maternal immune activation (MIA). Methods: A modified form of the viral mimic, synthetic double-stranded RNA (polyinosinic: polycytidylic acid stabilized with poly-L-lysine) was delivered to two separate groups of pregnant rhesus monkeys to induce MIA: 1) late first trimester MIA (n = 6), and 2) late second trimester MIA (n = 7). Control animals (n = 11) received saline injections at the same first or second trimester time points or were untreated. Sickness behavior, temperature, and cytokine profiles of the pregnant monkeys confirmed a strong inflammatory response to MIA. Results: Behavioral development of the offspring was studied for 24 months. Following weaning at 6 months of age, MIA offspring exhibited abnormal responses to separation from their mothers. As the animals matured, MIA offspring displayed increased repetitive behaviors and decreased affiliative vocalizations. When evaluated with unfamiliar conspecifics, first trimester MIA offspring deviated from species-typical macaque social behavior by inappropriately approaching and remaining in immediate proximity of an unfamiliar animal. Conclusions: In this rhesus monkey model, MIA yields offspring with abnormal repetitive behaviors, communication, and social interactions. These results extended the findings in rodent MIA models to more human-like behaviors resembling those in both autism and schizophrenia. C1 [Bauman, Melissa D.; Amaral, David G.] Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA. [Bauman, Melissa D.; Amaral, David G.] Univ Calif Davis, Calif Natl Primate Res Ctr, Davis, CA 95616 USA. [Bauman, Melissa D.; Amaral, David G.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA. [Iosif, Ana-Maria] Univ Calif Davis, Dept Publ Hlth Sci, Div Biostat, Sacramento, CA 95817 USA. [Smith, Stephen E. 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Psychiatry PD FEB 15 PY 2014 VL 75 IS 4 BP 332 EP 341 DI 10.1016/j.biopsych.2013.06.025 PG 10 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 288WP UT WOS:000329643100013 PM 24011823 ER PT J AU Younkin, SG Scharpf, RB Schwender, H Parker, MM Scott, AF Marazita, ML Beaty, TH Ruczinski, I AF Younkin, Samuel G. Scharpf, Robert B. Schwender, Holger Parker, Margaret M. Scott, Alan F. Marazita, Mary L. Beaty, Terri H. Ruczinski, Ingo TI A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk SO BMC GENETICS LA English DT Article DE Oral clefts; DNA copy numbers; de novo deletions; Case-parent trios ID COPY NUMBER VARIATION; CIRCULAR BINARY SEGMENTATION; AUTISM SPECTRUM DISORDER; HIDDEN MARKOV-MODELS; SNP GENOTYPING DATA; OROFACIAL CLEFTS; WOUDE SYNDROME; 7P DELETION; PALATE; LIP AB Background: Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de novo deletions defined as DNA segments missing in an oral cleft proband but present in both unaffected parents. We compare de novo deletion frequencies in children of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of European ancestry from randomly sampled trios. Results: We identified a genome-wide significant 62 kilo base (kb) non-coding region on chromosome 7p14.1 where de novo deletions occur more frequently among oral cleft cases than controls. We also observed wider de novo deletions among cleft lip and palate (CLP) cases than seen among cleft palate (CP) and cleft lip (CL) cases. Conclusions: This study presents a region where de novo deletions appear to be involved in the etiology of oral clefts, although the underlying biological mechanisms are still unknown. Larger de novo deletions are more likely to interfere with normal craniofacial development and may result in more severe clefts. Study protocol and sample DNA source can severely affect estimates of de novo deletion frequencies. Follow-up studies are needed to further validate these findings and to potentially identify additional structural variants underlying oral clefts. C1 [Younkin, Samuel G.; Ruczinski, Ingo] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21218 USA. [Scharpf, Robert B.] Johns Hopkins Sch Med, Dept Oncol, Baltimore, MD USA. [Scott, Alan F.] Univ Dusseldorf, Math Inst, Dusseldorf, Germany. [Scott, Alan F.] Johns Hopkins Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA. [Marazita, Mary L.] Univ Pittsburgh, Sch Dent Med, Pittsburgh, PA USA. RP Younkin, SG (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21218 USA. EM syounkin@jhsph.edu FU National Institute of Health [R03 DE021437, R01 DE016148]; Deutsche Forschungsgemeinschaft [SCHW 1508/3-1]; National Institute for Dental and Craniofacial Research [U01 DE018993, U01 DE018903]; National Institute of Health, National Institute of Environmental Health Sciences FX We thank the families who participated in the studies and gratefully acknowledge the invaluable assistance of clinical, field, and laboratory staff who contributed to this study, in particular the Center for Oral Health Research in Appalachia. We also gratefully acknowledge the financial support provided by the National Institute of Health grants R03 DE021437 (SGY, IR), R01 DE016148 (MLM), and Deutsche Forschungsgemeinschaft grant SCHW 1508/3-1 (HS). The consortium for GWAS genotyping and analysis was supported by the National Institute for Dental and Craniofacial Research through U01 DE018993 and U01 DE018903 (THB, MLM). The International Cleft Consortium involved many recruitment sites directed by separate investigators: Jeffrey C. Murray (University of Iowa), Rolf Terje Lie (University of Bergen), Allen Wilcox (NIEHS), Kare Christensen (University of Southern Denmark), Yah-Huei Wu-Chou (Chang Gang Memorial Hospital), Vincent Yeow (KK Women's & Children's Hosptial), Xiaoqian Ye (Wuhan University), Bing Shi (Sichaun University), Samuel Chong (National University of Singapore). Part of the original recruitment of Norwegian case-parent trios was supported by the Intramural Research Program of the National Institute of Health, National Institute of Environmental Health Sciences. 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PD FEB 14 PY 2014 VL 15 AR 24 DI 10.1186/1471-2156-15-24 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA AF3MR UT WOS:000334616900002 PM 24528994 ER PT J AU Sasaki, T Oga, T Nakagaki, K Sakai, K Sumida, K Hoshino, K Miyawaki, I Saito, K Suto, F Ichinohe, N AF Sasaki, Tetsuya Oga, Tomofumi Nakagaki, Keiko Sakai, Kazuhisa Sumida, Kayo Hoshino, Kohei Miyawaki, Izuru Saito, Koichi Suto, Fumikazu Ichinohe, Noritaka TI Developmental expression profiles of axon guidance signaling and the immune system in the marmoset cortex: Potential molecular mechanisms of pruning of dendritic spines during primate synapse formation in late infancy and prepuberty (I) SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS LA English DT Article DE Primate; Overshoot-type synapse formation; Synaptic pruning; Axon guidance signaling; Microglia; Complement ID INFLAMMATORY FACTOR-I; III PYRAMIDAL CELLS; POSTNATAL-DEVELOPMENT; NONHUMAN-PRIMATES; MESSENGER-RNA; GAMMA-RI; MICROGLIA; RECEPTORS; GROWTH; DENSITY AB The synapse number and the related dendritic spine number in the cerebral cortex of primates shows a rapid increase after birth. Depending on the brain region and species, the number of synapses reaches a peak before adulthood, and pruning takes place after this peak (overshoot-type synaptic formation). Human mental disorders, such as autism and schizophrenia, are hypothesized to be a result of either too weak or excessive pruning after the peak is reached. Thus, it is important to study the molecular mechanisms underlying overshoot-type synaptic formation, particularly the pruning phase. To examine the molecular mechanisms, we used common marmosets (Callithrix jacchus). Microarray analysis of the marmoset cortex was performed in the ventrolateral prefrontal, inferior temporal, and primary visual cortices, where changes in the number of dendritic spines have been observed. The spine number of all the brain regions above showed a peak at 3 months (3 M) after birth and gradually decreased (e.g., at 6 M and in adults). In this study, we focused on genes that showed differential expression between ages of 3 M and 6 M and on the differences whose fold change (FC) was greater than 1.2. The selected genes were subjected to canonical pathway analysis, and in this study, we describe axon guidance signaling, which had high plausibility. The results showed a large number of genes belonging to subsystems within the axon guidance signaling pathway, macrophages/immune system, glutamate system, and others. We divided the data and discussion of these results into 2 papers, and this is the first paper, which deals with the axon guidance signaling and macrophage/immune system. Other systems will be described in the next paper. Many components of subsystems within the axon guidance signaling underwent changes in gene expression from 3 M to 6 M so that the synapse/dendritic spine number would decrease at 6 M. Thus, axon guidance signaling probably contributes to the decrease in synapse/dendritic spine number at 6 M, the phenomenon that fits the overshoot-type synaptic formation in primates. Microglial activity (evaluated by quantifying AIF1 expression) and gene expression of molecules that modulate microglia, decreased at 6 M, just like the synapse/dendritic spine number. Thus, although microglial activity is believed to be related to phagocytosis of synapses/dendritic spines, microglial activity alone cannot explain how pruning was accelerated in the pruning phase. On the other hand, expression of molecules that tag synapses/dendritic spines as a target of phagocytosis by microglia (e.g., complement components) increased at 6 M, suggesting that these tagging proteins may be involved in the acceleration of pruning during the pruning phase. (C) 2014 Elsevier Inc. All rights reserved. C1 [Sasaki, Tetsuya; Oga, Tomofumi; Nakagaki, Keiko; Sakai, Kazuhisa; Suto, Fumikazu; Ichinohe, Noritaka] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, Kodaira, Tokyo 1878502, Japan. [Oga, Tomofumi] Osaka Univ, Grad Sch Frontier Biosci, Toyonaka, Osaka 5608531, Japan. [Sumida, Kayo; Saito, Koichi] Sumitomo Chem Co Ltd, Environm Hlth Sci Lab, Osaka 5548558, Japan. [Hoshino, Kohei; Miyawaki, Izuru] Dainippon Sumitomo Pharma Co Ltd, Predin Res Labs, Osaka 5540022, Japan. RP Ichinohe, N (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878502, Japan. EM nichino@ncnp.go.jp FU NCNP [23-7]; MEXT, Japan FX This work was supported by an Intramural Research Grant (Grant No. 23-7) for Neurological and Psychiatric Disorders from NCNP, and a FIRST Program, a Grant-in-Aid on Innovative Areas, "Shitsukan," "Glia Assembly," and "Synapse Neurocircuit Pathology" of MEXT, Japan. 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Schlitt, Sabine Bolte, Sven Hornero, Roberto Wibral, Michael TI Reduced predictable information in brain signals in autism spectrum disorder SO FRONTIERS IN NEUROINFORMATICS LA English DT Article DE autism spectrum disorder; information theory; active information storage; complex systems; magnetoencephalography; hippocampus; predictive coding ID GAMMA-BAND ACTIVITY; HIPPOCAMPUS; MAGNETOENCEPHALOGRAPHY; INDIVIDUALS; CHILDREN; MEG; PERCEPTION; COMPLEXITY; AMYGDALA; MEMORY AB Autism spectrum disorder (ASD) is a common developmental disorder characterized by communication difficulties and impaired social interaction. Recent results suggest altered brain dynamics as a potential cause of symptoms in ASD. Here, we aim to describe potential information-processing consequences of these alterations by measuring active information storage (AIS)-a key quantity in the theory of distributed computation in biological networks. AIS is defined as the mutual information between the past state of a process and its next measurement. It measures the amount of stored information that is used for computation of the next time step of a process. AIS is high for rich but predictable dynamics. We recorded magnetoencephalography (MEG) signals in 10 ASD patients and 14 matched control subjects in a visual task. After a beamformer source analysis, 12 task-relevant sources were obtained. For these sources, stationary baseline activity was analyzed using AIS. Our results showed a decrease of AIS values in the hippocampus of ASD patients in comparison with controls, meaning that brain signals in ASD were either less predictable, reduced in their dynamic richness or both. Our study suggests the usefulness of AIS to detect an abnormal type of dynamics in ASD. The observed changes in AIS are compatible with Bayesian theories of reduced use or precision of priors in ASD. C1 [Gomez, Carlos; Hornero, Roberto] Univ Valladolid, Biomed Engn Grp, ETS Ingn Telecomun, Valladolid, Spain. [Lizier, Joseph T.] Commonwealth Sci & Ind Res Org, Marsfield, NSW, Australia. [Schaum, Michael; Wollstadt, Patricia; Wibral, Michael] Goethe Univ Frankfurt, Brain Imaging Ctr, MEG Unit, D-602528 Frankfurt, Germany. [Grutzner, Christine] Max Planck Inst Brain Res, Dept Neurophysiol, Frankfurt, Germany. [Uhlhaas, Peter] Univ Glasgow, Inst Neurosci & Psychol, Glasgow, Lanark, Scotland. [Freitag, Christine M.; Schlitt, Sabine; Bolte, Sven] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany. RP Wibral, M (reprint author), Goethe Univ Frankfurt, Brain Imaging Ctr, MEG Unit, Heinrich Hoffmann Str 10, D-602528 Frankfurt, Germany. EM wibral@em.uni-frankfurt.de RI Lizier, Joseph/B-8093-2008; Gomez, Carlos/B-4659-2008; Hornero, Roberto/B-5398-2008 OI Lizier, Joseph/0000-0002-9910-8972; Gomez, Carlos/0000-0002-9488-0605; Hornero, Roberto/0000-0001-9915-2570 FU LOEWE Grant "Neuronale Koordination Forschungsschwerpunkt Frankfurt (NeFF)"; Ministerio de Economia y Competitividad; FEDER [TEC2011-22987] FX Michael Wibral was supported by LOEWE Grant "Neuronale Koordination Forschungsschwerpunkt Frankfurt (NeFF)." Michael Wibral thanks the Commonwealth Scientific and Industrial Research Organisation (CSIRO) for supporting a visit which contributed to this work. Carlos Gomez received a travel grant from LOEWE Grant "Neuronale Koordination Forschungsschwerpunkt Frankfurt (NeFF)." Carlos Gomez and Roberto Hornero were supported in part by the "Ministerio de Economia y Competitividad" and FEDER under project TEC2011-22987. 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Neuroinformatics PD FEB 14 PY 2014 VL 8 AR 9 DI 10.3389/fninf.2014.00009 PG 12 WC Mathematical & Computational Biology; Neurosciences SC Mathematical & Computational Biology; Neurosciences & Neurology GA AZ3CL UT WOS:000348105300001 PM 24592235 ER PT J AU Fromer, M Pocklington, AJ Kavanagh, DH Williams, HJ Dwyer, S Gormley, P Georgieva, L Rees, E Palta, P Ruderfer, DM Carrera, N Humphreys, I Johnson, JS Roussos, P Barker, DD Banks, E Milanova, V Grant, SG Hannon, E Rose, SA Chambert, K Mahajan, M Scolnick, EM Moran, JL Kirov, G Palotie, A McCarroll, SA Holmans, P Sklar, P Owen, MJ Purcell, SM O'Donovan, MC AF Fromer, Menachem Pocklington, Andrew J. Kavanagh, David H. Williams, Hywel J. Dwyer, Sarah Gormley, Padhraig Georgieva, Lyudmila Rees, Elliott Palta, Priit Ruderfer, Douglas M. Carrera, Noa Humphreys, Isla Johnson, Jessica S. Roussos, Panos Barker, Douglas D. Banks, Eric Milanova, Vihra Grant, Seth G. Hannon, Eilis Rose, Samuel A. Chambert, Kimberly Mahajan, Milind Scolnick, Edward M. Moran, Jennifer L. Kirov, George Palotie, Aarno McCarroll, Steven A. Holmans, Peter Sklar, Pamela Owen, Michael J. Purcell, Shaun M. O'Donovan, Michael C. TI De novo mutations in schizophrenia implicate synaptic networks SO NATURE LA English DT Article ID AUTISM SPECTRUM DISORDERS; COPY-NUMBER VARIANTS; INTELLECTUAL DISABILITY; DISEASE; GENE; PLASTICITY; MECHANISMS; COMPLEXITY; PATTERNS; RATES AB Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproportionally disrupt genes encoding postsynaptic proteins. Here we show that small de novo mutations, affecting one ora few nucleotides, are overrepresented among glutamatergic postsynaptic proteins comprising activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-D-aspartate receptor (NMDAR) complexes. Mutations are additionally enriched in proteins that interact with these complexes to modulate synaptic strength, namely proteins regulating actin filament dynamics and those whose messenger RNAs are targets of fragile X mental retardation protein (FMRP). Genes affected by mutations in schizophrenia overlap those mutated in autism and intellectual disability, as do mutation-enriched synaptic pathways. Aligning our findings with a parallel case-control study, we demonstrate reproducible insights into aetiological mechanisms for schizophrenia and reveal pathophysiology shared with other neurodevelopmental disorders. C1 [Fromer, Menachem; Ruderfer, Douglas M.; Johnson, Jessica S.; Roussos, Panos; Mahajan, Milind; Sklar, Pamela; Purcell, Shaun M.] Icahn Sch Med Mt Sinai, Dept Psychiat, Div Psychiat Genom, New York, NY 10029 USA. [Fromer, Menachem; Ruderfer, Douglas M.; Johnson, Jessica S.; Roussos, Panos; Mahajan, Milind; Sklar, Pamela; Purcell, Shaun M.] Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA. [Fromer, Menachem; Barker, Douglas D.; Rose, Samuel A.; Chambert, Kimberly; Scolnick, Edward M.; Moran, Jennifer L.; McCarroll, Steven A.; Purcell, Shaun M.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA. [Pocklington, Andrew J.; Kavanagh, David H.; Williams, Hywel J.; Dwyer, Sarah; Georgieva, Lyudmila; Rees, Elliott; Ruderfer, Douglas M.; Carrera, Noa; Humphreys, Isla; Hannon, Eilis; Kirov, George; Holmans, Peter; Owen, Michael J.; O'Donovan, Michael C.] Cardiff Univ, Inst Psychol Med & Clin Neurosci, Med Res Council Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales. [Gormley, Padhraig; Palta, Priit; Palotie, Aarno] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England. [Gormley, Padhraig; Banks, Eric; Palotie, Aarno; McCarroll, Steven A.] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA. [Palta, Priit] Univ Tartu, Inst Mol & Cell Biol, Dept Bioinformat, EE-51010 Tartu, Estonia. [Palta, Priit; Palotie, Aarno] Univ Helsinki, Inst Mol Med Finland FIMM, FIN-00290 Helsinki, Finland. [Milanova, Vihra] Med Univ, Dept Psychiat, Sofia 1431, Bulgaria. [Grant, Seth G.] Univ Edinburgh, Ctr Neuroregenerat, Edinburgh EH16 4SB, Midlothian, Scotland. [McCarroll, Steven A.] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA. [Sklar, Pamela] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA. [Purcell, Shaun M.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. RP Owen, MJ (reprint author), Cardiff Univ, Inst Psychol Med & Clin Neurosci, Med Res Council Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales. EM owenmj@cardiff.ac.uk RI Holmans, Peter/F-4518-2015 OI Holmans, Peter/0000-0003-0870-9412 FU Medical Research Council (MRC) Centre [G0800509, G0801418]; European Community [HEALTH-F2-2010-241909]; NIMH [2 P50 MH066392-05A1]; Friedman Brain Institute; Institute for Genomics and Multiscale Biology; National Institutes of Health [R01HG005827, R01MH099126, R01MH071681]; Fidelity Foundations; Sylvan Herman Foundation; Stanley Medical Research Institute; Wellcome Trust [WT089062, WT098051]; European Commission [261123] FX Work in Cardiff was supported by Medical Research Council (MRC) Centre (G0800509) and Program Grants (G0801418), the European Community's Seventh Framework Programme (HEALTH-F2-2010-241909 (Project EU-GEI)), and NIMH (2 P50 MH066392-05A1). Work at the Icahn School of Medicine at Mount Sinai was supported by the Friedman Brain Institute, the Institute for Genomics and Multiscale Biology (including computational resources and staff expertise provided by the Department of Scientific Computing), and National Institutes of Health grants R01HG005827 (S. M. P.), R01MH099126 (S. M. P.), and R01MH071681 (P. S.). Work at the Broad Institute was funded by Fidelity Foundations, the Sylvan Herman Foundation, philanthropic gifts from K. and E. Dauten, and the Stanley Medical Research Institute. Work at the Wellcome Trust Sanger Institute was supported by The Wellcome Trust (grant numbers WT089062 and WT098051) and also by the European Commission FP7 project gEUVADIS no. 261123 (P. P.). We would like to thank M. Daly, B. Neale and K. Samocha for discussions and providing unpublished autism data. We would also like to acknowledge M. DePristo, S. Gabriel, T. J. Fennel, K. Shakir, C. Tolonen and H. Shah for their help in generating and processing the various data sets. 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Moran, Jennifer L. Fromer, Menachem Ruderfer, Douglas Solovieff, Nadia Roussos, Panos O'Dushlaine, Colm Chambert, Kimberly Bergen, Sarah E. Kahler, Anna Duncan, Laramie Stahl, Eli Genovese, Giulio Fernandez, Esperanza Collins, Mark O. Komiyama, Noboru H. Choudhary, Jyoti S. Magnusson, Patrik K. E. Banks, Eric Shakir, Khalid Garimella, Kiran Fennell, Tim DePristo, Mark Grant, Seth G. N. Haggarty, Stephen J. Gabriel, Stacey Scolnick, Edward M. Lander, Eric S. Hultman, Christina M. Sullivan, Patrick F. McCarroll, Steven A. Sklar, Pamela TI A polygenic burden of rare disruptive mutations in schizophrenia SO NATURE LA English DT Article ID DE-NOVO MUTATIONS; INTELLECTUAL DISABILITY; MESSENGER-RNA; POSTSYNAPTIC DENSITY-95; PSYCHIATRIC-DISORDERS; ASSOCIATION ANALYSIS; SEQUENCING DATA; NMDA RECEPTOR; RISK LOCI; AUTISM AB Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium ion channel and the signalling complex formed by the activity-regulated cytoskeleton-associated scaffold protein (ARC) of the postsynaptic density, sets previously implicated by genome-wide association and copy-number variation studies. Similar to reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are enriched for case mutations. No individual gene-based test achieves significance after correction for multiple testing and we do not detect any alleles of moderately low frequency (approximately 0.5 to 1 per cent) and moderately large effect. Taken together, these data suggest that population-based exome sequencing can discover risk alleles and complements established gene-mapping paradigms in neuropsychiatric disease. C1 [Purcell, Shaun M.; Moran, Jennifer L.; Fromer, Menachem; O'Dushlaine, Colm; Chambert, Kimberly; Bergen, Sarah E.; Duncan, Laramie; Genovese, Giulio; Haggarty, Stephen J.; Scolnick, Edward M.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA. [Purcell, Shaun M.; Fromer, Menachem; Ruderfer, Douglas; Roussos, Panos; Stahl, Eli; Sklar, Pamela] Icahn Sch Med Mt Sinai, Div Psychiat Genom, Dept Psychiat, New York, NY 10029 USA. [Purcell, Shaun M.; Fromer, Menachem; Ruderfer, Douglas; Roussos, Panos; Stahl, Eli; Sklar, Pamela] Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA. [Purcell, Shaun M.; Fromer, Menachem; Solovieff, Nadia; Duncan, Laramie; Haggarty, Stephen J.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. [Purcell, Shaun M.; Duncan, Laramie; Banks, Eric; Shakir, Khalid; Garimella, Kiran; Fennell, Tim; DePristo, Mark; Gabriel, Stacey; Lander, Eric S.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Med & Populat Genet Program, Cambridge, MA 02142 USA. [Bergen, Sarah E.; Kahler, Anna; Magnusson, Patrik K. E.; Hultman, Christina M.] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden. [Fernandez, Esperanza] Katholieke Univ Leuven, Ctr Human Genet, B-3000 Louvain, Belgium. [Fernandez, Esperanza] VIB Ctr Biol Dis, B-3000 Louvain, Belgium. [Collins, Mark O.; Komiyama, Noboru H.; Choudhary, Jyoti S.] Wellcome Trust Sanger Inst, Prote Mass Spectrometry, Cambridge CB10 1SA, England. [Grant, Seth G. N.] Univ Edinburgh, Ctr Clin Brain Sci, Genes Cognit Programme, Edinburgh EH16 4SB, Midlothian, Scotland. [Grant, Seth G. N.] Univ Edinburgh, Ctr Neuroregenerat, Edinburgh EH16 4SB, Midlothian, Scotland. [Haggarty, Stephen J.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurol, Boston, MA 02114 USA. [Sullivan, Patrick F.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA. [Sullivan, Patrick F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA. [McCarroll, Steven A.] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA. [Sklar, Pamela] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA. RP Purcell, SM (reprint author), Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA. EM shaun@broadinstitute.org RI Kahler, Anna/J-2874-2012 FU National Institutes of Health (NIH)/National Institute of Mental Health (NIMH) ARRA Grand Opportunity grant [NIMH RC2 MH089905]; Sylvan Herman Foundation; Stanley Center for Psychiatric Research; Stanley Medical Research Institute; NIH/National Human Genome Research Institute (NHGRI) [U54HG003067]; NIH/NIMH [R01 MH095088, R01 MH091115, R01 MH099126, R01 MH077139, R01 MH095034, T32 MH017119]; Tau Consortium; NIH/NHGRI [R01 HG005827]; Friedman Brain Institute at Mount Sinai School of Medicine; Karolinska Institutet, Karolinska University Hospital; Swedish Research Council; ALF from Swedish County Council; Soderstrom Konigska Foundation; Netherlands Scientific Organization [NWO 645-000-003]; Wellcome Trust; Genes to Cognition Program; Medical Research Council; European Union [241995, 242498, 242167]; Institute for Genomics and Multiscale Biology FX We are grateful for the participation of all subjects contributing to this research, and to the collection team that worked to recruit them: E. Flordal-Thelander, A.-B. Holmgren, M. Hallin, M. Lundin, A.-K. Sundberg, C. Pettersson, R. Satgunanthan-Dawoud, S. Hassellund, M. Radstrom, B. Ohlander, L. Nyren and I. Kizling. We acknowledge funding support from National Institutes of Health (NIH)/National Institute of Mental Health (NIMH) ARRA Grand Opportunity grant NIMH RC2 MH089905 (S. M. P., P. S.), the Sylvan Herman Foundation, the Stanley Center for Psychiatric Research, the Stanley Medical Research Institute, NIH/National Human Genome Research Institute (NHGRI) grant U54HG003067 (E. S. L.), NIH/NIMH grant R01 MH095088 (S.J.H.), NIH/NIMH grant R01 MH091115 (S.J.H.), the Tau Consortium (S.J.H.), NIH/NIMH grant R01 MH099126 (S. M. P.), NIH/NHGRI grant R01 HG005827 (S. M. P.), NIH/NIMH grant R01 MH077139 (P. F. S.), NIH/NIMH grant R01 MH095034 (P. S.), NIH/NIMH grant T32 MH017119 (L. D.), the Friedman Brain Institute at Mount Sinai School of Medicine, the Karolinska Institutet, Karolinska University Hospital, the Swedish Research Council, an ALF grant from Swedish County Council, the Soderstrom Konigska Foundation, the Netherlands Scientific Organization (NWO 645-000-003), the Wellcome Trust, Genes to Cognition Program, The Medical Research Council and European Union projects GENCODYS no. 241995, EUROSPIN no. 242498 and SYNSYS no. 242167 (E. F., M.O.C., N.H.K., J.S.C., S.G.N.G.). Work at the Icahn School of Medicine at Mount Sinai was also supported by the Institute for Genomics and Multiscale Biology (including computational resources and staff expertise provided by the Department of Scientific Computing). The funders had no role in study design, execution, analysis or manuscript preparation. 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TI Neuron-specific regulation of class I PI3K catalytic subunits and their dysfunction in brain disorders SO FRONTIERS IN MOLECULAR NEUROSCIENCE LA English DT Review DE PI3K signaling; neuronal signal transduction; autism; epilepsy; schizophrenia ID LONG-TERM POTENTIATION; PHOSPHOINOSITIDE 3-KINASE FAMILY; AUTISM SPECTRUM DISORDERS; FRAGILE-X-SYNDROME; PHOSPHATIDYLINOSITOL 3-KINASE; SIGNALING PATHWAY; ALZHEIMERS-DISEASE; THERAPEUTIC STRATEGIES; HIPPOCAMPAL-NEURONS; INTRANASAL INSULIN AB The phosphoinositide 3-kinase (PI3K) complex plays important roles in virtually all cells of the body. The enzymatic activity of PI3K to phosphorylate phosphoinositides in the membrane is mediated by a group of catalytic and regulatory subunits. Among those, the class I catalytic subunits, p110 alpha, p110 beta, p110 gamma, and p110 delta, have recently drawn attention in the neuroscience field due to their specific dysregulation in diverse brain disorders. While in non-neuronal cells these catalytic subunits may have partially redundant functions, there is increasing evidence that in neurons their roles are more specialized, and confined to distinct receptor-dependent pathways. This review will summarize the emerging role of class I PI3K catalytic subunits in neurotransmitter-regulated neuronal signaling, and their dysfunction in a variety of neurological diseases, including fragile X syndrome, schizophrenia, and epilepsy. We will discuss recent literature describing the use of PI3K subunit-selective inhibitors to rescue brain disease-associated phenotypes in in vitro and animal models. These studies give rise to the exciting prospect that these drugs, originally designed for cancer treatment, may be repurposed as therapeutic drugs for brain disorders in the future. C1 [Gross, Christina; Bassell, Gary J.] Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA. [Gross, Christina; Bassell, Gary J.] Emory Univ, Sch Med, Ctr Translat Social Neurosci, Atlanta, GA 30322 USA. [Bassell, Gary J.] Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA. RP Gross, C (reprint author), Emory Univ, Sch Med, Dept Cell Biol, 615 Michael St, Atlanta, GA 30322 USA. EM cgross3@emory.edu; gbassel@emory.edu FU Pilot Grant from the Simons Foundation [237324]; NARSAD Distinguished Investigator Grant from the Brain and Behavior Research Foundation FX This work was supported by a Pilot Grant from the Simons Foundation (SFARI #237324 to GJB and CG) and a NARSAD Distinguished Investigator Grant from the Brain and Behavior Research Foundation (to GJB). The authors apologize to all colleagues whose work on related topics was not discussed here due to the concise format of this Mini Review. 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Using the Autism-Spectrum Quotient and a psychophysical approach in a normal population (N = 128), here we demonstrated that individual differences in autistic traits predicted direct-gaze perception for males, but not for females. Our findings suggest that direct-gaze perception may not constitute an autistic endophenotype in both sexes, and highlight the importance of sex differences when considering relationships between autistic traits and behaviors. C1 [Matsuyoshi, Daisuke; Watanabe, Katsumi] Univ Tokyo, Adv Sci & Technol Res Ctr, Meguro Ku, Tokyo 1538904, Japan. [Kuraguchi, Kana; Ashida, Hiroshi] Kyoto Univ, Grad Sch Letters, Dept Psychol, Sakyo Ku, Kyoto 6068501, Japan. [Tanaka, Yumiko; Uchida, Seina] Univ Tokyo, Coll Arts & Sci, Meguro Ku, Tokyo 1538902, Japan. RP Matsuyoshi, D (reprint author), Univ Tokyo, Adv Sci & Technol Res Ctr, Meguro Ku, 4-6-1 Komaba, Tokyo 1538904, Japan. EM matsuyoshi@fennel.rcast.u-tokyo.ac.jp FU Japan Society for the Promotion of Science [23700315, 22220003, 24300279]; CREST; Japan Science and Technology Agency FX This study was supported by grants from the Japan Society for the Promotion of Science # 23700315 to DM, # 22220003 to HA, # 24300279 to KW; and CREST, Japan Science and Technology Agency to KW. The use of the face image in Figure 1 is acknowledged by the photographed model with a written informed consent. 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Autism PD FEB 12 PY 2014 VL 5 AR 12 DI 10.1186/2040-2392-5-12 PG 3 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF4WM UT WOS:000334715200001 PM 24521089 ER PT J AU Schwarzkopf, DS Anderson, EJ de Haas, B White, SJ Rees, G AF Schwarzkopf, D. Samuel Anderson, Elaine J. de Haas, Benjamin White, Sarah J. Rees, Geraint TI Larger Extrastriate Population Receptive Fields in Autism Spectrum Disorders SO JOURNAL OF NEUROSCIENCE LA English DT Article DE autism; perceptual function; population receptive fields; retinotopy; tuning; vision ID HUMAN VISUAL-CORTEX; SURFACE-BASED ANALYSIS; CORTICAL MAGNIFICATION; FUNCTIONING AUTISM; BINOCULAR-RIVALRY; BRAIN-DEVELOPMENT; SIMPLEX-METHOD; FMRI; MAPS; SIZE AB Previous behavioral research suggests enhanced local visual processing in individuals with autism spectrum disorders (ASDs). Here we used functional MRI and population receptive field (pRF) analysis to test whether the response selectivity of human visual cortex is atypical in individuals with high-functioning ASDs compared with neurotypical, demographically matched controls. For each voxel, we fitted a pRF model to fMRI signals measured while participants viewed flickering bar stimuli traversing the visual field. In most extra-striate regions, perifoveal pRFs were larger in the ASD group than in controls. We observed no differences in V1 or V3A. Differences in the hemodynamic response function, eye movements, or increased measurement noise could not account for these results; individuals with ASDs showed stronger, more reliable responses to visual stimulation. Interestingly, pRF sizes also correlated with individual differences in autistic traits but there were no correlations with behavioral measures of visual processing. Our findings thus suggest that visual cortex in ASDs is not characterized by sharper spatial selectivity. Instead, we speculate that visual cortical function in ASDs may be characterized by extrastriate cortical hyperexcitability or differential attentional deployment. C1 [Schwarzkopf, D. Samuel; Anderson, Elaine J.; de Haas, Benjamin; White, Sarah J.; Rees, Geraint] UCL, Wellcome Trust Ctr Neuroimaging, London EC1V 9EL, England. [Schwarzkopf, D. Samuel; Anderson, Elaine J.; de Haas, Benjamin; Rees, Geraint] UCL, Inst Cognit Neurosci, London EC1V 9EL, England. [Schwarzkopf, D. Samuel] UCL, London EC1V 9EL, England. [Anderson, Elaine J.] UCL, Inst Ophthalmol, London EC1V 9EL, England. RP Schwarzkopf, DS (reprint author), UCL, 26 Bedford Way, London WC1H 0AP, England. EM s.schwarzkopf@ucl.ac.uk RI White, Sarah/C-4084-2008; Rees, Geraint/C-1493-2008 OI White, Sarah/0000-0001-6946-9155; Rees, Geraint/0000-0002-9623-7007 FU Wellcome Trust [091593/Z/10/Z/]; European Research Council FX This work was supported by the Wellcome Trust (D.S.S., E.J.A., B.d.H., G.R.) and the European Research Council (D.S.S.). The Wellcome Trust Centre for Neuroimaging is supported by core funding from the Wellcome Trust 091593/Z/10/Z/. We thank J.J.S. Finnemann for help with data collection and C.E. Robertson for discussions. 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Neurosci. PD FEB 12 PY 2014 VL 34 IS 7 BP 2713 EP 2724 DI 10.1523/JNEUROSCI.4416-13.2014 PG 12 WC Neurosciences SC Neurosciences & Neurology GA AB2HV UT WOS:000331614700032 PM 24523560 ER PT J AU Bruining, H Eijkemans, MJC Kas, MJH Curran, SR Vorstman, JAS Bolton, PF AF Bruining, Hilgo Eijkemans, Marinus J. C. Kas, Martien J. H. Curran, Sarah R. Vorstman, Jacob A. S. Bolton, Patrick F. TI Behavioral signatures related to genetic disorders in autism SO MOLECULAR AUTISM LA English DT Article ID FRAGILE-X-SYNDROME; TUBEROUS SCLEROSIS COMPLEX; PRADER-WILLI-SYNDROME; COPY-NUMBER VARIATION; SPECTRUM DISORDERS; SYNAPTIC PATHOPHYSIOLOGY; DIAGNOSTIC INTERVIEW; SOCIAL-INTERACTION; DE-NOVO; CHILDREN AB Background: Autism spectrum disorder (ASD) is well recognized to be genetically heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of indistinguishable behavioral presentations. Methods: We tested this assumption by analyzing the Autism Diagnostic Interview-Revised (ADI-R) symptom profiles in samples comprising six genetic disorders that carry an increased risk for ASD 22q11.2 deletion, Down's syndrome, Prader-Willi, supernumerary marker chromosome 15, tuberous sclerosis complex and Klinefelter syndrome; total n = 322 cases, groups ranging in sample sizes from 21 to 90 cases). We mined the data to test the existence and specificity of ADI-R profiles using a multiclass extension of support vector machine SVM) learning. We subsequently applied the SVM genetic disorder algorithm on idiopathic ASD profiles from the Autism Genetics Resource Exchange AGRE). Results: Genetic disorders were associated with behavioral specificity, indicated by the accuracy and certainty of SVM predictions; one-by-one genetic disorder stratifications were highly accurate leading to 63% accuracy of correct genotype prediction when all six genetic disorder groups were analyzed simultaneously. Application of the SVM algorithm to AGRE cases indicated that the algorithm could detect similarity of genetic behavioral signatures in idiopathic ASD subjects. Also, affected sib pairs in the AGRE were behaviorally more similar when they had been allocated to the same genetic disorder group. Conclusions: Our findings provide evidence for genotype-phenotype correlations in relation to autistic symptomatology. SVM algorithms may be used to stratify idiopathic cases of ASD according to behavioral signature patterns associated with genetic disorders. Together, the results suggest a new approach for disentangling the heterogeneity of ASD. C1 [Bruining, Hilgo; Vorstman, Jacob A. S.] Univ Med Ctr, Dept Psychiat, Brain Ctr Rudolf Magnus, NL-3508 GA Utrecht, Netherlands. [Bruining, Hilgo; Eijkemans, Marinus J. C.; Kas, Martien J. H.] Brain Ctr Rudolf Magnus, Dept Translat Neurosci, Utrecht, Netherlands. [Eijkemans, Marinus J. C.] Univ Med Ctr, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands. [Curran, Sarah R.; Bolton, Patrick F.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England. RP Bruining, H (reprint author), Univ Med Ctr, Dept Psychiat, Brain Ctr Rudolf Magnus, Postbus 85500,Heidelberglaan 100, NL-3508 GA Utrecht, Netherlands. EM h.bruining@umcutrecht.nl RI Bolton, Patrick/E-8501-2010 OI Bolton, Patrick/0000-0002-5270-6262 FU National Institute of Health Research Senior Investigator Award and the Biomedical Research Centre in Mental Health at the South London & Maudsley Hospital; UK Medical Research Council, The UK Tuberous Sclerosis Association and the US Charity Autism Speaks; Dutch Brain Foundation [(F2010(1)-20)] FX Patrick Bolton is supported by a National Institute of Health Research Senior Investigator Award and the Biomedical Research Centre in Mental Health at the South London & Maudsley Hospital. The Uk component of the research was supported by grants to Patrick Bolton from the UK Medical Research Council, The UK Tuberous Sclerosis Association and the US Charity Autism Speaks. JV is supported by a 2010 Fellowship from the Dutch Brain Foundation (F2010(1)-20). 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Autism PD FEB 11 PY 2014 VL 5 DI 10.1186/2040-2392-5-11 PG 12 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF4WE UT WOS:000334714300001 PM 24517317 ER PT J AU Kim, YR Kim, JH Kim, MJ Treasure, J AF Kim, Youl-Ri Kim, Jeong-Hyun Kim, Mi Jeong Treasure, Janet TI Differential Methylation of the Oxytocin Receptor Gene in Patients with Anorexia Nervosa: A Pilot Study SO PLOS ONE LA English DT Article ID ATRIAL-NATRIURETIC-PEPTIDE; EPIGENETIC DOWN-REGULATION; AUTISM SPECTRUM DISORDERS; MESSENGER-RNA EXPRESSION; EATING-DISORDERS; DNA METHYLATION; CHILDHOOD ABUSE; PROMOTER; FEMALES; EMPATHY AB Background and Aim: Recent studies in patients with anorexia nervosa suggest that oxytocin may be involved in the pathophysiology of anorexia nervosa. We examined whether there was evidence of variation in methylation status of the oxytocin receptor (OXTR) gene in patients with anorexia nervosa that might account for these findings. Methods: We analyzed the methylation status of the CpG sites in a region from the exon 1 to the MT2 regions of the OXTR gene in buccal cells from 15 patients and 36 healthy women using bisulfite sequencing. We further examined whether methylation status was associated with markers of illness severity or form. Results: We identified six CpG sites with significant differences in average methylation levels between the patient and control groups. Among the six differentially methylated CpG sites, five showed higher than average methylation levels in patients than those in the control group (64.9-88.8% vs. 6.6-45.0%). The methylation levels of these five CpG sites were negatively associated with body mass index (BMI). BMI, eating disorders psychopathology, and anxiety were identified in a regression analysis as factors affecting the methylation levels of these CpG sites with more variation accounted for by BMI. Conclusions: Epigenetic misregulation of the OXTR gene may be implicated in anorexia nervosa, which may either be a mechanism linking environmental adversity to risk or may be a secondary consequence of the illness. C1 [Kim, Youl-Ri] Inje Univ, Seoul Paik Hosp, Dept Psychiat, Seoul, South Korea. [Kim, Jeong-Hyun; Kim, Mi Jeong] Inje Univ, Indang Inst Mol Biol, Seoul, South Korea. [Kim, Jeong-Hyun] Inje Univ, Sch Biol Sci, Gimhae, South Korea. [Treasure, Janet] Kings Coll London, Sect Eating Disorders, Dept Psychol Med, Inst Psychiat, London, England. RP Kim, YR (reprint author), Inje Univ, Seoul Paik Hosp, Dept Psychiat, Seoul, South Korea. EM youlri.kim@paik.ac.kr FU National Research Foundation of Korea [2011-0030914]; Swiss Anorexia Nervosa Foundation; National Institute for Health Research (NIHR); Mental Health Biomedical Research Centre at South London; Maudsley NHS Foundation Trust and King's College London FX This study was supported under the framework of the International Cooperation Program managed by the National Research Foundation of Korea (2011-0030914) to YK. The Swiss Anorexia Nervosa Foundation supported the work of JT in part. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. JT received salary support from the National Institute for Health Research (NIHR), Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. 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Lu, Lu Wang, Xusheng Homayouni, Ramin Williams, Robert W. TI Functionally Enigmatic Genes: A Case Study of the Brain Ignorome SO PLOS ONE LA English DT Article ID QUANTITATIVE TRAIT LOCI; CANDIDATE GENE; INBRED MICE; EXPRESSION; PROTEIN; AUTISM; IDENTIFICATION; PLEIOTROPHIN; PUBLICATIONS; DUPLICATION AB What proportion of genes with intense and selective expression in specific tissues, cells, or systems are still almost completely uncharacterized with respect to biological function? In what ways do these functionally enigmatic genes differ from well-studied genes? To address these two questions, we devised a computational approach that defines so-called ignoromes. As proof of principle, we extracted and analyzed a large subset of genes with intense and selective expression in brain. We find that publications associated with this set are highly skewed-the top 5% of genes absorb 70% of the relevant literature. In contrast, approximately 20% of genes have essentially no neuroscience literature. Analysis of the ignorome over the past decade demonstrates that it is stubbornly persistent, and the rapid expansion of the neuroscience literature has not had the expected effect on numbers of these genes. Surprisingly, ignorome genes do not differ from well-studied genes in terms of connectivity in coexpression networks. Nor do they differ with respect to numbers of orthologs, paralogs, or protein domains. The major distinguishing characteristic between these sets of genes is date of discovery, early discovery being associated with greater research momentum-a genomic bandwagon effect. Finally we ask to what extent massive genomic, imaging, and phenotype data sets can be used to provide high-throughput functional annotation for an entire ignorome. In a majority of cases we have been able to extract and add significant information for these neglected genes. In several cases-ELMOD1, TMEM88B, and DZANK1-we have exploited sequence polymorphisms, large phenome data sets, and reverse genetic methods to evaluate the function of ignorome genes. C1 [Pandey, Ashutosh K.; Lu, Lu; Wang, Xusheng; Williams, Robert W.] Univ Tennessee, Ctr Hlth Sci, UT Ctr Integrat & Translat Genom, Memphis, TN 38163 USA. [Pandey, Ashutosh K.; Lu, Lu; Wang, Xusheng; Williams, Robert W.] Univ Tennessee, Ctr Hlth Sci, Dept Anat & Neurobiol, Memphis, TN 38163 USA. [Wang, Xusheng] St Jude Childrens Res Hosp, Memphis, TN 38105 USA. [Homayouni, Ramin] Univ Memphis, Dept Biol Sci, Bioinformat Program, Memphis, TN 38152 USA. RP Pandey, AK (reprint author), Univ Tennessee, Ctr Hlth Sci, UT Ctr Integrat & Translat Genom, Memphis, TN 38163 USA. EM apandey1@uthsc.edu FU Integrative Neuroscience Initiative on Alcoholism [U01AA016662, U01AA13499, U24AA13513, U01AA014425]; University of Memphis Bioinformatics Program; Assisi Foundation of Memphis FX This work was supported by Integrative Neuroscience Initiative on Alcoholism grants U01AA016662, U01AA13499, U24AA13513, U01AA014425 (RWW), University of Memphis Bioinformatics Program and the Assisi Foundation of Memphis (RH). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Greenwood, Tiffany Gur, Raquel Gur, Ruben Horan, William Lazzeroni, Laura C. Light, Gregory A. Millard, Steven P. Olincy, Ann Nuechterlein, Keith Seidman, Larry Siever, Larry Silverman, Jeremy Stone, William Sprock, Joyce Sugar, Catherine Swerdlow, Neal Tsuang, Ming Turetsky, Bruce Radant, Allen TI Is There an Association between Advanced Paternal Age and Endophenotype Deficit Levels in Schizophrenia? SO PLOS ONE LA English DT Article ID PARENTAL AGE; NEUROCOGNITIVE ENDOPHENOTYPES; ANTISACCADE PERFORMANCE; RISK; CONSORTIUM; GENETICS; DISORDER; AUTISM; MULTISITE; RELATIVES AB The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects' birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age-endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia. C1 [Tsuang, Debby] VA Puget Sound Hlth Care Syst, VISN Geriatr Res Educ & Clin Ctr 20, Seattle, WA 98108 USA. [Tsuang, Debby; Esterberg, Michelle; Dobie, Dorcas; Radant, Allen] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Braff, David; Light, Gregory A.] VA San Diego Healthcare Syst, VISN Mental Illness Res Educ & Clin Ctr 22, San Diego, CA USA. [Braff, David; Cadenhead, Kristin; Greenwood, Tiffany; Light, Gregory A.; Sprock, Joyce; Swerdlow, Neal; Tsuang, Ming] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA. [Calkins, Monica; Gur, Raquel; Gur, Ruben; Turetsky, Bruce] Univ Penn, Dept Psychiat, Philadelphia, PA 19104 USA. [Dobie, Dorcas; Millard, Steven P.] VA Puget Sound Hlth Care Syst, VISN Mental Illness Res Educ & Clin Ctr 20, Seattle, WA USA. [Freedman, Robert; Olincy, Ann] Univ Colorado, Hlth Sci Ctr, Dept Psychiat, Denver, CO 80262 USA. [Green, Michael F.; Horan, William; Nuechterlein, Keith; Sugar, Catherine] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Geffen Sch Med, Los Angeles, CA 90024 USA. [Green, Michael F.; Horan, William; Sugar, Catherine] VA Greater Los Angeles Hlth Care Syst, Los Angeles, CA USA. [Lazzeroni, Laura C.] Stanford Univ, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA. [Seidman, Larry; Stone, William] Harvard Univ, Beth Israel Deaconess Med Ctr, Massachusetts Mental Hlth Ctr Publ, Psychiat Div,Med Sch,Dept Psychiat, Boston, MA 02215 USA. [Siever, Larry; Silverman, Jeremy] Mt Sinai Sch Med, Dept Psychiat, New York, NY USA. [Siever, Larry; Silverman, Jeremy] James J Peters VA Med Ctr, VISN Mental Illness Res Educ & Clin Ctr 3, New York, NY USA. RP Tsuang, D (reprint author), VA Puget Sound Hlth Care Syst, VISN Geriatr Res Educ & Clin Ctr 20, Seattle, WA 98108 USA. EM dwt1@uw.edu FU Office of Research and Development Medical Research Service, Department of Veterans Affairs; NIMH [R01 MH65571, R01 MH042228, R01 MH65588, R01 MH65562, R01 MH65707, R01 MH65554, R01 MH65578, R01 MH086135, R01 MH65558] FX This material is based upon work supported (or supported in part) by the Office of Research and Development Medical Research Service, Department of Veterans Affairs. This study was supported by NIMH grants R01 MH65571, R01 MH042228, R01 MH65588, R01 MH65562, R01 MH65707, R01 MH65554, R01 MH65578, R01 MH086135, and R01 MH65558. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Chenaux, George Ho, Hsin-Yi Henry Soskis, Michael J. Dravis, Christopher Kwan, Kenneth Y. Sestan, Nenad Greenberg, Michael Eldon Henkemeyer, Mark Cowan, Christopher W. TI EphB receptor forward signaling regulates area-specific reciprocal thalamic and cortical axon pathfinding SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article ID THALAMOCORTICAL CONNECTIONS; MAMMALIAN FOREBRAIN; NEURONAL MIGRATION; OPTIC CHIASM; GUIDANCE; PROJECTIONS; MOUSE; AUTISM; CORTEX; MECHANISMS AB In early brain development, ascending thalamocortical axons (TCAs) navigate through the ventral telencephalon (VTel) to reach their target regions in the young cerebral cortex. Descending, deep-layer cortical axons subsequently target appropriate thalamic and subcortical target regions. However, precisely how and when corticothalamic axons (CTAs) identify their appropriate, reciprocal thalamic targets remains unclear. We show here that EphB1 and EphB2 receptors control proper navigation of a subset of TCA and CTA projections through the VTel. We show in vivo that EphB receptor forward signaling and the ephrinB1 ligand are required during the early navigation of L1-CAM(+) thalamic fibers in the VTel, and that the misguided thalamic fibers in EphB1/2 KO mice appear to interact with cortical subregion-specific axon populations during reciprocal cortical axon guidance. As such, our findings suggest that descending cortical axons identify specific TCA subpopulations in the dorsal VTel to coordinate reciprocal cortical-thalamic connectivity in the early developing brain. C1 [Robichaux, Michael A.; Cowan, Christopher W.] Harvard Univ, McLean Hosp, Sch Med, Dept Psychiat, Belmont, MA 02478 USA. [Robichaux, Michael A.; Chenaux, George; Cowan, Christopher W.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA. [Chenaux, George; Dravis, Christopher; Henkemeyer, Mark] Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA. [Ho, Hsin-Yi Henry; Soskis, Michael J.; Greenberg, Michael Eldon] Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA. [Kwan, Kenneth Y.; Sestan, Nenad] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA. [Kwan, Kenneth Y.; Sestan, Nenad] Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA. RP Greenberg, ME (reprint author), Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA. EM meg@hms.harvard.edu; cwcowan@mclean.harvard.edu FU Simons Foundation Autism Research Initiative [240332]; National Institutes of Health [R01 EY01820, R01 MH66332, R01 NS045500, RO1 NS054273]; National Institute on Drug Abuse Training [T32 DA07290] FX The authors wish to thank Yuhong Guo and Kevin Kelly for technical assistance. This project was supported in part by Simons Foundation Autism Research Initiative Grant 240332 (to C.W.C.); by National Institutes of Health Grants R01 EY018207 (to C.W.C.), R01 MH66332 (to M.H.), R01 NS045500 (to M.E.G.), and RO1 NS054273 (to N.S..); and by National Institute on Drug Abuse Training Grant T32 DA07290 (to M.A.R.). 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Natl. Acad. Sci. U. S. A. PD FEB 11 PY 2014 VL 111 IS 6 BP 2188 EP 2193 DI 10.1073/pnas.1324215111 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA AA3NO UT WOS:000330999600038 PM 24453220 ER PT J AU Chiocchetti, AG Haslinger, D Boesch, M Karl, T Wiemann, S Freitag, CM Poustka, F Scheibe, B Bauer, JW Hintner, H Breitenbach, M Kellermann, J Lottspeich, F Klauck, SM Breitenbach-Koller, L AF Chiocchetti, Andreas G. Haslinger, Denise Boesch, Maximilian Karl, Thomas Wiemann, Stefan Freitag, Christine M. Poustka, Fritz Scheibe, Burghardt Bauer, Johann W. Hintner, Helmut Breitenbach, Michael Kellermann, Josef Lottspeich, Friedrich Klauck, Sabine M. Breitenbach-Koller, Lore TI Protein signatures of oxidative stress response in a patient specific cell line model for autism SO MOLECULAR AUTISM LA English DT Article DE Autism spectrum disorder; RPL10; Translation; Protein expression; Redox-sensitive protein signature; Oxidative stress response; Energy metabolism ID COPY-NUMBER VARIATION; SPECTRUM DISORDERS; SACCHAROMYCES-CEREVISIAE; MITOCHONDRIAL DYSFUNCTION; BIOLOGICAL NETWORKS; EXPRESSION ANALYSES; CYTOSCAPE PLUGIN; GENE-FUNCTION; MUTATION; DAMAGE AB Background: Known genetic variants can account for 10% to 20% of all cases with autism spectrum disorders (ASD). Overlapping cellular pathomechanisms common to neurons of the central nervous system (CNS) and in tissues of peripheral organs, such as immune dysregulation, oxidative stress and dysfunctions in mitochondrial and protein synthesis metabolism, were suggested to support the wide spectrum of ASD on unifying disease phenotype. Here, we studied in patient-derived lymphoblastoid cell lines (LCLs) how an ASD-specific mutation in ribosomal protein RPL10 (RPL10[H213Q]) generates a distinct protein signature. We compared the RPL10[ H213Q] expression pattern to expression patterns derived from unrelated ASD patients without RPL10[ H213Q] mutation. In addition, a yeast rpl10 deficiency model served in a proof-of-principle study to test for alterations in protein patterns in response to oxidative stress. Methods: Protein extracts of LCLs from patients, relatives and controls, as well as diploid yeast cells hemizygous for rpl10, were subjected to two-dimensional gel electrophoresis and differentially regulated spots were identified by mass spectrometry. Subsequently, Gene Ontology database (GO)-term enrichment and network analysis was performed to map the identified proteins into cellular pathways. Results: The protein signature generated by RPL10[H213Q] is a functionally related subset of the ASD-specific protein signature, sharing redox-sensitive elements in energy-, protein- and redox- metabolism. In yeast, rpl10 deficiency generates a specific protein signature, harboring components of pathways identified in both the RPL10 [ H213Q] subjects' and the ASD patients' set. Importantly, the rpl10 deficiency signature is a subset of the signature resulting from response of wild-type yeast to oxidative stress. Conclusions: Redox-sensitive protein signatures mapping into cellular pathways with pathophysiology in ASD have been identified in both LCLs carrying the ASD-specific mutation RPL10[H213Q] and LCLs from ASD patients without this mutation. At pathway levels, this redox- sensitive protein signature has also been identified in a yeast rpl10 deficiency and an oxidative stress model. These observations point to a common molecular pathomechanism in ASD, characterized in our study by dysregulation of redox balance. Importantly, this can be triggered by the known ASD-RPL10[H213Q] mutation or by yet unknown mutations of the ASD cohort that act upstream of RPL10 in differential expression of redox-sensitive proteins. C1 [Chiocchetti, Andreas G.; Haslinger, Denise; Wiemann, Stefan; Klauck, Sabine M.] Deutsch Krebsforschungszentrum DKFZ, Div Mol Genome Anal, D-69120 Heidelberg, Germany. [Chiocchetti, Andreas G.; Haslinger, Denise; Boesch, Maximilian; Karl, Thomas; Scheibe, Burghardt; Breitenbach, Michael; Breitenbach-Koller, Lore] Salzburg Univ, Dept Cell Biol, A-5020 Salzburg, Austria. [Chiocchetti, Andreas G.; Haslinger, Denise; Freitag, Christine M.; Poustka, Fritz] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany. [Bauer, Johann W.; Hintner, Helmut] Gen Hosp Salzburg PMU, Dept Dermatol, A-5020 Salzburg, Austria. [Kellermann, Josef; Lottspeich, Friedrich] Max Planck Inst Biochem, D-82152 Martinsried, Germany. RP Klauck, SM (reprint author), Deutsch Krebsforschungszentrum DKFZ, Div Mol Genome Anal, Neuenheimer Feld 580, D-69120 Heidelberg, Germany. EM s.klauck@dkfz.de; hannelore.koller@sbg.ac.at RI Wiemann, Stefan/E-4424-2013 OI Wiemann, Stefan/0000-0003-4683-3174 FU Deutsche Forschungsgemeinschaft [Po 255/17-4]; DEBRA Austria Projekt [P_147200_09] FX We thank all the individuals and their families who have participated in research for their cooperation and the professionals for collecting data. We thank C. Wirth and S. Karolus for excellent technical assistance. This study was partially funded by grant Po 255/17-4 of the Deutsche Forschungsgemeinschaft to Fritz Poustka and grant DEBRA Austria Projekt P_147200_09 to Johann W. Bauer and Lore Breitenbach-Koller. 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TI Changes in the GRIP 1&2 scaffolding proteins in the cerebellum of the ataxic stargazer mouse SO BRAIN RESEARCH LA English DT Article DE GRIP1&2; PICK1; Cerebellum; Stargazer; Immunogold; Autism ID AUTISM SPECTRUM DISORDERS; AMPA RECEPTOR FUNCTION; HIPPOCAMPAL SYNAPTIC PLASTICITY; DOMAIN-CONTAINING PROTEIN; LONG-TERM POTENTIATION; REGULATORY PROTEINS; BINDING-PROTEIN; SELECTIVE LOSS; GRANULE CELLS; EXPRESSION AB Glutamate receptor-interacting proteins (GRIP1&2) and protein-interacting with C kinase-1 (PICK1) are synaptic scaffold proteins associated with the stabilization and recycling of synaptic GluA2-, 3- and 4c-containing alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs). PICK1-mediated phosphoryladon of GluA serine880 uncouples GRIP18z2 leading to AMPAR endocytosis, important in mediating forms of synaptic plasticity underlying learning and memory. Ataxic and epileptic stargazer mice possess a mutation in the CACNG2 gene encoding the transmembrane AMPAR-regulatory protein (TARP)-gamma 2 (stargazin). TARPs are AMPAR-auxiliary subunits required for efficient AMPAR trafficking to synapses. Stargazin is abundantly expressed in the cerebellum and its loss results in severe deficits in AMPAR trafficking to cerebellar synapses, particularly at granule cell (GC) synapses, leading to the ataxic phenotype of stargazers. However, how the stargazin mutation impacts on the expression of other AMPAR-interacting scaffold proteins is unknown. This study shows a significant increase in GRIP1&2, but not PICK1, levels in whole tissue and synapse-enriched extracts from stargazer cerebella. Post-embedding immunogold-cytochemistry electron microscopy showed GRIP1&2 levels were unchanged at mossy fiber-GC synapses in stargazers, which are silent due to virtual total absence of synaptic and extrasynaptic GluA2/3-AMPARs. These results indicate that loss of synaptic AMPARs at this excitatory synapse does not affect GRIP1&2 expression within the postsynaptic region of mossy fiber-GC synapses. Interestingly, increased GRIP and reduced GluA2-AMPARexpression also occur in cerebella of autistic patients. Further research establishing the role of elevated cerebellar GRIP1&2 in stargazers may help identify common cellular mechanisms in the comorbid disorders ataxia, epilepsy and autism leading to more effective treatment strategies. (C) 2013 Elsevier B.V. All rights reserved. C1 [Trotman, M.; Barad, Z.; Guevremont, D.; Williams, J.; Leitch, B.] Univ Otago, Dept Anat, Brain Hlth Res Ctr, Otago Sch Med Sci, Dunedin, New Zealand. RP Leitch, B (reprint author), Univ Otago, Dept Anat, Brain Hlth Res Ctr, Otago Sch Med Sci, Dunedin, New Zealand. EM beulah.leitch@anatomy.otago.ac.nz RI Leitch, Beulah/E-5269-2015 OI Leitch, Beulah/0000-0003-3520-3134 FU University of Otago Research Grant (UORG); Deans Bequest Fund; University of Otago publishing bursary FX The authors are grateful to the staff of the Otago Centre for Electron Microscopy (OCEM) for their expertise and to members of the Leitch laboratory for their assistance. This research was supported by grants from the University of Otago Research Grant (UORG) and Deans Bequest Fund, awarded to B.L. Manuscript preparation was supported by a University of Otago publishing bursary awarded to M.T. 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PD FEB 10 PY 2014 VL 1546 BP 53 EP 62 DI 10.1016/j.brainres.2013.12.027 PG 10 WC Neurosciences SC Neurosciences & Neurology GA AB4TF UT WOS:000331782100007 PM 24380676 ER PT J AU Choi, J Ababon, MR Soliman, M Lin, Y Brzustowicz, LM Matteson, PG Millonig, JH AF Choi, Jiyeon Ababon, Myka R. Soliman, Mai Lin, Yong Brzustowicz, Linda M. Matteson, Paul G. Millonig, James H. TI Autism Associated Gene, ENGRAILED2, and Flanking Gene Levels Are Altered in Post-Mortem Cerebellum SO PLOS ONE LA English DT Article ID HOMEOBOX-TRANSCRIPTION-FACTOR; SPECTRUM-DISORDER; SONIC HEDGEHOG; NORADRENERGIC NEURONS; SEROTONERGIC NEURONS; INFANTILE-AUTISM; BLOOD SEROTONIN; PURKINJE-CELLS; RETINAL AXONS; EXPRESSION AB Background: Previous genetic studies demonstrated association between the transcription factor ENGRAILED2 (EN2) and Autism Spectrum Disorder (ASD). Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression. EN2 is flanked by 5 genes, SEROTONIN RECEPTOR5A (HTR5A), INSULIN INDUCED GENE1 (INSIG1), CANOPY1 HOMOLOG (CNPY1), RNA BINDING MOTIF PROTEIN33 (RBM33), and SONIC HEDGEHOG (SHH). These flanking genes are co-expressed with EN2 during development and coordinate similar developmental processes. To investigate if mRNA levels for these genes are altered in individuals with autism, post-mortem analysis was performed. Methods: qRT-PCR quantified mRNA levels for EN2 and the 5 flanking genes in 78 post-mortem cerebellar samples. mRNA levels were correlated with both affection status and rs1861972-rs1861973 genotype. Molecular analysis investigated whether EN2 regulates flanking gene expression. Results: EN2 levels are increased in affected A-C/G-T individuals (p =.0077). Affected individuals also display a significant increase in SHH and a decrease in INSIG1 levels. Rs1861972-rs1861973 genotype is correlated with significant increases for SHH (A-C/G-T) and CNPY1 (G-T/G-T) levels. Human cell line over-expression and knock-down as well as mouse knock-out analysis are consistent with EN2 and SHH being co-regulated, which provides a possible mechanism for increased SHH postmortem levels. Conclusions: EN2 levels are increased in affected individuals with an A-C/G-T genotype, supporting EN2 as an ASD susceptibility gene. SHH, CNPY1, and INSIG1 levels are also significantly altered depending upon affection status or rs1861972-rs1861973 genotype. Increased EN2 levels likely contribute to elevated SHH expression observed in the postmortem samples C1 [Choi, Jiyeon; Ababon, Myka R.; Soliman, Mai; Matteson, Paul G.; Millonig, James H.] Rutgers State Univ, Ctr Adv Biotechnol & Med, Piscataway, NJ 08854 USA. [Lin, Yong] Canc Inst New Jersey, Piscataway, NJ USA. [Millonig, James H.] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Neurosci & Cell Biol, Piscataway, NJ 08854 USA. [Brzustowicz, Linda M.; Millonig, James H.] Rutgers State Univ, Dept Genet, Piscataway, NJ USA. RP Millonig, JH (reprint author), Rutgers State Univ, Ctr Adv Biotechnol & Med, Piscataway, NJ 08854 USA. EM Millonig@CABM.rutgers.edu FU National Institutes of Health [R01 MH076624, R01 MH076435, RC1 MH088288]; New Jersey Governor's Council on Autism Research; National Alliance for Autism Research; Autism Speaks; National Alliance for Research on Schizophrenia and Depression Young Investigator Award FX This work was supported by National Institutes of Health (R01 MH076624), New Jersey Governor's Council on Autism Research, National Alliance for Autism Research, Autism Speaks, and National Alliance for Research on Schizophrenia and Depression Young Investigator Award to JHM; National Institutes of Health (R01 MH076435, RC1 MH088288) to LMB. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Bender, Stephan TI Visual Processing of Biological Motion in Children and Adolescents with Attention-Deficit/Hyperactivity Disorder: An Event Related Potential-Study SO PLOS ONE LA English DT Article ID DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; SUPERIOR TEMPORAL SULCUS; HIGH-FUNCTIONING AUTISM; EVOKED-POTENTIALS; DEVELOPMENTAL-CHANGES; ASPERGER SYNDROME; SOCIAL COGNITION; TIME-COURSE; PERCEPTION AB Attention-deficit/hyperactivity disorder (ADHD) is often accompanied by problems in social behaviour, which are sometimes similar to some symptoms of autism-spectrum disorders (ASD). However, neuronal mechanisms of ASD-like deficits in ADHD have rarely been studied. The processing of biological motion-recently discussed as a marker of social cognition-was found to be disrupted in ASD in several studies. Thus in the present study we tested if biological motion processing is disrupted in ADHD. We used 64-channel EEG and spatio-temporal source analysis to assess event-related potentials associated with human motion processing in 21 children and adolescents with ADHD and 21 matched typically developing controls. On the behavioural level, all subjects were able to differentiate between human and scrambled motion. But in response to both scrambled and biological motion, the N200 amplitude was decreased in subjects with ADHD. After a spatio-temporal dipole analysis, a human motion specific activation was observable in occipital-temporal regions with a reduced and more diffuse activation in ADHD subjects. These results point towards neuronal determined alterations in the processing of biological motion in ADHD. C1 [Kroeger, Anne; Hof, Katharina; Siniatchkin, Michael; Jarczok, Tomasz; Freitag, Christine M.; Bender, Stephan] Goethe Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Frankfurt, Germany. [Krick, Christoph] Saarland Univ Hosp, Dept Neuroradiol, Homburg, Germany. RP Kroger, A (reprint author), Goethe Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Frankfurt, Germany. EM Anne.Kroeger@kgu.de FU foundation of Marie Christine Held and Erika Hecker; German Research foundation "Deutsche Forschungsgemeinschaft'' [FR2069/2-1]; LOEWE-Program "Neuronal Coordination Research Focus Frankfurt'' (NeFF) FX There were no industrial funders. This work was supported by the foundation of Marie Christine Held and Erika Hecker to AK, the German Research foundation "Deutsche Forschungsgemeinschaft'' to CMF (FR2069/2-1), and by the LOEWE-Program "Neuronal Coordination Research Focus Frankfurt'' (NeFF) to CMF and SB. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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A screening instrument should consist of only a few items and have good accuracy in classifying cases and non-cases. Variable/item selection methods such as Least Absolute Shrinkage and Selection Operator (LASSO), Elastic Net, Classification and Regression Tree, Random Forest, and the two-sample t-test can be used in such context. Unlike situations where variable selection methods are most commonly applied (e.g., ultra high-dimensional genetic or imaging data), psychiatric data usually have lower dimensions and are characterized by the following factors: correlations and possible interactions among predictors, unobservability of important variables (i.e., true variables not measured by available questionnaires), amount and pattern of missing values in the predictors, and prevalence of cases in the training data. We investigate how these factors affect the performance of several variable selection methods and compare them with respect to selection performance and prediction error rate via simulations. Our results demonstrated that: (1) for complete data, LASSO and Elastic Net outperformed other methods with respect to variable selection and future data prediction, and (2) for certain types of incomplete data, Random Forest induced bias in imputation, leading to incorrect ranking of variable importance. We propose the Imputed-LASSO combining Random Forest imputation and LASSO; this approach offsets the bias in Random Forest and offers a simple yet efficient item selection approach for missing data. As an illustration, we apply the methods to items from the standard Autism Diagnostic Interview-Revised version. Copyright (c) 2013 John Wiley & Sons, Ltd. C1 [Lu, Feihan] Columbia Univ, Dept Stat, New York, NY 10027 USA. [Petkova, Eva] NYU, Dept Child & Adolescent Psychiat, New York, NY 10016 USA. [Petkova, Eva] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA. RP Lu, FH (reprint author), Room 1005 SSW,MC 4690,1255 Amsterdam Ave, New York, NY 10027 USA. EM fl2238@columbia.edu FU NIH [1R01MH089390, 1RC1MH089721] FX We thank the reviewers and the associate editor for their thoughtful and constructive critiques, which helped us improve this manuscript. The authors also thank Philip Reiss, Lei Huang, Jing Wang, Wenfei Zhang, and Thaddeus Tarpey for many helpful discussions. Finally, we thank Drs. Cathering Lord, Somer Bishop, Marisela Huerta, and Vanessa Hus for providing insights about the substantive research area. NIH grants 1R01MH089390 and 1RC1MH089721 in part funded this research. 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Med. PD FEB 10 PY 2014 VL 33 IS 3 BP 401 EP 421 DI 10.1002/sim.5937 PG 21 WC Mathematical & Computational Biology; Public, Environmental & Occupational Health; Medical Informatics; Medicine, Research & Experimental; Statistics & Probability SC Mathematical & Computational Biology; Public, Environmental & Occupational Health; Medical Informatics; Research & Experimental Medicine; Mathematics GA 284WO UT WOS:000329352600004 PM 23934941 ER PT J AU Rossman, IT Lin, LL Morgan, KM DiGiovine, M Van Buskirk, EK Kamdar, S Millonig, JH DiCicco-Bloom, E AF Rossman, Ian T. Lin, Lulu Morgan, Katherine M. DiGiovine, Marissa Van Buskirk, Elise K. Kamdar, Silky Millonig, James H. DiCicco-Bloom, Emanuel TI Engrailed2 modulates cerebellar granule neuron precursor proliferation, differentiation and insulin-like growth factor 1 signaling during postnatal development SO MOLECULAR AUTISM LA English DT Article DE Autism; Engrailed2; IGF1; Cerebellum; Neurodevelopment; Cell cycle; Proliferation; Phospho-S6 kinase ID CYCLASE-ACTIVATING POLYPEPTIDE; AUTISM-SPECTRUM-DISORDER; HOMEOBOX-TRANSCRIPTION-FACTOR; INITIATION-FACTOR 4E; BLOOD-BRAIN-BARRIER; I IGF-I; CELL-PROLIFERATION; MOUSE CEREBELLUM; PURKINJE-CELLS; MUTANT MICE AB Background: The homeobox transcription factor Engrailed2 (En2) has been studied extensively in neurodevelopment, particularly in the midbrain/hindbrain region and cerebellum, where it exhibits dynamic patterns of expression and regulates cell patterning and morphogenesis. Because of its roles in regulating cerebellar development and evidence of cerebellar pathology in autism spectrum disorder (ASD), we previously examined an ENGRAILED2 association and found evidence to support EN2 as a susceptibility gene, a finding replicated by several other investigators. However, its functions at the cell biological level remain undefined. In the mouse, En2 gene is expressed in granule neuron precursors (GNPs) just as they exit the cell cycle and begin to differentiate, raising the possibility that En2 may modulate these developmental processes. Methods: To define En2 functions, we examined proliferation, differentiation and signaling pathway activation in En2 knockout (KO) and wild-type (WT) GNPs in response to a variety of extracellular growth factors and following En2 cDNA overexpression in cell culture. In vivo analyses of cerebellar GNP proliferation as well as responses to insulin-like growth factor-1 (IGF1) treatment were also conducted. Results: Proliferation markers were increased in KO GNPs in vivo and in 24-h cultures, suggesting En2 normally serves to promote cell cycle exit. Significantly, IGF1 stimulated greater DNA synthesis in KO than WT cells in culture, a finding associated with markedly increased phospho-S6 kinase activation. Similarly, there was three-fold greater DNA synthesis in the KO cerebellum in response to IGF1 in vivo. On the other hand, KO GNPs exhibited reduced neurite outgrowth and differentiation. Conversely, En2 overexpression increased cell cycle exit and promoted neuronal differentiation. Conclusions: In aggregate, our observations suggest that the ASD-associated gene En2 promotes GNP cell cycle exit and differentiation, and modulates IGF1 activity during postnatal cerebellar development. Thus, genetic/epigenetic alterations of EN2 expression may impact proliferation, differentiation and IGF1 signaling as possible mechanisms that may contribute to ASD pathogenesis. C1 [Rossman, Ian T.; Lin, Lulu; Morgan, Katherine M.; DiGiovine, Marissa; Van Buskirk, Elise K.; Kamdar, Silky; Millonig, James H.; DiCicco-Bloom, Emanuel] Rutgers State Univ, Robert Wood Johnson Med Sch, Dept Neurosci & Cell Biol, Piscataway, NJ 08854 USA. [Rossman, Ian T.; DiCicco-Bloom, Emanuel] Rutgers State Univ, Robert Wood Johnson Med Sch, Dept Pediat Child Neurol & Neurodev Disabil, New Brunswick, NJ 08901 USA. [Rossman, Ian T.] Cleveland Clin, Ctr Pediat Neurol & Neurosurg, Cleveland, OH 44195 USA. [Morgan, Katherine M.] Rutgers State Univ, Robert Wood Johnson Med Sch, Canc Inst New Jersey, Dept Med, New Brunswick, NJ 08903 USA. [DiGiovine, Marissa] Childrens Hosp Philadelphia, Dept Neurol, Philadelphia, PA 19104 USA. [Van Buskirk, Elise K.] Duke Univ, Dept Biol, Durham, NC 27708 USA. [Millonig, James H.] Rutgers State Univ, Ctr Adv Biotechnol & Med, Piscataway, NJ 08854 USA. RP DiCicco-Bloom, E (reprint author), Rutgers State Univ, Robert Wood Johnson Med Sch, Dept Neurosci & Cell Biol, 675 Hoes, Piscataway, NJ 08854 USA. EM diciccem@rwjms.rutgers.edu FU New Jersey Governor's Council for Medical Research and Treatment of Autism; NIH [MH076624, MH070366, ES11256/USEPA, R82939101]; NINDS [NS048649-01] FX We would like to thank Xiaofeng Zhou for her invaluable contributions to the execution of these experiments. We greatly appreciate the critical reviews and suggestions of Drs. Karl Herrup and Carol Mason throughout these studies. This research was supported by New Jersey Governor's Council for Medical Research and Treatment of Autism (E.D.-B., J.H.M.); NIH MH076624 (J.H.M., E.D.-B.); NIH MH070366 (J.H.M.,E.D.-B.); NIH ES11256/USEPA R82939101 (E.D.- B.); NINDS NS048649-01 (I.R.,E.D.- B.). 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Autism PD FEB 7 PY 2014 VL 5 AR 9 DI 10.1186/2040-2392-5-9 PG 18 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF4VK UT WOS:000334712200001 PM 24507165 ER PT J AU Satten, GA Allen, AS Ikeda, M Mulle, JG Warren, ST AF Satten, Glen A. Allen, Andrew S. Ikeda, Morna Mulle, Jennifer G. Warren, Stephen T. TI Robust Regression Analysis of Copy Number Variation Data based on a Univariate Score SO PLOS ONE LA English DT Article ID ARRAY CGH DATA; HIGH-RISK; SCHIZOPHRENIA; SEGMENTATION; AUTISM; MODEL AB Motivation: The discovery that copy number variants (CNVs) are widespread in the human genome has motivated development of numerous algorithms that attempt to detect CNVs from intensity data. However, all approaches are plagued by high false discovery rates. Further, because CNVs are characterized by two dimensions (length and intensity) it is unclear how to order called CNVs to prioritize experimental validation. Results: We developed a univariate score that correlates with the likelihood that a CNV is true. This score can be used to order CNV calls in such a way that calls having larger scores are more likely to overlap a true CNV. We developed cnv.beast, a computationally efficient algorithm for calling CNVs that uses robust backward elimination regression to keep CNV calls with scores that exceed a user-defined threshold. Using an independent dataset that was measured using a different platform, we validated our score and showed that our approach performed better than six other currently-available methods. Availability: cnv.beast is available at http://www.duke.edu/similar to asallen/Software.html. C1 [Satten, Glen A.] Ctr Dis Control & Prevent, Div Reprod Hlth, Atlanta, GA 30329 USA. [Allen, Andrew S.] Duke Univ, Dept Biostat & Bioinformat, Durham, NC USA. [Allen, Andrew S.] Duke Univ, Duke Clin Res Inst, Durham, NC USA. [Ikeda, Morna; Mulle, Jennifer G.] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA. [Mulle, Jennifer G.; Warren, Stephen T.] Emory Univ, Dept Epidemiol, Atlanta, GA 30322 USA. RP Satten, GA (reprint author), Ctr Dis Control & Prevent, Div Reprod Hlth, Atlanta, GA 30329 USA. EM GSatten@cdc.gov FU NIH [MH080129, MH083722, MH080583, HL077663, MH084680]; Simons Foundation FX MI, JGM, and STW are supported, in part, by NIH grants MH080129 and MH083722 and by the Simons Foundation (to STW). JGM was supported by a NIH fellowship award (MH080583). ASA is supported by NIH grants HL077663 and MH084680. The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Broadie, Kendal TI Impaired activity-dependent neural circuit assembly and refinement in autism spectrum disorder genetic models SO FRONTIERS IN CELLULAR NEUROSCIENCE LA English DT Review DE fragile X syndrome; synaptogenesis; synapse elimination; E/I ratio; optogenetics; Drosophila ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; METABOTROPIC GLUTAMATE-RECEPTOR; FMR1 KNOCKOUT MICE; DROSOPHILA NEUROMUSCULAR-JUNCTIONS; CRITICAL PERIOD PLASTICITY; LONG-TERM DEPRESSION; MESSENGER-RNA LOCALIZATION; REGULATES SYNAPTIC GROWTH; DEVELOPING NERVOUS-SYSTEM AB Early-use activity during circuit-specific critical periods refines brain circuitry by the coupled processes of eliminating inappropriate synapses and strengthening maintained synapses. We theorize these activity-dependent (A-D) developmental processes are specifically impaired in autism spectrum disorders (ASDs). ASD genetic models in both mouse and Drosophila have pioneered our insights into normal A-D neural circuit assembly and consolidation, and how these developmental mechanisms go awry in specific genetic conditions. The monogenic fragile X syndrome (FXS), a common cause of heritable ASD and intellectual disability, has been particularly well linked to defects in A-D critical period processes. The fragile X mental retardation protein (FMRP) is positively activity-regulated in expression and function, in turn regulates excitability and activity in a negative feedback loop, and appears to be required for the A-D remodeling of synaptic connectivity during early-use critical periods. The Drosophila FXS model has been shown to functionally conserve the roles of human FMRP in synaptogenesis, and has been centrally important in generating our current mechanistic understanding of the FXS disease state. Recent advances in Drosophila optogenetics, transgenic calcium reporters, highly-targeted transgenic drivers for individually-identified neurons, and a vastly improved connectome of the brain are now being combined to provide unparalleled opportunities to both manipulate and monitor A-D processes during critical period brain development in defined neural circuits. The field is now poised to exploit this new Drosophila transgenic toolbox for the systematic dissection of A-D mechanisms in normal versus ASD brain development, particularly utilizing the well-established Drosophila FXS disease model. C1 [Doll, Caleb A.; Broadie, Kendal] Vanderbilt Univ, Dept Biol Sci, Nashville, TN 37232 USA. [Broadie, Kendal] Vanderbilt Univ, Kennedy Ctr Res Human Dev, Nashville, TN 37232 USA. RP Broadie, K (reprint author), Vanderbilt Univ, Dept Biol Sci, 6270A MRBIII, Nashville, TN 37232 USA. EM kendal.broadie@vanderbilt.edu FU NIH [R01 MH096832] FX We thank Dr. Cheryl Gatto for critical input on this manuscript. This work is supported by NIH grant R01 MH096832 to Kendal Broadie. 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Tsintsadze, Timur Shahrokhi, Amene Eftekhari, Sanaz Khalilov, Ilgam Tsintsadze, Vera Brouchoud, Corinne Chazal, Genevieve Lemonnier, Eric Lozovaya, Natalia Burnashev, Nail Ben-Ari, Yehezkel TI Oxytocin-Mediated GABA Inhibition During Delivery Attenuates Autism Pathogenesis in Rodent Offspring SO SCIENCE LA English DT Article ID RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS; VASOPRESSIN; CHILDREN; NEURONS; BRAIN AB We report that the oxytocin-mediated neuroprotective g-aminobutyric acid (GABA) excitatory-inhibitory shift during delivery is abolished in the valproate and fragile X rodent models of autism. During delivery and subsequently, hippocampal neurons in these models have elevated intracellular chloride levels, increased excitatory GABA, enhanced glutamatergic activity, and elevated gamma oscillations. Maternal pretreatment with bumetanide restored in offspring control electrophysiological and behavioral phenotypes. Conversely, blocking oxytocin signaling in naive mothers produced offspring having electrophysiological and behavioral autistic-like features. Our results suggest a chronic deficient chloride regulation in these rodent models of autism and stress the importance of oxytocin-mediated GABAergic inhibition during the delivery process. Our data validate the amelioration observed with bumetanide and oxytocin and point to common pathways in a drug-induced and a genetic rodent model of autism. C1 [Tyzio, Roman; Tsintsadze, Timur; Khalilov, Ilgam; Tsintsadze, Vera; Brouchoud, Corinne; Chazal, Genevieve; Lozovaya, Natalia; Burnashev, Nail; Ben-Ari, Yehezkel] INSERM, Mediterranean Inst Neurobiol INMED, U901, F-13258 Marseille, France. [Tyzio, Roman; Tsintsadze, Timur; Khalilov, Ilgam; Tsintsadze, Vera; Brouchoud, Corinne; Chazal, Genevieve; Lozovaya, Natalia; Burnashev, Nail; Ben-Ari, Yehezkel] Aix Marseille Univ, UMR 901, Marseille, France. [Nardou, Romain; Ferrari, Diana C.; Tsintsadze, Timur; Shahrokhi, Amene; Eftekhari, Sanaz; Ben-Ari, Yehezkel] Neurochlore, F-13273 Marseille 09, France. [Lemonnier, Eric] Lab Neurosci Brest EA4685, Brest, France. RP Ben-Ari, Y (reprint author), INSERM, Mediterranean Inst Neurobiol INMED, U901, F-13258 Marseille, France. EM yehezkel.ben-ari@inserm.fr FU INSERM; Neurochlore; France's Agence Nationale de la Recherche [ANR-12-RPIB-0001-01]; Simons Foundation (SFARI) [230267] FX We thank at INMED C. Rivera and C. Pellegrino for their assistance on the Western blot and for the panKCC2 antibody, R. Martinez for his technical help with the ultrasonic setup, and M. L. Scattoni and M. Wohr for their assistance with the vocalization experiments and analysis. This study was supported by INSERM (funds to INMED), Neurochlore, France's Agence Nationale de la Recherche (ANR-12-RPIB-0001-01), and the Simons Foundation (SFARI award #230267 to Y. B-A.). We also thank Sanofi-Syntelabo for the gift of SSR126768A. On 13 January 2011, Neurochlore filed a patent entitled "Compounds for the treatment of autism" (U.S. patent number 13/522372, worldwide PCT/EP2011/050394); Y. B-A. and E. L. are identified as inventors of this patent. Y. B-A. and E. L. are founders and shareholders of Neurochlore, a company focused on the treatment of developmental disorders. R.N. and D. C. F. own shares in Neurochlore. 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Zielinski, Brandon A. Fletcher, P. Thomas Alexander, Andrew L. Lange, Nicholas Bigler, Erin D. Lainhart, Janet E. Anderson, Jeffrey S. TI Abnormal lateralization of functional connectivity between language and default mode regions in autism SO MOLECULAR AUTISM LA English DT Article DE brain lateralization; brain asymmetry; autism; autism spectrum disorder; language; functional magnetic; resonance imaging; functional connectivity ID GLOBAL SIGNAL REGRESSION; SPECTRUM DISORDERS; CORTICAL ACTIVATION; ASSOCIATION CORTEX; COMPLEX SOUNDS; BRAIN; ASYMMETRY; NETWORKS; CHILDREN; IMPAIRMENT AB Background: Lateralization of brain structure and function occurs in typical development, and abnormal lateralization is present in various neuropsychiatric disorders. Autism is characterized by a lack of left lateralization in structure and function of regions involved in language, such as Broca and Wernicke areas. Methods: Using functional connectivity magnetic resonance imaging from a large publicly available sample (n = 964), we tested whether abnormal functional lateralization in autism exists preferentially in language regions or in a more diffuse pattern across networks of lateralized brain regions. Results: The autism group exhibited significantly reduced left lateralization in a few connections involving language regions and regions from the default mode network, but results were not significant throughout left-and right-lateralized networks. There is a trend that suggests the lack of left lateralization in a connection involving Wernicke area and the posterior cingulate cortex associates with more severe autism. Conclusions: Abnormal language lateralization in autism may be due to abnormal language development rather than to a deficit in hemispheric specialization of the entire brain. C1 [Nielsen, Jared A.; Anderson, Jeffrey S.] Univ Utah, Interdept Program Neurosci, Salt Lake City, UT 84132 USA. [Nielsen, Jared A.] Univ Utah, Dept Psychiat, Salt Lake City, UT 84108 USA. [Zielinski, Brandon A.] Univ Utah, Dept Pediat & Neurol, Salt Lake City, UT 84108 USA. [Zielinski, Brandon A.] Primary Childrens Med Ctr, Salt Lake City, UT 84108 USA. [Fletcher, P. Thomas] Univ Utah, Sch Comp & Sci Comp, Salt Lake City, UT 84112 USA. [Fletcher, P. Thomas] Univ Utah, Imaging Inst, Salt Lake City, UT 84112 USA. [Alexander, Andrew L.; Lainhart, Janet E.] Univ Wisconsin, Dept Psychiat, Madison, WI 53705 USA. [Alexander, Andrew L.; Lainhart, Janet E.] Univ Wisconsin, Waisman Lab Brain Imaging & Behav, Madison, WI 53705 USA. [Alexander, Andrew L.] Univ Wisconsin, Dept Med Phys, Madison, WI 53705 USA. [Lange, Nicholas] Harvard Univ, Dept Psychiat & Biostat, Boston, MA 02215 USA. [Lange, Nicholas] McLean Hosp, Neurostat Lab, Belmont, MA 02478 USA. [Bigler, Erin D.] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA. [Bigler, Erin D.] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA. [Bigler, Erin D.; Anderson, Jeffrey S.] Univ Utah, Brain Inst Utah, Salt Lake City, UT 84112 USA. [Anderson, Jeffrey S.] Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USA. [Anderson, Jeffrey S.] Univ Utah, Sch Med 1A71, Dept Radiol, Salt Lake City, UT 84132 USA. RP Anderson, JS (reprint author), Univ Utah, Interdept Program Neurosci, 20 North 1900 East, Salt Lake City, UT 84132 USA. EM andersonjeffs@gmail.com FU NIH [K08MH092697, R01MH084795, R01MH080826, T32DC008553]; Morrell Family Foundation (JSA) FX The analysis described was supported by NIH grant numbers K08MH092697 (JSA), R01MH084795 (JEL, PTF, NL), R01MH080826 (JEL, ALA, NL, EDB), T32DC008553 (JAN), the Flamm Family Foundation (JSA), the Morrell Family Foundation (JSA). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Mental Health or the National Institutes of Health. Funding sources for the ABIDE dataset are listed at fcon_ 1000. projects. nitrcc.org/indi/abide. We thank Alyson Froehlich, Molly Prigge, Jason Cooperrider, Anna Cariello, and Celeste Knowles for their contributions to this project. We also sincerely thank the children, adolescents, and adults with autism, the individuals with typical development, and all the families who participated in this study. Finally, we would like to thank the anonymous reviewers whose thoughtful comments and questions greatly improved the manuscript. 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Autism PD FEB 6 PY 2014 VL 5 AR 8 DI 10.1186/2040-2392-5-8 PG 11 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA AF4VA UT WOS:000334711200001 PM 24502324 ER PT J AU Orekhova, EV Stroganova, TA AF Orekhova, Elena V. Stroganova, Tatiana A. TI Arousal and attention re-orienting in autism spectrum disorders: evidence from auditory event-related potentials SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE autism spectrum disorders (ASD); arousal; attention re-orienting; sensory modulation; auditory event-related potentials; cholinergic pathways; nicotine ID NICOTINIC ACETYLCHOLINE-RECEPTOR; CORTICAL CHOLINERGIC INPUTS; HIGH-FUNCTIONING AUTISM; NON-SPEECH SOUNDS; GAP OVERLAP TASK; MISMATCH NEGATIVITY; ASPERGER-SYNDROME; BASAL FOREBRAIN; YOUNG-CHILDREN; VISUOSPATIAL ATTENTION AB The extended phenotype of autism spectrum disorders (ASD) includes a combination of arousal regulation problems, sensory modulation difficulties, and attention re-orienting deficit. A slow and inefficient re-orienting to stimuli that appear outside of the attended sensory stream is thought to be especially detrimental for social functioning. Event-related potentials (ERPs) and magnetic fields (ERFs) may help to reveal which processing stages underlying brain response to unattended but salient sensory event are affected in individuals with ASD. Previous research focusing on two sequential stages of the brain response automatic detection of physical changes in auditory stream, indexed by mismatch negativity (MMN), and evaluation of stimulus novelty, indexed by P3a component, found in individuals with ASD either increased, decreased, or normal processing of deviance and novelty. The review examines these apparently conflicting results, notes gaps in previous findings, and suggests a potentially unifying hypothesis relating the dampened responses to unattended sensory events to the deficit in rapid arousal process. Specifically, "sensory gating" studies focused on pre-attentive arousal consistently demonstrated that brain response to unattended and temporally novel sound in ASD is already affected at around 100 ms after stimulus onset. We hypothesize that abnormalities in nicotinic cholinergic arousal pathways, previously reported in individuals with ASD, may contribute to these ERP/ERF aberrations and result in attention re-orienting deficit. Such cholinergic dysfunction may be present in individuals with ASD early in life and can influence both sensory processing and attention re-orienting behavior. Identification of early neurophysiological biomarkers for cholinergic deficit would help to detect infants "at risk" who can potentially benefit from particular types of therapies or interventions. C1 [Orekhova, Elena V.; Stroganova, Tatiana A.] Moscow State Univ Psychol & Educ, MEG Ctr, Moscow 123290, Russia. [Orekhova, Elena V.] Sahlgrens Acad, MedTech West, Gothenburg, Sweden. RP Orekhova, EV (reprint author), Moscow State Univ Psychol & Educ, MEG Ctr, Shelepihinskaja Embankment 2a, Moscow 123290, Russia. EM orekhova.elena.v@gmail.com FU Russian Ministry of Science and Education [16.518.11.7088]; grant ofi-m from Russian foundation for basic research [09-06-12042] FX This research was supported by grant # 16.518.11.7088 from the Russian Ministry of Science and Education and grant ofi-m # 09-06-12042 from Russian foundation for basic research. 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Hum. Neurosci. PD FEB 6 PY 2014 VL 8 AR 34 DI 10.3389/fnhum.2014.00034 PG 17 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA AB6ZT UT WOS:000331939800001 PM 24567709 ER PT J AU Devanna, P Vernes, SC AF Devanna, Paolo Vernes, Sonja C. TI A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137 SO SCIENTIFIC REPORTS LA English DT Article ID LYMPHOBLASTOID CELL-LINES; PURKINJE-CELLS; SPECTRUM DISORDERS; EXPRESSION; CEREBELLUM; IDENTIFICATION; MICRORNAS; STAGGERER; TARGETS; ALPHA AB Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes. C1 [Devanna, Paolo; Vernes, Sonja C.] Max Planck Inst Psycholinguist, Language & Genet Dept, NL-6525 XD Nijmegen, Netherlands. [Vernes, Sonja C.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands. RP Vernes, SC (reprint author), Max Planck Inst Psycholinguist, Language & Genet Dept, Wundtlaan 1, NL-6525 XD Nijmegen, Netherlands. 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Although atlas-based segmentation has shown its potential for both tissue and structure segmentation, due to the inherent natural variability as well as disease-related changes in MR appearance, a single atlas image is often inappropriate to represent the full population of datasets processed in a given neuroimaging study. As an alternative for the case of single atlas segmentation, the use of multiple atlases alongside label fusion techniques has been introduced using a set of individual "atlases" that encompasses the expected variability in the studied population. In our study, we proposed a multi-atlas segmentation scheme with a novel graph-based atlas selection technique. We first paired and co-registered all atlases and the subject MR scans. A directed graph with edge weights based on intensity and shape similarity between all MR scans is then computed. The set of neighboring templates is selected via clustering of the graph. 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C1 [Wang, Jiahui; Rumple, Ashley; Ouziel, Clementine; Perrot, Emilie; Styner, Martin] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA. [Vachet, Clement; Gerig, Guido] Univ Utah, Sci Computing & Imaging Inst, Salt Lake City, UT USA. [Gouttard, Sylvain] Bioclin, Lyon, France. [Du, Guangwei; Huang, Xuemei] Penn State Univ, Milton Hershey Med Ctr, Dept Neurol Neurosurg & Radiol, Hershey, PA USA. [Styner, Martin] Univ N Carolina, Dept Comp Sci, Chapel Hill, NC USA. RP Wang, JH (reprint author), Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA. EM jiahui_wang@med.unc.edu FU National Institutes of Health [R42 NS059095, U24 NS059696-01A1, HD-055741, U54 EB005149, R01 NS060722, HD-003110]; North Carolina Translational and Clinical Sciences Institute [50KR71104]; [P50 AG05681]; [P01 AG03991]; [R01 AG021910]; [P50 MH071616]; [U24 RR021382]; [R01 MH56584] FX This work was supported by the National Institutes of Health Grant Nos. R42 NS059095, U24 NS059696-01A1, HD-055741, U54 EB005149 (NA-MIC), R01 NS060722, HD-003110, North Carolina Translational and Clinical Sciences Institute 50KR71104. In this study, the MRI scans were selected from OASIS database, which was supported by P50 AG05681, P01 AG03991, R01 AG021910, P50 MH071616, U24 RR021382, R01 MH56584. 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Neuroinformatics PD FEB 6 PY 2014 VL 8 AR 7 DI 10.3389/fninf.2014.00007 PG 11 WC Mathematical & Computational Biology; Neurosciences SC Mathematical & Computational Biology; Neurosciences & Neurology GA AZ3CK UT WOS:000348105200001 PM 24567717 ER PT J AU Elmore, MRP Burton, MD Conrad, MS Rytych, JL Van Alstine, WG Johnson, RW AF Elmore, Monica R. P. Burton, Michael D. Conrad, Matthew S. Rytych, Jennifer L. Van Alstine, William G. Johnson, Rodney W. TI Respiratory Viral Infection in Neonatal Piglets Causes Marked Microglia Activation in the Hippocampus and Deficits in Spatial Learning SO JOURNAL OF NEUROSCIENCE LA English DT Article DE brain; cognition; inflammation; PRRSV; sickness behavior ID AUTISM SPECTRUM DISORDERS; INDUCED SICKNESS BEHAVIOR; CENTRAL-NERVOUS-SYSTEM; T-MAZE TASK; INFLUENZA INFECTION; SYNDROME VIRUS; IMMUNE-SYSTEM; BRAIN GROWTH; SPINAL-CORD; PLACE AB Environmental insults during sensitive periods can affect hippocampal development and function, but little is known about peripheral infection, especially in humans and other animals whose brain is gyrencephalic and experiences major perinatal growth. Using a piglet model, the present study showed that inoculation on postnatal day 7 with the porcine reproductive and respiratory syndrome virus (PRRSV) caused microglial activation within the hippocampus with 82% and 43% of isolated microglia being MHC II+ 13 and 20 d after inoculation, respectively. In control piglets, <5% of microglia isolated from the hippocampus were MHC II+. PRRSV piglets were febrile (p < 0.0001), anorectic (p < 0.0001), and weighed less at the end of the study (p = 0.002) compared with control piglets. Increased inflammatory gene expression (e.g., IL-1 beta, IL-6, TNF-alpha, and IFN-gamma) was seen across multiple brain regions, including the hippocampus, whereas reductions in CD200, NGF, and MBP were evident. In a test of spatial learning, PRRSV piglets took longer to acquire the task, had a longer latency to choice, and had a higher total distance moved. Overall, these data demonstrate that viral respiratory infection is associated with a marked increase in activated microglia in the hippocampus, neuroinflammation, and impaired performance in a spatial cognitive task. As respiratory infections are common in human neonates and infants, approaches to regulate microglial cell activity are likely to be important. C1 [Elmore, Monica R. P.; Burton, Michael D.; Johnson, Rodney W.] Univ Illinois, Dept Anim Sci, Urbana, IL 61801 USA. [Elmore, Monica R. P.; Burton, Michael D.; Conrad, Matthew S.; Rytych, Jennifer L.; Johnson, Rodney W.] Univ Illinois, Integrat Immunol & Behav Program, Urbana, IL 61801 USA. [Conrad, Matthew S.; Johnson, Rodney W.] Univ Illinois, Neurosci Program, Urbana, IL 61801 USA. [Van Alstine, William G.] Purdue Univ, Dept Comparat Pathol, W Lafayette, IN 47907 USA. RP Johnson, RW (reprint author), Univ Illinois, 1207 West Gregory Dr, Urbana, IL 61801 USA. EM rwjohn@illinois.edu FU NIH [HD069899]; NIFA [ILLU-538-913] FX This work was supported by NIH HD069899 and NIFA ILLU-538-913 (to R.W.J.). We thank the following staff and students for their assistance with this project: Ravi Amin, Brandi Burton, Kaleigh Evans, Tara Garcia, Trisha Gibbons, Tyler Kuper, Hongnan Liu, Sarah Main, Geraldine Petr, Barbara Pilas, Peter Prestia, Casey Radlowski, Brigitte Townsend, Paige Wachholz, and Sara Westergaard. 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Neurosci. PD FEB 5 PY 2014 VL 34 IS 6 BP 2120 EP 2129 DI 10.1523/JNEUROSCI.2180-13.2014 PG 10 WC Neurosciences SC Neurosciences & Neurology GA AB0AW UT WOS:000331455200011 PM 24501353 ER PT J AU Grayson, DS Ray, S Carpenter, S Iyer, S Dias, TGC Stevens, C Nigg, JT Fair, DA AF Grayson, David S. Ray, Siddharth Carpenter, Samuel Iyer, Swathi Dias, Taciana G. Costa Stevens, Corinne Nigg, Joel T. Fair, Damien A. TI Structural and Functional Rich Club Organization of the Brain in Children and Adults SO PLOS ONE LA English DT Article ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; GRAPH-THEORETICAL ANALYSIS; NETWORK CONNECTIVITY; COGNITIVE CONTROL; DEFAULT MODE; SCHIZOPHRENIA; ARCHITECTURE; INTEGRATION; CORTEX; MRI AB Recent studies using Magnetic Resonance Imaging (MRI) have proposed that the brain's white matter is organized as a rich club, whereby the most highly connected regions of the brain are also highly connected to each other. Here we use both functional and diffusion-weighted MRI in the human brain to investigate whether the rich club phenomena is present with functional connectivity, and how this organization relates to the structural phenomena. We also examine whether rich club regions serve to integrate information between distinct brain systems, and conclude with a brief investigation of the developmental trajectory of rich-club phenomena. In agreement with prior work, both adults and children showed robust structural rich club organization, comprising regions of the superior medial frontal/dACC, medial parietal/PCC, insula, and inferior temporal cortex. We also show that these regions were highly integrated across the brain's major networks. Functional brain networks were found to have rich club phenomena in a similar spatial layout, but a high level of segregation between systems. While no significant differences between adults and children were found structurally, adults showed significantly greater functional rich club organization. This difference appeared to be driven by a specific set of connections between superior parietal, insula, and supramarginal cortex. In sum, this work highlights the existence of both a structural and functional rich club in adult and child populations with some functional changes over development. It also offers a potential target in examining atypical network organization in common developmental brain disorders, such as ADHD and Autism. C1 [Grayson, David S.; Ray, Siddharth; Carpenter, Samuel; Iyer, Swathi; Dias, Taciana G. Costa; Stevens, Corinne; Nigg, Joel T.; Fair, Damien A.] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA. [Grayson, David S.] Univ Calif Davis, Ctr Neurosci, Davis, CA 95616 USA. [Dias, Taciana G. Costa] Univ Sao Paulo, Sch Med, Hosp Clin, Inst Psychiat, Sao Paulo, Brazil. [Nigg, Joel T.; Fair, Damien A.] Oregon Hlth & Sci Univ, Dept Psychiat, Portland, OR 97201 USA. [Fair, Damien A.] Oregon Hlth & Sci Univ, Adv Imaging Res Ctr, Portland, OR 97201 USA. RP Grayson, DS (reprint author), Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA. EM dgrayson@ucdavis.edu; faird@ohsu.edu FU National Institutes of Health [R00 MH091238, R01 MH096773, R01 MH086654]; National Institute of Mental Health [R00 MH091238, R01 MH096773, R01 MH086654]; Oregon Clinical and Translational Research Institute; Medical Research Foundation; McDonnell Foundation FX Funders for grants R00 MH091238 (DF), R01 MH096773 (DF) and R01 MH086654 (JN) are National Institutes of Health and National Institute of Mental Health. Funding also included Oregon Clinical and Translational Research Institute (DF), Medical Research Foundation (DF), R01 MH096773 (DF), and McDonnell Foundation (Petersen/Sporns/DF). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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W. Chavan, Vrushali Mukherjee, Konark TI Identification and Glycerol-Induced Correction of Misfolding Mutations in the X-Linked Mental Retardation Gene CASK SO PLOS ONE LA English DT Article ID PROTEIN STABILITY CHANGES; AMYLOID-FIBRIL FORMATION; PRESYNAPTIC ACTIVE ZONE; DE-NOVO MUTATIONS; CHEMICAL CHAPERONES; FLUORESCENT PROTEIN; SECONDARY STRUCTURE; DISORDERED REGIONS; MISSENSE MUTATIONS; SYNAPTIC FUNCTION AB The overwhelming amount of available genomic sequence variation information demands a streamlined approach to examine known pathogenic mutations of any given protein. Here we seek to outline a strategy to easily classify pathogenic missense mutations that cause protein misfolding and are thus good candidates for chaperone-based therapeutic strategies, using previously identified mutations in the gene CASK. We applied a battery of bioinformatics algorithms designed to predict potential impact on protein structure to five pathogenic missense mutations in the protein CASK that have been shown to underlie pathologies ranging from X-linked mental retardation to autism spectrum disorder. A successful classification of the mutations as damaging was not consistently achieved despite the known pathogenicity. In addition to the bioinformatics analyses, we performed molecular modeling and phylogenetic comparisons. Finally, we developed a simple high-throughput imaging assay to measure the misfolding propensity of the CASK mutants in situ. Our data suggests that a phylogenetic analysis may be a robust method for predicting structurally damaging mutations in CASK. Mutations in two evolutionarily invariant residues (Y728C and W919R) exhibited a strong propensity to misfold and form visible aggregates in the cytosolic milieu. The remaining mutations (R28L, Y268H, and P396S) showed no evidence of aggregation and maintained their interactions with known CASK binding partners liprin-alpha 3 Mint-1, and Veli, indicating an intact structure. Intriguingly, the protein aggregation caused by the Y728C and W919R mutations was reversed by treating the cells with a chemical chaperone (glycerol), providing a possible therapeutic strategy for treating structural mutations in CASK in the future. C1 [LaConte, Leslie E. W.; Chavan, Vrushali; Mukherjee, Konark] Virginia Tech, Virginia Tech Carilion Res Inst, Roanoke, VA 24016 USA. [Mukherjee, Konark] Virginia Tech, Dept Biol Sci, Blacksburg, VA USA. RP Mukherjee, K (reprint author), Virginia Tech, Virginia Tech Carilion Res Inst, Roanoke, VA 24016 USA. 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Olausson, Hakan Kaiser, Martha D. TI Development of brain mechanisms for processing affective touch SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE LA English DT Article DE fMRI; touch; brain; children; development ID POSTERIOR INSULAR CORTEX; UNMYELINATED TACTILE AFFERENTS; GENTLE TOUCH; PREFRONTAL CORTEX; SENSORY NEURONS; FMRI; CHILDREN; RAT; STIMULATION; ACTIVATION AB Affective tactile stimulation plays a key role in the maturation of neural circuits, but the development of brain mechanisms processing touch is poorly understood. We therefore used functional magnetic resonance imaging (fMRI) to study brain responses to soft brush stroking of both glabrous (palm) and hairy (forearm) skin in healthy children (5-13 years), adolescents (14-17 years), and adults (25-35 years). Adult-defined regions-of-interests in the primary somatosensory cortex (SI), secondary somatosensory cortex (SID, insular cortex and right posterior superior temporal sulcus (pSTS) were significantly and similarly activated in all age groups. Whole-brain analyses revealed that responses in the ipsilateral SII were positively correlated with age in both genders, and that responses in bilateral regions near the pSTS correlated significantly and strongly with age in females but not in males. These results suggest that brain mechanisms associated with both sensory-discriminative and affective-motivational aspects of touch are largely established in school-aged children, and that there is a general continuing maturation of SII and a female-specific increase in pSTS sensitivity with age. Our work establishes a groundwork for future comparative studies of tactile processing in developmental disorders characterized by disrupted social perception such as autism. 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Behav. Neurosci. PD FEB 4 PY 2014 VL 8 DI 10.3389/fnbeh.2014.00024 PG 10 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 301VS UT WOS:000330560800001 ER PT J AU Rotschafer, SE Razak, KA AF Rotschafer, Sarah E. Razak, Khaleel A. TI Auditory processing in fragile X syndrome SO FRONTIERS IN CELLULAR NEUROSCIENCE LA English DT Review DE autism; fragile X syndrome; auditory responses; cortex; biomarkers; audiogenic seizures; sensory hypersensitivity ID PRIMARY SOMATOSENSORY CORTEX; MENTAL-RETARDATION SYNDROME; AUTISM SPECTRUM DISORDER; EVOKED MAGNETIC-FIELDS; FMR1 KNOCKOUT MOUSE; DENDRITIC SPINE; DOWN-SYNDROME; MISMATCH NEGATIVITY; GABA(A) RECEPTOR; MINOCYCLINE TREATMENT AB Fragile X syndrome (FXS) is an inherited form of intellectual disability and autism. Among other symptoms, FXS patients demonstrate abnormalities in sensory processing and communication. Clinical, behavioral, and electrophysiological studies consistently show auditory hypersensitivity in humans with FXS. Consistent with observations in humans, the Fmr1 KO mouse model of FXS also shows evidence of altered auditory processing and communication deficiencies. A well-known and commonly used phenotype in pre-clinical studies of FXS is audiogenic seizures. In addition, increased acoustic startle response is seen in the Fmr1 KO mice. In vivo electrophysiological recordings indicate hyper-excitable responses, broader frequency tuning, and abnormal spectrotemporal processing in primary auditory cortex of Fmr1 KO mice. Thus, auditory hyper-excitability is a robust, reliable, and translatable biomarker in Fmr1 KO mice. Abnormal auditory evoked responses have been used as outcome measures to test therapeutics in FXS patients. Given that similarly abnormal responses are present in Fmr1 KO mice suggests that cellular mechanisms can be addressed. Sensory cortical deficits are relatively more tractable from a mechanistic perspective than more complex social behaviors that are typically studied in autism and FXS. The focus of this review is to bring together clinical, functional, and structural studies in humans with electrophysiological and behavioral studies in mice to make the case that auditory hypersensitivity provides a unique opportunity to integrate molecular, cellular, circuit level studies with behavioral outcomes in the search for therapeutics for FXS and other autism spectrum disorders. C1 [Rotschafer, Sarah E.; Razak, Khaleel A.] Univ Calif Riverside, Dept Psychol, Grad Program Neurosci, Riverside, CA 92521 USA. RP Razak, KA (reprint author), Univ Calif Riverside, Dept Psychol, Grad Program Neurosci, 900 Univ Ave, Riverside, CA 92521 USA. EM khaleel@ucr.edu FU FRAXA Research Foundation FX We thank the members of the Razak lab for important discussions leading to this review. The research on FXS in the Razak lab is funded by FRAXA Research Foundation. 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Cell. Neurosci. PD FEB 4 PY 2014 VL 8 AR 19 DI 10.3389/fncel.2014.00019 PG 11 WC Neurosciences SC Neurosciences & Neurology GA AA4IS UT WOS:000331059900001 PM 24550778 ER PT J AU Brunetti, M Zappasodi, F Marzetti, L Perrucci, MG Cirillo, S Romani, GL Pizzella, V Aureli, T AF Brunetti, Marcella Zappasodi, Filippo Marzetti, Laura Perrucci, Mauro Gianni Cirillo, Simona Romani, Gian Luca Pizzella, Vittorio Aureli, Tiziana TI Do you know what I mean? Brain oscillations and the understanding of communicative intentions SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE declarative pointing; theory of mind; social cognition; beta rhythm; gamma rhythm ID SUPERIOR TEMPORAL SULCUS; MEDIAL FRONTAL-CORTEX; PREFRONTAL CORTEX; FUNCTIONAL CONNECTIVITY; SOCIAL-INTERACTION; CORTICAL RHYTHMS; PARIETAL CORTEX; WORKING-MEMORY; MIND; PERCEPTION AB Pointing gesture allows children to communicate their intentions before the acquisition of language. In particular, two main purposes seem to underlie the gesture: to request a desired object (imperative pointing) or to share attention on that object (declarative pointing). Since the imperative pointing has an instrumental goal and the declarative has an interpersonal one, only the latter gesture is thought to signal the infant's awareness of the communicative partner as a mental agent. The present study examined the neural responses of adult subjects with the aim to test the hypothesis that declarative rather than imperative pointing reflects mentalizing skills. Fourteen subjects were measured in a magnetoencephalographic environment including four conditions, based on the goal of the pointing imperative or declarative and the role of the subject sender or receiver of pointing.Time frequency modulations of brain activity in each condition (declarative production and comprehension, imperative production and comprehension) were analyzed. Both low beta and high beta power were stronger during declarative than imperative condition in anterior cingulated cortex and right posterior superior temporal sulcus, respectively. Furthermore, high gamma activity was higher in right temporo-parietal junction during the sender than receiving condition. This suggests that communicative pointing modulated brain regions previously described in neuroimaging research as linked to social cognitive skills and that declarative pointing is more capable of eliciting that activation than imperative. Our results contribute to the understanding of the roles of brain rhythm dynamics in social cognition, thus supporting neural research on that topic during developmental both in typical and atypical conditions, such as autism spectrum disorder. In particular, the identification of relevant regions in a mature brain may stimulate a future work on the developmental changes of neural activation in the same regions. C1 [Brunetti, Marcella; Zappasodi, Filippo; Marzetti, Laura; Perrucci, Mauro Gianni; Romani, Gian Luca; Pizzella, Vittorio] Univ G Annunzio Chieti Pescara, Inst Adv Biomed Technol, I-66013 Chieti, Italy. [Brunetti, Marcella; Zappasodi, Filippo; Marzetti, Laura; Perrucci, Mauro Gianni; Cirillo, Simona; Romani, Gian Luca; Pizzella, Vittorio; Aureli, Tiziana] Univ G Annunzio Chieti Pescara, Dept Neurosci & Imaging, I-66013 Chieti, Italy. RP Brunetti, M (reprint author), Univ G Annunzio Chieti Pescara, Inst Adv Biomed Technol, Dept Neurosci & Imaging, Via Dei Vestini 33, I-66013 Chieti, Italy. 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PD FEB 4 PY 2014 VL 8 AR 36 DI 10.3389/fnhum.2014.00036 PG 12 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA 302YE UT WOS:000330640300002 PM 24550813 ER PT J AU Koldewyn, K Yendiki, A Weigelt, S Gweon, H Julian, J Richardson, H Malloy, C Saxe, R Fischl, B Kanwisher, N AF Koldewyn, Kami Yendiki, Anastasia Weigelt, Sarah Gweon, Hyowon Julian, Joshua Richardson, Hilary Malloy, Caitlin Saxe, Rebecca Fischl, Bruce Kanwisher, Nancy TI Differences in the right inferior longitudinal fasciculus but no general disruption of white matter tracts in children with autism spectrum disorder SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE diffusion-weighted imaging; connectivity ID FUNCTIONAL CONNECTIVITY MRI; MOTION CORRECTION; SUBJECT MOTION; HEAD MOTION; HUMAN BRAIN; CORTEX; REGISTRATION; PERCEPTION; DTI AB One of the most widely cited features of the neural phenotype of autism is reduced "integrity" of long-range white matter tracts, a claim based primarily on diffusion imaging studies. However, many prior studies have small sample sizes and/or fail to address differences in data quality between those with autism spectrum disorder (ASD) and typical participants, and there is little consensus on which tracts are affected. To overcome these problems, we scanned a large sample of children with autism (n = 52) and typically developing children (n = 73). Data quality was variable, and worse in the ASD group, with some scans unusable because of head motion artifacts. When we follow standard data analysis practices (i.e., without matching head motion between groups), we replicate the finding of lower fractional anisotropy (FA) in multiple white matter tracts. However, when we carefully match data quality between groups, all these effects disappear except in one tract, the right inferior longitudinal fasciculus (ILF). Additional analyses showed the expected developmental increases in the FA of fiber tracts within ASD and typical groups individually, demonstrating that we had sufficient statistical power to detect known group differences. Our data challenge the widely claimed general disruption of white matter tracts in autism, instead implicating only one tract, the right ILF, in the ASD phenotype. C1 [Koldewyn, Kami; Weigelt, Sarah; Gweon, Hyowon; Julian, Joshua; Richardson, Hilary; Malloy, Caitlin; Saxe, Rebecca; Kanwisher, Nancy] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA. [Koldewyn, Kami] Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales. [Yendiki, Anastasia; Fischl, Bruce] Massachusetts Gen Hosp, Dept Radiol, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA 02129 USA. [Yendiki, Anastasia; Fischl, Bruce] Harvard Univ, Sch Med, Charlestown, MA 02129 USA. [Weigelt, Sarah] Ruhr Univ Bochum, Fak Psychol, D-44801 Bochum, Germany. [Fischl, Bruce] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA. RP Koldewyn, K (reprint author), MIT, Dept Brain & Cognit Sci, E25-618, Cambridge, MA 02139 USA. EM k.koldewyn@bangor.ac.uk; ngk@mit.edu FU Ellison Medical Foundation; Simons Foundation; National Center for Research Resources Grant [U24 RR021382]; National Institute for Biomedical Imaging and Bioengineering [5P41EB015896-15, R01EB006758]; National Institute on Aging [AG022381, 5R01AG008122-22]; National Institutes of Health Blueprint for Neuroscience Research Grant [5U01-MH093765]; multiinstitutional Human Connectome Project; [1S10RR023401]; [1S10RR019307]; [1S10RR023043] FX The authors thank the study participants and their families, including those participating in the SFARI Simplex Collection and the Autism Consortium, as well as the principle investigators at SFARI SSC sites. We also thank the team at the Athinoula A. Martinos Imaging Center at McGovern Institute for Brain Research, Massachusetts Institute of Technology for their excellent technical support. This study was supported by the Ellison Medical Foundation; a grant from the Simons Foundation to the Simons Center for the Social Brain at Massachusetts Institute of Technology; National Center for Research Resources Grant U24 RR021382; National Institute for Biomedical Imaging and Bioengineering Grants 5P41EB015896-15 and R01EB006758; National Institute on Aging Grants AG022381 and 5R01AG008122-22; resources provided by Shared Instrumentation Grants 1S10RR023401, 1S10RR019307, and 1S10RR023043; and National Institutes of Health Blueprint for Neuroscience Research Grant 5U01-MH093765, part of the multiinstitutional Human Connectome Project. 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Natl. Acad. Sci. U. S. A. PD FEB 4 PY 2014 VL 111 IS 5 BP 1981 EP 1986 DI 10.1073/pnas.1324037111 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 302FL UT WOS:000330587600075 PM 24449864 ER PT J AU Skuse, DH Lori, A Cubells, JF Lee, I Conneely, KN Puura, K Lehtimaki, T Binder, EB Young, LJ AF Skuse, David H. Lori, Adriana Cubells, Joseph F. Lee, Irene Conneely, Karen N. Puura, Kaija Lehtimaki, Terho Binder, Elisabeth B. Young, Larry J. TI Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article ID VASOPRESSIN RECEPTOR; SEQUENCE VARIATION; AUTISM; FACE; BEHAVIOR; CHILDREN; BRAIN; POPULATION; ABILITY; HERITABILITY AB The neuropeptides oxytocin and vasopressin are evolutionarily conserved regulators of social perception and behavior. Evidence is building that they are critically involved in the development of social recognition skills within rodent species, primates, and humans. We investigated whether common polymorphisms in the genes encoding the oxytocin and vasopressin 1a receptors influence social memory for faces. Our sample comprised 198 families, from the United Kingdom and Finland, in whom a single child had been diagnosed with high-functioning autism. Previous research has shown that impaired social perception, characteristic of autism, extends to the first-degree relatives of autistic individuals, implying heritable risk. Assessments of face recognition memory, discrimination of facial emotions, and direction of gaze detection were standardized for age (7-60 y) and sex. A common SNP in the oxytocin receptor (rs237887) was strongly associated with recognition memory in combined probands, parents, and siblings after correction for multiple comparisons. Homozygotes for the ancestral A allele had impairments in the range -0.6 to -1.15 SD scores, irrespective of their diagnostic status. Our findings imply that a critical role for the oxytocin system in social recognition has been conserved across perceptual boundaries through evolution, from olfaction in rodents to visual memory in humans. C1 [Skuse, David H.; Lee, Irene] UCL, Inst Child Hlth, London WC1N 1EH, England. [Skuse, David H.] Children Natl Hlth Serv Fdn Trust, Great Ormond St Hosp, Dept Child & Adolescent Mental Hlth, London WC1N 3JH, England. [Lori, Adriana; Cubells, Joseph F.; Conneely, Karen N.; Binder, Elisabeth B.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA. [Young, Larry J.] Emory Univ, Sch Med, Dept Psychiat & Behav Sci, Atlanta, GA 30322 USA. [Puura, Kaija] Fimlab Labs, Dept Child Psychiat, SF-33100 Tampere, Finland. [Lehtimaki, Terho] Univ Tampere, Fimlab Labs, Dept Clin Chem, SF-33101 Tampere, Finland. [Lehtimaki, Terho] Tampere Univ Hosp, SF-33101 Tampere, Finland. [Binder, Elisabeth B.] Max Planck Inst Psychiat, Dept Translat Res Psychiat & Stress Related Disor, D-80804 Munich, Germany. [Young, Larry J.] Emory Univ, Yerkes Natl Primate Res Ctr, Ctr Translat Social Neurosci, Atlanta, GA 30329 USA. RP Skuse, DH (reprint author), UCL, Inst Child Hlth, London WC1N 1EH, England. EM d.skuse@ucl.ac.uk RI Binder, Elisabeth/K-8905-2014 FU National Institutes of Health [MH056897, MH064692, 1P50MH100023]; Nancy Lurie Marks Family Foundation; National Alliance for Autism Research; National Center for Research Resources [P51RR165]; Office of Research Infrastructure Programs [OD P51OD11132] FX We thank Angie Wade, Will Mandy, John Morris, and Kate Lawrence, as well as the many families and children who participated. The main body of work was primarily supported by National Institutes of Health Grants MH056897, MH064692, and 1P50MH100023 (to L.J.Y.) and Nancy Lurie Marks Family Foundation and National Alliance for Autism Research grants (to D.H.S.). Additional support was from National Center for Research Resources Grant P51RR165 to Yerkes National Primate Research Center, currently supported by the Office of Research Infrastructure Programs/OD P51OD11132. 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Natl. Acad. Sci. U. S. A. PD FEB 4 PY 2014 VL 111 IS 5 BP 1987 EP 1992 DI 10.1073/pnas.1302985111 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 302FL UT WOS:000330587600076 PM 24367110 ER PT J AU Barua, S Kuizon, S Chadman, KK Flory, MJ Brown, WT Junaid, MA AF Barua, Subit Kuizon, Salomon Chadman, Kathryn K. Flory, Michael J. Brown, W. Ted Junaid, Mohammed A. TI Single-base resolution of mouse offspring brain methylome reveals epigenome modifications caused by gestational folic acid SO EPIGENETICS & CHROMATIN LA English DT Article ID NEURAL-TUBE DEFECTS; AUTISM SPECTRUM DISORDERS; GENE-BODY METHYLATION; NON-CPG METHYLATION; DNA METHYLATION; DEFICIENCY; EXPRESSION; FOLATE; CELLS; PREGNANCY AB Background: Epigenetic modifications, such as cytosine methylation in CpG-rich regions, regulate multiple functions in mammalian development. Maternal nutrients affecting one-carbon metabolism during gestation can exert long-term effects on the health of the progeny. Using C57BL/6 J mice, we investigated whether the amount of ingested maternal folic acid (FA) during gestation impacted DNA methylation in the offspring's cerebral hemispheres. Reduced representation bisulfite sequencing at single-base resolution was performed to analyze genome-wide DNA methylation profiles. Results: We identified widespread differences in the methylation patterns of CpG and non-CpG sites of key developmental genes, including imprinted and candidate autism susceptibility genes (P <0.05). Such differential methylation of the CpG and non-CpG sites may use different mechanisms to alter gene expressions. Quantitative real time reverse transcription-polymerase chain reaction confirmed altered expression of several genes. Conclusions: These finding demonstrate that high maternal FA during gestation induces substantial alteration in methylation pattern and gene expression of several genes in the cerebral hemispheres of the offspring, and such changes may influence the overall development. Our findings provide a foundation for future studies to explore the influence of gestational FA on genetic/epigenetic susceptibility to altered development and disease in offspring. C1 [Barua, Subit; Kuizon, Salomon; Junaid, Mohammed A.] New York State Inst Basic Res Dev Disabil, Dept Dev Biochem, Staten Isl, NY 10314 USA. [Chadman, Kathryn K.] New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, Staten Isl, NY 10314 USA. [Flory, Michael J.] New York State Inst Basic Res Dev Disabil, Dept Infant Dev, Staten Isl, NY 10314 USA. [Brown, W. Ted] New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA. [Junaid, Mohammed A.] New York State Inst Basic Res Dev Disabil, Struct Neurobiol Lab, Dept Dev Biochem, Staten Isl, NY 10314 USA. RP Junaid, MA (reprint author), New York State Inst Basic Res Dev Disabil, Dept Dev Biochem, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA. EM mohammed.junaid@opwdd.ny.gov FU March of Dimes Research Foundation [12-FY12-170]; New York State Office for People With Developmental Disabilities FX Financial support from the March of Dimes Research Foundation (12-FY12-170) and the New York State Office for People With Developmental Disabilities is gratefully acknowledged. We acknowledge Maureen Marlow for help with editorial corrections with the manuscript. 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Chen, Hongmei Swann, John W. TI Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures SO FRONTIERS IN MOLECULAR NEUROSCIENCE LA English DT Article DE pten; TSC/mTOR; synaptic transmission; akt; excitatory transmission; inhibitory transmission; epilepsy; autism ID TUBEROUS SCLEROSIS COMPLEX; REGULATES NEUROTRANSMITTER RELEASE; VESICULAR GLUTAMATE TRANSPORTER; LHERMITTE-DUCLOS-DISEASE; LONG-TERM DEPRESSION; MOUSE MODEL; MAMMALIAN TARGET; IN-VIVO; RECEPTOR TRAFFICKING; TENSIN HOMOLOG AB The Pten and Tsc1 genes both encode proteins that repress mechanistic target of rapamycin (mTOR) signaling. Disruption of either gene in the brain results in epilepsy and autism-like symptoms in humans and mouse models, therefore it is important to understand the molecular and physiological events that lead from gene disruption to disease phenotypes. Given the similar roles these two molecules play in the regulation of cellular growth and the overlap in the phenotypes that result from their loss, we predicted that the deletion of either the Pten or Tsc1 gene from autaptic hippocampal neurons would have similar effects on neuronal morphology and synaptic transmission. Accordingly, we found that loss of either Pten or Tsc1 caused comparable increases in soma size, dendrite length and action potential properties. However, the effects of Pten and Tsc1 loss on synaptic transmission were different. Loss of Pten lead to an increase in both excitatory and inhibitory neurotransmission, while loss of Tsc1 did not affect excitatory neurotransmission and reduced inhibitory transmission by decreasing mIPSC amplitude. 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This case illustrates the application of a modularized family-based CBT approach with a school-aged boy with autistic disorder and comorbid obsessive-compulsive disorder (OCD). Following 16 family sessions over 21 weeks, "Jerry," a 9-year-old Caucasian male, showed significant reduction in obsessive-compulsive symptoms. Jerry's parents also reported improvements in emotional regulation, participation in school activities, and in his parent-child relationships. This case study illustrates the use of family-based CBT, which has been modified to account for social and behavioral deficits endemic to ASDs, for school-aged youth with autism and comorbid OCD. C1 [Nadeau, Joshua M.; Storch, Eric A.; Lewin, Adam B.] Univ S Florida, Dept Pediat, St Petersburg, FL 33701 USA. [Arnold, Elysse B.] Univ S Florida, St Petersburg, FL 33701 USA. [Lewin, Adam B.] Univ S Florida, Dept Psychol, St Petersburg, FL 33701 USA. [Lewin, Adam B.] Univ S Florida, Dept Psychiat Behav Neurosci, St Petersburg, FL 33701 USA. RP Nadeau, JM (reprint author), Univ S Florida, Rothman Ctr Neuropsychiat, Dept Pediat, 880 6th St South,Box 7523, St Petersburg, FL 33701 USA. 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Case Stud. PD FEB PY 2014 VL 13 IS 1 SI SI BP 22 EP 36 DI 10.1177/1534650113504488 PG 15 WC Psychology, Clinical; Psychiatry SC Psychology; Psychiatry GA AW9OX UT WOS:000346588000003 ER PT J AU Feizi, A Najmi, B Salesi, A Chorami, M Hoveidafar, R AF Feizi, Awat Najmi, Badroddin Salesi, Aseih Chorami, Maryam Hoveidafar, Rezvan TI Parenting stress among mothers of children with different physical, mental, and psychological problems SO JOURNAL OF RESEARCH IN MEDICAL SCIENCES LA English DT Article DE Developmental disability; mental health; parenting stress; physical chronic problem; psychological disorder ID AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL-DISABILITIES; DEPRESSION; HEALTH; ASSOCIATIONS; PREDICTORS; TODDLERS; BEHAVIOR; MIDLIFE; CANCER AB Background: Parents of children with developmental problems are always bearing a load of stress. The aim of this study is to compare the stress in mothers of children with different disabilities to each other, considering their demographic background. Materials and Methods: This was a cross-sectional study conducted in Isfahan, Iran during 2012 on 285 mothers of 6-12 years old children with chronic physical disease, psychological disorder, and sensory-motor and mental problems. Abedin's parenting stress questionnaire was used and obtained data were analyzed using multivariate analysis of variance or covariance as appropriate. Results: Mothers of children with sensory-motor mental and chronic physical problems experience more stress than mothers of children with psychological disorders (P < 0.05). The stress score of mothers of children with psychological disorders was lower than the other two groups. Also there was a significant difference between the score of mothers of children with chronic physical problems and mothers of children with psychological disorders regarding parent-child dysfunctional interaction (P < 0.01). A significant difference was observed in terms of stress among mothers of children with sensory-motor mental problems with different number of children (P < 0.05); also mothers of children with chronic physical problems in different levels of education have experienced different levels of parenting stress (P < 0.05) Conclusion: Due to high level of parenting stress among our studied samples, special education and early intervention are needed for parents in our study population in order to deepening their diagnostic knowledge and professional consultation on stress management C1 [Feizi, Awat] Isfahan Univ Med Sci, Sch Hlth, Dept Biostat & Epidemiol, Esfahan, Iran. [Najmi, Badroddin] Isfahan Univ Med Sci, Noor Med Ctr, Psychol Clin, Esfahan, Iran. [Salesi, Aseih; Chorami, Maryam] Isfahan Univ, Sci & Res Branch Isfahan, Esfahan, Iran. [Hoveidafar, Rezvan] Isfahan Univ, Dept Educ, Esfahan, Iran. RP Najmi, B (reprint author), Noor Med Ctr, Psychol Clin, Esfahan, Iran. 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Res. Med. Sci. PD FEB PY 2014 VL 19 IS 2 BP 145 EP 152 PG 8 WC Medicine, General & Internal SC General & Internal Medicine GA AQ4SI UT WOS:000342789600011 PM 24778669 ER PT J AU Lingo, AS AF Lingo, Amy Shearer TI Tutoring Middle School Students with Disabilities by High School Students: Effects on Oral Reading Fluency SO EDUCATION AND TREATMENT OF CHILDREN LA English DT Article DE Fluency; Repeated Readings; Peer Tutoring ID COMPREHENSION; STRATEGIES; AUTISM; PEERS AB This study evaluated the effectiveness of high school tutors' implementation of Great Leaps Reading (Campbell, 1998), a reading fluency supplementary instructional program. The program consists of three sections: phonics, sight word phrases, and story passages. Daily 15-minute tutoring sessions involved repeated 1-minute timings of oral reading, immediate feedback, and tutee participation in graphing their own fluency data. 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Bloom, Paul TI Children's Preference for Social Stories SO DEVELOPMENTAL PSYCHOLOGY LA English DT Article DE social stories; fiction; development; theory of mind ID FICTION; AUTISM; MIND AB Many scholars have proposed theories to explain the appeal of fictional stories, but relatively little research has examined this issue from a developmental perspective. Here, we investigate the role that social and mental content play in attracting children to stories. In Experiment 1, 4- to 8-year-old children preferred stories that contained people over those that focused on objects. In Experiment 2, children preferred stories with mental content over stories that were described purely in terms of action, while in Experiment 3, children preferred stories with more characters to those with fewer but did not prefer stories that contained mental states embedded in other mental states. No age effects were found. 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PD FEB PY 2014 VL 50 IS 2 BP 498 EP 503 DI 10.1037/a0033613 PG 6 WC Psychology, Developmental SC Psychology GA AM5EF UT WOS:000339878300018 PM 23815703 ER PT J AU Bello, A Sparaci, L Stefanini, S Boria, S Volterra, V Rizzolatti, G AF Bello, Arianna Sparaci, Laura Stefanini, Silvia Boria, Sonia Volterra, Virginia Rizzolatti, Giacomo TI A Developmental Study on Children's Capacity to Ascribe Goals and Intentions to Others SO DEVELOPMENTAL PSYCHOLOGY LA English DT Article DE motor intention; mirror neurons; development; goal understanding ID 6-AND 9-MONTH-OLD INFANTS; WILLIAMS-SYNDROME; ACTION ORGANIZATION; PERCEPTION; OBJECT; IMPAIRMENT; AUTISM AB The capacity to ascribe goals and intentions to others is a fundamental step in child cognitive development. The aim of the present study was to assess the age at which these capabilities are acquired in typically developing children. Two experiments were carried out. In the first experiment, 4 groups of children (age range = 3 years 2 months-7 years 11 months) were shown pictures representing hand-object interactions and asked what the individual was doing (what task) and why (why task). In the why task, observed handgrip could be either congruent with the most typical action performed with that object (e.g., to drink in the case of a mug) or corresponding to the act of putting away the object. In the second experiment, children saw pictures showing a handgrip either within a context suggesting the most typical use of the object or its being put away. Results showed that by 3-4 years, children are able to state the goal relatedness of an observed motor act (what understanding), whereas the ability to report the intention underlying it (why understanding) is a later and gradual acquisition, reaching a high performance by 6-7 years. These results, besides their intrinsic value, provide an important baseline for comparisons with studies on developmental disorders, also highlighting the relevance of distinguishing what and why understanding. C1 [Bello, Arianna; Sparaci, Laura; Stefanini, Silvia; Boria, Sonia; Rizzolatti, Giacomo] Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy. [Sparaci, Laura; Volterra, Virginia] Italian Natl Res Council, Inst Cognit Sci & Technol, Rome, Italy. [Stefanini, Silvia; Boria, Sonia] Azienda Unita Sanit Locale, Local Hlth Unit, Dept Mental Hlth, Parma, Italy. RP Bello, A (reprint author), Univ Parma, Dipartimento Neurosci, Via Volturno 39, I-43100 Parma, Italy. 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Psychol. PD FEB PY 2014 VL 50 IS 2 BP 504 EP 513 DI 10.1037/a0033375 PG 10 WC Psychology, Developmental SC Psychology GA AM5EF UT WOS:000339878300019 PM 23772821 ER PT J AU Boutros, NN Kirollos, SB Pogarell, O Gallinat, J AF Boutros, Nash N. Kirollos, Sandra B. Pogarell, Oliver Gallinat, Juergen TI Predictive Value of Isolated Epileptiform Discharges for a Favorable Therapeutic Response to Antiepileptic Drugs in Nonepileptic Psychiatric Patients SO JOURNAL OF CLINICAL NEUROPHYSIOLOGY LA English DT Article DE Anticonvulsant drugs; Autistic spectrum disorders; Isolated epileptiform discharges; Panic attacks; Violence; Learning disability ID AUTISM SPECTRUM DISORDERS; ATYPICAL PANIC-ATTACKS; EEG ABNORMALITIES; COGNITIVE IMPAIRMENT; AGGRESSIVE-BEHAVIOR; CLINICAL EPILEPSY; SODIUM VALPROATE; OPEN TRIAL; CARBAMAZEPINE; PERSONALITY AB The efficacy of antiepileptic drugs (AEDs) in treating behavioral symptoms in nonepileptic psychiatric patients with abnormal EEGs is currently unknown. Although isolated epileptiform discharges have been reported in many psychiatric conditions, they are most commonly observed in patients with aggression, panic, or autistic spectrum disorders. The literature search was guided by 3 criteria: (1) studies had patients who did not experience seizures, (2) patients had EEGs, and (3) an AED was administered. Most important finding is that the number of "controlled" studies was extremely small. Overall, most reports suggest that the use of an AED can be associated with clinical and, at times, improved EEG abnormalities. Additionally, six controlled studies were found for other psychiatric disorders, such as learning disabilities with similar results. Overall, the use of anticonvulsants to treat nonepileptic psychiatric patients needs further controlled studies to better define indications, adequate EEG work-up, best AED to be used, and optimal durations of treatment attempts. 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Clin. Neurophysiol. PD FEB PY 2014 VL 31 IS 1 BP 21 EP 30 PG 10 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA AJ0OF UT WOS:000337353700003 PM 24492442 ER PT J AU Vurucu, S Karaoglu, A Paksu, SM Oz, O Yaman, H Gulgun, M Babacan, O Unay, B Akin, R AF Vurucu, Sebahattin Karaoglu, Abdulbaki Paksu, Sukru M. Oz, Oguzhan Yaman, Halil Gulgun, Mustafa Babacan, Oguzhan Unay, Bulent Akin, Ridvan TI Breath-Holding Spells May be Associated With Maturational Delay in Myelination of Brain Stem SO JOURNAL OF CLINICAL NEUROPHYSIOLOGY LA English DT Article DE Breath-holding spells; Brain stem auditory evoked potentials; Child ID AUDITORY-EVOKED-POTENTIALS; IRON-DEFICIENCY ANEMIA; SYSTEM; CHILDREN; RESPONSES; CHILDHOOD; INFANCY; AUTISM AB Purpose: To evaluate possible contribution of maturational delay of brain stem in the etiology of breath-holding spells in children using brain stem auditory evoked potentials. Methods: The study group included children who experienced breath-holding spells. The control group consisted of healthy age-and sex-matched children. Age, gender, type and frequency of spell, hemoglobin, and ferritin levels in study group and brain stem auditory evoked potentials results in both groups were recorded. Study group was statistically compared with control group for brain stem auditory evoked potentials. Results: The mean age of study and control groups was 26.3 +/- 14.6 and 28.9 +/- 13.9 months, respectively. The III-V and I-V interpeak latencies were significantly prolonged in the study group compared with the control group (2.07 +/- 0.2 milliseconds; 1.92 +/- 0.13 milliseconds and 4.00 +/- 0.27 milliseconds; 3.83 +/- 0.19 milliseconds; P = 0.009 and P = 0.03, respectively). At the same time, III-V and I-V interpeak latencies of patients without anemia in the study group compared with those of control group were significantly prolonged (2.09 +/- 0.24 milliseconds; 1.92 +/- 0.13 milliseconds and 4.04 +/- 0.28 milliseconds; 3.83 +/- 0.19 milliseconds; P = 0.007 and P = 0.01, respectively). Conclusions: Our results consider that maturational delay in myelination of brain stem may have a role in the etiology of breath-holding spells in children. C1 [Vurucu, Sebahattin; Unay, Bulent; Akin, Ridvan] Gulhane Mil Med Fac, Dept Pediat Neurol, TR-06018 Ankara, Turkey. [Karaoglu, Abdulbaki; Gulgun, Mustafa; Babacan, Oguzhan] Gulhane Mil Med Fac, Dept Pediat, TR-06018 Ankara, Turkey. [Paksu, Sukru M.] Ondokuz Mayis Univ, Dept Pediat, Fac Med, Samsun, Turkey. [Oz, Oguzhan] Gulhane Mil Med Fac, Dept Neurol, TR-06018 Ankara, Turkey. [Yaman, Halil] Gulhane Mil Med Fac, Dept Biochem, TR-06018 Ankara, Turkey. RP Karaoglu, A (reprint author), Gulhane Mil Med Fac, Dept Pediat, TR-06018 Ankara, Turkey. 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Clin. Neurophysiol. PD FEB PY 2014 VL 31 IS 1 BP 99 EP 101 PG 3 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA AJ0OF UT WOS:000337353700014 PM 24492453 ER PT J AU Horder, J Lavender, T Mendez, MA O'Gorman, R Daly, E Craig, MC Lythgoe, DJ Barker, GJ Murphy, DG AF Horder, J. Lavender, T. Mendez, M. A. O'Gorman, R. Daly, E. Craig, M. C. Lythgoe, D. J. Barker, G. J. Murphy, D. G. TI Reduced subcortical glutamate/glutamine in adults with autism spectrum disorders: a [H-1]MRS study (vol 4, e364, 2014) SO TRANSLATIONAL PSYCHIATRY LA English DT Correction C1 [Murphy, D. G.] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev, London WC2R 2LS, England. RI Barker, Gareth/C-9616-2009 OI Barker, Gareth/0000-0002-5214-7421 CR HORDER J, 2014, TRANSLATIONAL PSYCHI, V4, P76560 NR 1 TC 0 Z9 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 2158-3188 J9 TRANSL PSYCHIAT JI Transl. Psychiatr. PD FEB PY 2014 VL 4 AR e364 DI 10.1038/tp.2014.7 PG 1 WC Psychiatry SC Psychiatry GA AJ2RP UT WOS:000337508200009 PM 24548879 ER PT J AU Khan, D Fernando, P Cicvaric, A Berger, A Pollak, A Monje, FJ Pollak, DD AF Khan, D. Fernando, P. Cicvaric, A. Berger, A. Pollak, A. Monje, F. J. Pollak, D. D. TI Long-term effects of maternal immune activation on depression-like behavior in the mouse SO TRANSLATIONAL PSYCHIATRY LA English DT Article DE depression; hippocampal neurogenesis; maternal immune activation; VEGF ID ADULT HIPPOCAMPAL NEUROGENESIS; ENDOTHELIAL GROWTH-FACTOR; PRENATAL EXPOSURE; MOOD DISORDERS; NEUROTROPHIC FACTORS; BRAIN-DEVELOPMENT; ANIMAL-MODELS; RISK-FACTOR; MICE LEADS; SCHIZOPHRENIA AB Depression is a debilitating mental disease affecting a large population worldwide, the pathophysiological mechanisms of which remain incompletely understood. Prenatal infection and associated activation of the maternal immune system (MIA) are prominently related to an increased risk for the development of several psychiatric disorders including schizophrenia and autism in the offsprings. However, the role of MIA in the etiology of depression and its neurobiological basis are insufficiently investigated. Here we induced MIA in mice by challenge with polyinosinic: polycytidylic phosphate salt-a synthetic analog of double-stranded RNA, which enhances maternal levels of the cytokine interleukin-6 (IL-6)-and demonstrate a depression-like behavioral phenotype in adult offsprings. Adult offsprings additionally show deficits in cognition and hippocampal long-term potentiation (LTP) accompanied by disturbed proliferation of newborn cells in the dentate gyrus and compromised neuronal maturation and survival. The behavioral, neurogenic and functional deficiencies observed are associated with reduced hippocampal expression of vascular endothelial growth factor (VEGF)A-VEGFR2. IL-6-STAT3-dependent aberrant VEGFA-VEGFR2 signaling is proposed as neurobiological mechanism mediating the effects of MIA on the developing fetal brain and ensuing consequences in adulthood. C1 [Khan, D.; Fernando, P.; Cicvaric, A.; Monje, F. J.; Pollak, D. D.] Med Univ Vienna, Ctr Physiol & Pharmacol, Dept Neurophysiol & Neuropharmacol, A-1090 Vienna, Austria. [Berger, A.; Pollak, A.] Med Univ Vienna, Dept Pediat & Adolescent Med, A-1090 Vienna, Austria. RP Pollak, DD (reprint author), Med Univ Vienna, Ctr Physiol & Pharmacol, Dept Neurophysiol & Neuropharmacol, Schwarzspanierstr 17, A-1090 Vienna, Austria. EM daniela.pollak@meduniwien.ac.at FU Austrian Science Fund (FWF) [P22424]; Verein zur Foerderung der Forschung auf dem Gebiet der Neonatologie und paediatrischen Intensivmedizin FX DDP is supported by the Austrian Science Fund (FWF): P22424 and member of the special research network (SFB) 35. DK received a fellowship from 'Verein zur Foerderung der Forschung auf dem Gebiet der Neonatologie und paediatrischen Intensivmedizin'. 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RES, V8993 NR 73 TC 6 Z9 6 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 2158-3188 J9 TRANSL PSYCHIAT JI Transl. Psychiatr. PD FEB PY 2014 VL 4 AR e363 DI 10.1038/tp.2013.132 PG 8 WC Psychiatry SC Psychiatry GA AJ2RP UT WOS:000337508200008 PM 24548878 ER PT J AU Rossignol, DA Genuis, SJ Frye, RE AF Rossignol, D. A. Genuis, S. J. Frye, R. E. TI Environmental toxicants and autism spectrum disorders: a systematic review SO TRANSLATIONAL PSYCHIATRY LA English DT Review DE autism; environmental medicine; gene-environment interaction; heavy metals; polymorphisms; toxicants ID PARENTAL OCCUPATIONAL EXPOSURES; DISABILITIES MONITORING NETWORK; DEFICIT HYPERACTIVITY DISORDER; HAZARDOUS AIR-POLLUTANTS; BREAST ADIPOSE-TISSUE; MERCURY BODY-BURDEN; OXIDATIVE STRESS; HEAVY-METALS; BLOOD LEAD; URINARY PORPHYRINS AB Although the involvement of genetic abnormalities in autism spectrum disorders (ASD) is well-accepted, recent studies point to an equal contribution by environmental factors, particularly environmental toxicants. However, these toxicant-related studies in ASD have not been systematically reviewed to date. Therefore, we compiled publications investigating potential associations between environmental toxicants and ASD and arranged these publications into the following three categories: (a) studies examining estimated toxicant exposures in the environment during the preconceptional, gestational and early childhood periods; (b) studies investigating biomarkers of toxicants; and (c) studies examining potential genetic susceptibilities to toxicants. A literature search of nine electronic scientific databases through November 2013 was performed. In the first category examining ASD risk and estimated toxicant exposures in the environment, the majority of studies (34/37; 92%) reported an association. Most of these studies were retrospective case-control, ecological or prospective cohort studies, although a few had weaker study designs (for example, case reports or series). Toxicants implicated in ASD included pesticides, phthalates, polychlorinated biphenyls (PCBs), solvents, toxic waste sites, air pollutants and heavy metals, with the strongest evidence found for air pollutants and pesticides. Gestational exposure to methylmercury (through fish exposure, one study) and childhood exposure to pollutants in water supplies (two studies) were not found to be associated with ASD risk. In the second category of studies investigating biomarkers of toxicants and ASD, a large number was dedicated to examining heavy metals. Such studies demonstrated mixed findings, with only 19 of 40 (47%) case-control studies reporting higher concentrations of heavy metals in blood, urine, hair, brain or teeth of children with ASD compared with controls. Other biomarker studies reported that solvent, phthalate and pesticide levels were associated with ASD, whereas PCB studies were mixed. Seven studies reported a relationship between autism severity and heavy metal biomarkers, suggesting evidence of a dose-effect relationship. Overall, the evidence linking biomarkers of toxicants with ASD (the second category) was weaker compared with the evidence associating estimated exposures to toxicants in the environment and ASD risk (the first category) because many of the biomarker studies contained small sample sizes and the relationships between biomarkers and ASD were inconsistent across studies. Regarding the third category of studies investigating potential genetic susceptibilities to toxicants, 10 unique studies examined polymorphisms in genes associated with increased susceptibilities to toxicants, with 8 studies reporting that such polymorphisms were more common in ASD individuals (or their mothers, 1 study) compared with controls (one study examined multiple polymorphisms). Genes implicated in these studies included paraoxonase (PON1, three of five studies), glutathione S-transferase (GSTM1 and GSTP1, three of four studies), delta-aminolevulinic acid dehydratase (one study), SLC11A3 (one study) and the metal regulatory transcription factor 1 (one of two studies). Notably, many of the reviewed studies had significant limitations, including lack of replication, limited sample sizes, retrospective design, recall and publication biases, inadequate matching of cases and controls, and the use of nonstandard tools to diagnose ASD. The findings of this review suggest that the etiology of ASD may involve, at least in a subset of children, complex interactions between genetic factors and certain environmental toxicants that may act synergistically or in parallel during critical periods of neurodevelopment, in a manner that increases the likelihood of developing ASD. Because of the limitations of many of the reviewed studies, additional high-quality epidemiological studies concerning environmental toxicants and ASD are warranted to confirm and clarify many of these findings. C1 [Rossignol, D. A.] Rossignol Med Ctr, Irvine, CA 92618 USA. [Genuis, S. J.] Univ Alberta, Fac Med, Edmonton, AB, Canada. [Frye, R. E.] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Little Rock, AR 72205 USA. RP Rossignol, DA (reprint author), Rossignol Med Ctr, 16251 Laguna Canyon Rd,Suite 175, Irvine, CA 92618 USA. EM rossignolmd@gmail.com FU Autism Research Institute, San Diego, CA FX This study was supported by a grant from the Autism Research Institute, San Diego, CA. 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Psychiatr. PD FEB PY 2014 VL 4 DI 10.1038/tp.2014.4 PG 23 WC Psychiatry SC Psychiatry GA AJ2RP UT WOS:000337508200005 PM 24518398 ER PT J AU Carbonetto, S Bourgeron, T AF Carbonetto, Salvatore Bourgeron, Thomas TI Introduction: Shankopathies and Related Autism Spectrum Disorders SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Editorial Material C1 [Carbonetto, Salvatore] McGill Univ, Ctr Hlth, Dept Neurol & Neurosurg, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada. [Bourgeron, Thomas] Univ Paris Diderot, Inst Pasteur, CNRS, Human Genet & Cognit Funct Unit,URA 2182, Paris, France. RP Carbonetto, S (reprint author), McGill Univ, Ctr Hlth, Dept Neurol & Neurosurg, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada. EM sal.carbonetto@mgill.ca; thomasb@pasteru.fr NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1932-8451 EI 1932-846X J9 DEV NEUROBIOL JI Dev. Neurobiol. PD FEB PY 2014 VL 74 IS 2 SI SI BP 83 EP 84 DI 10.1002/dneu.22153 PG 2 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA AJ3EA UT WOS:000337547300001 ER PT J AU Carbonetto, S AF Carbonetto, Salvatore TI A Blueprint for Research on Shankopathies: A View From Research on Autism Spectrum Disorder SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Article DE Shank3; autism; synaptic genes; neurodevelopmental disorders ID FRAGILE-X-SYNDROME; POSTSYNAPTIC DENSITY PROTEINS; 22Q13 DELETION SYNDROME; DEPENDENT SYNAPTIC PLASTICITY; MAJOR PSYCHIATRIC-DISORDERS; MESSENGER-RNA TRANSLATION; MGLU5 RECEPTOR ANTAGONIST; PLURIPOTENT STEM-CELLS; LONG-TERM POTENTIATION; COPY NUMBER VARIATION AB Autism spectrum disorders (ASD) are associated with mutations in a host of genes including a number that function in synaptic transmission. Phelan McDermid syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD. We discuss this hypothesis with a view to the broader context of ASD and with special emphasis on highly penetrant genetic disorders including Shankopathies. We propose a blueprint for near and longer-term goals for fundamental and translational research on Shankopathies. (C) 2013 Wiley Periodicals, Inc. C1 McGill Univ, Ctr Hlth, Dept Neurol, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada. RP Carbonetto, S (reprint author), McGill Univ, Ctr Hlth, Dept Neurol, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada. EM sal.carbonetto@mcgill.ca FU CIHR; NSERC FX Contract grant sponsors: CIHR and NSERC. 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10.1126/science.1089071 NR 271 TC 1 Z9 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1932-8451 EI 1932-846X J9 DEV NEUROBIOL JI Dev. Neurobiol. PD FEB PY 2014 VL 74 IS 2 SI SI BP 85 EP 112 DI 10.1002/dneu.22150 PG 28 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA AJ3EA UT WOS:000337547300002 PM 24218108 ER PT J AU Guilmatre, A Huguet, G Delorme, R Bourgeron, T AF Guilmatre, Audrey Huguet, Guillaume Delorme, Richard Bourgeron, Thomas TI The Emerging Role of SHANK Genes in Neuropsychiatric Disorders SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE SHANK; neuropsychiatric disorders; Phelan-McDermid syndrome ID AUTISM SPECTRUM DISORDERS; SCAFFOLDING PROTEIN SHANK3; 22Q13.3 DELETION SYNDROME; POSTSYNAPTIC DENSITY; ALZHEIMERS-DISEASE; DIFFERENTIAL EXPRESSION; MENTAL-RETARDATION; SYNAPTIC PROTEINS; TRANSGENIC MICE; MUTANT MICE AB The genetic heterogeneity of neuropsychiatric disorders is high, but some pathways emerged, notably synaptic functioning. A large number of mutations have been described in genes such as neuroligins, neurexins, and SHANK that play a role in the formation and the maintenance of synapses. This review focuses on the disorders associated with mutations in SHANK3 and the other members of its family, SHANK1 and SHANK2. SHANKs are scaffolding proteins of the postsynaptic density of glutamatergic synapses. SHANK3 has been described in the Phelan-McDermid syndrome (PMS), but also in autism spectrum disorders (ASD) and schizophrenia associated to moderate to severe intellectual disability (ID) and poor language. The evolution of patients with PMS includes symptoms of bipolar disorder and regression. SHANK2 has been identified in patients with ASD with mild to severe ID. SHANK1 has been associated with high-functioning autism in male patients, while carrier females only display anxiety and shyness. Finally, based on neuropathological findings in animal models and patients, a possible role of SHANK in Alzheimer's disease is discussed. Altogether, this review describes the clinical trajectories associated with different mutations of the SHANK genes and provides information to further investigate the role of the SHANK genes in neuropsychiatric disorders. (C) 2013 Wiley Periodicals, Inc. C1 [Guilmatre, Audrey; Huguet, Guillaume; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France. [Guilmatre, Audrey; Huguet, Guillaume; Delorme, Richard; Bourgeron, Thomas] CNRS, Inst Pasteur, URA Genes Synapses & Cognit 2182, F-75700 Paris, France. [Guilmatre, Audrey; Huguet, Guillaume; Delorme, Richard; Bourgeron, Thomas] Univ Paris Diderot, Sorbonne Paris Cite, Paris, France. [Delorme, Richard] Hop Robert Debre, F-75019 Paris, France. RP Bourgeron, T (reprint author), Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France. EM thomasb@pasteur.fr FU ANR [ANR-08-MNPS-037-01-SynGen]; Institut Pasteur; Bettencourt-Schueller Foundation; CNRS; University Paris Diderot; Neuron-ERANET (EUHF-AUTISM); Fondation de France; Conny-Maeva Charitable Foundation; Cognacq Jay Foundation; Orange Foundation; Fondamental Foundation FX Contract grant sponsors: ANR; contract grant number: ANR-08-MNPS-037-01-SynGen.Contract grant sponsors: Institut Pasteur, the Bettencourt-Schueller Foundation, CNRS, University Paris Diderot, Neuron-ERANET (EUHF-AUTISM), the Fondation de France, the Conny-Maeva Charitable Foundation, the Cognacq Jay Foundation, the Orange Foundation, and the Fondamental Foundation. 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Neurobiol. PD FEB PY 2014 VL 74 IS 2 SI SI BP 113 EP 122 DI 10.1002/dneu.22128 PG 10 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA AJ3EA UT WOS:000337547300003 PM 24124131 ER PT J AU Wang, XM Bey, AL Chung, L Krystal, AD Jiang, YH AF Wang, Xiaoming Bey, Alexandra L. Chung, Leeyup Krystal, Andrew D. Jiang, Yong-Hui TI Therapeutic Approaches for Shankopathies SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE autism spectrum disorders; mouse model; SHANK family protein; synapses; brain stimulation ID AUTISM SPECTRUM DISORDERS; TRANSCRANIAL MAGNETIC STIMULATION; FRAGILE-X-SYNDROME; DENDRITIC SPINE MORPHOLOGY; SCAFFOLDING PROTEIN SHANK3; 22Q13.3 DELETION SYNDROME; NEURODEVELOPMENTAL DISORDERS; YOUNG-CHILDREN; DIFFERENTIAL EXPRESSION; CORTICAL INHIBITION AB Despite recent advances in understanding the molecular mechanisms of autism spectrum disorders (ASD), the current treatments for these disorders are mostly focused on behavioral and educational approaches. The considerable clinical and molecular heterogeneity of ASD present a significant challenge to the development of an effective treatment targeting underlying molecular defects. Deficiency of SHANK family genes causing ASD represent an exciting opportunity for developing molecular therapies because of strong genetic evidence for SHANK as causative genes in ASD and the availability of a panel of Shank mutant mouse models. In this article, we review the literature suggesting the potential for developing therapies based on molecular characteristics and discuss several exciting themes that are emerging from studying Shank mutant mice at the molecular level and in terms of synaptic function. (C) 2013 Wiley Periodicals, Inc. C1 [Wang, Xiaoming; Chung, Leeyup; Jiang, Yong-Hui] Duke Univ, Sch Med, Dept Pediat, Durham, NC 27710 USA. [Bey, Alexandra L.; Jiang, Yong-Hui] Duke Univ, Sch Med, Dept Neurobiol, Durham, NC 27710 USA. [Krystal, Andrew D.] Duke Univ, Sch Med, Dept Psychiat & Behav Sci, Durham, NC 27710 USA. RP Jiang, YH (reprint author), Duke Univ, Sch Med, Dept Pediat, Durham, NC 27710 USA. EM yong-hui.jiang@duke.edu RI wang, xiaoming/I-2158-2013 OI wang, xiaoming/0000-0002-7763-690X FU Phelan-McDermid syndrome foundation; Autism Speaks grant; National Institutes of Health [MH098114, 5K12-HD0043494-08] FX Contract grant sponsor: Phelan-McDermid syndrome foundation postdoctoral fellowship.Contract grant sponsors: Autism Speaks grant and National Institutes of Health grant; contract grant number: MH098114.Contract grant sponsor: National Institutes of Health grant; contract grant number: 5K12-HD0043494-08. 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Neurobiol. PD FEB PY 2014 VL 74 IS 2 SI SI BP 123 EP 135 DI 10.1002/dneu.22084 PG 13 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA AJ3EA UT WOS:000337547300004 PM 23536326 ER PT J AU Grabrucker, AM AF Grabrucker, Andreas M. TI A Role for Synaptic Zinc in ProSAP/Shank PSD Scaffold Malformation in Autism Spectrum Disorders SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE Shank3; Shank2; Phelan McDermid Syndrome; 22q13; Zn2+ ID POSTSYNAPTIC DENSITY PROTEINS; 22Q13 DELETION SYNDROME; LONG-TERM POTENTIATION; COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; GENE-EXPRESSION; METALLOTHIONEIN-III; SAM DOMAIN; BRAIN; SYNAPSES AB The establishment and maintenance of synaptic contacts as well as synaptic plasticity are crucial factors for normal brain function. The functional properties of a synapse are largely dependent on the molecular setup of synaptic proteins. Multidomain proteins of the ProSAP/Shank family act as major organizing scaffolding elements of the postsynaptic density (PSD). Interestingly, ProSAP/Shank proteins at glutamatergic synapses have been linked to a variety of Autism Spectrum Disorders (ASDs) including Phelan McDermid Syndrome, and deregulation of ProSAP/Shank has been reported in Alzheimer's disease. Although the precise molecular mechanism of the dysfunction of these proteins remains unclear, an emerging model is that mutations or deletions impair neuronal circuitry by disrupting the formation, plasticity and maturation of glutamatergic synapses. Several PSD proteins associated with ASDs are part of a complex centered around ProSAP/Shank proteins and many ProSAP/Shank interaction partners play a role in signaling within dendritic spines. Interfering with any one of the members of this signaling complex might change the output and drive the system towards synaptic dysfunction. Based on recent data, it is possible that the concerted action of ProSAP/Shank and Zn2+ is essential for the structural integrity of the PSD. This interplay might regulate postsynaptic receptor composition, but also transsynaptic signaling. It might be possible that environmental factors like nutritional Zn2+ status or metal ion homeostasis in general intersect with this distinct pathway centered around ProSAP/Shank proteins and the deregulation of any of these two factors may lead to ASDs. (C) 2013 Wiley Periodicals, Inc. C1 [Grabrucker, Andreas M.] Univ Ulm, Neuroctr, Dept Neurol, WG Mol Anal Synaptopathies, D-89069 Ulm, Germany. [Grabrucker, Andreas M.] Univ Ulm, Inst Anat & Cell Biol, D-89069 Ulm, Germany. RP Grabrucker, AM (reprint author), Univ Ulm, Neuroctr, Dept Neurol, WG Mol Anal Synaptopathies, D-89069 Ulm, Germany. EM andreas.grabrucker@uni-ulm.de FU Baustein 3.2 [L.SBN.0083]; DAAD FX AMG is supported by Baustein 3.2 (L.SBN.0083) and the DAAD. 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TI Increasing our Understanding of Human Cognition Through the Study of Fragile X Syndrome SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE Fragile X Syndrome; cognition; FMRP; synapses; connectivity; local protein synthesis; plasticity; FXR1P; FXR2P ID MENTAL-RETARDATION PROTEIN; LONG-TERM DEPRESSION; FMR1 KNOCKOUT MICE; METABOTROPIC GLUTAMATE RECEPTORS; RNA-BINDING PROTEIN; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; SYNDROME MOUSE MODEL; TRANSLATIONAL REGULATORY MECHANISMS; HIPPOCAMPAL SYNAPTIC PLASTICITY AB Fragile X Syndrome (FXS) is considered the most common form of inherited intellectual disability. It is caused by reductions in the expression level or function of a single protein, the Fragile X Mental Retardation Protein (FMRP), a translational regulator which binds to approximately 4% of brain messenger RNAs. Accumulating evidence suggests that FXS is a complex disorder of cognition, involving interactions between genetic and environmental influences, leading to difficulties in acquiring key life skills including motor skills, language, and proper social behaviors. Since many FXS patients also present with one or more features of autism spectrum disorders (ASDs), insights gained from studying the monogenic basis of FXS could pave the way to a greater understanding of underlying features of multigenic ASDs. Here we present an overview of the FXS and FMRP field with the goal of demonstrating how loss of a single protein involved in translational control affects multiple stages of brain development and leads to debilitating consequences on human cognition. We also focus on studies which have rescued or improved FXS symptoms in mice using genetic or therapeutic approaches to reduce protein expression. We end with a brief description of how deficits in translational control are implicated in FXS and certain cases of ASDs, with many recent studies demonstrating that ASDs are likely caused by increases or decreases in the levels of certain key synaptic proteins. The study of FXS and its underlying single genetic cause offers an invaluable opportunity to study how a single gene influences brain development and behavior. (C) 2013 Wiley Periodicals, Inc. C1 [Cook, Denise; Nuro, Erin; Murai, Keith K.] McGill Univ, Montreal Gen Hosp, Dept Neurol & Neurosurg, Res Inst,Hlth Ctr,Ctr Res Neurosci, Montreal, PQ, Canada. RP Murai, KK (reprint author), McGill Univ, Montreal Gen Hosp, Dept Neurol & Neurosurg, Res Inst,Hlth Ctr,Ctr Res Neurosci, Montreal, PQ, Canada. EM keith.murai@mcgill.ca FU Canadian Institutes of Health Research [MOP 67148/123390]; Canada Research Chairs Program; National Institutes of Health (U.S.A.) [1R21DA026053-01]; Frederick Banting and Charles Best CIHR Doctoral Research Award; FRSQ; McGill University Integrated Program in Neuroscience Returning Student Award FX Contract grant sponsor: Canadian Institutes of Health Research; contract grant number: MOP 67148/123390 (to K. K. M.).Contract grant sponsor: Canada Research Chairs Program (to K. K. M).Contract grant sponsor: National Institutes of Health; contract grant number: 1R21DA026053-01 (U.S.A.) (to K. K. M. and D. C.).Contract grant sponsor: Frederick Banting and Charles Best CIHR Doctoral Research Award and an FRSQ Doctoral Award (to D. C.).Contract grant sponsor: McGill University Integrated Program in Neuroscience Returning Student Award (to E.N.). 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Neurobiol. PD FEB PY 2014 VL 74 IS 2 SI SI BP 147 EP 177 DI 10.1002/dneu.22096 PG 31 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA AJ3EA UT WOS:000337547300006 PM 23723176 ER PT J AU Verpelli, C Galimberti, I Gomez-Mancilla, B Sala, C AF Verpelli, Chiara Galimberti, Ivan Gomez-Mancilla, Baltazar Sala, Carlo TI Molecular Basis for Prospective Pharmacological Treatment Strategies in Intellectual Disability Syndromes SO DEVELOPMENTAL NEUROBIOLOGY LA English DT Review DE synapses; intellectual disability; autism ID LINKED MENTAL-RETARDATION; FRAGILE-X-SYNDROME; ACCESSORY PROTEIN-LIKE; EXCITATORY SYNAPSE FORMATION; AUTISM SPECTRUM DISORDERS; MOUSE MODEL; RETT-SYNDROME; ANGELMAN SYNDROME; MESSENGER-RNA; AMPA RECEPTOR AB A number of mutated genes that code for proteins concerned with brain synapse function and circuit formation have been identified in patients affected by intellectual disability (ID) syndromes over the past 15 years. These genes are involved in synapse formation and plasticity, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton, the synthesis and degradation of specific synapse proteins, and the control of correct balance between excitatory and inhibitory synapses. In most of the cases, even mild alterations in synapse morphology, function, and balance give rise to mild or severe IDs. These studies provided a rationale for the development of pharmacological agents that are able to counteract functional synaptic anomalies and potentially improve the symptoms of some of these conditions. This review summarizes recent findings on the functions of some of the genes responsible for ID syndromes and some of the new potential pharmacological treatments for these diseases. (C) 2013 Wiley Periodicals, Inc. C1 [Verpelli, Chiara; Sala, Carlo] Univ Milan, Dept Biotechnol & Translat Med, CNR Inst Neurosci, Milan, Italy. [Galimberti, Ivan; Gomez-Mancilla, Baltazar] Novartis Pharma AG, NIBR, CH-4002 Basel, Switzerland. [Sala, Carlo] Besta Fdn Neurol Inst, Milan, Italy. RP Sala, C (reprint author), Univ Milan, Dept Biotechnol & Translat Med, CNR Inst Neurosci, Milan, Italy. EM c.sala@in.cnr.it RI Sala, Carlo/A-2493-2009 OI Sala, Carlo/0000-0003-0662-9523 FU Telethon, Italy [GGP11095] FX Contract grant sponsor: Telethon, Italy; contract grant number: GGP11095. 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Neurobiol. PD FEB PY 2014 VL 74 IS 2 SI SI BP 197 EP 206 DI 10.1002/dneu.22093 PG 10 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA AJ3EA UT WOS:000337547300008 PM 23695997 ER PT J AU Herlihy, LE Brooks, B Dumont-Mathieu, T Barton, ML Fein, D Chen, CM Robins, DL AF Herlihy, Lauren E. Brooks, Bianca Dumont-Mathieu, Thyde Barton, Marianne L. Fein, Deborah Chen, Chi-Ming Robins, Diana L. TI Standardized Screening Facilitates Timely Diagnosis of Autism Spectrum Disorders in a Diverse Sample of Low-Risk Toddlers SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Article DE M-CHAT; autism screening; socioeconomic status ID PERVASIVE DEVELOPMENTAL DISORDERS; MODIFIED CHECKLIST; CHILDREN; DISPARITIES; HEALTH AB Objective: Routine, standardized screening for autism spectrum disorder (ASD) has been hypothesized to reduce known racial/ethnic and socioeconomic status (SES) disparities in age of first diagnosis. This study explored demographic differences in toddlers' age and performance on developmental measures at the time of ASD assessment. Method: Toddlers (16-39 months at evaluation) who screened at-risk for developmental delay on the Modified Checklist for Autism in Toddlers (M-CHAT) or M-CHAT-Revised (M-CHAT-R) and follow-up interview participated in a diagnostic assessment. Of these, 44.7% were racial/ethnic minorities and 53.5% were non-minorities. Child race/ethnicity, years of maternal education (MEd), and household yearly income (YI) were parent-reported. Results: Small but significant correlations were observed between MEd or YI and evaluation age and adaptive communication, socialization, and motor scores. Controlling for MEd and YI, minority racial/ethnic group did not predict child's performance on most measures and did not predict likelihood of ASD diagnosis. Differences in age at evaluation and receptive language skills were small effects. Conclusion: Significant but small effects emerged for SES and minority status on toddlers' age at evaluation and parent-reported adaptive skills, but these did not predict ASD diagnosis. The small magnitude of these effects suggests that routine, standardized screening for ASD in toddlers and timely access to diagnostic evaluation can reduce disparities in age at diagnosis and possibly reduce racial/ethnic disparities in access to services for ASD and other developmental delays. C1 [Herlihy, Lauren E.; Dumont-Mathieu, Thyde; Barton, Marianne L.; Fein, Deborah; Chen, Chi-Ming] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA. [Brooks, Bianca; Robins, Diana L.] Georgia State Univ, Dept Clin Psychol, Atlanta, GA 30303 USA. [Brooks, Bianca; Robins, Diana L.] Georgia State Univ, Dept Neurosci, Atlanta, GA 30303 USA. RP Herlihy, LE (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd,Unit 1020, Storrs, CT 06269 USA. EM lauren.herlihy@uconn.edu FU National Institutes of Health (NIH) [HD39961, F31 MH12550, R40 MC00270]; Department of Education; National Alliance for Autism Research; CDC-GSU FX D.L. Robins is co-owner of M-CHAT LLC, which licenses use of the M-CHAT in electronic products. Data used in the current study were collected using the free version of the M-CHAT and no royalties are associated with this study. M. L. Barton and D. Fein are co-owners of the M-CHAT LLC, and donate their proceeds to the University Foundation and Psychological Services Clinic. The remaining authors declare no conflict of interest. This study is supported by current National Institutes of Health (NIH) Grant HD39961, past NIH Grants F31 MH12550 and R40 MC00270, past grants from the Department of Education, the National Alliance for Autism Research, and CDC-GSU. 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PD FEB-MAR PY 2014 VL 35 IS 2 BP 162 EP 162 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800068 ER PT J AU Bickel, JO Bridgemohan, C Huntington, NL AF Bickel, Julie O. Bridgemohan, Carolyn Huntington, Noelle L. TI Child and Family Characteristics Associated with Age of Diagnosis of an Autism Spectrum Disorder in a Tertiary Care Setting SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Bickel, Julie O.; Bridgemohan, Carolyn; Huntington, Noelle L.] Boston Childrens Hosp, Div Dev Med, Boston, MA USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 68 BP S14 EP S14 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800052 ER PT J AU Brandt, EA Mathews, K Buckingham, ET Pelzel, K Lindgren, S Mraz, R AF Brandt, Emily A. Mathews, Katherine Buckingham, Edward T. Pelzel, Kelly Lindgren, Scott Mraz, Royann TI Prevalence of Autism Spectrum Disorders and Obsessive Compulsive Disorder in Males with Duchenne and Becker Muscular Dystrophies SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Brandt, Emily A.; Pelzel, Kelly] Univ Iowa Hosp & Clin, Iowa City, IA 52242 USA. [Mathews, Katherine; Buckingham, Edward T.; Lindgren, Scott] Univ Iowa, Carver Coll Med, Iowa City, IA USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 4 BP S2 EP S2 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800005 ER PT J AU Choueiri, R Brodsky, L Nelson, J Wagner, S AF Choueiri, Roula Brodsky, Lauren Nelson, Jason Wagner, Sheldon TI The Rapid Interactive Test for Autism in Toddlers (RITA-T): a New Level 2 Autism Spectrum Disorder (ASD) Screening Test in Toddlers SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Choueiri, Roula] Floating Hosp Children, Tufts Med Sch, Boston, MA USA. [Brodsky, Lauren] Floating Hosp Children, Boston, MA USA. [Nelson, Jason] Tufts Med Ctr, Inst Clin Res & Hlth Policy, Boston, MA USA. [Wagner, Sheldon] BDES, Lexington, MA USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 2 BP S1 EP S1 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800002 ER PT J AU Harstad, E Fogler, J Weas, S Barbaresi, W AF Harstad, Elizabeth Fogler, Jason Weas, Sarah Barbaresi, William TI Comparing the Diagnostic Outcome of Autism Spectrum Disorder using Concurrently Collected DSM-IV-TR and Proposed DSM-5 Criteria SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Harstad, Elizabeth; Fogler, Jason; Weas, Sarah; Barbaresi, William] Boston Childrens Hosp, Div Dev Med, Boston, MA USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 31 BP S8 EP S9 PG 2 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800032 ER PT J AU Lindly, O Sinche, B Zuckerman, KE AF Lindly, Olivia Sinche, Brianna Zuckerman, Katharine E. TI School Support for US Children with Autism Spectrum Disorder or Other Developmental Conditions: Associations with Socio-Demographic Factors, Health Services Utilization and Quality SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Lindly, Olivia; Sinche, Brianna; Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 38 BP S9 EP S9 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800034 ER PT J AU Mathews, TL Chris, V Lugo, A Keonig, E AF Mathews, Therese L. Chris, Vatland Lugo, Ashley Keonig, Elizabeth TI Effectiveness of a Peer Model Education Curriculum in Training Peer Models to Teach Social Skills to Children with Autism Spectrum Disorders SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Mathews, Therese L.; Chris, Vatland; Lugo, Ashley; Keonig, Elizabeth] Munroe Meyer Inst, Omaha, NE USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 3 BP S1 EP S1 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800003 ER PT J AU Morgan, S Meryash, D AF Morgan, Sarah Meryash, David TI Parent versus Teacher Ratings of Core and Associated Behaviors of Autism Spectrum Disorder in Preschoolers SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Morgan, Sarah] Princeton Univ, Princeton, NJ 08544 USA. [Meryash, David] Cohen Childrens Med Ctr, Lake Success, NY USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 25 BP S7 EP S7 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800026 ER PT J AU Narayanan, AR Coury, D Steingass, K AF Narayanan, Anita R. Coury, Daniel Steingass, Katherine TI Factors Associated with the Later Age of Diagnosis of Autism in Children with Down Syndrome SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Narayanan, Anita R.; Coury, Daniel; Steingass, Katherine] Nationwide Childrens Hosp, Columbus, OH USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 43 BP S10 EP S10 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800037 ER PT J AU Reyes, C Frazier, T Embacher, R Worley, S AF Reyes, Charina Frazier, Thomas Embacher, Rebecca Worley, Sarah TI Quality of Life Measures in Families with Children with Autism Spectrum Disorder SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Reyes, Charina] Cleveland Clin, Cleveland, OH 44106 USA. [Frazier, Thomas; Embacher, Rebecca] Cleveland Clin, Ctr Autism, Cleveland, OH 44106 USA. [Worley, Sarah] Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44106 USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 41 BP S9 EP S9 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800035 ER PT J AU Sobotka, SA Francis, A Booth, KV AF Sobotka, Sarah A. Francis, Amy Booth, Karin Vander Ploeg TI Care Coordination for Children with Autism Spectrum Disorder SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Sobotka, Sarah A.; Francis, Amy; Booth, Karin Vander Ploeg] Univ Chicago, Chicago, IL 60637 USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 34 BP S9 EP S9 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800033 ER PT J AU Solomon, R AF Solomon, Richard TI PLAY Project Intervention for Autism: A Randomized Controlled Trial SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Solomon, Richard] Ann Arbor Ctr DBP, Ann Arbor, MI USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 44 BP S10 EP S10 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800038 ER PT J AU Zuckerman, KE Lindly, O Sinche, B Bethell, C AF Zuckerman, Katharine E. Lindly, Olivia Sinche, Brianna Bethell, Christina TI Parent Health Beliefs, Child Health Services Utilization, and Child Health Care Quality among US Children with Autism and other Developmental Disorders SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Zuckerman, Katharine E.; Lindly, Olivia; Sinche, Brianna; Bethell, Christina] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 5 BP S2 EP S2 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800006 ER PT J AU Zuckerman, KE Lindly, O Sinche, B Bethell, C AF Zuckerman, Katharine E. Lindly, Olivia Sinche, Brianna Bethell, Christina TI Parent Developmental Concerns, Provider Response to Concerns, and Delays in Diagnosis for Children with Autism and other Developmental Disorders SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS LA English DT Meeting Abstract C1 [Zuckerman, Katharine E.; Lindly, Olivia; Sinche, Brianna; Bethell, Christina] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. NR 0 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 FEB-MAR PY 2014 VL 35 IS 2 MA 1 BP S1 EP S1 PG 1 WC Behavioral Sciences; Psychology, Developmental; Pediatrics SC Behavioral Sciences; Psychology; Pediatrics GA AI4QL UT WOS:000336849800004 ER PT J AU Dadds, MR Moul, C Cauchi, A Dobson-Stone, C Hawes, DJ Brennan, J Urwin, R Ebstein, RE AF Dadds, Mark R. Moul, Caroline Cauchi, Avril Dobson-Stone, Carol Hawes, David J. Brennan, John Urwin, Ruth Ebstein, Richard E. TI Polymorphisms in the oxytocin receptor gene are associated with the development of psychopathy SO DEVELOPMENT AND PSYCHOPATHOLOGY LA English DT Article ID CALLOUS-UNEMOTIONAL TRAITS; GENOME-WIDE ASSOCIATION; CONDUCT PROBLEMS; PSYCHIATRIC-DISORDERS; OXTR POLYMORPHISMS; JAPANESE POPULATION; ANTISOCIAL-BEHAVIOR; 5-HTT GENES; AUTISM; CHILDHOOD AB The co-occurrence of child conduct problems (CPs) and callous-unemotional (CU) traits confers risk for psychopathy. The oxytocin (OXT) system is a likely candidate for involvement in the development of psychopathy. We tested variations in the OXT receptor gene (OXTR) in CP children and adolescents with varying levels of CU traits. Two samples of Caucasian children, aged 4-16 years, who met DSM criteria for disruptive behavior problems and had no features of autism spectrum disorder, were stratified into low versus high CU traits. Measures were the frequencies of nine candidate OXTR polymorphisms (single nucleotide polymorphisms). In Sample 1, high CU traits were associated with single nucleotide polymorphism rs1042778 in the 3 untranslated region of OXTR and the CGCT haplotype of rs2268490, rs2254298, rs237889, and rs13316193. The association of rs1042778 was replicated in the second rural sample and held across gender and child versus adolescent age groups. We conclude that polymorphic variation of the OXTR characterizes children with high levels of CU traits and CPs. The results are consistent with a hypothesized role of OXT in the developmental antecedents of psychopathy, particularly the differential amygdala activation model of psychopathic traits, and add genetic evidence that high CU traits specify a distinct subgroup within CP children. C1 [Dadds, Mark R.; Moul, Caroline; Cauchi, Avril; Dobson-Stone, Carol] Univ New S Wales, Sydney, NSW 2052, Australia. 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Evidence suggests that epigenetic changes in the OXT receptor gene (OXTR) are associated with lower circulating OXT and social-cognitive difficulties. We tested methylation levels of OXTR in 4- to 16-year-old males who met DSM criteria for a diagnosis of oppositional-defiant or conduct disorder and were stratified by CU traits and age. Measures were DNA methylation levels of six CpG sites in the promoter region of the OXTR gene (where a CpG site is a cytosine nucleotide occurs next to a guanine nucleotide in the linear sequence of bases along its lenth, linked together by phosphate binding), and OXT blood levels. High CU traits were associated with greater methylation of the OXTR gene for two cytosine nucleotide and guanine nucleotide phosphate linked sites and lower circulating OXT in older males. Higher methylation correlated with lower OXT levels. We conclude that greater methylation of OXTR characterizes adolescent males with high levels of CU and CPs, and this methylation is associated with lower circulating OXT and functional impairment in interpersonal empathy. The results add genetic evidence that high CU traits specify a distinct subgroup within CP children, and they suggest models of psychopathy may be informed by further identification of these epigenetic processes and their functional significance. C1 [Dadds, Mark R.; Moul, Caroline; Cauchi, Avril; Dobson-Stone, Carol] Univ New S Wales, Sydney, NSW 2052, Australia. [Hawes, David J.] Univ Sydney, Sydney, NSW 2006, Australia. [Brennan, John] Sydney Childrens Hosp, Sydney, NSW, Australia. [Ebstein, Richard E.] Natl Univ Singapore, Singapore 117548, Singapore. RP Dadds, MR (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia. 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Psychopathol. PD FEB PY 2014 VL 26 IS 1 BP 245 EP 273 DI 10.1017/S0954579413000527 PG 29 WC Psychology, Developmental SC Psychology GA AD0UV UT WOS:000332950500017 PM 24073742 ER PT J AU Roy, A Shepherd, SV Platt, ML AF Roy, Arani Shepherd, Stephen V. Platt, Michael L. TI Reversible inactivation of pSTS suppresses social gaze following in the macaque (Macaca mulatta) SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE LA English DT Article DE gaze following; joint attention; superior temporal sulcus; face-selective neurons; autism ID SUPERIOR TEMPORAL SULCUS; EYE GAZE; PARIETAL CORTEX; JOINT ATTENTION; MONKEYS; AUTISM; DIRECTION; AMYGDALA; PERCEPTION; SYSTEM AB Humans and other primates shift their attention to follow the gaze of others [gaze following (GF)]. This behavior is a foundational component of joint attention, which is severely disrupted in neurodevelopmental disorders such as autism and schizophrenia. Both cortical and subcortical pathways have been implicated in GF, but their contributions remain largely untested. While the proposed subcortical pathway hinges crucially on the amygdala, the cortical pathway is thought to require perceptual processing by a region in the posterior superior temporal sulcus (pSTS). To determine whether pSTS is necessary for typical GF behavior, we engaged rhesus macaques in a reward discrimination task confounded by leftward-and rightward-facing social distractors following saline or muscimol injections into left pSTS. We found that reversible inactivation of left pSTS with muscimol strongly suppressed GF, as assessed by reduced influence of observed gaze on target choices and saccadic reaction times. These findings demonstrate that activity in pSTS is required for normal GF by primates. C1 [Roy, Arani; Shepherd, Stephen V.; Platt, Michael L.] Duke Univ, Dept Neurobiol, Durham, NC 27710 USA. 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RP Chuthapisith, J (reprint author), Ramathibodi Hosp, Dept Pediat, Div Dev & Behav Pediat, Rama 6 Rd, Bangkok 10400, Thailand. EM kositprapa@hotmail.com FU Faculty of Medicine, Ramathibodi Hospital, Bangkok, Thailand FX This study was conducted with the financial support of the Faculty of Medicine, Ramathibodi Hospital, Bangkok, Thailand. We gratefully acknowledge Dr Bishop for giving permission to use the CCC in the current study. We gratefully acknowledge the contributions of Miss Suparat Ditbanjong for assistance with statistical analysis; Miss Sauwanee Thaowan, clinical psychologist; Miss Ponjit Jithavech, Department of Communication Sciences and Disorders; Dr Theeraporn Ratitamkul, Department of Linguistics, Faculty of Arts, Chulalongkorn University and Dr Unchalee Lodin for assistance with the manuscript. This study would not have been possible without the support of the families and children who donated their time to participate in this study. 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PD FEB PY 2014 VL 56 IS 1 BP 31 EP 34 PG 4 WC Pediatrics SC Pediatrics GA AA8UF UT WOS:000331369800006 PM 24003938 ER PT J AU Mehta, D Iwamoto, K Ueda, J Bundo, M Adati, N Kojima, T Kato, T AF Mehta, Divya Iwamoto, Kazuya Ueda, Junko Bundo, Miki Adati, Naoki Kojima, Toshio Kato, Tadafumi TI Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology SO NEUROSCIENCE RESEARCH LA English DT Article DE Copy number variation (CNV); Human post-mortem brains; Schizophrenia; Bipolar disorder; Transcriptome; Genomics ID COPY-NUMBER VARIATION; PSYCHIATRIC-DISORDERS; STRUCTURAL VARIATION; BIPOLAR DISORDER; INCREASE RISK; HUMAN-DISEASE; SCHIZOPHRENIA; ASSOCIATION; AUTISM; GENOME AB Copy number variations (CNVs) contribute to neuropsychiatric diseases, which may be partly mediated by their effects on gene expression. However, few studies have assessed the influence of CNVs on gene expression in the brain. The objective was to perform an unbiased comprehensive survey of influence of CNVs on gene expression in human brain tissues. CNV regions (CNVRs) were identified in 72 individuals (23 schizophrenia, 23 bipolar disorder and 26 controls). Significant associations between the CNVRs and gene expression levels were observed for 583 CNVR-expression probe pairs (293 unique eCNVRs and 429 unique transcripts), after corrections for multiple testing and controlling the effect of the number of subjects with CNVRs by label swapping permutations. These CNVRs affecting gene expression (eCNVRs) were significantly enriched for rare/low frequency (p = 1.087 x 10(-10)) and gene-harboring CNVRs (p = 1.4 x 10(-6)). Transcripts overlapping CNVRs were significantly enriched for glutathione metabolism and oxidative stress only for cases but not for controls. Moreover, 72 (24.6%) of eCNVRs were located within the chromosomal aberration regions implicated in psychiatric-disorders: 16p11.2, 1q21.1, 22q11.2, 3q29, 15q11.2, 17q12 and 16p13.1. These results shed light on the mechanism of how CNVs confer a risk for psychiatric disorders. (C) 2013 The Authors. Published by Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved. C1 [Mehta, Divya] Max Planck Inst Psychiat, D-80804 Munich, Germany. [Mehta, Divya; Ueda, Junko; Kato, Tadafumi] RIKEN, Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, Japan. [Iwamoto, Kazuya; Bundo, Miki] Univ Tokyo, Grad Sch Med, Dept Mol Psychiat, Tokyo 1138654, Japan. [Adati, Naoki; Kojima, Toshio] RIKEN, Genom Sci Ctr, Comparat Syst Biol Team, Yokohama, Kanagawa 2300045, Japan. RP Kato, T (reprint author), RIKEN, Brain Sci Inst, Lab Mol Dynam Mental Disorders, Hirosawa 2-1, Wako, Saitama 3510198, Japan. EM kato@brain.riken.jp RI Kato, Tadafumi/J-3583-2014 OI Kato, Tadafumi/0000-0001-7856-3952 FU Ministry of Education, Science, Sports and Culture of Japan; Ministry of Health, Labour and Welfare; CREST from the Japan Science and Technology Agency FX This study is supported by a Grant-in-aid for Scientific Research on Innovative Areas (Comprehensive Brain Science Network) from the Ministry of Education, Science, Sports and Culture of Japan, Grant-in-aid from Ministry of Health, Labour and Welfare, and CREST from the Japan Science and Technology Agency. 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Res. PD FEB PY 2014 VL 79 BP 22 EP 33 DI 10.1016/j.neures.2013.10.009 PG 12 WC Neurosciences SC Neurosciences & Neurology GA AE5CG UT WOS:000334004800003 PM 24211644 ER PT J AU Luk, HM Wong, VCH Lo, IFM Chan, KYK Lau, ET Kan, ASY Tang, MHY Tang, WF She, WMK Chu, YWY Sin, WK Chung, BHY AF Luk, H. M. Wong, Vincent C. H. Lo, Ivan F. M. Chan, Kelvin Y. K. Lau, Elizabeth T. Kan, Anita S. Y. Tang, Mary H. Y. Tang, W. F. She, Wandy M. K. Chu, Yoyo W. Y. Sin, W. K. Chung, Brian H. Y. TI A prenatal case of split-hand malformation associated with 17p13.3 triplication - A dilemma in genetic counseling SO EUROPEAN JOURNAL OF MEDICAL GENETICS LA English DT Article DE 17p13.3 copy number gain; Split hand malformation; Developmental delay; Autism; Prenatal diagnosis ID HAND/FOOT MALFORMATION; MICRODUPLICATIONS; SHFLD AB Copy number gain of 17p13.3 has been shown to be associated with developmental delay/autism and Split-Hand-Foot malformation. We report a case of fetus with bilateral split-hand malformation detected on prenatal ultrasound. Array comparative genomic hybridization detected 2 maternally inherited copy number gains in the 17p13.3 region with one of them involving the BHLHA9 gene and part of the YWHAE gene. The mother is normal in intelligence with mild right foot anomaly only. Although the BHLHA9 copy gain is known to be associated with split-hand-foot malformation, the penetrance and expressivity is highly variable. More challenging is the effect of partial YWHAE copy number gain on neurodevelopment is inconclusive based on current literature. This case highlights the difficulties of prenatal genetic counseling in array comparative genomic hybridization findings in clinical situation with incomplete understanding of genotype-phenotype correlation. (C) 2013 Elsevier Masson SAS. All rights reserved. C1 [Luk, H. M.; Lo, Ivan F. M.] Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China. [Wong, Vincent C. H.; She, Wandy M. K.; Chu, Yoyo W. Y.; Chung, Brian H. Y.] Univ Hong Kong, Li Ka Shing Fac Med, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China. [Chan, Kelvin Y. K.; Lau, Elizabeth T.; Kan, Anita S. Y.; Tang, W. F.; Chung, Brian H. Y.] Univ Hong Kong, Li Ka Shing Fac Med, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China. [Chan, Kelvin Y. K.; Lau, Elizabeth T.; Tang, Mary H. Y.] Tsan Yuk Hosp, Prenatal Diagnost & Counseling Dept, Hong Kong, Hong Kong, Peoples R China. [Kan, Anita S. Y.] Queen Mary Hosp, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China. [Sin, W. K.] Tuen Mun Hosp, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China. RP Chung, BHY (reprint author), Univ Hong Kong, Li Ka Shing Fac Med, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China. EM bhychung@hku.hk FU SK Yee Medical Research Fund; SK Yee Medical Foundation, Hong Kong FX SK Yee Medical Research Fund & SK Yee Medical Foundation, Hong Kong. CR Armour CM, 2011, EUR J HUM GENET, V19, P1144, DOI 10.1038/ejhg.2011.97 Bi WM, 2009, NAT GENET, V41, P168, DOI 10.1038/ng.302 Bruno DL, 2010, J MED GENET, V47, P299, DOI 10.1136/jmg.2009.069906 Ho ACC, 2012, EUR J MED GENET, V55, P758, DOI 10.1016/j.ejmg.2012.09.011 Klopocki E, 2012, J MED GENET, V49, P119, DOI 10.1136/jmedgenet-2011-100409 Lezirovitz K, 2008, HUM GENET, V123, P625, DOI 10.1007/s00439-008-0515-7 Miller DT, 2010, AM J HUM GENET, V86, P749, DOI 10.1016/j.ajhg.2010.04.006 NR 7 TC 1 Z9 1 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 1769-7212 EI 1878-0849 J9 EUR J MED GENET JI Eur. J. Med. Genet. PD FEB PY 2014 VL 57 IS 2-3 BP 81 EP 84 DI 10.1016/j.ejmg.2013.12.005 PG 4 WC Genetics & Heredity SC Genetics & Heredity GA AE2OT UT WOS:000333813500006 PM 24380768 ER PT J AU Jiang, YV Capistrano, CG Palm, BE AF Jiang, Yuhong V. Capistrano, Christian G. Palm, Bryce E. TI Spatial Working Memory in Children With High-Functioning Autism: Intact Configural Processing But Impaired Capacity SO JOURNAL OF ABNORMAL PSYCHOLOGY LA English DT Article DE autism spectrum disorder; spatial working memory; attention; configural processing ID SHORT-TERM-MEMORY; MULTIPLE OBJECT TRACKING; VISUAL CHANGE DETECTION; SPECTRUM DISORDERS; ATTENTION; INTERFERENCE; ORGANIZATION; PERFORMANCE; PERCEPTION; DEFICITS AB Visual attention and visual working memory exert severe capacity limitations on cognitive processing. Impairments in both functions may exacerbate the social and communication deficits seen in children with an autism spectrum disorder (ASD). This study characterizes spatial working memory and visual attention in school-age children with high-functioning autism. Children with ASD, and age, gender, and IQ-matched typically developing (TD) children performed 2 tasks: a spatial working memory task and an attentive tracking task. Compared with TD children, children with ASD showed a more pronounced deficit in the spatial working memory task than the attentive tracking task, even though the latter placed significant demands on sustained attention, location updating, and distractor inhibition. Because both groups of children were sensitive to configuration mismatches between the sample and test arrays, the spatial working memory deficit was not because of atypical organization of spatial working memory. These findings show that attention and working memory are dissociable, and that children with ASD show a specific deficit in buffering visual information across temporal discontinuity. 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Abnorm. Psychol. PD FEB PY 2014 VL 123 IS 1 BP 248 EP 257 DI 10.1037/a0035420 PG 10 WC Psychology, Clinical; Psychology, Multidisciplinary SC Psychology GA AD7RL UT WOS:000333462800025 PM 24661175 ER PT J AU Berlin, GS Hollander, E AF Berlin, Gregory S. Hollander, Eric TI Compulsivity, impulsivity, and the DSM-5 process SO CNS SPECTRUMS LA English DT Review DE cross-cutting symptom domains; DSM-5; impulsivity; Compulsivity; RDoC ID REPETITIVE BEHAVIORS; SPECTRUM DISORDERS; CROSSOVER TRIAL; AUTISM; DESIPRAMINE; CLOMIPRAMINE; FLUOXETINE; EFFICACY AB Compulsivity and impulsivity are cross-cutting, dimensional symptom domains that span traditional diagnostic boundaries. We examine compulsivity and impulsivity from several perspectives and present implications for these symptom domains as they relate to classification. We describe compulsivity and impulsivity as general concepts, from the perspectives of the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) Research Planning Agenda, and from the DSM-5 workgroups, literature reviews, and field trials. Finally, we detail alternative modes of classification for compulsivity and impulsivity in line with the Research Domain Criteria (RDoC) and International Classification of Diseases (ICD-11). C1 Albert Einstein Coll Med, Autism & Obsess Compuls Spectrum Program, Bronx, NY 10467 USA. Montefiore Med Ctr, Bronx, NY 10467 USA. RP Hollander, E (reprint author), Albert Einstein Coll Med, Dept Psychiat & Behav Sci, 111 E 210th St, Bronx, NY 10467 USA. EM eholland@montefiore.org FU Transcept; Coronado; Roche; Forest FX Eric Hollander has the following disclosures: Transcept-consultant, consulting fee; Transcept-research support, research grant; Coronado-consultant, consulting fee; Coronado-research support, research grant; Roche-consultant, consultant fee; Roche-research support, research grant; Forest-research support, research grant. Gregory Berlin does not have anything to disclose. 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PD FEB PY 2014 VL 19 IS 1 BP 62 EP 68 DI 10.1017/S1092852913000722 PG 7 WC Clinical Neurology; Psychiatry SC Neurosciences & Neurology; Psychiatry GA AD0SO UT WOS:000332944600009 PM 24229702 ER PT J AU Burke, MM Hodapp, RM AF Burke, Meghan M. Hodapp, Robert M. TI Relating Stress of Mothers of Children With Developmental Disabilities to Family-School Partnerships SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE stress; education; family-school partnership; developmental disability ID PARENTING STRESS; DOWN-SYNDROME; CAREGIVERS; HEALTH; AUTISM; PERSPECTIVES; PERCEPTIONS; PERSONALITY; DISORDERS; SERVICES AB Although mothers of children with intellectual and developmental disabilities (IDD) experience high levels of stress and schools constitute an important resource, the relation remains unknown between maternal stress and educational services. Responding to a national, web-based survey, 965 mothers of students with disabilities completed a 163-item questionnaire about parent stress. We examined which child, parent, and parent-school characteristics correlated with maternal stress. Mothers with lower stress levels reported better parent-school relationships and low levels of parent advocacy. However, lower stress levels were predominantly shown by mothers with good-to-excellent parent-school relationships (vs. poor-to-fair partnerships) and who engaged in virtually no (vs. any) advocacy activities. Lower maternal stress levels were also noted when children had fewer behavior problems, Down syndrome, and did not have autism. Less stress was also reported by mothers who had not enacted procedural safeguards, were minorities, and rated themselves lower on neuroticism and were more extroverted, dependable, and open to new experiences. This study has important implications for practitioners and researchers. 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Dev. Disabil. PD FEB PY 2014 VL 52 IS 1 BP 13 EP 23 DI 10.1352/1934-9556-52.1.13 PG 11 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AD3YE UT WOS:000333181600002 PM 24635688 ER PT J AU Findler, L AF Findler, Liora TI The Experience of Stress and Personal Growth Among Grandparents of Children With and Without Intellectual Disability SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE grandparents; intellectual disability; stress; personal growth ID POSTTRAUMATIC GROWTH; INTERGENERATIONAL SUPPORT; SOCIAL SUPPORT; MENTAL-HEALTH; FAMILIES; MOTHERS; GRANDCHILDREN; GRANDMOTHERS; ADJUSTMENT; AUTISM AB The aim of this research was to examine the contribution of internal and external resources to stress and personal growth among grandparents of children with and without an intellectual disability. Ninety-four grandparents of children with intellectual disability and 105 grandparents of children without intellectual disability completed the following scales: Multidimensional Experience of Grandparenthood; Multidimensional Scale for Perceived Social Support, Level of Differentiation of Self Scale, Family Adaptability and Cohesion Evaluation Scale, Perceived Stress Scale, and Posttraumatic Growth Inventory. Results indicate that group differences are reflected in higher negative emotions among grandparents of children without intellectual disability. In addition, both stress and growth are related to better health, lower level of education, family cohesiveness, and negative emotions. However, whereas stress is associated with the internal resource of self-differentiation, the external resource of social support, and the cost of grandparenthood, growth is associated with gender and the symbolic and behavioral aspects of the grandparenting role. 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Cobigo, Virginie Ouellette-Kuntz, Helene M. J. Lunsky, Yona TI Lessons Learned From Our Elders: How to Study Polypharmacy in Populations With Intellectual and Developmental Disabilities SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE polypharmacy; intellectual and developmental disabilities; autism spectrum disorders; medication ID PSYCHOTROPIC MEDICATION USE; AUTISM SPECTRUM DISORDERS; GROUP-HOME RESIDENTS; DRUG-USE; ANTIPSYCHOTIC POLYPHARMACY; PRESCRIPTION DATABASE; MENTAL-RETARDATION; GENERAL-PRACTICE; OLDER-PEOPLE; PRIMARY-CARE AB Polypharmacy is the concurrent use of multiple medications, including both psychotropic and non-psychotropic drugs. Although it may sometimes be clinically indicated, polypharmacy can have a number of negative consequences, including medication nonadherence, adverse drug reactions, and undesirable drug-drug interactions. The objective of this paper was to gain a better understanding of how to study polypharmacy among people with intellectual and developmental disabilities (IDD). To do this, we reviewed literature on polypharmacy among the elderly and people with IDD to inform future research approaches and methods on polypharmacy in people with IDD. Results identified significant variability in methods used to study polypharmacy, including definitions of polypharmacy, samples studied, analytic strategies, and variables included in the analyses. Four valuable methodological lessons to strengthen future polypharmacy research in individuals with IDD emerged. These included the use of consistent definitions of polypharmacy, the implementation of population-based sampling strategies, the development of clinical guidelines, and the importance of studying associated variables. C1 [Stortz, Jessica N.; Ouellette-Kuntz, Helene M. J.] Queens Univ, Dept Publ Hlth Sci, Kingston, ON, Canada. 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PD FEB PY 2014 VL 52 IS 1 BP 60 EP 77 DI 10.1352/1934-9556-52.1.60 PG 18 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AD3YE UT WOS:000333181600006 PM 24635692 ER PT J AU Huang, H Vasung, L AF Huang, Hao Vasung, Lana TI Gaining insight of fetal brain development with diffusion MRI and histology SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE LA English DT Article DE Fetal brain; Development; DTI; Histology; White matter; Cerebral wall; Connectivity; Tractography ID ANISOTROPIC WATER DIFFUSION; HUMAN CEREBRAL-CORTEX; WHITE-MATTER DEVELOPMENT; HUMAN PREFRONTAL CORTEX; TENSOR MRI; IN-VIVO; PRENATAL DEVELOPMENT; PRETERM INFANTS; LAMINAR ORGANIZATION; FIBER PATHWAYS AB Human brain is extraordinarily complex and yet its origin is a simple tubular structure. Its development during the fetal period is characterized by a series of accurately organized events which underlie the mechanisms of dramatic structural changes during fetal development. Revealing detailed anatomy at different stages of human fetal brain development provides insight on understanding not only this highly ordered process, but also the neurobiological foundations of cognitive brain disorders such as mental retardation, autism, schizophrenia, bipolar and language impairment. Diffusion tensor imaging (DTI) and histology are complementary tools which are capable of delineating the fetal brain structures at both macroscopic and microscopic levels. In this review, the structural development of the fetal brains has been characterized with DTI and histology. Major components of the fetal brain, including cortical plate, fetal white matter and cerebral wall layer between the ventricle and subplate, have been delineated with DTI and histology. Anisotropic metrics derived from DTI were used to quantify the microstructural changes during the dynamic process of human fetal cortical development and prenatal development of other animal models. Fetal white matter pathways have been traced with DTI-based tractography to reveal growth patterns of individual white matter tracts and corticocortical connectivity. These detailed anatomical accounts of the structural changes during fetal period may provide the clues of detecting developmental and cognitive brain disorders at their early stages. The anatomical information from DTI and histology may also provide reference standards for diagnostic radiology of premature newborns. (C) 2013 ISDN. Published by Elsevier Ltd. All rights reserved. C1 [Huang, Hao] Johns Hopkins Univ, Adv Imaging Res Ctr, Baltimore, MD 21218 USA. [Huang, Hao] Johns Hopkins Univ, Univ Texas Southwestern Med Ctr, Dept Radiol, Baltimore, MD 21218 USA. 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TI Mapping connectivity in the developing brain (Reprinted from International Journal of Developmental Neuroscience, vol 31, pg 525-542, 2013) SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE LA English DT Reprint DE Development; Brain connectivity; DTI; HARDI; rs-fMRI; Autism; ADHD; Fragile X; 22q11.2 DS; Turner syndrome; Williams syndrome ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY DISORDER; STATE FUNCTIONAL CONNECTIVITY; WHITE-MATTER DEVELOPMENT; HUMAN CEREBRAL-CORTEX; FRAGILE-X-SYNDROME; 22Q11.2 DELETION SYNDROME; DEFAULT MODE NETWORK; DIFFUSION-TENSOR; SEX-DIFFERENCES AB Recently, there has been a wealth of research into structural and functional brain connectivity, and how they change over development. While we are far from a complete understanding, these studies have yielded important insights into human brain development. There is an ever growing variety of methods for assessing connectivity, each with its own advantages. Here we review research on the development of structural and/or functional brain connectivity in both typically developing subjects and subjects with neurodevelopmental disorders. Space limitations preclude an exhaustive review of brain connectivity across all developmental disorders, so we review a representative selection of recent findings on brain connectivity in autism, Fragile X, 22q11.2 deletion syndrome, Williams syndrome, Turner syndrome, and ADHD. Major strides have been made in understanding the developmental trajectory of the human connectome, offering insight into characteristic features of brain development and biological processes involved in developmental brain disorders. We also discuss some common themes, including hemispheric specialization - or asymmetry - and sex differences. We conclude by discussing some promising future directions in connectomics, including the merger of imaging and genetics, and a deeper investigation of the relationships between structural and functional connectivity. (C) 2013 ISDN. Published by Elsevier Ltd. All rights reserved. C1 [Dennis, Emily L.; Thompson, Paul M.] Univ Calif Los Angeles, Sch Med, Lab Neuro Imaging, Imaging Genet Ctr, Los Angeles, CA 90095 USA. RP Dennis, EL (reprint author), Univ Calif Los Angeles, Sch Med, Lab Neuro Imaging, Imaging Genet Ctr, 635 Charles Young Dr South,Suite 225, Los Angeles, CA 90095 USA. 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J. Dev. Neurosci. PD FEB PY 2014 VL 32 SI SI BP 41 EP 57 DI 10.1016/j.ijdevneu.2013.11.005 PG 17 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA AD1NW UT WOS:000333001700006 PM 24295552 ER PT J AU Kalueff, AV Stewart, AM Gerlai, R AF Kalueff, Allan V. Stewart, Adam Michael Gerlai, Robert TI Zebrafish as an emerging model for studying complex brain disorders SO TRENDS IN PHARMACOLOGICAL SCIENCES LA English DT Review DE zebrafish; brain disorders; behavioral tests; translational research ID TOUCHSCREEN OPERANT PLATFORM; AUTISM SPECTRUM DISORDER; GENE-EXPRESSION CHANGES; DANIO-RERIO; ADULT ZEBRAFISH; LARVAL ZEBRAFISH; ANIMAL-MODELS; PSYCHIATRIC-DISORDERS; ETHANOL EXPOSURE; NEUROPSYCHIATRIC DISORDERS AB The zebrafish (Danio rerio) is rapidly becoming a popular model organism in pharmacogenetics and neuropharmacology. Both larval and adult zebrafish are currently used to increase our understanding of brain function, dysfunction, and their genetic and pharmacological modulation. Here we review the developing utility of zebrafish in the analysis of complex brain disorders (including, e.g., depression, autism, psychoses, drug abuse, and cognitive deficits), also covering zebrafish applications towards the goal of modeling major human neuropsychiatric and drug-induced syndromes. We argue that zebrafish models of complex brain disorders and drug-induced conditions are a rapidly emerging critical field in translational neuroscience and pharmacology research. C1 [Kalueff, Allan V.; Stewart, Adam Michael] ZENEREI Inst, Slidell, LA 70458 USA. [Kalueff, Allan V.; Stewart, Adam Michael] Int Zebrafish Neurosci Res Consortium ZNRC, Slidell, LA 70458 USA. [Stewart, Adam Michael] Univ Pittsburgh, Dept Neurosci, Pittsburgh, PA 15260 USA. [Gerlai, Robert] Univ Toronto, Dept Psychol, Mississauga, ON L5L 1C6, Canada. RP Kalueff, AV (reprint author), ZENEREI Inst, 309 Palmer Court, Slidell, LA 70458 USA. EM avkalueff@gmail.com FU National Institutes of Health [NIAAA AA015325-01A2, NIDA DA030900-02] FX The authors acknowledge help of many members of the Kalueff Laboratory at Tulane University and the ZENEREI Institute for developing illustrations for this manuscript. We thank Dr. L. Noldus (Noldus IT, Netherlands), Dr. R. Mervis (University of South Florida, USA) and their research teams for providing illustrations for panels in Figure 1, based on our collaborative projects. The authors' research has been supported by grants from the National Institutes of Health (NIAAA AA015325-01A2 to R.G., and NIDA DA030900-02 to A.V.K.). 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Sci. PD FEB PY 2014 VL 35 IS 2 BP 63 EP 75 DI 10.1016/j.tips.2013.12.002 PG 13 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA AC3QH UT WOS:000332435800003 PM 24412421 ER PT J AU Garcia-Lopez, C Narbona, J AF Garcia-Lopez, C. Narbona, J. TI Clinical usefulness of IDEA and CARS: concordance with DSM-IV-TR in children and adolescents with suspicion of PDD SO ANALES DE PEDIATRIA LA Spanish DT Article DE Autism; Observational scales; Evaluation; Inventario del Espectro Autista; Childhood Autism Rating Scale; Pervasive developmental disorders; Autism spectrum disorders ID AUTISM RATING-SCALE; DIAGNOSTIC OBSERVATION SCHEDULE; CHILDHOOD AUTISM; SPECTRUM DISORDERS; INTERVIEW; BEHAVIOR AB Introduction: Observational scales are useful to estimate the severity of symptoms in PDD as well as to monitor their evolution. Objectives: a) To analyze the concordance between diagnoses based on the Autism Spectrum Inventory (Inventario del Espectro Autista, IDEA)) and the Childhood Autism Rating Scale (CARS), compared to DSM-IV-TR criteria, in subjects with a suspicion of pervasive developmental disorders (PDD), and b) to study the discrimination power of both scales to differentiate between a clinical diagnosis situated in the autism spectrum. Patients and methods: Fifty-six children and adolescents, between 2 and 20 years-old, who attended our Neuropediatric Unit due to suspicion of PDD. Independently, two clinicians evaluated the presence of PDD symptoms; one of them according to DSM-IV-TR criteria and the other one based on the application of IDEA and CARS. Results: The concordance of IDEA and CARS when compared to DSM-IV-TR classification was 73 and 82%, respectively, with a sensitivity of 1 and 0,83 and a specificity of 0,61 and 0,82, respectively. Both scales correctly discriminated between autistic disorder and other clinical diagnoses. Conclusions: Both IDEA and CARS are useful instruments to detect and monitor autism symptoms in the context of routine clinical practice. (C) 2012 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved. C1 [Garcia-Lopez, C.; Narbona, J.] Univ Navarra Clin, Unidad Neurol Pediat, Pamplona, Spain. RP Garcia-Lopez, C (reprint author), Univ Navarra Clin, Unidad Neurol Pediat, Pamplona, Spain. 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Pediatr. PD FEB PY 2014 VL 80 IS 2 BP 71 EP 76 DI 10.1016/j.anpedi.2013.05.012 PG 6 WC Pediatrics SC Pediatrics GA AC3RM UT WOS:000332438900002 PM 23827096 ER PT J AU Jones, EJH Gliga, T Bedford, R Charman, T Johnson, MH AF Jones, Emily J. H. Gliga, Teodora Bedford, Rachael Charman, Tony Johnson, Mark H. TI Developmental pathways to autism: A review of prospective studies of infants at risk SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS LA English DT Review DE ASD; Autism; Infant sibling; High-risk; Causal path; Developmental mechanisms ID FUNCTIONAL BRAIN-DEVELOPMENT; SPECTRUM DISORDERS; JOINT ATTENTION; YOUNG-CHILDREN; 1ST YEAR; COMMUNICATION DEVELOPMENT; DEVELOPING MECHANISMS; LANGUAGE-DEVELOPMENT; TYPICAL DEVELOPMENT; HEAD CIRCUMFERENCE AB Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social interaction and communication, and the presence of restrictive andrepetitive behaviors. Symptoms of ASD likely emerge from a complex interaction between pre-existing neurodevelopmental vulnerabilities and the child's environment, modified by compensatory skills and protective factors. Prospective studies of infants at high familial risk for ASD (who have an older sibling with a diagnosis) are beginning to characterize these developmental pathways to the emergence of clinical symptoms. Here, we review the range of behavioral and neurocognitive markers for later ASD that have been identified in high-risk infants in the first years of life. We discuss theoretical implications of emerging patterns, and identify key directions for future work, including potential resolutions to several methodological challenges for the field. Mapping how ASD unfolds from birth is critical to our understanding of the developmental mechanisms underlying this disorder. A more nuanced understanding of developmental pathways to ASD will help us not only to identify children who need early intervention, but also to improve the range of interventions available to them. (C) 2014 The Authors. Published by Elsevier Ltd. All rights reserved. C1 [Jones, Emily J. H.; Gliga, Teodora; Johnson, Mark H.] Univ London, Birkbeck Coll, Ctr Brain & Cognit Dev, London WC1E 7HU, England. [Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England. [Bedford, Rachael] Kings Coll London, Inst Psychiat, Dept Biostat, London WC2R 2LS, England. RP Jones, EJH (reprint author), Birkbeck Coll, Sch Psychol, Ctr Brain & Cognit Dev, Malet St, London WC1E 7HX, England. EM e.jones@bbk.ac.uk RI Charman, Tony/A-2085-2014 OI Charman, Tony/0000-0003-1993-6549 FU Innovative Medicines Initiative Joint Undertaking [115300]; European Union; EFPIA companies; UK Medical Research Council; Autistica; COST Action [BM1004] FX This work has received support from the Innovative Medicines Initiative Joint Undertaking under Grant Agreement No. 115300, resources of which are composed of financial contribution from the European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies' in kind contribution. The work was also supported by the UK Medical Research Council and Autistica, and COST Action BM1004. 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Biobehav. Rev. PD FEB PY 2014 VL 39 BP 1 EP 33 DI 10.1016/j.neubiorev.2013.12.001 PG 33 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AC7ZN UT WOS:000332752900001 PM 24361967 ER PT J AU Ruigrok, ANV Salimi-Khorshidi, G Lai, MC Baron-Cohen, S Lombardo, MV Tait, RJ Suckling, J AF Ruigrok, Amber N. V. Salimi-Khorshidi, Gholaihreza Lai, Meng-Chuan Baron-Cohen, Simon Lombardo, Michael V. Tait, Roger J. Suckling, John TI A meta-analysis of sex differences in human brain structure SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS LA English DT Article DE Brain; Sex differences; Meta-analysis; Gaussian-process regression (GPR); Voxel-based morphometry; Volume ID VOXEL-BASED MORPHOMETRY; ADULT HUMAN BRAIN; CORTICAL GRAY-MATTER; CORPUS-CALLOSUM SIZE; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; INTRACRANIAL COMPARTMENT VOLUMES; AUTISM SPECTRUM DISORDER; VENTRAL FRONTAL-CORTEX; WHITE-MATTER; GENDER-DIFFERENCES AB The prevalence, age of onset, and symptomatology of many neuropsychiatric conditions differ between males and females. To understand the causes and consequences of sex differences it is important to establish where they occur in the human brain. We report the first meta-analysis of typical sex differences on global brain volume, a descriptive account of the breakdown of studies of each compartmental volume by six age categories, and whole-brain voxel-wise meta-analyses on brain volume and density. Gaussian-process regression coordinate-based meta-analysis was used to examine sex differences in voxel-based regional volume and density. On average, males have larger total brain volumes than females. Examination of the breakdown of studies providing total volumes by age categories indicated a bias towards the 18-59 year-old category. Regional sex differences in volume and tissue density include the amygdala, hippocampus and insula, areas known to be implicated in sex-biased neuropsychiatric conditions. Together, these results suggest candidate regions for investigating the asymmetric effect that sex has on the developing brain, and for understanding sex-biased neurological and psychiatric conditions. (C) 2014 The Authors. Published by Elsevier Ltd. All rights reserved. C1 [Ruigrok, Amber N. V.; Lai, Meng-Chuan; Baron-Cohen, Simon; Lombardo, Michael V.] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 2AH, England. [Salimi-Khorshidi, Gholaihreza] Univ Oxford, John Radcliffe Hosp, FMRIB, Ctr Funct MRI,Brain Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England. [Lai, Meng-Chuan] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10051, Taiwan. [Baron-Cohen, Simon; Suckling, John] Fulbourn Hosp, Cambridgeshire & Peterborough NHS Fdn Trust, Cambridge CB21 5EF, England. [Lombardo, Michael V.] Univ Cyprus, Dept Psychol, CY-1678 Nicosia, Cyprus. [Tait, Roger J.; Suckling, John] Univ Cambridge, Sch Clin Med, Brain Mapping Unit, Cambridge CB2 0SP, England. [Tait, Roger J.; Suckling, John] Univ Cambridge, Behav & Clin Neurosci Inst, Dept Psychol, Cambridge CB2 3EB, England. RP Ruigrok, ANV (reprint author), Univ Cambridge, Autism Res Ctr, Dept Psychiat, Douglas House,18B Trumpington Rd, Cambridge CB2 2AH, England. EM ar560@cam.ac.uk FU Wellcome Trust; Medical Research Council (MRC) Behavioural and Clinical Neuroscience Institute; UK MRC PhD Studentship [RNAG/261 Task 2]; Dr Hendrik Muller Vaderlandsch Fonds; Carolus Magnus Fonds under the Prins Bernard Cultuurfonds; Waterloo Foundation [921/1247]; Jesus College Cambridge; British Academy; Autism Research Trust; MRC FX We would like to thank all the authors of studies included in the meta-analyses who provided additional data. This study was supported by the Wellcome Trust and Medical Research Council (MRC) Behavioural and Clinical Neuroscience Institute. A.N.V.R. was funded by an UK MRC PhD Studentship grant number RNAG/261 Task 2, the Wellcome Trust, the Dr Hendrik Muller Vaderlandsch Fonds, and the Carolus Magnus Fonds under the Prins Bernard Cultuurfonds; M-C.L. was funded by the Waterloo Foundation grant number 921/1247; M.V.L. by the Wellcome Trust, Jesus College Cambridge, and the British Academy; and S.B-C. by the Wellcome Trust, the Autism Research Trust and the MRC. 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Biobehav. Rev. PD FEB PY 2014 VL 39 BP 34 EP 50 DI 10.1016/j.neubiorev.2013.12.004 PG 17 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AC7ZN UT WOS:000332752900002 PM 24374381 ER PT J AU Koh, E AF Koh, Eugen TI The Cunningham Dax Collection: a unique mental health resource SO AUSTRALASIAN PSYCHIATRY LA English DT Article DE art; mental illness; trauma; collection; mental health promotion AB Objectives: This paper compares the Cunningham Dax Collection with other, similar collections around the world, of art by people with an experience of mental illness. Conclusion: The Cunningham Dax Collection is one of the largest collections of art by people with an experience of mental illness and psychological trauma in the world. Unlike most other collections, which focus on artworks by people with psychosis, mania and depression, the Cunningham Dax Collection covers a broad range of experiences, including anxiety disorders, dementia, autism and psychological trauma, as well as works by children made during their treatment for emotional problems. While most other collections emphasize the artistic qualities of the works, the Cunningham Dax Collection emphasizes both their artistic and psychological dimensions. Its educational program is recognized for its approach against stigma, by simultaneously promoting mental health literacy and highlighting the creativity of people with mental illness through art. It also distinguishes itself from others by its assertive touring program to rural and regional centres, and internationally. This program aims to build capacity for mental health promotion and suicide prevention by encouraging local communities to come together and use the visiting exhibitions to launch local mental health awareness activities. C1 [Koh, Eugen] Cunningham Dax Collect, Fitzroy, Vic, Australia. [Koh, Eugen] St Vincents Hosp, Fitzroy, Vic 3065, Australia. RP Koh, E (reprint author), St Vincents Hosp, 46 Nicholson St, Fitzroy, Vic 3065, Australia. EM eugenkoh@me.com NR 0 TC 0 Z9 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1039-8562 EI 1440-1665 J9 AUSTRALAS PSYCHIATRY JI Australas. Psychiatry PD FEB PY 2014 VL 22 IS 1 BP 41 EP 43 DI 10.1177/1039856213517951 PG 3 WC Psychiatry SC Psychiatry GA AA7NX UT WOS:000331285300009 PM 24516241 ER PT J AU Bailey, A AF Bailey, Anthony TI Autism Treatment Research SO AUTISM RESEARCH LA English DT Editorial Material C1 Univ British Columbia, Dept Psychiat, Vancouver, BC, Canada. RP Bailey, A (reprint author), Univ British Columbia, Dept Psychiat, Vancouver, BC, Canada. RI Bailey, Anthony/J-2860-2014 OI Bailey, Anthony/0000-0003-4257-972X NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1939-3792 EI 1939-3806 J9 AUTISM RES JI Autism Res. PD FEB PY 2014 VL 7 IS 1 BP 1 EP 3 DI 10.1002/aur.1358 PG 3 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300001 PM 24478272 ER PT J AU Corbett, BA Swain, DM Coke, C Simon, D Newsom, C Houchins-Juarez, N Jenson, A Wang, L Song, YN AF Corbett, Blythe A. Swain, Deanna M. Coke, Catherine Simon, David Newsom, Cassandra Houchins-Juarez, Nea Jenson, Ashley Wang, Lily Song, Yanna TI Improvement in Social Deficits in Autism Spectrum Disorders Using a Theatre-Based, Peer-Mediated Intervention SO AUTISM RESEARCH LA English DT Article DE autism; social interaction; face processing; theatre; cortisol ID PERVASIVE DEVELOPMENTAL DISORDERS; SKILLS INTERVENTIONS; ASPERGER-SYNDROME; PARENTING STRESS; CHILDREN; CORTISOL; BEHAVIOR; CLASSIFICATION; COMMUNICATION; METAANALYSIS AB Social Emotional NeuroScience Endocrinology Theatre is a novel intervention program aimed at improving reciprocal social interaction in youth with autism spectrum disorder (ASD) using behavioral strategies and theatrical techniques in a peer-mediated model. Previous research using a 3-month model showed improvement in face perception, social interaction, and reductions in stress. The current study assessed a 2-week summer camp model. Typically developing peers were trained and paired with ASD youth (8-17 years). Social perception and interaction skills were measured before and after treatment using neuropsychological and parental measures. Behavioral coding by reliable, independent raters was conducted within the treatment context (theatre) and outside the setting (playground). Salivary cortisol levels to assess physiological arousal were measured across contexts (home, theatre, and playground). A pretest-posttest design for within-group comparisons was used, and prespecified pairwise comparisons were achieved using a nonparametric Wilcoxon signed-rank test. Significant differences were observed in face processing, social awareness, and social cognition (P<0.05). Duration of interaction with familiar peers increased significantly over the course of treatment (P<0.05), while engagement with novel peers outside the treatment setting remained stable. Cortisol levels rose on the first day of camp compared with home values yet declined by the end of treatment and further reduced during posttreatment play with peers. Results corroborate previous findings that the peer-mediated theatre program contributes to improvement in core social deficits in ASD using a short-term, summer camp treatment model. Future studies will explore treatment length and peer familiarity to optimize and generalize gains. Autism Res 2014,7: 4-16. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Corbett, Blythe A.; Swain, Deanna M.; Simon, David; Newsom, Cassandra; Jenson, Ashley] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA. [Corbett, Blythe A.; Swain, Deanna M.; Simon, David; Newsom, Cassandra; Houchins-Juarez, Nea; Wang, Lily] Vanderbilt Kennedy Ctr, Nashville, TN USA. [Coke, Catherine] Univ Sch Nashville, Nashville, TN USA. [Wang, Lily; Song, Yanna] Vanderbilt Univ, Dept Biostat, Nashville, TN 37203 USA. RP Corbett, BA (reprint author), Vanderbilt Univ, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA. EM blythe.corbett@vanderbilt.edu FU Martin McCoy-Jesperson Discovery Grant in Positive Psychology; National Institute of Mental Health [R01 MH085717]; National Institute of Child Health and Human Development [P30 HD15052] FX Grant Sponsor: Martin McCoy-Jesperson Discovery Grant in Positive PsychologyGrant Sponsor: National Institute of Mental Health; Grant Number: R01 MH085717Grant Sponsor: National Institute of Child Health and Human Development; Grant Number: P30 HD15052 CR Abidin R. 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PD FEB PY 2014 VL 7 IS 1 BP 4 EP 16 DI 10.1002/aur.1341 PG 13 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300002 PM 24150989 ER PT J AU Louwerse, A Tulen, JHM van der Geest, JN van der Ende, J Verhulst, FC Greaves-Lord, K AF Louwerse, Anneke Tulen, Joke H. M. van der Geest, Jos N. van der Ende, Jan Verhulst, Frank C. Greaves-Lord, Kirstin TI Autonomic Responses to Social and Nonsocial Pictures in Adolescents With Autism Spectrum Disorder SO AUTISM RESEARCH LA English DT Article DE autism spectrum disorders (ASD); affective pictures; autonomic responses; subjective ratings; heart rate; skin conductance level ID DIAGNOSTIC OBSERVATION SCHEDULE; HIGH-FUNCTIONING AUTISM; ELECTRODERMAL REACTIVITY; PHYSIOLOGICAL REACTIVITY; CHILDREN; EMOTION; FACES; PERCEPTION; GAZE; COMMUNICATION AB It remains unclear why individuals with autism spectrum disorder (ASD) tend to respond in an atypical manner in social situations. Investigating autonomic and subjective responses to social vs. nonsocial stimuli may help to reveal underlying mechanisms of these atypical responses. This study examined autonomic responses (skin conductance level and heart rate) and subjective responses to social vs. nonsocial pictures in 37 adolescents with an ASD and 36 typically developing (TD) adolescents. Thirty-six pictures from the International Affective Picture System were presented, divided into six categories based on social content (social vs. nonsocial) and pleasantness (pleasant, neutral, and unpleasant). Both in adolescents with ASD as well as TD adolescents, pictures with a social content resulted in higher skin conductance responses (SCRs) for pleasant and unpleasant pictures than for neutral pictures. No differences in SCRs were found for the three nonsocial picture categories. Unpleasant pictures, both with and without a social content, showed more heart rate deceleration than neutral pictures. Self-reported arousal ratings were influenced by the social and affective content of a picture. No differences were found between individuals with ASD and TD individuals in their autonomic and subjective responses to the picture categories. These results suggest that adolescents with ASD do not show atypical autonomic or subjective responses to pictures with and without a social content. These findings make it less likely that impairments in social information processing in individuals with ASD can be explained by atypical autonomic responses to social stimuli. Autism Res 2014, 7: 17-27. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Louwerse, Anneke; van der Ende, Jan; Verhulst, Frank C.; Greaves-Lord, Kirstin] Erasmus MC Sophia, Dept Child & Adolescent Psychiat Psychol, NL-3015 CN Rotterdam, Netherlands. [Louwerse, Anneke; Greaves-Lord, Kirstin] Yulius, Org Mental Hlth, Dordrecht, Netherlands. [Tulen, Joke H. M.] Erasmus MC, Dept Psychiat, Rotterdam, Netherlands. [van der Geest, Jos N.] Erasmus MC, Dept Neurosci, Rotterdam, Netherlands. RP Louwerse, A (reprint author), Erasmus MC Sophia, Dept Child & Adolescent Psychiat Psychol, Wytemaweg 8, NL-3015 CN Rotterdam, Netherlands. EM s.louwerse@erasmusmc.nl FU Sophia Foundation for Scientific Research (SSWO) [586]; Nuts Ohra Foundation [0803-53] FX Grant sponsor: Sophia Foundation for Scientific Research (SSWO), Grant number: 586, 2009.Grant sponsor: Nuts Ohra Foundation, Grant number: 0803-53. 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TI Do Children With Autism Re-Enact Object Movements Rather Than Imitate Demonstrator Actions? SO AUTISM RESEARCH LA English DT Article DE autism; imitation; emulation; transitive ID SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW; MOTOR IMITATION; INFANTS; DEFICITS; TASK; APES; MIND AB It has been suggested that autism-specific imitative deficits may be reduced or even spared in object-related activities. However, most previous research has not sufficiently distinguished object movement reenactment (learning about the ways in which object move) from imitation (learning about the topography of demonstrated actions). Twenty children with autism (CWA) and 20 typically developing children (TDC) were presented with puzzle boxes containing prizes. Test objects and experimental conditions were designed to isolate object- and action-related aspects of demonstrations. There were four types of video demonstrations: (a) a full demonstration by an adult; (b) a ghost demonstration with object movements alone; (c) mimed solutions demonstrated adjacent to the objects; and (d) random actions performed on the surface of the objects. There were no significant between-group differences in the degree to which CWA and TDC matched the full demonstrations, the actual demonstrations or in their times to first solution in any of the conditions. Although there was no clear imitative deficit in the CWA, regression analyses were conducted to explore in more detail whether diagnosis, verbal intelligence quotient (VIQ), nonverbal IQ NVIQ, age or motor coordination predicted performance. The results are discussed in relation to the use of extrinsic vs. intrinsic rewards and the interplay between motor coordination and the relative rigidity vs. pliability of objects. Autism Res 2014, 7: 28-39. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Custance, Deborah M.; Hill, Elisabeth; Heaton, Pamela F.] Univ London Goldsmiths Coll, Dept Psychol, London SE14 6NW, England. [Mayer, Jennifer L.] Univ Roehampton, Dept Psychol, Whitelands Coll, London SW15 4JD, England. [Kumar, Emmelianna] Zool Soc London, Inst Zool, London NW1 4RY, England. RP Mayer, JL (reprint author), Univ Roehampton, Dept Psychol, Whitelands Coll, Holyborne Ave, London SW15 4JD, England. EM jennifer.mayer@roehampton.ac.uk FU Economic and Social Research Council [RES-00022-2006] FX This research was carried out with the support of the Economic and Social Research Council (award reference number RES-00022-2006). We are very grateful to all the schools, children and parents who participated in our experiments. We are indebted to Mr. Stephen Yesson and Mr. Robert Davis for constructing the test objects, Mrs. Vivienne Custance and Dr Lisa Riley for helping in data collection, and Ms. Elisabeth Martinsson and Mrs. Katherine Filer for interobserver reliability coding. We would like to thank Dr. Rory Allen for offering his statistical expertise. We are also grateful to the reviewers who provided extremely helpful and insightful commentaries on earlier versions of this paper. CR American Psychiatric Association, 2000, DSM 4 TR DIAGN STAT, VFourth Bhat AN, 2011, PHYS THER, V91, P1116, DOI 10.2522/ptj.20100294 Bird G, 2007, P ROY SOC B-BIOL SCI, V274, P3027, DOI 10.1098/rspb.2007.1019 Bruininks R. H., 2005, BRUININKS OSERETSKY CALL J, 2002, COM ADAP SY, P211 Custance D, 1999, J COMP PSYCHOL, V113, P13, DOI 10.1037/0735-7036.113.1.13 D'Sousa L., 2004, THESIS GOLDSMITHS CO Dawson M, 2007, PSYCHOL SCI, V18, P657, DOI 10.1111/j.1467-9280.2007.01954.x Dunn L. 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PD FEB PY 2014 VL 7 IS 1 BP 28 EP 39 DI 10.1002/aur.1328 PG 12 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300004 PM 24022995 ER PT J AU Mayer, JL Heaton, PF AF Mayer, Jennifer L. Heaton, Pamela F. TI Age and Sensory Processing Abnormalities Predict Declines in Encoding and Recall of Temporally Manipulated Speech in High-Functioning Adults with ASD SO AUTISM RESEARCH LA English DT Article DE Autism Spectrum Disorders; Speech Perception; Auditory Processing; Aging ID AUTISM SPECTRUM DISORDERS; EVENT-RELATED POTENTIALS; BRAIN-STEM RESPONSE; ASPERGER-SYNDROME; RAPID SPEECH; CHILDREN; PERCEPTION; TIME; ATTENTION; SOUNDS AB While temporal and perceptual processing abnormalities, identified in a number of electrophysiological and brain imaging studies of individuals with (ASD), are likely to impact on speech perception, surprisingly little is known about the behavioral outcomes of such abnormalities. It has been hypothesized that rapid temporal processing deficits may be linked to impaired language development through interference with acoustic information during speech perception. The present study aimed to investigate the impact of temporal changes on encoding and recall of speech, and the associated cognitive, clinical, and behavioral correlates in adults with ASD. Research carried out with typically developing (TD) adults has shown that word recall diminishes as the speed of speech increases, and it was predicted that the magnitude of this effect would be far greater in those with ASD because of a preexisting rapid temporal processing deficit. Nineteen high-functioning adults with ASD, and age- and intelligence-matched TD controls performed verbatim recall of temporally manipulated sentences. Reduced levels of word recall in response to increases in presentation speed were observed, and this effect was greater in the older participants in the ASD group than in the control group. This is the first study to show that both sensory abnormalities and aging impact on speech encoding in ASD. Auditory processing deficits in ASD may be indicative of an association with the sensory abnormalities and social and communication impairments characterizing the disorder. Autism Res 2014, 7: 40-49. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Mayer, Jennifer L.] Univ Roehampton, Dept Psychol, London SW15 4JD, England. [Heaton, Pamela F.] Univ London, Univ London Goldsmiths Coll, Dept Psychol, London, England. RP Mayer, JL (reprint author), Univ Roehampton, Dept Psychol, Whitelands Coll, Holyborne Ave, London SW15 4JD, England. EM jennifer.mayer@roehampton.ac.uk FU Baily Thomas Trust FX This research was carried out with the support of the Baily Thomas Trust. We are very grateful to all the ASD and TD adults who participated in our study. We would also like to thank Mr. Ian Hannett for his assistance creating the stimuli. CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Baron-Cohen S, 2001, J AUTISM DEV DISORD, V31, P5, DOI 10.1023/A:1005653411471 Bishop D. V. M., 2009, COMMUNICATION CHECKL Boersma P., 2001, PRAAT SYSTEM DOING P Cardy JEO, 2005, NEUROREPORT, V16, P329 Crane L, 2009, AUTISM, V13, P215, DOI 10.1177/1362361309103794 Doyle-Thomas KAR, 2013, RES AUTISM SPECT DIS, V7, P141, DOI 10.1016/j.rasd.2012.08.004 Dunn L. M., 1997, PEABODY PICTURE VOCA, V3rd Dunn W., 2002, ADULT ADOLESCENT SEN Fujikawa-Brooks S, 2010, INT J AUDIOL, V49, P129, DOI 10.3109/14992020903289790 Gepner B, 2009, NEUROSCI BIOBEHAV R, V33, P1227, DOI 10.1016/j.neubiorev.2009.06.006 Gepner B., 2006, FRONTIERS COGNITIVE, P1 Gervais H, 2004, NAT NEUROSCI, V7, P801, DOI 10.1038/nn1291 Gillberg C., 2000, BIOL AUTISTIC SYNDRO Howlin P, 2005, AUTISM, V9, P533, DOI 10.1177/1362361305057871 Janse E, 2004, SPEECH COMMUN, V42, P155, DOI 10.1016/j.specom.2003.07.001 Kallstrand J, 2010, NEUROPSYCH DIS TREAT, V6, P289 Klinger L., 2002, CHILD PSYCHOPATHOLOG, P409 Kujala T, 2000, PSYCHOPHYSIOLOGY, V37, P262 Kwakye L. 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PD FEB PY 2014 VL 7 IS 1 BP 40 EP 49 DI 10.1002/aur.1333 PG 10 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300005 PM 24106132 ER PT J AU Bebko, JM Schroeder, JH Weiss, JA AF Bebko, James M. Schroeder, Jessica H. Weiss, Jonathan A. TI The McGurk Effect in Children With Autism and Asperger Syndrome SO AUTISM RESEARCH LA English DT Article DE autism; intermodal perception; Asperger syndrome; intellectual disability; speech ID SPECTRUM DISORDERS; SPEECH-PERCEPTION; INTEGRATION; INFANTS; LIPS; FACE AB Children with autism may have difficulties in audiovisual speech perception, which has been linked to speech perception and language development. However, little has been done to examine children with Asperger syndrome as a group on tasks assessing audiovisual speech perception, despite this group's often greater language skills. Samples of children with autism, Asperger syndrome, and Down syndrome, as well as a typically developing sample, were presented with an auditory-only condition, a speech-reading condition, and an audiovisual condition designed to elicit the McGurk effect. Children with autism demonstrated unimodal performance at the same level as the other groups, yet showed a lower rate of the McGurk effect compared with the Asperger, Down and typical samples. These results suggest that children with autism may have unique intermodal speech perception difficulties linked to their representations of speech sounds. Autism Res 2014, 7: 50-59. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Bebko, James M.; Schroeder, Jessica H.; Weiss, Jonathan A.] York Univ, Toronto, ON M3J 1P3, Canada. RP Bebko, JM (reprint author), York Univ, Dept Psychol, 4700 Keele St, Toronto, ON M3J 1P3, Canada. EM jbebko@yorku.ca FU Canadian Graduate Scholarship Master's and Doctoral Awards; Canadian Institutes of Health Research (CIHR); Ontario Mental Health Foundation; CIHR [RT-43820] FX We would like to thank Nicole Aliya Rahim, Lisa Hancock, Carly McMorris, Maggie Slusarczyk, and Ksusha Blacklock for help in data collection. Special thanks to all the parents and children involved in this study, as well as the organizations who assisted in recruitment. A special thank you to Melissa Hudson, and the late Jeanette Holden for their generous assistance with the ASD-CARC Research Registry. This research was supported by Canadian Graduate Scholarship Master's and Doctoral Awards to the second author from the Canadian Institutes of Health Research (CIHR), a Research Studentship to the third author from Autism Ontario and the Ontario Mental Health Foundation, and a CIHR Interdisciplinary Health Research Team grant (RT-43820) to the second author and third author through the ASD-CARC consortium (JJAH, principal investigator; http://www.asdcarc.com/). CR AGRE, AFF STAT CAT American Psychiatric Association, 2000, DIAGN STAT MAN MENT American Psychiatric Association, 2013, DIAGN STAT MAN MENT Arick J. 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PD FEB PY 2014 VL 7 IS 1 BP 50 EP 59 DI 10.1002/aur.1343 PG 10 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300006 PM 24136870 ER PT J AU Amiri, A Sanchez-Ortiz, E Cho, W Birnbaum, SG Xu, J McKay, RM Parada, LF AF Amiri, Anahita Sanchez-Ortiz, Efrain Cho, Woosung Birnbaum, Shari G. Xu, Jing McKay, Renee M. Parada, Luis F. TI Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus SO AUTISM RESEARCH LA English DT Article DE Fragile X Syndrome; Fmr1; autism; mental retardation; Nse-Cre; synaptic plasticity ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; KNOCK-OUT MICE; GABA(A) RECEPTOR; SOCIAL-INTERACTION; DENDRITIC SPINES; PURKINJE-CELLS; MODEL; EXPRESSION; AUTISM AB Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. AutismRes 2014, 7: 60-71. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. (c) 2013 INSAR/Wiley Periodicals, Inc. C1 [Amiri, Anahita; Sanchez-Ortiz, Efrain; Cho, Woosung; McKay, Renee M.; Parada, Luis F.] Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA. [Birnbaum, Shari G.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA. RP Parada, LF (reprint author), Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA. EM luis.parada@utsouthwestern.edu FU Simons Foundation FX We thank Ami Pettersen, Tracey Shipman, and Shawna Kennedy for technical assistance. This study was supported by a grant to LFP from the Simons Foundation. LFP is an American Cancer Society Professor. 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AUTISM RES JI Autism Res. PD FEB PY 2014 VL 7 IS 1 BP 60 EP 71 DI 10.1002/aur.1342 PG 12 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300007 PM 24408886 ER PT J AU Yi, L Feng, C Quinn, PC Ding, HY Li, J Liu, YB Lee, K AF Yi, Li Feng, Cong Quinn, Paul C. Ding, Haiyan Li, Jiao Liu, Yubing Lee, Kang TI Do Individuals with and without Autism Spectrum Disorder Scan Faces Differently? A New Multi-Method Look at an Existing Controversy SO AUTISM RESEARCH LA English DT Article DE autism spectrum disorder; face scanning; face recognition; eye tracking ID DIAGNOSTIC INTERVIEW; NEURAL CIRCUITRY; YOUNG-CHILDREN; RECOGNITION; FIXATION; GAZE; IMPAIRMENT; LOOKING; SKILLS; EYES AB Individuals with autism spectrum disorder (ASD) are known to process faces atypically. However, there has been considerable controversy regarding whether ASD individuals also scan faces differently from typical adults. Here we compared ASD individuals' face-scanning patterns with those of typically developing (TD) controls and intellectually disabled (ID) but non-ASD individuals with the use of an eye tracker and multiple approaches to analyze eye-tracking data. First, we analyzed the eye movement data with a traditional approach, measuring fixation duration on each area of interest within the face. We found that compared with TD and ID individuals, ASD individuals looked significantly shorter at the right eye. Second, we used a data-driven method that analyzes fixations on each pixel of the face stimulus and found that individuals with ASD looked more at the central nasal area than TD and ID individuals. Third, we used a novel saccade path analysis that measures frequencies of saccades between major face areas. We found that ASD individuals scanned less often between core facial features than TD individuals but did not differ from ID individuals. Findings from the multi-method approaches show that individuals with ASD appear not to have a pervasive ASD-specific atypicality in visual attention toward the face. The ASD-specific atypical face-scanning patterns were shown to be limited to fixations on the eyes and nose. Autism Res 2014, 7: 72-83. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Yi, Li; Li, Jiao; Liu, Yubing] Sun Yat Sen Univ, Dept Psychol, Guangzhou 510275, Guangdong, Peoples R China. [Feng, Cong] Sun Yat Sen Univ, Dept Philosophy, Guangzhou 510275, Guangdong, Peoples R China. [Feng, Cong] Sun Yat Sen Univ, Inst Log & Cognit, Guangzhou 510275, Guangdong, Peoples R China. [Quinn, Paul C.] Univ Delaware, Dept Psychol, Newark, DE USA. [Ding, Haiyan] Guangzhou Zhanneng Vocat Training Ctr Disabled, Guangzhou, Guangdong, Peoples R China. [Lee, Kang] Univ Toronto, Dr Eric Jackman Inst Child Study, Toronto, ON, Canada. RP Yi, L (reprint author), Sun Yat Sen Univ, Dept Psychol, 135 Xingang West Rd, Guangzhou 510275, Guangdong, Peoples R China. EM yili5@mail.sysu.edu.cn; kang.lee@utoronto.ca FU Humanity and Social Science Youth Foundation of the Ministry of Education of China [12YJC190034]; National Natural Science Foundation of China [31200779]; Fundamental Research Funds for the Central Universities [13wkpy40]; National Institutes of Health [R01HD48962, R01HD46526]; Natural Sciences and Engineering Research Council of Canad; Social Sciences and Humanities Research Council of Canada FX This work was supported by grants from the Humanity and Social Science Youth Foundation of the Ministry of Education of China (12YJC190034), the National Natural Science Foundation of China (31200779), the Fundamental Research Funds for the Central Universities (13wkpy40), and grants from National Institutes of Health (R01HD48962 and R01HD46526) and Natural Sciences and Engineering Research Council of Canada; Grant sponsor: the Social Sciences and Humanities Research Council of Canada. 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PD FEB PY 2014 VL 7 IS 1 BP 72 EP 83 DI 10.1002/aur.1340 PG 12 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300008 PM 24124133 ER PT J AU Au-Yeung, SK Kaakinen, JK Benson, V AF Au-Yeung, Sheena K. Kaakinen, Johanna K. Benson, Valerie TI Cognitive Perspective-Taking During Scene Perception in Autism Spectrum Disorder: Evidence From Eye Movements SO AUTISM RESEARCH LA English DT Article DE autism; Asperger's syndrome; theory of mind; information processing; eye movements; scene perception ID ASPERGER-SYNDROME; REVISED VERSION; ATTENTION; MIND AB The present study examined how eye movements during scene viewing are modulated by adopting psychological perspectives in both adults with autism spectrum disorders (ASD) and typically developing adults. In the current study, participants viewed house scenes with either non-perspective-taking (look for valuable items/features of the house that need fixing) or perspective-taking instructions (imagine that you are a burglar/repairman) while their eye movements were recorded. The eye movement measures revealed that for the look for the valuable items and burglar perspective task, the ASD group showed typical relevance effects (the preference to look at schema-relevant compared with schema-irrelevant targets) in their eye movements. However, we found subtle processing differences between the groups that were related to initial orienting to and processing of schema-relevant items for the look for the features that need fixing and the repairman perspective-taking task. There was an absence of a relevance effect for the ASD group for the repairman perspective and its non-perspective-taking equivalent instruction showing that the identification of items relevant to those schemas was more difficult for the ASD group. The present findings suggest that resolving ambiguity may be a defining feature of complex information processing deficits in ASD. Autism Res 2014, 7: 84-93. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Au-Yeung, Sheena K.; Benson, Valerie] Univ Southampton, Sch Psychol, Southampton SO17 1BJ, Hants, England. [Kaakinen, Johanna K.] Univ Turku, Dept Psychol, Turku, Finland. RP Benson, V (reprint author), Univ Southampton, Sch Psychol, Shackleton Bldg, Southampton SO17 1BJ, Hants, England. EM V.Benson@soton.ac.uk FU Economic and Social Research Council (ESRC) [ES/1019723/1] FX This work was supported by the Economic and Social Research Council (ESRC Reference Number: ES/1019723/1). We would like to thank our participants, their carers, and the staff of the Southampton Adult Asperger's Society, the University of Southampton, the Hampshire Autistic Society, the Autism Diagnostic and Research Centre, the National Autistic Society, and the Children on the Autistic Spectrum Parents' Association for supporting our research. The authors declare no conflict of interest. CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Au-Yeung S. 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PD FEB PY 2014 VL 7 IS 1 BP 84 EP 93 DI 10.1002/aur.1352 PG 10 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300009 PM 24265216 ER PT J AU Madsen, GF Bilenberg, N Cantio, C Oranje, B AF Madsen, Gitte Falcher Bilenberg, Niels Cantio, Cathriona Oranje, Bob TI Increased Prepulse Inhibition and Sensitization of the Startle Reflex in Autistic Children SO AUTISM RESEARCH LA English DT Article DE autism spectrum disorders; PPI; sensorimotor gating; sensitization; children; auditory processing ID SENSORIMOTOR GATING DEFICITS; PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; ACOUSTIC STARTLE; 1ST-EPISODE SCHIZOPHRENIA; NEUROMOTOR PRECURSORS; DIAGNOSTIC INTERVIEW; ANTIPSYCHOTIC-NAIVE; EMOTIONAL FACES; BIRTH COHORT AB The relation between autism spectrum disorders (ASD) and schizophrenia is a subject of intense debate and research due to evidence of common neurobiological pathways in the two disorders. The objective of this study was to explore whether deficits in prepulse inhibition (PPI) of the startle reflex, as usually seen in schizophrenic patients, can be replicated in a group of children with ASD in comparison with a group of matched neuro-typically developed (NTD) controls. An additional aim was to explore possible psychophysiological subgroups within our ASD sample. In a case-control design, 35 ASD patients and 40 matched NTD controls were tested in a psychophysiological test battery. The PPI of the acoustic startle reflex was analyzed in 18 ASD subjects and 34 NTD controls. Habituation and sensitization were analyzed in 23 ASD subjects and 39 NTD controls. In trials with less intense prestimuli (76dB), patients with ASD did not display the drop in percentage PPI normally found in healthy controls. In addition, ASD patients showed significantly increased sensitization compared with NTD controls. Combined, our results may reflect the hypersensitivity to sensory information in children with ASD. The relation to PPI deficits observed in schizophrenia is not apparent. Future research should study the developmental course of PPI deficits in ASD patients in a longitudinal design. AutismRes 2014, 7: 94-103. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Madsen, Gitte Falcher; Bilenberg, Niels; Cantio, Cathriona] Univ Southern Denmark, Dept Child & Adolescent Mental Hlth Odense, Fac Hlth Sci, Res Unit Univ Funct, Glostrup, Denmark. [Oranje, Bob] Univ Copenhagen, Copenhagen Univ Hosp, Dept Neurol Psychiat & Sensory Sci, Psychiat Ctr Glostrup,Fac Hlth Sci,CNSR, Glostrup, Denmark. [Oranje, Bob] Univ Copenhagen, Ctr Clin Intervent & Neuropsychiat Schizophrenia, Dept Neurol Psychiat & Sensory Sci,Fac Hlth Sci, Copenhagen Univ Hosp,Psychiat Ctr Glostrup, Glostrup, Denmark. RP Madsen, GF (reprint author), Child & Adolescent Psychiat Dept, Sdr Blvd 29, DK-5000 Odense C, Denmark. EM gitte.falcher.madsen1@rsyd.dk RI Bilenberg, Niels/I-6027-2014 FU Psychiatric Research Foundation in the Region of Southern Denmark [09-5810]; Gangsted Foundation [1415-8436]; Fru Hermansens Foundation [00962-0001] FX This study was supported by The Psychiatric Research Foundation in the Region of Southern Denmark grant 09-5810; Gangsted Foundation grant 1415-8436, and Fru Hermansens Foundation grant 00962-0001. 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PD FEB PY 2014 VL 7 IS 1 BP 94 EP 103 DI 10.1002/aur.1337 PG 10 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300010 PM 24124111 ER PT J AU Laycock, R Cross, AJ Nogare, FD Crewther, SG AF Laycock, Robin Cross, Alana Jade Nogare, Felicity Dalle Crewther, Sheila Gillard TI Self-Rated Social Skills Predict Visual Perception: Impairments in Object Discrimination Requiring Transient Attention Associated with High Autistic Tendency SO AUTISM RESEARCH LA English DT Article DE autism; dorsal stream; ventral stream; object discrimination; attention ID SPECTRUM DISORDER; FUNCTIONING AUTISM; BIOLOGICAL MOTION; RECOGNITION; FACE; COHERENCE; ADOLESCENTS; ACTIVATION; MECHANISM; DYSLEXIA AB Autism is usually defined by impairments in the social domain but has also been linked to deficient dorsal visual stream processing. However, inconsistent findings make the nature of this relationship unclear and thus, we examined the role of stimulus-driven transient attention, presumably activated by the dorsal stream in autistic tendency. Contrast thresholds for object discrimination were compared between groups with high and low self-rated autistic tendency utilizing the socially based Autism Spectrum Quotient (AQ). Visual stimuli were presented with either abrupt or with ramped contrast onsets/offsets in order to manipulate the demands of transient attention. Larger impairments in performance of abrupt compared with ramped object presentation were established in the high AQ group. Furthermore, self-reported social skills predicted abrupt task performance, suggesting an important visual perception deficiency in autism-related traits. Autism spectrum disorder may be associated with reduced utilization of the dorsal stream to rapidly activate attention prior to ventral stream processing when stimuli are transient. Autism Res 2014, 7: 104-111. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Laycock, Robin; Cross, Alana Jade; Nogare, Felicity Dalle; Crewther, Sheila Gillard] La Trobe Univ, Sch Psychol Sci, Melbourne, Vic, Australia. RP Laycock, R (reprint author), La Trobe Univ, Sch Psychol Sci, Bundoora, Vic 3086, Australia. EM r.laycock@latrobe.edu.au FU Australian Research Council [DP0985837] FX We thank Ben Ong for assistance with data analysis. This work was supported by the Australian Research Council (Discovery Project, DP0985837). The authors have no conflicts of interest to declare. 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Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Cassidy, Sarah; Ropar, Danielle; Mitchell, Peter; Chapman, Peter] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England. 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Imaging genetic animal models that recapitulate a mutation associated with autism quantify the impact of genetics on brain morphology and mitigate the confounding factors in human studies. Here, we used MRI to image three genetic mouse models with single mutations implicated in autism: Neuroligin-3 R451C knock-in, Methyl-CpG binding protein-2 (MECP2) 308-truncation and integrin 3 homozygous knockout. This study identified the morphological differences specific to the cerebellum, a structure repeatedly linked to autism in human neuroimaging and postmortem studies. To accomplish a comparative analysis, a segmented cerebellum template was created and used to segment each study image. This template delineated 39 different cerebellar structures. For Neuroligin-3 R451C male mutants, the gray (effect size (ES)=1.94, FDRq=0.03) and white (ES=1.84, q=0.037) matter of crus II lobule and the gray matter of the paraflocculus (ES=1.45, q=0.045) were larger in volume. The MECP2 mutant mice had cerebellar volume changes that increased in scope depending on the genotype: hemizygous males to homozygous females. The integrin 3 mutant mouse had a drastically smaller cerebellum than controls with 28 out of 39 cerebellar structures smaller. These imaging results are discussed in relation to repetitive behaviors, sociability, and learning in the context of autism. This work further illuminates the cerebellum's role in autism. Autism Res 2014, 7: 124-137. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Steadman, Patrick E.; Ellegood, Jacob; Henkelman, R. Mark; Lerch, Jason P.] Hosp Sick Children, Mouse Imaging Ctr, Toronto, ON M5T 3H7, Canada. [Steadman, Patrick E.; Henkelman, R. Mark; Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada. [Szulc, Kamila U.; Turnbull, Daniel H.] Skirball Inst Biomol Med, New York, NY USA. [Szulc, Kamila U.; Turnbull, Daniel H.] NYU, Dept Radiol, Sch Med, New York, NY 10016 USA. 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PD FEB PY 2014 VL 7 IS 1 BP 124 EP 137 DI 10.1002/aur.1344 PG 14 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300013 PM 24151012 ER PT J AU Kovac, J Luksic, MM Podkrajsek, KT Klancar, G Battelino, T AF Kovac, Jernej Luksic, Marta Macedoni Podkrajsek, Katarina Trebusak Klancar, Gasper Battelino, Tadej TI Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder SO AUTISM RESEARCH LA English DT Article DE autism spectrum disorder; superoxide dismutase; genetic variants; oxidative stress; ROS ID DE-NOVO MUTATIONS; INCREASED OXIDATIVE STRESS; METHYLATION; GENETICS; DISEASE; ASSOCIATION; ANTIOXIDANT; GLUTATHIONE; BIOMARKERS; CHILDREN AB Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder (ASD). We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting (HRM) analysis, we identified two rare single nucleotide polymorphisms (SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 (SOD1) gene and have a minor allele frequency in healthy population approximate to 5%. The SNP c.239+34A>C (rs2234694) and SNP g.3341C>G (rs36233090) were detected with an odds ratio of 2.65 and P<0.01. Both are located in the noncoding potentially regulatory regions of the SOD1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. Autism Res 2014, 7: 138-144. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Kovac, Jernej; Klancar, Gasper; Battelino, Tadej] Univ Childrens Hosp, UMC Ljubljana, Dept Endocrinol Diabet & Metab Dis, SI-1000 Ljubljana, Slovenia. [Luksic, Marta Macedoni] Univ Childrens Hosp, UMC Ljubljana, Dept Child Adolescent & Dev Neurol, Ctr Autism, SI-1000 Ljubljana, Slovenia. [Podkrajsek, Katarina Trebusak] Univ Childrens Hosp, UMC Ljubljana, Ctr Med Genet, SI-1000 Ljubljana, Slovenia. RP Battelino, T (reprint author), Univ Childrens Hosp, UMC Ljubljana, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia. EM tadej.battelino@mf.uni-lj.si FU Slovenian National Research Agency [J3-2412, P3-0343] FX This study was supported by the Slovenian National Research Agency grants J3-2412 and P3-0343. No potential conflicts of interest relevant to this article were reported. 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PD FEB PY 2014 VL 7 IS 1 BP 138 EP 144 DI 10.1002/aur.1345 PG 7 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300014 PM 24155217 ER PT J AU Yoo, HJ Bahn, G Cho, IH Kim, EK Kim, JH Min, JW Lee, WH Seo, JS Jun, SS Bong, G Cho, S Shin, MS Kim, BN Kim, JW Park, S Laugeson, EA AF Yoo, Hee-Jeong Bahn, Geonho Cho, In-Hee Kim, Eun-Kyung Kim, Joo-Hyun Min, Jung-Won Lee, Won-Hye Seo, Jun-Seong Jun, Sang-Shin Bong, Guiyoung Cho, Soochurl Shin, Min-Sup Kim, Bung-Nyun Kim, Jae-Won Park, Subin Laugeson, Elizabeth A. TI A Randomized Controlled Trial of the Korean Version of the PEERS (R) Parent-Assisted Social Skills Training Program for Teens With ASD SO AUTISM RESEARCH LA English DT Article DE social skills intervention; intervention; clinical psychiatry; adolescents; pediatrics ID AUTISM SPECTRUM DISORDERS; COGNITIVE-BEHAVIORAL THERAPY; HEALTH-CARE; CHILDREN; ANXIETY; ADOLESCENTS; DEPRESSION; MOTHERS; INTERVENTION; INVENTORY AB Impaired social functioning is a hallmark feature of autism spectrum disorder (ASD), often requiring treatment throughout the life span. PEERS (R) (Program for the Education and Enrichment of Relational Skills) is a parent-assisted social skills training for teens with ASD. Although PEERS (R) has an established evidence base in improving the social skills of adolescents and young adults with ASD in North America, the efficacy of this treatment has yet to be established in cross-cultural validation trials. The objective of this study is to examine the feasibility and treatment efficacy of a Korean version of PEERS (R) for enhancing social skills through a randomized controlled trial (RCT).The English version of the PEERS (R) Treatment Manual (Laugeson & Frankel, 2010) was translated into Korean and reviewed by 21 child mental health professionals. Items identified as culturally sensitive were surveyed by 447 middle school students, and material was modified accordingly. Participants included 47 teens between 12 and 18 years of age with a diagnosis of ASD and a verbal intelligence quotient (IQ)65. Eligible teens were randomly assigned to a treatment group (TG) or delayed treatment control group (CG). Primary outcome measures included questionnaires and direct observations quantifying social ability and problems directly related to ASD. Secondary outcome measures included scales for depressive symptoms, anxiety, and other behavioral problems. Rating scales for parental depressive symptoms and anxiety were examined to detect changes in parental psychosocial functioning throughout the PEERS (R) treatment. Independent samples t-tests revealed no significant differences at baseline across the TG and CG conditions with regard to age (14.04 +/- 1.64 and 13.54 +/- 1.50 years), IQ (99.39 +/- 18.09 & 100.67 +/- 16.97), parental education, socioeconomic status, or ASD symptoms (p<0.05), respectively. Results for treatment outcome suggest that the TG showed significant improvement in communication and social interaction domain scores on the Autism Diagnostic Observation Schedule, interpersonal relationship and play/leisure time on the subdomain scores of the Korean version of the Vineland Adaptive Behavior Scale (p's<0.01), social skills knowledge total scores on the Test of Adolescent Social Skills KnowledgeRevised (p<0.01), and decreased depressive symptoms on the Child Depression Inventory following treatment (p<0.05). Analyses of parental outcome reveal a significant decrease in maternal state anxiety in the TG after controlling for potential confounding variables (p<0.05). Despite cultural and linguistic differences, the PEERS (R) social skills intervention appears to be efficacious for teens with ASD in Korea with modest cultural adjustment. In an RCT, participants receiving the PEERS (R) treatment showed significant improvement in social skills knowledge, interpersonal skills, and play/leisure skills, as well as a decrease in depressive symptoms and ASD symptoms. This study represents one of only a few cross-cultural validation trials of an established evidence-based treatment for adolescents with ASD. Autism Res2014, 7: 145-161. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Yoo, Hee-Jeong; Bong, Guiyoung] Seoul Natl Univ, Dept Psychiat, Bundang Hosp, Songnam, South Korea. [Yoo, Hee-Jeong; Kim, Joo-Hyun; Cho, Soochurl; Shin, Min-Sup; Kim, Bung-Nyun; Kim, Jae-Won] Seoul Natl Univ, Coll Med, Seoul, South Korea. [Yoo, Hee-Jeong; Bong, Guiyoung] Seongnam Child & Adolescent Community Mental Hlth, Songnam, South Korea. [Bahn, Geonho] Kyung Hee Univ, Med Ctr, Dept Psychiat, Seoul, South Korea. [Bahn, Geonho] Kyung Hee Univ, Sch Med, Dept Psychiat, Seoul, South Korea. [Cho, In-Hee] Samsung Child Dev Res Ctr, Songnam, South Korea. [Kim, Eun-Kyung; Jun, Sang-Shin] Dankook Univ, Dept Special Educ, Yongin, South Korea. [Min, Jung-Won] Younghwa Hosp, Dept Psychiat, Inchon, South Korea. [Lee, Won-Hye] Seoul Natl Univ Hosp, Dept Clin Psychol, Seoul 110744, South Korea. [Seo, Jun-Seong] Gacheon Univ, Dept Psychiat, Gil Hosp, Inchon, South Korea. [Cho, Soochurl; Shin, Min-Sup; Kim, Bung-Nyun; Kim, Jae-Won; Park, Subin] Seoul Natl Univ Hosp, Dept Child & Adolescent Psychiat, Seoul 110744, South Korea. [Laugeson, Elizabeth A.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA. RP Laugeson, EA (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,Ste 48-243B, Los Angeles, CA 90024 USA. EM elaugeson@mednet.ucla.edu FU Seoul National University Bundang Hospital [02-2011-047]; Korea Healthcare Technology R&D Project from the Ministry of Health and Welfare, Republic of Korea [A120029] FX We are grateful to the teens and families who participated in this study. The authors thank the Medical Research Collaborating Center at Seoul National University Bundang Hospital for statistical analyses. This work was supported by a research grant (number 02-2011-047) from Seoul National University Bundang Hospital and Korea Healthcare Technology R&D Project (A120029) from the Ministry of Health and Welfare, Republic of Korea. Dr. Elizabeth Laugeson receives royalties from Routledge for sales of the PEERS (R) Treatment Manual. Dr. Hee Jeong Yoo receives royalties from Hakjisa for sales of the Korean versions of Autism Diagnostic Observation Scale and Social Communication Questionnaire. 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PD FEB PY 2014 VL 7 IS 1 BP 145 EP 161 DI 10.1002/aur.1354 PG 17 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300015 PM 24408892 ER PT J AU Sesarini, CV Costa, L Naymark, M Granana, N Cajal, AR Coto, MG Pallia, RC Argibay, PF AF Sesarini, Carla V. Costa, Lucas Naymark, Muriel Granana, Nora Cajal, Andrea R. Garcia Coto, Miguel Pallia, Roberto C. Argibay, Pablo F. TI Evidence for Interaction Between Markers in GABA(A) Receptor Subunit Genes in an Argentinean Autism Spectrum Disorder Population SO AUTISM RESEARCH LA English DT Article DE autism spectrum disorder (ASD); GABA(A) receptor subunits polymorphisms; multifactor dimensionality reduction method; Argentinean population ID LINKAGE-DISEQUILIBRIUM; EPILEPSY; ASSOCIATION; SUSCEPTIBILITY; 15Q11-Q13; ABSENCE AB Autism spectrum disorders (ASD) can be conceptualized as a genetic dysfunction that disrupts development and function of brain circuits mediating social cognition and language. At least some forms of ASD may be associated with high level of excitation in neural circuits, and gamma-aminobutyric acid (GABA) has been implicated in its etiology. Single-nucleotide polymorphisms (SNP) located within the GABA receptor (GABAR) subunit genes GABRA1, GABRG2, GABRB3, and GABRD were screened. A hundred and thirty-six Argentinean ASD patients and 150 controls were studied, and the contribution of the SNPs in the etiology of ASD was evaluated independently and/or through gene-gene interaction using multifactor dimensionality reduction (MDR) method. From the 18 SNP studied, 11 were not present in our Argentinean population (patients and controls) and 1 SNP had minor allele frequency <0.1%. For the remaining six SNPs, none provided statistical significant association with ASD when considering allelic or genotypic frequencies. Non-significant association with ASD was found for the haplotype analysis. MDR identified evidence for synergy between markers in GABRB3 (chromosome 15) and GABRD (chromosome 1), suggesting potential gene-gene interaction across chromosomes associated with increased risk for autism (testing balanced accuracy: 0.6081 and cross-validation consistency: 10/10, P<0.001). Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism, most likely via complex gene-gene interactions. Autism Res2014, 7: 162-166. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Sesarini, Carla V.; Costa, Lucas; Cajal, Andrea R.; Argibay, Pablo F.] CABA, ICBME, Buenos Aires, DF, Argentina. [Naymark, Muriel; Pallia, Roberto C.] Hosp Italiano Buenos Aires, CABA, Buenos Aires, DF, Argentina. [Granana, Nora] Hosp Durand, CABA, Buenos Aires, DF, Argentina. [Garcia Coto, Miguel] CABA, Ctr Invest Desarrollo Psiconeurol CIDEP, Buenos Aires, DF, Argentina. RP Argibay, PF (reprint author), Hosp Italiano Buenos Aires, ICBME, CABA, Potosi 4240,C1199ACL, Buenos Aires, DF, Argentina. EM pablo.argibay@hospitalitaliano.org.ar FU Fundacion para el Desarrollo de las Ciencias Basicas (FUCIBA) FX Children and their parents involved in this study are gratefully acknowledged. Mariana Sigstad (Instituto Kanner), Marcelo Aguero (Fundacion TIPNEA), Pia Espoueys (Fundacion "Nuestro Angel"), and Flavia Caligiuri (CETDIN) are thanked for collecting samples. Nicolas Quiroz is gratefully acknowledged for graphics design. Fundacion para el Desarrollo de las Ciencias Basicas (FUCIBA) is gratefully thanked for it generous financial support. 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Zwaigenbaum, Lonnie TI Classification of Functioning and Impairment: The Development of ICF Core Sets for Autism Spectrum Disorder SO AUTISM RESEARCH LA English DT Article DE neurodevelopmental disorders; autistic disorder; assessment; children and youth; psychiatry; mental health; health care; ICF; ICF Core Set ID INTERNATIONAL-CLASSIFICATION; REHABILITATION-MEDICINE; CHILDREN; POPULATION; HEALTH; COMORBIDITY; PREVALENCE; DISABILITY; SAMPLE; ADULTS AB Given the variability seen in Autism Spectrum Disorder (ASD), accurate quantification of functioning is vital to studying outcome and quality of life in affected individuals. The International Classification of Functioning, Disability and Health (ICF) provides a comprehensive, universally accepted framework for the description of health-related functioning. ICF Core Sets are shortlists of ICF categories that are selected to capture those aspects of functioning that are most relevant when describing a person with a specific condition. In this paper, the authors preview the process for developing ICF Core Sets for ASD, a collaboration with the World Health Organization and the ICF Research Branch. The ICF Children and Youth version (ICF-CY) was derived from the ICF and designed to capture the specific situation of the developing child. As ASD affects individuals throughout the life span, and the ICF-CY includes all ICF categories, the ICF-CY will be used in this project (ICF(-CY) from now on). The ICF(-CY) categories to be included in the ICF Core Sets for ASD will be determined at an ICF Core Set Consensus Conference, where evidence from four preparatory studies (a systematic review, an expert survey, a patient and caregiver qualitative study, and a clinical cross-sectional study) will be integrated. Comprehensive and Brief ICF Core Sets for ASD will be developed with the goal of providing useful standards for research and clinical practice and generating a common language for functioning and impairment in ASD in different areas of life and across the life span. Autism Res 2014, 7: 167-172. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Bolte, Sven; de Schipper, Elles] Ctr Neurodev Disorders KIND, Dept Womens & Childrens Hlth, Neuropsychiat Unit, Stockholm, Sweden. [Bolte, Sven] Stockholm Cty Council, Div Child & Adolescent Psychiat, Stockholm, Sweden. [Robison, John E.] US Dept HHS, Interagcy Autism Coordinating Comm, Washington, DC 20201 USA. [Wong, Virginia C. N.] Univ Hong Kong, Div Pediat Neurol Dev Behav Paediat & NeuroHabili, Dept Pediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China. [Selb, Melissa] DIMDI, WHO Collaborating Ctr Family Int Classificat Germ, ICF Res Branch, Nottwil, Switzerland. [Selb, Melissa] Swiss Parapleg Res SPF, Nottwil, Switzerland. [Singhal, Nidhi] Act Autism, New Delhi, India. [de Vries, Petrus J.] Univ Cape Town, Div Child & Adolescent Psychiat, ZA-7925 Cape Town, South Africa. [Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB, Canada. RP de Schipper, E (reprint author), Gavlegatan 22B,Plan 8, S-11330 Stockholm, Sweden. EM elles.de.schipper@ki.se FU Swedish Research Council [523-2009-7054]; VINNOVA [259-2012-24]; FAS; FORMAS FX The development of ICF Core Sets for ASD is supported by the Swedish Research Council (grant nr. 523-2009-7054), and the Swedish Research Council in partnership with FAS, FORMAS and VINNOVA (cross-disciplinary research program concerning children's and youth's mental health, grant nr. 259-2012-24). 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PD FEB PY 2014 VL 7 IS 1 BP 167 EP 172 DI 10.1002/aur.1335 PG 6 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA AB3PI UT WOS:000331702300017 PM 24124074 ER PT J AU Ashburner, JK Rodger, SA Ziviani, JM Hinder, EA AF Ashburner, Jill K. Rodger, Sylvia A. Ziviani, Jenny M. Hinder, Elizabeth A. TI Optimizing participation of children with autism spectrum disorder experiencing sensory challenges: A clinical reasoning framework SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE LA English DT Article DE Asperger syndrome; Autistic disorder; Client-centred enablement; Clinical reasoning; Sensation ID WEIGHTED VESTS; INTELLECTUAL DISABILITIES; ACADEMIC ENGAGEMENT; PRESCHOOL-CHILDREN; SOCIAL ATTENTION; PROBLEM BEHAVIOR; YOUNG-CHILDREN; CLASSROOM; INDIVIDUALS; INTEGRATION AB Background. Remedial sensory interventions currently lack supportive evidence and can be challenging to implement for families and clinicians. It may be timely to shift the focus to optimizing participation of children with autism spectrum disorders (ASD) through accommodation and self-regulation of their sensory differences. Purpose. A framework to guide practitioners in selecting strategies is proposed based on clinical reasoning considerations, including (a) research evidence, (b) client-and family-centredness, (c) practice contexts, (d) occupation-centredness, and (e) risks. Key issues. Information-sharing with families and coaching constitute the basis for intervention. Specific strategies are identified where sensory aversions or seeking behaviours, challenges with modulation of arousal, or sensory-related behaviours interfere with participation. Self-regulatory strategies are advocated. The application of universal design principles to shared environments is also recommended. Implications. The implications of this framework for future research, education, and practice are discussed. The clinical utility of the framework now needs to be tested. C1 [Ashburner, Jill K.] Autism Queensland, Res & Dev, Sunnybank, Qld 4109, Australia. [Ashburner, Jill K.; Ziviani, Jenny M.] Univ Queensland, Sch Hlth & Rehabil Sci, Brisbane, Qld 4072, Australia. [Rodger, Sylvia A.] Univ Queensland, Sch Hlth & Rehabil Sci, Div Occupat Therapy, Brisbane, Qld 4072, Australia. [Ziviani, Jenny M.] Queensland Hlth, Childrens Allied Hlth Res, Brisbane, Qld, Australia. [Hinder, Elizabeth A.] Darling Downs South West Queensland Reg Off, Dept Educ Training & Employment, Toowoomba, Qld 4350, Australia. RP Ashburner, JK (reprint author), Autism Queensland, POB 354, Sunnybank, Qld 4109, Australia. EM jill.ashburner@autismqld.com.au CR Alcantara JI, 2004, J CHILD PSYCHOL PSYC, V45, P1107, DOI 10.1111/j.1469-7610.2004.t01-1-00303.x American Academy of Pediatrics, 2012, PEDIATRICS, V129, P1186, DOI [10.1542/peds.2012-0876, DOI 10.1542/PEDS.2012-0876] American Psychiatric Association, 2013, DIAGN STAT MAN MENT Anderson J. M., 1998, SENSORY MOTOR ISSUES [Anonymous], 2012, AB UDL Ashburner J, 2008, AM J OCCUP THER, V62, P564 Ashburner J, 2014, AUST OCCUP THER J, V61, P110, DOI 10.1111/1440-1630.12083 Autism Society Canada, 2008, WARN WEIGHT BLANK ME Ayres A. 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A, 2004, JENISON AUTISM J, V15, P2 Hagopian LP, 2011, RES DEV DISABIL, V32, P2114, DOI 10.1016/j.ridd.2011.07.042 Hodgetts S, 2011, J AUTISM DEV DISORD, V41, P805, DOI 10.1007/s10803-010-1104-x Hodgetts S, 2011, RES AUTISM SPECT DIS, V5, P495, DOI 10.1016/j.rasd.2010.06.015 Hoffman T., 2013, EVIDENCE BASED PRACT Joosten AV, 2009, J AUTISM DEV DISORD, V39, P521, DOI 10.1007/s10803-008-0654-7 Kasner M, 2012, RES AUTISM SPECT DIS, V6, P1418, DOI 10.1016/j.rasd.2012.02.001 Kinnealey M, 2012, AM J OCCUP THER, V66, P511, DOI 10.5014/ajot.2012.004010 Koegel RL, 2004, RES PRACT PERS SEV D, V29, P122, DOI 10.2511/rpsd.29.2.122 Lang R, 2010, RES AUTISM SPECT DIS, V4, P565, DOI 10.1016/j.rasd.2010.01.006 Leew SV, 2010, CAN J OCCUP THER, V77, P113, DOI 10.2182/cjot.2010.77.2.7 Marr Deborah, 2007, Phys Occup Ther Pediatr, V27, P63, DOI 10.1300/J006v27n01_05 McCord BE, 2001, J APPL BEHAV ANAL, V34, P447, DOI 10.1901/jaba.2001.34-447 Miller LJ, 2007, AM J OCCUP THER, V61, P135 Mostafa M., 2008, INT J ARCHITECTURAL, V2, P189 Nadon G, 2011, AUTISM, V15, P98, DOI 10.1177/1362361309348943 National Autism Center, 2009, NAT STAND REP NAT ST Nelson PB, 2000, LANG SPEECH HEAR SER, V31, P356 Nicholson H, 2011, PSYCHOL SCHOOLS, V48, P198, DOI 10.1002/pits.20537 OCEBM Levels of Evidence Working Group, 2013, OXF 2011 LEV EV O'Donnell S, 2012, AM J OCCUP THER, V66, P586, DOI 10.5014/ajot.2012.004168 Oriel KN, 2011, PEDIATR PHYS THER, V23, P187, DOI 10.1097/PEP.0b013e318218f149 Petrus Christopher, 2008, Physiother Can, V60, P134, DOI 10.3138/physio.60.2.134 Prior M., 2011, REV RES IDENTIFY MOS Prizant B., 2012, AUTISM SPECTRUM SPR, P37 Prizant BM, 2003, INFANT YOUNG CHILD, V16, P296 Quigley SP, 2011, RES AUTISM SPECT DIS, V5, P529, DOI 10.1016/j.rasd.2010.06.019 Reichow B, 2010, FOCUS AUTISM DEV DIS, V25, P3, DOI 10.1177/1088357609353751 Rowe C., 2011, J OCCUPATIONAL THERA, V4, P229, DOI [10.1080/19411243.2011.629551, DOI 10.1080/19411243.2011.629551] Rutter M., 2003, AUTISM DIAGNOSTIC IN Saggers B., 2011, AUSTRALASIAN J SPECI, V35, P173, DOI [10.1375/ajse.35.2.173, DOI 10.1375/AJSE.35.2.173] Schaaf RC, 2005, MENT RETARD DEV D R, V11, P143, DOI 10.1002/mrdd.20067 Schafer EC, 2013, J COMMUN DISORD, V46, P30, DOI 10.1016/j.jcomdis.2012.09.002 Schilling DL, 2004, J AUTISM DEV DISORD, V34, P423, DOI 10.1023/B:JADD.0000037418.48587.f4 Segal R, 2006, AM J OCCUP THER, V60, P500 Sinha Y, 2011, COCHRANE LIB, V1, P1, DOI DOI 10.1002/14651858.CD003681.PUB3 Stephenson J, 2009, J AUTISM DEV DISORD, V39, P105, DOI 10.1007/s10803-008-0605-3 Thompson RM, 2013, PHYS OCCUP THER PEDI, V33, P271, DOI 10.3109/01942638.2013.768322 Umeda C, 2011, AM J OCCUP THER, V65, P152, DOI 10.5014/ajot.2011.000760 Van Rie GL, 2009, RES AUTISM SPECT DIS, V3, P783, DOI 10.1016/j.rasd.2009.03.001 Weeks S., 2012, PEDIAT HLTH MED THER, V3, P79 Wilbarger P., 1991, SENSORY DEFENSIVENES Williams M. S., 1996, DOES YOUR ENGINE RUN NR 67 TC 0 Z9 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0008-4174 EI 1911-9828 J9 CAN J OCCUP THER JI Can. J. Occup. Ther. PD FEB PY 2014 VL 81 IS 1 BP 29 EP 38 DI 10.1177/0008417413520440 PG 10 WC Rehabilitation SC Rehabilitation GA AC2DU UT WOS:000332309100005 PM 24783486 ER PT J AU Bagatell, NJ Cram, M Alvarez, CG Loehle, L AF Bagatell, Nancy J. Cram, Megan Alvarez, Christian G. Loehle, Laura TI Routines of families with adolescents with autistic disorders: A comparison study SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE LA English DT Article DE Adolescents; Autism spectrum disorders; Family; Mealtime; Routines ID SPECTRUM DISORDER; CHILDREN; RITUALS; ADULTS; INVENTORY; MOTHERS; CONTEXT AB Background. Research has consistently shown that families with children with autism spectrum disorders (ASD) have difficulty engaging in family routines, yet little is known about families with adolescents with ASD. Purpose. The purpose of this study is to compare the routines of families with adolescents with ASD (FASD) and families with typically developing adolescents. Method. Twenty families in each group were compared using the Family Routines Inventory and supplemental questions. Data were analyzed using a Mann-Whitney U and content analysis. Findings. No significant difference between groups was found; however, there was a trending toward significance in the subscale of mealtime routines in both endorsement and adherence. Analysis of open-ended questions revealed differences in how routines were carried out. Implications. Occupational therapists should consider assessing and addressing routines of importance to FASD to increase family health and well-being. Further research is needed to better understand the routines of FASD. C1 [Bagatell, Nancy J.] Univ N Carolina, Chapel Hill, NC 27599 USA. [Bagatell, Nancy J.] Quinnipiac Univ, Sch Hlth Sci, Dept Occupat Therapy, Hamden, CT USA. [Cram, Megan; Alvarez, Christian G.; Loehle, Laura] Quinnipiac Univ, Hamden, CT USA. [Alvarez, Christian G.] Westport Hlth Care Ctr, Stamford, CT USA. RP Bagatell, NJ (reprint author), Univ N Carolina, Bondurant Hall Suite 2050,CB 7122, Chapel Hill, NC 27599 USA. 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TI Shining a light on CNTNAP2: complex functions to complex disorders SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Review DE CNTNAP2; neurogenetics; language disorder ID AUTISM SPECTRUM DISORDERS; PITT-HOPKINS SYNDROME; AXON INITIAL SEGMENT; LA-TOURETTE-SYNDROME; DE-NOVO MUTATIONS; MENTAL-RETARDATION; LANGUAGE DISORDER; FOXP2 EXPRESSION; CELL-ADHESION; NEUREXIN SUPERFAMILY AB The genetic basis of complex neurological disorders involving language are poorly understood, partly due to the multiple additive genetic risk factors that are thought to be responsible. Furthermore, these conditions are often syndromic in that they have a range of endophenotypes that may be associated with the disorder and that may be present in different combinations in patients. However, the emergence of individual genes implicated across multiple disorders has suggested that they might share similar underlying genetic mechanisms. The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including autism spectrum disorder (ASD), schizophrenia, intellectual disability, dyslexia and language impairment. This review considers the evidence implicating CNTNAP2 in these conditions, the genetic risk factors and mutations that have been identified in patient and population studies and how these relate to patient phenotypes. The role of CNTNAP2 is examined in the context of larger neurogenetic networks during development and disorder, given what is known regarding the regulation and function of this gene. Understanding the role of CNTNAP2 in diverse neurological disorders will further our understanding of how combinations of individual genetic risk factors can contribute to complex conditions. C1 [Rodenas-Cuadrado, Pedro; Ho, Joses; Vernes, Sonja C.] Max Planck Inst Psycholinguist, Language & Genet Dept, NL-6525 XD Nijmegen, Netherlands. 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NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1018-4813 EI 1476-5438 J9 EUR J HUM GENET JI Eur. J. Hum. Genet. PD FEB PY 2014 VL 22 IS 2 BP 171 EP 178 DI 10.1038/ejhg.2013.100 PG 8 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 299SK UT WOS:000330415800006 PM 23714751 ER PT J AU Hobert, JA Embacher, R Mester, JL Frazier, TW Eng, C AF Hobert, Judith A. Embacher, Rebecca Mester, Jessica L. Frazier, Thomas W., II Eng, Charis TI Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article DE PTEN; autism spectrum disorder; macrocephaly; Cowden syndrome ID PREVALENCE; CHILDREN; GENE AB Unlike some other childhood neurodevelopmental disorders, no diagnostic biochemical marker has been identified in all individuals with an autism spectrum disorder (ASD). This deficit likely results from genetic heterogeneity among the population. Therefore, we evaluated a subset of individuals with ASDs, specifically, individuals with or without macrocephaly in the presence or absence of PTEN mutations. We sought to determine if amino or organic acid markers could be used to identify individuals with ASDs with or without macrocephaly in the presence or absence of PTEN mutations, and to establish the degree of macrocephaly in individuals with ASDs and PTEN mutation. Urine, blood and occipital-frontal circumference (OFC) measurements were collected from 69 individuals meeting DSM-IV-TR criteria. Urine and plasma samples were subjected to amino and organic acid analyses. PTEN was Sanger-sequenced from germline genomic DNA. Germ line PTEN mutations were identified in 27% (6/22) of the macrocephalic ASD population. All six PTEN mutation-positive individuals were macrocephalic with average OFC + 4.35 standard deviations (SDs) above the mean. No common biochemical abnormalities were identified in macrocephalic ASD individuals with or without PTEN mutations. In contrast, among the collective ASD population, elevation of urine aspartic acid (87%; 54/62), plasma taurine (69%; 46/67) and reduction of plasma cystine (72%; 46/64) were observed. PTEN sequencing should be carried out for all individuals with ASDs and macrocephaly with OFC >= 2SDs above the mean. A proportion of individuals with ASDs may have an underlying disorder in sulfur amino acid metabolism. C1 [Hobert, Judith A.; Mester, Jessica L.; Frazier, Thomas W., II; Eng, Charis] Cleveland Clin, Lerner Res Inst, Genom Med Inst, Cleveland, OH 44195 USA. [Embacher, Rebecca; Frazier, Thomas W., II] Cleveland Clin, Inst Pediat, Ctr Autism, Cleveland, OH 44195 USA. [Mester, Jessica L.; Eng, Charis] Cleveland Clin, Taussig Canc Inst, Cleveland, OH 44195 USA. [Eng, Charis] Case Western Reserve Univ, Sch Med, Dept Genet & Genome Sci, Cleveland, OH USA. [Eng, Charis] Case Western Reserve Univ, Sch Med, CASE Comprehens Canc Ctr, Cleveland, OH USA. RP Eng, C (reprint author), Cleveland Clin, Lerner Res Inst, Genom Med Inst, 9500 Euclid Ave,NE 50, Cleveland, OH 44195 USA. EM engc@ccf.org FU Pediatrics Institute Strategic Investment Funds; Cleveland Clinic; Breast Cancer Research Foundation; Sondra J and Stephen R Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic; American Cancer Society Clinical Research Professorship; FM Kirby Foundation FX We wish to acknowledge the contributions of the Genomic Medicine Biorepository, Genomic Medicine Institute, Cleveland Clinic for preparation of genomic DNA, and processing of blood and urine samples, the Eng lab and the Genomics Core Facility, Genomic Medicine Institute, Cleveland Clinic, for PCR-based Sanger sequencing and MLPA analyses. This work was funded in part, by the Pediatrics Institute Strategic Investment Funds, Cleveland Clinic (to TWF) and Breast Cancer Research Foundation (to CE). CE is the Sondra J and Stephen R Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic, and holds an American Cancer Society Clinical Research Professorship, generously funded, in part, by the FM Kirby Foundation. CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346 Adams JB, 2011, NUTR METAB, V8, DOI 10.1186/1743-7075-8-34 Baio Jon, 2012, Morbidity and Mortality Weekly Report, V61, P1 Butler MG, 2005, J MED GENET, V42, P318, DOI 10.1136/jmg.2004.024646 Buxbaum JD, 2007, AM J MED GENET B, V144B, P484, DOI 10.1002/ajmg.b.30493 C. f. D. C. a. P. 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J. Hum. Genet. PD FEB PY 2014 VL 22 IS 2 BP 273 EP 276 DI 10.1038/ejhg.2013.114 PG 4 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 299SK UT WOS:000330415800023 PM 23695273 ER PT J AU Idring, S Magnusson, C Lundberg, M Ek, M Rai, D Svensson, AC Dalman, C Karlsson, H Lee, BK AF Idring, Selma Magnusson, Cecilia Lundberg, Michael Ek, Mats Rai, Dheeraj Svensson, Anna C. Dalman, Christina Karlsson, Hakan Lee, Brian K. TI Parental age and the risk of autism spectrum disorders: findings from a Swedish population-based cohort SO INTERNATIONAL JOURNAL OF EPIDEMIOLOGY LA English DT Article DE Autism spectrum disorders; intellectual disability; risk factors; parental age ID DE-NOVO MUTATIONS; ADVANCED PATERNAL AGE; MATERNAL AGE; COMPREHENSIVE METAANALYSIS; OBSTETRIC COMPLICATIONS; GERM-CELLS; CHILDREN; BIRTH; CHILDBEARING; EPIDEMIOLOGY AB Methods: The sample consisted of 417 303 Swedish children born 1984-2003. ASD case status (N = 4746) was ascertained using national and regional registers. Smoothing splines in generalized additive models were used to estimate associations of parental age with ASD. Results: Whereas advancing parental age increased the risk of child ASD, maternal age effects were non-linear and paternal age effects were linear. Compared with mothers at the median age 29 years, those < 29 had similar risk, whereas risk increased after age 30, with an odds ratio (OR) of 1.75 [95% (CI): 1.63-1.89] at ages 40-45. For fathers, compared with the median age of 32 years, the OR for ages 55-59 was 1.39 (1.29-1.50). The risk of ASD was greater for older mothers as compared with older fathers. For example, mothers aged 40-45 (epsilon 97.2th percentile) had an estimated 18.63 (95% CI: 17.25-20.01) ASD cases per 1000 births, whereas fathers aged 55-59 (epsilon 99.7th percentile) had 16.35 (95% CI: 15.11-17.58) ASD cases per 1000 births. In analyses stratified by co-parental age, increased risk due to advancing paternal age was evident only with mothers 35 years. In contrast, advancing maternal age increased risk regardless of paternal age. Advancing parental age was more strongly associated with ASD with ID, compared with ASD without ID. Conclusions: We confirm prior findings that advancing parental age increases risk of ASD, particularly for ASD with ID, in a manner dependent on co-parental age. Although recent attention has emphasized the effects of older fathers on ASD risk, an increase of n years in maternal age has greater implications for ASD risk than a similar increase in paternal age. C1 [Idring, Selma; Magnusson, Cecilia; Lundberg, Michael; Ek, Mats; Rai, Dheeraj; Svensson, Anna C.; Dalman, Christina] Karolinska Inst, Dept Publ Hlth Sci, SE-17177 Stockholm, Sweden. [Idring, Selma] Stockholm Cty Council, Neurodev Psychiat Unit, Stockholm, Sweden. [Magnusson, Cecilia; Svensson, Anna C.; Dalman, Christina] Stockholm Cty Council, Ctr Epidemiol & Community Med, Stockholm, Sweden. [Ek, Mats] Huddinge Psychosis Outpatient Unit, Stockholm, Sweden. [Rai, Dheeraj] Univ Bristol, Sch Social & Community Med, Acad Unit Psychiat, Bristol, Avon, England. [Rai, Dheeraj] Avon & Wiltshire Partnership NHS Mental Hlth Trus, Bristol, Avon, England. [Karlsson, Hakan] Karolinska Inst, Dept Neurosci, Stockholm, Sweden. [Lee, Brian K.] Drexel Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA. [Lee, Brian K.] AJ Drexel Autism Inst, Philadelphia, PA USA. RP Idring, S (reprint author), Karolinska Inst, Dept Publ Hlth Sci, Widerstromska Huset,Tomtebodavagen 18A, SE-17177 Stockholm, Sweden. EM Selma.idring@ki.se FU Stockholm County Council; Autism Speaks [7618] FX Financial support was provided by Stockholm County Council, and Autism Speaks grant #7618. None of the above-listed funding agencies were involved in the study design, conduct of the research, data analysis and interpretation or manuscript preparation. 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Recessive X-linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000. It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (similar to 20 %) or social communication deficits, such as attention deficit hyperactivity syndrome (40 %) or autism (25 %). Autosomal recessive congenital ichthyosis (ARCI) is genetically very heterogeneous and 8 different genes have been identified so far. The most frequent cause of ARCI is a transglutaminase 1 deficiency (prevalence 1:200, 000). Mutations in keratin genes are the cause of the keratinopathic ichthyoses, such as epidermolytic ichthyosis. They manifest at birth and often feature episodes of blistering. Most of these types are inherited as autosomal dominant traits, but autosomal recessive forms have also been described on occasion. C1 [Traupe, Heiko; Oji, Vinzenz] Univ Munster, Dept Dermatol, D-48149 Munster, Germany. 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The A-TAC was administered by lay assessors and was completed on two occasions by parents of 400 individual twins, with an average interval of 70 days between test sessions. Intra-and inter-rater reliability were analysed with intraclass correlations and Cohen's kappa. A-TAC showed excellent test-retest intraclass correlations for both autism spectrum disorder and attention deficit hyperactivity disorder (each at .84). Most modules in the A-TAC had intra- and inter-rater reliability intraclass correlation coefficients of >=.60. Cohen's. indicated acceptable reliability. The current study provides statistical evidence that the A-TAC yields good test-retest reliability in a population-based cohort of children. C1 [Larson, Tomas; Anckarsater, Henrik] Lund Univ, Dept Clin Sci, Malmo, Sweden. [Kerekes, Nora; Anckarsater, Henrik; Nilsson, Thomas] Univ Gothenburg, Ctr Eth Law & Mental Hlth CELAM, Gothenburg, Sweden. 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Rep. PD FEB PY 2014 VL 114 IS 1 BP 93 EP 103 PG 11 WC Psychology, Multidisciplinary SC Psychology GA AB8WP UT WOS:000332071000008 PM 24765712 ER PT J AU Jacobson, JD Ellerbeck, KA Kelly, KA Fleming, KK Jamison, TR Coffey, CW Smith, CM Reese, RM Sands, SA AF Jacobson, Jill D. Ellerbeck, Kathryn A. Kelly, Kelsie A. Fleming, Kandace K. Jamison, T. Rene Coffey, Charles W. Smith, Catherine M. Reese, R. Matthew Sands, Scott A. TI Evidence for alterations in stimulatory G proteins and oxytocin levels in children with autism SO PSYCHONEUROENDOCRINOLOGY LA English DT Article DE Autism; G protein; Oxytocin; Signaling; Autism in early childhood; ADOS; ADI-R ID PITUITARY-ADRENAL ACTIVITY; RECURRENT ABDOMINAL-PAIN; PSYCHIATRIC-DISORDERS; SPECTRUM DISORDERS; PLASMA OXYTOCIN; ANXIETY BEHAVIOR; RECEPTOR; MODULATION; PATHOPHYSIOLOGY; VASOPRESSIN AB The neurotransmitter oxytocin plays an important role in social affiliation. Low oxytocin levels and defects in the oxytocin receptor have been reported in childhood autism. However, little is known about oxytocin's post-receptor signaling pathways in autism. Oxytocin signals via stimulatory and inhibitory G proteins. c-fos mRNA expression has been used as a marker of OT signaling as well as of G protein signaling. Herein, we hypothesized that oxytocin and its signaling pathways would be altered in children with autism. We measured plasma oxytocin levels by ELISA, G-protein and c-fos mRNA by PCR, and G proteins by immunoblot in cultured peripheral blood mononuclear cells (PBMCs) in children with autism and in age-matched controls. Males with autism displayed elevated oxytocin levels compared to controls (p < 0.05). Children with autism displayed significantly higher mRNA for stimulatory G proteins compared to controls (p < 0.05). Oxytocin levels correlated strongly positively with c-fos mRNA levels, but only in control participants (p < 0.01). Oxytocin, G-protein, and c-fos mRNA levels correlated inversely with measures of social and emotional behaviors, but only in control participants. These data suggest that children with autism may exhibit a dysregulation in oxytocin and/or its signaling pathways. (C) 2013 Published by Elsevier Ltd. C1 [Ellerbeck, Kathryn A.; Kelly, Kelsie A.; Jamison, T. Rene; Coffey, Charles W.; Smith, Catherine M.; Reese, R. Matthew] Univ Kansas, Sch Med, Ctr Child Hlth & Dev, Lawrence, KS 66045 USA. [Fleming, Kandace K.] Univ Kansas, Life Span Inst, Res Design & Anal Unit, Lawrence, KS 66045 USA. [Jacobson, Jill D.; Sands, Scott A.] Univ Missouri, Sch Med, Kansas City, MO 64108 USA. RP Jacobson, JD (reprint author), Univ Missouri, Childrens Mercy Hosp & Clin, Sch Med, Div Endocrinol & Diabet,Dept Pediat, 2401 Gillhann Rd, Kansas City, MO 64108 USA. EM jjacobson@cmh.edu FU Cure Autism Now (now merged with Autism Speaks); University of Kansas Medical Center GCRC grant [M01 RR 023940 NCRR/NIH]; Kansas Intellectual and Developmental Disabilities Research Center (NICHD) [5 P30 HD002528]; Kansas Technology Enterprise Corporation (KTEC); Kansas Center for Autism Research and Training (K-CART) FX This work was supported in part by a Pilot Grant Award (to KAE) from Cure Autism Now (now merged with Autism Speaks); by the University of Kansas Medical Center GCRC grant M01 RR 023940 NCRR/NIH, the Kansas Intellectual and Developmental Disabilities Research Center (NICHD; 5 P30 HD002528), by funding from the Kansas Technology Enterprise Corporation (KTEC; JDJ and RAE, Co-Pis), and by a grant from Kansas Center for Autism Research and Training (K-CART; JDJ and RAE, Co-Pis). The funding sources did not critique the manuscript. 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The neurobiological correlates of PTSD involve enhanced salience processing (i.e. amygdala, dorsal anterior cingulate cortex (dACC) and anterior insula (AI) hyperactivity), and reduced top-down inhibitory control over this fear response (i.e. dorsal and ventromedial prefrontal cortex (vmPFC) hypoactivity and diminished structural and functional connectivity between the vmPFC, hippocampus and amygdala). Therefore, dampening the exaggerated fear response (i.e. by reducing amygdala hyperactivity) and enhancing top-down inhibitory control (i.e. by promoting prefrontal control over the amygdala) during psychotherapy is an important target for medication-enhanced psychotherapy (MEP) in PTSD patients. Since the neuropeptide oxytocin (OT) has been found to act on these two processes, we propose that OT is a promising pharmacological agent to boost treatment response in PTSD. Human fMRI studies indicate that intranasal OT attenuates amygdala (hyper)activity and enhances connectivity of the amygdala with the vmPFC and hippocampus, resulting in increased top-down control over the fear response. In addition, intranasal OT was found to attenuate amygdala-brainstem connectivity and to change activity and connectivity in nodes of the salience network (i.e. AI and dACC). Furthermore, OT administration may modulate hypothalamus-pituitary-adrenal (HPA) axis and autonomic nervous system (ANS) function and may enhance social behaviour, which could be beneficial in the therapeutic alliance. We also discuss contextual and interindividual factors (e.g. gender and social context) which may influence the effectiveness of OT in MEP. In all, we propose that intranasal OT given prior to each psychotherapy session may be an effective additive treatment to boost treatment response in PTSD. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Koch, Saskia B. 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Y. Sobala-Drozdowski, Monica Zhou, Linghong Doering, Laurie C. Faure, Paul A. Foster, Jane A. TI Temporal and spectral differences in the ultrasonic vocalizations of fragile X knock out mice during postnatal development SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Ultrasonic vocalizations; Postnatal development; Spectral analysis; Fragile X; Autism spectrum disorders ID PRIMARY SOMATOSENSORY CORTEX; ANXIETY-LIKE BEHAVIOR; MOUSE MODEL; DENDRITIC SPINES; SOCIAL-BEHAVIOR; MUTANT MOUSE; NEURODEVELOPMENTAL DISORDERS; MATERNAL SEPARATION; UNUSUAL REPERTOIRE; INBRED STRAINS AB The fmr1 knock out (1(0) mouse has been a useful animal model to understand pathology and treatment of FXS, both anatomically and behaviorally. Ultrasonic vocalizations (USVs) are a behavioral tool to assess early life communication deficits in mice. Here, we report on the temporal and spectral features of US Vs emitted after maternal separation in wild type (FVB/N) and fmr1 KO pups at postnatal days (P) P4, P7 and P10. The results show changes in the number and duration of calls in frnr1 KO pups and wild type pups were dependent on age and call type. Fmr1 KO pups showed an increased number of USVs at P7 but not at P4 or P10. This increase was specific to Frequency Jump calls. In addition, finr1 KO mice showed a developmental shift in the temporal distribution of calls, with P10 mice calling in distinct bout patterns. Overall, these findings provide evidence that changes in USV outcomes were specific to certain call types and ages in fmr1 KO mice. Because early postnatal life is a window during which multiple neural systems activate and become established, behavioral measures such as using USVs as a measure of communication, maybe useful as a predictor of brain changes and later developmental behavioral changes. Work is needed to better understand the functional outcomes of altered development of USVs and how these changes contribute to later emergence of autistic-like behaviors in animal models of autism. (C) 2013 Elsevier B.V. All rights reserved. C1 [Lai, Jonathan K. Y.; Zhou, Linghong; Foster, Jane A.] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON L8S 4L8, Canada. [Sobala-Drozdowski, Monica; Faure, Paul A.] McMaster Univ, Dept Psychol Neurosci & Behav, Hamilton, ON L8S 4L8, Canada. [Doering, Laurie C.] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON L8S 4L8, Canada. RP Foster, JA (reprint author), McMaster Univ, St Josephs Healthcare, Brain Body Inst, Dept Psychiat & Behav Neurosci, 50 Charlton Ave E,T3308, Hamilton, ON L8N 4A6, Canada. EM jfoster@mcmaster.ca FU Natural Sciences and Engineering Research Council of Canada (NSERC); Canada Foundation for Innovation; Ontario Innovation Trust; Canadian Institute of Health Research FX Funding for this study was provided by Discovery Grants from the Natural Sciences and Engineering Research Council of Canada (NSERC - JAF and PAF), and infrastructure grants from the Canada Foundation for Innovation and the Ontario Innovation Trust (PAF). Graduate stipend support (to JKYL) was provided by Canadian Institute of Health Research - Vanier Scholarship. 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Brain Res. PD FEB 1 PY 2014 VL 259 BP 119 EP 130 DI 10.1016/j.bbr.2013.10.049 PG 12 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AB3CA UT WOS:000331667700015 PM 24211451 ER PT J AU Bissonette, GB Bae, MH Suresh, T Jaffe, DE Powell, EM AF Bissonette, Gregory B. Bae, Mihyun H. Suresh, Tejas Jaffe, David E. Powell, Elizabeth M. TI Prefrontal cognitive deficits in mice with altered cerebral cortical GABAergic interneurons SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE HGF/SF; Urokinase plasminogen activator receptor; Attentional set; Cued extinction; Morris water maze; ID-ED shift ID GROWTH FACTOR/SCATTER FACTOR; INBRED MOUSE STRAINS; ATTENTIONAL SET; GANGLIONIC EMINENCES; NEUROTROPHIC FACTOR; C57BL/6 MICE; WATER MAZE; C-MET; CORTEX; FEAR AB Alterations of inhibitory GABAergic neurons are implicated in multiple psychiatric and neurological disorders, including schizophrenia, autism and epilepsy. In particular, interneuron deficits in prefrontal areas, along with presumed decreased inhibition, have been reported in several human patients. The majority of forebrain GABAergic interneurons arise from a single subcortical source before migrating to their final regional destination. Factors that govern the interneuron populations have been identified, demonstrating that a single gene mutation may globally affect forebrain structures or a single area. In particular, mice lacking the urokinase plasminogen activator receptor (Plaur) gene have decreased GABAergic interneurons in frontal and parietal, but not caudal, cortical regions. Plaur assists in the activation of hepatocyte growth factor/scatter factor (HGF/SF), and several of the interneuron deficits are correlated with decreased levels of HGF/SF. In some cortical regions, the interneuron deficit can be remediated by endogenous overexpression of HGF/SF. In this study, we demonstrate decreased parvalbumin-expressing interneurons in the medial frontal cortex, but not in the hippocampus or basal lateral amygdala in the Plaur null mouse. The Plaur null mouse demonstrates impaired medial frontal cortical function in extinction of cued fear conditioning and the inability to form attentional sets. Endogenous HGF/SF overexpression increased the number of PV-expressing cells in medial frontal cortical areas to levels greater than found in wildtype mice, but did not remediate the behavioral deficits. These data suggest that proper medial frontal cortical function is dependent upon optimum levels of inhibition and that a deficit or excess of interneuron numbers impairs normal cognition. (C) 2013 Elsevier B.V. All rights reserved. C1 [Bissonette, Gregory B.; Powell, Elizabeth M.] Univ Maryland, Program Neurosci, Baltimore, MD 21201 USA. [Bae, Mihyun H.; Suresh, Tejas; Jaffe, David E.; Powell, Elizabeth M.] Univ Maryland, Sch Med, Dept Anat & Neurobiol, Baltimore, MD 21201 USA. [Powell, Elizabeth M.] Univ Maryland, Sch Med, Dept Psychiat, Baltimore, MD 21201 USA. RP Powell, EM (reprint author), Univ Maryland, Sch Med, Dept Anat & Neurobiol, HSF II S251,20 Penn St, Baltimore, MD 21201 USA. EM epowe001@umaryland.edu FU NIH [R01 DA018826, R01 MH57689]; NARSAD Young Investigator Award FX We thank Dr. Gabriela Martins for all her technical support and scientific discussions. This work was supported by NIH R01 DA018826, R01 MH57689 and by a NARSAD Young Investigator Award. 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Brain Res. PD FEB 1 PY 2014 VL 259 BP 143 EP 151 DI 10.1016/j.bbr.2013.10.051 PG 9 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA AB3CA UT WOS:000331667700018 PM 24211452 ER PT J AU Moy, SS Riddick, NV Nikolova, VD Teng, BL Agster, KL Nonneman, RJ Young, NB Baker, LK Nadler, JJ Bodfish, JW AF Moy, Sheryl S. Riddick, Natallia V. Nikolova, Viktoriya D. Teng, Brian L. Agster, Kara L. Nonneman, Randal J. Young, Nancy B. Baker, Lorinda K. Nadler, Jessica J. Bodfish, James W. TI Repetitive behavior profile and supersensitivity to amphetamine in the C58/J mouse model of autism SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Autism spectrum disorder; Circumscribed interests; Hyperactivity; NMDA receptor; Olfaction; SNP analysis ID SENSORIMOTOR GATING ABNORMALITIES; NMDA RECEPTOR EXPRESSION; FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; SOCIAL APPROACH; INBRED STRAINS; CIRCUMSCRIBED ATTENTION; REDUCED EXPLORATION; PREPULSE INHIBITION; KNOCKOUT MICE AB Restricted repetitive behaviors are core symptoms of autism spectrum disorders (ASDs). The range of symptoms encompassed by the repetitive behavior domain includes lower-order stereotypy and self-injury, and higher-order indices of circumscribed interests and cognitive rigidity. Heterogeneity in clinical ASD profiles suggests that specific manifestations of repetitive behavior reflect differential neuropathology. The present studies utilized a set of phenotyping tasks to determine a repetitive behavior profile for the C58/J mouse strain, a model of ASD core symptoms. In an observational screen, C58/J demonstrated overt motor stereotypy, but not over-grooming, a commonly-used measure for mouse repetitive behavior. Amphetamine did not exacerbate motor stereotypy, but had enhanced stimulant effects on locomotion and rearing in C58/J, compared to C57BL/6J. Both C58/J and Grin1 knockdown mice, another model of ASD-like behavior, had marked deficits in marble-burying. In a nose poke task for higher-order repetitive behavior, C58/J had reduced holeboard exploration and preference for non-social, versus social, olfactory stimuli, but did not demonstrate cognitive rigidity following familiarization to an appetitive stimulus. Analysis of available high-density genotype data indicated specific regions of divergence between C58/J and two highly-sociable strains with common genetic lineage. Strain genome comparisons identified autism candidate genes, including Cntnap2 and Slc6a4, located within regions divergent in C58/J. However, Grin1, Nlgn1, Sapap3, and Slitrk5, genes linked to repetitive over-grooming, were not in regions of divergence. These studies suggest that specific repetitive phenotypes can be used to distinguish ASD mouse models, with implications for divergent underlying mechanisms for different repetitive behavior profiles. (C) 2013 Elsevier B.V. All rights reserved. C1 [Moy, Sheryl S.; Riddick, Natallia V.; Teng, Brian L.; Agster, Kara L.; Nonneman, Randal J.; Young, Nancy B.; Baker, Lorinda K.; Nadler, Jessica J.; Bodfish, James W.] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA. [Moy, Sheryl S.; Riddick, Natallia V.; Nikolova, Viktoriya D.; Agster, Kara L.; Young, Nancy B.; Baker, Lorinda K.; Bodfish, James W.] Univ N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA. [Teng, Brian L.] Univ N Carolina, Sch Med, Dept Chem Biol & Med Chem, Chapel Hill, NC 27599 USA. [Nonneman, Randal J.; Nadler, Jessica J.] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27599 USA. RP Moy, SS (reprint author), Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, CB 7146, Chapel Hill, NC 27599 USA. EM ssmoy@med.unc.edu FU NIMH [MH084132, MH080069, MH73402]; NICHD [P30 HD03110]; NIH STAART [U54 MH66418]; Autism Speaks Translational Postdoctoral Fellowship [7952] FX Support for these studies was contributed by NIMH grants MH084132, MH080069, MH73402, NICHD grant P30 HD03110, and NIH STAART grant U54 MH66418. Brian L. Teng was funded by an Autism Speaks Translational Postdoctoral Fellowship (#7952). These sponsors did not have involvement in study design, data collection, analysis, or interpretation, writing the report, or decision to submit the article for publication. We are grateful for the contribution of Leah Jania and Rebecca Dye, who conducted the genotyping assays for the Grin1 mice. 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PD FEB PY 2014 VL 77 IS 2 BP 121 EP 121 PG 1 WC Rehabilitation SC Rehabilitation GA AB3KE UT WOS:000331688900015 ER PT J AU Anderson, G Maes, M AF Anderson, George Maes, Michael TI Reconceptualizing Adult Neurogenesis: Role for Sphingosine-1-Phosphate and Fibroblast Growth Factor-1 in Co-Ordinating Astrocyte-Neuronal Precursor Interactions SO CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS LA English DT Article DE Neurogenesis; sphingosine-1-phosphate; fibroblast growth factor 1; melatonin; astrocyte; progenitors; notch; N-acetylserotonin ID NEURAL PROGENITOR CELLS; METABOTROPIC GLUTAMATE RECEPTORS; AUTISM SPECTRUM DISORDERS; CENTRAL-NERVOUS-SYSTEM; SPHINGOSINE KINASE 1; HIPPOCAMPAL NEUROGENESIS; VALPROIC ACID; STEM-CELLS; EPHRIN-B; DENTATE GYRUS AB Despite the powerful induction of neurogenesis by sphingosine-1-phosphate (S1P), its study in the role of adult neurogenesis has been relatively neglected. S1P, via its differential effects at different S1P receptor subtypes, is a significant determinant of neuronal precursor/stem cell and astrocyte cellular organization. The variations in neurogenesis, classically modelled via the interactions of phosphatase and tensin homolog and Notch, are intimately associated with the co-ordinated regulation of S1P and fibroblast growth factor-1. Incorporating S1P better explains the plasticity and cellular variations in astrocytes and progenitors as well as their interactions. This has treatment implications for both inducing and inhibiting neurogenesis, in conditions such as depression and macrocephaly associated autistic spectrum disorders respectively. Incorporating S1P and fibroblast growth factor-1 also provides a framework for conceptualizing the impact of peripheral inflammation, central inflammation, redox status and medication effects on neurogenesis, as well as future treatment targets. 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Disord.-Drug Targets PD FEB PY 2014 VL 13 IS 1 BP 126 EP 136 PG 11 WC Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA AB6DW UT WOS:000331878800018 PM 24040808 ER PT J AU Selassie, AW Wilson, DA Martz, GU Smith, GG Wagner, JL Wannamaker, BB AF Selassie, Anbesaw W. Wilson, Dulaney A. Martz, Gabriel U. Smith, Georgette G. Wagner, Janelle L. Wannamaker, Braxton B. TI Epilepsy beyond seizure: A population-based study of comorbidities SO EPILEPSY RESEARCH LA English DT Article DE Epilepsy; Comorbidity; Epidemiology; Migraine; Mortality; Risk set ID INCIDENT UNPROVOKED SEIZURES; SCHIZOPHRENIA-LIKE PSYCHOSIS; CHILDHOOD-ONSET EPILEPSY; MULTIPLE-SCLEROSIS; PSYCHIATRIC COMORBIDITY; SOMATIC COMORBIDITY; GENERAL-POPULATION; ALZHEIMER-DISEASE; RISK-FACTOR; EPIDEMIOLOGY AB Comorbid conditions may affect the quality of life in persons with epilepsy (PWE) more than seizures. Using legally mandated healthcare encounter data, somatic, psychiatric, and neurodevelopmental comorbidities in a large population-based cohort of PWE, were compared to persons with migraine (PWM), a similar neurologic condition, and lower extremity fracture (PWLF), otherwise healthy controls. 64,188 PWE, 121,990 PWM, and 89,808 PWLF were identified from inpatient, outpatient, and emergency department from 2000 to 2011. Epilepsy was ascertained with ICD-9-CM code 345; migraine with 346; fracture of the tibia, fibula, and ankle with 823 and 824. Common comorbidities of epilepsy were identified from the literature. Differences in prevalence among PWE, PWM, and PWLF were assessed by comparison of 95% confidence intervals (CI) constructed under the assumption of independence and normal approximation. The association of the comorbid conditions with epilepsy and migraine, compared to tower extremity fracture, were evaluated with polytomous logistic regression controlling for demographic and mortality covariables. PWE had significantly elevated prevalence of comorbidities compared with PWM and PWLF. Compared with PWLF, the adjusted odds ratios (OR) of having both somatic and psychiatric/neurodevelopmental comorbidities were 5.44 (95% CI = 5.25-5.63) and 2.49 (95% CI = 2.42-2.55) in PWE and PWM, respectively. The association with epilepsy was the strongest for cognitive dysfunction (OR = 28.1; 95% CI = 23.3-33.8); autism spectrum disorders (OR = 22.2; 95% CI = 16.8-29.3); intellectual disability (OR = 12.9; 95% CI = 11.6-14.3); and stroke (OR = 4.2; 95% CI = 4.1-4.4). The absolute risk increase in PWE compared with PWM for any somatic or psychiatric/neurodevelopmental comorbidity was 58.8% and 94.3%, respectively. Identifying comorbidities that are strongly and consistently associated with seizures, particularly disorders with shared underlying pathophysiology, is critical in identifying specific research and practice goals that may ultimately improve the quality of life for PWE. This study contributes to that effort by providing population-based comorbidity data for PWE compared with PWM and PWLF. (C) 2013 Elsevier B.V. All rights reserved. C1 [Selassie, Anbesaw W.; Wilson, Dulaney A.; Martz, Gabriel U.; Smith, Georgette G.; Wagner, Janelle L.; Wannamaker, Braxton B.] Med Univ S Carolina, Charleston, SC USA. RP Wannamaker, BB (reprint author), 135 Cannon St,Suite 303,MSC 835, Charleston, SC 29425 USA. EM wannamab@musc.edu FU National Center for Chronic Disease Prevention and Health Promotion, the Centers for Disease Control and Prevention [DP003251] FX This study was funded by cooperative agreement DP003251 from the National Center for Chronic Disease Prevention and Health Promotion, the Centers for Disease Control and Prevention. The findings of the study and opinions presented in the manuscript are those of the authors and do not reflect the opinion of the funding agencies. The authors recognize the support of Mr. Chris Finney from the Office of Research and Statistics, South Carolina Budget and control Board, for selecting and organizing the data from multiple administrative data sources. 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C1 [Lindsay, Sally; Proulx, Meghann; Scott, Helen; Thomson, Nicole] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada. [Lindsay, Sally] Univ Toronto, Dept Occupat Sci & Occupat Therapy, Toronto, ON, Canada. [Scott, Helen] Canadian Network Maternal Newborn & Child Hlth, Peterborough, ON, Canada. [Thomson, Nicole] Univ Toronto, Grad Dept Rehabil Sci, Toronto, ON, Canada. RP Lindsay, S (reprint author), Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada. 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J. Incl. Educ. PD FEB 1 PY 2014 VL 18 IS 2 BP 101 EP 122 DI 10.1080/13603116.2012.758320 PG 22 WC Education & Educational Research SC Education & Educational Research GA AA8HH UT WOS:000331335700001 ER PT J AU Reser, JE AF Reser, Jared Edward TI Solitary Mammals Provide an Animal Model for Autism Spectrum Disorders SO JOURNAL OF COMPARATIVE PSYCHOLOGY LA English DT Article DE autism solitary; monogamous; oxytocin; vasopressin ID HIGH-FUNCTIONING AUTISM; RECEPTOR GENE OXTR; AFFILIATIVE BEHAVIOR; ASPERGER-SYNDROME; PRAIRIE VOLES; PHENOTYPIC PLASTICITY; SOCIAL-BEHAVIOR; VASOPRESSIN RECEPTOR; BIOENERGETIC THRIFT; DEFENSIVE RESPONSES AB Species of solitary mammals are known to exhibit specialized, neurological adaptations that prepare them to focus working memory on food procurement and survival rather than on social interaction. Solitary and nonmonogamous mammals, which do not :form strong social bonds, have been documented to exhibit behaviors and biomarkers that are similar to endophenotypes in autism. Both individuals on the autism spectrum and certain solitary mammals have been reported to be low on measures of affiliative need, bodily expressiveness, bonding and attachment, direct and shared gazing, emotional engagement, conspecific recognition, partner preference, separation distress, and social approach behavior. Solitary mammals also exhibit certain biomarkers that are characteristic of autism, including diminished oxytocin and vasopressin signaling, dysregulation of the endogenous opioid system, increased Hypothalamicpituitary-adrenal axis (HPA) activity to social encounters, and reduced HPA activity to separation and isolation. The extent of these similarities suggests that solitary mammals may offer a useful model of autism spectrum disorders and an opportunity for investigating genetic and epigenetic etiological factors. If the brain in autism can be shown to exhibit distinct homologous or homoplastic similarities to the brains of solitary animals, it will reveal that they may be central to the phenotype and should be targeted for further investigation. Research of the neurological, cellular, and molecular basis of these specializations in other mammals may provide insight for behavioral analysis, communication intervention, and psychopharmacology for autism. C1 [Reser, Jared Edward] Univ So Calif, Encino, CA 91436 USA. RP Reser, JE (reprint author), Univ So Calif, Brain & Cognit Sci Div, Dept Psychol, 16380 Meadow Ridge Rd, Encino, CA 91436 USA. 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Comp. Psychol. PD FEB PY 2014 VL 128 IS 1 BP 99 EP 113 DI 10.1037/a0034519 PG 15 WC Behavioral Sciences; Psychology; Psychology, Multidisciplinary; Zoology SC Behavioral Sciences; Psychology; Zoology GA AB5FZ UT WOS:000331815600011 PM 24188618 ER PT J AU [Anonymous] AF [Anonymous] TI iPads Help Children with Autism Develop Language SO JOURNAL OF PSYCHOSOCIAL NURSING AND MENTAL HEALTH SERVICES LA English DT News Item NR 0 TC 0 Z9 0 PU SLACK INC PI THOROFARE PA 6900 GROVE RD, THOROFARE, NJ 08086 USA SN 0279-3695 EI 1938-2413 J9 J PSYCHOSOC NURS MEN JI J. Psychosoc. Nurs. Ment. Health Serv. PD FEB PY 2014 VL 52 IS 2 BP 6 EP 6 PG 1 WC Nursing SC Nursing GA AB6AC UT WOS:000331868800003 ER PT J AU [Anonymous] AF [Anonymous] TI Micromovements Hold Hidden Information About Severity of Autism SO JOURNAL OF PSYCHOSOCIAL NURSING AND MENTAL HEALTH SERVICES LA English DT News Item CR [Anonymous], 2013, MICROMOVEMENTS HOLD, DOI [10.3928/02793695-20140108-02, DOI 10.3928/02793695-20140108-02] NR 1 TC 0 Z9 0 PU SLACK INC PI THOROFARE PA 6900 GROVE RD, THOROFARE, NJ 08086 USA SN 0279-3695 EI 1938-2413 J9 J PSYCHOSOC NURS MEN JI J. Psychosoc. Nurs. Ment. Health Serv. 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Rev. Genet. PD FEB PY 2014 VL 15 IS 2 BP 133 EP 141 DI 10.1038/nrg3585 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA AB6JL UT WOS:000331894200012 PM 24430941 ER PT J AU Krumm, N O'Roak, BJ Shendure, J Eichler, EE AF Krumm, Niklas O'Roak, Brian J. Shendure, Jay Eichler, Evan E. TI A de novo convergence of autism genetics and molecular neuroscience SO TRENDS IN NEUROSCIENCES LA English DT Review ID COPY-NUMBER VARIATION; CHROMATIN REMODELING COMPLEX; HISTONE H1 RECRUITMENT; SPECTRUM DISORDERS; MENTAL-RETARDATION; DOWN-SYNDROME; INTELLECTUAL DISABILITY; MICRODELETION SYNDROME; ENVIRONMENTAL-FACTORS; DEVELOPMENTAL DELAY AB Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental disorders with large genetic components, but identification of pathogenic genes has proceeded slowly because hundreds of loci are involved. New exome sequencing technology has identified novel rare variants and has found that sporadic cases of ASD/ID are enriched for disruptive de novo mutations. Targeted large-scale resequencing studies have confirmed the significance of specific loci, including chromodomain helicase DNA binding protein 8 (CHD8), sodium channel, voltage-gated, type II, alpha subunit (SCN2A), dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A), and catenin (cadherin-associated protein), beta 1, 88 kDa (CTNNB1, beta-catenin). We review recent studies and suggest that they have led to a convergence on three functional pathways: (i) chromatin remodeling; (ii) wnt signaling during development; and (iii) synaptic function. These pathways and genes significantly expand the neurobiological targets for study, and suggest a path for future genetic and functional studies. C1 [Krumm, Niklas; O'Roak, Brian J.; Shendure, Jay; Eichler, Evan E.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. [Eichler, Evan E.] Univ Washington, Sch Med, Howard Hughes Med Inst, Seattle, WA USA. RP Eichler, EE (reprint author), Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. 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10.1038/nature09855 NR 89 TC 34 Z9 37 PU ELSEVIER SCIENCE LONDON PI LONDON PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND SN 0166-2236 J9 TRENDS NEUROSCI JI Trends Neurosci. PD FEB PY 2014 VL 37 IS 2 BP 95 EP 105 DI 10.1016/j.tins.2013.11.005 PG 11 WC Neurosciences SC Neurosciences & Neurology GA AB3JO UT WOS:000331687300005 PM 24387789 ER PT J AU Roberts, J Torres-Martinez, W Farrow, E Stevens, A Delk, P White, KE Weaver, DD AF Roberts, Jessica Torres-Martinez, Wilfredo Farrow, Emily Stevens, Abby Delk, Paula White, Kenneth E. Weaver, David D. TI A Case of Robin Sequence, Microgastria, Radiohumeral Synostosis, Femoral Deficiency, and Other Unusual Findings: A Newly Recognized Syndrome? SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE radiohumeral synostosis; microgastria; proximal femoral deficiency; Robin sequence; autism spectrum disorder; cryptorchidism; congenital hip dislocations ID ANTLEY-BIXLER-SYNDROME; UNUSUAL FACIES SYNDROME; CONGENITAL MICROGASTRIA AB In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown. (c) 2013 Wiley Periodicals, Inc. C1 [Roberts, Jessica; Torres-Martinez, Wilfredo; Stevens, Abby; Delk, Paula; White, Kenneth E.; Weaver, David D.] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA. [Farrow, Emily] Childrens Mercy Hosp & Clin, Pediat Ctr Genom Med, Kansas City, KS USA. RP Roberts, J (reprint author), 3980 John R,4 Webber North,Box 160, Detroit, MI 48201 USA. 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J. Med. Genet. A PD FEB PY 2014 VL 164 IS 2 BP 287 EP 290 DI 10.1002/ajmg.a.36273 PG 4 WC Genetics & Heredity SC Genetics & Heredity GA AA4LM UT WOS:000331067100001 PM 24311538 ER PT J AU Palmer, E Speirs, H Taylor, PJ Mullan, G Turner, G Einfeld, S Tonge, B Mowat, D AF Palmer, Emma Speirs, Helen Taylor, Peter J. Mullan, Glenda Turner, Gill Einfeld, Stewart Tonge, Bruce Mowat, David TI Changing Interpretation of Chromosomal Microarray Over Time in a Community Cohort With Intellectual Disability SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE aberrations; chromosome; intellectual disability; diagnostic test; oligonucleotide array ID COPY-NUMBER VARIANTS; MENTAL-RETARDATION; CONGENITAL-ANOMALIES; DEVELOPMENTAL DELAY; HUMAN GENOME; UNCERTAINTIES; DISORDERS; RESOURCES; CHILDREN AB Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)usually rare, unreported genetic variants. Laboratories differ in their threshold for reporting VOUS, and clinical practice varies in how this information is conveyed to the family and what follow-up is arranged. Workflows, websites, and databases are constantly being updated to aid the interpretation of VOUS. There is a growing literature reporting new microdeletion and duplication syndromes, susceptibility, and modifier copy number variants (CNVs). Diagnostic methods are also evolving with new array platforms and genome builds. In 2010, high-resolution arrays (Affymetrix 2.7M Oligo and SNP, 50kB resolution) were performed on a community cohort of 67 individuals with intellectual disability of unknown aetiology. Three hundred and one CNVs were detected and analyzed using contemporary resources and a simple scoring system. Thirteen (19%) of the arrays were assessed as potentially pathogenic, 4 (6%) as benign and 50 (75%) of uncertain clinical significance. The CNV data were re-analyzed in 2012 using the contemporary interpretative resources. There was a statistically significant difference in the assessment of individual CNVs (P<0.0001). An additional eight patients were reassessed as having a potentially pathogenic array (n=21, 31%) and several additional susceptibility or modifier CNVs were identified. This study highlights the complexity involved in the interpretation of CMA and uniquely demonstrates how, even on the same array platform, it can be subject to change over time. (c) 2013 Wiley Periodicals, Inc. C1 [Palmer, Emma; Mowat, David] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW, Australia. [Palmer, Emma; Mowat, David] Univ NSW, Sch Womens & Childrens Hlth, Sydney, NSW, Australia. [Speirs, Helen] Univ NSW, Ramaciotti Ctr Gene Funct Anal, Sydney, NSW, Australia. [Taylor, Peter J.] South Eastern Area Lab Serv, Sydney, NSW, Australia. [Turner, Gill] Hunter Area Hlth Serv, Newcastle, NSW, Australia. [Turner, Gill] Univ Sydney, Sydney, NSW 2006, Australia. [Einfeld, Stewart] Univ Sydney, Brain & Mind Res Inst, Ctr Disabil Res & Policy, Sydney, NSW 2006, Australia. [Tonge, Bruce] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic, Australia. RP Mowat, D (reprint author), Sydney Childrens Hosp, Dept Med Genet, High St, Randwick, NSW, Australia. EM david.mowat@unsw.edu.au FU Welcome Trust FX Grant sponsor: Welcome Trust. 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J. Med. Genet. A PD FEB PY 2014 VL 164 IS 2 BP 377 EP 385 DI 10.1002/ajmg.a.36279 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA AA4LM UT WOS:000331067100014 PM 24311194 ER PT J AU Takenouchi, T Hashida, N Torii, C Kosaki, R Takahashi, T Kosaki, K AF Takenouchi, Toshiki Hashida, Noriko Torii, Chiharu Kosaki, Rika Takahashi, Takao Kosaki, Kenjiro TI 1p34.3 Deletion Involving GRIK3: Further Clinical Implication of GRIK Family Glutamate Receptors in the Pathogenesis of Developmental Delay SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE GRIK3; glutamate receptor; developmental delay ID MOSSY FIBER SYNAPSES; GLUTAMATE-RECEPTOR-6 GENE; KAINATE RECEPTORS; BIPOLAR DISORDER; DE-NOVO; ASSOCIATION; SCHIZOPHRENIA; AUTISM; SUBUNIT; 16P11.2 AB A growing body of evidence suggests an association between microdeletion/microduplication and schizophrenia/intellectual disability. Abnormal neurogenesis and neurotransmission have been implicated in the pathogenesis of these neuropsychiatric and neurodevelopmental disorders. The kainate/AMPA-type ionotropic glutamate receptor (GRIK=glutamate receptor, ionotropic, kainate) plays a critical role in synaptic potentiation, which is an essential process for learning and memory. Among the five known GRIK family members, haploinsufficiency of GRIK1, GRIK2, and GRIK4 are known to cause developmental delay, whereas the roles of GRIK3 and GRIK5 remain unknown. Herein, we report on a girl who presented with a severe developmental delay predominantly affecting her language and fine motor skills. She had a 2.6-Mb microdeletion in 1p34.3 involving GRIK3, which encodes a principal subunit of the kainate-type ionotropic glutamate receptor. Given its strong expression pattern in the central nervous system and the biological function of GRIK3 in presynaptic neurotransmission, the haploinsufficiency of GRIK3 is likely to be responsible for the severe developmental delay in the proposita. A review of genetic alterations and the phenotypic effects of all the GRIK family members support this hypothesis. The current observation of a microdeletion involving GRIK3, a kainate-type ionotropic glutamate receptor subunit, and the neurodevelopmental manifestation in the absence of major dysmorphism provides further clinical implication of the possible role of GRIK family glutamate receptors in the pathogenesis of developmental delay. (c) 2013 Wiley Periodicals, Inc. C1 [Takenouchi, Toshiki; Hashida, Noriko; Takahashi, Takao] Keio Univ, Sch Med, Dept Pediat, Tokyo 1608582, Japan. [Torii, Chiharu; Kosaki, Kenjiro] Keio Univ, Sch Med, Ctr Med Genet, Tokyo 1608582, Japan. [Kosaki, Rika] Natl Ctr Child Hlth & Dev, Div Med Genet, Tokyo, Japan. RP Kosaki, K (reprint author), Keio Univ, Sch Med, Ctr Med Genet, Shinjuku Ku, 35 Shinanomachi, Tokyo 1608582, Japan. EM kkosaki@z3.keio.jp FU Research on Applying Health Technology [H23-013]; Ministry of Health, Labour and Welfare, Japan FX Grant sponsor: Research on Applying Health Technology; Grant number: H23-013; Grant sponsor: Ministry of Health, Labour and Welfare, Japan. 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J. Med. Genet. A PD FEB PY 2014 VL 164 IS 2 BP 456 EP 460 DI 10.1002/ajmg.a.36240 PG 5 WC Genetics & Heredity SC Genetics & Heredity GA AA4LM UT WOS:000331067100025 PM 24449200 ER PT J AU Magoulas, PL Liu, PF Gelowani, V Soler-Alfonso, C Kivuva, EC Lupski, JR Potocki, L AF Magoulas, Pilar L. Liu, Pengfei Gelowani, Violet Soler-Alfonso, Claudia Kivuva, Emma C. Lupski, James R. Potocki, Lorraine TI Inherited dup(17)(p11.2p11.2): Expanding the Phenotype of the Potocki-Lupski Syndrome SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A LA English DT Article DE Potocki-Lupski syndrome; PTLS; RAI1; microduplication syndrome; dosage sensitivity ID HYPOPLASTIC LEFT-HEART; DUPLICATION 17P11.2; HOMOLOGOUS RECOMBINATION; DELETION AB Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.6Mb microdeletion in the Smith-Magenis syndrome critical region. Here, we report on the transmission of the PTLS duplication across two generations in two separate families. Individuals in these families presented initially with developmental delay, behavior problems, and intellectual disability. We provide a detailed review of the clinical and developmental phenotype of inherited PTLS in both families. This represents the second report (second and third families) of PTLS in a parent-child pair and exemplifies the under-diagnosis of this and likely other genetic conditions in adults with intellectual disability and/or psychiatric disorders. (c) 2013 Wiley Periodicals, Inc. C1 [Magoulas, Pilar L.; Liu, Pengfei; Gelowani, Violet; Lupski, James R.; Potocki, Lorraine] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Soler-Alfonso, Claudia] Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Med Genet, Houston, TX 77030 USA. [Kivuva, Emma C.] Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England. [Lupski, James R.] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA. [Magoulas, Pilar L.; Lupski, James R.; Potocki, Lorraine] Texas Childrens Hosp, Houston, TX 77030 USA. RP Potocki, L (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. 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J. Med. Genet. A PD FEB PY 2014 VL 164 IS 2 BP 500 EP 504 DI 10.1002/ajmg.a.36287 PG 5 WC Genetics & Heredity SC Genetics & Heredity GA AA4LM UT WOS:000331067100034 PM 24311450 ER PT J AU Rees, E Walters, JTR Georgieva, L Isles, AR Chambert, KD Richards, AL Mahoney-Davies, G Legge, SE Moran, JL McCarroll, SA O'Donovan, MC Owen, MJ Kirov, G AF Rees, Elliott Walters, James T. R. Georgieva, Lyudmila Isles, Anthony R. Chambert, Kimberly D. Richards, Alexander L. Mahoney-Davies, Gerwyn Legge, Sophie E. Moran, Jennifer L. McCarroll, Steven A. O'Donovan, Michael C. Owen, Michael J. Kirov, George TI Analysis of copy number variations at 15 schizophrenia-associated loci SO BRITISH JOURNAL OF PSYCHIATRY LA English DT Article ID RARE CHROMOSOMAL DELETIONS; CARDIO-FACIAL SYNDROME; RECURRENT MICRODELETIONS; DUPLICATIONS; AUTISM; POPULATION; VARIANTS; 16P11.2; GENE; CNVS AB Background A number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the frequency in individuals with schizophrenia is uncertain. Aims To determine the contribution of CNVs at 15 schizophrenia-associated loci (a) using a large. new data-set of patients with schizophrenia (n=6882) and controls (n = 6316), and (b) combining our results with those from previous studies. Method We used Illumina microarrays to analyse our data. Analyses were restricted to 520 766 probes common to all arrays used in the different data-sets. Results We found higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs. Six were nominally significantly associated (P<0.05) in this new data-set: deletions at 1q21.1, NRXN1, 15q11.2 and 22q11.2 and duplications at 16011.2 and the Angelman/Prader-Willi Syndrome (AS/PWS) region. All eight AS/PWS duplications in patients were of maternal origin. When combined with published data, 11 of the 15 loci showed highly significant evidence for association with schizophrenia (P<4.1 x 10(-4)). Conclusions We strengthen the support for the majority of the previously implicated CNVs in schizophrenia. About 2.5% of patients with schizophrenia and 0.9% of controls carry a large, detectable CNV at one of these loci. Routine CNV screening may be clinically appropriate given the high rate of known deleterious mutations in the disorder and the comorbidity associated with these heritable mutations. C1 [Rees, Elliott; Walters, James T. R.; Georgieva, Lyudmila; Isles, Anthony R.; Kirov, George] Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CB24 4HQ, S Glam, Wales. [Chambert, Kimberly D.; Moran, Jennifer L.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA. [Richards, Alexander L.; Mahoney-Davies, Gerwyn; Legge, Sophie E.; O'Donovan, Michael C.; Owen, Michael J.; Kirov, George] Cardiff Univ, Inst Psychol Med & Clin Neurosci, Ctr Neuropsychiat Genet & Genom, Cardiff CB24 4HQ, S Glam, Wales. RP Kirov, G (reprint author), Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Hadyn Ellis Bldg, Cardiff CB24 4HQ, S Glam, Wales. EM kirov@cardiff.ac.uk FU Medical Research Council (MRC) Centre [G0800509, G0801418]; European Community's Seventh Framework Programme [HEALTH-F2-2010-241909]; MRC; Wellcome Trust, UK; Biotechnology and Biological Sciences Research Council (UK); Wellcome Trust; Leverhulme Trust; MRC/Welsh Assembly Government; British Medical Association FX The work at Cardiff University was funded by Medical Research Council (MRC) Centre (G0800509) and Program Grants (G0801418) and the European Community's Seventh Framework Programme (HEALTH-F2-2010-241909 (Project EU-GEI), and an MRC PhD Studentship to E.R. M.C.O'D., M.J.O. and G K. have received funding from the MRC and the Wellcome Trust, UK. A.R.I. has received funding from the Biotechnology and Biological Sciences Research Council (UK), the Wellcome Trust and the Leverhulme Trust. 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Taylor, Julie Lounds TI Treating the Whole Person With Autism: The Proceedings of the Autism Speaks National Autism Conference SO CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; HEALTH-CARE NEEDS; RANDOMIZED CLINICAL-TRIAL; DSM-5 FIELD TRIALS; DE-NOVO MUTATIONS; SPECTRUM DISORDERS; YOUNG-ADULTS; CHILDRENS HEALTH; UNITED-STATES; MEDICAL HOME AB The identification of autism spectrum disorders has increased dramatically over the past decade, with the latest estimates indicating prevalence as high as 1 in 54 boys. There is greater awareness of medical conditions that co-occur with autism and expansion of treatment options. Closer scrutiny has led to refinement of the diagnostic criteria, and there have been advances in genetics examining potential causal factors. Transition to adulthood is an area of growing concern, and professionals and families require guidance on this issue. This article summarizes the proceedings of the Autism Speaks conference on Treating the Whole Person with Autism: Care across the Lifespan. The conference was organized with the intent of providing a forum for both families and professionals to learn about the most current research in the field. Dr. Sue Swedo provides important background information regarding the changes in the diagnostic criteria for autism spectrum disorders. She particularly deals with the concerns of individuals and families that their autism diagnosis may change. Recommendations for genetic testing and its interpretation are provided by Dr. David Miller. His discussion helps make sense of the utility of genetic testing for ASD, along with demonstration of the complexity of determining which genetic factors are doing what and through which pathways. Dr. Jeremy Veenstra-Vander-Weele provides useful background information on how medicines are initially identified and for what purpose and goes on to describe the present and future treatments in pharmacology. Medical issues are addressed by Dr. Paul Carbone, especially the coordination of comprehensive services through the medical home model of care. Dr. Julie Lounds Taylor concludes with guidance on preparation for adulthood, a topic of great importance to families as their child matures and for the professionals who will help guide this transition. C1 [Coury, Daniel L.] Nationwide Childrens Hosp, Dept Pediat, Columbus, OH 43205 USA. [Coury, Daniel L.] Ohio State Univ, Columbus, OH 43210 USA. [Swedo, Susan E.; Thurm, Audrey E.] NIMH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA. [Miller, David T.] Boston Childrens Hosp, Div Genet, Boston, MA USA. [Veenstra-VanderWeele, Jeremy M.] Vanderbilt Kennedy Ctr Res Human Dev, Treatment & Res Inst Autism Spectrum Disorder, Nashville, TN USA. [Carbone, Paul S.] Univ Utah, Dept Pediat, Salt Lake City, UT USA. [Taylor, Julie Lounds] Vanderbilt Univ, Dept Pediat, Nashville, TN USA. [Taylor, Julie Lounds] Vanderbilt Univ, Dept Special Educ, Nashville, TN 37235 USA. RP Coury, DL (reprint author), Nationwide Childrens Hosp, Dept Pediat, Columbus, OH 43205 USA. RI Coury, Daniel/E-2925-2011 FU Autism Speaks; SynapDx; Novartis; Roche Pharmaceuticals; Seaside Therapeutics; Forest; Sunovion; U.S. Department of Health and Human Services [UA3 MC 11054]; Health Resources and Services Administration; Maternal and Child Health Research Program FX Dr. Coury has received research funding from Autism Speaks and SynapDx. Dr. Miller has served on the Scientific Advisory Board, Integragen, Inc., as a Consultant to SynapDx, Inc., Roche NimbleGen, Inc., and Correlagen Diagnostics, Inc.; and as a Consultant and Medical Director to Claritas Genomics, Inc. Dr. Veenstra-Vander Weele has received research funding from Novartis, Roche Pharmaceuticals, Seaside Therapeutics, Forest, Sunovion, and SynapDx, and has served on advisory boards for Novartis and Roche Pharmaceuticals. Dr. Carbone has received grant funding from Autism Speaks. Drs. Swedo, Thurm, and Taylor have no financial relationships to disclose with respect to this article.Received funding from Autism Speaks and from cooperative agreement UA3 MC 11054 from the U.S. Department of Health and Human Services, Health Resources and Services Administration, and Maternal and Child Health Research Program. 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Child Adolesc. Psych. PD FEB PY 2014 VL 23 IS 2 BP 59 EP 60 DI 10.1007/s00787-013-0516-5 PG 2 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA AA5AO UT WOS:000331108100001 PM 24446027 ER PT J AU Adamo, N Huo, L Adelsberg, S Petkova, E Castellanos, FX Di Martino, A AF Adamo, Nicoletta Huo, Lan Adelsberg, Samantha Petkova, Eva Castellanos, F. Xavier Di Martino, Adriana TI Response time intra-subject variability: commonalities between children with autism spectrum disorders and children with ADHD SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE Autism; ADHD; Reaction-time intra-subject variability; Functional data analysis; Endophenotype ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT-HYPERACTIVITY-DISORDER; HIGH-FUNCTIONING AUTISM; SUSTAINED ATTENTION; INTRAINDIVIDUAL VARIABILITY; PSYCHIATRIC-DISORDERS; GENETIC INFLUENCES; PARENT RATINGS; PERFORMANCE; INHIBITION AB Despite the common co-occurrence of symptoms of attention deficit hyperactivity disorder (ADHD) in individuals with autism spectrum disorders (ASD), the underlying mechanisms are under-explored. A potential candidate for investigation is response time intra-subject variability (RT-ISV), a hypothesized marker of attentional lapses. Direct comparisons of RT-ISV in ASD versus ADHD are limited and contradictory. We aimed to examine whether distinct fluctuations in RT-ISV characterize children with ASD and with ADHD relative to typically developing children (TDC). We applied both a priori-based and data-driven strategies to RT performance of 46 children with ASD, 46 with ADHD, and 36 TDC (aged 7-11.9 years). Specifically, we contrasted groups relative to the amplitude of four preselected frequency bands as well as to 400 frequency bins from 0.006 to 0.345 Hz. In secondary analyses, we divided the ASD group into children with and without substantial ADHD symptoms (ASD(+) and ASD(-), respectively). Regardless of the strategy employed, RT-ISV fluctuations at frequencies between 0.20 and 0.345 Hz distinguished children with ADHD, but not children with ASD, from TDC. Children with ASD(+) and those with ADHD shared elevated amplitudes of RT-ISV fluctuations in frequencies between 0.18 and 0.345 Hz relative to TDC. In contrast, the ASD(-) subgroup did not differ from TDC in RT-ISV frequency fluctuations. RT-ISV fluctuations in frequencies 0.18-0.345 Hz (i.e., periods between 3 and 5 s) are associated with ADHD symptoms regardless of categorical diagnosis and may represent a biomarker. These results suggest that children with ADHD and those with ASD(+) share common underlying pathophysiological mechanisms of RT-ISV. C1 [Adamo, Nicoletta; Adelsberg, Samantha; Castellanos, F. Xavier; Di Martino, Adriana] NYU, Langone Med Ctr, Ctr Child Study, Phyllis Green & Randolph Cowen Inst Pediat Neuros, New York, NY 10016 USA. [Huo, Lan; Petkova, Eva] NYU, Ctr Child Study, Div Biostat, New York, NY 10016 USA. [Petkova, Eva; Castellanos, F. Xavier] Nathan S Kline Inst Psychiat Res, Orangeburg, NY USA. RP Di Martino, A (reprint author), NYU, Langone Med Ctr, Ctr Child Study, Phyllis Green & Randolph Cowen Inst Pediat Neuros, One Pk Ave,8th floor, New York, NY 10016 USA. EM Adriana.Dimartino@nyumc.org RI Di Martino, Adriana/L-2497-2014 FU National Institute of Mental Health from the National Institute of Child Health and Human Development [K23MH087770, R01MH081218, R01HD065282]; Autism Speaks; Stavros Niarchos Foundation; Brain and Behavior Research Foundation; Leon Levy Foundation FX The authors thank all children and parents for their participation to this research, as well as the research staff of the Phyllis Green and Randolph Cowen Institute for Pediatric Neuroscience for help in participant recruitment, assessment, data collection and data entry. The authors also wish to thank Drs. Katherine Johnson for sharing the fixed version of SART, Clare Kelly for help in some aspects of RT data preparation, and Philip Reiss for the development of the Functional Data Analysis applied here and for helpful discussion during manuscript preparation. This work was supported in part by grants from the National Institute of Mental Health (K23MH087770 to A. D. 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Child Adolesc. Psych. PD FEB PY 2014 VL 23 IS 2 BP 69 EP 79 DI 10.1007/s00787-013-0428-4 PG 11 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA AA5AO UT WOS:000331108100003 PM 23716135 ER PT J AU Cholemkery, H Kitzerow, J Rohrmann, S Freitag, CM AF Cholemkery, Hannah Kitzerow, Janina Rohrmann, Sonja Freitag, Christine M. TI Validity of the social responsiveness scale to differentiate between autism spectrum disorders and disruptive behaviour disorders SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE Psychometric assessment; Differential diagnosis; Child psychiatric disorder ID PERVASIVE DEVELOPMENTAL DISORDERS; CROSS-CULTURAL VALIDATION; CHILDREN; TRAITS; TWINS; DIAGNOSIS; SRS AB Autism spectrum disorder (ASD) as well as oppositional defiant (ODD) and conduct disorder (CD) is characterised by difficulties in social interaction with peers. The Social Responsiveness Scale (SRS) measures reciprocal social behaviour in children and adolescents and was originally developed as a quantitative measure of autistic traits. In the present study, we compare parent-rated SRS scores in children with ODD, CD, and ASD and examine the diagnostic validity of the SRS alone and in combination with additional questionnaires to differentiate between groups. We hypothesize that the SRS better differentiates ASD and typically developing controls (TD) than ASD and the disruptive behaviour disorders ODD and CD. The sample consists of three clinical groups: ASD without comorbid intellectual delay (N = 55), ODD/CD (N = 55), and TD (N = 55), between 6 and 18 years. The groups were matched by age, sex, and IQ. SRS scores were compared for the three groups. Sensitivity and specificity of the SRS total and sub-scores were examined by receiver operating characteristics (ROC) analyses. Logistic regression analyses were calculated for estimating the rate of correctly specified individuals. The SRS differentiated excellently between ASD and TD (ROC-AUC = 1.00), but sensitivity and specificity were considerably lower when ASD was compared with ODD/CD (ROC-AUC = 0.82). A combination of three parent-rated questionnaires resulted in an improved validity to differentiate ASD and ODD/CD. For clinical screening purposes in children suspicious of ASD and/or ODD/CD, the SRS should be used in combination with additional disorder-specific questionnaires to improve the rate of correct classification of both disorders. C1 [Cholemkery, Hannah; Kitzerow, Janina; Freitag, Christine M.] JW Goethe Univ Hosp, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany. [Rohrmann, Sonja] Goethe Univ Frankfurt, Dept Psychol, Frankfurt, Germany. RP Cholemkery, H (reprint author), JW Goethe Univ Hosp, Dept Child & Adolescent Psychiat Psychosomat & Ps, Deutschordenstr 50, D-60528 Frankfurt, Germany. EM Hannah.Cholemkery@kgu.de FU Medical Faculty of the JW Goethe University Frankfurt am Main (Heinrich and Fritz Riese foundation) FX The authors gratefully acknowledge all families and their children who took part in this study. The authors also thank Laura Mojica and Eva Westerwald for their support in data collection. 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Julius TI Pharmacological rescue of Ras signaling, GluA1-dependent synaptic plasticity, and learning deficits in a fragile X model SO GENES & DEVELOPMENT LA English DT Article DE autism; AMPA receptor trafficking; Ras-PI3K signaling; mental retardation; cocktail drug treatment ID AMPA-RECEPTOR TRAFFICKING; LONG-TERM POTENTIATION; BETA-GAMMA-SUBUNITS; FMR1 KNOCKOUT MICE; MESSENGER-RNAS; HIPPOCAMPAL-NEURONS; MENTAL-RETARDATION; PREFRONTAL CORTEX; LTP INDUCTION; PROTEIN FMRP AB Fragile X syndrome, caused by the loss of Fmr1 gene function, is the most common form of inherited mental retardation, with no effective treatment. Using a tractable animal model, we investigated mechanisms of action of a few FDA-approved psychoactive drugs that modestly benefit the cognitive performance in fragile X patients. Here we report that compounds activating serotonin (5HT) subtype 2B receptors (5HT(2B)-Rs) or dopamine (DA) subtype 1-like receptors (D-1-Rs) and/or those inhibiting 5HT(2A)-Rs or D-2-Rs moderately enhance Ras-PI3K/PKB signaling input, GluA1-dependent synaptic plasticity, and learning in Fmr1 knockout mice. Unexpectedly, combinations of these 5HT and DA compounds at low doses synergistically stimulate Ras-PI3K/PKB signal transduction and GluA1-dependent synaptic plasticity and remarkably restore normal learning in Fmr1 knockout mice without causing anxiety-related side effects. These findings suggest that properly dosed and combined FDA-approved psychoactive drugs may effectively treat the cognitive impairment associated with fragile X syndrome. C1 [Lim, Chae-Seok; Hoang, Elizabeth T.; Viar, Kenneth E.; Stornetta, Ruth L.; Scott, Michael M.; Zhu, J. Julius] Univ Virginia, Coll Arts & Sci, Sch Med, Dept Pharmacol, Charlottesville, VA 22908 USA. [Hoang, Elizabeth T.] Univ Virginia, Coll Arts & Sci, Sch Med, Dept Psychol, Charlottesville, VA 22908 USA. [Zhu, J. Julius] Univ Virginia, Coll Arts & Sci, Sch Med, Dept Neurosci, Charlottesville, VA 22908 USA. RP Zhu, JJ (reprint author), Univ Virginia, Coll Arts & Sci, Sch Med, Dept Pharmacol, Charlottesville, VA 22908 USA. EM jjzhu@virginia.edu FU National Institutes of Health; FRAXA Research Foundation FX We thank Dr. Mark Bear, Dr. Jay Gibson, Dr. Randy Hagerman, Dr. Bong-Kiun Kaang, Dr. Gary Lynch, Dr. Michael Tranfaglia, and Dr. Brian Wiltgen for technical advice and invaluable discussions, and members of the Zhu laboratory for comments and technical assistance. This study is supported in part by the National Institutes of Health and FRAXA Research Foundation. 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PD FEB 1 PY 2014 VL 28 IS 3 BP 273 EP 289 DI 10.1101/gad.232470.113 PG 17 WC Cell Biology; Developmental Biology; Genetics & Heredity SC Cell Biology; Developmental Biology; Genetics & Heredity GA AA6RF UT WOS:000331224900007 PM 24493647 ER PT J AU Shashi, V McConkie-Rosell, A Rosell, B Schoch, K Vellore, K McDonald, M Jiang, YH Xie, PX Need, A Goldstein, DB AF Shashi, Vandana McConkie-Rosell, Allyn Rosell, Bruce Schoch, Kelly Vellore, Kasturi McDonald, Marie Jiang, Yong-Hui Xie, Pingxing Need, Anna Goldstein, David B. TI The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders SO GENETICS IN MEDICINE LA English DT Article DE genetic diagnosis; genetic testing; medical genetics evaluation; next-generation sequencing; undiagnosed genetic disorder ID AUTISM SPECTRUM DISORDERS; MENTAL-RETARDATION; INTELLECTUAL DISABILITY; CONGENITAL-ANOMALIES; YIELD; INDIVIDUALS; HEALTH; CHILD; ETIOLOGY; PROJECT AB Purpose: The purpose of this study was to assess the diagnostic yield of the traditional, comprehensive clinical evaluation and targeted genetic testing, within a general genetics clinic. These data are critically needed to develop clinically and economically grounded diagnostic algorithms that consider presenting phenotype, traditional genetics testing, and the emerging role of next-generation sequencing (whole-exome/genome sequencing). Methods: We retrospectively analyzed a cohort of 500 unselected consecutive patients who received traditional genetic diagnostic evaluations at a tertiary medical center. We calculated the diagnosis rate, number of visits to diagnosis, genetic tests, and the cost of testing. Results: Thirty-nine patients were determined to not have a genetic disorder; 212 of the remaining 461 (46%) received a genetic diagnosis, and 72% of these were diagnosed on the first visit. The cost per subsequent successful genetic diagnosis was estimated at $ 25,000. Conclusion: Almost half of the patients were diagnosed using the traditional approach, most at the initial visit. For those remaining undiagnosed, next-generation sequencing may be clinically and economically beneficial. Estimating a 50% success rate for next-generation sequencing in undiagnosed genetic disorders, its application after the first clinical visit could result in a higher rate of genetic diagnosis at a considerable cost savings per successful diagnosis. C1 [Shashi, Vandana; McConkie-Rosell, Allyn; Rosell, Bruce; Schoch, Kelly; Vellore, Kasturi; McDonald, Marie; Jiang, Yong-Hui] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA. [Xie, Pingxing; Need, Anna; Goldstein, David B.] Duke Univ, Med Ctr, Ctr Human Genome Variat, Durham, NC 27710 USA. RP Shashi, V (reprint author), Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA. 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Generative models of the diffusion signal, such as multi-fascicle models, overcome this limitation by providing a parametric representation for the signal contribution of each population of water molecules. These models are of great interest in population studies to characterize and compare the brain microstructural properties. Central to population studies is the construction of an atlas and the registration of all subjects to it. However, the appropriate definition of registration and atlasing methods for multi-fascicle models have proven challenging. This paper proposes a mathematical framework to register and analyze multi-fascicle models. Specifically, we define novel operators to achieve interpolation, smoothing and averaging of multifascicle models. We also define a novel similarity metric to spatially align multi-fascicle models. Our framework enables simultaneous comparisons of different microstructural properties that are confounded in conventional DTI. The framework is validated on multi-fascicle models from 24 healthy subjects and 38 patients with tuberous sclerosis complex, 10 of whom have autism. We demonstrate the use of the multi-fascicle models registration and analysis framework in a population study of autism spectrum disorder. C1 [Taquet, Maxime; Scherrer, Benoit; Peters, Jurriaan M.; Warfield, Simon K.] Harvard Univ, Sch Med, Boston Childrens Hosp, Computat Radiol Lab, Boston, MA 02115 USA. [Taquet, Maxime; Macq, Benoit] Catholic Univ Louvain, ICTEAM Inst, B-1348 Louvain, Belgium. [Commowick, Olivier] INRIA, INSERM, VisAGeS Unit Project U746, F-35042 Rennes, France. [Sahin, Mustafa] Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA. RP Taquet, M (reprint author), Harvard Univ, Sch Med, Boston Childrens Hosp, Computat Radiol Lab, Boston, MA 02115 USA. FU National Institutes of Health (NIH) [R01 NS079788, R01 EB008015, R03 EB008680, R01 LM010033, R01 EB013248, 1U01NS082320-01]; Boston Children's Hospital; ImagX Walloon Region Project; Fonds de la Recherche Scientifique-FNRS (FRS-FNRS); Belgian American Educational Foundation (BAEF); WBI.WORLD FX This work was supported in part by the National Institutes of Health (NIH) under Grant R01 NS079788, Grant R01 EB008015, Grant R03 EB008680, Grant R01 LM010033, Grant R01 EB013248, and Grant 1U01NS082320-01, in part by a research grant from the Boston Children's Hospital Translational Research Program, and in part by the ImagX Walloon Region Project. The work of M. Taquet was supported in part by Fonds de la Recherche Scientifique-FNRS (FRS-FNRS), in part by the Belgian American Educational Foundation (BAEF), and in part by WBI.WORLD. 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[Sibai, Baha M.] Univ Texas Hlth Sci Houston, Dept Obstet & Gynecol, Houston, TX USA. [Silver, Robert] Univ Utah, Sch Med, Dept Obstet & Gynecol, Salt Lake City, UT 84132 USA. RP Saade, GR (reprint author), Univ Texas Med Branch, Dept Obstet & Gynecol, 301 Univ Blvd, Galveston, TX 77555 USA. EM gsaade@utmb.edu CR Bailit JL, 2010, AM J OBSTET GYNECOL, V203, DOI 10.1016/j.ajog.2010.07.004 Gregory SG, 2013, JAMA PEDIATR, V167, P959, DOI 10.1001/jamapediatrics.2013.2904 Lydon-Rochelle MT, 2005, PAEDIATR PERINAT EP, V19, P460, DOI 10.1111/j.1365-3016.2005.00682.x Patient C, 1999, BRIT J OBSTET GYNAEC, V106, P1311, DOI 10.1111/j.1471-0528.1999.tb08188.x Vinikoor LC, 2010, PAEDIATR PERINAT EP, V24, P102, DOI 10.1111/j.1365-3016.2009.01087.x NR 5 TC 0 Z9 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6203 EI 2168-6211 J9 JAMA PEDIATR JI JAMA Pediatr. PD FEB PY 2014 VL 168 IS 2 BP 190 EP 191 PG 2 WC Pediatrics SC Pediatrics GA AA8TD UT WOS:000331366900023 PM 24492874 ER PT J AU Vintzileos, A Ananth, CV AF Vintzileos, AnthonyM. Ananth, Cande V. TI Induction or Augmentation of Labor and Autism SO JAMA PEDIATRICS LA English DT Letter ID RISK C1 [Vintzileos, AnthonyM.] Winthrop Univ Hosp, Dept Obstet & Gynecol, Mineola, NY 11501 USA. [Ananth, Cande V.] Columbia Univ, Coll Phys & Surg, Dept Obstet & Gynecol, New York, NY USA. [Ananth, Cande V.] Columbia Univ, Joseph L Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA. RP Vintzileos, A (reprint author), Winthrop Univ Hosp, Dept Obstet & Gynecol, 259 First St, Mineola, NY 11501 USA. EM avintzileos@winthrop.org CR Evans S., TRENDS CESAREAN DELI Gregory SG, 2013, JAMA PEDIATR, V167, P959, DOI 10.1001/jamapediatrics.2013.2904 Ozonoff S, 2011, PEDIATRICS, V128, pE488, DOI 10.1542/peds.2010-2825 Rothman KJ, MODERN EPIDEMIOLOGY, P79 Vintzileos AM, 2013, AM J OBSTET GYNECOL, V209, P502, DOI 10.1016/j.ajog.2013.09.003 NR 5 TC 2 Z9 2 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6203 EI 2168-6211 J9 JAMA PEDIATR JI JAMA Pediatr. PD FEB PY 2014 VL 168 IS 2 BP 190 EP 190 PG 1 WC Pediatrics SC Pediatrics GA AA8TD UT WOS:000331366900022 PM 24492873 ER PT J AU Miranda, ML Anthopolos, R Gregory, SG AF Miranda, Marie Lynn Anthopolos, Rebecca Gregory, Simon G. TI Induction or Augmentation of Labor and Autism Reply SO JAMA PEDIATRICS LA English DT Letter ID BIRTH CERTIFICATES; WASHINGTON-STATE; RECORDS; DIAGNOSES; ACCURACY C1 [Miranda, Marie Lynn] Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA. [Miranda, Marie Lynn; Anthopolos, Rebecca] Univ Michigan, Sch Nat Resources & Environm, Childrens Environm Hlth Initiat, Ann Arbor, MI 48109 USA. [Gregory, Simon G.] Duke Univ, Med Ctr, Dept Med, Ctr Human Genet, Durham, NC 27710 USA. [Gregory, Simon G.] Duke Univ, Med Ctr, Duke Inst Mol Physiol, Durham, NC USA. RP Miranda, ML (reprint author), Univ Michigan, Sch Nat Resources & Environm, 440 Church St,2046 Dana Bldg, Ann Arbor, MI 48109 USA. EM mlmirand@umich.edu CR Bailit JL, 2010, AM J OBSTET GYNECOL, V203, DOI 10.1016/j.ajog.2010.07.004 Gregory SG, 2013, JAMA PEDIATR, V167, P959, DOI 10.1001/jamapediatrics.2013.2904 Kahn EB, 2009, OBSTET GYNECOL, V113, P33, DOI 10.1097/AOG.0b013e318190bb33 Lydon-Rochelle MT, 2005, PAEDIATR PERINAT EP, V19, P460, DOI 10.1111/j.1365-3016.2005.00682.x Malek A, 1996, J Matern Fetal Med, V5, P245, DOI 10.3109/14767059609025430 PARRISH KM, 1993, AM J EPIDEMIOL, V138, P119 PIPER JM, 1993, AM J EPIDEMIOL, V137, P758 NR 7 TC 0 Z9 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6203 EI 2168-6211 J9 JAMA PEDIATR JI JAMA Pediatr. PD FEB PY 2014 VL 168 IS 2 BP 191 EP 192 PG 2 WC Pediatrics SC Pediatrics GA AA8TD UT WOS:000331366900024 PM 24492875 ER PT J AU Watanabe, T Abe, O Kuwabara, H Yahata, N Takano, Y Iwashiro, N Natsubori, T Aoki, Y Takao, H Kawakubo, Y Kamio, Y Kato, N Miyashita, Y Kasai, K Yamasue, H AF Watanabe, Takamitsu Abe, Osamu Kuwabara, Hitoshi Yahata, Noriaki Takano, Yosuke Iwashiro, Norichika Natsubori, Tatsunobu Aoki, Yuta Takao, Hidemasa Kawakubo, Yuki Kamio, Yoko Kato, Nobumasa Miyashita, Yasushi Kasai, Kiyoto Yamasue, Hidenori TI Mitigation of Sociocommunicational Deficits of Autism Through Oxytocin-Induced Recovery of Medial Prefrontal Activity A Randomized Trial SO JAMA PSYCHIATRY LA English DT Article ID SPECTRUM DISORDERS; INTRANASAL OXYTOCIN; SOCIAL COGNITION; PROSOCIAL BEHAVIOR; NEURAL CIRCUITRY; CENTRAL AMYGDALA; RECEPTOR GENE; HUMAN BRAIN; HUMANS; VASOPRESSIN AB IMPORTANCE Sociocommunicational deficits make it difficult for individuals with autism spectrum disorders (ASD) to understand communication content with conflicting verbal and nonverbal information. Despite growing prospects for oxytocin as a therapeutic agent for ASD, no direct neurobiological evidence exists for oxytocin's beneficial effects on this core symptom of ASD. This is slowing clinical application of the neuropeptide. OBJECTIVE To directly examine whether oxytocin has beneficial effects on the sociocommunicational deficits of ASD using both behavioral and neural measures. DESIGN, SETTING, AND PARTICIPANTS At the University of Tokyo Hospital, we conducted a randomized, double-blind, placebo-controlled, within-subject-crossover, single-site experimental trial in which intranasal oxytocin and placebo were administered. A total of 40 highly functioning men with ASD participated and were randomized in the trial. INTERVENTIONS Single-dose intranasal administration of oxytocin (24 IU) and placebo. MAIN OUTCOMES AND MEASURES Using functional magnetic resonance imaging, we examined effects of oxytocin on behavioral neural responses of the participants to a social psychological task. In our previous case-control study using the same psychological task, when making decisions about social information with conflicting verbal and nonverbal contents, participants with ASD made judgments based on nonverbal contents less frequently with longer time and could not induce enough activation in the medial prefrontal cortex. Therefore, our main outcomes and measures were the frequency of the nonverbal information-based judgments (NVJs), the response time for NVJs, and brain activity of the medial prefrontal cortex during NVJs. RESULTS Intranasal oxytocin enabled the participants to make NVJs more frequently (P = .03) with shorter response time (P = .02). During the mitigated behavior, oxytocin increased the originally diminished brain activity in the medial prefrontal cortex (P < .001). Moreover, oxytocin enhanced functional coordination in the area (P < .001), and the magnitude of these neural effects was predictive of the behavioral effects (P <= .01). CONCLUSIONS AND RELEVANCE These findings provide the first neurobiological evidence for oxytocin's beneficial effects on sociocommunicational deficits of ASD and give us the initial account for neurobiological mechanisms underlying any beneficial effects of the neuropeptide. C1 [Watanabe, Takamitsu; Yahata, Noriaki; Takano, Yosuke; Iwashiro, Norichika; Natsubori, Tatsunobu; Aoki, Yuta; Kasai, Kiyoto; Yamasue, Hidenori] Univ Tokyo, Sch Med, Dept Neuropsychiat, Tokyo 1138655, Japan. [Watanabe, Takamitsu; Miyashita, Yasushi] Univ Tokyo, Sch Med, Dept Physiol, Tokyo 1138655, Japan. [Abe, Osamu] Nihon Univ, Sch Med, Dept Radiol, Tokyo, Japan. [Abe, Osamu; Takao, Hidemasa] Univ Tokyo, Sch Med, Dept Radiol, Tokyo 1138655, Japan. [Kuwabara, Hitoshi; Kawakubo, Yuki] Univ Tokyo, Sch Med, Dept Child Neuropsychiat, Tokyo 1138655, Japan. [Yahata, Noriaki] Univ Tokyo, Global Ctr Excellence Program, Tokyo 1138655, Japan. [Kamio, Yoko] Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, Tokyo, Japan. [Kato, Nobumasa; Yamasue, Hidenori] Showa Univ, Sch Med, Dept Neuropsychiat, Tokyo 142, Japan. [Yamasue, Hidenori] Japan Sci & Technol Agcy, Tokyo, Japan. RP Yamasue, H (reprint author), Univ Tokyo, Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan. EM yamasue-tky@umin.ac.jp FU Japan Society for the Promotion of Science [22689034, 20591378]; Global Center of Excellence Program; Japan Society for the Promotion of Science Research Foundation for Young Scientists [222882] FX This work was supported by Grants-in-Aid for Scientific Research (KAKENHI) 22689034 (Dr Yamasue) and 20591378 (Dr Yahata) from the Japan Society for the Promotion of Science, by the Global Center of Excellence Program (Dr Yahata), and by grant 222882 from the Japan Society for the Promotion of Science Research Foundation for Young Scientists (Dr Watanabe). 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The PSD is a thickness, detectable at electronic microscopy, localized at the postsynaptic membrane of glutamatergic synapses, and made by scaffolding proteins, receptors, and effector proteins; it is considered a structural and functional crossroad where multiple neurotransmitter systems converge, including the dopaminergic, serotonergic, and glutamatergic ones, which are all implicated in the pathophysiology of psychosis. Decreased PSD-95 protein levels have been reported in postmortem brains of schizophrenia patients. Variants of Homer1, a key PSD protein for glutamate signaling, have been associated with schizophrenia symptoms severity and therapeutic response. Mutations in Shank gene have been recognized in autism spectrum disorder patients, as well as reported to be associated to behaviors reminiscent of schizophrenia symptoms when expressed in genetically engineered mice. Here, we provide a critical appraisal of PSD proteins role in the pathophysiology of schizophrenia and autism spectrum disorders. Then, we discuss how antipsychotics may affect PSD proteins in brain regions relevant to psychosis pathophysiology, possibly by controlling synaptic plasticity and dendritic spine rearrangements through the modulation of glutamate-related targets. We finally provide a framework that may explain how PSD proteins might be useful candidates to develop new therapeutic approaches for schizophrenia and related disorders in which there is a need for new biological treatments, especially against some symptom domains, such as negative symptoms, that are poorly affected by current antipsychotics. C1 [de Bartolomeis, Andrea; Latte, Gianmarco; Tomasetti, Carmine; Iasevoli, Felice] Univ Naples Federico II, Sch Med, Dept Neurosci Reprod & Odontostomatol Sci,Sect Ps, Lab Mol & Translat Psychiat,Unit Treatment Resist, I-80131 Naples, Italy. RP de Bartolomeis, A (reprint author), Univ Naples Federico II, Sch Med, Dept Neurosci Reprod & Odontostomatol Sci,Sect Ps, Lab Mol & Translat Psychiat,Unit Treatment Resist, Via Pansini 5, I-80131 Naples, Italy. EM adebarto@unina.it FU Astra Zeneca; Janssen-Cilag; Lundbeck; Astra-Zeneca Italia; Janssen-Cilag Italy; Eli Lilly; Bristol-Myers Squibb FX Andrea de Bartolomeis has received unrestricted research funding from Astra Zeneca, Janssen-Cilag, and Lundbeck. The funding was made available to the Department of Neuroscience, University of Naples Federico II. He has received honoraria as speaker at educational activity sponsored by Astra-Zeneca Italia, Janssen-Cilag Italy, Eli Lilly, and Bristol-Myers Squibb. 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Neurobiol. PD FEB PY 2014 VL 49 IS 1 BP 484 EP 511 DI 10.1007/s12035-013-8534-3 PG 28 WC Neurosciences SC Neurosciences & Neurology GA AA4EC UT WOS:000331046800038 PM 23999870 ER PT J AU Kim, KC Lee, DK Go, HS Kim, P Choi, CS Kim, JW Jeon, SJ Song, MR Shin, CY AF Kim, Ki Chan Lee, Dong-Keun Go, Hyo Sang Kim, Pitna Choi, Chang Soon Kim, Ji-Woon Jeon, Se Jin Song, Mi-Ryoung Shin, Chan Young TI Pax6-Dependent Cortical Glutamatergic Neuronal Differentiation Regulates Autism-Like Behavior in Prenatally Valproic Acid-Exposed Rat Offspring SO MOLECULAR NEUROBIOLOGY LA English DT Article DE Autism spectrum disorders; Glutamatergic neuronal differentiation; Glutamate receptor antagonist; Pax6; Valproic acid ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS; NMDA RECEPTOR HYPOFUNCTION; MOUSE MODEL; PREPULSE INHIBITION; SPECTRUM DISORDERS; PROGENITOR CELLS; PAX6 CONTROLS; ANIMAL-MODEL; STEM-CELL AB Imbalance in excitatory/inhibitory signal in the brain has been proposed as one of the main pathological features in autism spectrum disorders, although the underlying cellular and molecular mechanism is unclear yet. Because excitatory/inhibitory imbalance can be induced by aberration in glutamatergic/GABAergic neuronal differentiation, we investigated the mechanism of dysregulated neuronal differentiation between excitatory and inhibitory neurons in the embryonic and postnatal brain of prenatally valproic acid-exposed rat offspring, which is often used as an animal model of autism spectrum disorders. Transcription factor Pax6, implicated in glutamatergic neuronal differentiation, was transiently increased in embryonic cortex by valproate exposure, which resulted in the increased expression of glutamatergic proteins in postnatal brain of offspring. Chromatin immunoprecipitation showed increased acetylated histone binding on Pax6 promoter region, which may underlie the transcriptional up-regulation of Pax6. Other histone deacetylase (HDAC) inhibitors including TSA and SB but not valpromide, which is devoid of HDAC inhibitor activity, induced Pax6 up-regulation. Silencing Pax6 expression in cultured rat primary neural progenitor cells demonstrated that up-regulation of Pax6 plays an essential role in valproate-induced glutamatergic differentiation. Blocking glutamatergic transmission with MK-801 or memantine treatment, and to a lesser extent with MPEP treatment, reversed the impaired social behaviors and seizure susceptibility of prenatally valproate-exposed offspring. Together, environmental factors may contribute to the imbalance in excitatory/inhibitory neuronal activity in autistic brain by altering expression of transcription factors governing glutamatergic/GABAergic differentiation during fetal neural development, in conjunction with the genetic preload. C1 [Kim, Ki Chan; Go, Hyo Sang] Seoul Natl Univ, Dept Pharmacol, Coll Pharm, Seoul, South Korea. [Kim, Ki Chan; Go, Hyo Sang; Kim, Pitna; Choi, Chang Soon; Kim, Ji-Woon; Shin, Chan Young] Konkuk Univ, SMART Inst Adv Biomed Sci, Ctr Res Neurosci, Seoul, South Korea. [Lee, Dong-Keun; Song, Mi-Ryoung] Gwangju Inst Sci & Technol, Sch Life Sci, Bioimaging Res Ctr, Kwangju 500712, South Korea. [Lee, Dong-Keun; Song, Mi-Ryoung] Gwangju Inst Sci & Technol, Sch Life Sci, Cell Dynam Res Ctr, Kwangju 500712, South Korea. [Kim, Pitna; Choi, Chang Soon; Kim, Ji-Woon; Shin, Chan Young] Konkuk Univ, Sch Med, Dept Pharmacol, Seoul 143701, South Korea. [Jeon, Se Jin] Univ Calif Los Angeles, Dept Psychiat, Sch Med, Los Angeles, CA 90095 USA. RP Song, MR (reprint author), Gwangju Inst Sci & Technol, Sch Life Sci, Bioimaging Res Ctr, Kwangju 500712, South Korea. EM msong@gist.ac.kr; chanyshin@kku.ac.kr FU National Research Foundation of Korea (NRF) [2011-0014258, 2012K2A1A2032549]; Korea government (MEST) FX This work was supported by Mid-career Researcher Program (2011-0014258) and the framework of international cooperation program (2012K2A1A2032549) through the National Research Foundation of Korea (NRF) grant funded by the Korea government (MEST). 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Neurobiol. PD FEB PY 2014 VL 49 IS 1 BP 512 EP 528 DI 10.1007/s12035-013-8535-2 PG 17 WC Neurosciences SC Neurosciences & Neurology GA AA4EC UT WOS:000331046800039 PM 24030726 ER PT J AU Turygin, N Matson, JL Williams, LW Belva, BC AF Turygin, Nicole Matson, Johnny L. Williams, Lindsey W. Belva, Brian C. TI The relationship of parental first concerns and autism spectrum disorder in an early intervention sample SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Toddlers Early intervention; Child development; Battelle Developmental Inventory; Parental concern ID CHALLENGING BEHAVIORS; DEVELOPMENTAL DELAY; EARLY SYMPTOMS; INFANT SCREEN; PDD-NOS; CHILDREN; TODDLERS; DIAGNOSIS; PSYCHOPATHOLOGY; COMMUNICATION AB Experts in the treatment of children with developmental disabilities emphasize the need to identify at-risk children at an early age. The ability to distinguish children at risk for particular developmental disabilities, such as autism (ASD), can help to target treatment to mitigate core symptoms and the deleterious effects of early delay on developmental trajectory. The present study investigates the relationship between parental first concerns (FC) (communication, social/emotional, cognitive/adaptive/global, behavior problems, motor, hyperactivity, and medical/other concerns) on ASD diagnosis in a sample of 2905 toddlers who presented for early intervention assessment in the state of Louisiana. We also examine whether developmental quotient (DQ) contributes to a diagnosis of ASD. Individuals deemed at-risk for a developmental disability represent a heterogeneous population, and this investigation aims to provide direction for identifying children likely to be diagnosed with an ASD according to parental perceptions of disability. Findings illustrating the differences in ASD diagnosis within each FC category are discussed. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Turygin, Nicole; Matson, Johnny L.; Williams, Lindsey W.; Belva, Brian C.] Louisiana State Univ, Baton Rouge, LA 70803 USA. RP Turygin, N (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. 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Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 53 EP 60 DI 10.1016/j.rasd.2013.10.008 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600001 ER PT J AU Lorah, ER Gilroy, SP Hineline, PN AF Lorah, Elizabeth R. Gilroy, Shawn P. Hineline, Philip N. TI Acquisition of peer manding and listener responding in young children with autism SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Mand; Listener responding; Picture communication; Peer manding; Autism ID COMMUNICATION AB Individuals diagnosed with an autism spectrum disorder demonstrate impairments in communication and social interaction. The importance of acquiring those skills, especially as young children, has been well established in the literature. Peer-mediated interventions have recently received much attention; however, its use is contingent upon access to typically developing peers, which is not always the case in all educational settings. Thus, it is often necessary for specific instruction to occur for matched peers when conducting instruction for peer-mediated communication. However, strategies for teaching these skills have not adequately addressed the role of the listener, especially that of a matched peer, within the instructional setting. Listener responding is a required component for teaching this type of behavior, for without it these emerging skills may not produce reinforcement. Once taught, the communicative skills will require reinforcement from peer-listeners if those skills are to be maintained beyond the instructional setting. 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TI Final DSM-5 under-identifies mild Autism Spectrum Disorder: Agreement between the DSM-5, CARS, CASD, and clinical diagnoses SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE DSM-5; Checklist for Autism Spectrum Disorder; Childhood Autism Rating Scale ID IV ASPERGERS-DISORDER; RATING-SCALE CARS; CHILDHOOD AUTISM; YOUNG-CHILDREN; BEHAVIOR CHECKLIST; CRITERIA; SYMPTOMS; SPECIFICITY; SENSITIVITY; TODDLERS AB Agreement between the final DSM-5 ASD criteria, Childhood Autism Rating Scale (CARS), and Checklist for Autism Spectrum Disorder (CASD) was assessed in 143 children with ASD and other disorders (e.g., ADHD, intellectual disability, and oppositional defiant disorder). Diagnostic agreement between the CARS and CASD was high (94%), but their agreement with the DSM-5 was lower (84% and 88%). Agreement between the DSM-5 and both the CARS and CASD increased to 94% and diagnostic accuracy increased from 92% to 96% when one less DSM-5 social communication and interaction symptom was required for a diagnosis. Children with ASD not meeting DSM-5 criteria most often did not have criterion A2 (deficits in nonverbal social communication). Total scores on the DSM-5, CASD, and CARS were far higher for children with mild ASD (formerly PDDNOS) than no ASD, indicating that these children are clearly on the autism spectrum and are quite different from children with other disorders. However, only one child with mild ASD was identified by the DSM-5. This study and 11 others show that the DSM-5 under-identifies children with ASD, particularly children at the mild end of the spectrum. This can be rectified by requiring one less social communication and interaction symptom for a diagnosis. (C) 2013 Elsevier Ltd. All rights reserved. C1 Penn State Coll Med, Dept Psychiat, Hershey, PA USA. 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Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 68 EP 73 DI 10.1016/j.rasd.2013.11.002 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600003 ER PT J AU Beighley, JS Matson, JL Rieske, RD Konst, MJ Tureck, K AF Beighley, Jennifer S. Matson, Johnny L. Rieske, Robert D. Konst, Matthew J. Tureck, Kimberly TI Differences in communication skills in toddlers diagnosed with Autism Spectrum Disorder according to the DSM-IV-TR and the DSM-5 SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE ASD; DSM-5; Communication; Toddlers ID INTENSIVE BEHAVIORAL INTERVENTIONS; SOCIAL-SKILLS; YOUNG-CHILDREN; INFANT SCREEN; PDD-NOS; CRITERIA; ADULTS; RELIABILITY; PRESCHOOL; EPILEPSY AB The DSM-5 changes related to Autism Spectrum Disorder (ASD) are controversial, and much research is needed to determine possible implications of the diagnostic changes on early diagnosis and treatment for those with symptoms of the disorder. In the present study, the area of communication was examined, specifically related to the effect the DSM-5 changes have on scores of Expressive and Receptive communication in a sample of 3138 at-risk toddlers using the Battelle Developmental Inventory, Second Edition. Significant differences were not found in overall communication or Expressive Communication between toddlers who longer meet ASD criteria (n = 354) and those who continue to meet the new criteria (n = 486); a difference of only small effect size was found in Receptive communication. The toddlers who no longer met the new criteria represented a population of toddlers who were significantly more impaired than atypically developing peers who did not meet ASD criteria under either version of the DSM (n = 2298), with moderate effect sizes found in receptive, expressive, and overall communication. Importantly, results of the current study demonstrate that toddlers who no longer meet criteria do not differ from toddlers who continue to meet ASD criteria in their Expressive Communication, a common area of first concern noted by parents, and an area that is focused on during early intervention. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Beighley, Jennifer S.; Matson, Johnny L.; Rieske, Robert D.; Konst, Matthew J.; Tureck, Kimberly] Louisiana State Univ, Baton Rouge, LA 70803 USA. RP Beighley, JS (reprint author), Louisiana State Univ, Dept Psychol, 236 Audubon Hall, Baton Rouge, LA 70803 USA. 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Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 74 EP 81 DI 10.1016/j.rasd.2013.10.014 PG 8 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600004 ER PT J AU Lidstone, J Uljarevic, M Sullivan, J Rodgers, J McConachie, H Freeston, M Le Couteur, A Prior, M Leekam, S AF Lidstone, Jane Uljarevic, Mirko Sullivan, Jillian Rodgers, Jacqui McConachie, Helen Freeston, Mark Le Couteur, Ann Prior, Margot Leekam, Susan TI Relations among restricted and repetitive behaviors, anxiety and sensory features in children with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Arousal; Repetitive behaviors; Anxiety; Sensory features; Insistence on sameness; Autism spectrum disorders ID DIAGNOSTIC INTERVIEW; OVER-RESPONSIVITY; YOUNG-CHILDREN; INTERESTS; QUESTIONNAIRE; ADOLESCENTS; MODULATION; SYMPTOMS; SAMPLE; MODEL AB The purpose of this study was to explore how atypical reactions to sensory stimuli contribute to the relation between restricted and repetitive behaviors and anxiety in children with autism spectrum disorders (ASD). In Study I, factor analysis of restricted and repetitive behaviors was carried out using the Repetitive Behavior Questionnaire-2 (RBQ-2), completed by 120 parents of 2- to 17-year-olds with ASD. Two subtypes resulted: repetitive sensory and motor behaviors, and insistence on sameness, accounting for 40% of the variance. This two-factor solution was retained even when the sensory items of the RBQ-2 were removed. In Study 2, 49 of the same parents also completed the Spence Anxiety Scales and the Sensory Profile. The insistence on sameness factor was significantly associated with anxiety while the repetitive motor behaviors factor was not. The relation between anxiety and insistence on sameness was mediated by sensory avoiding and to a lesser extent by sensory sensitivity. Implications for arousal explanations of ASD and for clinical practice are discussed. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Lidstone, Jane; Uljarevic, Mirko; Leekam, Susan] Cardiff Univ, Sch Psychol, Wales Autism Res Ctr, Cardiff CF10 3AT, S Glam, Wales. [Sullivan, Jillian] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 1TN, England. [Rodgers, Jacqui; Freeston, Mark] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [McConachie, Helen; Le Couteur, Ann] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [Prior, Margot] Univ Melbourne, Melbourne Sch Psychol Sci, Melbourne, Vic 3010, Australia. RP Uljarevic, M (reprint author), Cardiff Univ, Sch Psychol, Wales Autism Res Ctr, Pk Pl, Cardiff CF10 3AT, S Glam, Wales. 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Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 82 EP 92 DI 10.1016/j.rasd.2013.10.001 PG 11 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600005 ER PT J AU Matson, JL Goldin, RL Matson, ML AF Matson, Johnny L. Goldin, Rachel L. Matson, Michael L. TI Who and how are children selected for early autism intervention SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Early intensive behavior interventions; Autism; Selection methods; Diagnosis; Methodology ID INTENSIVE BEHAVIORAL TREATMENT; PERVASIVE DEVELOPMENTAL DISORDER; SPECTRUM DISORDERS; YOUNG-CHILDREN; PREVALENCE; DISABILITY; TODDLERS; PRESCHOOLERS; RELIABILITY; PREDICTORS AB Early Intensive Behavioral Interventions (EIBI) has become a well recognized treatment for autism spectrum disorders (ASD). Nonetheless, many questions remain about how to best administer these interventions and tailor treatments to given children. For researchers to make the best decisions regarding treatment, client populations must be precisely defined and described. Thus, the correct methods for client selection need to be described and used. The purpose of this paper is to take stock of methods of client selection for EIBI research. This paper reviews 34 studies which focus on this treatment model. Methods and procedures used in these studies are discussed. At present, they fall short of optimal standards. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Matson, Johnny L.; Goldin, Rachel L.] Louisiana State Univ, Baton Rouge, LA 70803 USA. [Matson, Michael L.] Disabil Consultants LLC, Res Ctr, Southaven, MS USA. RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. 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Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 93 EP 98 DI 10.1015/j.rasd.2013.10.013 PG 6 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600006 ER PT J AU Foody, C James, JE Leader, G AF Foody, Ciara James, Jack E. Leader, Geraldine TI Parenting stress, salivary biomarkers, and ambulatory blood pressure in mothers of children with Autism Spectrum Disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Parenting; Stress; Cortisol; Ambulatory blood pressure; Alpha-amylase ID BRITISH HYPERTENSION SOCIETY; DEVELOPMENTAL-DISABILITIES; BEHAVIOR-PROBLEMS; ALPHA-AMYLASE; INSTRUMENT; CORTISOL; HYPOCORTISOLISM; PREVALENCE; CAREGIVERS; SUPPORT AB Parenting a child with an Autism Spectrum Disorder (ASD) is often associated with high levels of stress. This in turn can undermine the success of early intervention, and lead to poorer health outcomes for parents. The present study investigated the effects of parenting a child with an ASD on self-reported parenting stress, salivary biomarkers, and 24-h ambulatory blood pressure. Seventy-four mothers of 2-14 year olds with an ASD diagnosis completed a questionnaire booklet, which contained measures of parenting stress, and parent and child characteristics. Mothers wore an ambulatory blood pressure monitor, which collected systolic and diastolic blood pressure and heart rate over a 24-h period. Saliva samples were collected for the purpose of measuring cortisol and alpha-amylase levels. High levels of parenting stress and anxiety, and moderately high levels of depression were reported. Mothers were found to have low cortisol levels, suggesting dysregulation of the HPA-axis and cortisol profile. Hierarchical multiple regression analyses revealed that quantity of unmet service needs, sleep problems, socialisation deficits, adaptive behaviour, and the coping strategies of self-blame and behavioural disengagement predicted maternal outcomes. Findings are discussed in relation to their implications for supporting parents of children with ASD. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Foody, Ciara; James, Jack E.; Leader, Geraldine] Natl Univ Ireland, Sch Psychol, Galway, Ireland. [James, Jack E.] Reykjavik Univ, Dept Psychol, Reykjavik, Iceland. RP Foody, C (reprint author), Natl Univ Ireland, Sch Psychol, Galway, Ireland. EM c.foody1@nuigalway.ie; jack@ru.is; geraldine.leader@nuigalway.ie CR Abidin R. 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PD FEB PY 2014 VL 8 IS 2 BP 99 EP 110 DI 10.1016/j.rasd.2013.10.015 PG 12 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600007 ER PT J AU Petrina, N Carter, M Stephenson, J AF Petrina, Neysa Carter, Mark Stephenson, Jennifer TI The nature of friendship in children with autism spectrum disorders: A systematic review SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Review DE Friendship; Relationship; Peer relationship; Autism spectrum disorders; Children; Adolescents ID HIGH-FUNCTIONING CHILDREN; ASPERGER-SYNDROME; DEVELOPMENTAL-DISABILITIES; SOCIAL RELATIONSHIPS; ADOLESCENT BOYS; SCHOOL; LONELINESS; MIND; INDIVIDUALS; PATTERNS AB This paper provides a systematic review of 24 studies that addressed the characteristics of friendship in school-age children with a diagnosis of autism spectrum disorder (ASD). 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PD FEB PY 2014 VL 8 IS 2 BP 111 EP 126 DI 10.1016/j.rasd.2013.10.016 PG 16 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600008 ER PT J AU van Steensel, FJA Dirksen, CD Bogels, SM AF van Steensel, F. J. A. Dirksen, C. D. Bogels, S. M. TI Cost-effectiveness of cognitive-behavioral therapy versus treatment as usual for anxiety disorders in children with autism spectrum disorder SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Anxiety; COT; TAU; Cost-effectiveness ID CONTROLLED-TRIAL; INTERVIEW; SYMPTOMS; EUROQOL; YOUTH; EQ-5D AB The study's aim was to evaluate the cost-effectiveness of CBT compared to treatment as usual (TAU). In total, 49 children aged 8-18 years with ASD and comorbid anxiety disorders, and their parents, participated; 24 were assigned to CBT and 25 were assigned to TAU. Outcome measures were the percentage of children free from their primary anxiety disorder and quality adjusted life years (QALYs). Costs were measured using a retrospective cost-questionnaire. Effects and costs were assessed at pre-, post-, and three months after treatment. Effects and costs were not statistically different between CBT and TAU, however the incremental cost-effectiveness ratio (ICER) demonstrated that CBT dominates TAU. Bootstrapped ICERs demonstrated that CBT has a high probability to be more effective than TAU, however, the probability that either CBT or TAU is more costly did not differ much. Secondary analyses demonstrated fairly robust results. CBT seems a cost-effective intervention compared to TAU, however, long-term follow-ups and comparisons between CBT and specific TAUs are necessary. Cost-effectiveness analyses may help inform policy makers to decide how to treat anxiety disorders in children with ASD. (C) 2013 Elsevier Ltd. All rights reserved. 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TI Early Intensive Behavioral Interventions: Selecting behaviors for treatment and assessing treatment effectiveness SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Early Intensive Behavioral Intervention; Target behaviors; Treatment outcome ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDER; YOUNG-CHILDREN; DASH-II; INTELLECTUAL DISABILITY; DIAGNOSTIC-ASSESSMENT; MENTAL-RETARDATION; FEEDING PROBLEMS; INFANTS; SCHOOL AB Early Intensive Behavioral Interventions (EIBI) is well established as the most effective treatment for young children with Autism Spectrum Disorders (ASD). A hallmark of this intervention model is the bundling of multiple behaviors simultaneously for intervention. With the addition of various comorbid problems such as challenging behaviors and psychopathology, it becomes incumbent on clinicians to prioritize behaviors for intervention. Based on the studies conducted to date, little has been done in this regard. Additionally, general measures of ASD, adaptive behavior and cognitive functioning are primarily used to assess outcomes, many of these measures were not designed to assess treatment effects, and little evidence is available to link intervention to specific items on these scales. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Matson, Johnny L.; Goldin, Rachel L.] Louisiana State Univ, Baton Rouge, LA 70803 USA. RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. 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Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 138 EP 142 DI 10.1016/j.rasd.2013.11.005 PG 5 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600010 ER PT J AU Watkins, EE Zimmermann, ZJ Poling, A AF Watkins, Erin E. Zimmermann, Zachary J. Poling, Alan TI The gender of participants in published research involving people with autism spectrum disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Autism; Autism spectrum disorder; Gender; Females; Males; Research confound ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDHOOD AUTISM; PREVALENCE AB Research articles involving participants with an autism spectrum disorder and published from 2010 through 2012 in Autism,Journal of Autism and Developmental Disorders,Journal of Child Psychology and Child Psychiatry, and Research in Autism Spectrum Disorders were examined to determine the reported gender of participants. The overall male:female ratio was 4.62, which is similar to that reported in epidemiological studies, but the ratio was 6.07 in intervention studies. These findings suggesting that males were in a statistical sense over-represented in intervention studies, but not in other kinds of research. Most (82.21%) of these studies included both male and female participants, but direct comparisons of males and females with an autism spectrum disorder are scarce. Few of the articles we examined, 0.49% of the total, involved only female participants. Roughly half of the articles included comparison groups without an autism spectrum disorder. The percentage of male participants in these comparison groups was substantially and significantly lower than the percentage of males in groups with an autism spectrum disorder, which may in some cases constitute a methodological confound. We encourage researchers to carefully consider the gender of participants as both an extraneous variable and as an independent variable in future investigations. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Watkins, Erin E.; Zimmermann, Zachary J.; Poling, Alan] Western Michigan Univ, Dept Psychol, Kalamazoo, MI 49008 USA. RP Poling, A (reprint author), Western Michigan Univ, Dept Psychol, Kalamazoo, MI 49008 USA. EM alan.poling@wmich.edu CR Autism Speaks, 2013, WHAT IS AUT Baio Jon, 2012, Morbidity and Mortality Weekly Report, V61, P1 Bell D. J., 2005, HDB BEHAV EMOTIONAL Edwards TL, 2012, RES AUTISM SPECT DIS, V6, P996, DOI 10.1016/j.rasd.2011.11.002 Fombonne E, 2003, J AUTISM DEV DISORD, V33, P365, DOI 10.1023/A:1025054610557 Hyde JS, 2007, CURR DIR PSYCHOL SCI, V16, P259, DOI 10.1111/j.1467-8721.2007.00516.x Kanner L, 1943, NERV CHILD, V2, P217 Koenig K, 2005, ISS CLIN CH, P211 MCCARTHY P, 1984, IRISH MED J, V77, P129 WING L, 1976, PSYCHOL MED, V6, P89 NR 10 TC 0 Z9 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1750-9467 EI 1878-0237 J9 RES AUTISM SPECT DIS JI Res. Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 143 EP 146 DI 10.1016/j.rasd.2013.10.010 PG 4 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600011 ER PT J AU Konst, MJ Matson, JL AF Konst, Matthew J. Matson, Johnny L. TI Comorbid psychopathology symptom rates in infants and toddlers with Autism Spectrum Disorders SO RESEARCH IN AUTISM SPECTRUM DISORDERS LA English DT Article DE Comorbid psychopathology; Baby and Infant Screen for Children with aUtism Traits-Part 2; Autism Spectrum Disorder ID PERVASIVE DEVELOPMENTAL DISORDERS; II DASH-II; YOUNG-CHILDREN; PDD-NOS; INTELLECTUAL DISABILITY; PSYCHIATRIC-DISORDERS; DIAGNOSTIC-ASSESSMENT; MENTAL-RETARDATION; FEEDING PROBLEMS; BEHAVIORS AB In comparison to both typically and atypically developing peers, researchers investigating the rates of comorbid psychopathology symptoms in infants and toddlers with an Autism Spectrum Disorder(ASD) have not been widespread. Additionally, the DSM-5 introduced structural criteria changes for the ASD diagnostic group. The current study included 205 infants between 17 and 37 months who were part of a screening program assessing children for developmental delays or a general medical condition placing them at risk for a developmental delay. Each participant was administered the Baby and Infant Screen for Children with aUtIsm Traits-Part 2 (BISCUIT-Part 2) as part of a broader screening package. The BISCUIT-Part 2 is a measure of comorbid psychopathology symptoms which includes a normative ASD group. Following completion of the screeners, participants were separated into either the ASD or atypically developing diagnostic categories based upon clinical diagnosis. The scores for each subscale of the BISCUIT-Part 2 were calculated and used to indicate the presence of comorbid symptoms. Statistical analyses identified that comorbid psychopathology symptoms occur at significantly greater rates in infants and toddlers diagnosed with ASD when compared to an atypically developing peer group. 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Autism Spectr. Disord. PD FEB PY 2014 VL 8 IS 2 BP 147 EP 155 DI 10.1016/j.rasd.2013.10.011 PG 9 WC Education, Special; Psychology, Developmental; Psychiatry; Rehabilitation SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation GA AA5RF UT WOS:000331156600012 ER PT J AU Bracken, M Rohrer, N AF Bracken, Maeve Rohrer, Nicole TI Using an adapted form of the Picture Exchange Communication System to increase independent requesting in deafblind adults with learning disabilities SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Adapted PECS; Deafblind; Learning disability; Independent requesting ID SEVERE DEVELOPMENTAL-DISABILITIES; AUTISM; PECS; CHILDREN; ACQUISITION; STUDENT; SPEECH; IMPACT; SKILLS AB The current study assessed the effectiveness of an adapted form of the Picture Exchange Communication System (PECS) in increasing independent requesting in deafblind adults with learning disabilities. PECS cards were created to accommodate individual needs, including adaptations such as enlarging photographs and using swelled images which consisted of images created on raised line drawing paper. Training included up to Phase III of PECS and procedures ensuring generalizations across individuals and contexts were included. The effects of the intervention were evaluated using a multiple baseline design across participants. Results demonstrated an increase in independent requesting with each of the participants reaching mastery criterion. These results suggest that PECS, in combination with some minor adaptations, may be an effective communicative alternative for individuals who are deafblind and have learning impairments. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Bracken, Maeve; Rohrer, Nicole] Univ Dublin Trinity Coll, Dublin 2, Ireland. RP Bracken, M (reprint author), Univ Dublin Trinity Coll, Sch Psychol, Dublin 2, Ireland. 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TI Association between regression and self injury among children with autism SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism; Autism spectrum disorder; Regression; Self-injurious behaviors ID YOUNG-CHILDREN; SPECTRUM DISORDERS; BEHAVIOR; DISABILITIES AB Self injurious behaviors (SIBs) are challenging clinical problems in individuals with autism spectrum disorders (ASDs). This study is one of the first and largest to utilize inpatient data to examine the associations between autism, developmental regression, and SIBs. Medical records of 125 neurobehavioral hospitalized patients with diagnoses of ASDs and SIBs between 4 and 17 years of age were reviewed. Data were collected from medical records on the type and frequency of SIBs and a history of language, social, or behavioral regression during development. The children with a history of any type of developmental regression (social, behavioral, or language) were more likely to have a diagnosis of autistic disorder than other ASD diagnoses. There were no significant differences in the occurrence of self injurious or other problem behaviors (such as aggression or disruption) between children with and without regression. Regression may influence the diagnostic considerations in ASDs but does not seem to influence the clinical phenotype with regard to behavioral issues. Additional data analyses explored the frequencies and subtypes of SIBs and other medical diagnoses in ASDs, with intellectual disability and disruptive behavior disorder found most commonly. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Lance, Eboni I.; Zimmerman, Andrew W.] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA. [Lance, Eboni I.] Johns Hopkins Univ Hosp, Dept Pediat, Baltimore, MD 21287 USA. [York, Janet M.] Kennedy Krieger Inst, Neurobehav Unit, Baltimore, MD 21205 USA. [Lance, Eboni I.; York, Janet M.; Lee, Li-Ching] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA. RP Lance, EI (reprint author), 707 North Broadway, Baltimore, MD 21205 USA. 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J., 1982, ADV CHILD BEHAV ANAL, P189 TATE BG, 1966, BEHAV RES THER, V4, P281, DOI 10.1016/0005-7967(66)90024-6 NR 19 TC 0 Z9 0 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 FEB PY 2014 VL 35 IS 2 BP 408 EP 413 DI 10.1016/j.ridd.2013.11.014 PG 6 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AA9KN UT WOS:000331412500018 PM 24342713 ER PT J AU Hellendoorn, A Langstraat, I Wijnroks, L Buitelaar, JK van Daalen, E Leseman, PPM AF Hellendoorn, Annika Langstraat, Irene Wijnroks, Lex Buitelaar, Jan K. van Daalen, Emma Leseman, Paul P. M. TI The relationship between atypical visual processing and social skills in young children with autism SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism; Atypical visual processing; Social skills; Embodiment ID TRAITS QUESTIONNAIRE ESAT; SPECTRUM DISORDERS; ASPERGER-SYNDROME; PERCEPTION; MOTION; AFFORDANCES; ATTENTION; COGNITION; INFANTS; PEOPLE AB The present study examined whether atypical visual processing is related to the level of social skills in children with autism spectrum disorder (ASD). Thirty-eight young children with ASD (29 boys, 9 girls) were included. Atypical visual processing was assessed by coding the number of lateral glances and the amount of object grouping behavior on videotaped observations of the ADOS (aged 35 +/- 9 months). The level of social skills was measured using the subscale interpersonal relationships of the Vineland SEEC (32 +/- 7 months). A negative relationship with a medium effect size was found between lateral glances and interpersonal relationships. Object grouping behavior and interpersonal relationships were not related. This study suggests that visual perception may be a mechanism in the development of interpersonal relationships in ASD, which is in accordance with an embodied approach to social cognition. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Hellendoorn, Annika; Langstraat, Irene; Wijnroks, Lex; Leseman, Paul P. M.] Univ Utrecht, Dept Special Educ Cognit & Motor Disabil, NL-3508 TC Utrecht, Netherlands. [Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, Nijmegen, Netherlands. [Buitelaar, Jan K.] Karakter Child & Adolescent Psychiat Univ Ctr, Nijmegen, Netherlands. [van Daalen, Emma] Univ Med Ctr, Dept Child & Adolescent Psychiat, Utrecht, Netherlands. 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PD FEB PY 2014 VL 35 IS 2 BP 423 EP 428 DI 10.1016/j.ridd.2013.11.012 PG 6 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AA9KN UT WOS:000331412500020 PM 24361810 ER PT J AU Chang, YC Lin, JD Tung, HJ Chiang, PH Hsu, SW AF Chang, Yu-Chia Lin, Jin-Ding Tung, Ho-Jui Chiang, Po-Huang Hsu, Shang-Wei TI Outpatient physical therapy utilization for children and adolescents with intellectual disabilities in Taiwan: A population-based nationwide study SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Physical therapy; Children and adolescents; Intellectual disability; Outpatient; Rehabilitation ID REHABILITATION SERVICE UTILIZATION; HEALTH INTERVIEW SURVEY; MENTAL-RETARDATION; CEREBRAL-PALSY; PREVALENCE; AUTISM; AGE AB This study analyzed the utilization and utilization determinants of outpatient physical therapy (PT) among children and adolescents with intellectual disabilities (ID) in Taiwan. A cross-sectional study was conducted to analyze 2007 national health insurance (NHI) claim data from 35,802 eighteen-year-old and younger persons with intellectual disabilities. A total of 3944 (11.02%) claimants received outpatient physical therapy. Variables that affected PT utilization included age, residence urbanization level, ID level, copayment status and major co-morbidity. The average annual PT visit frequency was 25.4 +/- 33.0; pre-school children, claimants suffering from catastrophic disease and ID co-occurring with cerebral palsy had a higher mean cost per visit. Age, ID level, copayment status and co-morbidity were factors that influenced expenditure. Pre-school children, males, individuals who resided in the lowest urbanization areas and individuals with a catastrophic disease tended to use hospital services. The point prevalence of epilepsy and cerebral palsy were 12.10% and 19.80%, respectively. Despite the NHI program and government regulations to provide special services, the use of physical therapy for children and adolescents with intellectual disabilities was low, and the utilization decreased as the subjects aged. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Chang, Yu-Chia; Tung, Ho-Jui; Hsu, Shang-Wei] Asia Univ, Dept Healthcare Adm, Taichung 41354, Taiwan. [Chang, Yu-Chia; Tung, Ho-Jui] Asia Univ, Res Ctr Hlth Policy & Management, Taichung 41354, Taiwan. [Lin, Jin-Ding] Natl Def Med Ctr, Sch Publ Hlth, Taipei, Taiwan. [Chiang, Po-Huang] Natl Hlth Res Inst, Inst Populat Hlth Sci, Miaoli, Taiwan. [Chiang, Po-Huang; Hsu, Shang-Wei] China Med Univ, Dept Publ Hlth, Taichung, Taiwan. RP Hsu, SW (reprint author), Asia Univ, Dept Healthcare Adm, 500 Lioufeng Rd, Taichung 41354, Taiwan. 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M., 2009, FORMOSAN J PHYS THER, V34, P219 NR 30 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 FEB PY 2014 VL 35 IS 2 BP 498 EP 505 DI 10.1016/j.ridd.2013.12.001 PG 8 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AA9KN UT WOS:000331412500029 PM 24370652 ER PT J AU Marroquin, M Alvero, A Sturmey, P AF Marroquin, Michael Alvero, Alicia Sturmey, Peter TI Evaluation of the observer effect on compliance training in adolescents with autism SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Compliance training; Behavioral observations; Observer effect; Autism; Parent training ID BEHAVIORAL OBSERVATIONS AB Three mothers conducted behavioral observations of video clips of a mother conducting compliance training to varying degrees of accuracy. Subsequently, two mothers correctly conducted compliance training and their children emitted compliant behavior. Upon addition of feedback, the third mother correctly implemented compliance training and her child also emitted complaint behavior. Conducting behavioral observations may be a viable and efficient option for training parents to conduct compliance training and, if ineffective, can be supplemented by feedback. (C) 2013 Published by Elsevier Ltd. C1 [Sturmey, Peter] CUNY Queens Coll, Flushing, NY 11367 USA. CUNY Grad Sch & Univ Ctr, New York, NY USA. RP Sturmey, P (reprint author), CUNY Queens Coll, Flushing, NY 11367 USA. EM psturmey@gmail.com CR Alvero AM, 2008, J SAFETY RES, V39, P365, DOI 10.1016/j.jsr.2008.05.004 Alvero AM, 2004, J APPL BEHAV ANAL, V37, P457, DOI 10.1901/jaba.2004.37-457 Baio J., 2008, SURVEILLANCE SUMMARI, V61, pSS03 Guercio JM, 2011, J ORGAN BEHAV MANAGE, V31, P43, DOI 10.1080/01608061.2010.520142 National Autism Center, 2009, NAT AUST STAND REP Sarakoff R. A., 2004, J APPL BEHAV ANAL, V37, P535 Sasson J. R., 2007, PROF SAF, V52, P26 Sasson J.-R., 2005, J ORGAN BEHAV MANAGE, V23, P1 Thomas BR, 2013, RES DEV DISABIL, V34, P2143, DOI 10.1016/j.ridd.2013.03.033 Ward-Horner J, 2008, BEHAV INTERVENT, V23, P271, DOI 10.1002/bin.268 Wilder DA, 2012, J APPL BEHAV ANAL, V45, P121, DOI 10.1901/jaba.2012.45-121 Wilder DA, 2010, J APPL BEHAV ANAL, V43, P601, DOI 10.1901/jaba.2010.43-601 NR 12 TC 0 Z9 0 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 FEB PY 2014 VL 35 IS 2 BP 537 EP 540 DI 10.1016/j.ridd.2013.11.008 PG 4 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AA9KN UT WOS:000331412500034 PM 24378631 ER PT J AU Fetherston, AM Sturmey, P AF Fetherston, Anne M. Sturmey, Peter TI The effects of behavioral skills training on instructor and learner behavior across responses and skill sets SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Behavioral skills training; Autism; Care staff; Discrete trial teaching; Incidental teaching; Activity schedules ID IMPLEMENTATION AB Behavioral skills training (BST) is effective to train staff to provide intervention to people with developmental disabilities. The purpose of this study was to assess whether: (a) prior studies demonstrating the effectiveness of BST could be systematically replicated while teaching multiple teaching instructors to implement discrete trial teaching, incidental teaching and activity schedules; (b) instructional skills that staff acquired during training on one response generalized to a variety of instructional programs, (c) positive changes in staff performance produced positive behavior change in learners; and (d) positive changes in learner behavior generalized to novel programs. BST resulted in positive behavior change across staff, learners, instructional programs, and various teaching skills. Further, staff generalized teaching skills to novel responses and learners displayed increases in correct responding for all three instructional procedures. Social validity data indicated they these staff training procedures were highly acceptable and effective. Thus, BST is an effective and acceptable staff training procedure. (C) 2013 Published by Elsevier Ltd. C1 [Sturmey, Peter] CUNY Queens Coll, Flushing, NY 11367 USA. CUNY, Grad Ctr, New York, NY USA. RP Sturmey, P (reprint author), CUNY Queens Coll, Flushing, NY 11367 USA. EM psturmey@gmail.com CR Dib N, 2007, J APPL BEHAV ANAL, V40, P339, DOI 10.1901/jaba.2007.52-06 Lafasakis M, 2007, J APPL BEHAV ANAL, V40, P685, DOI 10.1901/jaba.2007.685-689 MacDuff G. S., 1988, ED TREATMENT CHILDRE, V11, P205 MACDUFF GS, 1993, J APPL BEHAV ANAL, V26, P89, DOI 10.1901/jaba.1993.26-89 Ryan C. S., 2007, RES AUTISM SPECT DIS, V2, P28 Sarokoff R. A., 2007, RES AUTISM SPECT DIS, V2, P125 Sarokoff RA, 2004, J APPL BEHAV ANAL, V37, P535, DOI 10.1901/jaba.2004.37-535 Seiverling L, 2010, BEHAV INTERVENT, V25, P53, DOI 10.1002/bin.293 Ward-Horner J, 2008, BEHAV INTERVENT, V23, P271, DOI 10.1002/bin.268 NR 9 TC 0 Z9 0 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 FEB PY 2014 VL 35 IS 2 BP 541 EP 562 DI 10.1016/j.ridd.2013.11.006 PG 22 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA AA9KN UT WOS:000331412500035 PM 24374896 ER PT J AU Roberts, JE Tonnsen, BL Robinson, M McQuillin, SD Hatton, DD AF Roberts, Jane E. Tonnsen, Bridgette L. Robinson, Marissa McQuillin, Samuel D. Hatton, Deborah D. TI Temperament factor structure in fragile X syndrome: The Children's Behavior Questionnaire SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Temperament; Fragile X syndrome; Factor analysis ID WILLIAMS-SYNDROME; EARLY-CHILDHOOD; YOUNG BOYS; PERSONALITY; ANXIETY; PSYCHOPATHOLOGY; ASSOCIATIONS; CONTINUITY; ATTENTION; AUTISM AB Early patterns of temperament lay the foundation for a variety of developmental constructs such as self-regulation, psychopathology, and resilience. Children with fragile X syndrome (FXS) display unique patterns of temperament compared to age-matched clinical and non-clinical samples, and early patterns of temperament have been associated with later anxiety in this population. Despite these unique patterns in FXS and recent reports of atypical factor structure of temperament questionnaires in Williams Syndrome (Leyfer, John, Woodruff-Borden, & Mervis, 2012), no studies have examined the latent factor structure of temperament scales in FXS to ensure measurement validity in this sample. The present study used confirmatory factor analysis to examine the factor structure of a well-validated parent-reported temperament questionnaire, the Children's Behavior Questionnaire (Rothbart, Ahadi, Hershey, & Fisher, 2001), in a sample of 90 males with FXS ages 3-9 years. Our data produced a similar, but not identical, three-factor model that retained the original CBQ factors of negative affectivity, effortful control, and extraversion/surgency. In particular, our FXS sample demonstrated stronger factor loadings for fear and shyness than previously reported loadings in non-clinical samples, consistent with reports of poor social approach and elevated anxiety in this population. Although the original factor structure of the Children's Behavior Questionnaire is largely retained in children with FXS, differences in factor loading magnitudes may reflect phenotypic characteristics of the syndrome. These findings may inform future developmental and translational research efforts. (C) 2013 Elsevier Ltd. All rights reserved. C1 [Roberts, Jane E.; Tonnsen, Bridgette L.; Robinson, Marissa] Univ S Carolina, Dept Psychol, Columbia, SC 29208 USA. [McQuillin, Samuel D.] Univ Houston, Dept Educ Psychol, Houston, TX USA. [Hatton, Deborah D.] Vanderbilt Univ, Dept Special Educ, Nashville, TN 37235 USA. RP Roberts, JE (reprint author), Univ S Carolina, Dept Psychol, 1512 Pendleton St, Columbia, SC 29208 USA. 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